Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 51265 |
| ensemblid | ENSG00000006837.12 |
| hgncid | 15483 |
| symbol | CDKL3 |
| name | cyclin dependent kinase like 3 |
| refseq_nuc | NM_001113575.2 |
| refseq_prot | NP_001107047.1 |
| ensembl_nuc | ENST00000265334.9 |
| ensembl_prot | ENSP00000265334.4 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 134298424 |
| end | 134367171 |
| strand | - |
| ver | v1.2 |
| region | chr5:134298424-134367171 |
| region5000 | chr5:134293424-134372171 |
| regionname0 | CDKL3_chr5_134298424_134367171 |
| regionname5000 | CDKL3_chr5_134293424_134372171 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 592 | 206 | 76 | 51 | 49 | 11 | 17 | 33 | CDKL3_chr5_134293424_134372171 | CDKL3 | MEMYE others(587): Show |
chr5 | 134293424 | 134372171 |
| a0002 | 0/0 | 592 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | MEMYE others(587): Show |
chr5 | 134293424 | 134372171 |
| a0003 | 0/0 | 592 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | MEMYE others(587): Show |
chr5 | 134293424 | 134372171 |
| a0004 | 0/0 | 592 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | MEMYE others(587): Show |
chr5 | 134293424 | 134372171 |
| a0005 | 0/0 | 592 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | MEMYE others(587): Show |
chr5 | 134293424 | 134372171 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1776 | 201 | 73 | 49 | 49 | 11 | 17 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0001c0002 | 0/0 | 1776 | 4 | 3 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0001c0003 | 0/0 | 1776 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0002c0004 | 0/0 | 1776 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0003c0006 | 0/0 | 1776 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0004c0005 | 0/0 | 1776 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 | ||
| a0005c0007 | 0/0 | 1776 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | ATGGA others(1771): Show |
chr5 | 134293424 | 134372171 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2222 | 187 | 59 | 49 | 49 | 11 | 17 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0001c0001t0002 | 0/0 | 2222 | 7 | 7 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0001c0001t0003 | 0/0 | 2222 | 7 | 7 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0001c0002t0001 | 0/0 | 2222 | 4 | 3 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0001c0003t0001 | 0/0 | 2222 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0002c0004t0001 | 0/0 | 2222 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0003c0006t0001 | 0/0 | 2222 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0004c0005t0001 | 0/0 | 2222 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| a0005c0007t0001 | 0/0 | 2222 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | AGAAC others(2217): Show |
chr5 | 134293424 | 134372171 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0053 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0109 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0001t0003g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0002t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0002t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0002t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0001c0003t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0002c0004t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0003c0006t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0004c0005t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| a0005c0007t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0123 | EUR | GBR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0162 | EUR | GBR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0108 | EUR | GBR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0189 | EUR | GBR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0050 | EUR | FIN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00280 | hp2 | a0002 | c0004 | t0001 | g0142 | EUR | FIN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0004 | EUR | FIN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0044 | EUR | FIN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | CHS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0072 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0066 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0110 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01109 | hp1 | a0003 | c0006 | t0001 | g0020 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0069 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0079 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0185 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0128 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0023 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01496 | hp1 | a0001 | c0002 | t0001 | g0012 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0065 | EUR | IBS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0061 | EUR | IBS | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0174 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0048 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0088 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG01993 | hp2 | a0001 | c0003 | t0001 | g0114 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0055 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CDX | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | CDX | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0163 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0187 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0178 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0074 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02451 | hp1 | a0001 | c0001 | t0003 | g0203 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02451 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | KHV | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0077 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0085 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0191 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02602 | hp2 | a0004 | c0005 | t0001 | g0126 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0193 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0106 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02647 | hp2 | a0001 | c0001 | t0003 | g0199 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0064 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0058 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0197 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02809 | hp1 | a0001 | c0001 | t0003 | g0201 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0169 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0141 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0168 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0098 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0202 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02922 | hp2 | a0001 | c0002 | t0001 | g0013 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0054 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0097 | AFR | GWD | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03098 | hp1 | a0001 | c0002 | t0001 | g0011 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0076 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03139 | hp1 | a0001 | c0001 | t0003 | g0007 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0032 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0104 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0165 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03453 | hp1 | a0001 | c0001 | t0003 | g0007 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0186 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0135 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0164 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03516 | hp1 | a0001 | c0001 | t0003 | g0200 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0124 | AFR | ESN | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0089 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0071 | SAS | PJL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | BEB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0102 | SAS | BEB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0042 | SAS | BEB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0103 | SAS | BEB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0008 | SAS | STU | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0151 | SAS | STU | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18522 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | CHB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | CHB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0070 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18986 | hp2 | a0005 | c0007 | t0001 | g0198 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0195 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0056 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19086 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0057 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0172 | AFR | YRI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ASW | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0120 | AFR | ASW | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0107 | EUR | TSI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0063 | EUR | TSI | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | ACB | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | MSL | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG06807 | hp1 | a0001 | c0001 | t0002 | g0075 | AFR | USA | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0144 | AFR | USA | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | USA | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0134 | AFR | USA | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA21309 | hp1 | a0001 | c0001 | t0002 | g0073 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | LWK | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0053 | REF | REF | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0109 | REF | REF | CDKL3_chr5_134293424_134372171 | CDKL3 | chr5 | 134293424 | 134372171 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:134306635 | T | C | 1 | a0004 | 1 | HG02602.hp2 | missense_variant | MODERATE | c.1432A>G | p.Arg478Gly | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/13 | 1648/2222 | 1432/1779 | 478/592 | chr5 | 134306635 | |||
| chr5:134306637 | C | A | 1 | a0003 | 1 | HG01109.hp1 | missense_variant | MODERATE | c.1430G>T | p.Ser477Ile | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/13 | 1646/2222 | 1430/1779 | 477/592 | chr5 | 134306637 | |||
| chr5:134308615 | C | T | 1 | a0002 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.994G>A | p.Val332Ile | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 8/13 | 1210/2222 | 994/1779 | 332/592 | chr5 | 134308615 | |||
| chr5:134366456 | T | C | 1 | a0005 | 1 | NA18986.hp2 | missense_variant | MODERATE | c.68A>G | p.His23Arg | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/13 | 284/2222 | 68/1779 | 23/592 | chr5 | 134366456 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:134306639 | A | G | 1 | a0001c0002 | 4 | HG01496.hp1 HG02451.hp2 HG02922.hp2 others(1): Show |
synonymous_variant | LOW | c.1428T>C | p.Asn476Asn | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/13 | 1644/2222 | 1428/1779 | 476/592 | chr5 | 134306639 | |||
| chr5:134319376 | C | T | 1 | a0001c0003 | 1 | HG01993.hp2 | synonymous_variant | LOW | c.774G>A | p.Leu258Leu | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/13 | 990/2222 | 774/1779 | 258/592 | chr5 | 134319376 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:134298602 | G | A | 1 | a0001c0001t0002 | 7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*49C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 13/13 | 49 | chr5 | 134298602 | ||||||
| chr5:134367165 | G | A | 1 | a0001c0001t0003 | 7 | HG02451.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-210C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 1/13 | 642 | chr5 | 134367165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:134298883 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1720-173C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134298883 | |||||||
| chr5:134298960 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1720-250C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134298960 | |||||||
| chr5:134299034 | G | A | 5 | a0001c0001t0001g0165 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1720-324C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134299034 | |||||||
| chr5:134299049 | T | G | 1 | a0001c0001t0002g0076 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1720-339A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134299049 | |||||||
| chr5:134299486 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1720-776T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134299486 | |||||||
| chr5:134299621 | T | C | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1720-911A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134299621 | |||||||
| chr5:134299674 | T | C | 1 | a0001c0001t0001g0152 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1720-964A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134299674 | |||||||
| chr5:134300401 | T | C | 1 | a0001c0001t0001g0165 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1720-1691A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300401 | |||||||
| chr5:134300585 | A | G | 1 | a0003c0006t0001g0020 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1720-1875T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300585 | |||||||
| chr5:134300673 | A | G | 1 | a0001c0001t0001g0023 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1719+1917T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300673 | |||||||
| chr5:134300688 | G | C | 1 | a0001c0001t0001g0141 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1719+1902C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300688 | |||||||
| chr5:134300840 | T | C | 13 | a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0174 others(10): Show |
13 | HG00438.hp2 HG00609.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.1719+1750A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300840 | |||||||
| chr5:134300988 | G | A | 1 | a0001c0001t0001g0105 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1719+1602C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134300988 | |||||||
| chr5:134301000 | A | AT | 19 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show |
21 | HG01433.hp2 HG01496.hp1 HG02074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1719+1589dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301000 | |||||||
| chr5:134301050 | C | T | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1719+1540G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301050 | |||||||
| chr5:134301083 | C | T | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1719+1507G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301083 | |||||||
