Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 261734 |
|---|---|
| ensemblid | ENSG00000131697.18 |
| hgncid | 19104 |
| symbol | NPHP4 |
| name | nephrocystin 4 |
| refseq_nuc | NM_015102.5 |
| refseq_prot | NP_055917.1 |
| ensembl_nuc | ENST00000378156.9 |
| ensembl_prot | ENSP00000367398.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 5862811 |
| end | 5992425 |
| strand | - |
| ver | v1.2 |
| region | chr1:5862811-5992425 |
| region5000 | chr1:5857811-5997425 |
| regionname0 | NPHP4_chr1_5862811_5992425 |
| regionname5000 | NPHP4_chr1_5857811_5997425 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 1426 | 176 | 50 | 41 | 48 | 8 | 29 | 28 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002 | 0/0 | 1426 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0003 | 0/0 | 1426 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0004 | 0/0 | 1426 | 3 | 0 | 1 | 0 | 0 | 2 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0005 | 0/0 | 1426 | 3 | 0 | 0 | 3 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0006 | 0/0 | 1426 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0007 | 0/0 | 1426 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0008 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0009 | 0/0 | 1426 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0010 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0011 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0012 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0013 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0014 | 0/0 | 1426 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0015 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0016 | 0/0 | 1426 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0017 | 0/0 | 1426 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 4281 | 63 | 13 | 15 | 21 | 2 | 12 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0002 | 0/0 | 4281 | 40 | 4 | 12 | 11 | 4 | 9 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0003 | 0/0 | 4281 | 31 | 16 | 4 | 3 | 1 | 7 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0004 | 0/0 | 4281 | 17 | 1 | 7 | 8 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0005 | 0/0 | 4281 | 11 | 11 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0006 | 0/0 | 4281 | 6 | 6 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0007 | 0/0 | 4281 | 4 | 4 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0008 | 0/0 | 4281 | 3 | 0 | 2 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0009 | 0/0 | 4281 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0010 | 0/0 | 4281 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0011 | 0/0 | 4281 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0012 | 0/0 | 4281 | 2 | 0 | 0 | 0 | 0 | 2 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0013 | 0/0 | 4281 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0014 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0015 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0016 | 0/0 | 4281 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0017 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0018 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0019 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0020 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0021 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0022 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0023 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0024 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0025 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0026 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0027 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0028 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0029 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0030 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0031 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0032 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0033 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0034 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0035 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0036 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| c0037 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 675 | 192 | 54 | 44 | 52 | 8 | 34 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| t0002 | 0/0 | 675 | 7 | 7 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| t0003 | 0/0 | 675 | 5 | 5 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| t0004 | 0/0 | 675 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| t0005 | 0/0 | 675 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| t0006 | 0/0 | 675 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 4281 | 63 | 13 | 15 | 21 | 2 | 12 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0002 | 0/0 | 4281 | 40 | 4 | 12 | 11 | 4 | 9 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0003 | 0/0 | 4281 | 31 | 16 | 4 | 3 | 1 | 7 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0004 | 0/0 | 4281 | 17 | 1 | 7 | 8 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0005 | 0/0 | 4281 | 11 | 11 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0008 | 0/0 | 4281 | 3 | 0 | 2 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0011 | 0/0 | 4281 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0015 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0017 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0023 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0024 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0025 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0029 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0033 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0034 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0036 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0006 | 0/0 | 4281 | 6 | 6 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0031 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0032 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0003c0007 | 0/0 | 4281 | 4 | 4 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0004c0009 | 0/0 | 4281 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0004c0016 | 0/0 | 4281 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0005c0010 | 0/0 | 4281 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0005c0018 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0006c0012 | 0/0 | 4281 | 2 | 0 | 0 | 0 | 0 | 2 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0007c0026 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0007c0028 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0008c0037 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0009c0013 | 0/0 | 4281 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0010c0022 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0011c0020 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0012c0019 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0013c0021 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0014c0027 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0015c0030 | 0/0 | 4281 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0016c0014 | 0/0 | 4281 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0017c0035 | 0/0 | 4281 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4955 | 63 | 13 | 15 | 21 | 2 | 12 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0002t0001 | 0/0 | 4955 | 40 | 4 | 12 | 11 | 4 | 9 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0003t0001 | 0/0 | 4955 | 28 | 13 | 4 | 3 | 1 | 7 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0003t0002 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0004t0001 | 0/0 | 4955 | 17 | 1 | 7 | 8 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0005t0001 | 0/0 | 4955 | 11 | 11 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0008t0001 | 0/0 | 4955 | 3 | 0 | 2 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0011t0001 | 0/0 | 4955 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0015t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0017t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0023t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0024t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0025t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0029t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0033t0003 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0034t0006 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0001c0036t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0006t0001 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0006t0002 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0031t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0002c0032t0002 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0003c0007t0003 | 0/0 | 4955 | 4 | 4 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0004c0009t0001 | 0/0 | 4955 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0004c0016t0001 | 0/0 | 4955 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0005c0010t0001 | 0/0 | 4955 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0005c0018t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0006c0012t0001 | 0/0 | 4955 | 2 | 0 | 0 | 0 | 0 | 2 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0007c0026t0004 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0007c0028t0004 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0008c0037t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0009c0013t0001 | 0/0 | 4955 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0010c0022t0005 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0011c0020t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0012c0019t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0013c0021t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0014c0027t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0015c0030t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0016c0014t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| a0017c0035t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | copy fasta | chr1 | 5857811 | 5997425 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0002t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0002g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0003t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0004t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0005t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0008t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0008t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0008t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0011t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0011t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0015t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0017t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0023t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0024t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0025t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0029t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0033t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0034t0006g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0001c0036t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0006t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0031t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0002c0032t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0003c0007t0003g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0003c0007t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0003c0007t0003g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0004c0009t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0004c0009t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0004c0016t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0010t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0010t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0018t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0006c0012t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0006c0012t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0007c0026t0004g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0007c0028t0004g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0008c0037t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0009c0013t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0010c0022t0005g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0011c0020t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0012c0019t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0013c0021t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0014c0027t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0015c0030t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0016c0014t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0017c0035t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0001 | g0175 | EUR | GBR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00099 | hp2 | a0001 | c0008 | t0001 | g0152 | EUR | GBR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0011 | EUR | GBR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00140 | hp2 | a0001 | c0003 | t0001 | g0064 | EUR | GBR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00280 | hp1 | a0001 | c0002 | t0001 | g0106 | EUR | FIN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0010 | EUR | FIN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00408 | hp1 | a0005 | c0018 | t0001 | g0122 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00408 | hp2 | a0001 | c0002 | t0001 | g0123 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00544 | hp1 | a0001 | c0004 | t0001 | g0179 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00558 | hp2 | a0001 | c0002 | t0001 | g0132 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00597 | hp2 | a0001 | c0002 | t0001 | g0125 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00609 | hp2 | a0001 | c0011 | t0001 | g0032 | EAS | CHS | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00639 | hp1 | a0001 | c0004 | t0001 | g0044 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00639 | hp2 | a0001 | c0003 | t0001 | g0021 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00642 | hp1 | a0001 | c0004 | t0001 | g0182 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00735 | hp1 | a0001 | c0002 | t0001 | g0111 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0077 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0047 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00741 | hp1 | a0004 | c0009 | t0001 | g0186 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0085 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01071 | hp1 | a0001 | c0003 | t0001 | g0057 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01071 | hp2 | a0001 | c0004 | t0001 | g0185 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01074 | hp1 | a0001 | c0002 | t0001 | g0112 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01074 | hp2 | a0001 | c0004 | t0001 | g0191 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01081 | hp1 | a0001 | c0003 | t0001 | g0068 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01081 | hp2 | a0001 | c0008 | t0001 | g0146 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01106 | hp1 | a0001 | c0024 | t0001 | g0039 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01106 | hp2 | a0001 | c0002 | t0001 | g0156 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01192 | hp1 | a0001 | c0004 | t0001 | g0181 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01192 | hp2 | a0001 | c0002 | t0001 | g0117 | AMR | PUR | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0151 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01255 | hp2 | a0001 | c0004 | t0001 | g0183 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0091 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01258 | hp2 | a0001 | c0008 | t0001 | g0153 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01261 | hp2 | a0001 | c0002 | t0001 | g0127 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01346 | hp1 | a0014 | c0027 | t0001 | g0071 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01346 | hp2 | a0016 | c0014 | t0001 | g0145 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01433 | hp1 | a0001 | c0002 | t0001 | g0155 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0072 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01884 | hp1 | a0001 | c0015 | t0001 | g0012 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01884 | hp2 | a0003 | c0007 | t0003 | g0103 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01928 | hp1 | a0001 | c0002 | t0001 | g0150 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0093 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01981 | hp2 | a0001 | c0002 | t0001 | g0147 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02004 | hp1 | a0001 | c0004 | t0001 | g0058 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02015 | hp1 | a0001 | c0036 | t0001 | g0040 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02015 | hp2 | a0001 | c0029 | t0001 | g0073 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02055 | hp1 | a0001 | c0003 | t0002 | g0157 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02055 | hp2 | a0015 | c0030 | t0001 | g0138 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02056 | hp1 | a0005 | c0010 | t0001 | g0120 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02083 | hp1 | a0017 | c0035 | t0001 | g0105 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02083 | hp2 | a0001 | c0003 | t0001 | g0061 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0131 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02132 | hp1 | a0001 | c0003 | t0001 | g0119 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | KHV | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02145 | hp1 | a0001 | c0005 | t0001 | g0167 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02145 | hp2 | a0001 | c0002 | t0001 | g0161 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02148 | hp1 | a0001 | c0002 | t0001 | g0144 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0099 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | CDX | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02155 | hp2 | a0001 | c0002 | t0001 | g0201 | EAS | CDX | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0054 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02280 | hp1 | a0001 | c0005 | t0001 | g0164 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02280 | hp2 | a0007 | c0026 | t0004 | g0205 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02300 | hp1 | a0001 | c0002 | t0001 | g0143 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02451 | hp1 | a0001 | c0003 | t0002 | g0204 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02451 | hp2 | a0001 | c0003 | t0001 | g0065 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02602 | hp1 | a0004 | c0016 | t0001 | g0184 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02602 | hp2 | a0009 | c0013 | t0001 | g0042 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02615 | hp1 | a0001 | c0003 | t0001 | g0067 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02622 | hp2 | a0001 | c0003 | t0001 | g0052 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02630 | hp1 | a0002 | c0006 | t0002 | g0195 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02647 | hp1 | a0002 | c0006 | t0001 | g0135 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02647 | hp2 | a0001 | c0005 | t0001 | g0170 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02735 | hp1 | a0001 | c0002 | t0001 | g0090 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02735 | hp2 | a0004 | c0009 | t0001 | g0192 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02809 | hp2 | a0002 | c0032 | t0002 | g0196 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02818 | hp2 | a0003 | c0007 | t0003 | g0104 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02886 | hp1 | a0001 | c0003 | t0001 | g0045 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02895 | hp2 | a0001 | c0005 | t0001 | g0171 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02896 | hp1 | a0002 | c0006 | t0001 | g0136 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02896 | hp2 | a0001 | c0003 | t0002 | g0203 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02922 | hp1 | a0001 | c0033 | t0003 | g0019 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02922 | hp2 | a0013 | c0021 | t0001 | g0202 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02965 | hp1 | a0002 | c0031 | t0001 | g0137 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02965 | hp2 | a0001 | c0005 | t0001 | g0172 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02976 | hp1 | a0001 | c0005 | t0001 | g0165 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02976 | hp2 | a0003 | c0007 | t0003 | g0001 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03017 | hp1 | a0001 | c0003 | t0001 | g0059 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03041 | hp1 | a0001 | c0005 | t0001 | g0169 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03041 | hp2 | a0001 | c0003 | t0001 | g0141 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03098 | hp1 | a0001 | c0002 | t0001 | g0159 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03098 | hp2 | a0002 | c0006 | t0001 | g0134 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03130 | hp1 | a0001 | c0003 | t0001 | g0139 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03195 | hp1 | a0001 | c0005 | t0001 | g0173 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03195 | hp2 | a0001 | c0002 | t0001 | g0118 | AFR | ESN | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03209 | hp1 | a0001 | c0034 | t0006 | g0206 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03209 | hp2 | a0001 | c0005 | t0001 | g0163 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03239 | hp1 | a0006 | c0012 | t0001 | g0023 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03239 | hp2 | a0006 | c0012 | t0001 | g0069 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03453 | hp1 | a0002 | c0006 | t0002 | g0197 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03453 | hp2 | a0010 | c0022 | t0005 | g0207 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03486 | hp1 | a0007 | c0028 | t0004 | g0002 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0086 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03491 | hp2 | a0001 | c0003 | t0001 | g0063 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03492 | hp1 | a0001 | c0003 | t0001 | g0055 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03492 | hp2 | a0001 | c0002 | t0001 | g0114 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03540 | hp1 | a0001 | c0005 | t0001 | g0162 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03579 | hp1 | a0003 | c0007 | t0003 | g0001 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03579 | hp2 | a0001 | c0023 | t0001 | g0062 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03654 | hp1 | a0001 | c0003 | t0001 | g0053 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0149 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03669 | hp1 | a0001 | c0002 | t0001 | g0108 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0074 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0129 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03710 | hp1 | a0001 | c0003 | t0001 | g0133 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0031 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0041 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0110 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0038 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0027 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03942 | hp2 | a0001 | c0003 | t0001 | g0060 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04115 | hp1 | a0001 | c0004 | t0001 | g0178 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04184 | hp1 | a0001 | c0002 | t0001 | g0109 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04184 | hp2 | a0001 | c0003 | t0001 | g0056 | SAS | BEB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0116 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0082 | SAS | STU | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18522 | hp1 | a0011 | c0020 | t0001 | g0168 | AFR | YRI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18522 | hp2 | a0001 | c0003 | t0001 | g0140 | AFR | YRI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18747 | hp1 | a0005 | c0010 | t0001 | g0121 | EAS | CHB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | CHB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0199 | AFR | YRI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18906 | hp2 | a0008 | c0037 | t0001 | g0006 | AFR | YRI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18944 | hp1 | a0001 | c0004 | t0001 | g0190 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18944 | hp2 | a0001 | c0002 | t0001 | g0124 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18945 | hp2 | a0001 | c0002 | t0001 | g0130 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18956 | hp2 | a0001 | c0004 | t0001 | g0177 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18960 | hp2 | a0001 | c0003 | t0001 | g0193 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18969 | hp1 | a0001 | c0004 | t0001 | g0187 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0113 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA18971 | hp2 | a0001 | c0011 | t0001 | g0035 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19007 | hp2 | a0001 | c0002 | t0001 | g0126 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19011 | hp2 | a0001 | c0004 | t0001 | g0194 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19012 | hp1 | a0001 | c0002 | t0001 | g0107 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19030 | hp1 | a0012 | c0019 | t0001 | g0176 | AFR | LWK | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19030 | hp2 | a0001 | c0003 | t0001 | g0102 | AFR | LWK | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19066 | hp1 | a0001 | c0002 | t0001 | g0128 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19066 | hp2 | a0001 | c0004 | t0001 | g0180 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19074 | hp2 | a0001 | c0017 | t0001 | g0188 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19080 | hp1 | a0001 | c0004 | t0001 | g0189 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA19086 | hp2 | a0001 | c0004 | t0001 | g0158 | EAS | JPT | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA20805 | hp1 | a0001 | c0002 | t0001 | g0148 | EUR | TSI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA20805 | hp2 | a0001 | c0002 | t0001 | g0043 | EUR | TSI | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0115 | SAS | GIH | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | GIH | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01123 | hp1 | a0001 | c0003 | t0001 | g0066 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01123 | hp2 | a0001 | c0002 | t0001 | g0154 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02109 | hp1 | a0001 | c0025 | t0001 | g0079 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02559 | hp1 | a0001 | c0002 | t0001 | g0160 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0046 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03471 | hp2 | a0001 | c0003 | t0001 | g0200 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG06807 | hp1 | a0002 | c0006 | t0002 | g0198 | AFR | USA | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG06807 | hp2 | a0001 | c0005 | t0001 | g0166 | AFR | USA | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA21309 | hp1 | a0001 | c0004 | t0001 | g0174 | AFR | LWK | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| NA21309 | hp2 | a0001 | c0003 | t0001 | g0142 | AFR | LWK | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:5863309
|
C | T | 1 | a0013 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.4237G>A | p.Asp1413Asn | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 30/30 | 4457/4955 | 4237/4281 | 1413/1426 | chr1 | 5863309 | ||
| chr1:5864357
|
C | T | 1 | a0012 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.3977G>A | p.Arg1326His | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 28/30 | 4197/4955 | 3977/4281 | 1326/1426 | chr1 | 5864357 | ||
| chr1:5864435
|
C | T | 1 | a0011 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.3899G>A | p.Ser1300Asn | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 28/30 | 4119/4955 | 3899/4281 | 1300/1426 | chr1 | 5864435 | ||
| chr1:5877098
|
C | T | 1 | a0010 | 1 | HG03453.hp2 | missense_variant | MODERATE | c.2812G>A | p.Val938Met | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 3032/4955 | 2812/4281 | 938/1426 | chr1 | 5877098 | ||
| chr1:5877229
|
T | C | 1 | a0007 | 2 | HG02280.hp2 HG03486.hp1 |
missense_variant | MODERATE | c.2681A>G | p.His894Arg | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 2901/4955 | 2681/4281 | 894/1426 | chr1 | 5877229 | ||
| chr1:5880183
|
G | A | 1 | a0014 | 1 | HG01346.hp1 | missense_variant | MODERATE | c.2542C>T | p.Arg848Trp | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/30 | 2762/4955 | 2542/4281 | 848/1426 | chr1 | 5880183 | ||
| chr1:5890879
|
C | T | 1 | a0015 | 1 | HG02055.hp2 | missense_variant | MODERATE | c.2293G>A | p.Val765Ile | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/30 | 2513/4955 | 2293/4281 | 765/1426 | chr1 | 5890879 | ||
| chr1:5890953
|
C | T | 1 | a0004 | 3 | HG00741.hp1 HG02602.hp1 HG02735.hp2 |
missense_variant | MODERATE | c.2219G>A | p.Arg740His | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/30 | 2439/4955 | 2219/4281 | 740/1426 | chr1 | 5890953 | ||
| chr1:5904794
|
C | T | 1 | a0005 | 3 | HG00408.hp1 HG02056.hp1 NA18747.hp1 |
missense_variant | MODERATE | c.1966G>A | p.Asp656Asn | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/30 | 2186/4955 | 1966/4281 | 656/1426 | chr1 | 5904794 | ||
| chr1:5905764
|
G | C | 2 | a0002a0015 | 9 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
missense_variant | MODERATE | c.1631C>G | p.Ala544Gly | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 14/30 | 1851/4955 | 1631/4281 | 544/1426 | chr1 | 5905764 | ||
| chr1:5909184
|
C | T | 1 | a0016 | 1 | HG01346.hp2 | missense_variant | MODERATE | c.1471G>A | p.Ala491Thr | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/30 | 1691/4955 | 1471/4281 | 491/1426 | chr1 | 5909184 | ||
| chr1:5933253
|
T | C | 1 | a0017 | 1 | HG02083.hp1 | missense_variant | MODERATE | c.1196A>G | p.Glu399Gly | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/30 | 1416/4955 | 1196/4281 | 399/1426 | chr1 | 5933253 | ||
| chr1:5948118
|
G | A | 1 | a0006 | 2 | HG03239.hp1 HG03239.hp2 |
missense_variant | MODERATE | c.944C>T | p.Thr315Met | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/30 | 1164/4955 | 944/4281 | 315/1426 | chr1 | 5948118 | ||
| chr1:5948152
|
C | T | 1 | a0009 | 1 | HG02602.hp2 | missense_variant | MODERATE | c.910G>A | p.Val304Ile | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/30 | 1130/4955 | 910/4281 | 304/1426 | chr1 | 5948152 | ||
| chr1:5969165
|
G | C | 1 | a0008 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.374C>G | p.Thr125Arg | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/30 | 594/4955 | 374/4281 | 125/1426 | chr1 | 5969165 | ||
| chr1:5986204
|
G | A | 1 | a0003 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
missense_variant | MODERATE | c.86C>T | p.Thr29Met | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/30 | 306/4955 | 86/4281 | 29/1426 | chr1 | 5986204 | ||
| chr1:5992245
|
T | C | 2 | a0001a0010 | 2 | HG03209.hp1 HG03453.hp2 |
splice_region_variant | LOW | c.-40A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/30 | chr1 | 5992245 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:5864458
|
G | A | 1 | a0001c0008 | 3 | HG00099.hp2 HG01081.hp2 HG01258.hp2 |
synonymous_variant | LOW | c.3876C>T | p.Gly1292Gly | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 28/30 | 4096/4955 | 3876/4281 | 1292/1426 | chr1 | 5864458 | ||
| chr1:5865141
|
C | T | 1 | a0004c0016 | 1 | HG02602.hp1 | synonymous_variant | LOW | c.3777G>A | p.Arg1259Arg | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/30 | 3997/4955 | 3777/4281 | 1259/1426 | chr1 | 5865141 | ||
| chr1:5866405
|
C | T | 1 | a0002c0032 | 1 | HG02809.hp2 | synonymous_variant | LOW | c.3612G>A | p.Pro1204Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/30 | 3832/4955 | 3612/4281 | 1204/1426 | chr1 | 5866405 | ||
| chr1:5866447
|
T | C | 13 | a0001c0002a0001c0004a0001c0008others(10): Show | 72 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show |
synonymous_variant | LOW | c.3570A>G | p.Glu1190Glu | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/30 | 3790/4955 | 3570/4281 | 1190/1426 | chr1 | 5866447 | ||
| chr1:5867759
|
C | T | 1 | a0001c0025 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.3453G>A | p.Pro1151Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/30 | 3673/4955 | 3453/4281 | 1151/1426 | chr1 | 5867759 | ||
| chr1:5873324
|
C | G | 1 | a0001c0024 | 1 | HG01106.hp1 | synonymous_variant | LOW | c.3243G>C | p.Gly1081Gly | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/30 | 3463/4955 | 3243/4281 | 1081/1426 | chr1 | 5873324 | ||
| chr1:5874882
|
G | A | 1 | a0001c0023 | 1 | HG03579.hp2 | synonymous_variant | LOW | c.3036C>T | p.Pro1012Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/30 | 3256/4955 | 3036/4281 | 1012/1426 | chr1 | 5874882 | ||
| chr1:5875050
|
G | A | 1 | a0001c0017 | 1 | NA19074.hp2 | synonymous_variant | LOW | c.2868C>T | p.Ala956Ala | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/30 | 3088/4955 | 2868/4281 | 956/1426 | chr1 | 5875050 | ||
| chr1:5877102
|
C | T | 2 | a0001c0033a0003c0007 | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.2808G>A | p.Thr936Thr | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 3028/4955 | 2808/4281 | 936/1426 | chr1 | 5877102 | ||
| chr1:5877108
|
G | A | 11 | a0001c0001a0001c0011a0001c0015others(8): Show | 75 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(72): Show |
synonymous_variant | LOW | c.2802C>T | p.Arg934Arg | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 3022/4955 | 2802/4281 | 934/1426 | chr1 | 5877108 | ||
| chr1:5877186
|
C | T | 4 | a0001c0005a0002c0031a0011c0020others(1): Show | 14 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(11): Show |
synonymous_variant | LOW | c.2724G>A | p.Ser908Ser | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 2944/4955 | 2724/4281 | 908/1426 | chr1 | 5877186 | ||
| chr1:5877267
|
C | T | 5 | a0001c0004a0001c0017a0004c0009others(2): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
synonymous_variant | LOW | c.2643G>A | p.Ala881Ala | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/30 | 2863/4955 | 2643/4281 | 881/1426 | chr1 | 5877267 | ||
| chr1:5904729
|
G | A | 1 | a0007c0028 | 1 | HG03486.hp1 | synonymous_variant | LOW | c.2031C>T | p.Pro677Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/30 | 2251/4955 | 2031/4281 | 677/1426 | chr1 | 5904729 | ||
| chr1:5905321
|
C | T | 4 | a0001c0004a0001c0017a0004c0009others(1): Show | 21 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(18): Show |
synonymous_variant | LOW | c.1926G>A | p.Glu642Glu | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 15/30 | 2146/4955 | 1926/4281 | 642/1426 | chr1 | 5905321 | ||
| chr1:5905763
|
G | A | 1 | a0001c0029 | 1 | HG02015.hp2 | synonymous_variant | LOW | c.1632C>T | p.Ala544Ala | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 14/30 | 1852/4955 | 1632/4281 | 544/1426 | chr1 | 5905763 | ||
| chr1:5907184
|
C | T | 1 | a0001c0015 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.1542G>A | p.Pro514Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/30 | 1762/4955 | 1542/4281 | 514/1426 | chr1 | 5907184 | ||
| chr1:5909185
|
G | A | 3 | a0001c0033a0001c0034a0003c0007 | 6 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(3): Show |
synonymous_variant | LOW | c.1470C>T | p.Leu490Leu | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/30 | 1690/4955 | 1470/4281 | 490/1426 | chr1 | 5909185 | ||
| chr1:5947134
|
C | A | 1 | a0001c0036 | 1 | HG02015.hp1 | synonymous_variant | LOW | c.1089G>T | p.Val363Val | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/30 | 1309/4955 | 1089/4281 | 363/1426 | chr1 | 5947134 | ||
| chr1:5961888
|
C | T | 1 | a0009c0013 | 1 | HG02602.hp2 | synonymous_variant | LOW | c.579G>A | p.Pro193Pro | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/30 | 799/4955 | 579/4281 | 193/1426 | chr1 | 5961888 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:5862951
|
A | C | 4 | a0001c0003t0002a0002c0006t0002a0002c0032t0002others(1): Show | 8 | HG02055.hp1 HG02451.hp1 HG02630.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*314T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 30/30 | 314 | chr1 | 5862951 | |||||
| chr1:5863137
|
T | G | 2 | a0001c0033t0003a0003c0007t0003 | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*128A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 30/30 | 128 | chr1 | 5863137 | |||||
| chr1:5863166
|
T | C | 2 | a0007c0026t0004a0007c0028t0004 | 2 | HG02280.hp2 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*99A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 30/30 | 99 | chr1 | 5863166 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:5863441
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4141-36G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 29/29 | chr1 | 5863441 | ||||||
| chr1:5863721
|
C | G | 2 | a0007c0026t0004g0205a0007c0028t0004g0002 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4140+169G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 29/29 | chr1 | 5863721 | ||||||
| chr1:5863728
|
T | G | 119 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0002t0001g0043others(116): Show | 120 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
intron_variant | MODIFIER | c.4140+162A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 29/29 | chr1 | 5863728 | ||||||
| chr1:5864210
|
T | C | 3 | a0001c0002t0001g0090a0014c0027t0001g0071a0015c0030t0001g0138 | 3 | HG01346.hp1 HG02055.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3996+128A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 28/29 | chr1 | 5864210 | ||||||
| chr1:5864269
|
G | A | 1 | a0001c0003t0001g0045 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3996+69C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 28/29 | chr1 | 5864269 | ||||||
| chr1:5864666
|
A | C | 14 | a0001c0002t0001g0143a0001c0002t0001g0144a0001c0002t0001g0147others(11): Show | 14 | HG00099.hp2 HG01081.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.3817-149T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864666 | ||||||
| chr1:5864679
|
C | T | 9 | a0001c0003t0001g0045a0001c0003t0001g0102a0001c0003t0001g0139others(6): Show | 9 | HG02647.hp1 HG02886.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.3817-162G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864679 | ||||||
| chr1:5864686
|
T | C | 75 | a0001c0002t0001g0043a0001c0002t0001g0090a0001c0002t0001g0106others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.3817-169A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864686 | ||||||
| chr1:5864767
|
C | G | 1 | a0001c0002t0001g0126 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.3817-250G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864767 | ||||||
| chr1:5864813
|
C | G | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3816+289G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864813 | ||||||
| chr1:5864821
|
G | A | 16 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0054others(13): Show | 16 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.3816+281C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864821 | ||||||
| chr1:5864980
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3816+122C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 27/29 | chr1 | 5864980 | ||||||
| chr1:5865311
|
G | A | 72 | a0001c0002t0001g0043a0001c0002t0001g0090a0001c0002t0001g0106others(69): Show | 72 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show |
intron_variant | MODIFIER | c.3645-38C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865311 | ||||||
| chr1:5865453
|
C | T | 3 | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0091 | 3 | HG00738.hp1 HG01258.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.3645-180G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865453 | ||||||
| chr1:5865607
|
G | C | 1 | a0001c0003t0001g0046 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3645-334C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865607 | ||||||
| chr1:5865653
|
C | T | 1 | a0001c0002t0001g0156 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3645-380G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865653 | ||||||
| chr1:5865741
|
C | T | 92 | a0001c0002t0001g0043a0001c0002t0001g0090a0001c0002t0001g0106others(89): Show | 92 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show |
intron_variant | MODIFIER | c.3645-468G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865741 | ||||||
| chr1:5865808
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3645-535C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865808 | ||||||
| chr1:5865895
|
T | C | 3 | a0001c0002t0001g0090a0014c0027t0001g0071a0015c0030t0001g0138 | 3 | HG01346.hp1 HG02055.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3644+478A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865895 | ||||||
| chr1:5865913
|
G | A | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3644+460C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865913 | ||||||
| chr1:5865953
|
C | T | 11 | a0001c0001t0001g0072a0001c0003t0001g0199a0001c0003t0001g0200others(8): Show | 11 | HG01433.hp2 HG02055.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.3644+420G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5865953 | ||||||
| chr1:5866278
|
G | A | 2 | a0007c0026t0004g0205a0007c0028t0004g0002 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3644+95C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 26/29 | chr1 | 5866278 | ||||||
| chr1:5866521
|
TA | T | 2 | a0001c0002t0001g0090a0014c0027t0001g0071 | 2 | HG01346.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.3559-64delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866521 | ||||||
| chr1:5866545
|
C | T | 8 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(5): Show | 8 | HG02055.hp1 HG02451.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.3559-87G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866545 | ||||||
| chr1:5866552
|
C | T | 2 | a0001c0005t0001g0163a0001c0005t0001g0166 | 2 | HG03209.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.3559-94G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866552 | ||||||
| chr1:5866598
|
G | A | 12 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0003t0001g0045others(9): Show | 12 | HG02258.hp2 HG02622.hp1 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.3559-140C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866598 | ||||||
| chr1:5866829
|
T | A | 1 | a0005c0018t0001g0122 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.3558+201A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866829 | ||||||
| chr1:5866971
|
A | G | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3558+59T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 25/29 | chr1 | 5866971 | ||||||
| chr1:5867306
|
G | A | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.3473-191C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867306 | ||||||
| chr1:5867447
|
G | C | 1 | a0007c0026t0004g0205 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3472+293C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867447 | ||||||
| chr1:5867638
|
C | A | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3472+102G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867638 | ||||||
| chr1:5867641
|
G | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3472+99C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867641 | ||||||
| chr1:5867656
|
A | G | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3472+84T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867656 | ||||||
| chr1:5867678
|
G | A | 23 | a0001c0001t0001g0033a0001c0004t0001g0044a0001c0004t0001g0058others(20): Show | 23 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.3472+62C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 24/29 | chr1 | 5867678 | ||||||
| chr1:5867940
|
G | A | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3316-44C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5867940 | ||||||
| chr1:5868073
|
C | T | 28 | a0001c0002t0001g0123a0001c0002t0001g0124a0001c0002t0001g0125others(25): Show | 28 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(25): Show |
intron_variant | MODIFIER | c.3316-177G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868073 | ||||||
| chr1:5868187
|
