Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | 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 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0002 | 0/0 | 1426 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0003 | 0/0 | 1426 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0004 | 0/0 | 1426 | 3 | 0 | 0 | 3 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0005 | 0/0 | 1426 | 3 | 0 | 1 | 0 | 0 | 2 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0006 | 0/0 | 1426 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0007 | 0/0 | 1426 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0008 | 0/0 | 1426 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0009 | 0/0 | 1426 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0010 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0011 | 0/0 | 1426 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0012 | 0/0 | 1426 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0013 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0014 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0015 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0016 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| a0017 | 0/0 | 1426 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | MNDWH others(1421): Show |
chr1 | 5857811 | 5997425 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 4278 | 63 | 13 | 15 | 21 | 2 | 12 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0002 | 0/0 | 4278 | 40 | 4 | 12 | 11 | 4 | 9 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0003 | 0/0 | 4278 | 31 | 16 | 4 | 3 | 1 | 7 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0004 | 0/0 | 4278 | 17 | 1 | 7 | 8 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0005 | 0/0 | 4278 | 11 | 11 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0008 | 0/0 | 4278 | 3 | 0 | 2 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0011 | 0/0 | 4278 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0015 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0017 | 0/0 | 4278 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0023 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0024 | 0/0 | 4278 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0025 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0029 | 0/0 | 4278 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0033 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0034 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0001c0036 | 0/0 | 4278 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0002c0006 | 0/0 | 4278 | 6 | 6 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0002c0031 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0002c0032 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0003c0007 | 0/0 | 4278 | 4 | 4 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0004c0010 | 0/0 | 4278 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0004c0018 | 0/0 | 4278 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0005c0009 | 0/0 | 4278 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0005c0016 | 0/0 | 4278 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0006c0026 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0006c0028 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0007c0012 | 0/0 | 4278 | 2 | 0 | 0 | 0 | 0 | 2 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0008c0027 | 0/0 | 4278 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0009c0014 | 0/0 | 4278 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0010c0030 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0011c0035 | 0/0 | 4278 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0012c0013 | 0/0 | 4278 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0013c0021 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0014c0022 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0015c0020 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0016c0037 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
chr1 | 5857811 | 5997425 | ||
| a0017c0019 | 0/0 | 4278 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | ATGAA others(4273): Show |
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 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0002t0001 | 0/0 | 4955 | 40 | 4 | 12 | 11 | 4 | 9 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0003t0001 | 0/0 | 4955 | 28 | 13 | 4 | 3 | 1 | 7 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0003t0002 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0004t0001 | 0/0 | 4955 | 17 | 1 | 7 | 8 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0005t0001 | 0/0 | 4955 | 11 | 11 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0008t0001 | 0/0 | 4955 | 3 | 0 | 2 | 0 | 1 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0011t0001 | 0/0 | 4955 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0015t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0017t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0023t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0024t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0025t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0029t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0033t0003 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0034t0006 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0001c0036t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0002c0006t0001 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0002c0006t0002 | 0/0 | 4955 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0002c0031t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0002c0032t0002 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0003c0007t0003 | 0/0 | 4955 | 4 | 4 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0004c0010t0001 | 0/0 | 4955 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0004c0018t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0005c0009t0001 | 0/0 | 4955 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0005c0016t0001 | 0/0 | 4955 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0006c0026t0004 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0006c0028t0004 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0007c0012t0001 | 0/0 | 4955 | 2 | 0 | 0 | 0 | 0 | 2 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0008c0027t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0009c0014t0001 | 0/0 | 4955 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0010c0030t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0011c0035t0001 | 0/0 | 4955 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0012c0013t0001 | 0/0 | 4955 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0013c0021t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0014c0022t0005 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0015c0020t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0016c0037t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| a0017c0019t0001 | 0/0 | 4955 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | CTTCC others(4950): Show |
chr1 | 5857811 | 5997425 |
| actghapid | grch38/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 |
| a0004c0010t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0004c0010t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0004c0018t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0009t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0009t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0005c0016t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0006c0026t0004g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0006c0028t0004g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0007c0012t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0007c0012t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0008c0027t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0009c0014t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0010c0030t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0011c0035t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0012c0013t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 |
| a0014c0022t0005g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0015c0020t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0016c0037t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| a0017c0019t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 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 | a0004 | 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 | a0005 | 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 | a0008 | c0027 | t0001 | g0071 | AMR | CLM | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG01346 | hp2 | a0009 | 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 | a0010 | c0030 | t0001 | g0138 | AFR | ACB | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02056 | hp1 | a0004 | 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 | a0011 | 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 | a0006 | 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 | a0005 | c0016 | t0001 | g0184 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG02602 | hp2 | a0012 | 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 | a0005 | 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 | a0007 | c0012 | t0001 | g0023 | SAS | PJL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03239 | hp2 | a0007 | 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 | a0014 | c0022 | t0005 | g0207 | AFR | MSL | NPHP4_chr1_5857811_5997425 | NPHP4 | chr1 | 5857811 | 5997425 |