| chr5:134301186 | A | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1719+1404T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301186 | |||||||
| chr5:134301374 | C | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1719+1216G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301374 | |||||||
| chr5:134301411 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1719+1179A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301411 | |||||||
| chr5:134301499 | T | A | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1719+1091A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301499 | |||||||
| chr5:134301583 | TA | T | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.1719+1006delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301583 | |||||||
| chr5:134301705 | C | A | 1 | a0004c0005t0001g0126 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1719+885G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301705 | |||||||
| chr5:134301730 | T | A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1719+860A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301730 | |||||||
| chr5:134301731 | A | T | 1 | a0001c0001t0002g0073 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1719+859T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301731 | |||||||
| chr5:134301866 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1719+724T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301866 | |||||||
| chr5:134301888 | AAAAC | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.1719+698_1719+701d others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134301888 | |||||||
| chr5:134302035 | G | A | 2 | a0001c0001t0001g0132 a0001c0001t0001g0189 |
2 | HG00140.hp2 HG00733.hp1 |
intron_variant | MODIFIER | c.1719+555C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134302035 | |||||||
| chr5:134302266 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1719+324C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134302266 | |||||||
| chr5:134302343 | C | A | 7 | a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0128 others(4): Show |
7 | HG00733.hp2 HG01257.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1719+247G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134302343 | |||||||
| chr5:134302465 | T | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.1719+125A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 12/12 | chr5 | 134302465 | |||||||
| chr5:134302727 | C | G | 3 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 |
3 | HG02258.hp2 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1622-40G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134302727 | |||||||
| chr5:134303087 | G | A | 1 | a0001c0001t0001g0032 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1622-400C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303087 | |||||||
| chr5:134303092 | T | C | 1 | a0001c0001t0001g0190 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1622-405A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303092 | |||||||
| chr5:134303178 | G | A | 1 | a0002c0004t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1622-491C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303178 | |||||||
| chr5:134303225 | G | A | 1 | a0001c0001t0001g0171 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1622-538C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303225 | |||||||
| chr5:134303227 | G | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1622-540C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303227 | |||||||
| chr5:134303255 | C | G | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1622-568G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303255 | |||||||
| chr5:134303554 | T | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0033 others(4): Show |
7 | NA18947.hp1 NA18951.hp1 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.1621+851A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303554 | |||||||
| chr5:134303575 | GGC | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.1621+828_1621+829d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303575 | |||||||
| chr5:134303619 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1621+786C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303619 | |||||||
| chr5:134303620 | G | A | 1 | a0001c0001t0001g0005 | 2 | HG01358.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.1621+785C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303620 | |||||||
| chr5:134303668 | A | AC | 15 | a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0110 others(12): Show |
16 | HG01099.hp1 HG01993.hp2 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.1621+736dupG | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303668 | |||||||
| chr5:134303668 | ACC | A | 67 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(64): Show |
70 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(67): Show |
intron_variant | MODIFIER | c.1621+735_1621+736d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303668 | |||||||
| chr5:134303676 | C | A | 1 | a0001c0001t0001g0048 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1621+729G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303676 | |||||||
| chr5:134303676 | C | G | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1621+729G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303676 | |||||||
| chr5:134303677 | C | G | 1 | a0001c0001t0001g0185 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1621+728G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303677 | |||||||
| chr5:134303937 | A | AT | 63 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(60): Show |
66 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.1621+467dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134303937 | |||||||
| chr5:134304098 | AT | A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1621+306delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 11/12 | chr5 | 134304098 | |||||||
| chr5:134304671 | A | T | 1 | a0001c0001t0002g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1459-104T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304671 | |||||||
| chr5:134304686 | TAAG | T | 2 | a0001c0001t0001g0128 a0001c0001t0001g0137 |
2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.1459-122_1459-120d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304686 | |||||||
| chr5:134304728 | T | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-161A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304728 | |||||||
| chr5:134304757 | A | T | 1 | a0001c0001t0001g0001 | 2 | NA18984.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.1459-190T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304757 | |||||||
| chr5:134304812 | C | CAAT | 53 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(50): Show |
55 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(52): Show |
intron_variant | MODIFIER | c.1459-248_1459-246d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304812 | |||||||
| chr5:134304812 | C | CAATAAT | 7 | a0001c0001t0001g0022 a0001c0001t0001g0194 a0001c0001t0002g0073 others(4): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.1459-251_1459-246d others(8): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304812 | |||||||
| chr5:134304832 | A | ATAATAT | 3 | a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0002g0003 |
4 | HG02615.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1459-266_1459-265i others(8): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304832 | |||||||
| chr5:134304832 | A | ATAT | 5 | a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show |
5 | HG02055.hp1 HG02717.hp1 NA18993.hp2 others(2): Show |
intron_variant | MODIFIER | c.1459-268_1459-266d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304832 | |||||||
| chr5:134304832 | A | T | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1459-265T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304832 | |||||||
| chr5:134304832 | ATAT | A | 5 | a0001c0001t0001g0006 a0001c0001t0001g0151 a0001c0001t0001g0167 others(2): Show |
6 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1459-268_1459-266d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304832 | |||||||
| chr5:134304835 | T | A | 33 | a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0081 others(30): Show |
34 | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(31): Show |
intron_variant | MODIFIER | c.1459-268A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304835 | |||||||
| chr5:134304838 | T | A | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1459-271A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304838 | |||||||
| chr5:134304973 | A | C | 2 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | HG02622.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1459-406T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134304973 | |||||||
| chr5:134305107 | C | CTTA | 3 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0192 |
3 | HG02280.hp2 HG02970.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1459-543_1459-541d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134305107 | |||||||
| chr5:134305590 | C | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.1458+1019G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134305590 | |||||||
| chr5:134306164 | A | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.1458+445T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134306164 | |||||||
| chr5:134306452 | G | A | 10 | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0080 others(7): Show |
10 | HG00642.hp2 HG01109.hp2 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.1458+157C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134306452 | |||||||
| chr5:134306475 | C | A | 2 | a0001c0001t0001g0102 a0001c0001t0001g0117 |
2 | HG02523.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1458+134G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134306475 | |||||||
| chr5:134306596 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
2 | HG01993.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.1458+13G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 10/12 | chr5 | 134306596 | |||||||
| chr5:134306750 | C | CT | 79 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(76): Show |
82 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(79): Show |
intron_variant | MODIFIER | c.1365-49dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134306750 | |||||||
| chr5:134306750 | C | CTT | 49 | a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0068 others(46): Show |
50 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.1365-50_1365-49dup others(2): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134306750 | |||||||
| chr5:134306750 | CT | C | 37 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(34): Show |
38 | HG00280.hp1 HG00741.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1365-49delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134306750 | |||||||
| chr5:134306750 | CTT | C | 16 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0044 others(13): Show |
18 | HG00323.hp2 HG01257.hp2 HG01258.hp2 others(15): Show |
intron_variant | MODIFIER | c.1365-50_1365-49del others(2): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134306750 | |||||||
| chr5:134306750 | CTTTTTTT others(3): Show |
C | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1365-58_1365-49del others(10): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134306750 | |||||||
| chr5:134307097 | T | A | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.1365-395A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134307097 | |||||||
| chr5:134307406 | T | G | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1365-704A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134307406 | |||||||
| chr5:134307516 | G | C | 1 | a0001c0001t0001g0146 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1364+622C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134307516 | |||||||
| chr5:134308055 | A | G | 6 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show |
6 | HG01175.hp1 HG01515.hp2 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.1364+83T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 9/12 | chr5 | 134308055 | |||||||
| chr5:134308780 | T | C | 1 | a0001c0001t0001g0141 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.882-53A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134308780 | |||||||
| chr5:134308843 | C | T | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.882-116G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134308843 | |||||||
| chr5:134309363 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.882-636C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134309363 | |||||||
| chr5:134309389 | C | T | 42 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(39): Show |
44 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.882-662G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134309389 | |||||||
| chr5:134309791 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.882-1064C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134309791 | |||||||
| chr5:134309933 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.882-1206C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134309933 | |||||||
| chr5:134310161 | CATTTT | C | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.882-1439_882-1435d others(7): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310161 | |||||||
| chr5:134310286 | C | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.882-1559G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310286 | |||||||
| chr5:134310422 | C | T | 8 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 others(5): Show |
8 | HG01099.hp1 HG02559.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.882-1695G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310422 | |||||||
| chr5:134310600 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.881+1692C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310600 | |||||||
| chr5:134310651 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.881+1641T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310651 | |||||||
| chr5:134310663 | T | G | 2 | a0001c0001t0001g0123 a0001c0001t0001g0156 |
2 | HG00099.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.881+1629A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310663 | |||||||
| chr5:134310877 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.881+1415G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310877 | |||||||
| chr5:134310989 | G | C | 1 | a0001c0001t0001g0177 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.881+1303C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134310989 | |||||||
| chr5:134311338 | C | G | 1 | a0001c0001t0001g0034 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.881+954G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134311338 | |||||||
| chr5:134311366 | G | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(47): Show |
52 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.881+926C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134311366 | |||||||
| chr5:134311489 | A | G | 97 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(94): Show |
102 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(99): Show |