G | A | 1 | a0001c0004t0001g0178 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3316-291C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868187 | ||||||
| chr1:5868260
|
G | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0008c0037t0001g0006 | 3 | HG02258.hp2 HG02622.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3316-364C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868260 | ||||||
| chr1:5868282
|
G | C | 1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3316-386C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868282 | ||||||
| chr1:5868568
|
CCATACA | C | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3316-678_3316-673d others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868568 | ||||||
| chr1:5868645
|
T | C | 1 | a0001c0001t0001g0034 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.3316-749A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868645 | ||||||
| chr1:5868661
|
G | C | 25 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.3316-765C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868661 | ||||||
| chr1:5868685
|
T | C | 1 | a0001c0001t0001g0004 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3316-789A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868685 | ||||||
| chr1:5868686
|
A | C | 1 | a0001c0001t0001g0004 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3316-790T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868686 | ||||||
| chr1:5868702
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3316-806C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868702 | ||||||
| chr1:5868709
|
CCA | C | 59 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(56): Show | 59 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(56): Show |
intron_variant | MODIFIER | c.3316-815_3316-814d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868709 | ||||||
| chr1:5868727
|
G | A | 44 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(41): Show | 44 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show |
intron_variant | MODIFIER | c.3316-831C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868727 | ||||||
| chr1:5868732
|
CATGCATG others(19): Show |
C | 23 | a0001c0002t0001g0090a0001c0003t0001g0021a0001c0003t0001g0052others(20): Show | 24 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.3316-862_3316-837d others(28): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868732 | ||||||
| chr1:5868781
|
A | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3316-885T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868781 | ||||||
| chr1:5868822
|
A | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3316-926T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868822 | ||||||
| chr1:5868845
|
C | T | 1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3316-949G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868845 | ||||||
| chr1:5868941
|
CATGCACA others(8): Show |
C | 2 | a0001c0001t0001g0020a0001c0001t0001g0078 | 2 | HG00642.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.3316-1060_3316-104 others(19): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868941 | ||||||
| chr1:5868994
|
C | G | 69 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(66): Show | 69 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(66): Show |
intron_variant | MODIFIER | c.3316-1098G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5868994 | ||||||
| chr1:5869010
|
TAC | T | 24 | a0001c0002t0001g0090a0001c0003t0001g0021a0001c0003t0001g0052others(21): Show | 25 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.3316-1116_3316-111 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869010 | ||||||
| chr1:5869055
|
G | A | 2 | a0001c0003t0001g0021a0001c0003t0001g0066 | 2 | HG00639.hp2 HG01123.hp1 |
intron_variant | MODIFIER | c.3316-1159C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869055 | ||||||
| chr1:5869122
|
C | T | 2 | a0001c0002t0001g0106a0001c0023t0001g0062 | 2 | HG00280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3316-1226G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869122 | ||||||
| chr1:5869126
|
C | CCCA | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3316-1231_3316-123 others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869126 | ||||||
| chr1:5869127
|
A | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3316-1231T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869127 | ||||||
| chr1:5869142
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.3316-1246C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869142 | ||||||
| chr1:5869152
|
GCA | G | 3 | a0001c0003t0001g0021a0001c0003t0001g0066a0006c0012t0001g0023 | 3 | HG00639.hp2 HG01123.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.3316-1258_3316-125 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869152 | ||||||
| chr1:5869172
|
GCA | G | 3 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200 | 3 | HG02132.hp1 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3316-1278_3316-127 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869172 | ||||||
| chr1:5869216
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3316-1320A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869216 | ||||||
| chr1:5869233
|
G | GCA | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3316-1339_3316-133 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869233 | ||||||
| chr1:5869233
|
GCA | G | 2 | a0001c0005t0001g0172a0002c0031t0001g0137 | 2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.3316-1339_3316-133 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869233 | ||||||
| chr1:5869233
|
GCACA | G | 9 | a0001c0003t0001g0045a0001c0003t0001g0102a0001c0003t0001g0139others(6): Show | 9 | HG02647.hp1 HG02886.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.3316-1341_3316-133 others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869233 | ||||||
| chr1:5869241
|
A | ACACACAC others(7): Show |
1 | a0001c0002t0001g0144 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3316-1346_3316-134 others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869241 | ||||||
| chr1:5869241
|
A | ACACGCAC others(7): Show |
45 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(42): Show | 45 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(42): Show |
intron_variant | MODIFIER | c.3316-1346_3316-134 others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869241 | ||||||
| chr1:5869241
|
A | ACGCACCC others(5): Show |
22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3316-1346_3316-134 others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869241 | ||||||
| chr1:5869241
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3316-1345T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869241 | ||||||
| chr1:5869243
|
A | ACGCACCC others(5): Show |
1 | a0001c0002t0001g0201 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3316-1348_3316-134 others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869243 | ||||||
| chr1:5869251
|
A | G | 80 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(77): Show | 80 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.3316-1355T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869251 | ||||||
| chr1:5869283
|
A | C | 1 | a0001c0001t0001g0097 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.3316-1387T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869283 | ||||||
| chr1:5869298
|
C | CACAAATA others(3): Show |
1 | a0001c0003t0002g0203 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.3316-1412_3316-140 others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869298 | ||||||
| chr1:5869455
|
A | G | 1 | a0001c0004t0001g0174 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3316-1559T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869455 | ||||||
| chr1:5869479
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3316-1583A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869479 | ||||||
| chr1:5869712
|
G | A | 116 | a0001c0002t0001g0043a0001c0002t0001g0090a0001c0002t0001g0106others(113): Show | 117 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(114): Show |
intron_variant | MODIFIER | c.3316-1816C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869712 | ||||||
| chr1:5869772
|
T | C | 1 | a0001c0004t0001g0158 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.3316-1876A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5869772 | ||||||
| chr1:5870149
|
G | A | 29 | a0001c0002t0001g0123a0001c0002t0001g0124a0001c0002t0001g0125others(26): Show | 29 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(26): Show |
intron_variant | MODIFIER | c.3316-2253C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870149 | ||||||
| chr1:5870181
|
C | G | 1 | a0001c0002t0001g0124 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.3316-2285G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870181 | ||||||
| chr1:5870384
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3316-2488C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870384 | ||||||
| chr1:5870465
|
A | G | 66 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
intron_variant | MODIFIER | c.3316-2569T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870465 | ||||||
| chr1:5870520
|
T | C | 1 | a0001c0005t0001g0173 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3316-2624A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870520 | ||||||
| chr1:5870733
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.3315+2519C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870733 | ||||||
| chr1:5870778
|
TA | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3315+2473delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870778 | ||||||
| chr1:5870863
|
T | C | 66 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
intron_variant | MODIFIER | c.3315+2389A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870863 | ||||||
| chr1:5870895
|
A | G | 66 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
intron_variant | MODIFIER | c.3315+2357T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870895 | ||||||
| chr1:5870917
|
G | A | 66 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(63): Show | 66 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
intron_variant | MODIFIER | c.3315+2335C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870917 | ||||||
| chr1:5870959
|
G | C | 8 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(5): Show | 8 | HG02647.hp1 HG02896.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.3315+2293C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5870959 | ||||||
| chr1:5871145
|
A | G | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.3315+2107T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871145 | ||||||
| chr1:5871772
|
G | A | 2 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | HG02886.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3315+1480C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871772 | ||||||
| chr1:5871812
|
G | A | 2 | a0001c0003t0002g0203a0001c0003t0002g0204 | 2 | HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3315+1440C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871812 | ||||||
| chr1:5871861
|
A | G | 107 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0002t0001g0043others(104): Show | 107 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show |
intron_variant | MODIFIER | c.3315+1391T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871861 | ||||||
| chr1:5871864
|
A | G | 107 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0002t0001g0043others(104): Show | 107 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show |
intron_variant | MODIFIER | c.3315+1388T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871864 | ||||||
| chr1:5871972
|
A | C | 1 | a0001c0011t0001g0032 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3315+1280T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5871972 | ||||||
| chr1:5872006
|
GATT | G | 44 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(41): Show | 44 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show |
intron_variant | MODIFIER | c.3315+1243_3315+124 others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872006 | ||||||
| chr1:5872457
|
C | T | 44 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(41): Show | 44 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show |
intron_variant | MODIFIER | c.3315+795G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872457 | ||||||
| chr1:5872587
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3315+665A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872587 | ||||||
| chr1:5872618
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3315+634G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872618 | ||||||
| chr1:5872725
|
A | T | 1 | a0002c0006t0002g0195 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3315+527T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872725 | ||||||
| chr1:5872806
|
T | A | 1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3315+446A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5872806 | ||||||
| chr1:5873220
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3315+32G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 23/29 | chr1 | 5873220 | ||||||
| chr1:5873470
|
A | G | 15 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(12): Show | 15 | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.3232-135T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873470 | ||||||
| chr1:5873599
|
C | A | 12 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0003t0001g0045others(9): Show | 12 | HG02258.hp2 HG02622.hp1 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.3232-264G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873599 | ||||||
| chr1:5873703
|
C | T | 44 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(41): Show | 44 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show |
intron_variant | MODIFIER | c.3232-368G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873703 | ||||||
| chr1:5873716
|
A | G | 3 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136 | 3 | HG02647.hp1 HG02896.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3232-381T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873716 | ||||||
| chr1:5873800
|
A | C | 1 | a0001c0002t0001g0151 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3232-465T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873800 | ||||||
| chr1:5873974
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3231+497G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5873974 | ||||||
| chr1:5874042
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3231+429G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874042 | ||||||
| chr1:5874043
|
G | A | 1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3231+428C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874043 | ||||||
| chr1:5874072
|
T | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3231+399A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874072 | ||||||
| chr1:5874176
|
C | T | 65 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(62): Show | 65 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(62): Show |
intron_variant | MODIFIER | c.3231+295G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874176 | ||||||
| chr1:5874228
|
T | TAAAGAAA others(276): Show |
2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.3231+242_3231+243i others(285): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874228 | ||||||
| chr1:5874228
|
T | TAAAGAAA others(268): Show |
4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.3231+242_3231+243i others(277): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874228 | ||||||
| chr1:5874228
|
T | TAAAGAAA others(276): Show |
13 | a0001c0002t0001g0090a0001c0003t0001g0021a0001c0003t0001g0053others(10): Show | 13 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.3231+242_3231+243i others(285): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874228 | ||||||
| chr1:5874228
|
T | TAAAGAAA others(277): Show |
1 | a0014c0027t0001g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3231+242_3231+243i others(286): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874228 | ||||||
| chr1:5874228
|
T | TAAAGAAA others(282): Show |
1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3231+242_3231+243i others(291): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874228 | ||||||
| chr1:5874320
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3231+151G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874320 | ||||||
| chr1:5874364
|
G | A | 8 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(5): Show | 8 | HG02055.hp1 HG02451.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.3231+107C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874364 | ||||||
| chr1:5874426
|
C | T | 1 | a0001c0004t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3231+45G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874426 | ||||||
| chr1:5874430
|
A | G | 139 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0047others(136): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.3231+41T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874430 | ||||||
| chr1:5874440
|
T | C | 70 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0024others(67): Show | 70 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.3231+31A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | 5874440 | ||||||
| chr1:5874662
|
G | A | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | splice_region_variant&intron_variant | LOW | c.3045-5C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/29 | chr1 | 5874662 | ||||||
| chr1:5874777
|
C | T | 93 | a0001c0001t0001g0087a0001c0002t0001g0043a0001c0002t0001g0090others(90): Show | 94 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(91): Show |
intron_variant | MODIFIER | c.3044+97G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/29 | chr1 | 5874777 | ||||||
| chr1:5874784
|
C | T | 1 | a0001c0004t0001g0183 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3044+90G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/29 | chr1 | 5874784 | ||||||
| chr1:5874827
|
C | T | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3044+47G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/29 | chr1 | 5874827 | ||||||
| chr1:5874854
|
G | A | 1 | a0004c0016t0001g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.3044+20C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 21/29 | chr1 | 5874854 | ||||||
| chr1:5875102
|
T | A | 20 | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0018others(17): Show | 20 | HG00609.hp1 HG00735.hp2 HG00741.hp2 others(17): Show |
splice_acceptor_variant&intron_variant | HIGH | c.2818-2A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875102 | ||||||
| chr1:5875162
|
T | C | 92 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0029others(89): Show | 92 | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.2818-62A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875162 | ||||||
| chr1:5875265
|
G | A | 1 | a0001c0005t0001g0165 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2818-165C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875265 | ||||||
| chr1:5875299
|
G | A | 4 | a0001c0002t0001g0109a0001c0002t0001g0111a0001c0002t0001g0117others(1): Show | 4 | HG00099.hp1 HG00735.hp1 HG01192.hp2 others(1): Show |
intron_variant | MODIFIER | c.2818-199C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875299 | ||||||
| chr1:5875334
|
G | GT | 70 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(67): Show | 71 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
intron_variant | MODIFIER | c.2818-235dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875334 | ||||||
| chr1:5875341
|
C | T | 74 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0013others(71): Show | 75 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
intron_variant | MODIFIER | c.2818-241G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875341 | ||||||
| chr1:5875399
|
G | A | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.2818-299C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875399 | ||||||
| chr1:5875409
|
C | G | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2818-309G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875409 | ||||||
| chr1:5875409
|
C | T | 13 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065others(10): Show | 13 | HG02055.hp1 HG02258.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.2818-309G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875409 | ||||||
| chr1:5875533
|
C | T | 3 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065 | 3 | HG02258.hp1 HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.2818-433G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875533 | ||||||
| chr1:5875571
|
A | C | 1 | a0001c0001t0001g0014 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2818-471T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875571 | ||||||
| chr1:5875610
|
C | G | 60 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(57): Show | 60 | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.2818-510G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5875610 | ||||||
| chr1:5876088
|
G | A | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2818-988C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876088 | ||||||
| chr1:5876244
|
G | C | 23 | a0001c0003t0001g0045a0001c0003t0001g0046a0001c0004t0001g0044others(20): Show | 23 | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.2817+849C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876244 | ||||||
| chr1:5876365
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2817+728C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876365 | ||||||
| chr1:5876389
|
G | A | 3 | a0001c0003t0001g0067a0007c0026t0004g0205a0007c0028t0004g0002 | 3 | HG02280.hp2 HG02615.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2817+704C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876389 | ||||||
| chr1:5876412
|
C | A | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2817+681G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876412 | ||||||
| chr1:5876455
|
G | A | 1 | a0001c0002t0001g0160 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2817+638C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876455 | ||||||
| chr1:5876618
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2817+475C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876618 | ||||||
| chr1:5876770
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2817+323C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5876770 | ||||||
| chr1:5877031
|
T | C | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 179 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.2817+62A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5877031 | ||||||
| chr1:5877065
|
G | A | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2817+28C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 5877065 | ||||||
| chr1:5877319
|
G | A | 1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2612-21C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877319 | ||||||
| chr1:5877331
|
C | T | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.2612-33G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877331 | ||||||
| chr1:5877353
|
A | C | 77 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 77 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(74): Show |
intron_variant | MODIFIER | c.2612-55T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877353 | ||||||
| chr1:5877525
|
AGCAATTC others(8): Show |
A | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2612-242_2612-228d others(17): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877525 | ||||||
| chr1:5877582
|
T | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2612-284A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877582 | ||||||
| chr1:5877831
|
G | A | 18 | a0001c0001t0001g0074a0001c0002t0001g0159a0001c0002t0001g0160others(15): Show | 18 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(15): Show |
intron_variant | MODIFIER | c.2612-533C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5877831 | ||||||
| chr1:5878129
|
C | A | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2612-831G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878129 | ||||||
| chr1:5878174
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2612-876C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878174 | ||||||
| chr1:5878182
|
C | T | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2612-884G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878182 | ||||||
| chr1:5878260
|
C | A | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2612-962G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878260 | ||||||
| chr1:5878319
|
C | T | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2612-1021G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878319 | ||||||
| chr1:5878343
|
C | T | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2612-1045G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878343 | ||||||
| chr1:5878394
|
C | A | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2612-1096G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878394 | ||||||
| chr1:5878410
|
T | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2612-1112A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878410 | ||||||
| chr1:5878766
|
C | T | 14 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(11): Show | 14 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.2611+1348G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878766 | ||||||
| chr1:5878833
|
G | T | 1 | a0001c0001t0001g0091 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2611+1281C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5878833 | ||||||
| chr1:5879140
|
G | A | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2611+974C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879140 | ||||||
| chr1:5879386
|
G | A | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2611+728C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879386 | ||||||
| chr1:5879457
|
CTTCT | C | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2611+653_2611+656d others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879457 | ||||||
| chr1:5879484
|
T | G | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.2611+630A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879484 | ||||||
| chr1:5879617
|
G | C | 1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2611+497C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879617 | ||||||
| chr1:5879709
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2611+405C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879709 | ||||||
| chr1:5879774
|
TGC | T | 2 | a0001c0034t0006g0206a0015c0030t0001g0138 | 2 | HG02055.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.2611+338_2611+339d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879774 | ||||||
| chr1:5879774
|
TGCGCACA others(13): Show |
T | 1 | a0001c0005t0001g0165 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2611+320_2611+339d others(22): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879774 | ||||||
| chr1:5879775
|
G | GCA | 81 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(78): Show | 82 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2611+338_2611+339i others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879775 | ||||||
| chr1:5879777
|
G | A | 159 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 160 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(157): Show |
intron_variant | MODIFIER | c.2611+337C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879777 | ||||||
| chr1:5879780
|
CACACACA others(11): Show |
C | 16 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(13): Show | 16 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.2611+316_2611+333d others(20): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879780 | ||||||
| chr1:5879782
|
CACACACA others(9): Show |
C | 1 | a0001c0001t0001g0093 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2611+316_2611+331d others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879782 | ||||||
| chr1:5879795
|
G | A | 1 | a0001c0003t0001g0046 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2611+319C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879795 | ||||||
| chr1:5879797
|
A | G | 1 | a0001c0003t0001g0046 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2611+317T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879797 | ||||||
| chr1:5879798
|
A | C | 2 | a0001c0003t0001g0046a0001c0005t0001g0165 | 2 | HG02976.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2611+316T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879798 | ||||||
| chr1:5879800
|
C | A | 1 | a0001c0003t0001g0046 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2611+314G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879800 | ||||||
| chr1:5879807
|
ACACACGC others(35): Show |
A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2611+265_2611+306d others(44): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879807 | ||||||
| chr1:5879809
|
ACACGCAA others(33): Show |
A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2611+265_2611+304d others(42): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879809 | ||||||
| chr1:5879812
|
C | T | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2611+302G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879812 | ||||||
| chr1:5879813
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2611+301C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879813 | ||||||
| chr1:5879816
|
AAC | A | 70 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(67): Show | 70 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(67): Show |
intron_variant | MODIFIER | c.2611+296_2611+297d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879816 | ||||||
| chr1:5879822
|
CACACACA others(15): Show |
C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2611+270_2611+291d others(24): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879822 | ||||||
| chr1:5879824
|
CACACACG others(13): Show |
C | 3 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200 | 3 | HG02132.hp1 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2611+270_2611+289d others(22): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879824 | ||||||
| chr1:5879837
|
ACACACAG others(5): Show |
A | 1 | a0001c0001t0001g0038 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2611+265_2611+276d others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879837 | ||||||
| chr1:5879844
|
G | C | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2611+270C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879844 | ||||||
| chr1:5879892
|
C | T | 1 | a0001c0002t0001g0106 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2611+222G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879892 | ||||||
| chr1:5879995
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2611+119G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 19/29 | chr1 | 5879995 | ||||||
| chr1:5880376
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2486-137C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880376 | ||||||
| chr1:5880454
|
C | T | 1 | a0006c0012t0001g0069 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2486-215G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880454 | ||||||
| chr1:5880456
|
G | A | 1 | a0002c0031t0001g0137 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2486-217C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880456 | ||||||
| chr1:5880489
|
A | G | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2486-250T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880489 | ||||||
| chr1:5880590
|
C | T | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2486-351G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880590 | ||||||
| chr1:5880643
|
C | G | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.2486-404G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880643 | ||||||
| chr1:5880709
|
A | G | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2486-470T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880709 | ||||||
| chr1:5880784
|
T | C | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2486-545A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880784 | ||||||
| chr1:5880785
|
A | G | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 179 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.2486-546T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880785 | ||||||
| chr1:5880901
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2486-662G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880901 | ||||||
| chr1:5880921
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2486-682C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880921 | ||||||
| chr1:5880994
|
G | A | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2486-755C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5880994 | ||||||
| chr1:5881010
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2486-771G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881010 | ||||||
| chr1:5881014
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2486-775G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881014 | ||||||
| chr1:5881123
|
T | C | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.2486-884A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881123 | ||||||
| chr1:5881375
|
C | T | 77 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 77 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(74): Show |
intron_variant | MODIFIER | c.2486-1136G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881375 | ||||||
| chr1:5881388
|
G | A | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2486-1149C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881388 | ||||||
| chr1:5881487
|
C | A | 6 | a0001c0002t0001g0123a0001c0002t0001g0124a0001c0002t0001g0127others(3): Show | 6 | HG00408.hp2 HG01261.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.2486-1248G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881487 | ||||||
| chr1:5881516
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2486-1277G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881516 | ||||||
| chr1:5881593
|
T | C | 1 | a0004c0016t0001g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2486-1354A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881593 | ||||||
| chr1:5881785
|
C | T | 1 | a0001c0003t0001g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2486-1546G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881785 | ||||||
| chr1:5881925
|
G | A | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.2486-1686C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881925 | ||||||
| chr1:5881975
|
G | A | 24 | a0001c0002t0001g0090a0001c0003t0001g0021a0001c0003t0001g0052others(21): Show | 25 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.2486-1736C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5881975 | ||||||
| chr1:5882054
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2486-1815C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882054 | ||||||
| chr1:5882082
|
C | T | 1 | a0001c0002t0001g0130 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2486-1843G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882082 | ||||||
| chr1:5882100
|
C | T | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2486-1861G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882100 | ||||||
| chr1:5882101
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2486-1862C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882101 | ||||||
| chr1:5882166
|
ACTTACCC others(20): Show |
A | 31 | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0080others(28): Show | 32 | HG00609.hp1 HG01074.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.2486-1954_2486-192 others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882166 | ||||||
| chr1:5882166
|
ACTTACCC others(47): Show |
A | 2 | a0001c0003t0001g0133a0001c0003t0001g0142 | 2 | HG03710.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2486-1981_2486-192 others(58): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882166 | ||||||
| chr1:5882166
|
ACTTACCC others(74): Show |
A | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2486-2008_2486-192 others(85): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882166 | ||||||
| chr1:5882233
|
T | TCTCTCAG others(20): Show |
4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2486-1995_2486-199 others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882233 | ||||||
| chr1:5882243
|
GCGCGCTT others(101): Show |
G | 1 | a0001c0004t0001g0178 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2486-2112_2486-200 others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882243 | ||||||
| chr1:5882260
|
T | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2486-2021A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882260 | ||||||
| chr1:5882268
|
T | C | 1 | a0001c0003t0002g0204 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2486-2029A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882268 | ||||||
| chr1:5882324
|
GCGCGCTT others(20): Show |
G | 3 | a0004c0009t0001g0186a0004c0009t0001g0192a0004c0016t0001g0184 | 3 | HG00741.hp1 HG02602.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.2486-2112_2486-208 others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882324 | ||||||
| chr1:5882351
|
A | G | 20 | a0001c0003t0001g0057a0001c0004t0001g0044a0001c0004t0001g0058others(17): Show | 20 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(17): Show |
intron_variant | MODIFIER | c.2486-2112T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882351 | ||||||
| chr1:5882354
|
C | T | 1 | a0001c0003t0001g0068 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2486-2115G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882354 | ||||||
| chr1:5882374
|
A | T | 15 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(12): Show | 15 | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.2486-2135T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882374 | ||||||
| chr1:5882382
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2486-2143C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882382 | ||||||
| chr1:5882420
|
T | C | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2486-2181A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882420 | ||||||
| chr1:5882452
|
C | A | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2486-2213G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882452 | ||||||
| chr1:5882630
|
C | G | 24 | a0001c0001t0001g0009a0001c0004t0001g0044a0001c0004t0001g0058others(21): Show | 24 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.2486-2391G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882630 | ||||||
| chr1:5882687
|
A | G | 103 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(100): Show | 104 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.2486-2448T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882687 | ||||||
| chr1:5882741
|
T | C | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2486-2502A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882741 | ||||||
| chr1:5882746
|
G | A | 1 | a0017c0035t0001g0105 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2486-2507C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882746 | ||||||
| chr1:5882876
|
G | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010 | 3 | HG00280.hp2 HG03669.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.2486-2637C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5882876 | ||||||
| chr1:5883004
|
G | A | 1 | a0001c0001t0001g0036 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.2486-2765C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883004 | ||||||
| chr1:5883011
|
C | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2486-2772G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883011 | ||||||
| chr1:5883012
|
A | T | 1 | a0001c0002t0001g0159 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2486-2773T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883012 | ||||||
| chr1:5883061
|
ACTCT | A | 2 | a0001c0001t0001g0087a0001c0001t0001g0099 | 2 | HG02148.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.2486-2826_2486-282 others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883061 | ||||||
| chr1:5883142
|
A | C | 3 | a0001c0003t0001g0067a0007c0026t0004g0205a0007c0028t0004g0002 | 3 | HG02280.hp2 HG02615.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2486-2903T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883142 | ||||||
| chr1:5883196
|
C | T | 1 | a0017c0035t0001g0105 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2486-2957G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883196 | ||||||
| chr1:5883262
|
ACTCCGGG others(48): Show |
A | 1 | a0001c0003t0001g0133 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2486-3078_2486-302 others(59): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883262 | ||||||
| chr1:5883383
|
C | T | 1 | a0001c0002t0001g0150 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2486-3144G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883383 | ||||||
| chr1:5883551
|
T | G | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2486-3312A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883551 | ||||||
| chr1:5883752
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2486-3513C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883752 | ||||||
| chr1:5883875
|
G | GTCCGGAC others(4): Show |
22 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(19): Show | 22 | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.2485+3410_2485+341 others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5883875 | ||||||
| chr1:5884078
|
A | G | 163 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(160): Show | 164 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.2485+3208T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884078 | ||||||
| chr1:5884172
|
G | A | 2 | a0001c0001t0001g0016a0001c0025t0001g0079 | 2 | HG02109.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2485+3114C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884172 | ||||||
| chr1:5884217
|
C | G | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2485+3069G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884217 | ||||||
| chr1:5884417
|
A | G | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.2485+2869T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884417 | ||||||
| chr1:5884448
|
G | GACAACCA others(42): Show |
3 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136 | 3 | HG02647.hp1 HG02896.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2485+2789_2485+283 others(53): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884448 | ||||||
| chr1:5884448
|
GACAACCA others(42): Show |
G | 100 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(97): Show | 100 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.2485+2789_2485+283 others(53): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884448 | ||||||
| chr1:5884448
|
GACAACCA others(91): Show |
G | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2485+2740_2485+283 others(102): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884448 | ||||||
| chr1:5884578
|
G | A | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2485+2708C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884578 | ||||||
| chr1:5884586
|
G | A | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2485+2700C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884586 | ||||||
| chr1:5884603
|
A | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2485+2683T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884603 | ||||||
| chr1:5884634
|
C | T | 1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2485+2652G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884634 | ||||||
| chr1:5884635
|
G | A | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2485+2651C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884635 | ||||||
| chr1:5884676
|
G | A | 1 | a0001c0003t0001g0052 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2485+2610C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884676 | ||||||
| chr1:5884729
|
T | C | 1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2485+2557A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884729 | ||||||
| chr1:5884739
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2485+2547G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884739 | ||||||
| chr1:5884844
|
C | A | 47 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(44): Show | 47 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.2485+2442G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884844 | ||||||
| chr1:5884866
|
G | T | 3 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0051 | 3 | HG02886.hp2 HG02895.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2485+2420C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884866 | ||||||