| HG03486 | hp1 | a0006 | 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 | a0015 | 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 | a0004 | 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 | a0016 | 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 | a0017 | 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 |
| view | 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 | a0017 | 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 | a0015 | 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 | a0014 | 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 | a0006 | 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 | a0008 | 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 | a0010 | 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 | a0005 | 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 | a0004 | 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 | a0002 a0010 |
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 | a0009 | 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 | a0011 | 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 | a0007 | 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 | a0012 | 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 | a0016 | 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 | a0001 a0014 |
2 | HG03209.hp1 HG03453.hp2 |
splice_region_variant | LOW | c.-40A>G | NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 1/30 | chr1 | 5992245 |
| view | 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 | a0005c0016 | 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 | a0001c0002 a0001c0004 a0001c0008 others(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 | a0001c0033 a0003c0007 |
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 | a0001c0001 a0001c0011 a0001c0015 others(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 | a0001c0005 a0002c0031 a0013c0021 others(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 | a0001c0004 a0001c0017 a0005c0009 others(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 | a0006c0028 | 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 | a0001c0004 a0001c0017 a0005c0009 others(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 | a0001c0033 a0001c0034 a0003c0007 |
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 | a0012c0013 | 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 |
| view | 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 | a0001c0003t0002 a0002c0006t0002 a0002c0032t0002 others(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 | a0001c0033t0003 a0003c0007t0003 |
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 | a0006c0026t0004 a0006c0028t0004 |
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 |
| view | 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 | a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0002t0001g0043 others(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 | a0001c0002t0001g0090 a0008c0027t0001g0071 a0010c0030t0001g0138 |
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 | a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0102 a0001c0003t0001g0139 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0106 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0054 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0106 others(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 | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0091 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0106 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0090 a0008c0027t0001g0071 a0010c0030t0001g0138 |
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 | a0001c0001t0001g0072 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0002t0001g0090 a0008c0027t0001g0071 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0005t0001g0163 a0001c0005t0001g0166 |
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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0003t0001g0045 others(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 | a0004c0018t0001g0122 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0006c0026t0004g0205 | 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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0033 a0001c0004t0001g0044 a0001c0004t0001g0058 others(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 | a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0016c0037t0001g0006 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0052 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0020 a0001c0001t0001g0078 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0052 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0066 |
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 | a0001c0002t0001g0106 a0001c0023t0001g0062 |
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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0066 a0007c0012t0001g0023 |
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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0005t0001g0172 a0002c0031t0001g0137 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0102 a0001c0003t0001g0139 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0106 others(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 | a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
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 | a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0002t0001g0043 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0002t0001g0043 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0003t0001g0045 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0053 others(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 | a0008c0027t0001g0071 | 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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0047 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 others(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 | a0001c0001t0001g0087 a0001c0002t0001g0043 a0001c0002t0001g0090 others(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 | a0005c0016t0001g0184 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(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 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0029 others(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 | a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0117 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 others(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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0004t0001g0044 others(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 | a0001c0003t0001g0067 a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0074 a0001c0002t0001g0159 a0001c0002t0001g0160 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0010c0030t0001g0138 | 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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0034t0006g0206 a0010c0030t0001g0138 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0046 a0001c0005t0001g0165 |
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 | a0010c0030t0001g0138 | 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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0007c0012t0001g0069 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0127 others(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 | a0010c0030t0001g0138 | 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 | a0005c0016t0001g0184 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0052 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0080 others(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 | a0001c0003t0001g0133 a0001c0003t0001g0142 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0010c0030t0001g0138 | 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 | a0005c0009t0001g0186 a0005c0009t0001g0192 a0005c0016t0001g0184 |
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 | a0001c0003t0001g0057 a0001c0004t0001g0044 a0001c0004t0001g0058 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0001t0001g0009 a0001c0004t0001g0044 a0001c0004t0001g0058 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0011c0035t0001g0105 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 |
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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0087 a0001c0001t0001g0099 |
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 | a0001c0003t0001g0067 a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0011c0035t0001g0105 | 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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0016 a0001c0025t0001g0079 |
