Item | Value |
---|---|
geneid | 8814 |
ensemblid | ENSG00000100490.10 |
hgncid | 1781 |
symbol | CDKL1 |
name | cyclin dependent kinase like 1 |
refseq_nuc | NM_004196.7 |
refseq_prot | NP_004187.3 |
ensembl_nuc | ENST00000395834.6 |
ensembl_prot | ENSP00000379176.2 |
mane_status | MANE Select |
chr | chr14 |
start | 50326265 |
end | 50396881 |
strand | - |
ver | v1.2 |
region | chr14:50326265-50396881 |
region5000 | chr14:50321265-50401881 |
regionname0 | CDKL1_chr14_50326265_50396881 |
regionname5000 | CDKL1_chr14_50321265_50401881 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 357 | 178 | 51 | 41 | 62 | 7 | 16 | 38 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0002 | 1/0 | 357 | 116 | 26 | 26 | 36 | 8 | 19 | 24 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0003 | 0/0 | 357 | 5 | 1 | 3 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0004 | 0/0 | 357 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0005 | 0/0 | 357 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0006 | 0/0 | 357 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(352): Show |
chr14 | 50321265 | 50401881 |
a0007 | 0/0 | 163 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | MEKYE others(158): Show |
chr14 | 50321265 | 50401881 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 1071 | 178 | 51 | 41 | 62 | 7 | 16 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0002c0002 | 1/0 | 1071 | 115 | 25 | 26 | 36 | 8 | 19 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0002c0008 | 0/0 | 1071 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0003c0003 | 0/0 | 1071 | 5 | 1 | 3 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0004c0004 | 0/0 | 1071 | 3 | 3 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0005c0005 | 0/0 | 1071 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0006c0006 | 0/0 | 1071 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1066): Show |
chr14 | 50321265 | 50401881 | ||
a0007c0007 | 0/0 | 1051 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | ATGGA others(1046): Show |
chr14 | 50321265 | 50401881 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 5392 | 39 | 5 | 8 | 21 | 1 | 3 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5387): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0002 | 0/0 | 5394 | 19 | 2 | 6 | 9 | 1 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0004 | 0/0 | 5399 | 13 | 0 | 3 | 7 | 1 | 2 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0006 | 0/0 | 5398 | 6 | 1 | 0 | 3 | 1 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0011 | 0/0 | 5395 | 5 | 4 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0013 | 0/0 | 5393 | 4 | 2 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0014 | 0/0 | 5394 | 4 | 0 | 0 | 0 | 0 | 4 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0016 | 0/0 | 5400 | 3 | 2 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0018 | 0/0 | 5391 | 3 | 0 | 1 | 1 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5386): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0019 | 0/0 | 5396 | 3 | 0 | 1 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0020 | 0/0 | 5394 | 3 | 0 | 3 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0023 | 0/0 | 5397 | 3 | 0 | 2 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0025 | 0/0 | 5399 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0027 | 0/0 | 5399 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0032 | 0/0 | 5394 | 2 | 1 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0033 | 0/0 | 5393 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0035 | 0/0 | 5397 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0036 | 0/0 | 5395 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0037 | 0/0 | 5392 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5387): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0043 | 0/0 | 5398 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0044 | 0/0 | 5396 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0046 | 0/0 | 5395 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0047 | 0/0 | 5391 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5386): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0049 | 0/0 | 5393 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0050 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0051 | 0/0 | 5393 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0052 | 0/0 | 5391 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5386): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0054 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0055 | 0/0 | 5402 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0058 | 0/0 | 5402 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0060 | 0/0 | 5398 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0061 | 0/0 | 5399 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0062 | 0/0 | 5399 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0068 | 0/0 | 5402 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0069 | 0/0 | 5399 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0070 | 0/0 | 5395 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0072 | 0/0 | 5400 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0073 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0075 | 0/0 | 5407 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5402): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0076 | 0/0 | 5406 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5401): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0081 | 0/0 | 5401 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0083 | 0/0 | 5400 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0087 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0089 | 0/0 | 5394 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0090 | 0/0 | 5396 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0091 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0092 | 0/0 | 5392 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5387): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0095 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0096 | 0/0 | 5392 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5387): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0097 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0099 | 0/0 | 5393 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0101 | 0/0 | 5389 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5384): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0103 | 0/0 | 5396 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0104 | 0/0 | 5395 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0105 | 0/0 | 5393 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0106 | 0/0 | 5391 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5386): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0107 | 0/0 | 5390 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5385): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0109 | 0/0 | 5398 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0110 | 0/0 | 5401 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0112 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0113 | 0/0 | 