| chr1:5884891
|
A | G | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2485+2395T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5884891 | ||||||
| chr1:5885007
|
G | A | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2485+2279C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885007 | ||||||
| chr1:5885142
|
G | A | 23 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(20): Show | 24 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.2485+2144C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885142 | ||||||
| chr1:5885201
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2485+2085C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885201 | ||||||
| chr1:5885211
|
C | T | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2485+2075G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885211 | ||||||
| chr1:5885217
|
C | T | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2485+2069G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885217 | ||||||
| chr1:5885305
|
G | A | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2485+1981C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885305 | ||||||
| chr1:5885423
|
T | C | 2 | a0001c0003t0002g0157a0010c0022t0005g0207 | 2 | HG02055.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2485+1863A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885423 | ||||||
| chr1:5885491
|
A | G | 1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2485+1795T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885491 | ||||||
| chr1:5885578
|
G | C | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2485+1708C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885578 | ||||||
| chr1:5885627
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2485+1659A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885627 | ||||||
| chr1:5885829
|
T | C | 1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2485+1457A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885829 | ||||||
| chr1:5885901
|
C | T | 4 | a0001c0004t0001g0044a0001c0004t0001g0178a0001c0004t0001g0181others(1): Show | 4 | HG00639.hp1 HG01074.hp2 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.2485+1385G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885901 | ||||||
| chr1:5885930
|
G | A | 103 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(100): Show | 104 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(101): Show |
intron_variant | MODIFIER | c.2485+1356C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5885930 | ||||||
| chr1:5886198
|
A | G | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2485+1088T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886198 | ||||||
| chr1:5886379
|
T | C | 22 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(19): Show | 22 | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.2485+907A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886379 | ||||||
| chr1:5886383
|
G | A | 47 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(44): Show | 47 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.2485+903C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886383 | ||||||
| chr1:5886483
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2485+803C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886483 | ||||||
| chr1:5886612
|
C | T | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2485+674G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886612 | ||||||
| chr1:5886676
|
C | G | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2485+610G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886676 | ||||||
| chr1:5886700
|
T | C | 1 | a0001c0005t0001g0170 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2485+586A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886700 | ||||||
| chr1:5886711
|
C | A | 1 | a0001c0002t0001g0148 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2485+575G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886711 | ||||||
| chr1:5886890
|
T | C | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.2485+396A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5886890 | ||||||
| chr1:5887157
|
G | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2485+129C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5887157 | ||||||
| chr1:5887248
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2485+38C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | 5887248 | ||||||
| chr1:5887476
|
A | C | 1 | a0001c0002t0001g0129 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2305-10T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5887476 | ||||||
| chr1:5887692
|
C | G | 1 | a0001c0002t0001g0043 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2305-226G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5887692 | ||||||
| chr1:5887879
|
C | T | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2305-413G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5887879 | ||||||
| chr1:5888000
|
G | A | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2305-534C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888000 | ||||||
| chr1:5888042
|
A | G | 6 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(3): Show | 6 | HG02055.hp1 HG02055.hp2 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-576T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888042 | ||||||
| chr1:5888062
|
G | A | 1 | a0001c0002t0001g0125 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2305-596C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888062 | ||||||
| chr1:5888088
|
C | T | 3 | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0036t0001g0040 | 3 | HG02015.hp1 HG02129.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.2305-622G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888088 | ||||||
| chr1:5888133
|
G | A | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2305-667C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888133 | ||||||
| chr1:5888205
|
C | T | 1 | a0001c0002t0001g0117 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2305-739G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888205 | ||||||
| chr1:5888393
|
C | T | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2305-927G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888393 | ||||||
| chr1:5888459
|
C | A | 1 | a0001c0005t0001g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2305-993G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888459 | ||||||
| chr1:5888617
|
G | A | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.2305-1151C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888617 | ||||||
| chr1:5888749
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2305-1283G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888749 | ||||||
| chr1:5888750
|
A | G | 1 | a0001c0001t0001g0004 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2305-1284T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888750 | ||||||
| chr1:5888788
|
C | T | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2305-1322G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888788 | ||||||
| chr1:5888804
|
C | T | 21 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(18): Show | 22 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.2305-1338G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888804 | ||||||
| chr1:5888886
|
C | T | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2305-1420G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888886 | ||||||
| chr1:5888947
|
G | C | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2305-1481C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888947 | ||||||
| chr1:5888958
|
T | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2305-1492A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5888958 | ||||||
| chr1:5889549
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2304+1319G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889549 | ||||||
| chr1:5889582
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2304+1286G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889582 | ||||||
| chr1:5889592
|
C | T | 15 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(12): Show | 15 | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.2304+1276G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889592 | ||||||
| chr1:5889730
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2304+1138G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889730 | ||||||
| chr1:5889829
|
C | G | 22 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(19): Show | 23 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.2304+1039G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889829 | ||||||
| chr1:5889886
|
C | G | 1 | a0001c0003t0001g0193 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2304+982G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5889886 | ||||||
| chr1:5890072
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2304+796C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890072 | ||||||
| chr1:5890091
|
A | G | 15 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(12): Show | 15 | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.2304+777T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890091 | ||||||
| chr1:5890280
|
A | G | 1 | a0005c0010t0001g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2304+588T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890280 | ||||||
| chr1:5890310
|
C | T | 2 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | HG02886.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2304+558G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890310 | ||||||
| chr1:5890460
|
G | A | 1 | a0001c0004t0001g0187 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.2304+408C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890460 | ||||||
| chr1:5890553
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2304+315G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890553 | ||||||
| chr1:5890770
|
T | C | 7 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(4): Show | 7 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.2304+98A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 17/29 | chr1 | 5890770 | ||||||
| chr1:5891296
|
A | C | 1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2144-268T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891296 | ||||||
| chr1:5891483
|
C | A | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2144-455G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891483 | ||||||
| chr1:5891515
|
A | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2144-487T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891515 | ||||||
| chr1:5891519
|
C | T | 21 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(18): Show | 22 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.2144-491G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891519 | ||||||
| chr1:5891578
|
G | A | 1 | a0003c0007t0003g0103 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2144-550C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891578 | ||||||
| chr1:5891751
|
C | T | 1 | a0001c0011t0001g0035 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2144-723G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891751 | ||||||
| chr1:5891979
|
G | T | 1 | a0001c0001t0001g0029 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.2144-951C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5891979 | ||||||
| chr1:5892044
|
T | C | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2144-1016A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892044 | ||||||
| chr1:5892109
|
G | A | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2144-1081C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892109 | ||||||
| chr1:5892212
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2144-1184G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892212 | ||||||
| chr1:5892256
|
G | A | 1 | a0004c0009t0001g0186 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2144-1228C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892256 | ||||||
| chr1:5892365
|
A | T | 1 | a0001c0001t0001g0014 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2144-1337T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892365 | ||||||
| chr1:5892407
|
C | G | 1 | a0001c0003t0001g0068 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2144-1379G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892407 | ||||||
| chr1:5892536
|
A | G | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2144-1508T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892536 | ||||||
| chr1:5892597
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2144-1569C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892597 | ||||||
| chr1:5892666
|
C | T | 24 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(21): Show | 24 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.2144-1638G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892666 | ||||||
| chr1:5892704
|
C | T | 6 | a0001c0005t0001g0169a0001c0005t0001g0170a0001c0005t0001g0171others(3): Show | 6 | HG02647.hp2 HG02895.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.2144-1676G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892704 | ||||||
| chr1:5892734
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2144-1706C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892734 | ||||||
| chr1:5892755
|
G | A | 1 | a0001c0011t0001g0032 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2144-1727C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892755 | ||||||
| chr1:5892896
|
C | A | 1 | a0001c0003t0001g0056 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2144-1868G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892896 | ||||||
| chr1:5892906
|
C | T | 3 | a0001c0003t0001g0067a0007c0026t0004g0205a0007c0028t0004g0002 | 3 | HG02280.hp2 HG02615.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2144-1878G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5892906 | ||||||
| chr1:5893011
|
G | C | 3 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200 | 3 | HG02132.hp1 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2144-1983C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893011 | ||||||
| chr1:5893088
|
C | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2144-2060G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893088 | ||||||
| chr1:5893122
|
T | C | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2144-2094A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893122 | ||||||
| chr1:5893187
|
G | A | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2144-2159C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893187 | ||||||
| chr1:5893285
|
C | T | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2144-2257G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893285 | ||||||
| chr1:5893372
|
T | A | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02055.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2144-2344A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893372 | ||||||
| chr1:5893378
|
A | G | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2144-2350T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893378 | ||||||
| chr1:5893397
|
T | C | 2 | a0001c0003t0001g0119a0015c0030t0001g0138 | 2 | HG02055.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.2144-2369A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893397 | ||||||
| chr1:5893405
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2144-2377G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893405 | ||||||
| chr1:5893407
|
C | T | 3 | a0001c0002t0001g0108a0001c0003t0001g0119a0015c0030t0001g0138 | 3 | HG02055.hp2 HG02132.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.2144-2379G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893407 | ||||||
| chr1:5893415
|
G | A | 1 | a0001c0001t0001g0080 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2144-2387C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893415 | ||||||
| chr1:5893434
|
A | C | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.2144-2406T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893434 | ||||||
| chr1:5893439
|
T | C | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.2144-2411A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893439 | ||||||
| chr1:5893550
|
T | A | 1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2144-2522A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893550 | ||||||
| chr1:5893637
|
G | A | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2144-2609C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893637 | ||||||
| chr1:5893727
|
G | A | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.2144-2699C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893727 | ||||||
| chr1:5893751
|
G | A | 2 | a0001c0001t0001g0092a0001c0002t0001g0106 | 2 | HG00280.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.2144-2723C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893751 | ||||||
| chr1:5893790
|
G | A | 2 | a0001c0003t0002g0203a0001c0003t0002g0204 | 2 | HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2144-2762C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893790 | ||||||
| chr1:5893802
|
C | A | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2144-2774G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5893802 | ||||||
| chr1:5894149
|
C | T | 24 | a0001c0002t0001g0090a0001c0003t0001g0021a0001c0003t0001g0052others(21): Show | 25 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.2144-3121G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894149 | ||||||
| chr1:5894336
|
C | T | 1 | a0001c0002t0001g0132 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2144-3308G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894336 | ||||||
| chr1:5894399
|
G | A | 14 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(11): Show | 14 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.2144-3371C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894399 | ||||||
| chr1:5894403
|
T | C | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2144-3375A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894403 | ||||||
| chr1:5894407
|
G | A | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.2144-3379C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894407 | ||||||
| chr1:5894449
|
CA | C | 27 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(24): Show | 27 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(24): Show |
intron_variant | MODIFIER | c.2144-3422delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894449 | ||||||
| chr1:5894581
|
A | C | 12 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(9): Show | 12 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.2144-3553T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894581 | ||||||
| chr1:5894766
|
A | G | 1 | a0003c0007t0003g0104 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2144-3738T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894766 | ||||||
| chr1:5894892
|
C | G | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2144-3864G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5894892 | ||||||
| chr1:5895032
|
A | G | 3 | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0036t0001g0040 | 3 | HG02015.hp1 HG02129.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.2144-4004T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895032 | ||||||
| chr1:5895298
|
GT | G | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.2144-4271delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895298 | ||||||
| chr1:5895333
|
T | TA | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.2144-4306dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895333 | ||||||
| chr1:5895425
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2144-4397C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895425 | ||||||
| chr1:5895459
|
C | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2144-4431G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895459 | ||||||
| chr1:5895649
|
A | G | 23 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(20): Show | 23 | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.2144-4621T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895649 | ||||||
| chr1:5895665
|
G | A | 1 | a0005c0018t0001g0122 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2144-4637C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895665 | ||||||
| chr1:5895781
|
A | G | 48 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(45): Show | 48 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(45): Show |
intron_variant | MODIFIER | c.2144-4753T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895781 | ||||||
| chr1:5895933
|
T | C | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2144-4905A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895933 | ||||||
| chr1:5895979
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2144-4951G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5895979 | ||||||
| chr1:5896048
|
G | T | 13 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(10): Show | 13 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.2144-5020C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896048 | ||||||
| chr1:5896227
|
G | A | 1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2144-5199C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896227 | ||||||
| chr1:5896274
|
C | T | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2144-5246G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896274 | ||||||
| chr1:5896395
|
T | C | 1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2144-5367A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896395 | ||||||
| chr1:5896763
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2144-5735G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896763 | ||||||
| chr1:5896848
|
A | G | 1 | a0001c0001t0001g0034 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.2144-5820T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896848 | ||||||
| chr1:5896849
|
C | A | 35 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(32): Show | 35 | HG00140.hp1 HG00544.hp2 HG00609.hp2 others(32): Show |
intron_variant | MODIFIER | c.2144-5821G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896849 | ||||||
| chr1:5896896
|
G | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2144-5868C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896896 | ||||||
| chr1:5896968
|
C | G | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2144-5940G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5896968 | ||||||
| chr1:5897282
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2144-6254C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897282 | ||||||
| chr1:5897526
|
G | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2144-6498C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897526 | ||||||
| chr1:5897529
|
A | G | 43 | a0001c0001t0001g0026a0001c0003t0001g0021a0001c0003t0001g0053others(40): Show | 43 | HG00140.hp2 HG00544.hp1 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.2144-6501T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897529 | ||||||
| chr1:5897541
|
C | T | 13 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(10): Show | 13 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.2144-6513G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897541 | ||||||
| chr1:5897605
|
G | A | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2144-6577C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897605 | ||||||
| chr1:5897665
|
G | A | 23 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(20): Show | 23 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.2144-6637C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897665 | ||||||
| chr1:5897667
|
C | T | 1 | a0001c0005t0001g0170 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2144-6639G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897667 | ||||||
| chr1:5897673
|
C | T | 5 | a0001c0005t0001g0163a0001c0005t0001g0164a0001c0005t0001g0165others(2): Show | 5 | HG02280.hp1 HG02976.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.2144-6645G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5897673 | ||||||
| chr1:5898022
|
G | A | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2143+6595C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898022 | ||||||
| chr1:5898124
|
T | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
intron_variant | MODIFIER | c.2143+6493A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898124 | ||||||
| chr1:5898125
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2143+6492C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898125 | ||||||
| chr1:5898248
|
C | T | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2143+6369G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898248 | ||||||
| chr1:5898308
|
G | A | 1 | a0017c0035t0001g0105 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2143+6309C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898308 | ||||||
| chr1:5898349
|
T | C | 25 | a0001c0003t0001g0119a0001c0003t0001g0199a0001c0003t0001g0200others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2143+6268A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898349 | ||||||
| chr1:5898468
|
C | G | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.2143+6149G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898468 | ||||||
| chr1:5898523
|
C | T | 1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2143+6094G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898523 | ||||||
| chr1:5898723
|
G | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2143+5894C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898723 | ||||||
| chr1:5898843
|
G | GCA | 18 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(15): Show | 18 | HG02132.hp1 HG02145.hp1 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.2143+5772_2143+577 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898843 | ||||||
| chr1:5898843
|
G | GCACACA | 2 | a0001c0003t0002g0157a0010c0022t0005g0207 | 2 | HG02055.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2143+5768_2143+577 others(10): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898843 | ||||||
| chr1:5898843
|
G | GCACACAC others(1): Show |
3 | a0001c0003t0002g0203a0001c0003t0002g0204a0007c0026t0004g0205 | 3 | HG02280.hp2 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2143+5766_2143+577 others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5898843 | ||||||
| chr1:5899168
|
G | A | 1 | a0004c0009t0001g0192 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2143+5449C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899168 | ||||||
| chr1:5899241
|
A | T | 22 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(19): Show | 23 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.2143+5376T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899241 | ||||||
| chr1:5899311
|
G | A | 1 | a0001c0002t0001g0128 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2143+5306C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899311 | ||||||
| chr1:5899325
|
C | G | 3 | a0001c0008t0001g0146a0001c0008t0001g0152a0001c0008t0001g0153 | 3 | HG00099.hp2 HG01081.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2143+5292G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899325 | ||||||
| chr1:5899382
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2143+5235G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899382 | ||||||
| chr1:5899509
|
G | A | 2 | a0001c0003t0002g0203a0001c0003t0002g0204 | 2 | HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2143+5108C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899509 | ||||||
| chr1:5899520
|
C | G | 3 | a0001c0003t0001g0067a0007c0026t0004g0205a0007c0028t0004g0002 | 3 | HG02280.hp2 HG02615.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2143+5097G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899520 | ||||||
| chr1:5899576
|
T | A | 1 | a0001c0001t0001g0101 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2143+5041A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899576 | ||||||
| chr1:5899706
|
C | T | 14 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(11): Show | 14 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.2143+4911G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5899706 | ||||||
| chr1:5900239
|
A | T | 1 | a0001c0001t0001g0092 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2143+4378T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900239 | ||||||
| chr1:5900258
|
C | T | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.2143+4359G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900258 | ||||||
| chr1:5900279
|
T | C | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.2143+4338A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900279 | ||||||
| chr1:5900315
|
C | A | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2143+4302G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900315 | ||||||
| chr1:5900443
|
A | G | 84 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(81): Show | 84 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.2143+4174T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900443 | ||||||
| chr1:5900490
|
G | C | 11 | a0001c0005t0001g0162a0001c0005t0001g0164a0001c0005t0001g0165others(8): Show | 11 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.2143+4127C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900490 | ||||||
| chr1:5900571
|
G | A | 7 | a0001c0001t0001g0077a0001c0033t0003g0019a0003c0007t0003g0001others(4): Show | 8 | HG00738.hp1 HG01884.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+4046C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900571 | ||||||
| chr1:5900616
|
T | C | 19 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(16): Show | 19 | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.2143+4001A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900616 | ||||||
| chr1:5900770
|
C | T | 25 | a0001c0003t0002g0203a0001c0003t0002g0204a0001c0004t0001g0044others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.2143+3847G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900770 | ||||||
| chr1:5900899
|
G | A | 1 | a0001c0002t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2143+3718C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900899 | ||||||
| chr1:5900924
|
T | A | 16 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(13): Show | 16 | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.2143+3693A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900924 | ||||||
| chr1:5900958
|
C | T | 70 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(67): Show | 70 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(67): Show |
intron_variant | MODIFIER | c.2143+3659G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5900958 | ||||||
| chr1:5901046
|
A | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2143+3571T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901046 | ||||||
| chr1:5901127
|
C | T | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2143+3490G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901127 | ||||||
| chr1:5901243
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2143+3374C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901243 | ||||||
| chr1:5901592
|
G | A | 8 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(5): Show | 8 | HG02109.hp1 HG02258.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+3025C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901592 | ||||||
| chr1:5901621
|
C | G | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+2996G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901621 | ||||||
| chr1:5901727
|
CT | C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+2889delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901727 | ||||||
| chr1:5901791
|
C | T | 1 | a0001c0001t0001g0031 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2143+2826G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901791 | ||||||
| chr1:5901810
|
G | A | 160 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(157): Show | 161 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(158): Show |
intron_variant | MODIFIER | c.2143+2807C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901810 | ||||||
| chr1:5901852
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2143+2765C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901852 | ||||||
| chr1:5901955
|
C | A | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2143+2662G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5901955 | ||||||
| chr1:5902435
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2143+2182A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5902435 | ||||||
| chr1:5902598
|
AT | A | 5 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | HG00738.hp2 HG02886.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.2143+2018delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5902598 | ||||||
| chr1:5902665
|
T | C | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2143+1952A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5902665 | ||||||
| chr1:5902680
|
A | C | 3 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0051 | 3 | HG02886.hp2 HG02895.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2143+1937T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5902680 | ||||||
| chr1:5902729
|
C | T | 1 | a0001c0005t0001g0164 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2143+1888G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5902729 | ||||||
| chr1:5903475
|
C | G | 5 | a0001c0002t0001g0123a0001c0002t0001g0124a0001c0002t0001g0128others(2): Show | 5 | HG00408.hp2 HG02155.hp2 NA18944.hp2 others(2): Show |
intron_variant | MODIFIER | c.2143+1142G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5903475 | ||||||
| chr1:5903497
|
T | A | 2 | a0007c0026t0004g0205a0007c0028t0004g0002 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2143+1120A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5903497 | ||||||
| chr1:5903609
|
A | C | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.2143+1008T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5903609 | ||||||
| chr1:5903755
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+862C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5903755 | ||||||
| chr1:5903857
|
T | C | 9 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(6): Show | 9 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.2143+760A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5903857 | ||||||
| chr1:5904143
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+474G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5904143 | ||||||
| chr1:5904149
|
C | T | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2143+468G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5904149 | ||||||
| chr1:5904431
|
G | A | 8 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(5): Show | 8 | HG03041.hp2 HG03130.hp1 HG03453.hp2 others(5): Show |
intron_variant | MODIFIER | c.2143+186C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 16/29 | chr1 | 5904431 | ||||||
| chr1:5904931
|
T | C | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.1956-127A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 15/29 | chr1 | 5904931 | ||||||
| chr1:5904973
|
G | T | 1 | a0001c0003t0001g0064 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1956-169C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 15/29 | chr1 | 5904973 | ||||||
| chr1:5904991
|
C | G | 2 | a0001c0003t0001g0067a0001c0034t0006g0206 | 2 | HG02615.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1956-187G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 15/29 | chr1 | 5904991 | ||||||
| chr1:5905119
|
A | G | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.1955+173T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 15/29 | chr1 | 5905119 | ||||||
| chr1:5905510
|
C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0015 | 3 | HG02615.hp2 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1764-27G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 14/29 | chr1 | 5905510 | ||||||
| chr1:5905590
|
C | T | 1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1763+42G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 14/29 | chr1 | 5905590 | ||||||
| chr1:5905610
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1763+22G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 14/29 | chr1 | 5905610 | ||||||
| chr1:5905816
|
C | A | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1612-33G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5905816 | ||||||
| chr1:5905844
|
G | A | 1 | a0002c0006t0002g0195 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1612-61C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5905844 | ||||||
| chr1:5906059
|
T | C | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.1612-276A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906059 | ||||||
| chr1:5906601
|
A | G | 9 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(6): Show | 9 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1611+514T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906601 | ||||||
| chr1:5906626
|
C | T | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1611+489G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906626 | ||||||
| chr1:5906688
|
C | G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1611+427G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906688 | ||||||
| chr1:5906823
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1611+292G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906823 | ||||||
| chr1:5906991
|
T | G | 8 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(5): Show | 8 | HG03041.hp2 HG03130.hp1 HG03453.hp2 others(5): Show |
intron_variant | MODIFIER | c.1611+124A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5906991 | ||||||
| chr1:5907004
|
G | T | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1611+111C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5907004 | ||||||
| chr1:5907106
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1611+9C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 13/29 | chr1 | 5907106 | ||||||
| chr1:5907255
|
A | G | 1 | a0001c0002t0001g0131 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1504-33T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907255 | ||||||
| chr1:5907323
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1504-101C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907323 | ||||||
| chr1:5907600
|
G | A | 1 | a0002c0006t0001g0135 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1504-378C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907600 | ||||||
| chr1:5907653
|
G | A | 3 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204 | 3 | HG02055.hp1 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1504-431C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907653 | ||||||
| chr1:5907690
|
C | T | 20 | a0001c0004t0001g0044a0001c0004t0001g0158a0001c0004t0001g0174others(17): Show | 20 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(17): Show |
intron_variant | MODIFIER | c.1504-468G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907690 | ||||||
| chr1:5907706
|
G | GTGA | 140 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(137): Show | 141 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.1504-485_1504-484i others(5): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907706 | ||||||
| chr1:5907717
|
G | A | 1 | a0002c0006t0002g0197 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1504-495C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907717 | ||||||
| chr1:5907920
|
A | T | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1504-698T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907920 | ||||||
| chr1:5907989
|
C | T | 3 | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0003t0001g0046 | 3 | HG02895.hp1 HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1504-767G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5907989 | ||||||
| chr1:5908142
|
G | T | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1504-920C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908142 | ||||||
| chr1:5908501
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1503+651A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908501 | ||||||
| chr1:5908533
|
C | A | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1503+619G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908533 | ||||||
| chr1:5908561
|
G | A | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.1503+591C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908561 | ||||||
| chr1:5908562
|
G | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1503+590C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908562 | ||||||
| chr1:5908596
|
G | A | 3 | a0001c0003t0001g0055a0001c0003t0001g0059a0001c0003t0001g0063 | 3 | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1503+556C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908596 | ||||||
| chr1:5908610
|
C | T | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1503+542G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908610 | ||||||
| chr1:5908624
|
T | C | 2 | a0001c0005t0001g0164a0001c0005t0001g0165 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1503+528A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908624 | ||||||
| chr1:5908739
|
C | T | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1503+413G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908739 | ||||||
| chr1:5908743
|
A | T | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1503+409T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5908743 | ||||||
| chr1:5909079
|
G | A | 1 | a0001c0002t0001g0112 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1503+73C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 12/29 | chr1 | 5909079 | ||||||
| chr1:5909220
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
splice_region_variant&intron_variant | LOW | c.1442-7C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909220 | ||||||
| chr1:5909325
|
G | A | 1 | a0001c0001t0001g0048 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1442-112C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909325 | ||||||
| chr1:5909340
|
G | A | 1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1442-127C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909340 | ||||||
| chr1:5909402
|
A | G | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-189T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909402 | ||||||
| chr1:5909440
|
C | A | 1 | a0006c0012t0001g0023 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1442-227G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909440 | ||||||
| chr1:5909451
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1442-238C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909451 | ||||||
| chr1:5909722
|
C | T | 28 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(25): Show | 28 | HG00544.hp2 HG00609.hp2 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.1442-509G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909722 | ||||||
| chr1:5909756
|
G | A | 1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1442-543C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909756 | ||||||
| chr1:5909763
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-550G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909763 | ||||||
| chr1:5909780
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-567A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5909780 | ||||||
| chr1:5910001
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-788G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910001 | ||||||
| chr1:5910155
|
C | A | 1 | a0001c0003t0001g0056 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1442-942G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910155 | ||||||
| chr1:5910196
|
G | C | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1442-983C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910196 | ||||||
| chr1:5910205
|
G | A | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1442-992C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910205 | ||||||
| chr1:5910307
|
C | T | 28 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(25): Show | 28 | HG00544.hp2 HG00609.hp2 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.1442-1094G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910307 | ||||||
| chr1:5910578
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-1365C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910578 | ||||||
| chr1:5910755
|
G | A | 1 | a0001c0002t0001g0106 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1442-1542C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5910755 | ||||||
| chr1:5911033
|
A | G | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1442-1820T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911033 | ||||||
| chr1:5911164
|