intron_variant | MODIFIER | c.881+803T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134311489 | |||||||
| chr5:134311826 | A | G | 1 | a0001c0001t0001g0057 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.881+466T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134311826 | |||||||
| chr5:134311929 | G | C | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.881+363C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134311929 | |||||||
| chr5:134312054 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.881+238C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134312054 | |||||||
| chr5:134312113 | T | C | 1 | a0001c0001t0001g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.881+179A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134312113 | |||||||
| chr5:134312211 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.881+81G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134312211 | |||||||
| chr5:134312235 | T | C | 5 | a0001c0001t0002g0003 a0001c0001t0002g0074 a0001c0001t0002g0075 others(2): Show |
6 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.881+57A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134312235 | |||||||
| chr5:134312269 | C | T | 1 | a0001c0001t0003g0202 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.881+23G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 7/12 | chr5 | 134312269 | |||||||
| chr5:134312550 | T | C | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.793-170A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134312550 | |||||||
| chr5:134312583 | T | A | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.793-203A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134312583 | |||||||
| chr5:134313255 | C | T | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.793-875G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134313255 | |||||||
| chr5:134313746 | GT | G | 97 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(94): Show |
102 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(99): Show |
intron_variant | MODIFIER | c.793-1367delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134313746 | |||||||
| chr5:134313748 | T | G | 63 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(60): Show |
66 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.793-1368A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134313748 | |||||||
| chr5:134314002 | G | A | 3 | a0001c0001t0002g0003 a0001c0001t0002g0075 a0001c0001t0002g0077 |
4 | HG02572.hp1 HG06807.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.793-1622C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314002 | |||||||
| chr5:134314047 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.793-1667C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314047 | |||||||
| chr5:134314049 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.793-1669G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314049 | |||||||
| chr5:134314141 | G | A | 1 | a0001c0001t0001g0119 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.793-1761C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314141 | |||||||
| chr5:134314538 | G | A | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.793-2158C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314538 | |||||||
| chr5:134314721 | C | A | 72 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(69): Show |
76 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.793-2341G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314721 | |||||||
| chr5:134314765 | G | C | 11 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 others(8): Show |
11 | HG01099.hp1 HG01243.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.793-2385C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314765 | |||||||
| chr5:134314884 | G | A | 2 | a0001c0001t0001g0133 a0004c0005t0001g0126 |
2 | HG02602.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.793-2504C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134314884 | |||||||
| chr5:134315187 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.793-2807G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315187 | |||||||
| chr5:134315278 | G | T | 2 | a0001c0001t0003g0007 a0001c0001t0003g0199 |
3 | HG02647.hp2 HG03139.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.793-2898C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315278 | |||||||
| chr5:134315561 | T | G | 1 | a0001c0001t0001g0023 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.793-3181A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315561 | |||||||
| chr5:134315626 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.793-3246C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315626 | |||||||
| chr5:134315765 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.793-3385A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315765 | |||||||
| chr5:134315883 | C | G | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.792+3475G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134315883 | |||||||
| chr5:134316545 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+2813A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134316545 | |||||||
| chr5:134316583 | C | T | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.792+2775G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134316583 | |||||||
| chr5:134316596 | C | CA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(54): Show |
59 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.792+2761dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134316596 | |||||||
| chr5:134316683 | C | T | 7 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(4): Show |
7 | HG00735.hp1 HG00738.hp2 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.792+2675G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134316683 | |||||||
| chr5:134316706 | G | C | 1 | a0001c0001t0001g0121 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.792+2652C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134316706 | |||||||
| chr5:134317035 | T | C | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.792+2323A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317035 | |||||||
| chr5:134317084 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.792+2274C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317084 | |||||||
| chr5:134317159 | G | A | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.792+2199C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317159 | |||||||
| chr5:134317297 | G | A | 1 | a0001c0001t0001g0002 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.792+2061C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317297 | |||||||
| chr5:134317372 | G | C | 2 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
2 | HG01993.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.792+1986C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317372 | |||||||
| chr5:134317458 | T | C | 1 | a0004c0005t0001g0126 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.792+1900A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317458 | |||||||
| chr5:134317643 | A | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.792+1715T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317643 | |||||||
| chr5:134317841 | G | A | 3 | a0001c0001t0001g0140 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | HG00609.hp2 HG03130.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.792+1517C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317841 | |||||||
| chr5:134317947 | C | T | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.792+1411G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134317947 | |||||||
| chr5:134318033 | G | A | 1 | a0001c0001t0001g0032 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.792+1325C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318033 | |||||||
| chr5:134318076 | A | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.792+1282T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318076 | |||||||
| chr5:134318204 | A | C | 3 | a0001c0001t0001g0093 a0001c0001t0001g0165 a0001c0001t0001g0166 |
3 | HG02559.hp1 HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.792+1154T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318204 | |||||||
| chr5:134318328 | A | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+1030T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318328 | |||||||
| chr5:134318330 | GA | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+1027delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318330 | |||||||
| chr5:134318454 | C | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.792+904G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318454 | |||||||
| chr5:134318458 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.792+900T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318458 | |||||||
| chr5:134318508 | C | T | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.792+850G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318508 | |||||||
| chr5:134318509 | G | A | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.792+849C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318509 | |||||||
| chr5:134318513 | C | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.792+845G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318513 | |||||||
| chr5:134318518 | C | T | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.792+840G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318518 | |||||||
| chr5:134318571 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+787T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318571 | |||||||
| chr5:134318603 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.792+755T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318603 | |||||||
| chr5:134318840 | G | A | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.792+518C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318840 | |||||||
| chr5:134318840 | G | T | 1 | a0001c0001t0001g0044 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.792+518C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134318840 | |||||||
| chr5:134319107 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.792+251C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134319107 | |||||||
| chr5:134319159 | C | T | 1 | a0001c0001t0001g0152 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.792+199G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134319159 | |||||||
| chr5:134319260 | T | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+98A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134319260 | |||||||
| chr5:134319330 | C | T | 1 | a0003c0006t0001g0020 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.792+28G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 6/12 | chr5 | 134319330 | |||||||
| chr5:134319659 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.653-162G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134319659 | |||||||
| chr5:134319666 | T | TAAAAAAC others(2673): Show |
1 | a0001c0001t0001g0161 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.653-170_653-169ins others(2680): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134319666 | |||||||
| chr5:134319777 | T | C | 55 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(52): Show |
57 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(54): Show |
intron_variant | MODIFIER | c.653-280A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134319777 | |||||||
| chr5:134319808 | A | G | 1 | a0001c0001t0001g0023 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.653-311T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134319808 | |||||||
| chr5:134320395 | T | C | 1 | a0001c0001t0002g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.653-898A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134320395 | |||||||
| chr5:134321005 | C | CT | 37 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(34): Show |
39 | HG00741.hp1 HG00741.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.652+785dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321005 | |||||||
| chr5:134321005 | CT | C | 16 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(13): Show |
17 | HG00280.hp1 HG02074.hp2 HG02083.hp2 others(14): Show |
intron_variant | MODIFIER | c.652+785delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321005 | |||||||
| chr5:134321111 | C | CA | 4 | a0001c0001t0003g0007 a0001c0001t0003g0199 a0001c0001t0003g0202 others(1): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.652+679dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321111 | |||||||
| chr5:134321112 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.652+679T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321112 | |||||||
| chr5:134321113 | G | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.652+678C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321113 | |||||||
| chr5:134321335 | A | T | 1 | a0001c0001t0001g0159 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.652+456T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321335 | |||||||
| chr5:134321585 | T | C | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.652+206A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | 134321585 | |||||||
| chr5:134321919 | G | GA | 23 | a0001c0001t0001g0005 a0001c0001t0001g0071 a0001c0001t0001g0081 others(20): Show |
24 | HG00140.hp1 HG00621.hp1 HG00733.hp2 others(21): Show |
intron_variant | MODIFIER | c.540-17dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134321919 | |||||||
| chr5:134322225 | G | A | 2 | a0001c0001t0001g0069 a0001c0001t0001g0088 |
2 | HG01109.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.540-322C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134322225 | |||||||
| chr5:134322650 | G | A | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.540-747C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134322650 | |||||||
| chr5:134322677 | A | T | 13 | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0080 others(10): Show |
13 | HG00642.hp2 HG01109.hp2 HG01981.hp2 others(10): Show |
intron_variant | MODIFIER | c.540-774T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134322677 | |||||||
| chr5:134322728 | T | A | 2 | a0001c0001t0001g0115 a0001c0001t0001g0122 |
2 | HG02083.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.540-825A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134322728 | |||||||
| chr5:134322979 | C | CA | 11 | a0001c0001t0001g0015 a0001c0001t0001g0093 a0001c0001t0001g0094 others(8): Show |
11 | HG01099.hp1 HG02055.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.540-1077dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134322979 | |||||||
| chr5:134323184 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.540-1281G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323184 | |||||||
| chr5:134323185 | A | G | 7 | a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0052 others(4): Show |
7 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.540-1282T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323185 | |||||||
| chr5:134323240 | C | T | 1 | a0001c0001t0001g0089 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.540-1337G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323240 | |||||||