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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0003t0002g0157 a0014c0022t0005g0207 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0004t0001g0044 a0001c0004t0001g0178 a0001c0004t0001g0181 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0036t0001g0040 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0004c0010t0001g0121 | 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 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
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 | a0010c0030t0001g0138 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0005c0009t0001g0186 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0067 a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0119 a0010c0030t0001g0138 |
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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0108 a0001c0003t0001g0119 a0010c0030t0001g0138 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0092 a0001c0002t0001g0106 |
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 | a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0002t0001g0090 a0001c0003t0001g0021 a0001c0003t0001g0052 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0036t0001g0040 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0004c0018t0001g0122 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0006c0028t0004g0002 | 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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0006c0028t0004g0002 | 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 | a0001c0001t0001g0026 a0001c0003t0001g0021 a0001c0003t0001g0053 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0011c0035t0001g0105 | 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 | a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0002g0157 a0014c0022t0005g0207 |
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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0006c0026t0004g0205 |
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 | a0005c0009t0001g0192 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0008t0001g0146 a0001c0008t0001g0152 a0001c0008t0001g0153 |
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 | a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0003t0001g0067 a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0164 a0001c0005t0001g0165 others(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 | a0001c0001t0001g0077 a0001c0033t0003g0019 a0003c0007t0003g0001 others(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 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0004t0001g0044 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
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 | a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0128 others(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 | a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0067 a0001c0034t0006g0206 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 |
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 | a0012c0013t0001g0042 | 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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0014c0022t0005g0207 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0004t0001g0044 a0001c0004t0001g0158 a0001c0004t0001g0174 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0003t0001g0046 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0010c0030t0001g0138 | 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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0055 a0001c0003t0001g0059 a0001c0003t0001g0063 |
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 | a0001c0005t0001g0164 a0001c0005t0001g0165 |
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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0007c0012t0001g0023 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0199 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0014c0022t0005g0207 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0001c0033t0003g0019 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(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 | a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0089 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0080 a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(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 | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0048 others(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 | a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0037 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(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 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0014c0022t0005g0207 | 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 | a0010c0030t0001g0138 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 others(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 | a0001c0005t0001g0167 a0001c0005t0001g0173 |
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 | a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 others(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 | a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 others(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 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0109 a0001c0002t0001g0110 others(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 | a0004c0010t0001g0120 a0004c0010t0001g0121 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0014c0022t0005g0207 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0001c0001t0001g0038 a0001c0011t0001g0032 a0012c0013t0001g0042 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0091 others(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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0034t0006g0206 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0014c0022t0005g0207 | 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 | a0010c0030t0001g0138 | 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 | a0006c0026t0004g0205 | 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 | a0014c0022t0005g0207 | 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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0003t0001g0046 a0001c0034t0006g0206 a0002c0006t0001g0134 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0118 a0001c0003t0001g0055 a0001c0003t0001g0059 others(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 | a0001c0001t0001g0031 a0002c0006t0001g0134 a0002c0006t0001g0135 others(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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0010c0030t0001g0138 a0014c0022t0005g0207 |
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 | a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0012c0013t0001g0042 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0089 |
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 | a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0055 a0001c0003t0001g0063 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0004t0001g0174 a0001c0004t0001g0182 a0001c0004t0001g0183 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0010c0030t0001g0138 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0004 a0001c0001t0001g0010 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0014c0022t0005g0207 | 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 | a0010c0030t0001g0138 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0029 a0001c0002t0001g0159 a0001c0002t0001g0160 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0084 a0001c0001t0001g0097 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0110 a0001c0002t0001g0117 a0001c0002t0001g0127 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0052 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0002c0006t0001g0134 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0095 a0001c0002t0001g0125 a0001c0002t0001g0159 others(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 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0007c0012t0001g0023 | 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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0004t0001g0044 a0001c0004t0001g0178 a0001c0004t0001g0181 others(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 | a0017c0019t0001g0176 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0158 a0001c0004t0001g0174 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0074 a0001c0001t0001g0082 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0034t0006g0206 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0074 a0001c0001t0001g0082 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0053 a0001c0003t0001g0055 others(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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0011 a0001c0001t0001g0089 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0005t0001g0164 a0001c0005t0001g0165 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0006c0028t0004g0002 | 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 | a0001c0005t0001g0169 a0001c0005t0001g0171 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0031 others(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 | a0001c0033t0003g0019 a0002c0006t0002g0195 a0002c0006t0002g0197 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0006c0026t0004g0205 a0006c0028t0004g0002 |