G | T | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1442-1951C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911164 | ||||||
| chr1:5911183
|
C | G | 52 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(49): Show | 52 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.1442-1970G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911183 | ||||||
| chr1:5911236
|
C | CAT | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-2025_1442-202 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911236 | ||||||
| chr1:5911254
|
G | A | 52 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(49): Show | 52 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.1442-2041C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911254 | ||||||
| chr1:5911259
|
A | C | 52 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(49): Show | 52 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.1442-2046T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911259 | ||||||
| chr1:5911395
|
A | G | 176 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | 177 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(174): Show |
intron_variant | MODIFIER | c.1442-2182T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911395 | ||||||
| chr1:5911436
|
G | A | 7 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(4): Show | 8 | HG01884.hp2 HG02055.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1442-2223C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911436 | ||||||
| chr1:5911525
|
G | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-2312C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911525 | ||||||
| chr1:5911594
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-2381T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911594 | ||||||
| chr1:5911875
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-2662G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911875 | ||||||
| chr1:5911890
|
G | A | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1442-2677C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5911890 | ||||||
| chr1:5912014
|
C | T | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1442-2801G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912014 | ||||||
| chr1:5912167
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-2954G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912167 | ||||||
| chr1:5912277
|
G | A | 1 | a0001c0004t0001g0181 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1442-3064C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912277 | ||||||
| chr1:5912305
|
G | T | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1442-3092C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912305 | ||||||
| chr1:5912379
|
A | C | 1 | a0001c0002t0001g0175 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1442-3166T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912379 | ||||||
| chr1:5912408
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1442-3195C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912408 | ||||||
| chr1:5912431
|
A | G | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1442-3218T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912431 | ||||||
| chr1:5912486
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-3273G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912486 | ||||||
| chr1:5912493
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-3280C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912493 | ||||||
| chr1:5912537
|
C | CA | 5 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0199others(2): Show | 5 | HG02056.hp1 HG02258.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-3325dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912537 | ||||||
| chr1:5912537
|
CAAAAAAA | C | 9 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(6): Show | 9 | HG02109.hp1 HG02258.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.1442-3331_1442-332 others(11): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912537 | ||||||
| chr1:5912548
|
AAAAAAAA others(1): Show |
A | 51 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(48): Show | 51 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(48): Show |
intron_variant | MODIFIER | c.1442-3343_1442-333 others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912548 | ||||||
| chr1:5912549
|
A | G | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1442-3336T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912549 | ||||||
| chr1:5912551
|
A | G | 1 | a0001c0001t0001g0013 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1442-3338T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912551 | ||||||
| chr1:5912556
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-3343C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912556 | ||||||
| chr1:5912581
|
G | T | 3 | a0001c0003t0001g0199a0001c0003t0001g0200a0010c0022t0005g0207 | 3 | HG03453.hp2 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-3368C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912581 | ||||||
| chr1:5912693
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-3480C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912693 | ||||||
| chr1:5912711
|
A | G | 1 | a0001c0001t0001g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1442-3498T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912711 | ||||||
| chr1:5912754
|
C | G | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.1442-3541G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912754 | ||||||
| chr1:5912970
|
G | A | 4 | a0001c0033t0003g0019a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1442-3757C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5912970 | ||||||
| chr1:5913105
|
C | T | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.1442-3892G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913105 | ||||||
| chr1:5913151
|
CA | C | 75 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(72): Show | 75 | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.1442-3939delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913151 | ||||||
| chr1:5913151
|
CAA | C | 17 | a0001c0001t0001g0049a0001c0001t0001g0075a0001c0004t0001g0158others(14): Show | 17 | HG01261.hp1 HG02055.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.1442-3940_1442-393 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913151 | ||||||
| chr1:5913222
|
G | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1442-4009C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913222 | ||||||
| chr1:5913226
|
C | G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1442-4013G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913226 | ||||||
| chr1:5913400
|
T | G | 2 | a0001c0001t0001g0011a0001c0001t0001g0089 | 2 | HG00140.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1442-4187A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913400 | ||||||
| chr1:5913597
|
C | T | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1442-4384G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913597 | ||||||
| chr1:5913715
|
G | A | 82 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(79): Show | 82 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.1442-4502C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913715 | ||||||
| chr1:5913844
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-4631G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5913844 | ||||||
| chr1:5914053
|
C | A | 9 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(6): Show | 9 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1442-4840G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914053 | ||||||
| chr1:5914067
|
G | A | 3 | a0001c0001t0001g0080a0001c0003t0001g0199a0001c0003t0001g0200 | 3 | HG00609.hp1 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-4854C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914067 | ||||||
| chr1:5914118
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-4905C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914118 | ||||||
| chr1:5914257
|
C | CA | 18 | a0001c0002t0001g0108a0001c0002t0001g0109a0001c0002t0001g0110others(15): Show | 18 | HG00099.hp2 HG00544.hp1 HG00642.hp1 others(15): Show |
intron_variant | MODIFIER | c.1442-5045dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAA | 6 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0051others(3): Show | 6 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1442-5046_1442-504 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAA | 23 | a0001c0001t0001g0017a0001c0001t0001g0026a0001c0001t0001g0048others(20): Show | 23 | HG00735.hp2 HG00738.hp1 HG01258.hp1 others(20): Show |
intron_variant | MODIFIER | c.1442-5047_1442-504 others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAAA | 14 | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0037others(11): Show | 14 | HG00558.hp1 HG00609.hp1 HG00642.hp2 others(11): Show |
intron_variant | MODIFIER | c.1442-5048_1442-504 others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAAAA | 16 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(13): Show | 16 | HG00597.hp1 HG00609.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.1442-5049_1442-504 others(9): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAAAAA | 11 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011others(8): Show | 11 | HG00140.hp1 HG02559.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1442-5050_1442-504 others(10): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAAAAAA | 6 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0028others(3): Show | 6 | HG00280.hp2 HG00544.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.1442-5051_1442-504 others(11): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
C | CAAAAAAA others(10): Show |
1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1442-5061_1442-504 others(21): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CA | C | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 18 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.1442-5045delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0001g0084 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1442-5054_1442-504 others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CAAAAAAA others(4): Show |
C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1442-5055_1442-504 others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CAAAAAAA others(7): Show |
C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1442-5058_1442-504 others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0002t0001g0201 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1442-5060_1442-504 others(20): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914257
|
CAAAAAAA others(12): Show |
C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-5063_1442-504 others(23): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914257 | ||||||
| chr1:5914259
|
A | C | 8 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065others(5): Show | 9 | HG01884.hp2 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1442-5046T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914259 | ||||||
| chr1:5914286
|
A | AAAAAAAA others(9): Show |
1 | a0001c0005t0001g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1442-5074_1442-507 others(20): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914286 | ||||||
| chr1:5914286
|
A | AAAAAAAA others(6): Show |
2 | a0001c0005t0001g0167a0001c0005t0001g0173 | 2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1442-5074_1442-507 others(17): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914286 | ||||||
| chr1:5914286
|
A | AAAAAAAA others(5): Show |
4 | a0001c0005t0001g0169a0001c0005t0001g0170a0001c0005t0001g0171others(1): Show | 4 | HG02647.hp2 HG02895.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.1442-5074_1442-507 others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914286 | ||||||
| chr1:5914286
|
A | AAAAAAAA others(4): Show |
5 | a0001c0005t0001g0164a0001c0005t0001g0165a0001c0005t0001g0166others(2): Show | 5 | HG02280.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1442-5074_1442-507 others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914286 | ||||||
| chr1:5914286
|
A | AAAAAAAA others(3): Show |
1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1442-5074_1442-507 others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914286 | ||||||
| chr1:5914299
|
T | C | 20 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(17): Show | 20 | HG00544.hp2 HG00609.hp2 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.1442-5086A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914299 | ||||||
| chr1:5914420
|
T | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-5207A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914420 | ||||||
| chr1:5914739
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1442-5526C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914739 | ||||||
| chr1:5914774
|
T | A | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1442-5561A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914774 | ||||||
| chr1:5914924
|
C | A | 1 | a0001c0001t0001g0031 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1442-5711G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914924 | ||||||
| chr1:5914959
|
A | C | 1 | a0002c0006t0001g0135 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1442-5746T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914959 | ||||||
| chr1:5914990
|
A | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-5777T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5914990 | ||||||
| chr1:5915019
|
C | G | 1 | a0001c0001t0001g0014 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1442-5806G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915019 | ||||||
| chr1:5915148
|
G | A | 1 | a0001c0003t0002g0203 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1442-5935C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915148 | ||||||
| chr1:5915196
|
C | CG | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1442-5984dupC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915196 | ||||||
| chr1:5915554
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1442-6341A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915554 | ||||||
| chr1:5915610
|
A | G | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1442-6397T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915610 | ||||||
| chr1:5915627
|
C | A | 1 | a0001c0002t0001g0106 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1442-6414G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915627 | ||||||
| chr1:5915627
|
C | G | 1 | a0001c0002t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1442-6414G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915627 | ||||||
| chr1:5915689
|
T | A | 7 | a0001c0002t0001g0043a0001c0002t0001g0109a0001c0002t0001g0110others(4): Show | 7 | HG00099.hp1 HG00735.hp1 HG01074.hp1 others(4): Show |
intron_variant | MODIFIER | c.1442-6476A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915689 | ||||||
| chr1:5915714
|
C | T | 1 | a0001c0001t0001g0077 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1442-6501G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915714 | ||||||
| chr1:5915895
|
G | A | 1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1442-6682C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915895 | ||||||
| chr1:5915908
|
T | C | 2 | a0005c0010t0001g0120a0005c0010t0001g0121 | 2 | HG02056.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1442-6695A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915908 | ||||||
| chr1:5915938
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1442-6725C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915938 | ||||||
| chr1:5915960
|
T | C | 3 | a0001c0003t0001g0199a0001c0003t0001g0200a0010c0022t0005g0207 | 3 | HG03453.hp2 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-6747A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5915960 | ||||||
| chr1:5916108
|
C | T | 1 | a0001c0003t0001g0064 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1442-6895G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916108 | ||||||
| chr1:5916353
|
G | A | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1442-7140C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916353 | ||||||
| chr1:5916410
|
T | C | 10 | a0001c0002t0001g0143a0001c0002t0001g0144a0001c0002t0001g0147others(7): Show | 10 | HG00099.hp2 HG01081.hp2 HG01106.hp2 others(7): Show |
intron_variant | MODIFIER | c.1442-7197A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916410 | ||||||
| chr1:5916458
|
G | A | 1 | a0001c0001t0001g0014 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1442-7245C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916458 | ||||||
| chr1:5916625
|
A | G | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1442-7412T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916625 | ||||||
| chr1:5916707
|
G | C | 1 | a0002c0006t0001g0136 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1442-7494C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916707 | ||||||
| chr1:5916727
|
A | C | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1442-7514T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916727 | ||||||
| chr1:5916783
|
G | A | 3 | a0001c0001t0001g0038a0001c0011t0001g0032a0009c0013t0001g0042 | 3 | HG00609.hp2 HG02602.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1442-7570C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916783 | ||||||
| chr1:5916965
|
G | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1442-7752C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5916965 | ||||||
| chr1:5917064
|
C | G | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-7851G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917064 | ||||||
| chr1:5917067
|
G | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1442-7854C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917067 | ||||||
| chr1:5917094
|
C | T | 4 | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0091others(1): Show | 4 | HG00738.hp1 HG01258.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.1442-7881G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917094 | ||||||
| chr1:5917106
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1442-7893G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917106 | ||||||
| chr1:5917132
|
T | C | 53 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(50): Show | 53 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1442-7919A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917132 | ||||||
| chr1:5917489
|
C | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-8276G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917489 | ||||||
| chr1:5917523
|
T | C | 1 | a0001c0001t0001g0092 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1442-8310A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917523 | ||||||
| chr1:5917690
|
C | G | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1442-8477G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917690 | ||||||
| chr1:5917723
|
C | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1442-8510G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917723 | ||||||
| chr1:5917725
|
G | A | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1442-8512C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917725 | ||||||
| chr1:5917768
|
T | G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1442-8555A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917768 | ||||||
| chr1:5917802
|
T | C | 1 | a0001c0004t0001g0181 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1442-8589A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917802 | ||||||
| chr1:5917820
|
C | T | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.1442-8607G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917820 | ||||||
| chr1:5917922
|
A | G | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.1442-8709T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5917922 | ||||||
| chr1:5918006
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1442-8793C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918006 | ||||||
| chr1:5918047
|
G | A | 3 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065 | 3 | HG02258.hp1 HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1442-8834C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918047 | ||||||
| chr1:5918219
|
G | C | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1442-9006C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918219 | ||||||
| chr1:5918366
|
T | C | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1442-9153A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918366 | ||||||
| chr1:5918450
|
G | A | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 102 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.1441+9199C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918450 | ||||||
| chr1:5918734
|
T | C | 1 | a0001c0002t0001g0125 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1441+8915A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918734 | ||||||
| chr1:5918917
|
G | T | 4 | a0001c0034t0006g0206a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1441+8732C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5918917 | ||||||
| chr1:5919322
|
T | A | 1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1441+8327A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5919322 | ||||||
| chr1:5919518
|
A | G | 1 | a0001c0001t0001g0101 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1441+8131T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5919518 | ||||||
| chr1:5919801
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+7848C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5919801 | ||||||
| chr1:5920124
|
G | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+7525C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920124 | ||||||
| chr1:5920268
|
C | A | 1 | a0001c0001t0001g0017 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1441+7381G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920268 | ||||||
| chr1:5920394
|
G | C | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1441+7255C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920394 | ||||||
| chr1:5920533
|
G | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+7116C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920533 | ||||||
| chr1:5920563
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1441+7086C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920563 | ||||||
| chr1:5920642
|
A | G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+7007T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920642 | ||||||
| chr1:5920704
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1441+6945T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920704 | ||||||
| chr1:5920752
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1441+6897A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920752 | ||||||
| chr1:5920784
|
A | G | 1 | a0007c0026t0004g0205 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1441+6865T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920784 | ||||||
| chr1:5920923
|
T | C | 1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1441+6726A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5920923 | ||||||
| chr1:5921356
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+6293C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921356 | ||||||
| chr1:5921513
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+6136G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921513 | ||||||
| chr1:5921814
|
T | C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1441+5835A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921814 | ||||||
| chr1:5921858
|
T | C | 53 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(50): Show | 53 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1441+5791A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921858 | ||||||
| chr1:5921905
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+5744G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921905 | ||||||
| chr1:5921984
|
G | A | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.1441+5665C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5921984 | ||||||
| chr1:5922113
|
A | G | 53 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(50): Show | 53 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1441+5536T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922113 | ||||||
| chr1:5922297
|
T | C | 1 | a0001c0004t0001g0183 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1441+5352A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922297 | ||||||
| chr1:5922330
|
T | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+5319A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922330 | ||||||
| chr1:5922542
|
G | GT | 10 | a0001c0003t0001g0046a0001c0034t0006g0206a0002c0006t0001g0134others(7): Show | 10 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.1441+5106dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922542 | ||||||
| chr1:5922676
|
AGGCACGG others(29): Show |
A | 3 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204 | 3 | HG02055.hp1 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1441+4937_1441+497 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922676 | ||||||
| chr1:5922692
|
T | C | 40 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(37): Show | 40 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(37): Show |
intron_variant | MODIFIER | c.1441+4957A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922692 | ||||||
| chr1:5922692
|
T | TCTGCAGT others(29): Show |
5 | a0001c0002t0001g0118a0001c0003t0001g0055a0001c0003t0001g0059others(2): Show | 5 | HG03017.hp1 HG03195.hp2 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.1441+4921_1441+495 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922692 | ||||||
| chr1:5922692
|
TCTGCAGT others(29): Show |
T | 11 | a0001c0001t0001g0031a0002c0006t0001g0134a0002c0006t0001g0135others(8): Show | 11 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.1441+4921_1441+495 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922692 | ||||||
| chr1:5922692
|
TCTGCAGT others(65): Show |
T | 1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1441+4885_1441+495 others(76): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922692 | ||||||
| chr1:5922754
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1441+4895C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922754 | ||||||
| chr1:5922795
|
C | T | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1441+4854G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922795 | ||||||
| chr1:5922904
|
G | A | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1441+4745C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922904 | ||||||
| chr1:5922966
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1441+4683G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5922966 | ||||||
| chr1:5923054
|
G | A | 53 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(50): Show | 53 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1441+4595C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923054 | ||||||
| chr1:5923130
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1441+4519C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923130 | ||||||
| chr1:5923402
|
A | C | 53 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(50): Show | 53 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1441+4247T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923402 | ||||||
| chr1:5923491
|
T | C | 1 | a0001c0001t0001g0096 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1441+4158A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923491 | ||||||
| chr1:5923501
|
T | A | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1441+4148A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923501 | ||||||
| chr1:5923548
|
C | G | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1441+4101G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923548 | ||||||
| chr1:5923857
|
T | C | 1 | a0001c0003t0001g0141 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1441+3792A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923857 | ||||||
| chr1:5923907
|
A | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+3742T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5923907 | ||||||
| chr1:5924102
|
T | C | 1 | a0001c0002t0001g0116 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1441+3547A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924102 | ||||||
| chr1:5924275
|
T | A | 2 | a0007c0026t0004g0205a0007c0028t0004g0002 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1441+3374A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924275 | ||||||
| chr1:5924336
|
C | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+3313G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924336 | ||||||
| chr1:5924476
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1441+3173C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924476 | ||||||
| chr1:5924543
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1441+3106G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924543 | ||||||
| chr1:5924661
|
T | C | 1 | a0001c0001t0001g0025 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1441+2988A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924661 | ||||||
| chr1:5924740
|
C | A | 2 | a0010c0022t0005g0207a0015c0030t0001g0138 | 2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1441+2909G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924740 | ||||||
| chr1:5924765
|
T | C | 2 | a0001c0003t0002g0203a0001c0003t0002g0204 | 2 | HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1441+2884A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924765 | ||||||
| chr1:5924867
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+2782C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5924867 | ||||||
| chr1:5925012
|
C | T | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+2637G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925012 | ||||||
| chr1:5925143
|
T | C | 1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1441+2506A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925143 | ||||||
| chr1:5925295
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+2354A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925295 | ||||||
| chr1:5925378
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1441+2271T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925378 | ||||||
| chr1:5925412
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1441+2237G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925412 | ||||||
| chr1:5925442
|
T | C | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+2207A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925442 | ||||||
| chr1:5925447
|
T | G | 1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1441+2202A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925447 | ||||||
| chr1:5925717
|
G | A | 3 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0089 | 3 | HG00140.hp1 HG01358.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1441+1932C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5925717 | ||||||
| chr1:5926094
|
C | CA | 4 | a0001c0001t0001g0076a0001c0001t0001g0083a0001c0001t0001g0084others(1): Show | 4 | HG02056.hp2 HG02132.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.1441+1554dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926094 | ||||||
| chr1:5926120
|
G | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+1529C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926120 | ||||||
| chr1:5926315
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+1334C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926315 | ||||||
| chr1:5926349
|
G | C | 25 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(22): Show | 25 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.1441+1300C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926349 | ||||||
| chr1:5926363
|
T | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+1286A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926363 | ||||||
| chr1:5926368
|
T | C | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1441+1281A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926368 | ||||||
| chr1:5926474
|
T | A | 1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1441+1175A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926474 | ||||||
| chr1:5926523
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+1126G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926523 | ||||||
| chr1:5926837
|
C | T | 1 | a0001c0001t0001g0038 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1441+812G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926837 | ||||||
| chr1:5926939
|
G | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1441+710C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926939 | ||||||
| chr1:5926991
|
C | T | 1 | a0001c0003t0001g0060 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1441+658G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5926991 | ||||||
| chr1:5927196
|
T | C | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(159): Show |
intron_variant | MODIFIER | c.1441+453A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5927196 | ||||||
| chr1:5927256
|
G | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+393C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5927256 | ||||||
| chr1:5927434
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1441+215G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5927434 | ||||||
| chr1:5927535
|
C | T | 2 | a0001c0003t0001g0055a0001c0003t0001g0063 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1441+114G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5927535 | ||||||
| chr1:5927636
|
T | C | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1441+13A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 11/29 | chr1 | 5927636 | ||||||
| chr1:5927918
|
A | G | 4 | a0001c0004t0001g0174a0001c0004t0001g0182a0001c0004t0001g0183others(1): Show | 4 | HG00642.hp1 HG01071.hp2 HG01255.hp2 others(1): Show |
intron_variant | MODIFIER | c.1303-131T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5927918 | ||||||
| chr1:5928181
|
T | TTGCCC | 9 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(6): Show | 9 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1303-399_1303-395d others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928181 | ||||||
| chr1:5928266
|
G | A | 1 | a0001c0001t0001g0078 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1303-479C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928266 | ||||||
| chr1:5928408
|
T | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1303-621A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928408 | ||||||
| chr1:5928475
|
T | C | 1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1303-688A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928475 | ||||||
| chr1:5928503
|
G | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1303-716C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928503 | ||||||
| chr1:5928538
|
G | GC | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1303-752_1303-751i others(3): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928538 | ||||||
| chr1:5928599
|
C | CT | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1303-813dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928599 | ||||||
| chr1:5928622
|
C | T | 1 | a0001c0002t0001g0132 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1303-835G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928622 | ||||||
| chr1:5928672
|
G | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1303-885C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928672 | ||||||
| chr1:5928820
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1303-1033C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928820 | ||||||
| chr1:5928866
|
G | T | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1303-1079C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928866 | ||||||
| chr1:5928997
|
T | C | 1 | a0001c0001t0001g0087 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1303-1210A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5928997 | ||||||
| chr1:5929022
|
C | CAAAA | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.1303-1236_1303-123 others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929022 | ||||||
| chr1:5929054
|
G | A | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1303-1267C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929054 | ||||||
| chr1:5929134
|
T | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1303-1347A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929134 | ||||||
| chr1:5929216
|
T | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1303-1429A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929216 | ||||||
| chr1:5929265
|
C | T | 3 | a0001c0004t0001g0182a0001c0004t0001g0183a0001c0004t0001g0185 | 3 | HG00642.hp1 HG01071.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.1303-1478G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929265 | ||||||
| chr1:5929282
|
C | T | 1 | a0001c0033t0003g0019 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1303-1495G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929282 | ||||||
| chr1:5929339
|
A | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1303-1552T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929339 | ||||||
| chr1:5929430
|
AAG | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0010 | 2 | HG00280.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.1303-1645_1303-164 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929430 | ||||||
| chr1:5929443
|
A | G | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303-1656T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929443 | ||||||
| chr1:5929449
|
A | G | 1 | a0001c0005t0001g0169 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1303-1662T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929449 | ||||||
| chr1:5929660
|
A | G | 1 | a0001c0001t0001g0031 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1303-1873T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929660 | ||||||
| chr1:5929678
|
C | T | 1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1303-1891G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929678 | ||||||
| chr1:5929869
|
A | G | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303-2082T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929869 | ||||||
| chr1:5929895
|
C | T | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303-2108G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929895 | ||||||
| chr1:5929909
|
A | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1303-2122T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929909 | ||||||
| chr1:5929921
|
A | G | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1303-2134T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5929921 | ||||||
| chr1:5930025
|
G | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1303-2238C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930025 | ||||||
| chr1:5930159
|
C | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1303-2372G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930159 | ||||||
| chr1:5930236
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1303-2449G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930236 | ||||||
| chr1:5930242
|
C | T | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1303-2455G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930242 | ||||||
| chr1:5930245
|
G | T | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1303-2458C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930245 | ||||||
| chr1:5930350
|
T | C | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1303-2563A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930350 | ||||||
| chr1:5930535
|
C | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1302+2612G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930535 | ||||||
| chr1:5930657
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1302+2490G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930657 | ||||||
| chr1:5930732
|
C | T | 1 | a0001c0001t0001g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1302+2415G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930732 | ||||||
| chr1:5930905
|
C | A | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1302+2242G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5930905 | ||||||
| chr1:5931141
|
C | T | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 102 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.1302+2006G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931141 | ||||||
| chr1:5931142
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+2005C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931142 | ||||||
| chr1:5931363
|
A | G | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1302+1784T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931363 | ||||||
| chr1:5931401
|
T | TA | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+1745dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931401 | ||||||
| chr1:5931401
|
TA | T | 69 | a0001c0001t0001g0029a0001c0002t0001g0159a0001c0002t0001g0160others(66): Show | 70 | HG00140.hp2 HG00544.hp1 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.1302+1745delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931401 | ||||||
| chr1:5931417
|
A | C | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1302+1730T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931417 | ||||||
| chr1:5931596
|
T | C | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.1302+1551A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931596 | ||||||
| chr1:5931635
|
G | C | 2 | a0001c0001t0001g0084a0001c0001t0001g0097 | 2 | NA19011.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.1302+1512C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931635 | ||||||
| chr1:5931651
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1302+1496C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931651 | ||||||
| chr1:5931733
|
C | CA | 5 | a0001c0002t0001g0110a0001c0002t0001g0117a0001c0002t0001g0127others(2): Show | 5 | HG00099.hp1 HG00558.hp2 HG01192.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+1413dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931733 | ||||||
| chr1:5931733
|
CA | C | 14 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0028others(11): Show | 14 | HG00544.hp2 HG01346.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1302+1413delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931733 | ||||||
| chr1:5931733
|
CAA | C | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(116): Show |
intron_variant | MODIFIER | c.1302+1412_1302+141 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931733 | ||||||
| chr1:5931733
|
CAAA | C | 17 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.1302+1411_1302+141 others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931733 | ||||||
| chr1:5931752
|
A | C | 55 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(52): Show | 55 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1302+1395T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5931752 | ||||||
| chr1:5932046
|
C | A | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1302+1101G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932046 | ||||||
| chr1:5932064
|
C | A | 1 | a0001c0001t0001g0011 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1302+1083G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932064 | ||||||
| chr1:5932072
|
C | CA | 4 | a0001c0003t0001g0052a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02622.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+1074dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932072 | ||||||
| chr1:5932621
|
C | T | 12 | a0001c0003t0001g0199a0001c0003t0001g0200a0002c0006t0001g0134others(9): Show | 12 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.1302+526G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932621 | ||||||
| chr1:5932629
|
T | C | 3 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204 | 3 | HG02055.hp1 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1302+518A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932629 | ||||||
| chr1:5932658
|
AT | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1302+488delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932658 | ||||||
| chr1:5932660
|
T | TA | 44 | a0001c0001t0001g0095a0001c0002t0001g0125a0001c0002t0001g0159others(41): Show | 44 | HG00544.hp1 HG00597.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1302+486dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932660 | ||||||
| chr1:5932760
|
A | C | 1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1302+387T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932760 | ||||||
| chr1:5932771
|
C | T | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01928.hp2 HG01981.hp1 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.1302+376G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932771 | ||||||