| chr5:134323603 | C | T | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-1700G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323603 | |||||||
| chr5:134323620 | A | T | 2 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | HG01099.hp2 HG01168.hp2 |
intron_variant | MODIFIER | c.540-1717T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323620 | |||||||
| chr5:134323771 | T | C | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.540-1868A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323771 | |||||||
| chr5:134323824 | C | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.540-1921G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323824 | |||||||
| chr5:134323932 | A | T | 1 | a0001c0001t0001g0087 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.540-2029T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134323932 | |||||||
| chr5:134324079 | T | C | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.540-2176A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324079 | |||||||
| chr5:134324091 | C | T | 3 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | HG02615.hp2 HG03130.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.540-2188G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324091 | |||||||
| chr5:134324154 | A | C | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.540-2251T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324154 | |||||||
| chr5:134324258 | C | T | 191 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(188): Show |
198 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
intron_variant | MODIFIER | c.540-2355G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324258 | |||||||
| chr5:134324356 | G | C | 2 | a0001c0001t0001g0132 a0001c0001t0001g0189 |
2 | HG00140.hp2 HG00733.hp1 |
intron_variant | MODIFIER | c.540-2453C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324356 | |||||||
| chr5:134324366 | C | T | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.540-2463G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324366 | |||||||
| chr5:134324370 | T | G | 2 | a0001c0001t0003g0007 a0001c0001t0003g0199 |
3 | HG02647.hp2 HG03139.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.540-2467A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324370 | |||||||
| chr5:134324404 | A | G | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.540-2501T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324404 | |||||||
| chr5:134324466 | G | A | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.540-2563C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324466 | |||||||
| chr5:134324537 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-2634A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324537 | |||||||
| chr5:134324689 | T | C | 2 | a0001c0001t0001g0086 a0001c0001t0001g0095 |
2 | HG00741.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.540-2786A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324689 | |||||||
| chr5:134324714 | C | T | 72 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(69): Show |
76 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.540-2811G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324714 | |||||||
| chr5:134324758 | T | C | 1 | a0001c0001t0001g0152 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.540-2855A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324758 | |||||||
| chr5:134324847 | A | T | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-2944T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134324847 | |||||||
| chr5:134325079 | G | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.540-3176C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325079 | |||||||
| chr5:134325107 | A | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-3204T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325107 | |||||||
| chr5:134325149 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.540-3246C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325149 | |||||||
| chr5:134325162 | A | T | 1 | a0001c0001t0001g0052 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.540-3259T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325162 | |||||||
| chr5:134325194 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.540-3291C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325194 | |||||||
| chr5:134325228 | AT | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0123 others(1): Show |
5 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(2): Show |
intron_variant | MODIFIER | c.540-3326delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325228 | |||||||
| chr5:134325339 | T | C | 197 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(194): Show |
204 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
intron_variant | MODIFIER | c.540-3436A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325339 | |||||||
| chr5:134325531 | AAC | A | 2 | a0001c0001t0001g0037 a0001c0001t0001g0038 |
2 | HG02280.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.540-3630_540-3629d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325531 | |||||||
| chr5:134325549 | T | C | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-3646A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325549 | |||||||
| chr5:134325558 | T | C | 2 | a0001c0001t0001g0086 a0001c0001t0001g0095 |
2 | HG00741.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.540-3655A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325558 | |||||||
| chr5:134325717 | C | T | 4 | a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0117 others(1): Show |
4 | HG00438.hp1 HG02523.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-3814G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325717 | |||||||
| chr5:134325803 | G | A | 4 | a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 others(1): Show |
4 | HG01496.hp1 HG02451.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-3900C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325803 | |||||||
| chr5:134325908 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-4005G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325908 | |||||||
| chr5:134325920 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-4017G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325920 | |||||||
| chr5:134325927 | C | CT | 45 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(42): Show |
47 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.540-4025dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325927 | |||||||
| chr5:134325927 | C | CTT | 6 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0042 others(3): Show |
6 | HG02055.hp1 HG02300.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.540-4026_540-4025d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325927 | |||||||
| chr5:134325927 | CT | C | 116 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(113): Show |
120 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
intron_variant | MODIFIER | c.540-4025delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134325927 | |||||||
| chr5:134326092 | T | A | 13 | a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0174 others(10): Show |
13 | HG00438.hp2 HG00609.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.540-4189A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326092 | |||||||
| chr5:134326438 | A | C | 3 | a0001c0001t0001g0081 a0001c0001t0001g0147 a0005c0007t0001g0198 |
3 | NA18951.hp2 NA18971.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.540-4535T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326438 | |||||||
| chr5:134326763 | T | G | 1 | a0001c0001t0001g0060 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.540-4860A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326763 | |||||||
| chr5:134326815 | GTGTATAT others(11): Show |
G | 2 | a0001c0001t0001g0045 a0003c0006t0001g0020 |
2 | HG01109.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.540-4930_540-4913d others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(13): Show |
G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0038 |
2 | HG02280.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.540-4932_540-4913d others(22): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(15): Show |
G | 4 | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0046 others(1): Show |
4 | HG00741.hp1 HG01243.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.540-4934_540-4913d others(24): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(17): Show |
G | 26 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(23): Show |
27 | HG00323.hp2 HG00642.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.540-4936_540-4913d others(26): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(19): Show |
G | 16 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(13): Show |
17 | HG00280.hp1 HG02074.hp2 HG02683.hp2 others(14): Show |
intron_variant | MODIFIER | c.540-4938_540-4913d others(28): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(25): Show |
G | 2 | a0001c0001t0001g0193 a0001c0001t0001g0195 |
2 | HG02615.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.540-4944_540-4913d others(34): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326815 | GTGTATAT others(27): Show |
G | 2 | a0001c0001t0001g0194 a0001c0001t0001g0196 |
2 | HG02717.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.540-4946_540-4913d others(36): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326815 | |||||||
| chr5:134326817 | GTA | G | 4 | a0001c0001t0001g0093 a0001c0001t0001g0128 a0001c0001t0001g0165 others(1): Show |
4 | HG01257.hp1 HG02559.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-4916_540-4915d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326817 | GTATATA | G | 4 | a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 others(1): Show |
4 | HG01099.hp1 HG02647.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.540-4920_540-4915d others(8): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326817 | GTATATAT others(3): Show |
G | 3 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0169 |
3 | HG02630.hp1 HG02809.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.540-4924_540-4915d others(12): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326817 | GTATATAT others(5): Show |
G | 1 | a0001c0001t0001g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.540-4926_540-4915d others(14): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326817 | GTATATAT others(7): Show |
G | 1 | a0001c0001t0001g0006 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.540-4928_540-4915d others(16): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326817 | GTATATAT others(11): Show |
G | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.540-4932_540-4915d others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326817 | |||||||
| chr5:134326819 | A | ATATATAT others(11): Show |
2 | a0001c0001t0001g0089 a0001c0001t0001g0118 |
2 | HG03669.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.540-4917_540-4916i others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326819 | |||||||
| chr5:134326819 | A | ATATATAT others(13): Show |
1 | a0001c0001t0001g0133 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.540-4917_540-4916i others(22): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326819 | |||||||
| chr5:134326821 | A | ATATATAT others(9): Show |
3 | a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0197 |
3 | HG01109.hp2 HG01981.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.540-4919_540-4918i others(18): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326821 | |||||||
| chr5:134326825 | A | ATATATGT others(5): Show |
3 | a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0141 |
3 | HG00642.hp2 HG02523.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.540-4923_540-4922i others(14): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326825 | |||||||
| chr5:134326827 | A | ATATGTGT others(3): Show |
1 | a0001c0001t0001g0112 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.540-4925_540-4924i others(12): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326827 | |||||||
| chr5:134326827 | A | ATATGTGT others(5): Show |
1 | a0001c0001t0001g0080 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.540-4925_540-4924i others(14): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326827 | |||||||
| chr5:134326829 | A | ATG | 44 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(41): Show |
46 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(43): Show |
intron_variant | MODIFIER | c.540-4927_540-4926i others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326829 | |||||||
| chr5:134326829 | A | ATGTG | 19 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0103 others(16): Show |
19 | HG00609.hp2 HG00621.hp2 HG00733.hp1 others(16): Show |
intron_variant | MODIFIER | c.540-4927_540-4926i others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326829 | |||||||
| chr5:134326829 | A | ATGTGTG | 9 | a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0092 others(6): Show |
9 | HG00140.hp2 HG01074.hp2 HG02523.hp1 others(6): Show |
intron_variant | MODIFIER | c.540-4927_540-4926i others(8): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326829 | |||||||
| chr5:134326829 | A | ATGTGTGT others(1): Show |
4 | a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0161 others(1): Show |
4 | HG02602.hp2 HG02622.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-4927_540-4926i others(10): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326829 | |||||||
| chr5:134326830 | TATATATA others(31): Show |
T | 4 | a0001c0001t0003g0007 a0001c0001t0003g0199 a0001c0001t0003g0202 others(1): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.540-4965_540-4928d others(40): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326830 | |||||||
| chr5:134326831 | A | ATG | 2 | a0001c0001t0001g0176 a0001c0001t0001g0182 |
2 | HG00438.hp2 HG00609.hp1 |
intron_variant | MODIFIER | c.540-4929_540-4928i others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326831 | |||||||
| chr5:134326831 | A | ATGTG | 3 | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 |
3 | NA18944.hp2 NA18947.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.540-4929_540-4928i others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326831 | |||||||
| chr5:134326831 | A | G | 82 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(79): Show |
84 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(81): Show |
intron_variant | MODIFIER | c.540-4928T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326831 | |||||||
| chr5:134326833 | A | G | 82 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(79): Show |
84 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(81): Show |
intron_variant | MODIFIER | c.540-4930T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326833 | |||||||
| chr5:134326835 | A | G | 62 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(59): Show |
64 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
intron_variant | MODIFIER | c.540-4932T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326835 | |||||||
| chr5:134326837 | A | G | 17 | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0090 others(14): Show |