5398 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0114 | 0/0 | 5395 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0115 | 0/0 | 5395 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0116 | 0/0 | 5394 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0117 | 0/0 | 5395 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0121 | 0/0 | 5395 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0124 | 0/0 | 5399 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0125 | 0/0 | 5396 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0126 | 0/0 | 5395 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0127 | 0/0 | 5385 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5380): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0128 | 0/0 | 5397 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0129 | 0/0 | 5396 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0131 | 0/0 | 5391 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5386): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0132 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0136 | 0/0 | 5390 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5385): Show |
chr14 | 50321265 | 50401881 |
a0001c0001t0137 | 0/0 | 5397 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0003 | 1/0 | 5402 | 14 | 0 | 1 | 2 | 2 | 8 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0005 | 0/0 | 5357 | 10 | 0 | 0 | 8 | 0 | 2 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5352): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0007 | 0/0 | 5397 | 5 | 4 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0008 | 0/0 | 5394 | 4 | 0 | 3 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0009 | 0/0 | 5357 | 5 | 0 | 0 | 5 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5352): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0010 | 0/0 | 5397 | 5 | 0 | 0 | 5 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0012 | 0/0 | 5401 | 4 | 0 | 1 | 2 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0015 | 0/0 | 5400 | 4 | 3 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0022 | 0/0 | 5398 | 3 | 0 | 0 | 1 | 1 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0024 | 0/0 | 5396 | 3 | 0 | 3 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0026 | 0/0 | 5405 | 2 | 0 | 0 | 0 | 2 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5400): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0028 | 0/0 | 5356 | 2 | 0 | 1 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5351): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0029 | 0/0 | 5399 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0030 | 0/0 | 5394 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0031 | 0/0 | 5394 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0034 | 0/0 | 5396 | 2 | 1 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0038 | 0/0 | 5402 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0039 | 0/0 | 5387 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5382): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0040 | 0/0 | 5400 | 2 | 0 | 1 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0041 | 0/0 | 5398 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0042 | 0/0 | 5397 | 2 | 0 | 1 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0045 | 0/0 | 5405 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5400): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0048 | 0/0 | 5394 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0053 | 0/0 | 5401 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0056 | 0/0 | 5401 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0057 | 0/0 | 5400 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0059 | 0/0 | 5398 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0063 | 0/0 | 5405 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5400): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0064 | 0/0 | 5404 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5399): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0065 | 0/0 | 5403 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5398): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0066 | 0/0 | 5402 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0067 | 0/0 | 5401 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0074 | 0/0 | 5405 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5400): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0077 | 0/0 | 5403 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5398): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0078 | 0/0 | 5402 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0079 | 0/0 | 5403 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5398): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0080 | 0/0 | 5402 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5397): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0082 | 0/0 | 5365 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5360): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0084 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0085 | 0/0 | 5397 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5392): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0086 | 0/0 | 5396 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0088 | 0/0 | 5395 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5390): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0093 | 0/0 | 5390 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5385): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0094 | 0/0 | 5358 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5353): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0098 | 0/0 | 5396 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0100 | 0/0 | 5359 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5354): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0102 | 0/0 | 5398 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0108 | 0/0 | 5399 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0111 | 0/0 | 5396 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5391): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0118 | 0/0 | 5360 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5355): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0119 | 0/0 | 5359 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5354): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0122 | 0/0 | 5400 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5395): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0130 | 0/0 | 5393 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0135 | 0/0 | 5399 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0138 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0139 | 0/0 | 5401 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0002c0002t0140 | 0/0 | 5361 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5356): Show |
chr14 | 50321265 | 50401881 |
a0002c0008t0071 | 0/0 | 5365 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5360): Show |
chr14 | 50321265 | 50401881 |
a0003c0003t0008 | 0/0 | 5394 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5389): Show |
chr14 | 50321265 | 50401881 |