| chr1:5932796
|
T | A | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.1302+351A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932796 | ||||||
| chr1:5932797
|
C | A | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.1302+350G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932797 | ||||||
| chr1:5932798
|
A | C | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.1302+349T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932798 | ||||||
| chr1:5932816
|
TG | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+330delC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932816 | ||||||
| chr1:5932820
|
A | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1302+327T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5932820 | ||||||
| chr1:5933076
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1302+71A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 10/29 | chr1 | 5933076 | ||||||
| chr1:5933421
|
A | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-92T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5933421 | ||||||
| chr1:5933763
|
T | G | 1 | a0006c0012t0001g0023 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1120-434A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5933763 | ||||||
| chr1:5933764
|
T | C | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1120-435A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5933764 | ||||||
| chr1:5933770
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1120-441T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5933770 | ||||||
| chr1:5933799
|
C | T | 54 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(51): Show | 54 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.1120-470G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5933799 | ||||||
| chr1:5934057
|
A | T | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1120-728T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934057 | ||||||
| chr1:5934150
|
A | T | 3 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204 | 3 | HG02055.hp1 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1120-821T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934150 | ||||||
| chr1:5934182
|
G | T | 1 | a0003c0007t0003g0104 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1120-853C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934182 | ||||||
| chr1:5934210
|
C | G | 1 | a0001c0002t0001g0106 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1120-881G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934210 | ||||||
| chr1:5934217
|
G | A | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1120-888C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934217 | ||||||
| chr1:5934274
|
C | T | 4 | a0001c0004t0001g0044a0001c0004t0001g0178a0001c0004t0001g0181others(1): Show | 4 | HG00639.hp1 HG01074.hp2 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.1120-945G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934274 | ||||||
| chr1:5934277
|
C | A | 1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1120-948G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934277 | ||||||
| chr1:5934533
|
C | T | 21 | a0001c0004t0001g0044a0001c0004t0001g0158a0001c0004t0001g0174others(18): Show | 21 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(18): Show |
intron_variant | MODIFIER | c.1120-1204G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934533 | ||||||
| chr1:5934597
|
G | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-1268C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934597 | ||||||
| chr1:5934701
|
C | T | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1120-1372G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934701 | ||||||
| chr1:5934798
|
C | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-1469G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934798 | ||||||
| chr1:5934845
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1120-1516G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934845 | ||||||
| chr1:5934866
|
G | C | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.1120-1537C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934866 | ||||||
| chr1:5934896
|
G | A | 1 | a0001c0003t0001g0021 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1120-1567C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934896 | ||||||
| chr1:5934951
|
C | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1120-1622G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934951 | ||||||
| chr1:5934994
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1120-1665G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5934994 | ||||||
| chr1:5935029
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1120-1700C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935029 | ||||||
| chr1:5935050
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1120-1721G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935050 | ||||||
| chr1:5935465
|
T | C | 2 | a0001c0001t0001g0074a0001c0001t0001g0082 | 2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1120-2136A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935465 | ||||||
| chr1:5935491
|
C | T | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1120-2162G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935491 | ||||||
| chr1:5935492
|
A | G | 193 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(190): Show | 194 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(191): Show |
intron_variant | MODIFIER | c.1120-2163T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935492 | ||||||
| chr1:5935629
|
C | CT | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1120-2301dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935629 | ||||||
| chr1:5935752
|
G | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-2423C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935752 | ||||||
| chr1:5935785
|
G | A | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01928.hp2 HG01981.hp1 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.1120-2456C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5935785 | ||||||
| chr1:5936174
|
C | T | 1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1120-2845G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936174 | ||||||
| chr1:5936200
|
A | G | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1120-2871T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936200 | ||||||
| chr1:5936247
|
T | C | 1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1120-2918A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936247 | ||||||
| chr1:5936296
|
C | A | 1 | a0001c0002t0001g0147 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1120-2967G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936296 | ||||||
| chr1:5936296
|
C | T | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.1120-2967G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936296 | ||||||
| chr1:5936384
|
G | A | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1120-3055C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936384 | ||||||
| chr1:5936774
|
C | T | 4 | a0001c0034t0006g0206a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1120-3445G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936774 | ||||||
| chr1:5936777
|
G | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1120-3448C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936777 | ||||||
| chr1:5936878
|
G | C | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1120-3549C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936878 | ||||||
| chr1:5936909
|
T | C | 42 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(39): Show | 42 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.1120-3580A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936909 | ||||||
| chr1:5936954
|
G | C | 2 | a0001c0001t0001g0074a0001c0001t0001g0082 | 2 | HG03688.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1120-3625C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5936954 | ||||||
| chr1:5937002
|
C | T | 42 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(39): Show | 42 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.1120-3673G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937002 | ||||||
| chr1:5937012
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-3683C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937012 | ||||||
| chr1:5937035
|
G | A | 54 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(51): Show | 54 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.1120-3706C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937035 | ||||||
| chr1:5937240
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1120-3911C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937240 | ||||||
| chr1:5937261
|
C | A | 1 | a0001c0002t0001g0043 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1120-3932G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937261 | ||||||
| chr1:5937493
|
T | G | 3 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204 | 3 | HG02055.hp1 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1120-4164A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937493 | ||||||
| chr1:5937588
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-4259C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937588 | ||||||
| chr1:5937622
|
C | T | 14 | a0001c0003t0001g0021a0001c0003t0001g0053a0001c0003t0001g0055others(11): Show | 14 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1120-4293G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937622 | ||||||
| chr1:5937714
|
C | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1120-4385G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937714 | ||||||
| chr1:5937732
|
G | C | 1 | a0001c0002t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1120-4403C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937732 | ||||||
| chr1:5937880
|
G | A | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1120-4551C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5937880 | ||||||
| chr1:5938034
|
C | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0089 | 2 | HG00140.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1120-4705G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938034 | ||||||
| chr1:5938043
|
C | T | 10 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(7): Show | 10 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1120-4714G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938043 | ||||||
| chr1:5938153
|
G | A | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.1120-4824C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938153 | ||||||
| chr1:5938156
|
G | A | 1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1120-4827C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938156 | ||||||
| chr1:5938246
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1120-4917G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938246 | ||||||
| chr1:5938404
|
A | G | 134 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(131): Show | 134 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(131): Show |
intron_variant | MODIFIER | c.1120-5075T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938404 | ||||||
| chr1:5938567
|
T | C | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1120-5238A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938567 | ||||||
| chr1:5938688
|
G | A | 1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1120-5359C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938688 | ||||||
| chr1:5938707
|
T | C | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1120-5378A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938707 | ||||||
| chr1:5938814
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1120-5485C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938814 | ||||||
| chr1:5938960
|
T | C | 80 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 80 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1120-5631A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5938960 | ||||||
| chr1:5939000
|
G | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1120-5671C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939000 | ||||||
| chr1:5939108
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1120-5779A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939108 | ||||||
| chr1:5939119
|
A | G | 1 | a0001c0001t0001g0011 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1120-5790T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939119 | ||||||
| chr1:5939358
|
C | T | 1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1120-6029G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939358 | ||||||
| chr1:5939450
|
T | A | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.1120-6121A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939450 | ||||||
| chr1:5939494
|
G | A | 5 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(2): Show | 5 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1120-6165C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939494 | ||||||
| chr1:5939545
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1120-6216C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939545 | ||||||
| chr1:5939570
|
C | T | 1 | a0001c0003t0001g0139 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1120-6241G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939570 | ||||||
| chr1:5939657
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-6328G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939657 | ||||||
| chr1:5939683
|
A | G | 1 | a0001c0001t0001g0034 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1120-6354T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939683 | ||||||
| chr1:5939822
|
A | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1120-6493T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939822 | ||||||
| chr1:5939960
|
G | A | 3 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065 | 3 | HG02258.hp1 HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.1120-6631C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5939960 | ||||||
| chr1:5940069
|
T | C | 16 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(13): Show | 16 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1120-6740A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940069 | ||||||
| chr1:5940170
|
A | G | 46 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(43): Show | 46 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.1120-6841T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940170 | ||||||
| chr1:5940194
|
A | G | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1120-6865T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940194 | ||||||
| chr1:5940218
|
T | C | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1119+6886A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940218 | ||||||
| chr1:5940301
|
C | T | 1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1119+6803G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940301 | ||||||
| chr1:5940326
|
CCTCACAA others(25): Show |
C | 1 | a0001c0002t0001g0155 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1119+6746_1119+677 others(36): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940326 | ||||||
| chr1:5940563
|
C | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1119+6541G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940563 | ||||||
| chr1:5940791
|
A | G | 1 | a0001c0001t0001g0011 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1119+6313T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940791 | ||||||
| chr1:5940868
|
C | A | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1119+6236G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940868 | ||||||
| chr1:5940894
|
TG | T | 2 | a0001c0005t0001g0164a0001c0005t0001g0165 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1119+6209delC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5940894 | ||||||
| chr1:5941005
|
G | C | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 102 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.1119+6099C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941005 | ||||||
| chr1:5941056
|
A | G | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1119+6048T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941056 | ||||||
| chr1:5941220
|
G | A | 2 | a0001c0005t0001g0169a0001c0005t0001g0171 | 2 | HG02895.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1119+5884C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941220 | ||||||
| chr1:5941229
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+5875A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941229 | ||||||
| chr1:5941267
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+5837G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941267 | ||||||
| chr1:5941289
|
C | CA | 22 | a0001c0001t0001g0024a0001c0001t0001g0028a0001c0001t0001g0031others(19): Show | 22 | HG00544.hp2 HG00597.hp1 HG00738.hp1 others(19): Show |
intron_variant | MODIFIER | c.1119+5814dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941289 | ||||||
| chr1:5941289
|
C | CAA | 8 | a0001c0033t0003g0019a0002c0006t0002g0195a0002c0006t0002g0197others(5): Show | 9 | HG01884.hp2 HG02630.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1119+5813_1119+581 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941289 | ||||||
| chr1:5941289
|
CA | C | 72 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(69): Show | 72 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(69): Show |
intron_variant | MODIFIER | c.1119+5814delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941289 | ||||||
| chr1:5941378
|
G | C | 1 | a0001c0002t0001g0147 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1119+5726C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941378 | ||||||
| chr1:5941596
|
A | ACT | 54 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(51): Show | 54 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.1119+5506_1119+550 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941596 | ||||||
| chr1:5941888
|
C | T | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1119+5216G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5941888 | ||||||
| chr1:5942013
|
T | C | 82 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(79): Show | 83 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.1119+5091A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942013 | ||||||
| chr1:5942248
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+4856A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942248 | ||||||
| chr1:5942271
|
C | A | 1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1119+4833G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942271 | ||||||
| chr1:5942362
|
T | C | 2 | a0007c0026t0004g0205a0007c0028t0004g0002 | 2 | HG02280.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1119+4742A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942362 | ||||||
| chr1:5942428
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1119+4676C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942428 | ||||||
| chr1:5942479
|
C | G | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1119+4625G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942479 | ||||||
| chr1:5942486
|
G | A | 42 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(39): Show | 42 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.1119+4618C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942486 | ||||||
| chr1:5942510
|
A | G | 176 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | 177 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(174): Show |
intron_variant | MODIFIER | c.1119+4594T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942510 | ||||||
| chr1:5942530
|
C | CA | 29 | a0001c0001t0001g0026a0001c0001t0001g0041a0001c0001t0001g0049others(26): Show | 29 | HG00544.hp1 HG00735.hp2 HG00741.hp1 others(26): Show |
intron_variant | MODIFIER | c.1119+4573dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942530 | ||||||
| chr1:5942530
|
C | CAA | 23 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0051others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.1119+4572_1119+457 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942530 | ||||||
| chr1:5942530
|
CA | C | 16 | a0001c0001t0001g0085a0001c0002t0001g0159a0001c0002t0001g0160others(13): Show | 17 | HG00741.hp2 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.1119+4573delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942530 | ||||||
| chr1:5942583
|
A | T | 21 | a0001c0004t0001g0044a0001c0004t0001g0158a0001c0004t0001g0174others(18): Show | 21 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(18): Show |
intron_variant | MODIFIER | c.1119+4521T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942583 | ||||||
| chr1:5942587
|
C | CA | 75 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(72): Show | 75 | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(72): Show |
intron_variant | MODIFIER | c.1119+4516dupT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942587 | ||||||
| chr1:5942587
|
C | CAA | 5 | a0001c0001t0001g0028a0001c0001t0001g0038a0001c0001t0001g0074others(2): Show | 5 | HG00544.hp2 HG00741.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.1119+4515_1119+451 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942587 | ||||||
| chr1:5942587
|
CA | C | 41 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(38): Show | 41 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.1119+4516delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942587 | ||||||
| chr1:5942587
|
CAAAAAAA others(2): Show |
C | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1119+4508_1119+451 others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942587 | ||||||
| chr1:5942683
|
G | A | 1 | a0001c0003t0001g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1119+4421C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942683 | ||||||
| chr1:5942743
|
G | A | 114 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(111): Show | 115 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(112): Show |
intron_variant | MODIFIER | c.1119+4361C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942743 | ||||||
| chr1:5942791
|
A | C | 1 | a0001c0003t0001g0052 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1119+4313T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942791 | ||||||
| chr1:5942895
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1119+4209C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942895 | ||||||
| chr1:5942912
|
A | G | 2 | a0005c0010t0001g0120a0005c0010t0001g0121 | 2 | HG02056.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1119+4192T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5942912 | ||||||
| chr1:5943031
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1119+4073G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5943031 | ||||||
| chr1:5943380
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1119+3724T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5943380 | ||||||
| chr1:5943713
|
G | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1119+3391C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5943713 | ||||||
| chr1:5943728
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1119+3376T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5943728 | ||||||
| chr1:5943756
|
G | A | 1 | a0001c0002t0001g0130 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1119+3348C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5943756 | ||||||
| chr1:5944139
|
T | C | 1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1119+2965A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944139 | ||||||
| chr1:5944260
|
A | G | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.1119+2844T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944260 | ||||||
| chr1:5944351
|
T | C | 5 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0015others(2): Show | 5 | HG02109.hp2 HG02615.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1119+2753A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944351 | ||||||
| chr1:5944376
|
G | A | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1119+2728C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944376 | ||||||
| chr1:5944539
|
C | T | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1119+2565G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944539 | ||||||
| chr1:5944671
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+2433C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944671 | ||||||
| chr1:5944697
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+2407G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944697 | ||||||
| chr1:5944698
|
G | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1119+2406C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944698 | ||||||
| chr1:5944798
|
C | T | 1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1119+2306G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944798 | ||||||
| chr1:5944841
|
G | C | 1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1119+2263C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944841 | ||||||
| chr1:5944874
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1119+2230C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944874 | ||||||
| chr1:5944879
|
A | G | 1 | a0001c0002t0001g0155 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1119+2225T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5944879 | ||||||
| chr1:5945013
|
A | C | 1 | a0001c0002t0001g0155 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1119+2091T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945013 | ||||||
| chr1:5945044
|
A | T | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1119+2060T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945044 | ||||||
| chr1:5945122
|
C | T | 1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1119+1982G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945122 | ||||||
| chr1:5945283
|
G | A | 4 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(1): Show | 4 | HG03130.hp1 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1119+1821C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945283 | ||||||
| chr1:5945430
|
T | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+1674A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945430 | ||||||
| chr1:5945520
|
G | C | 1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1119+1584C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945520 | ||||||
| chr1:5945741
|
T | C | 1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1119+1363A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945741 | ||||||
| chr1:5945903
|
T | TC | 30 | a0001c0001t0001g0084a0001c0002t0001g0155a0001c0002t0001g0159others(27): Show | 30 | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(27): Show |
intron_variant | MODIFIER | c.1119+1200dupG | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945903 | ||||||
| chr1:5945903
|
T | TG | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.1119+1200_1119+120 others(5): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945903 | ||||||
| chr1:5945909
|
C | A | 5 | a0001c0005t0001g0163a0001c0005t0001g0164a0001c0005t0001g0165others(2): Show | 5 | HG02280.hp1 HG02976.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.1119+1195G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945909 | ||||||
| chr1:5945909
|
C | G | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1119+1195G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945909 | ||||||
| chr1:5945910
|
C | G | 1 | a0005c0010t0001g0120 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1119+1194G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945910 | ||||||
| chr1:5945931
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1119+1173G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945931 | ||||||
| chr1:5945932
|
G | A | 4 | a0001c0004t0001g0174a0001c0004t0001g0182a0001c0004t0001g0183others(1): Show | 4 | HG00642.hp1 HG01071.hp2 HG01255.hp2 others(1): Show |
intron_variant | MODIFIER | c.1119+1172C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5945932 | ||||||
| chr1:5946022
|
T | C | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG00738.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1119+1082A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946022 | ||||||
| chr1:5946064
|
C | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0089 | 2 | HG00140.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1119+1040G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946064 | ||||||
| chr1:5946084
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.1119+1020C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946084 | ||||||
| chr1:5946118
|
G | T | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1119+986C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946118 | ||||||
| chr1:5946274
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1119+830A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946274 | ||||||
| chr1:5946489
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1119+615C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946489 | ||||||
| chr1:5946512
|
C | T | 4 | a0001c0034t0006g0206a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1119+592G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946512 | ||||||
| chr1:5946579
|
G | A | 22 | a0001c0004t0001g0044a0001c0004t0001g0058a0001c0004t0001g0158others(19): Show | 22 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1119+525C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5946579 | ||||||
| chr1:5947083
|
G | A | 1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1119+21C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 9/29 | chr1 | 5947083 | ||||||
| chr1:5947381
|
G | A | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.993-151C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947381 | ||||||
| chr1:5947386
|
C | T | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
intron_variant | MODIFIER | c.993-156G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947386 | ||||||
| chr1:5947414
|
G | A | 149 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(146): Show | 150 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.993-184C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947414 | ||||||
| chr1:5947416
|
T | G | 1 | a0007c0026t0004g0205 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.993-186A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947416 | ||||||
| chr1:5947756
|
A | G | 102 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(99): Show | 102 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.992+314T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947756 | ||||||
| chr1:5947829
|
G | T | 1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.992+241C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947829 | ||||||
| chr1:5947874
|
GA | G | 13 | a0001c0003t0001g0199a0001c0003t0001g0200a0001c0004t0001g0177others(10): Show | 13 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.992+195delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947874 | ||||||
| chr1:5947945
|
G | A | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.992+125C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947945 | ||||||
| chr1:5947975
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.992+95C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5947975 | ||||||
| chr1:5948001
|
C | A | 1 | a0001c0001t0001g0038 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.992+69G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 8/29 | chr1 | 5948001 | ||||||
| chr1:5948330
|
C | T | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.811-79G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948330 | ||||||
| chr1:5948531
|
C | T | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.811-280G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948531 | ||||||
| chr1:5948583
|
G | A | 1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.811-332C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948583 | ||||||
| chr1:5948614
|
C | T | 1 | a0001c0003t0001g0064 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.811-363G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948614 | ||||||
| chr1:5948626
|
T | C | 27 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0003t0002g0157others(24): Show | 27 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.811-375A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948626 | ||||||
| chr1:5948699
|
C | T | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.811-448G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948699 | ||||||
| chr1:5948741
|
T | C | 1 | a0001c0001t0001g0028 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.811-490A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948741 | ||||||
| chr1:5948765
|
T | C | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.811-514A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948765 | ||||||
| chr1:5948825
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.811-574C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5948825 | ||||||
| chr1:5949198
|
A | G | 13 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.811-947T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949198 | ||||||
| chr1:5949236
|
G | C | 62 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(59): Show | 62 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(59): Show |
intron_variant | MODIFIER | c.811-985C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949236 | ||||||
| chr1:5949343
|
T | TAC | 5 | a0001c0002t0001g0107a0001c0002t0001g0111a0001c0002t0001g0113others(2): Show | 5 | HG00735.hp1 HG01192.hp2 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.811-1094_811-1093d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(3): Show |
11 | a0001c0003t0002g0157a0001c0003t0002g0204a0001c0004t0001g0177others(8): Show | 11 | HG02055.hp1 HG02280.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.811-1102_811-1093d others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(5): Show |
27 | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0029others(24): Show | 27 | HG02129.hp1 HG02145.hp1 HG02145.hp2 others(24): Show |
intron_variant | MODIFIER | c.811-1104_811-1093d others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(7): Show |
63 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(60): Show | 63 | HG00140.hp1 HG00558.hp1 HG00597.hp1 others(60): Show |
intron_variant | MODIFIER | c.811-1106_811-1093d others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(9): Show |
13 | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0028others(10): Show | 14 | HG00544.hp2 HG00642.hp2 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.811-1108_811-1093d others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(11): Show |
14 | a0001c0001t0001g0010a0001c0003t0001g0021a0001c0003t0001g0052others(11): Show | 14 | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(11): Show |
intron_variant | MODIFIER | c.811-1110_811-1093d others(20): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(13): Show |
2 | a0001c0003t0001g0066a0012c0019t0001g0176 | 2 | HG01123.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.811-1112_811-1093d others(22): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(15): Show |
5 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0003t0001g0054others(2): Show | 5 | HG02004.hp1 HG02109.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-1114_811-1093d others(24): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(17): Show |
10 | a0001c0003t0001g0193a0001c0003t0001g0199a0001c0003t0001g0200others(7): Show | 10 | HG01071.hp2 HG01074.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.811-1116_811-1093d others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(19): Show |
10 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0004t0001g0174others(7): Show | 10 | HG00544.hp1 HG00642.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.811-1118_811-1093d others(28): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(21): Show |
3 | a0001c0001t0001g0005a0001c0002t0001g0175a0001c0004t0001g0044 | 3 | HG00099.hp1 HG00639.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.811-1093_811-1092i others(30): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949343
|
T | TACACACA others(23): Show |
3 | a0001c0004t0001g0178a0001c0004t0001g0189a0004c0009t0001g0186 | 3 | HG00741.hp1 HG04115.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.811-1093_811-1092i others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949343 | ||||||
| chr1:5949369
|
C | CACACACA others(4): Show |
1 | a0001c0015t0001g0012 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.811-1119_811-1118i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949369 | ||||||
| chr1:5949612
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.811-1361C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949612 | ||||||
| chr1:5949653
|
A | G | 181 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(178): Show | 182 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(179): Show |
intron_variant | MODIFIER | c.811-1402T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949653 | ||||||
| chr1:5949733
|
C | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.811-1482G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949733 | ||||||
| chr1:5949798
|
G | A | 73 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(70): Show | 73 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.811-1547C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949798 | ||||||
| chr1:5949882
|
T | C | 1 | a0001c0003t0001g0056 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.811-1631A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949882 | ||||||
| chr1:5949937
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.811-1686C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5949937 | ||||||
| chr1:5950026
|
G | C | 1 | a0001c0004t0001g0180 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.811-1775C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5950026 | ||||||
| chr1:5950212
|
A | G | 1 | a0001c0003t0001g0021 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.811-1961T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5950212 | ||||||
| chr1:5951069
|
C | T | 160 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(157): Show | 161 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
intron_variant | MODIFIER | c.810+1631G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951069 | ||||||
| chr1:5951082
|
C | G | 3 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065 | 3 | HG02258.hp1 HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.810+1618G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951082 | ||||||
| chr1:5951123
|
A | G | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.810+1577T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951123 | ||||||
| chr1:5951151
|
G | C | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.810+1549C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951151 | ||||||
| chr1:5951180
|
G | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.810+1520C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951180 | ||||||
| chr1:5951233
|
G | A | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.810+1467C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951233 | ||||||
| chr1:5951294
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.810+1406G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951294 | ||||||
| chr1:5951390
|
T | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.810+1310A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951390 | ||||||
| chr1:5951465
|
G | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.810+1235C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951465 | ||||||
| chr1:5951468
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.810+1232C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951468 | ||||||
| chr1:5951511
|
T | C | 1 | a0001c0025t0001g0079 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.810+1189A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951511 | ||||||
| chr1:5951541
|
A | G | 61 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(58): Show | 61 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.810+1159T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951541 | ||||||
| chr1:5951683
|
A | G | 7 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(4): Show | 7 | HG03041.hp2 HG03130.hp1 HG03471.hp2 others(4): Show |
intron_variant | MODIFIER | c.810+1017T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951683 | ||||||
| chr1:5951697
|
T | C | 163 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(160): Show | 164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.810+1003A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951697 | ||||||
| chr1:5951717
|
G | A | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.810+983C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951717 | ||||||
| chr1:5951773
|
G | A | 2 | a0006c0012t0001g0023a0006c0012t0001g0069 | 2 | HG03239.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.810+927C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951773 | ||||||
| chr1:5951775
|
A | G | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.810+925T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951775 | ||||||
| chr1:5951992
|
G | A | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.810+708C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5951992 | ||||||
| chr1:5952129
|
G | A | 1 | a0004c0009t0001g0192 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.810+571C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952129 | ||||||
| chr1:5952130
|
A | G | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.810+570T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952130 | ||||||
| chr1:5952192
|
G | A | 1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.810+508C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952192 | ||||||
| chr1:5952543
|
A | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.810+157T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952543 | ||||||
| chr1:5952546
|
C | A | 1 | a0001c0001t0001g0096 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.810+154G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952546 | ||||||
| chr1:5952554
|
CCCCTGCC others(13): Show |
C | 33 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(30): Show | 33 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(30): Show |
intron_variant | MODIFIER | c.810+126_810+145del others(20): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952554 | ||||||
| chr1:5952554
|
CCCCTGCC others(33): Show |
C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.810+106_810+145del others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952554 | ||||||
| chr1:5952689
|
T | A | 1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.810+11A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 7/29 | chr1 | 5952689 | ||||||
| chr1:5952920
|
C | T | 4 | a0002c0006t0002g0195a0002c0006t0002g0197a0002c0006t0002g0198others(1): Show | 4 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.674-84G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5952920 | ||||||
| chr1:5953069
|
G | A | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.674-233C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953069 | ||||||
| chr1:5953069
|
GTTGTT | G | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.674-238_674-234del others(5): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953069 | ||||||
| chr1:5953101
|
CTTGT | C | 34 | a0001c0001t0001g0026a0001c0001t0001g0070a0001c0001t0001g0072others(31): Show | 34 | HG00558.hp1 HG00597.hp1 HG00642.hp2 others(31): Show |
intron_variant | MODIFIER | c.674-269_674-266del others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953101 | ||||||
| chr1:5953180
|
C | G | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.674-344G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953180 | ||||||
| chr1:5953233
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.674-397C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953233 | ||||||
| chr1:5953240
|
C | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.674-404G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953240 | ||||||
| chr1:5953295
|
G | A | 1 | a0001c0002t0001g0110 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.674-459C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953295 | ||||||
| chr1:5953311
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.674-475C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953311 | ||||||
| chr1:5953315
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.674-479C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953315 | ||||||
| chr1:5953553
|
T | C | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.674-717A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953553 | ||||||