17 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(14): Show |
intron_variant | MODIFIER | c.540-4934T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326837 | |||||||
| chr5:134326839 | A | G | 2 | a0001c0001t0001g0128 a0001c0001t0001g0177 |
2 | HG01257.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.540-4936T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326839 | |||||||
| chr5:134326840 | TATATATA others(21): Show |
T | 3 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 |
3 | HG02280.hp1 HG03098.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.540-4965_540-4938d others(30): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326840 | |||||||
| chr5:134326842 | TATATATA others(19): Show |
T | 10 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0052 others(7): Show |
11 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.540-4965_540-4940d others(28): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326842 | |||||||
| chr5:134326844 | TATATATA others(17): Show |
T | 1 | a0001c0001t0001g0051 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.540-4965_540-4942d others(26): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326844 | |||||||
| chr5:134326848 | TATATATA others(13): Show |
T | 5 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 others(2): Show |
5 | HG02559.hp2 HG02572.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.540-4965_540-4946d others(22): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326848 | |||||||
| chr5:134326850 | TATATATA others(11): Show |
T | 1 | a0001c0001t0001g0099 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.540-4965_540-4948d others(20): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326850 | |||||||
| chr5:134326854 | TATATATA others(7): Show |
T | 2 | a0001c0001t0001g0095 a0001c0001t0001g0192 |
2 | HG00741.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.540-4965_540-4952d others(16): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326854 | |||||||
| chr5:134326864 | T | C | 2 | a0001c0001t0001g0093 a0001c0001t0001g0122 |
2 | HG02083.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.540-4961A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326864 | |||||||
| chr5:134326866 | T | C | 14 | a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0108 others(11): Show |
14 | HG00140.hp1 HG00609.hp2 HG02074.hp1 others(11): Show |
intron_variant | MODIFIER | c.540-4963A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326866 | |||||||
| chr5:134326868 | C | T | 54 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(51): Show |
56 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.540-4965G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326868 | |||||||
| chr5:134326929 | T | C | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.540-5026A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134326929 | |||||||
| chr5:134327091 | G | A | 1 | a0002c0004t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.540-5188C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134327091 | |||||||
| chr5:134327211 | CT | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-5309delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134327211 | |||||||
| chr5:134327368 | C | G | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.540-5465G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134327368 | |||||||
| chr5:134327443 | A | G | 19 | a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0102 others(16): Show |
19 | HG00438.hp1 HG00621.hp2 HG01928.hp1 others(16): Show |
intron_variant | MODIFIER | c.540-5540T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134327443 | |||||||
| chr5:134327632 | GAACCAGG others(4): Show |
G | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-5740_540-5730d others(13): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134327632 | |||||||
| chr5:134328094 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-6191T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134328094 | |||||||
| chr5:134328409 | G | A | 2 | a0001c0001t0001g0018 a0001c0001t0001g0028 |
2 | HG02074.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.540-6506C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134328409 | |||||||
| chr5:134328696 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-6793C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134328696 | |||||||
| chr5:134328846 | A | G | 6 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 others(3): Show |
6 | HG02055.hp1 HG02280.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.540-6943T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134328846 | |||||||
| chr5:134328920 | A | G | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-7017T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134328920 | |||||||
| chr5:134329039 | G | C | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(61): Show |
67 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.540-7136C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329039 | |||||||
| chr5:134329077 | A | G | 1 | a0001c0001t0001g0032 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.540-7174T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329077 | |||||||
| chr5:134329159 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.540-7256T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329159 | |||||||
| chr5:134329405 | G | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-7502C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329405 | |||||||
| chr5:134329406 | C | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-7503G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329406 | |||||||
| chr5:134329430 | C | T | 87 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(84): Show |
92 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.540-7527G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329430 | |||||||
| chr5:134329837 | A | G | 1 | a0001c0001t0002g0073 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.540-7934T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134329837 | |||||||
| chr5:134330220 | C | T | 5 | a0001c0001t0002g0003 a0001c0001t0002g0074 a0001c0001t0002g0075 others(2): Show |
6 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.540-8317G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330220 | |||||||
| chr5:134330718 | GA | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.540-8816delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330718 | |||||||
| chr5:134330832 | C | CA | 6 | a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0139 others(3): Show |
6 | HG01109.hp1 HG01175.hp1 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.540-8930dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330832 | |||||||
| chr5:134330842 | A | G | 197 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(194): Show |
204 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
intron_variant | MODIFIER | c.540-8939T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330842 | |||||||
| chr5:134330872 | C | CTT | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.540-8971_540-8970d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330872 | |||||||
| chr5:134330916 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.540-9013G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134330916 | |||||||
| chr5:134331163 | T | G | 1 | a0005c0007t0001g0198 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.540-9260A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134331163 | |||||||
| chr5:134331454 | C | CG | 42 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(39): Show |
42 | HG00280.hp2 HG00438.hp2 HG00609.hp1 others(39): Show |
intron_variant | MODIFIER | c.540-9552dupC | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134331454 | |||||||
| chr5:134331454 | C | G | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.540-9551G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134331454 | |||||||
| chr5:134332282 | A | C | 1 | a0001c0003t0001g0114 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.540-10379T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134332282 | |||||||
| chr5:134332288 | T | C | 1 | a0001c0001t0001g0140 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.540-10385A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134332288 | |||||||
| chr5:134332405 | T | C | 1 | a0001c0001t0001g0046 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.540-10502A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134332405 | |||||||
| chr5:134332590 | G | A | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.540-10687C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134332590 | |||||||
| chr5:134332659 | G | A | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.540-10756C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134332659 | |||||||
| chr5:134333174 | A | T | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.540-11271T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134333174 | |||||||
| chr5:134333220 | G | A | 2 | a0001c0001t0001g0051 a0001c0001t0001g0052 |
2 | HG02976.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.540-11317C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134333220 | |||||||
| chr5:134333265 | A | C | 2 | a0001c0001t0002g0074 a0001c0001t0002g0076 |
2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.540-11362T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134333265 | |||||||
| chr5:134333281 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.540-11378A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134333281 | |||||||
| chr5:134333342 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.540-11439G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134333342 | |||||||
| chr5:134334212 | T | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.540-12309A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334212 | |||||||
| chr5:134334344 | G | A | 1 | a0001c0001t0001g0080 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.540-12441C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334344 | |||||||
| chr5:134334451 | G | C | 1 | a0001c0001t0001g0166 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.540-12548C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334451 | |||||||
| chr5:134334594 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-12691A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334594 | |||||||
| chr5:134334707 | T | G | 1 | a0001c0001t0001g0130 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.540-12804A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334707 | |||||||
| chr5:134334907 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.540-13004C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334907 | |||||||
| chr5:134334933 | A | T | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.540-13030T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134334933 | |||||||
| chr5:134335068 | C | T | 63 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(60): Show |
65 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.540-13165G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335068 | |||||||
| chr5:134335141 | C | CT | 8 | a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0152 others(5): Show |
8 | HG01175.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.540-13239dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335141 | |||||||
| chr5:134335141 | CT | C | 7 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0025 others(4): Show |
7 | HG00642.hp1 HG01099.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.540-13239delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335141 | |||||||
| chr5:134335273 | A | C | 67 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(64): Show |
69 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.540-13370T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335273 | |||||||
| chr5:134335356 | T | C | 87 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(84): Show |
92 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.540-13453A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335356 | |||||||
| chr5:134335371 | C | T | 63 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(60): Show |
65 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.540-13468G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335371 | |||||||
| chr5:134335428 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-13525A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335428 | |||||||
| chr5:134335632 | G | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.540-13729C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335632 | |||||||
| chr5:134335669 | C | T | 197 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(194): Show |
204 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
intron_variant | MODIFIER | c.540-13766G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335669 | |||||||
| chr5:134335753 | C | T | 1 | a0001c0001t0001g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.540-13850G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335753 | |||||||
| chr5:134335966 | C | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.540-14063G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134335966 | |||||||
| chr5:134336175 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.539+14074C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336175 | |||||||
| chr5:134336228 | C | CT | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+14020dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336228 | |||||||
| chr5:134336255 | C | A | 2 | a0001c0001t0001g0031 a0001c0001t0001g0036 |
2 | HG01243.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.539+13994G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336255 | |||||||
| chr5:134336416 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.539+13833C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336416 | |||||||
| chr5:134336534 | C | T | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.539+13715G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336534 | |||||||
| chr5:134336964 | G | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0087 others(1): Show |
5 | HG00099.hp2 HG00323.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.539+13285C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134336964 | |||||||
| chr5:134337033 | C | T | 2 | a0001c0001t0002g0074 a0001c0001t0002g0076 |
2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539+13216G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337033 | |||||||
| chr5:134337253 | C | T | 1 | a0001c0001t0001g0131 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.539+12996G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337253 | |||||||
| chr5:134337337 | G | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0087 others(1): Show |
5 | HG00099.hp2 HG00323.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.539+12912C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337337 | |||||||
| chr5:134337459 | G | A | 2 | a0001c0001t0002g0074 a0001c0001t0002g0076 |
2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539+12790C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337459 | |||||||