a0003c0003t0017 | 0/0 | 5403 | 3 | 0 | 2 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5398): Show |
chr14 | 50321265 | 50401881 |
a0003c0003t0123 | 0/0 | 5399 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5394): Show |
chr14 | 50321265 | 50401881 |
a0004c0004t0021 | 0/0 | 5393 | 3 | 3 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5388): Show |
chr14 | 50321265 | 50401881 |
a0005c0005t0133 | 0/0 | 5403 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5398): Show |
chr14 | 50321265 | 50401881 |
a0005c0005t0134 | 0/0 | 5401 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5396): Show |
chr14 | 50321265 | 50401881 |
a0006c0006t0120 | 0/0 | 5398 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5393): Show |
chr14 | 50321265 | 50401881 |
a0007c0007t0141 | 0/0 | 5379 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | GAGCT others(5374): Show |
chr14 | 50321265 | 50401881 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0058 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0004g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0237 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0006g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0011g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0011g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0011g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0011g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0011g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0013g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0013g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0013g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0013g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0014g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0014g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0014g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0014g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0016g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0016g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0016g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0018g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0018g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0018g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0019g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0019g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0019g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0020g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0020g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0020g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0023g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0023g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0023g0294 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0025g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0025g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0027g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0027g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0032g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0032g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0033g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0033g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0035g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0035g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0036g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0036g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0037g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0037g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0043g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0043g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0044g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0044g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0046g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0047g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0049g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0050g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0051g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0052g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0054g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0055g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0058g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0060g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0061g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0062g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0068g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0069g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0070g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0072g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0073g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0075g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0076g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0081g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0083g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0087g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0089g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0090g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0091g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0092g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0095g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0096g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0097g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0099g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0101g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0103g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0104g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0105g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0106g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0107g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0109g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0110g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0112g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0113g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0114g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0115g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0116g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0117g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0121g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0124g0254 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0125g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0126g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0127g0264 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0128g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0129g0291 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0131g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0132g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0136g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0001c0001t0137g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0130 