| chr1:5953659
|
G | A | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.674-823C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953659 | ||||||
| chr1:5953753
|
G | A | 1 | a0001c0004t0001g0058 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.674-917C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953753 | ||||||
| chr1:5953762
|
C | A | 1 | a0001c0002t0001g0125 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.674-926G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953762 | ||||||
| chr1:5953953
|
T | G | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.674-1117A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5953953 | ||||||
| chr1:5954179
|
T | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.674-1343A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954179 | ||||||
| chr1:5954230
|
A | G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.674-1394T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954230 | ||||||
| chr1:5954384
|
T | C | 62 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(59): Show | 62 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(59): Show |
intron_variant | MODIFIER | c.674-1548A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954384 | ||||||
| chr1:5954570
|
G | A | 45 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(42): Show | 45 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.674-1734C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954570 | ||||||
| chr1:5954655
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.674-1819C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954655 | ||||||
| chr1:5954798
|
T | A | 61 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(58): Show | 61 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.674-1962A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5954798 | ||||||
| chr1:5955556
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.674-2720C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955556 | ||||||
| chr1:5955682
|
T | C | 45 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(42): Show | 45 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.674-2846A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955682 | ||||||
| chr1:5955715
|
A | G | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.674-2879T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955715 | ||||||
| chr1:5955752
|
G | A | 2 | a0001c0002t0001g0123a0001c0002t0001g0130 | 2 | HG00408.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.674-2916C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955752 | ||||||
| chr1:5955823
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.674-2987C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955823 | ||||||
| chr1:5955881
|
C | T | 1 | a0001c0002t0001g0130 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.674-3045G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955881 | ||||||
| chr1:5955882
|
G | A | 45 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(42): Show | 45 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.674-3046C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955882 | ||||||
| chr1:5955889
|
G | C | 46 | a0001c0001t0001g0013a0001c0002t0001g0159a0001c0002t0001g0160others(43): Show | 46 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.674-3053C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5955889 | ||||||
| chr1:5956042
|
A | G | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.674-3206T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956042 | ||||||
| chr1:5956046
|
T | C | 74 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(71): Show | 74 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(71): Show |
intron_variant | MODIFIER | c.674-3210A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956046 | ||||||
| chr1:5956051
|
C | T | 1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.674-3215G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956051 | ||||||
| chr1:5956059
|
T | TG | 22 | a0001c0002t0001g0043a0001c0002t0001g0090a0001c0002t0001g0106others(19): Show | 22 | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(19): Show |
intron_variant | MODIFIER | c.674-3224dupC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956059 | ||||||
| chr1:5956059
|
T | TGG | 17 | a0001c0002t0001g0108a0001c0002t0001g0109a0001c0002t0001g0110others(14): Show | 17 | HG01071.hp1 HG01074.hp1 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.674-3225_674-3224d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956059 | ||||||
| chr1:5956059
|
TG | T | 84 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(81): Show | 84 | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(81): Show |
intron_variant | MODIFIER | c.674-3224delC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956059 | ||||||
| chr1:5956061
|
G | T | 2 | a0004c0009t0001g0192a0004c0016t0001g0184 | 2 | HG02602.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.674-3225C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956061 | ||||||
| chr1:5956063
|
G | GT | 7 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(4): Show | 7 | HG03041.hp2 HG03130.hp1 HG03471.hp2 others(4): Show |
intron_variant | MODIFIER | c.674-3228_674-3227i others(3): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956063 | ||||||
| chr1:5956067
|
G | GT | 4 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(1): Show | 4 | HG00738.hp2 HG02895.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.674-3232_674-3231i others(3): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956067 | ||||||
| chr1:5956070
|
G | T | 3 | a0001c0002t0001g0160a0001c0002t0001g0161a0007c0028t0004g0002 | 3 | HG02145.hp2 HG02559.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.674-3234C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956070 | ||||||
| chr1:5956309
|
C | T | 1 | a0011c0020t0001g0168 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.674-3473G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956309 | ||||||
| chr1:5956498
|
G | C | 28 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0003t0002g0157others(25): Show | 28 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.674-3662C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956498 | ||||||
| chr1:5956575
|
C | G | 24 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(21): Show | 24 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.674-3739G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956575 | ||||||
| chr1:5956601
|
A | G | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.674-3765T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956601 | ||||||
| chr1:5956656
|
G | A | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.674-3820C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956656 | ||||||
| chr1:5956660
|
C | G | 1 | a0001c0001t0001g0034 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.674-3824G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956660 | ||||||
| chr1:5956736
|
G | C | 45 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(42): Show | 45 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.674-3900C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956736 | ||||||
| chr1:5956789
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.674-3953C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956789 | ||||||
| chr1:5956911
|
G | A | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.674-4075C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5956911 | ||||||
| chr1:5957270
|
C | G | 1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.674-4434G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957270 | ||||||
| chr1:5957487
|
A | AAATGCAC others(45): Show |
1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.673+4306_673+4307i others(54): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957487 | ||||||
| chr1:5957487
|
A | AAATGCAC others(45): Show |
2 | a0001c0001t0001g0031a0017c0035t0001g0105 | 2 | HG02083.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.673+4255_673+4306d others(54): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957487 | ||||||
| chr1:5957510
|
G | A | 16 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(13): Show | 16 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(13): Show |
intron_variant | MODIFIER | c.673+4284C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957510 | ||||||
| chr1:5957624
|
T | C | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.673+4170A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957624 | ||||||
| chr1:5957640
|
G | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.673+4154C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957640 | ||||||
| chr1:5957664
|
C | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.673+4130G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957664 | ||||||
| chr1:5957665
|
T | C | 164 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 165 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
intron_variant | MODIFIER | c.673+4129A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957665 | ||||||
| chr1:5957680
|
A | G | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.673+4114T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957680 | ||||||
| chr1:5957716
|
C | A | 1 | a0001c0002t0001g0114 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.673+4078G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957716 | ||||||
| chr1:5957732
|
A | G | 2 | a0001c0001t0001g0084a0001c0001t0001g0097 | 2 | NA19011.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.673+4062T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957732 | ||||||
| chr1:5957882
|
CTG | C | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+3910_673+3911d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957882 | ||||||
| chr1:5957932
|
C | T | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.673+3862G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957932 | ||||||
| chr1:5957985
|
G | C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.673+3809C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5957985 | ||||||
| chr1:5958059
|
G | A | 2 | a0001c0003t0001g0102a0001c0003t0001g0140 | 2 | NA18522.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.673+3735C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958059 | ||||||
| chr1:5958164
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+3630C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958164 | ||||||
| chr1:5958361
|
T | C | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+3433A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958361 | ||||||
| chr1:5958540
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+3254G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958540 | ||||||
| chr1:5958692
|
CA | C | 44 | a0001c0001t0001g0028a0001c0002t0001g0159a0001c0002t0001g0160others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.673+3101delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958692 | ||||||
| chr1:5958856
|
C | CAAAAA | 6 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(3): Show | 6 | HG02896.hp1 HG03041.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.673+2933_673+2937d others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958856 | ||||||
| chr1:5958856
|
C | CAAAAAA | 16 | a0001c0001t0001g0081a0001c0001t0001g0100a0001c0003t0001g0063others(13): Show | 16 | HG00558.hp1 HG01255.hp2 HG02615.hp1 others(13): Show |
intron_variant | MODIFIER | c.673+2932_673+2937d others(8): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958856 | ||||||
| chr1:5958856
|
C | CAAAAAAA | 114 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(111): Show | 115 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.673+2931_673+2937d others(9): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958856 | ||||||
| chr1:5958856
|
C | CAAAAAAA others(1): Show |
23 | a0001c0001t0001g0011a0001c0001t0001g0026a0001c0001t0001g0028others(20): Show | 23 | HG00140.hp1 HG00544.hp2 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.673+2930_673+2937d others(10): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958856 | ||||||
| chr1:5958913
|
T | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.673+2881A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5958913 | ||||||
| chr1:5959026
|
C | T | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.673+2768G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959026 | ||||||
| chr1:5959046
|
C | CG | 30 | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0027others(27): Show | 30 | HG00408.hp2 HG00544.hp2 HG00642.hp1 others(27): Show |
intron_variant | MODIFIER | c.673+2747dupC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959046 | ||||||
| chr1:5959046
|
C | G | 1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.673+2748G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959046 | ||||||
| chr1:5959065
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.673+2729C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959065 | ||||||
| chr1:5959088
|
C | A | 1 | a0001c0011t0001g0035 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.673+2706G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959088 | ||||||
| chr1:5959108
|
T | C | 1 | a0001c0004t0001g0181 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.673+2686A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959108 | ||||||
| chr1:5959151
|
C | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.673+2643G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959151 | ||||||
| chr1:5959249
|
G | T | 1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.673+2545C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959249 | ||||||
| chr1:5959259
|
G | A | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+2535C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959259 | ||||||
| chr1:5959290
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.673+2504G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959290 | ||||||
| chr1:5959403
|
T | C | 4 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(1): Show | 4 | HG02647.hp1 HG02896.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.673+2391A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959403 | ||||||
| chr1:5959481
|
G | A | 1 | a0001c0003t0001g0066 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.673+2313C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959481 | ||||||
| chr1:5959650
|
T | G | 1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.673+2144A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959650 | ||||||
| chr1:5959765
|
T | C | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.673+2029A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959765 | ||||||
| chr1:5959774
|
T | C | 61 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(58): Show | 61 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.673+2020A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959774 | ||||||
| chr1:5959775
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+2019C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959775 | ||||||
| chr1:5959811
|
C | T | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.673+1983G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959811 | ||||||
| chr1:5959852
|
G | A | 1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.673+1942C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959852 | ||||||
| chr1:5959912
|
G | C | 1 | a0001c0002t0001g0154 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.673+1882C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959912 | ||||||
| chr1:5959946
|
CAGTT | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.673+1844_673+1847d others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959946 | ||||||
| chr1:5959966
|
T | C | 1 | a0001c0004t0001g0058 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.673+1828A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959966 | ||||||
| chr1:5959995
|
C | A | 1 | a0001c0001t0001g0084 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.673+1799G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5959995 | ||||||
| chr1:5960046
|
G | A | 2 | a0001c0003t0001g0139a0001c0003t0001g0142 | 2 | HG03130.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.673+1748C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960046 | ||||||
| chr1:5960049
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+1745G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960049 | ||||||
| chr1:5960180
|
G | A | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.673+1614C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960180 | ||||||
| chr1:5960295
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+1499G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960295 | ||||||
| chr1:5960366
|
A | C | 1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.673+1428T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960366 | ||||||
| chr1:5960476
|
T | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.673+1318A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960476 | ||||||
| chr1:5960479
|
T | A | 1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.673+1315A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960479 | ||||||
| chr1:5960585
|
T | C | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+1209A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960585 | ||||||
| chr1:5960629
|
T | G | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+1165A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960629 | ||||||
| chr1:5960720
|
C | G | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.673+1074G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960720 | ||||||
| chr1:5960760
|
C | G | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+1034G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960760 | ||||||
| chr1:5960800
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.673+994G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960800 | ||||||
| chr1:5960871
|
G | A | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.673+923C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960871 | ||||||
| chr1:5960874
|
T | C | 12 | a0001c0005t0001g0163a0001c0005t0001g0164a0001c0005t0001g0165others(9): Show | 12 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.673+920A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960874 | ||||||
| chr1:5960918
|
C | T | 1 | a0001c0003t0001g0193 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.673+876G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960918 | ||||||
| chr1:5960932
|
C | T | 59 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(56): Show | 59 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.673+862G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960932 | ||||||
| chr1:5960974
|
T | C | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.673+820A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5960974 | ||||||
| chr1:5961134
|
T | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.673+660A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5961134 | ||||||
| chr1:5961332
|
T | C | 1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.673+462A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5961332 | ||||||
| chr1:5961644
|
T | C | 42 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(39): Show | 42 | HG00544.hp1 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.673+150A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | 5961644 | ||||||
| chr1:5961981
|
T | C | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.518-32A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5961981 | ||||||
| chr1:5962272
|
A | G | 17 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(14): Show | 17 | HG02055.hp2 HG02630.hp1 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.518-323T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962272 | ||||||
| chr1:5962385
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.518-436G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962385 | ||||||
| chr1:5962391
|
A | C | 61 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(58): Show | 61 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.518-442T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962391 | ||||||
| chr1:5962529
|
T | C | 102 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(99): Show | 103 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.518-580A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962529 | ||||||
| chr1:5962547
|
C | A | 163 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(160): Show | 164 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show |
intron_variant | MODIFIER | c.518-598G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962547 | ||||||
| chr1:5962579
|
G | C | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.518-630C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962579 | ||||||
| chr1:5962667
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.518-718C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962667 | ||||||
| chr1:5962680
|
C | T | 1 | a0001c0003t0002g0203 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.518-731G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962680 | ||||||
| chr1:5962755
|
G | A | 4 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(1): Show | 4 | HG00280.hp2 HG02559.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.518-806C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962755 | ||||||
| chr1:5962905
|
C | T | 9 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(6): Show | 9 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.518-956G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962905 | ||||||
| chr1:5962911
|
A | G | 1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.518-962T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5962911 | ||||||
| chr1:5963069
|
TAAAG | T | 30 | a0001c0001t0001g0026a0001c0001t0001g0070a0001c0001t0001g0072others(27): Show | 30 | HG00558.hp1 HG00597.hp1 HG00642.hp2 others(27): Show |
intron_variant | MODIFIER | c.518-1124_518-1121d others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963069 | ||||||
| chr1:5963108
|
A | G | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.518-1159T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963108 | ||||||
| chr1:5963416
|
G | C | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.518-1467C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963416 | ||||||
| chr1:5963492
|
A | C | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.518-1543T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963492 | ||||||
| chr1:5963559
|
T | C | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.518-1610A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963559 | ||||||
| chr1:5963689
|
C | CT | 25 | a0001c0002t0001g0125a0001c0002t0001g0159a0001c0003t0001g0021others(22): Show | 25 | HG00140.hp2 HG00597.hp2 HG00639.hp2 others(22): Show |
intron_variant | MODIFIER | c.518-1741dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963689 | ||||||
| chr1:5963689
|
CT | C | 114 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(111): Show | 114 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.518-1741delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963689 | ||||||
| chr1:5963761
|
C | T | 102 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(99): Show | 103 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.518-1812G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963761 | ||||||
| chr1:5963780
|
C | T | 102 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(99): Show | 103 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.518-1831G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963780 | ||||||
| chr1:5963930
|
T | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.518-1981A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963930 | ||||||
| chr1:5963948
|
A | G | 1 | a0001c0001t0001g0074 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.518-1999T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5963948 | ||||||
| chr1:5964009
|
C | T | 1 | a0001c0003t0001g0060 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.518-2060G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964009 | ||||||
| chr1:5964045
|
T | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.518-2096A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964045 | ||||||
| chr1:5964062
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.518-2113C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964062 | ||||||
| chr1:5964087
|
G | A | 1 | a0001c0002t0001g0129 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.518-2138C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964087 | ||||||
| chr1:5964413
|
C | T | 1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.518-2464G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964413 | ||||||
| chr1:5964501
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.518-2552C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964501 | ||||||
| chr1:5964546
|
T | C | 1 | a0005c0010t0001g0120 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.518-2597A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964546 | ||||||
| chr1:5964813
|
A | G | 119 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(116): Show | 120 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(117): Show |
intron_variant | MODIFIER | c.517+2486T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964813 | ||||||
| chr1:5964891
|
T | C | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.517+2408A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964891 | ||||||
| chr1:5964916
|
A | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.517+2383T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964916 | ||||||
| chr1:5964917
|
T | A | 16 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(13): Show | 16 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.517+2382A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964917 | ||||||
| chr1:5964917
|
T | TTA | 6 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(3): Show | 6 | HG00280.hp1 HG01981.hp2 HG03492.hp2 others(3): Show |
intron_variant | MODIFIER | c.517+2380_517+2381d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964917 | ||||||
| chr1:5964933
|
A | ATTTTTTT others(3): Show |
1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.517+2365_517+2366i others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964933 | ||||||
| chr1:5964935
|
A | ATTTTTTT others(2): Show |
5 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0089others(2): Show | 5 | HG00140.hp1 HG01358.hp1 HG01358.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+2363_517+2364i others(11): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964935 | ||||||
| chr1:5964935
|
A | ATTTTTTT others(3): Show |
2 | a0001c0003t0001g0052a0001c0003t0001g0054 | 2 | HG02258.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.517+2363_517+2364i others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964935 | ||||||
| chr1:5964935
|
A | ATTTTTTT others(4): Show |
1 | a0003c0007t0003g0104 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.517+2363_517+2364i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964935 | ||||||
| chr1:5964935
|
A | T | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.517+2364T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964935 | ||||||
| chr1:5964937
|
A | ATTTTTTT others(2): Show |
49 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(46): Show | 49 | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.517+2361_517+2362i others(11): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964937 | ||||||
| chr1:5964937
|
A | ATTTTTTT others(3): Show |
4 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0083others(1): Show | 4 | HG01106.hp1 HG02056.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.517+2361_517+2362i others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964937 | ||||||
| chr1:5964937
|
A | ATTTTTTT others(4): Show |
2 | a0003c0007t0003g0001a0003c0007t0003g0103 | 3 | HG01884.hp2 HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.517+2361_517+2362i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964937 | ||||||
| chr1:5964937
|
A | ATTTTTTT others(14): Show |
1 | a0001c0004t0001g0180 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.517+2361_517+2362i others(23): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964937 | ||||||
| chr1:5964937
|
A | T | 13 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0014others(10): Show | 13 | HG00140.hp1 HG01358.hp1 HG01358.hp2 others(10): Show |
intron_variant | MODIFIER | c.517+2362T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964937 | ||||||
| chr1:5964939
|
A | ATTTTTTT others(2): Show |
5 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0029others(2): Show | 5 | HG00735.hp2 HG03831.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+2359_517+2360i others(11): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964939 | ||||||
| chr1:5964939
|
A | ATTTTTTT others(3): Show |
5 | a0001c0001t0001g0070a0001c0001t0001g0080a0001c0001t0001g0086others(2): Show | 5 | HG00609.hp1 HG00609.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.517+2359_517+2360i others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964939 | ||||||
| chr1:5964939
|
A | ATTTTTTT others(4): Show |
3 | a0001c0001t0001g0005a0001c0001t0001g0031a0015c0030t0001g0138 | 3 | HG02055.hp2 HG02615.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.517+2359_517+2360i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964939 | ||||||
| chr1:5964939
|
A | ATTTTTTT others(7): Show |
1 | a0001c0004t0001g0181 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.517+2359_517+2360i others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964939 | ||||||
| chr1:5964939
|
A | T | 73 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(70): Show | 74 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(71): Show |
intron_variant | MODIFIER | c.517+2360T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964939 | ||||||
| chr1:5964941
|
A | ATATATAT others(36): Show |
1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(45): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(38): Show |
1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(47): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(32): Show |
1 | a0001c0004t0001g0174 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(41): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(31): Show |
1 | a0001c0004t0001g0044 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(34): Show |
1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(43): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(24): Show |
1 | a0001c0002t0001g0160 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(33): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(23): Show |
1 | a0001c0002t0001g0159 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(28): Show |
1 | a0001c0002t0001g0175 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(37): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(29): Show |
1 | a0001c0004t0001g0191 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(38): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(30): Show |
2 | a0001c0004t0001g0178a0001c0004t0001g0194 | 2 | HG04115.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(39): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(20): Show |
1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(29): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(22): Show |
1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(23): Show |
1 | a0001c0005t0001g0166 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(28): Show |
1 | a0004c0009t0001g0192 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(37): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(30): Show |
1 | a0004c0016t0001g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(39): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(31): Show |
1 | a0001c0004t0001g0182 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(22): Show |
1 | a0001c0005t0001g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(23): Show |
1 | a0001c0005t0001g0167 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(26): Show |
1 | a0001c0004t0001g0183 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(35): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(27): Show |
1 | a0001c0004t0001g0185 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(36): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(31): Show |
1 | a0004c0009t0001g0186 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(18): Show |
1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(27): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(19): Show |
1 | a0001c0005t0001g0164 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(28): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(26): Show |
1 | a0001c0003t0001g0193 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(35): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(28): Show |
1 | a0001c0004t0001g0158 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(37): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(29): Show |
1 | a0007c0026t0004g0205 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(38): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(30): Show |
1 | a0001c0003t0002g0203 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(39): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(17): Show |
1 | a0001c0005t0001g0165 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(18): Show |
3 | a0001c0005t0001g0170a0001c0005t0001g0171a0013c0021t0001g0202 | 3 | HG02647.hp2 HG02895.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(27): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(23): Show |
2 | a0001c0003t0002g0204a0001c0004t0001g0177 | 2 | HG02451.hp1 NA18956.hp2 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(4): Show |
1 | a0001c0003t0001g0066 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(8): Show |
1 | a0001c0003t0001g0021 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(17): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(16): Show |
1 | a0001c0005t0001g0169 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(25): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATAT others(17): Show |
1 | a0001c0005t0001g0173 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(26): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATTT others(4): Show |
1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATTT others(18): Show |
1 | a0001c0005t0001g0172 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(27): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATATTT others(20): Show |
1 | a0011c0020t0001g0168 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(29): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(1): Show |
5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+2357_517+2358i others(10): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(3): Show |
1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(4): Show |
3 | a0001c0003t0001g0057a0001c0003t0001g0064a0001c0003t0001g0068 | 3 | HG00140.hp2 HG01071.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(5): Show |
3 | a0001c0003t0001g0056a0001c0003t0001g0060a0001c0004t0001g0058 | 3 | HG02004.hp1 HG03942.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(6): Show |
1 | a0001c0003t0001g0061 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATATTTTT others(16): Show |
1 | a0001c0017t0001g0188 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.517+2357_517+2358i others(25): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATT | 5 | a0001c0002t0001g0109a0001c0002t0001g0110a0001c0002t0001g0111others(2): Show | 5 | HG00735.hp1 HG01192.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+2356_517+2357d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATTTTTTT others(3): Show |
2 | a0001c0003t0001g0046a0006c0012t0001g0069 | 2 | HG03239.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.517+2348_517+2357d others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATTTTTTT others(4): Show |
3 | a0001c0003t0001g0055a0001c0003t0001g0059a0001c0003t0001g0063 | 3 | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.517+2347_517+2357d others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATTTTTTT others(15): Show |
2 | a0001c0004t0001g0187a0001c0004t0001g0190 | 2 | NA18944.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.517+2357_517+2358i others(24): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | ATTTTTTT others(16): Show |
1 | a0001c0004t0001g0189 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.517+2357_517+2358i others(25): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964941
|
A | T | 94 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(91): Show | 95 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(92): Show |
intron_variant | MODIFIER | c.517+2358T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964941 | ||||||
| chr1:5964943
|
T | A | 4 | a0001c0002t0001g0043a0001c0002t0001g0107a0001c0002t0001g0113others(1): Show | 4 | HG00408.hp2 NA18971.hp1 NA19012.hp1 others(1): Show |
intron_variant | MODIFIER | c.517+2356A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5964943 | ||||||
| chr1:5965057
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.517+2242G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965057 | ||||||
| chr1:5965101
|
G | T | 1 | a0001c0001t0001g0077 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.517+2198C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965101 | ||||||
| chr1:5965405
|
G | A | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.517+1894C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965405 | ||||||
| chr1:5965430
|
C | T | 17 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(14): Show | 17 | HG02145.hp1 HG02145.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.517+1869G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965430 | ||||||
| chr1:5965574
|
G | A | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.517+1725C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965574 | ||||||
| chr1:5965642
|
C | T | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.517+1657G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965642 | ||||||
| chr1:5965702
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.517+1597C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965702 | ||||||
| chr1:5965763
|
C | T | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.517+1536G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965763 | ||||||
| chr1:5965768
|
C | G | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+1531G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965768 | ||||||
| chr1:5965780
|
G | A | 1 | a0001c0001t0001g0101 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.517+1519C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965780 | ||||||
| chr1:5965876
|
C | T | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.517+1423G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965876 | ||||||
| chr1:5965942
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.517+1357C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5965942 | ||||||
| chr1:5966199
|
G | A | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.517+1100C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966199 | ||||||
| chr1:5966231
|
G | A | 4 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(1): Show | 4 | HG02647.hp1 HG02896.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.517+1068C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966231 | ||||||
| chr1:5966363
|
A | G | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.517+936T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966363 | ||||||
| chr1:5966600
|
A | C | 1 | a0001c0004t0001g0158 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.517+699T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966600 | ||||||
| chr1:5966663
|
G | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.517+636C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966663 | ||||||
| chr1:5966858
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.517+441C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5966858 | ||||||
| chr1:5967073
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.517+226C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5967073 | ||||||
| chr1:5967107
|
C | A | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.517+192G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5967107 | ||||||
| chr1:5967192
|
A | G | 111 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(108): Show | 112 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.517+107T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | 5967192 | ||||||
| chr1:5967390
|
C | T | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.453-27G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967390 | ||||||
| chr1:5967401
|
T | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.453-38A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967401 | ||||||
| chr1:5967490
|
C | A | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.453-127G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967490 | ||||||
| chr1:5967490
|
C | T | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.453-127G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967490 | ||||||
| chr1:5967533
|
G | A | 1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.453-170C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967533 | ||||||
| chr1:5967541
|
T | C | 2 | a0005c0010t0001g0120a0005c0010t0001g0121 | 2 | HG02056.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.453-178A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967541 | ||||||
| chr1:5967603
|
C | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.453-240G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967603 | ||||||
| chr1:5967777
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.453-414C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967777 | ||||||
| chr1:5967815
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.453-452C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967815 | ||||||
| chr1:5967852
|
C | T | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.453-489G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967852 | ||||||
| chr1:5967949
|
A | G | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.453-586T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5967949 | ||||||
| chr1:5968161
|
A | G | 4 | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0091others(1): Show | 4 | HG00738.hp1 HG01258.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.453-798T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968161 | ||||||
| chr1:5968274
|
C | G | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.452+813G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968274 | ||||||
| chr1:5968276
|
G | A | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.452+811C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968276 | ||||||
| chr1:5968404
|
C | T | 3 | a0001c0003t0002g0203a0001c0003t0002g0204a0007c0026t0004g0205 | 3 | HG02280.hp2 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.452+683G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968404 | ||||||
| chr1:5968427
|
T | C | 1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.452+660A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968427 | ||||||
| chr1:5968552
|
T | C | 177 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | 178 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(175): Show |
intron_variant | MODIFIER | c.452+535A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968552 | ||||||
| chr1:5968682
|
T | G | 1 | a0001c0001t0001g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.452+405A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968682 | ||||||
| chr1:5968708
|
G | C | 1 | a0001c0001t0001g0009 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.452+379C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5968708 | ||||||
| chr1:5969026
|
CA | C | 109 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(106): Show | 110 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(107): Show |
intron_variant | MODIFIER | c.452+60delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 4/29 | chr1 | 5969026 | ||||||
| chr1:5969455
|
T | C | 1 | a0001c0003t0001g0052 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.280-196A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969455 | ||||||
| chr1:5969475
|
T | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.280-216A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969475 | ||||||
| chr1:5969543
|
C | T | 1 | a0014c0027t0001g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.280-284G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969543 | ||||||