| chr5:134337695 | T | C | 1 | a0001c0001t0001g0145 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.539+12554A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337695 | |||||||
| chr5:134337910 | AGT | A | 5 | a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02486.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.539+12337_539+1233 others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337910 | |||||||
| chr5:134337984 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.539+12265A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337984 | |||||||
| chr5:134337999 | C | A | 1 | a0001c0001t0001g0048 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.539+12250G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134337999 | |||||||
| chr5:134338033 | T | C | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.539+12216A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338033 | |||||||
| chr5:134338037 | C | G | 1 | a0001c0001t0002g0073 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.539+12212G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338037 | |||||||
| chr5:134338174 | T | C | 1 | a0001c0001t0001g0016 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.539+12075A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338174 | |||||||
| chr5:134338305 | A | C | 1 | a0001c0001t0001g0103 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.539+11944T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338305 | |||||||
| chr5:134338415 | T | C | 1 | a0001c0001t0003g0200 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539+11834A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338415 | |||||||
| chr5:134338417 | T | C | 5 | a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02486.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.539+11832A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338417 | |||||||
| chr5:134338488 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.539+11761C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338488 | |||||||
| chr5:134338510 | T | C | 1 | a0001c0001t0001g0181 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.539+11739A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338510 | |||||||
| chr5:134338600 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.539+11649C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338600 | |||||||
| chr5:134338717 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.539+11532A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338717 | |||||||
| chr5:134338791 | G | A | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(66): Show |
72 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.539+11458C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134338791 | |||||||
| chr5:134339110 | C | T | 3 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0141 |
3 | HG02622.hp2 HG02886.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.539+11139G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339110 | |||||||
| chr5:134339205 | G | A | 1 | a0004c0005t0001g0126 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.539+11044C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339205 | |||||||
| chr5:134339313 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.539+10936C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339313 | |||||||
| chr5:134339346 | A | C | 1 | a0001c0001t0001g0166 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.539+10903T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339346 | |||||||
| chr5:134339536 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.539+10713T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339536 | |||||||
| chr5:134339795 | T | C | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.539+10454A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134339795 | |||||||
| chr5:134340047 | G | A | 4 | a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0105 others(1): Show |
4 | HG00621.hp1 HG02155.hp1 NA18984.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+10202C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134340047 | |||||||
| chr5:134340467 | G | A | 5 | a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02486.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.539+9782C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134340467 | |||||||
| chr5:134340734 | G | A | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.539+9515C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134340734 | |||||||
| chr5:134340815 | T | A | 1 | a0001c0001t0001g0132 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.539+9434A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134340815 | |||||||
| chr5:134341257 | C | T | 5 | a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02486.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.539+8992G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134341257 | |||||||
| chr5:134341919 | C | T | 1 | a0001c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.539+8330G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134341919 | |||||||
| chr5:134341935 | C | T | 65 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(62): Show |
68 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(65): Show |
intron_variant | MODIFIER | c.539+8314G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134341935 | |||||||
| chr5:134341945 | C | T | 5 | a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 others(2): Show |
5 | HG02486.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.539+8304G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134341945 | |||||||
| chr5:134342326 | C | T | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.539+7923G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134342326 | |||||||
| chr5:134342624 | G | C | 1 | a0001c0001t0001g0063 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.539+7625C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134342624 | |||||||
| chr5:134342634 | T | G | 2 | a0001c0001t0001g0078 a0001c0001t0001g0127 |
2 | NA18955.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.539+7615A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134342634 | |||||||
| chr5:134343034 | G | A | 4 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0087 others(1): Show |
5 | HG00099.hp2 HG00323.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.539+7215C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343034 | |||||||
| chr5:134343076 | A | T | 1 | a0001c0001t0001g0133 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.539+7173T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343076 | |||||||
| chr5:134343201 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.539+7048A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343201 | |||||||
| chr5:134343319 | T | C | 1 | a0001c0001t0001g0128 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.539+6930A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343319 | |||||||
| chr5:134343538 | A | G | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.539+6711T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343538 | |||||||
| chr5:134343643 | T | C | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.539+6606A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343643 | |||||||
| chr5:134343676 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.539+6573G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343676 | |||||||
| chr5:134343835 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+6414G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134343835 | |||||||
| chr5:134344148 | A | C | 1 | a0001c0001t0001g0008 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.539+6101T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134344148 | |||||||
| chr5:134344427 | A | T | 2 | a0001c0001t0001g0083 a0001c0001t0001g0105 |
2 | NA18984.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.539+5822T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134344427 | |||||||
| chr5:134344533 | G | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+5716C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134344533 | |||||||
| chr5:134344695 | G | A | 2 | a0001c0001t0001g0129 a0001c0001t0001g0172 |
2 | HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.539+5554C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134344695 | |||||||
| chr5:134344803 | T | C | 104 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0065 others(101): Show |
106 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show |
intron_variant | MODIFIER | c.539+5446A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134344803 | |||||||
| chr5:134345067 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.539+5182T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134345067 | |||||||
| chr5:134345196 | AACTG | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0160 |
3 | NA18998.hp1 NA19057.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.539+5049_539+5052d others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134345196 | |||||||
| chr5:134345321 | G | T | 5 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 others(2): Show |
5 | HG02559.hp2 HG02572.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.539+4928C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134345321 | |||||||
| chr5:134345769 | T | C | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.539+4480A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134345769 | |||||||
| chr5:134345885 | G | A | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.539+4364C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134345885 | |||||||
| chr5:134346063 | G | A | 3 | a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 |
3 | HG00438.hp2 HG00609.hp1 NA18944.hp2 |
intron_variant | MODIFIER | c.539+4186C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346063 | |||||||
| chr5:134346084 | T | C | 1 | a0001c0001t0001g0085 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.539+4165A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346084 | |||||||
| chr5:134346319 | C | G | 1 | a0001c0001t0001g0108 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.539+3930G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346319 | |||||||
| chr5:134346440 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+3809A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346440 | |||||||
| chr5:134346625 | T | C | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.539+3624A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346625 | |||||||
| chr5:134346697 | T | C | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.539+3552A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346697 | |||||||
| chr5:134346830 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.539+3419G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346830 | |||||||
| chr5:134346879 | A | G | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.539+3370T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346879 | |||||||
| chr5:134346928 | C | T | 2 | a0001c0001t0001g0004 a0001c0001t0001g0079 |
3 | HG00323.hp1 HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.539+3321G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346928 | |||||||
| chr5:134346953 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+3296G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134346953 | |||||||
| chr5:134347201 | TA | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(66): Show |
72 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(69): Show |
intron_variant | MODIFIER | c.539+3047delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134347201 | |||||||
| chr5:134347601 | G | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(47): Show |
52 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.539+2648C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134347601 | |||||||
| chr5:134347617 | C | T | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.539+2632G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134347617 | |||||||
| chr5:134347697 | T | TA | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(47): Show |
52 | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.539+2551dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134347697 | |||||||
| chr5:134347697 | T | TAA | 8 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0022 others(5): Show |
9 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.539+2550_539+2551d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134347697 | |||||||
| chr5:134348062 | G | A | 7 | a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0052 others(4): Show |
7 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.539+2187C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348062 | |||||||
| chr5:134348563 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+1686G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348563 | |||||||
| chr5:134348578 | T | TA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(54): Show |
59 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.539+1670dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348578 | |||||||
| chr5:134348791 | G | GA | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.539+1457dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348791 | |||||||
| chr5:134348896 | C | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.539+1353G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348896 | |||||||
| chr5:134348904 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+1345T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348904 | |||||||
| chr5:134348979 | G | A | 4 | a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 others(1): Show |
4 | HG01496.hp1 HG02451.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+1270C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134348979 | |||||||
| chr5:134349275 | T | G | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.539+974A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349275 | |||||||
| chr5:134349541 | G | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.539+708C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349541 | |||||||
| chr5:134349637 | G | A | 57 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(54): Show |
59 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(56): Show |
intron_variant | MODIFIER | c.539+612C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349637 | |||||||
| chr5:134349834 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.539+415G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349834 | |||||||
| chr5:134349848 | AG | A | 2 | a0001c0001t0001g0066 a0001c0001t0001g0131 |
2 | HG01074.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.539+400delC | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349848 | |||||||
| chr5:134349985 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.539+264G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134349985 | |||||||
| chr5:134350027 | A | C | 1 | a0001c0001t0001g0095 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.539+222T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134350027 | |||||||