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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0049 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(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 | a0001c0001t0001g0085 a0001c0002t0001g0159 a0001c0002t0001g0160 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0158 a0001c0004t0001g0174 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0074 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0004c0010t0001g0120 a0004c0010t0001g0121 |
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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0006c0028t0004g0002 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0006c0028t0004g0002 | 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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0084 a0001c0002t0001g0155 a0001c0002t0001g0159 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0004c0010t0001g0120 | 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 | a0014c0022t0005g0207 | 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 | a0001c0004t0001g0174 a0001c0004t0001g0182 a0001c0004t0001g0183 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 |
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 | a0001c0001t0001g0011 a0001c0001t0001g0089 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0034t0006g0206 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0006c0026t0004g0205 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0004t0001g0177 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0012c0013t0001g0042 | 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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0003t0002g0157 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0113 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0204 a0001c0004t0001g0177 others(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 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0010 a0001c0003t0001g0021 a0001c0003t0001g0052 others(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 | a0001c0003t0001g0066 a0017c0019t0001g0176 |
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 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0003t0001g0054 others(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 | a0001c0003t0001g0193 a0001c0003t0001g0199 a0001c0003t0001g0200 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0004t0001g0174 others(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 | a0001c0001t0001g0005 a0001c0002t0001g0175 a0001c0004t0001g0044 |
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 | a0001c0004t0001g0178 a0001c0004t0001g0189 a0005c0009t0001g0186 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0007c0012t0001g0023 a0007c0012t0001g0069 |
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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0005c0009t0001g0192 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0012c0013t0001g0042 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0010c0030t0001g0138 | 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 | a0012c0013t0001g0042 | 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 | a0002c0006t0002g0195 a0002c0006t0002g0197 a0002c0006t0002g0198 others(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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0001g0072 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0014c0022t0005g0207 | 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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0123 a0001c0002t0001g0130 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0013 a0001c0002t0001g0159 a0001c0002t0001g0160 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0090 a0001c0002t0001g0106 others(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 | a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 others(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 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0005c0009t0001g0192 a0005c0016t0001g0184 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0160 a0001c0002t0001g0161 a0006c0028t0004g0002 |
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 | a0015c0020t0001g0168 | 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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0003t0002g0157 others(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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0031 a0011c0035t0001g0105 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0084 a0001c0001t0001g0097 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0140 |
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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0028 a0001c0002t0001g0159 a0001c0002t0001g0160 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0003t0001g0063 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0027 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0014c0022t0005g0207 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0139 a0001c0003t0001g0142 |
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 | a0010c0030t0001g0138 | 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 | a0010c0030t0001g0138 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0010c0030t0001g0138 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0001g0072 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0002t0001g0125 a0001c0002t0001g0159 a0001c0003t0001g0021 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0004c0010t0001g0120 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0089 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0054 |
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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0083 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 others(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 | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0029 others(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 | a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0086 others(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 | a0001c0001t0001g0005 a0001c0001t0001g0031 a0010c0030t0001g0138 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(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 | a0017c0019t0001g0176 | 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 | a0001c0004t0001g0178 a0001c0004t0001g0194 |
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 | a0006c0028t0004g0002 | 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 | a0005c0009t0001g0192 | 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 | a0005c0016t0001g0184 | 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 | a0005c0009t0001g0186 | 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 | a0006c0026t0004g0205 | 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 | a0001c0005t0001g0170 a0001c0005t0001g0171 a0013c0021t0001g0202 |
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 | a0001c0003t0002g0204 a0001c0004t0001g0177 |
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 | a0015c0020t0001g0168 | 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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0068 |
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 | a0001c0003t0001g0056 a0001c0003t0001g0060 a0001c0004t0001g0058 |
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 | a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 others(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 | a0001c0003t0001g0046 a0007c0012t0001g0069 |
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 | a0001c0003t0001g0055 a0001c0003t0001g0059 a0001c0003t0001g0063 |
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 | a0001c0004t0001g0187 a0001c0004t0001g0190 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0107 a0001c0002t0001g0113 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0006c0028t0004g0002 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0006c0028t0004g0002 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0004c0010t0001g0120 a0004c0010t0001g0121 |