| chr1:5969591
|
A | T | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.280-332T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969591 | ||||||
| chr1:5969767
|
C | A | 1 | a0001c0002t0001g0126 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.280-508G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969767 | ||||||
| chr1:5969777
|
C | G | 3 | a0001c0003t0002g0203a0001c0003t0002g0204a0007c0026t0004g0205 | 3 | HG02280.hp2 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.280-518G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969777 | ||||||
| chr1:5969877
|
G | A | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.280-618C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969877 | ||||||
| chr1:5969967
|
G | A | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.280-708C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5969967 | ||||||
| chr1:5970716
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.280-1457A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970716 | ||||||
| chr1:5970737
|
A | T | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1478T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970737 | ||||||
| chr1:5970751
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1492G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970751 | ||||||
| chr1:5970752
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1493G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970752 | ||||||
| chr1:5970753
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1494A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970753 | ||||||
| chr1:5970754
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1495G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970754 | ||||||
| chr1:5970755
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1496G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970755 | ||||||
| chr1:5970756
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1497A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970756 | ||||||
| chr1:5970757
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1498T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970757 | ||||||
| chr1:5970758
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1499A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970758 | ||||||
| chr1:5970759
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1500A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970759 | ||||||
| chr1:5970760
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1501T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970760 | ||||||
| chr1:5970761
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1502T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970761 | ||||||
| chr1:5970762
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1503G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970762 | ||||||
| chr1:5970764
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1505T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970764 | ||||||
| chr1:5970766
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1507A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970766 | ||||||
| chr1:5970767
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1508G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970767 | ||||||
| chr1:5970768
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1509T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970768 | ||||||
| chr1:5970771
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1512T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970771 | ||||||
| chr1:5970772
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1513G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970772 | ||||||
| chr1:5970773
|
C | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1514G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970773 | ||||||
| chr1:5970774
|
A | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1515T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970774 | ||||||
| chr1:5970778
|
T | A | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.280-1519A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5970778 | ||||||
| chr1:5971053
|
C | T | 1 | a0001c0029t0001g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.280-1794G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971053 | ||||||
| chr1:5971267
|
A | G | 1 | a0001c0002t0001g0043 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.280-2008T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971267 | ||||||
| chr1:5971422
|
T | C | 1 | a0001c0001t0001g0028 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.280-2163A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971422 | ||||||
| chr1:5971454
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0085 | 3 | HG00741.hp2 HG01261.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.280-2195G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971454 | ||||||
| chr1:5971592
|
G | T | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.280-2333C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971592 | ||||||
| chr1:5971680
|
C | A | 1 | a0001c0003t0001g0057 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.280-2421G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971680 | ||||||
| chr1:5971739
|
CGCCACTG others(98): Show |
C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.280-2585_280-2481d others(2): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971739 | ||||||
| chr1:5971793
|
T | G | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
intron_variant | MODIFIER | c.280-2534A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971793 | ||||||
| chr1:5971884
|
C | A | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 102 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.280-2625G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971884 | ||||||
| chr1:5971937
|
A | AATAAATC others(44): Show |
1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.280-2729_280-2679d others(53): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5971937 | ||||||
| chr1:5972004
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.280-2745C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972004 | ||||||
| chr1:5972112
|
A | G | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.280-2853T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972112 | ||||||
| chr1:5972223
|
C | G | 10 | a0001c0003t0001g0199a0001c0003t0001g0200a0002c0006t0001g0134others(7): Show | 10 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.280-2964G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972223 | ||||||
| chr1:5972260
|
G | A | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.280-3001C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972260 | ||||||
| chr1:5972328
|
T | C | 1 | a0001c0002t0001g0112 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.280-3069A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972328 | ||||||
| chr1:5972362
|
A | ATC | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 195 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(192): Show |
intron_variant | MODIFIER | c.280-3104_280-3103i others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972362 | ||||||
| chr1:5972709
|
C | T | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.280-3450G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972709 | ||||||
| chr1:5972874
|
G | GT | 9 | a0001c0001t0001g0028a0001c0002t0001g0117a0001c0002t0001g0127others(6): Show | 9 | HG00544.hp2 HG01192.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.280-3616dupA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972874 | ||||||
| chr1:5972878
|
T | C | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.280-3619A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972878 | ||||||
| chr1:5972879
|
T | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.280-3620A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972879 | ||||||
| chr1:5972906
|
CAG | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.280-3649_280-3648d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972906 | ||||||
| chr1:5972928
|
G | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.280-3669C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972928 | ||||||
| chr1:5972946
|
T | C | 7 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(4): Show | 7 | HG03041.hp2 HG03130.hp1 HG03471.hp2 others(4): Show |
intron_variant | MODIFIER | c.280-3687A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972946 | ||||||
| chr1:5972961
|
T | C | 1 | a0001c0001t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.280-3702A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5972961 | ||||||
| chr1:5973116
|
C | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.280-3857G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973116 | ||||||
| chr1:5973118
|
C | G | 4 | a0001c0003t0002g0157a0001c0003t0002g0203a0001c0003t0002g0204others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.280-3859G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973118 | ||||||
| chr1:5973153
|
G | GGGTGGAC others(49): Show |
1 | a0001c0003t0001g0055 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.280-3895_280-3894i others(58): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973153 | ||||||
| chr1:5973172
|
ACTGCACC others(49): Show |
A | 1 | a0001c0003t0001g0055 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.280-3969_280-3914d others(58): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973172 | ||||||
| chr1:5973271
|
T | C | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.280-4012A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973271 | ||||||
| chr1:5973495
|
G | A | 1 | a0006c0012t0001g0069 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.280-4236C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973495 | ||||||
| chr1:5973659
|
A | G | 1 | a0001c0025t0001g0079 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.280-4400T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973659 | ||||||
| chr1:5973670
|
A | G | 1 | a0001c0003t0001g0021 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.280-4411T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973670 | ||||||
| chr1:5973712
|
G | A | 4 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(1): Show | 4 | HG02647.hp1 HG02896.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.280-4453C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973712 | ||||||
| chr1:5973762
|
CTCATTTC others(23): Show |
C | 1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.279+4478_280-4504d others(32): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973762 | ||||||
| chr1:5973856
|
C | T | 2 | a0001c0003t0001g0052a0001c0003t0001g0065 | 2 | HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.279+4414G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973856 | ||||||
| chr1:5973913
|
C | T | 14 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(11): Show | 14 | HG00280.hp1 HG00735.hp1 HG01074.hp1 others(11): Show |
intron_variant | MODIFIER | c.279+4357G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973913 | ||||||
| chr1:5973941
|
T | C | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.279+4329A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973941 | ||||||
| chr1:5973942
|
G | A | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.279+4328C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5973942 | ||||||
| chr1:5974051
|
C | T | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.279+4219G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974051 | ||||||
| chr1:5974134
|
T | G | 1 | a0001c0001t0001g0072 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.279+4136A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974134 | ||||||
| chr1:5974140
|
G | A | 113 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(110): Show | 114 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.279+4130C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974140 | ||||||
| chr1:5974240
|
G | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.279+4030C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974240 | ||||||
| chr1:5974282
|
C | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+3988G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974282 | ||||||
| chr1:5974535
|
T | TGAATGAT others(14): Show |
1 | a0001c0003t0001g0057 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.279+3714_279+3734d others(23): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974535 | ||||||
| chr1:5974685
|
GAA | G | 19 | a0001c0001t0001g0010a0001c0001t0001g0084a0001c0001t0001g0096others(16): Show | 19 | HG00280.hp2 HG02145.hp1 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.279+3583_279+3584d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974685 | ||||||
| chr1:5974685
|
GAAA | G | 139 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(136): Show | 140 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.279+3582_279+3584d others(5): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974685 | ||||||
| chr1:5974689
|
A | G | 3 | a0001c0004t0001g0182a0001c0004t0001g0183a0001c0004t0001g0185 | 3 | HG00642.hp1 HG01071.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.279+3581T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974689 | ||||||
| chr1:5974727
|
C | A | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.279+3543G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974727 | ||||||
| chr1:5974737
|
T | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.279+3533A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974737 | ||||||
| chr1:5974738
|
C | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.279+3532G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974738 | ||||||
| chr1:5974810
|
TGGGCACT others(4): Show |
T | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.279+3449_279+3459d others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974810 | ||||||
| chr1:5974856
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.279+3414C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974856 | ||||||
| chr1:5974980
|
G | T | 1 | a0001c0002t0001g0128 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.279+3290C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5974980 | ||||||
| chr1:5975041
|
T | TTTTACGA others(3): Show |
1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.279+3219_279+3228d others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975041 | ||||||
| chr1:5975044
|
T | G | 1 | a0001c0002t0001g0159 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.279+3226A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975044 | ||||||
| chr1:5975194
|
GTGCACAC others(12): Show |
G | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.279+3057_279+3075d others(21): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975194 | ||||||
| chr1:5975197
|
C | G | 1 | a0001c0001t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.279+3073G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975197 | ||||||
| chr1:5975240
|
T | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.279+3030A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975240 | ||||||
| chr1:5975261
|
T | G | 1 | a0001c0001t0001g0080 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.279+3009A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975261 | ||||||
| chr1:5975370
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.279+2900G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975370 | ||||||
| chr1:5975377
|
T | C | 1 | a0001c0003t0002g0204 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.279+2893A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975377 | ||||||
| chr1:5975453
|
C | T | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.279+2817G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975453 | ||||||
| chr1:5975554
|
G | A | 1 | a0006c0012t0001g0023 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.279+2716C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975554 | ||||||
| chr1:5975581
|
C | T | 1 | a0006c0012t0001g0023 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.279+2689G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975581 | ||||||
| chr1:5975613
|
G | A | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.279+2657C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975613 | ||||||
| chr1:5975667
|
C | T | 1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.279+2603G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975667 | ||||||
| chr1:5975668
|
G | A | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.279+2602C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975668 | ||||||
| chr1:5975686
|
A | T | 13 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.279+2584T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975686 | ||||||
| chr1:5975694
|
T | A | 1 | a0001c0001t0001g0080 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.279+2576A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975694 | ||||||
| chr1:5975796
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.279+2474C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975796 | ||||||
| chr1:5975844
|
CA | C | 2 | a0001c0001t0001g0099a0001c0005t0001g0171 | 2 | HG02148.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.279+2425delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975844 | ||||||
| chr1:5975851
|
C | G | 1 | a0001c0001t0001g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.279+2419G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975851 | ||||||
| chr1:5975859
|
C | T | 1 | a0001c0015t0001g0012 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.279+2411G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975859 | ||||||
| chr1:5975908
|
G | C | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.279+2362C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975908 | ||||||
| chr1:5975998
|
GT | G | 2 | a0001c0002t0001g0143a0001c0024t0001g0039 | 2 | HG01106.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.279+2271delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5975998 | ||||||
| chr1:5976016
|
AACTGGCC others(9): Show |
A | 1 | a0001c0005t0001g0167 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.279+2238_279+2253d others(18): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976016 | ||||||
| chr1:5976152
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.279+2118A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976152 | ||||||
| chr1:5976155
|
A | T | 133 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(130): Show | 134 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.279+2115T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976155 | ||||||
| chr1:5976175
|
C | T | 77 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(74): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.279+2095G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976175 | ||||||
| chr1:5976272
|
G | A | 1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.279+1998C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976272 | ||||||
| chr1:5976276
|
C | A | 1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.279+1994G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976276 | ||||||
| chr1:5976281
|
C | A | 38 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(35): Show | 39 | HG00140.hp2 HG00639.hp2 HG00738.hp2 others(36): Show |
intron_variant | MODIFIER | c.279+1989G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976281 | ||||||
| chr1:5976292
|
G | A | 1 | a0001c0003t0001g0064 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.279+1978C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976292 | ||||||
| chr1:5976299
|
G | A | 42 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(39): Show | 42 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.279+1971C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976299 | ||||||
| chr1:5976336
|
G | A | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.279+1934C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976336 | ||||||
| chr1:5976406
|
G | C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.279+1864C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976406 | ||||||
| chr1:5976417
|
C | CTCACTGT others(5): Show |
1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.279+1841_279+1852d others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976417 | ||||||
| chr1:5976445
|
G | C | 1 | a0001c0004t0001g0058 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.279+1825C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976445 | ||||||
| chr1:5976536
|
C | A | 1 | a0001c0002t0001g0143 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.279+1734G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976536 | ||||||
| chr1:5976569
|
T | C | 1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.279+1701A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976569 | ||||||
| chr1:5976596
|
T | A | 1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.279+1674A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976596 | ||||||
| chr1:5976626
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.279+1644A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976626 | ||||||
| chr1:5976678
|
A | G | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.279+1592T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976678 | ||||||
| chr1:5976711
|
T | TATTGAAG others(5): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.279+1547_279+1558d others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976711 | ||||||
| chr1:5976804
|
A | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.279+1466T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976804 | ||||||
| chr1:5976858
|
T | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.279+1412A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976858 | ||||||
| chr1:5976874
|
C | A | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.279+1396G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976874 | ||||||
| chr1:5976932
|
C | T | 4 | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0011t0001g0032others(1): Show | 4 | HG00609.hp2 HG02602.hp2 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.279+1338G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976932 | ||||||
| chr1:5976937
|
CA | C | 2 | a0001c0001t0001g0080a0001c0002t0001g0143 | 2 | HG00609.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.279+1332delT | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5976937 | ||||||
| chr1:5977071
|
C | T | 3 | a0001c0003t0001g0052a0001c0003t0001g0054a0001c0003t0001g0065 | 3 | HG02258.hp1 HG02451.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.279+1199G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977071 | ||||||
| chr1:5977116
|
T | TCTCAAAC others(6): Show |
1 | a0001c0001t0001g0074 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.279+1141_279+1153d others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977116 | ||||||
| chr1:5977130
|
C | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+1140G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977130 | ||||||
| chr1:5977167
|
G | C | 1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.279+1103C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977167 | ||||||
| chr1:5977252
|
G | A | 1 | a0001c0005t0001g0166 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.279+1018C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977252 | ||||||
| chr1:5977279
|
G | A | 1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.279+991C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977279 | ||||||
| chr1:5977304
|
G | A | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.279+966C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977304 | ||||||
| chr1:5977360
|
C | T | 1 | a0001c0001t0001g0077 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.279+910G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977360 | ||||||
| chr1:5977364
|
G | A | 3 | a0005c0010t0001g0120a0005c0010t0001g0121a0005c0018t0001g0122 | 3 | HG00408.hp1 HG02056.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.279+906C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977364 | ||||||
| chr1:5977430
|
G | A | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+840C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977430 | ||||||
| chr1:5977456
|
G | A | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.279+814C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977456 | ||||||
| chr1:5977519
|
A | G | 17 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(14): Show | 17 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.279+751T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977519 | ||||||
| chr1:5977543
|
G | A | 117 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(114): Show | 118 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(115): Show |
intron_variant | MODIFIER | c.279+727C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977543 | ||||||
| chr1:5977548
|
C | T | 13 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.279+722G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977548 | ||||||
| chr1:5977553
|
C | CAGTCTGC others(8): Show |
1 | a0003c0007t0003g0104 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.279+702_279+716dup others(15): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977553 | ||||||
| chr1:5977595
|
C | T | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.279+675G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977595 | ||||||
| chr1:5977637
|
T | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.279+633A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977637 | ||||||
| chr1:5977664
|
G | C | 1 | a0001c0001t0001g0094 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.279+606C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977664 | ||||||
| chr1:5977668
|
ATGCCGGC others(6): Show |
A | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.279+589_279+601del others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977668 | ||||||
| chr1:5977669
|
T | C | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
intron_variant | MODIFIER | c.279+601A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977669 | ||||||
| chr1:5977677
|
C | T | 1 | a0001c0033t0003g0019 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.279+593G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977677 | ||||||
| chr1:5977682
|
G | C | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.279+588C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977682 | ||||||
| chr1:5977693
|
G | A | 118 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(115): Show | 119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.279+577C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977693 | ||||||
| chr1:5977708
|
T | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.279+562A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977708 | ||||||
| chr1:5977713
|
ACACGCTG others(62): Show |
A | 1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.279+488_279+556del others(69): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977713 | ||||||
| chr1:5977733
|
C | CCATCCAC others(3): Show |
1 | a0001c0001t0001g0008 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.279+527_279+536dup others(10): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977733 | ||||||
| chr1:5977783
|
C | A | 1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.279+487G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977783 | ||||||
| chr1:5977811
|
TTACTAAA others(30): Show |
T | 1 | a0001c0002t0001g0160 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.279+422_279+458del others(37): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977811 | ||||||
| chr1:5977845
|
G | A | 1 | a0001c0003t0001g0059 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.279+425C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977845 | ||||||
| chr1:5977875
|
G | A | 27 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0003t0002g0157others(24): Show | 27 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(24): Show |
intron_variant | MODIFIER | c.279+395C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977875 | ||||||
| chr1:5977875
|
G | GGAGGGAA others(9): Show |
1 | a0001c0003t0001g0055 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.279+394_279+395ins others(16): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977875 | ||||||
| chr1:5977885
|
G | A | 1 | a0001c0003t0001g0055 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.279+385C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977885 | ||||||
| chr1:5977896
|
G | GGGAAGGA others(942): Show |
1 | a0001c0002t0001g0132 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.279+373_279+374ins others(949): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977896 | ||||||
| chr1:5977896
|
G | GGGAAGGA others(1439): Show |
1 | a0001c0001t0001g0070 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.279+373_279+374ins others(1446): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977896 | ||||||
| chr1:5977896
|
G | GGGAAGGA others(965): Show |
1 | a0001c0002t0001g0130 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.279+373_279+374ins others(972): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977896 | ||||||
| chr1:5977897
|
G | GGAAGGAG others(777): Show |
1 | a0004c0009t0001g0192 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.279+372_279+373ins others(784): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977897 | ||||||
| chr1:5977900
|
A | AAGAAGAA others(1469): Show |
1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.279+369_279+370ins others(1476): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977900 | ||||||
| chr1:5977900
|
A | AAGAAGAA others(1446): Show |
1 | a0001c0001t0001g0011 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.279+369_279+370ins others(1453): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977900 | ||||||
| chr1:5977900
|
A | G | 4 | a0001c0001t0001g0070a0001c0002t0001g0130a0001c0002t0001g0132others(1): Show | 4 | HG00558.hp2 HG02735.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.279+370T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977900 | ||||||
| chr1:5977900
|
A | T | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.279+370T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977900 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(881): Show |
1 | a0001c0002t0001g0161 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(888): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1442): Show |
1 | a0001c0001t0001g0016 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1449): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1426): Show |
1 | a0001c0001t0001g0017 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1433): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1186): Show |
1 | a0002c0006t0001g0136 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1193): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1193): Show |
1 | a0002c0006t0001g0134 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1200): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1171): Show |
1 | a0002c0031t0001g0137 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1178): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1187): Show |
1 | a0002c0006t0001g0135 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1194): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1199): Show |
2 | a0002c0006t0002g0197a0002c0006t0002g0198 | 2 | HG03453.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(1206): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1200): Show |
1 | a0002c0032t0002g0196 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1207): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1200): Show |
1 | a0002c0006t0002g0195 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1207): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1340): Show |
1 | a0003c0007t0003g0103 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1347): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(930): Show |
1 | a0001c0001t0001g0030 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(937): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(827): Show |
1 | a0001c0002t0001g0159 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(834): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1333): Show |
1 | a0003c0007t0003g0104 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1340): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1436): Show |
1 | a0001c0001t0001g0038 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1443): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1430): Show |
1 | a0001c0003t0001g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1437): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(826): Show |
1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(833): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1401): Show |
1 | a0001c0029t0001g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1408): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(993): Show |
1 | a0001c0003t0001g0119 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1000): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(825): Show |
1 | a0001c0005t0001g0171 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(832): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(841): Show |
1 | a0011c0020t0001g0168 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(848): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(816): Show |
1 | a0001c0005t0001g0166 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(823): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(817): Show |
3 | a0001c0005t0001g0163a0001c0005t0001g0164a0001c0005t0001g0165 | 3 | HG02280.hp1 HG02976.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.279+365_279+366ins others(824): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(825): Show |
1 | a0001c0005t0001g0167 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(832): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(819): Show |
1 | a0001c0005t0001g0162 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(826): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(803): Show |
1 | a0013c0021t0001g0202 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(810): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(787): Show |
1 | a0001c0005t0001g0169 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(794): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(833): Show |
2 | a0001c0005t0001g0172a0001c0005t0001g0173 | 2 | HG02965.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(840): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(825): Show |
1 | a0001c0005t0001g0170 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(832): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1083): Show |
1 | a0001c0002t0001g0116 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1090): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1096): Show |
1 | a0001c0002t0001g0115 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1103): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1067): Show |
1 | a0001c0002t0001g0114 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1074): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1091): Show |
1 | a0001c0002t0001g0112 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1098): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1089): Show |
1 | a0001c0002t0001g0110 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1096): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1056): Show |
1 | a0001c0002t0001g0107 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1063): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1057): Show |
1 | a0001c0002t0001g0113 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1064): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1050): Show |
1 | a0001c0002t0001g0109 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1057): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1054): Show |
1 | a0001c0002t0001g0117 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1061): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1047): Show |
1 | a0001c0002t0001g0111 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1054): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1084): Show |
1 | a0001c0002t0001g0118 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1091): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(965): Show |
1 | a0001c0002t0001g0123 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(972): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(966): Show |
1 | a0001c0002t0001g0124 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(973): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(972): Show |
1 | a0001c0002t0001g0128 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(979): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(959): Show |
1 | a0001c0008t0001g0146 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(966): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(965): Show |
1 | a0001c0002t0001g0129 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(972): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1003): Show |
1 | a0005c0010t0001g0120 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1010): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(977): Show |
1 | a0005c0018t0001g0122 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(984): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(979): Show |
1 | a0005c0010t0001g0121 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(986): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(957): Show |
1 | a0001c0008t0001g0153 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(964): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(958): Show |
3 | a0001c0002t0001g0151a0001c0002t0001g0155a0001c0008t0001g0152 | 3 | HG00099.hp2 HG01255.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(965): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(959): Show |
1 | a0016c0014t0001g0145 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(966): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(959): Show |
1 | a0001c0002t0001g0147 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(966): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(970): Show |
1 | a0001c0003t0001g0133 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(977): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(973): Show |
1 | a0017c0035t0001g0105 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(980): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(971): Show |
1 | a0001c0002t0001g0131 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(978): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(972): Show |
5 | a0001c0002t0001g0126a0001c0002t0001g0148a0001c0002t0001g0149others(2): Show | 5 | HG01928.hp1 HG02155.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+365_279+366ins others(979): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(959): Show |
1 | a0001c0002t0001g0156 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(966): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(964): Show |
1 | a0001c0002t0001g0144 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(971): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(974): Show |
1 | a0001c0002t0001g0125 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(981): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1381): Show |
1 | a0001c0001t0001g0072 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1388): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1428): Show |
1 | a0001c0001t0001g0026 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1435): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1462): Show |
1 | a0014c0027t0001g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1469): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1386): Show |
1 | a0001c0001t0001g0089 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1393): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1469): Show |
1 | a0001c0001t0001g0100 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1476): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1509): Show |
1 | a0001c0025t0001g0079 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1516): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1451): Show |
1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1458): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1561): Show |
1 | a0001c0003t0001g0045 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1568): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1523): Show |
1 | a0001c0003t0001g0046 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1530): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1425): Show |
1 | a0001c0001t0001g0049 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1432): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1424): Show |
1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1431): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1440): Show |
1 | a0001c0001t0001g0022 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1447): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1454): Show |
1 | a0001c0001t0001g0025 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1461): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1446): Show |
1 | a0001c0001t0001g0047 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1453): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1424): Show |
1 | a0001c0001t0001g0051 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1431): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1435): Show |
1 | a0001c0001t0001g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1442): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1453): Show |
1 | a0001c0001t0001g0048 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1460): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1467): Show |
1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1474): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1505): Show |
1 | a0001c0015t0001g0012 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1512): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1437): Show |
1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1444): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1428): Show |
2 | a0001c0001t0001g0004a0001c0001t0001g0010 | 2 | HG00280.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.279+365_279+366ins others(1435): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1468): Show |
1 | a0001c0001t0001g0088 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1475): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1454): Show |
1 | a0001c0001t0001g0036 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1461): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1387): Show |
1 | a0001c0001t0001g0003 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1394): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1422): Show |
1 | a0001c0001t0001g0013 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1429): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1438): Show |
1 | a0001c0001t0001g0083 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1445): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1381): Show |
1 | a0001c0001t0001g0014 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1388): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1421): Show |
1 | a0001c0001t0001g0085 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1428): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(931): Show |
1 | a0001c0001t0001g0037 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(938): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1392): Show |
1 | a0001c0001t0001g0005 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1399): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1410): Show |
1 | a0001c0002t0001g0090 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1417): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1474): Show |
1 | a0001c0001t0001g0091 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1481): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1452): Show |
1 | a0001c0033t0003g0019 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1459): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1450): Show |
1 | a0001c0001t0001g0008 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1457): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1420): Show |
1 | a0001c0001t0001g0087 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1427): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1434): Show |
1 | a0001c0001t0001g0092 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1441): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1454): Show |