| chr5:134350198 | CA | C | 3 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | HG02615.hp2 HG03130.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.539+50delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | 134350198 | |||||||
| chr5:134350581 | T | C | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.361-154A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350581 | |||||||
| chr5:134350656 | G | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-229C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350656 | |||||||
| chr5:134350695 | T | C | 1 | a0001c0001t0001g0132 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.361-268A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350695 | |||||||
| chr5:134350769 | C | T | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.361-342G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350769 | |||||||
| chr5:134350831 | G | A | 1 | a0001c0001t0001g0033 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.361-404C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350831 | |||||||
| chr5:134350831 | G | GA | 48 | a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 others(45): Show |
48 | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(45): Show |
intron_variant | MODIFIER | c.361-405dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350831 | |||||||
| chr5:134350831 | GA | G | 38 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(35): Show |
38 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.361-405delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350831 | |||||||
| chr5:134350832 | A | G | 1 | a0001c0001t0001g0033 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.361-405T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350832 | |||||||
| chr5:134350833 | AAAAAAAA others(5): Show |
A | 1 | a0001c0001t0001g0099 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.361-418_361-407del others(12): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350833 | |||||||
| chr5:134350853 | G | A | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.361-426C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134350853 | |||||||
| chr5:134351099 | T | C | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-672A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351099 | |||||||
| chr5:134351574 | A | G | 2 | a0001c0001t0003g0007 a0001c0001t0003g0199 |
3 | HG02647.hp2 HG03139.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.361-1147T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351574 | |||||||
| chr5:134351591 | GTCCTACA | G | 1 | a0001c0001t0001g0005 | 2 | HG01358.hp2 HG01496.hp2 |
intron_variant | MODIFIER | c.361-1171_361-1165d others(9): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351591 | |||||||
| chr5:134351717 | T | C | 8 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(5): Show |
8 | HG00741.hp2 HG01243.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.361-1290A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351717 | |||||||
| chr5:134351842 | A | G | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-1415T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351842 | |||||||
| chr5:134351881 | A | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.361-1454T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134351881 | |||||||
| chr5:134352301 | AT | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.361-1875delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352301 | |||||||
| chr5:134352367 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-1940G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352367 | |||||||
| chr5:134352422 | T | A | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.361-1995A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352422 | |||||||
| chr5:134352935 | CA | C | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.361-2509delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352935 | |||||||
| chr5:134352951 | C | T | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-2524G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352951 | |||||||
| chr5:134352984 | A | T | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.361-2557T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134352984 | |||||||
| chr5:134353038 | TA | T | 2 | a0001c0001t0003g0007 a0001c0001t0003g0199 |
3 | HG02647.hp2 HG03139.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.361-2612delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353038 | |||||||
| chr5:134353281 | C | T | 3 | a0001c0001t0001g0094 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.361-2854G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353281 | |||||||
| chr5:134353553 | C | CT | 12 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0037 others(9): Show |
12 | HG01109.hp2 HG01433.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.361-3127dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353553 | |||||||
| chr5:134353553 | C | CTT | 48 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(45): Show |
50 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(47): Show |
intron_variant | MODIFIER | c.361-3128_361-3127d others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353553 | |||||||
| chr5:134353553 | CT | C | 32 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 others(29): Show |
32 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(29): Show |
intron_variant | MODIFIER | c.361-3127delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353553 | |||||||
| chr5:134353621 | G | A | 1 | a0001c0001t0001g0002 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.361-3194C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353621 | |||||||
| chr5:134353645 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.361-3218C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353645 | |||||||
| chr5:134353948 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.361-3521G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134353948 | |||||||
| chr5:134354036 | T | TTTG | 4 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0039 others(1): Show |
4 | NA18955.hp1 NA18980.hp1 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.361-3612_361-3610d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354036 | |||||||
| chr5:134354086 | C | T | 4 | a0001c0001t0003g0007 a0001c0001t0003g0199 a0001c0001t0003g0202 others(1): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.361-3659G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354086 | |||||||
| chr5:134354167 | C | G | 2 | a0001c0001t0001g0083 a0001c0001t0001g0105 |
2 | NA18984.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.361-3740G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354167 | |||||||
| chr5:134354274 | T | C | 1 | a0001c0001t0001g0165 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.361-3847A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354274 | |||||||
| chr5:134354422 | T | A | 2 | a0001c0001t0001g0041 a0001c0001t0001g0050 |
2 | HG00280.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.361-3995A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354422 | |||||||
| chr5:134354523 | G | A | 2 | a0001c0001t0001g0100 a0001c0001t0001g0149 |
2 | HG00621.hp1 HG02155.hp1 |
intron_variant | MODIFIER | c.361-4096C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354523 | |||||||
| chr5:134354713 | CTGAGGCA others(9): Show |
C | 1 | a0001c0001t0001g0008 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.361-4302_361-4287d others(18): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354713 | |||||||
| chr5:134354775 | C | T | 1 | a0001c0001t0001g0087 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.361-4348G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354775 | |||||||
| chr5:134354960 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.361-4533T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134354960 | |||||||
| chr5:134355019 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.361-4592G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355019 | |||||||
| chr5:134355235 | G | GA | 10 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0083 others(7): Show |
10 | HG01109.hp2 HG01175.hp2 HG01952.hp1 others(7): Show |
intron_variant | MODIFIER | c.360+4661dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355235 | |||||||
| chr5:134355235 | GA | G | 59 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(56): Show |
62 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.360+4661delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355235 | |||||||
| chr5:134355248 | A | C | 3 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0186 |
3 | HG02976.hp1 HG03453.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.360+4649T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355248 | |||||||
| chr5:134355256 | A | C | 1 | a0001c0001t0001g0025 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.360+4641T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355256 | |||||||
| chr5:134355464 | A | G | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.360+4433T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355464 | |||||||
| chr5:134355676 | A | AATGT | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(59): Show |
64 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.360+4220_360+4221i others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355676 | |||||||
| chr5:134355768 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.360+4129C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355768 | |||||||
| chr5:134355981 | G | A | 15 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0021 others(12): Show |
16 | HG00323.hp2 HG00741.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.360+3916C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134355981 | |||||||
| chr5:134356005 | A | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.360+3892T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356005 | |||||||
| chr5:134356201 | A | C | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.360+3696T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356201 | |||||||
| chr5:134356280 | G | A | 1 | a0001c0001t0001g0154 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.360+3617C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356280 | |||||||
| chr5:134356303 | C | T | 1 | a0001c0001t0001g0165 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.360+3594G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356303 | |||||||
| chr5:134356498 | T | C | 1 | a0001c0001t0001g0194 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.360+3399A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356498 | |||||||
| chr5:134356613 | G | A | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.360+3284C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134356613 | |||||||
| chr5:134357045 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.360+2852A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357045 | |||||||
| chr5:134357099 | G | A | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.360+2798C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357099 | |||||||
| chr5:134357261 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.360+2636G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357261 | |||||||
| chr5:134357359 | A | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.360+2538T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357359 | |||||||
| chr5:134357384 | C | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show |
5 | HG02630.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.360+2513G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357384 | |||||||
| chr5:134357438 | C | CAAAAT | 8 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0087 others(5): Show |
9 | HG00099.hp2 HG00323.hp1 HG01168.hp1 others(6): Show |
intron_variant | MODIFIER | c.360+2454_360+2458d others(7): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357438 | |||||||
| chr5:134357438 | CAAAAT | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.360+2454_360+2458d others(7): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357438 | |||||||
| chr5:134357933 | G | C | 1 | a0001c0001t0001g0092 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.360+1964C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134357933 | |||||||
| chr5:134358185 | T | C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(47): Show |
52 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(49): Show |
intron_variant | MODIFIER | c.360+1712A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134358185 | |||||||
| chr5:134358440 | C | T | 3 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | HG02615.hp2 HG03130.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.360+1457G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134358440 | |||||||
| chr5:134358530 | C | CT | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.360+1366dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134358530 | |||||||
| chr5:134358592 | A | ATATT | 6 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(3): Show |
6 | HG02615.hp2 HG02717.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.360+1301_360+1304d others(6): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134358592 | |||||||
| chr5:134358896 | G | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.360+1001C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134358896 | |||||||
| chr5:134359102 | A | G | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.360+795T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359102 | |||||||
| chr5:134359112 | C | T | 1 | a0001c0001t0001g0171 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.360+785G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359112 | |||||||
| chr5:134359126 | A | G | 1 | a0001c0001t0001g0017 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.360+771T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359126 | |||||||
| chr5:134359145 | GTTGA | G | 2 | a0001c0001t0003g0200 a0001c0001t0003g0201 |
2 | HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.360+748_360+751del others(4): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359145 | |||||||
| chr5:134359158 | G | A | 1 | a0001c0001t0001g0155 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.360+739C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359158 | |||||||
| chr5:134359282 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.360+615C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359282 | |||||||
| chr5:134359308 | C | A | 2 | a0001c0001t0001g0157 a0001c0001t0001g0158 |
2 | NA18944.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.360+589G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359308 | |||||||
| chr5:134359316 | C | A | 1 | a0001c0001t0001g0049 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.360+581G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359316 | |||||||
| chr5:134359348 | C | G | 1 | a0001c0001t0001g0022 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.360+549G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359348 | |||||||
| chr5:134359431 | G | T | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.360+466C>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359431 | |||||||