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 | a0014c0022t0005g0207 | 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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0091 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0006c0026t0004g0205 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0008c0027t0001g0071 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0006c0026t0004g0205 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0085 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0002c0006t0001g0134 others(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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0028 a0001c0002t0001g0117 a0001c0002t0001g0127 others(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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0007c0012t0001g0069 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0003t0001g0052 a0001c0003t0001g0065 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0001t0001g0010 a0001c0001t0001g0084 a0001c0001t0001g0096 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0010c0030t0001g0138 | 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 | a0014c0022t0005g0207 | 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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0007c0012t0001g0023 | 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 | a0007c0012t0001g0023 | 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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0099 a0001c0005t0001g0171 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0143 a0001c0024t0001g0039 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0006c0028t0004g0002 | 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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0011t0001g0032 others(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 | a0001c0001t0001g0080 a0001c0002t0001g0143 |
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 | a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0065 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0017c0019t0001g0176 | 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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0004c0010t0001g0120 a0004c0010t0001g0121 a0004c0018t0001g0122 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0003t0002g0157 others(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 | a0005c0009t0001g0192 | 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 | a0001c0001t0001g0070 a0001c0002t0001g0130 a0001c0002t0001g0132 others(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 | a0002c0006t0002g0197 a0002c0006t0002g0198 |
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 | a0015c0020t0001g0168 | 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 | a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 |
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 | a0001c0005t0001g0172 a0001c0005t0001g0173 |
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 | a0004c0010t0001g0120 | 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 | a0004c0018t0001g0122 | 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 | a0004c0010t0001g0121 | 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 | a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0008t0001g0152 |
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 | a0009c0014t0001g0145 | 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 | a0011c0035t0001g0105 | 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 | a0001c0002t0001g0126 a0001c0002t0001g0148 a0001c0002t0001g0149 others(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 | a0008c0027t0001g0071 | 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 | a0016c0037t0001g0006 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0010 |
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 | a0007c0012t0001g0023 | 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 | a0007c0012t0001g0069 | 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 | a0012c0013t0001g0042 | 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 | a0006c0028t0004g0002 | 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 | a0010c0030t0001g0138 | 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 | a0001c0004t0001g0044 a0001c0004t0001g0191 |
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 | a0005c0016t0001g0184 | 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 | a0001c0004t0001g0189 a0001c0004t0001g0190 |
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 | a0001c0004t0001g0182 a0001c0004t0001g0183 a0017c0019t0001g0176 |
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 | a0005c0009t0001g0186 | 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 | a0006c0026t0004g0205 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0070 others(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 | a0014c0022t0005g0207 | 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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0143 a0016c0037t0001g0006 |
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 | a0016c0037t0001g0006 | 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 | a0016c0037t0001g0006 | 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 | a0016c0037t0001g0006 | 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 | a0016c0037t0001g0006 | 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 | a0016c0037t0001g0006 | 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 | a0001c0024t0001g0039 a0016c0037t0001g0006 |
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 | a0001c0003t0001g0054 a0001c0029t0001g0073 a0005c0009t0001g0192 |
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 | a0016c0037t0001g0006 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0003t0001g0021 |
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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0017c0019t0001g0176 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0041 a0007c0012t0001g0023 |
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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0001t0001g0091 a0001c0002t0001g0090 |
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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0010c0030t0001g0138 | 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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0006c0026t0004g0205 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0008c0027t0001g0071 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0100 a0001c0004t0001g0191 |
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 | a0001c0003t0001g0133 a0010c0030t0001g0138 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 |
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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0003t0001g0045 others(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 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 others(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 | a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0005c0009t0001g0192 | 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 | a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0053 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0017c0019t0001g0176 | 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 | a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0017c0019t0001g0176 | 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 | a0001c0002t0001g0175 a0001c0004t0001g0174 |
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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 a0014c0022t0005g0207 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0007c0012t0001g0069 | 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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0014c0022t0005g0207 | 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 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
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 | a0014c0022t0005g0207 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0033t0003g0019 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0014c0022t0005g0207 | 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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0016c0037t0001g0006 |
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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0175 a0001c0003t0001g0193 a0001c0004t0001g0044 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0034t0006g0206 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0003t0001g0199 a0001c0003t0001g0200 |
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 | a0001c0002t0001g0043 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0012c0013t0001g0042 | 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 | a0011c0035t0001g0105 | 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 | a0001c0034t0006g0206 a0014c0022t0005g0207 |
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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0003c0007t0003g0001 a0003c0007t0003g0103 a0003c0007t0003g0104 |
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 | a0001c0003t0002g0157 a0003c0007t0003g0001 a0003c0007t0003g0103 others(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 | a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 |
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 | a0001c0001t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0107 others(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 | a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 others(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 | a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 others(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 | a0001c0002t0001g0201 a0013c0021t0001g0202 |
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 | a0006c0028t0004g0002 | 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 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0006c0026t0004g0205 |
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 |