1 | a0001c0001t0001g0031 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1461): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1433): Show |
1 | a0001c0001t0001g0028 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1440): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1439): Show |
1 | a0006c0012t0001g0023 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1446): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1466): Show |
1 | a0001c0001t0001g0076 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1473): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1451): Show |
1 | a0001c0001t0001g0081 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1458): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1463): Show |
1 | a0001c0024t0001g0039 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1470): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1457): Show |
1 | a0001c0011t0001g0035 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1464): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1442): Show |
1 | a0001c0001t0001g0034 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1449): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1420): Show |
1 | a0006c0012t0001g0069 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1427): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1448): Show |
1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1455): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1458): Show |
1 | a0001c0001t0001g0084 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1465): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1327): Show |
1 | a0001c0001t0001g0077 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1334): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1431): Show |
1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1438): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(925): Show |
1 | a0001c0001t0001g0029 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(932): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1478): Show |
1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1485): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1479): Show |
1 | a0001c0001t0001g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1486): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1475): Show |
1 | a0001c0001t0001g0086 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1482): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1606): Show |
1 | a0001c0011t0001g0032 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1613): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1445): Show |
1 | a0001c0001t0001g0097 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1452): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1420): Show |
1 | a0001c0001t0001g0082 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1427): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(816): Show |
1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(823): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1407): Show |
1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1414): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1350): Show |
1 | a0001c0034t0006g0206 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1357): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1321): Show |
1 | a0001c0001t0001g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1328): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1354): Show |
1 | a0003c0007t0003g0001 | 2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(1361): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1381): Show |
1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1388): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1330): Show |
1 | a0001c0003t0001g0056 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1337): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1316): Show |
1 | a0001c0023t0001g0062 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1323): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1407): Show |
1 | a0001c0003t0001g0052 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1414): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1327): Show |
1 | a0001c0003t0001g0057 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1334): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1261): Show |
1 | a0001c0003t0001g0064 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1268): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1460): Show |
1 | a0001c0003t0001g0063 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1467): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1373): Show |
1 | a0001c0003t0001g0061 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1380): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1488): Show |
1 | a0001c0003t0001g0059 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1495): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1345): Show |
1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1352): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1347): Show |
1 | a0001c0003t0001g0060 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1354): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1402): Show |
1 | a0001c0003t0001g0065 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1409): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1349): Show |
1 | a0001c0003t0001g0068 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1356): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1364): Show |
1 | a0001c0004t0001g0058 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1371): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1330): Show |
1 | a0001c0003t0001g0199 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1337): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1094): Show |
1 | a0001c0002t0001g0106 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1101): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1435): Show |
1 | a0001c0001t0001g0093 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1442): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1400): Show |
1 | a0001c0001t0001g0096 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1407): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1425): Show |
1 | a0001c0001t0001g0094 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1432): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1427): Show |
1 | a0001c0001t0001g0101 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1434): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1430): Show |
1 | a0001c0001t0001g0095 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1437): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1351): Show |
1 | a0001c0003t0001g0066 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1358): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1407): Show |
1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1414): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1441): Show |
1 | a0001c0001t0001g0009 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1448): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1419): Show |
1 | a0001c0001t0001g0080 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1426): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1415): Show |
1 | a0001c0001t0001g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1422): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1459): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1466): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(2178): Show |
1 | a0001c0003t0001g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(2185): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1429): Show |
1 | a0001c0001t0001g0078 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1436): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1444): Show |
1 | a0001c0001t0001g0027 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1451): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(795): Show |
1 | a0001c0002t0001g0175 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(802): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(808): Show |
1 | a0001c0004t0001g0174 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(815): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(802): Show |
1 | a0001c0017t0001g0188 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(809): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(790): Show |
2 | a0001c0004t0001g0044a0001c0004t0001g0191 | 2 | HG00639.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.279+365_279+366ins others(797): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(803): Show |
1 | a0004c0016t0001g0184 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(810): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(789): Show |
2 | a0001c0004t0001g0189a0001c0004t0001g0190 | 2 | NA18944.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(796): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(791): Show |
1 | a0001c0004t0001g0181 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(798): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(804): Show |
1 | a0001c0004t0001g0178 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(811): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(814): Show |
1 | a0001c0004t0001g0185 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(821): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(817): Show |
1 | a0001c0003t0001g0193 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(824): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(815): Show |
3 | a0001c0004t0001g0182a0001c0004t0001g0183a0012c0019t0001g0176 | 3 | HG00642.hp1 HG01255.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.279+365_279+366ins others(822): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(825): Show |
1 | a0004c0009t0001g0186 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(832): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(818): Show |
1 | a0001c0004t0001g0180 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(825): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(816): Show |
1 | a0001c0004t0001g0158 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(823): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(848): Show |
1 | a0001c0004t0001g0177 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(855): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(834): Show |
1 | a0001c0003t0002g0203 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(841): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(840): Show |
1 | a0001c0003t0002g0204 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(847): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(823): Show |
1 | a0007c0026t0004g0205 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(830): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1341): Show |
1 | a0001c0003t0001g0021 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1348): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(953): Show |
1 | a0001c0003t0001g0139 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(960): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(884): Show |
1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(891): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(893): Show |
1 | a0001c0003t0001g0140 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(900): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(886): Show |
1 | a0001c0003t0001g0141 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(893): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(899): Show |
1 | a0001c0003t0001g0102 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(906): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(795): Show |
1 | a0001c0002t0001g0160 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(802): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(810): Show |
1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(817): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(993): Show |
1 | a0001c0002t0001g0127 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(1000): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1118): Show |
1 | a0001c0002t0001g0108 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1125): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(1404): Show |
1 | a0001c0001t0001g0074 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(1411): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(806): Show |
1 | a0001c0004t0001g0179 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(813): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(790): Show |
1 | a0001c0004t0001g0187 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(797): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGAGA others(982): Show |
1 | a0001c0002t0001g0154 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.279+365_279+366ins others(989): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | AGAAGGAG others(966): Show |
1 | a0001c0002t0001g0143 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.279+365_279+366ins others(973): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977904
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0070others(3): Show | 6 | HG00140.hp1 HG00558.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.279+366T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977904 | ||||||
| chr1:5977906
|
A | AAGAGAGG others(1061): Show |
1 | a0001c0002t0001g0043 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.279+363_279+364ins others(1068): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977906 | ||||||
| chr1:5977906
|
A | AAGAGAGG others(1560): Show |
1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.279+363_279+364ins others(1567): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977906 | ||||||
| chr1:5977906
|
A | AAGGAGGG others(1438): Show |
1 | a0001c0003t0001g0055 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.279+363_279+364ins others(1445): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977906 | ||||||
| chr1:5977907
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.279+363C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977907 | ||||||
| chr1:5977913
|
G | T | 1 | a0003c0007t0003g0103 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.279+357C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977913 | ||||||
| chr1:5977918
|
A | G | 4 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(1): Show | 4 | HG02145.hp2 HG02559.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.279+352T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977918 | ||||||
| chr1:5977921
|
A | C | 2 | a0001c0002t0001g0143a0008c0037t0001g0006 | 2 | HG02300.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.279+349T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977921 | ||||||
| chr1:5977924
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+346T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977924 | ||||||
| chr1:5977926
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+344T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977926 | ||||||
| chr1:5977930
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+340T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977930 | ||||||
| chr1:5977945
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+325T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977945 | ||||||
| chr1:5977949
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+321T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977949 | ||||||
| chr1:5977977
|
AT | A | 2 | a0001c0024t0001g0039a0008c0037t0001g0006 | 2 | HG01106.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.279+292delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977977 | ||||||
| chr1:5977979
|
TC | T | 3 | a0001c0003t0001g0054a0001c0029t0001g0073a0004c0009t0001g0192 | 3 | HG02015.hp2 HG02258.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.279+290delG | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5977979 | ||||||
| chr1:5978004
|
A | C | 1 | a0008c0037t0001g0006 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279+266T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5978004 | ||||||
| chr1:5978022
|
TC | T | 3 | a0001c0001t0001g0024a0001c0001t0001g0072a0001c0003t0001g0021 | 3 | HG00639.hp2 HG01433.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.279+247delG | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5978022 | ||||||
| chr1:5978213
|
A | C | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.279+57T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5978213 | ||||||
| chr1:5978223
|
A | C | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.279+47T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | 5978223 | ||||||
| chr1:5978493
|
T | C | 1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.136-80A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978493 | ||||||
| chr1:5978523
|
G | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.136-110C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978523 | ||||||
| chr1:5978574
|
T | TTATTGGG others(32): Show |
1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-162_136-161ins others(39): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978574 | ||||||
| chr1:5978575
|
G | T | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-162C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978575 | ||||||
| chr1:5978618
|
A | G | 2 | a0001c0001t0001g0041a0006c0012t0001g0023 | 2 | HG03239.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.136-205T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978618 | ||||||
| chr1:5978637
|
C | G | 13 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(10): Show | 13 | HG02145.hp1 HG02280.hp1 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.136-224G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978637 | ||||||
| chr1:5978812
|
T | A | 2 | a0001c0001t0001g0091a0001c0002t0001g0090 | 2 | HG01258.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.136-399A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978812 | ||||||
| chr1:5978829
|
T | G | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.136-416A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978829 | ||||||
| chr1:5978852
|
G | T | 161 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(158): Show | 162 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
intron_variant | MODIFIER | c.136-439C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978852 | ||||||
| chr1:5978854
|
A | T | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-441T>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978854 | ||||||
| chr1:5978894
|
T | C | 5 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | HG00738.hp2 HG02886.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.136-481A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5978894 | ||||||
| chr1:5979012
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.136-599G>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979012 | ||||||
| chr1:5979015
|
AGCAGCCA others(32): Show |
A | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.136-641_136-603del others(39): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979015 | ||||||
| chr1:5979064
|
G | A | 1 | a0001c0004t0001g0191 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.136-651C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979064 | ||||||
| chr1:5979067
|
T | C | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.136-654A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979067 | ||||||
| chr1:5979194
|
T | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.136-781A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979194 | ||||||
| chr1:5979200
|
T | A | 1 | a0001c0036t0001g0040 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.136-787A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979200 | ||||||
| chr1:5979337
|
G | A | 1 | a0015c0030t0001g0138 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.136-924C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979337 | ||||||
| chr1:5979393
|
G | C | 1 | a0001c0001t0001g0092 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.136-980C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979393 | ||||||
| chr1:5979520
|
T | C | 1 | a0001c0001t0001g0022 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.136-1107A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979520 | ||||||
| chr1:5979549
|
GTTT | G | 4 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(1): Show | 4 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.136-1139_136-1137d others(5): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979549 | ||||||
| chr1:5979552
|
T | G | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-1139A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979552 | ||||||
| chr1:5979573
|
G | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.136-1160C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979573 | ||||||
| chr1:5979660
|
C | T | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG00738.hp2 HG02886.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.136-1247G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979660 | ||||||
| chr1:5979683
|
C | G | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-1270G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979683 | ||||||
| chr1:5979684
|
G | C | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-1271C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979684 | ||||||
| chr1:5979743
|
T | C | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.136-1330A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979743 | ||||||
| chr1:5979893
|
G | A | 4 | a0001c0004t0001g0187a0001c0004t0001g0189a0001c0004t0001g0190others(1): Show | 4 | NA18944.hp1 NA18969.hp1 NA19074.hp2 others(1): Show |
intron_variant | MODIFIER | c.136-1480C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979893 | ||||||
| chr1:5979990
|
G | T | 1 | a0001c0003t0001g0102 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.136-1577C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5979990 | ||||||
| chr1:5980004
|
G | A | 1 | a0001c0003t0001g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.136-1591C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980004 | ||||||
| chr1:5980022
|
A | C | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 179 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.136-1609T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980022 | ||||||
| chr1:5980103
|
G | A | 3 | a0001c0003t0002g0203a0001c0003t0002g0204a0007c0026t0004g0205 | 3 | HG02280.hp2 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.136-1690C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980103 | ||||||
| chr1:5980247
|
C | G | 1 | a0001c0003t0001g0066 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.136-1834G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980247 | ||||||
| chr1:5980336
|
C | G | 13 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(10): Show | 13 | HG00280.hp1 HG00735.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.136-1923G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980336 | ||||||
| chr1:5980365
|
C | T | 1 | a0014c0027t0001g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.136-1952G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980365 | ||||||
| chr1:5980415
|
G | GC | 43 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(40): Show | 43 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.136-2003dupG | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980415 | ||||||
| chr1:5980423
|
G | A | 2 | a0001c0001t0001g0100a0001c0004t0001g0191 | 2 | HG01074.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.136-2010C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980423 | ||||||
| chr1:5980524
|
G | A | 2 | a0001c0003t0001g0133a0015c0030t0001g0138 | 2 | HG02055.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.136-2111C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980524 | ||||||
| chr1:5980594
|
C | G | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.136-2181G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980594 | ||||||
| chr1:5980598
|
A | ACAGGGAG others(3): Show |
3 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010 | 3 | HG00280.hp2 HG03669.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.136-2195_136-2186d others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980598 | ||||||
| chr1:5980650
|
C | T | 11 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0003t0001g0045others(8): Show | 12 | HG00738.hp2 HG01884.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.136-2237G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980650 | ||||||
| chr1:5980802
|
G | A | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01928.hp2 HG01981.hp1 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.136-2389C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980802 | ||||||
| chr1:5980854
|
G | A | 16 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(13): Show | 16 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.136-2441C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5980854 | ||||||
| chr1:5981226
|
C | T | 5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.136-2813G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981226 | ||||||
| chr1:5981308
|
T | C | 31 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(28): Show | 31 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.136-2895A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981308 | ||||||
| chr1:5981422
|
C | T | 36 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(33): Show | 36 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(33): Show |
intron_variant | MODIFIER | c.136-3009G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981422 | ||||||
| chr1:5981502
|
A | G | 1 | a0001c0001t0001g0022 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.136-3089T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981502 | ||||||
| chr1:5981751
|
T | C | 1 | a0001c0001t0001g0097 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.136-3338A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981751 | ||||||
| chr1:5981996
|
C | T | 31 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(28): Show | 31 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.136-3583G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5981996 | ||||||
| chr1:5982057
|
G | A | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.136-3644C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982057 | ||||||
| chr1:5982109
|
T | C | 8 | a0002c0006t0001g0134a0002c0006t0001g0135a0002c0006t0001g0136others(5): Show | 8 | HG02630.hp1 HG02647.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.136-3696A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982109 | ||||||
| chr1:5982125
|
T | C | 5 | a0001c0005t0001g0169a0001c0005t0001g0170a0001c0005t0001g0171others(2): Show | 5 | HG02647.hp2 HG02895.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.136-3712A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982125 | ||||||
| chr1:5982160
|
G | A | 162 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(159): Show | 163 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show |
intron_variant | MODIFIER | c.136-3747C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982160 | ||||||
| chr1:5982309
|
T | C | 1 | a0004c0009t0001g0192 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.135+3846A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982309 | ||||||
| chr1:5982353
|
C | T | 16 | a0001c0003t0001g0021a0001c0003t0001g0052a0001c0003t0001g0053others(13): Show | 16 | HG00140.hp2 HG00639.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.135+3802G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982353 | ||||||
| chr1:5982874
|
G | A | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 102 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.135+3281C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5982874 | ||||||
| chr1:5983077
|
C | T | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.135+3078G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983077 | ||||||
| chr1:5983146
|
ATC | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.135+3007_135+3008d others(4): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983146 | ||||||
| chr1:5983575
|
C | T | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.135+2580G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983575 | ||||||
| chr1:5983583
|
G | T | 1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.135+2572C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983583 | ||||||
| chr1:5983742
|
T | C | 23 | a0001c0005t0001g0162a0001c0005t0001g0163a0001c0005t0001g0164others(20): Show | 23 | HG02055.hp2 HG02145.hp1 HG02280.hp1 others(20): Show |
intron_variant | MODIFIER | c.135+2413A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983742 | ||||||
| chr1:5983749
|
G | A | 31 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(28): Show | 31 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.135+2406C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983749 | ||||||
| chr1:5983870
|
A | G | 1 | a0001c0003t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.135+2285T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983870 | ||||||
| chr1:5983912
|
G | A | 31 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(28): Show | 31 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.135+2243C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5983912 | ||||||
| chr1:5984019
|
A | G | 1 | a0012c0019t0001g0176 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.135+2136T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984019 | ||||||
| chr1:5984034
|
C | T | 1 | a0001c0001t0001g0101 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.135+2121G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984034 | ||||||
| chr1:5984114
|
C | T | 2 | a0001c0002t0001g0175a0001c0004t0001g0174 | 2 | HG00099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.135+2041G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984114 | ||||||
| chr1:5984115
|
G | A | 1 | a0001c0003t0001g0193 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.135+2040C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984115 | ||||||
| chr1:5984542
|
A | G | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.135+1613T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984542 | ||||||
| chr1:5984663
|
T | C | 1 | a0001c0002t0001g0155 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.135+1492A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984663 | ||||||
| chr1:5984962
|
G | A | 48 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(45): Show | 48 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(45): Show |
intron_variant | MODIFIER | c.135+1193C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5984962 | ||||||
| chr1:5985121
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.135+1034G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5985121 | ||||||
| chr1:5985124
|
T | C | 1 | a0001c0003t0002g0157 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.135+1031A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5985124 | ||||||
| chr1:5985224
|
C | T | 1 | a0001c0003t0001g0052 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.135+931G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5985224 | ||||||
| chr1:5985312
|
G | A | 78 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(75): Show | 78 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.135+843C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5985312 | ||||||
| chr1:5986125
|
C | G | 1 | a0002c0006t0002g0195 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.135+30G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5986125 | ||||||
| chr1:5986127
|
C | T | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.135+28G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 2/29 | chr1 | 5986127 | ||||||
| chr1:5986372
|
C | G | 105 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(102): Show | 105 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show |
intron_variant | MODIFIER | c.-38-45G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5986372 | ||||||
| chr1:5987114
|
T | G | 3 | a0001c0003t0001g0199a0001c0003t0001g0200a0010c0022t0005g0207 | 3 | HG03453.hp2 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-38-787A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987114 | ||||||
| chr1:5987116
|
A | G | 110 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(107): Show | 111 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.-38-789T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987116 | ||||||
| chr1:5987190
|
C | T | 1 | a0006c0012t0001g0069 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-38-863G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987190 | ||||||
| chr1:5987427
|
AT | A | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-38-1101delA | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987427 | ||||||
| chr1:5987591
|
T | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-38-1264A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987591 | ||||||
| chr1:5987724
|
G | A | 1 | a0001c0003t0001g0200 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-38-1397C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987724 | ||||||
| chr1:5987914
|
G | A | 1 | a0001c0003t0001g0067 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-38-1587C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987914 | ||||||
| chr1:5987940
|
A | C | 2 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-38-1613T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987940 | ||||||
| chr1:5987945
|
G | A | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-38-1618C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5987945 | ||||||
| chr1:5988132
|
T | C | 4 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0033t0003g0019others(1): Show | 4 | HG02258.hp2 HG02622.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.-38-1805A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988132 | ||||||
| chr1:5988217
|
G | A | 1 | a0001c0002t0001g0156 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-38-1890C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988217 | ||||||
| chr1:5988438
|
A | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-38-2111T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988438 | ||||||
| chr1:5988488
|
T | C | 1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-38-2161A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988488 | ||||||
| chr1:5988581
|
T | G | 1 | a0001c0003t0001g0068 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-38-2254A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988581 | ||||||
| chr1:5988702
|
T | C | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.-38-2375A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988702 | ||||||
| chr1:5988714
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-38-2387C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988714 | ||||||
| chr1:5988744
|
G | GCCTTGGC others(42): Show |
5 | a0001c0003t0001g0102a0001c0003t0001g0139a0001c0003t0001g0140others(2): Show | 5 | HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.-38-2466_-38-2418d others(51): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988744 | ||||||
| chr1:5988744
|
GCCTTGGC others(42): Show |
G | 1 | a0001c0001t0001g0020 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-38-2466_-38-2418d others(51): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988744 | ||||||
| chr1:5988780
|
C | T | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.-38-2453G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988780 | ||||||
| chr1:5988805
|
G | GGTCCCGC others(42): Show |
1 | a0010c0022t0005g0207 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-38-2479_-38-2478i others(51): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988805 | ||||||
| chr1:5988835
|
C | T | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-38-2508G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988835 | ||||||
| chr1:5988855
|
G | A | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-38-2528C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988855 | ||||||
| chr1:5988914
|
CCAGACTC others(3): Show |
C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-38-2597_-38-2588d others(12): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988914 | ||||||
| chr1:5988998
|
C | T | 54 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(51): Show | 54 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(51): Show |
intron_variant | MODIFIER | c.-38-2671G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5988998 | ||||||
| chr1:5989364
|
G | A | 1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-39+2880C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989364 | ||||||
| chr1:5989568
|
TG | T | 80 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 80 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.-39+2675delC | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989568 | ||||||
| chr1:5989596
|
C | G | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-39+2648G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989596 | ||||||
| chr1:5989717
|
G | A | 1 | a0001c0004t0001g0194 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.-39+2527C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989717 | ||||||
| chr1:5989741
|
C | T | 45 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(42): Show | 45 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.-39+2503G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989741 | ||||||
| chr1:5989839
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0008c0037t0001g0006 | 3 | HG02258.hp2 HG02622.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-39+2405G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989839 | ||||||
| chr1:5989875
|
G | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-39+2369C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989875 | ||||||
| chr1:5989910
|
G | A | 23 | a0001c0002t0001g0175a0001c0003t0001g0193a0001c0004t0001g0044others(20): Show | 23 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.-39+2334C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5989910 | ||||||
| chr1:5990073
|
C | T | 44 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(41): Show | 44 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.-39+2171G>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990073 | ||||||
| chr1:5990420
|
G | A | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-39+1824C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990420 | ||||||
| chr1:5990451
|
A | C | 3 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161 | 3 | HG02145.hp2 HG02559.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-39+1793T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990451 | ||||||
| chr1:5990480
|
A | G | 110 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(107): Show | 111 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.-39+1764T>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990480 | ||||||
| chr1:5990518
|
T | A | 5 | a0001c0034t0006g0206a0003c0007t0003g0001a0003c0007t0003g0103others(2): Show | 6 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-39+1726A>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990518 | ||||||
| chr1:5990603
|
G | C | 2 | a0001c0003t0001g0199a0001c0003t0001g0200 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-39+1641C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990603 | ||||||
| chr1:5990874
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-39+1370A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5990874 | ||||||
| chr1:5991192
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-39+1052C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991192 | ||||||
| chr1:5991206
|
C | G | 102 | a0001c0002t0001g0043a0001c0002t0001g0106a0001c0002t0001g0107others(99): Show | 103 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(100): Show |
intron_variant | MODIFIER | c.-39+1038G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991206 | ||||||
| chr1:5991276
|
AC | A | 73 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(70): Show | 73 | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(70): Show |
intron_variant | MODIFIER | c.-39+967delG | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991276 | ||||||
| chr1:5991382
|
T | G | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39+862A>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991382 | ||||||
| chr1:5991402
|
C | CACCATCA others(24): Show |
1 | a0009c0013t0001g0042 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-39+811_-39+841dup others(31): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991402 | ||||||
| chr1:5991447
|
G | T | 1 | a0017c0035t0001g0105 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-39+797C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991447 | ||||||
| chr1:5991570
|
C | CCCCCCCC others(49): Show |
1 | a0001c0004t0001g0158 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.-39+673_-39+674ins others(56): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991570 | ||||||
| chr1:5991598
|
G | A | 2 | a0001c0034t0006g0206a0010c0022t0005g0207 | 2 | HG03209.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-39+646C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991598 | ||||||
| chr1:5991649
|
G | T | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-39+595C>A | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991649 | ||||||
| chr1:5991653
|
G | A | 3 | a0003c0007t0003g0001a0003c0007t0003g0103a0003c0007t0003g0104 | 4 | HG01884.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.-39+591C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991653 | ||||||
| chr1:5991752
|
A | C | 4 | a0001c0003t0002g0157a0003c0007t0003g0001a0003c0007t0003g0103others(1): Show | 5 | HG01884.hp2 HG02055.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.-39+492T>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991752 | ||||||
| chr1:5991819
|
G | A | 14 | a0001c0002t0001g0143a0001c0002t0001g0144a0001c0002t0001g0147others(11): Show | 14 | HG00099.hp2 HG01081.hp2 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.-39+425C>T | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991819 | ||||||
| chr1:5991863
|
G | C | 49 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(46): Show | 49 | HG00099.hp1 HG00544.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.-39+381C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991863 | ||||||
| chr1:5991921
|
C | CCAGGCGG | 22 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(19): Show | 22 | HG00544.hp2 HG00609.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.-39+322_-39+323ins others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991921 | ||||||
| chr1:5991921
|
C | CCAGGGGG | 15 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(12): Show | 15 | HG00140.hp1 HG00280.hp2 HG01358.hp1 others(12): Show |
intron_variant | MODIFIER | c.-39+316_-39+322dup others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991921 | ||||||
| chr1:5991921
|
C | CCAGGGGG others(7): Show |
3 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005 | 3 | HG02615.hp2 HG02809.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.-39+309_-39+322dup others(14): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991921 | ||||||
| chr1:5991921
|
CCAGGGGG | C | 108 | a0001c0001t0001g0101a0001c0002t0001g0106a0001c0002t0001g0107others(105): Show | 109 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.-39+316_-39+322del others(7): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5991921 | ||||||
| chr1:5992014
|
C | CCCA | 108 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0002t0001g0108others(105): Show | 109 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.-39+227_-39+229dup others(3): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5992014 | ||||||
| chr1:5992031
|
G | C | 49 | a0001c0002t0001g0159a0001c0002t0001g0160a0001c0002t0001g0161others(46): Show | 49 | HG00099.hp1 HG00544.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.-39+213C>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5992031 | ||||||
| chr1:5992060
|
AGCCCCCG others(6): Show |
A | 2 | a0001c0002t0001g0201a0013c0021t0001g0202 | 2 | HG02155.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-39+171_-39+183del others(13): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5992060 | ||||||
| chr1:5992103
|
C | G | 1 | a0007c0028t0004g0002 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-39+141G>C | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5992103 | ||||||
| chr1:5992220
|
T | C | 3 | a0001c0003t0002g0203a0001c0003t0002g0204a0007c0026t0004g0205 | 3 | HG02280.hp2 HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-39+24A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/29 | chr1 | 5992220 |