| chr5:134359506 | C | T | 2 | a0001c0001t0001g0086 a0001c0001t0001g0095 |
2 | HG00741.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.360+391G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359506 | |||||||
| chr5:134359565 | A | T | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.360+332T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359565 | |||||||
| chr5:134359663 | G | C | 1 | a0001c0001t0001g0196 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.360+234C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | 134359663 | |||||||
| chr5:134360161 | A | C | 2 | a0001c0001t0001g0092 a0001c0001t0001g0160 |
2 | NA18998.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.166-70T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134360161 | |||||||
| chr5:134360342 | T | TC | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG02523.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.166-252_166-251ins others(1): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134360342 | |||||||
| chr5:134360344 | A | C | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | HG02523.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.166-253T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134360344 | |||||||
| chr5:134360490 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.166-399G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134360490 | |||||||
| chr5:134361062 | T | C | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.166-971A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361062 | |||||||
| chr5:134361426 | T | C | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.166-1335A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361426 | |||||||
| chr5:134361440 | G | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.166-1349C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361440 | |||||||
| chr5:134361559 | T | A | 3 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 |
3 | HG02258.hp2 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.166-1468A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361559 | |||||||
| chr5:134361580 | G | A | 1 | a0001c0001t0001g0159 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.166-1489C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361580 | |||||||
| chr5:134361613 | T | C | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.166-1522A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361613 | |||||||
| chr5:134361637 | T | C | 4 | a0001c0001t0003g0007 a0001c0001t0003g0199 a0001c0001t0003g0202 others(1): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.166-1546A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361637 | |||||||
| chr5:134361759 | A | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.166-1668T>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361759 | |||||||
| chr5:134361859 | G | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.166-1768C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134361859 | |||||||
| chr5:134362126 | C | T | 3 | a0001c0001t0002g0003 a0001c0001t0002g0075 a0001c0001t0002g0077 |
4 | HG02572.hp1 HG06807.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.166-2035G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362126 | |||||||
| chr5:134362318 | G | A | 60 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(57): Show |
62 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.166-2227C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362318 | |||||||
| chr5:134362320 | G | A | 1 | a0001c0001t0001g0161 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.166-2229C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362320 | |||||||
| chr5:134362510 | A | T | 1 | a0001c0001t0001g0100 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.166-2419T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362510 | |||||||
| chr5:134362533 | T | C | 3 | a0001c0001t0001g0004 a0001c0001t0001g0079 a0001c0001t0001g0162 |
4 | HG00099.hp2 HG00323.hp1 HG01168.hp1 others(1): Show |
intron_variant | MODIFIER | c.166-2442A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362533 | |||||||
| chr5:134362872 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.166-2781C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362872 | |||||||
| chr5:134362925 | G | A | 6 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0163 others(3): Show |
6 | HG02055.hp2 HG02258.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.166-2834C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134362925 | |||||||
| chr5:134363028 | G | A | 1 | a0001c0001t0002g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.166-2937C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363028 | |||||||
| chr5:134363186 | C | G | 7 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 others(4): Show |
7 | HG00741.hp2 HG01243.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.166-3095G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363186 | |||||||
| chr5:134363191 | C | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.166-3100G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363191 | |||||||
| chr5:134363229 | A | G | 2 | a0001c0001t0001g0004 a0001c0001t0001g0079 |
3 | HG00323.hp1 HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.165+3130T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363229 | |||||||
| chr5:134363246 | A | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.165+3113T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363246 | |||||||
| chr5:134363353 | G | A | 1 | a0001c0001t0001g0188 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.165+3006C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363353 | |||||||
| chr5:134363457 | C | CT | 17 | a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0084 others(14): Show |
18 | HG00438.hp1 HG01175.hp2 HG01981.hp2 others(15): Show |
intron_variant | MODIFIER | c.165+2901dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363457 | |||||||
| chr5:134363457 | CT | C | 51 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(48): Show |
53 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.165+2901delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363457 | |||||||
| chr5:134363516 | A | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.165+2843T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363516 | |||||||
| chr5:134363636 | G | A | 72 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(69): Show |
76 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.165+2723C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363636 | |||||||
| chr5:134363659 | C | A | 1 | a0001c0001t0001g0170 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.165+2700G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363659 | |||||||
| chr5:134363746 | C | A | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.165+2613G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363746 | |||||||
| chr5:134363795 | T | A | 6 | a0001c0001t0002g0003 a0001c0001t0002g0073 a0001c0001t0002g0074 others(3): Show |
7 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.165+2564A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363795 | |||||||
| chr5:134363902 | G | A | 1 | a0001c0001t0001g0171 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.165+2457C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363902 | |||||||
| chr5:134363957 | T | TA | 12 | a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0194 others(9): Show |
13 | HG02572.hp1 HG02615.hp2 HG02717.hp2 others(10): Show |
intron_variant | MODIFIER | c.165+2401dupT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363957 | |||||||
| chr5:134363957 | T | TAAAAAAA | 5 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0012 others(2): Show |
5 | HG01496.hp1 HG02451.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.165+2395_165+2401d others(9): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363957 | |||||||
| chr5:134363957 | TA | T | 6 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(3): Show |
6 | HG01168.hp1 HG02895.hp2 NA18951.hp2 others(3): Show |
intron_variant | MODIFIER | c.165+2401delT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363957 | |||||||
| chr5:134363975 | AAAAGAG | A | 47 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(44): Show |
48 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(45): Show |
intron_variant | MODIFIER | c.165+2378_165+2383d others(8): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363975 | |||||||
| chr5:134363977 | A | G | 6 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 others(3): Show |
6 | HG02559.hp1 HG02559.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.165+2382T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363977 | |||||||
| chr5:134363979 | G | A | 22 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(19): Show |
24 | HG01433.hp2 HG01496.hp1 HG02280.hp1 others(21): Show |
intron_variant | MODIFIER | c.165+2380C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363979 | |||||||
| chr5:134363981 | G | A | 8 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0051 others(5): Show |
8 | HG01433.hp2 HG01496.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.165+2378C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134363981 | |||||||
| chr5:134364108 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.165+2251C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364108 | |||||||
| chr5:134364161 | T | C | 13 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(10): Show |
13 | HG00438.hp2 HG00609.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.165+2198A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364161 | |||||||
| chr5:134364180 | A | T | 1 | a0001c0001t0001g0193 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.165+2179T>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364180 | |||||||
| chr5:134364200 | C | A | 4 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | HG02615.hp2 HG02717.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.165+2159G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364200 | |||||||
| chr5:134364399 | C | G | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.165+1960G>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364399 | |||||||
| chr5:134364519 | CT | C | 5 | a0001c0001t0002g0003 a0001c0001t0002g0074 a0001c0001t0002g0075 others(2): Show |
6 | HG02280.hp1 HG02572.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.165+1839delA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364519 | |||||||
| chr5:134364526 | T | G | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.165+1833A>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364526 | |||||||
| chr5:134364538 | G | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.165+1821C>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364538 | |||||||
| chr5:134364694 | T | C | 4 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(1): Show |
4 | HG02055.hp1 HG02717.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.165+1665A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364694 | |||||||
| chr5:134364770 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.165+1589G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364770 | |||||||
| chr5:134364820 | C | CTTT | 68 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(65): Show |
71 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.165+1536_165+1538d others(5): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364820 | |||||||
| chr5:134364856 | G | C | 3 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 |
3 | HG02258.hp2 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.165+1503C>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364856 | |||||||
| chr5:134364883 | T | C | 2 | a0001c0001t0001g0189 a0001c0001t0001g0190 |
2 | HG00140.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.165+1476A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364883 | |||||||
| chr5:134364916 | C | T | 2 | a0001c0001t0001g0071 a0001c0001t0001g0072 |
2 | HG00642.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.165+1443G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364916 | |||||||
| chr5:134364953 | C | A | 6 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show |
6 | HG01175.hp1 HG01515.hp2 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.165+1406G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364953 | |||||||
| chr5:134364973 | A | AT | 6 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0065 others(3): Show |
6 | HG01109.hp2 HG01515.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.165+1385dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134364973 | |||||||
| chr5:134365426 | C | CT | 7 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(4): Show |
7 | HG01496.hp1 HG02451.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.165+932dupA | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134365426 | |||||||
| chr5:134365429 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.165+930A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134365429 | |||||||
| chr5:134365801 | T | A | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.165+558A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134365801 | |||||||
| chr5:134365868 | A | G | 2 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | HG01099.hp2 HG01168.hp2 |
intron_variant | MODIFIER | c.165+491T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134365868 | |||||||
| chr5:134366101 | A | G | 3 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 |
3 | HG00735.hp1 HG01074.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.165+258T>C | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366101 | |||||||
| chr5:134366135 | T | A | 1 | a0001c0001t0001g0192 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.165+224A>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366135 | |||||||
| chr5:134366179 | T | C | 2 | a0001c0001t0003g0202 a0001c0001t0003g0203 |
2 | HG02451.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.165+180A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366179 | |||||||
| chr5:134366255 | C | A | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(59): Show |
64 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.165+104G>T | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366255 | |||||||
| chr5:134366273 | C | CAT | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.165+85_165+86insAT | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366273 | |||||||
| chr5:134366294 | T | C | 1 | a0001c0001t0001g0197 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.165+65A>G | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 2/12 | chr5 | 134366294 | |||||||
| chr5:134366591 | C | T | 58 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show |
60 | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.-21-47G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 1/12 | chr5 | 134366591 | |||||||
| chr5:134366633 | C | T | 1 | a0001c0001t0001g0008 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-21-89G>A | CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 1/12 | chr5 | 134366633 |