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0003g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0005g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0007g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0007g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0007g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0007g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0007g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0008g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0008g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0008g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0009g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0009g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0009g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0009g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0009g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0010g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0010g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0010g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0010g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0010g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0012g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0012g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0012g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0012g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0015g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0015g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0015g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0015g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0022g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0022g0279 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0022g0289 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0024g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0024g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0024g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0026g0236 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0026g0251 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0028g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0028g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0029g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0029g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0030g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0030g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0031g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0031g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0034g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0034g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0038g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0038g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0039g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0039g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0040g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0040g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0041g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0041g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0042g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0042g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0045g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0048g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0053g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0056g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0057g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0059g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0063g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0064g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0065g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0066g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0067g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0074g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0077g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0078g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0079g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0080g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0082g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0084g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0085g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0086g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0088g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0093g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0094g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0098g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0100g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0102g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0108g0190 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0111g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0118g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0119g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0122g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0130g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0135g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0138g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0139g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0002t0140g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0002c0008t0071g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0003c0003t0008g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0003c0003t0017g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0003c0003t0017g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0003c0003t0123g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0004c0004t0021g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0004c0004t0021g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0004c0004t0021g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0005c0005t0133g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0005c0005t0134g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0006c0006t0120g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
a0007c0007t0141g0303 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0079 | EUR | GBR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00099 | hp2 | a0002 | c0002 | t0022 | g0289 | EUR | GBR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00140 | hp1 | a0001 | c0001 | t0006 | g0237 | EUR | GBR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00140 | hp2 | a0002 | c0002 | t0003 | g0114 | EUR | GBR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00280 | hp1 | a0001 | c0001 | t0124 | g0254 | EUR | FIN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00280 | hp2 | a0001 | c0001 | t0127 | g0264 | EUR | FIN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00323 | hp1 | a0002 | c0002 | t0057 | g0110 | EUR | FIN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00323 | hp2 | a0001 | c0001 | t0023 | g0294 | EUR | FIN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00408 | hp2 | a0001 | c0001 | t0004 | g0252 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00423 | hp1 | a0002 | c0002 | t0005 | g0045 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00423 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00438 | hp1 | a0001 | c0001 | t0092 | g0029 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00438 | hp2 | a0001 | c0001 | t0004 | g0121 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00597 | hp2 | a0002 | c0002 | t0003 | g0143 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00609 | hp2 | a0002 | c0002 | t0088 | g0044 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00621 | hp2 | a0002 | c0002 | t0048 | g0105 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00639 | hp1 | a0001 | c0001 | t0002 | g0212 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00639 | hp2 | a0001 | c0001 | t0023 | g0288 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00673 | hp2 | a0002 | c0002 | t0012 | g0147 | EAS | CHS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00733 | hp1 | a0002 | c0002 | t0024 | g0261 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00733 | hp2 | a0002 | c0002 | t0042 | g0282 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00735 | hp1 | a0001 | c0001 | t0019 | g0205 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00735 | hp2 | a0002 | c0002 | t0040 | g0272 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00738 | hp1 | a0001 | c0001 | t0047 | g0234 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00738 | hp2 | a0001 | c0001 | t0002 | g0189 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00741 | hp1 | a0003 | c0003 | t0123 | g0225 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG00741 | hp2 | a0001 | c0001 | t0109 | g0183 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01070 | hp2 | a0002 | c0002 | t0122 | g0229 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0080 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01071 | hp2 | a0002 | c0002 | t0031 | g0168 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01074 | hp2 | a0002 | c0002 | t0015 | g0267 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01081 | hp1 | a0001 | c0001 | t0020 | g0187 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01081 | hp2 | a0001 | c0001 | t0061 | g0126 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01099 | hp1 | a0002 | c0002 | t0080 | g0159 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01099 | hp2 | a0002 | c0002 | t0007 | g0084 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01106 | hp1 | a0001 | c0001 | t0106 | g0210 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01106 | hp2 | a0003 | c0003 | t0017 | g0099 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01109 | hp1 | a0002 | c0002 | t0003 | g0138 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01109 | hp2 | a0001 | c0001 | t0023 | g0274 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01167 | hp1 | a0002 | c0002 | t0039 | g0266 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01167 | hp2 | a0003 | c0003 | t0017 | g0003 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01169 | hp1 | a0002 | c0002 | t0063 | g0119 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01169 | hp2 | a0002 | c0002 | t0039 | g0265 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01175 | hp1 | a0001 | c0001 | t0113 | g0207 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01175 | hp2 | a0002 | c0002 | t0077 | g0156 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01192 | hp1 | a0001 | c0001 | t0004 | g0127 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01192 | hp2 | a0002 | c0002 | t0031 | g0167 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01243 | hp1 | a0001 | c0001 | t0131 | g0269 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01243 | hp2 | a0001 | c0001 | t0002 | g0222 | AMR | PUR | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01256 | hp1 | a0001 | c0001 | t0002 | g0181 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01256 | hp2 | a0002 | c0002 | t0024 | g0260 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01257 | hp1 | a0002 | c0002 | t0008 | g0088 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01257 | hp2 | a0001 | c0001 | t0107 | g0175 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01258 | hp1 | a0002 | c0002 | t0024 | g0262 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01258 | hp2 | a0002 | c0002 | t0008 | g0002 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01261 | hp1 | a0001 | c0001 | t0011 | g0285 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01261 | hp2 | a0001 | c0001 | t0103 | g0004 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01346 | hp1 | a0001 | c0001 | t0126 | g0268 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01346 | hp2 | a0002 | c0002 | t0086 | g0087 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01361 | hp1 | a0001 | c0001 | t0004 | g0144 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01361 | hp2 | a0001 | c0001 | t0025 | g0101 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01433 | hp1 | a0001 | c0001 | t0052 | g0107 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01433 | hp2 | a0001 | c0001 | t0025 | g0102 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01496 | hp1 | a0001 | c0001 | t0020 | g0186 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01496 | hp2 | a0002 | c0002 | t0102 | g0005 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01515 | hp1 | a0002 | c0002 | t0026 | g0236 | EUR | IBS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01515 | hp2 | a0003 | c0003 | t0017 | g0003 | EUR | IBS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01517 | hp1 | a0002 | c0002 | t0026 | g0251 | EUR | IBS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01517 | hp2 | a0002 | c0002 | t0108 | g0190 | EUR | IBS | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01884 | hp1 | a0001 | c0001 | t0110 | g0219 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01884 | hp2 | a0002 | c0002 | t0038 | g0283 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01891 | hp1 | a0006 | c0006 | t0120 | g0221 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01891 | hp2 | a0001 | c0001 | t0051 | g0108 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01928 | hp1 | a0002 | c0002 | t0078 | g0157 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01928 | hp2 | a0001 | c0001 | t0101 | g0098 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01934 | hp2 | a0002 | c0002 | t0100 | g0097 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01943 | hp1 | a0001 | c0001 | t0089 | g0023 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01943 | hp2 | a0001 | c0001 | t0125 | g0263 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01978 | hp2 | a0001 | c0001 | t0020 | g0177 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01981 | hp1 | a0002 | c0002 | t0064 | g0137 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01981 | hp2 | a0001 | c0001 | t0002 | g0203 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01993 | hp1 | a0001 | c0001 | t0018 | g0007 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01993 | hp2 | a0002 | c0002 | t0028 | g0009 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02004 | hp1 | a0002 | c0002 | t0008 | g0002 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02015 | hp1 | a0001 | c0001 | t0006 | g0244 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02015 | hp2 | a0002 | c0002 | t0012 | g0124 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02027 | hp1 | a0001 | c0001 | t0027 | g0247 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02027 | hp2 | a0002 | c0002 | t0074 | g0163 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02040 | hp1 | a0001 | c0001 | t0002 | g0223 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02055 | hp1 | a0002 | c0002 | t0015 | g0271 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02055 | hp2 | a0001 | c0001 | t0091 | g0074 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02074 | hp1 | a0002 | c0002 | t0082 | g0162 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02074 | hp2 | a0001 | c0001 | t0036 | g0230 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02083 | hp1 | a0002 | c0002 | t0030 | g0090 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02083 | hp2 | a0001 | c0001 | t0033 | g0095 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02129 | hp2 | a0002 | c0002 | t0003 | g0141 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02132 | hp1 | a0001 | c0001 | t0002 | g0196 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02132 | hp2 | a0001 | c0001 | t0002 | g0209 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02145 | hp1 | a0001 | c0001 | t0043 | g0292 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02145 | hp2 | a0002 | c0002 | t0045 | g0103 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02155 | hp1 | a0001 | c0001 | t0002 | g0208 | EAS | CDX | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02155 | hp2 | a0001 | c0001 | t0002 | g0195 | EAS | CDX | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02165 | hp1 | a0002 | c0002 | t0005 | g0071 | EAS | CDX | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | CDX | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02258 | hp1 | a0001 | c0001 | t0137 | g0299 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02273 | hp2 | a0001 | c0001 | t0004 | g0125 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02280 | hp1 | a0002 | c0008 | t0071 | g0115 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02280 | hp2 | a0002 | c0002 | t0029 | g0068 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02293 | hp1 | a0001 | c0001 | t0002 | g0174 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02293 | hp2 | a0002 | c0002 | t0012 | g0122 | AMR | PEL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02451 | hp1 | a0001 | c0001 | t0035 | g0226 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02451 | hp2 | a0001 | c0001 | t0011 | g0281 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02523 | hp1 | a0001 | c0001 | t0027 | g0240 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02523 | hp2 | a0001 | c0001 | t0006 | g0241 | EAS | KHV | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02602 | hp1 | a0002 | c0002 | t0003 | g0131 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0078 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02615 | hp1 | a0001 | c0001 | t0062 | g0149 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02622 | hp1 | a0002 | c0002 | t0007 | g0053 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02622 | hp2 | a0001 | c0001 | t0035 | g0227 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02630 | hp1 | a0001 | c0001 | t0054 | g0245 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02630 | hp2 | a0001 | c0001 | t0104 | g0006 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02647 | hp1 | a0002 | c0002 | t0029 | g0020 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02647 | hp2 | a0001 | c0001 | t0075 | g0154 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02683 | hp1 | a0002 | c0002 | t0003 | g0132 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02683 | hp2 | a0001 | c0001 | t0002 | g0173 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02698 | hp1 | a0002 | c0002 | t0003 | g0133 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02698 | hp2 | a0001 | c0001 | t0014 | g0180 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02717 | hp2 | a0002 | c0002 | t0007 | g0055 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02723 | hp1 | a0001 | c0001 | t0011 | g0270 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02723 | hp2 | a0002 | c0002 | t0139 | g0302 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02735 | hp1 | a0001 | c0001 | t0018 | g0011 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02735 | hp2 | a0002 | c0002 | t0022 | g0279 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02809 | hp1 | a0001 | c0001 | t0016 | g0112 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02809 | hp2 | a0005 | c0005 | t0133 | g0255 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02818 | hp1 | a0002 | c0002 | t0130 | g0295 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02818 | hp2 | a0002 | c0002 | t0084 | g0054 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02895 | hp1 | a0002 | c0002 | t0007 | g0031 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02895 | hp2 | a0001 | c0001 | t0013 | g0072 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02922 | hp1 | a0001 | c0001 | t0068 | g0151 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02922 | hp2 | a0001 | c0001 | t0032 | g0094 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02965 | hp1 | a0001 | c0001 | t0049 | g0106 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02965 | hp2 | a0001 | c0001 | t0016 | g0113 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02970 | hp1 | a0001 | c0001 | t0002 | g0211 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02970 | hp2 | a0002 | c0002 | t0093 | g0033 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02976 | hp1 | a0001 | c0001 | t0097 | g0166 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0042 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0083 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03017 | hp2 | a0002 | c0002 | t0003 | g0145 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03098 | hp1 | a0002 | c0002 | t0138 | g0300 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03098 | hp2 | a0002 | c0002 | t0066 | g0233 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03130 | hp1 | a0001 | c0001 | t0076 | g0155 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03130 | hp2 | a0002 | c0002 | t0135 | g0257 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03139 | hp1 | a0001 | c0001 | t0096 | g0165 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03139 | hp2 | a0001 | c0001 | t0006 | g0249 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03195 | hp1 | a0004 | c0004 | t0021 | g0218 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03195 | hp2 | a0001 | c0001 | t0087 | g0069 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03209 | hp1 | a0001 | c0001 | t0112 | g0172 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03209 | hp2 | a0002 | c0002 | t0038 | g0286 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03239 | hp1 | a0002 | c0002 | t0012 | g0123 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03239 | hp2 | a0001 | c0001 | t0070 | g0117 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03453 | hp1 | a0001 | c0001 | t0132 | g0297 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03453 | hp2 | a0001 | c0001 | t0044 | g0258 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03486 | hp1 | a0001 | c0001 | t0050 | g0109 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03486 | hp2 | a0005 | c0005 | t0134 | g0256 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03491 | hp1 | a0002 | c0002 | t0003 | g0118 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03491 | hp2 | a0001 | c0001 | t0014 | g0179 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03492 | hp1 | a0001 | c0001 | t0014 | g0206 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03492 | hp2 | a0002 | c0002 | t0111 | g0188 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03516 | hp1 | a0001 | c0001 | t0044 | g0259 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03516 | hp2 | a0001 | c0001 | t0073 | g0152 | AFR | ESN | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03540 | hp1 | a0002 | c0002 | t0015 | g0290 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03540 | hp2 | a0001 | c0001 | t0011 | g0296 | AFR | GWD | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03579 | hp1 | a0001 | c0001 | t0136 | g0298 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03579 | hp2 | a0001 | c0001 | t0121 | g0224 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03654 | hp1 | a0002 | c0002 | t0079 | g0158 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0039 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03669 | hp1 | a0002 | c0002 | t0003 | g0146 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03669 | hp2 | a0002 | c0002 | t0005 | g0089 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03688 | hp1 | a0007 | c0007 | t0141 | g0303 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03688 | hp2 | a0002 | c0002 | t0040 | g0280 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03704 | hp1 | a0001 | c0001 | t0006 | g0250 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03704 | hp2 | a0002 | c0002 | t0053 | g0235 | SAS | PJL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03831 | hp1 | a0001 | c0001 | t0032 | g0092 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03831 | hp2 | a0002 | c0002 | t0003 | g0136 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03834 | hp1 | a0001 | c0001 | t0116 | g0176 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03834 | hp2 | a0002 | c0002 | t0008 | g0051 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04184 | hp1 | a0001 | c0001 | t0115 | g0170 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04184 | hp2 | a0002 | c0002 | t0003 | g0140 | SAS | BEB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04204 | hp1 | a0001 | c0001 | t0004 | g0134 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04204 | hp2 | a0001 | c0001 | t0014 | g0182 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04228 | hp1 | a0002 | c0002 | t0065 | g0135 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG04228 | hp2 | a0001 | c0001 | t0004 | g0116 | SAS | STU | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18522 | hp1 | a0002 | c0002 | t0041 | g0276 | AFR | YRI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18522 | hp2 | a0002 | c0002 | t0056 | g0248 | AFR | YRI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | CHB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18612 | hp2 | a0002 | c0002 | t0005 | g0046 | EAS | CHB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18939 | hp1 | a0001 | c0001 | t0013 | g0064 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18939 | hp2 | a0002 | c0002 | t0119 | g0216 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18944 | hp2 | a0001 | c0001 | t0006 | g0243 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18951 | hp1 | a0001 | c0001 | t0016 | g0246 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18951 | hp2 | a0001 | c0001 | t0019 | g0202 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18953 | hp1 | a0002 | c0002 | t0009 | g0059 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18957 | hp1 | a0002 | c0002 | t0005 | g0070 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18957 | hp2 | a0001 | c0001 | t0002 | g0214 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18959 | hp1 | a0001 | c0001 | t0099 | g0093 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18959 | hp2 | a0001 | c0001 | t0037 | g0232 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18960 | hp1 | a0001 | c0001 | t0019 | g0185 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18960 | hp2 | a0001 | c0001 | t0055 | g0239 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18963 | hp1 | a0002 | c0002 | t0010 | g0197 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18963 | hp2 | a0002 | c0002 | t0022 | g0278 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18964 | hp2 | a0001 | c0001 | t0002 | g0215 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18971 | hp1 | a0002 | c0002 | t0010 | g0199 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18971 | hp2 | a0002 | c0002 | t0009 | g0047 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18974 | hp1 | a0001 | c0001 | t0004 | g0148 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18974 | hp2 | a0001 | c0001 | t0002 | g0184 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18981 | hp1 | a0001 | c0001 | t0004 | g0253 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18981 | hp2 | a0002 | c0002 | t0034 | g0201 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18983 | hp1 | a0001 | c0001 | t0002 | g0178 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18986 | hp1 | a0002 | c0002 | t0009 | g0035 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18986 | hp2 | a0001 | c0001 | t0004 | g0150 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18988 | hp2 | a0002 | c0002 | t0042 | g0277 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18989 | hp1 | a0002 | c0002 | t0005 | g0067 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18989 | hp2 | a0001 | c0001 | t0081 | g0161 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18990 | hp2 | a0002 | c0002 | t0005 | g0036 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18997 | hp1 | a0001 | c0001 | t0105 | g0169 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18997 | hp2 | a0002 | c0002 | t0009 | g0037 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18998 | hp1 | a0001 | c0001 | t0004 | g0129 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA18998 | hp2 | a0002 | c0002 | t0030 | g0018 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19002 | hp1 | a0001 | c0001 | t0004 | g0120 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19002 | hp2 | a0002 | c0002 | t0028 | g0008 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19004 | hp1 | a0001 | c0001 | t0033 | g0096 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19004 | hp2 | a0002 | c0002 | t0059 | g0238 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19005 | hp1 | a0001 | c0001 | t0069 | g0128 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19011 | hp1 | a0002 | c0002 | t0005 | g0050 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19011 | hp2 | a0001 | c0001 | t0036 | g0228 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19030 | hp2 | a0002 | c0002 | t0015 | g0284 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19043 | hp1 | a0002 | c0002 | t0118 | g0171 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19043 | hp2 | a0001 | c0001 | t0128 | g0287 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19054 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19054 | hp2 | a0002 | c0002 | t0010 | g0200 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19067 | hp1 | a0001 | c0001 | t0013 | g0061 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19067 | hp2 | a0002 | c0002 | t0009 | g0015 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19068 | hp1 | a0002 | c0002 | t0010 | g0194 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19072 | hp1 | a0001 | c0001 | t0117 | g0213 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19072 | hp2 | a0001 | c0001 | t0018 | g0010 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19081 | hp1 | a0001 | c0001 | t0060 | g0242 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19081 | hp2 | a0002 | c0002 | t0098 | g0091 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19087 | hp1 | a0002 | c0002 | t0005 | g0048 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19087 | hp2 | a0001 | c0001 | t0037 | g0231 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19091 | hp1 | a0002 | c0002 | t0094 | g0066 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19091 | hp2 | a0002 | c0002 | t0010 | g0198 | EAS | JPT | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19240 | hp1 | a0002 | c0002 | t0140 | g0301 | AFR | YRI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA19240 | hp2 | a0004 | c0004 | t0021 | g0220 | AFR | YRI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20129 | hp1 | a0002 | c0002 | t0041 | g0275 | AFR | ASW | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20129 | hp2 | a0003 | c0003 | t0008 | g0075 | AFR | ASW | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20752 | hp1 | a0002 | c0002 | t0003 | g0142 | EUR | TSI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20752 | hp2 | a0001 | c0001 | t0002 | g0192 | EUR | TSI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20805 | hp1 | a0001 | c0001 | t0004 | g0139 | EUR | TSI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20805 | hp2 | a0002 | c0002 | t0067 | g0100 | EUR | TSI | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20905 | hp1 | a0002 | c0002 | t0005 | g0085 | SAS | GIH | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20905 | hp2 | a0002 | c0002 | t0085 | g0082 | SAS | GIH | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG01123 | hp2 | a0001 | c0001 | t0083 | g0160 | AMR | CLM | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02109 | hp1 | a0001 | c0001 | t0058 | g0111 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02109 | hp2 | a0001 | c0001 | t0043 | g0273 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02486 | hp1 | a0001 | c0001 | t0129 | g0291 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02486 | hp2 | a0001 | c0001 | t0114 | g0191 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02559 | hp1 | a0002 | c0002 | t0007 | g0056 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG02559 | hp2 | a0004 | c0004 | t0021 | g0217 | AFR | ACB | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03471 | hp1 | a0001 | c0001 | t0013 | g0043 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG03471 | hp2 | a0001 | c0001 | t0090 | g0063 | AFR | MSL | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG06807 | hp1 | a0001 | c0001 | t0046 | g0104 | AFR | USA | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
HG06807 | hp2 | a0001 | c0001 | t0072 | g0153 | AFR | USA | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20300 | hp1 | a0002 | c0002 | t0034 | g0204 | AFR | USA | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA20300 | hp2 | a0001 | c0001 | t0095 | g0164 | AFR | USA | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA21309 | hp1 | a0001 | c0001 | t0002 | g0193 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
NA21309 | hp2 | a0001 | c0001 | t0011 | g0293 | AFR | LWK | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0058 | REF | REF | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
homoSapiens | grch38p0 | a0002 | c0002 | t0003 | g0130 | REF | REF | CDKL1_chr14_50321265_50401881 | CDKL1 | chr14 | 50321265 | 50401881 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:50330163 | G | C | 1 | a0003 | 5 | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(2): Show |
missense_variant | MODERATE | c.985C>G | p.Leu329Val | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1504/5402 | 985/1074 | 329/357 | chr14 | 50330163 | |||
chr14:50332300 | T | C | 1 | a0006 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.928A>G | p.Lys310Glu | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/10 | 1447/5402 | 928/1074 | 310/357 | chr14 | 50332300 | |||
chr14:50332327 | T | C | 2 | a0004 a0006 |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
missense_variant | MODERATE | c.901A>G | p.Asn301Asp | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/10 | 1420/5402 | 901/1074 | 301/357 | chr14 | 50332327 | |||
chr14:50332408 | G | C | 5 | a0001 a0004 a0005 others(2): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(181): Show |
missense_variant | MODERATE | c.820C>G | p.Gln274Glu | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/10 | 1339/5402 | 820/1074 | 274/357 | chr14 | 50332408 | |||
chr14:50341200 | CCACGTAG others(13): Show |
C | 1 | a0007 | 1 | HG03688.hp1 | frameshift_variant | HIGH | c.467_486delACTACTAT others(12): Show |
p.Asp156fs | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/10 | 1005/5402 | 467/1074 | 156/357 | chr14 | 50341200 | |||
chr14:50395745 | G | A | 1 | a0005 | 2 | HG02809.hp2 HG03486.hp2 |
missense_variant | MODERATE | c.124C>T | p.Pro42Ser | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 643/5402 | 124/1074 | 42/357 | chr14 | 50395745 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:50342172 | G | A | 1 | a0002c0008 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.414C>T | p.Ser138Ser | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/10 | 933/5402 | 414/1074 | 138/357 | chr14 | 50342172 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:50326307 | A | G | 9 | a0001c0001t0046 a0001c0001t0058 a0001c0001t0075 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*3767T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3767 | chr14 | 50326307 | ||||||
chr14:50326516 | C | T | 1 | a0002c0002t0009 | 5 | NA18953.hp1 NA18971.hp2 NA18986.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3558G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3558 | chr14 | 50326516 | ||||||
chr14:50326596 | T | G | 5 | a0001c0001t0068 a0001c0001t0103 a0001c0001t0132 others(2): Show |
5 | HG01261.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3478A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3478 | chr14 | 50326596 | ||||||
chr14:50326666 | T | A | 14 | a0002c0002t0007 a0002c0002t0015 a0002c0002t0026 others(11): Show |
26 | HG01070.hp2 HG01074.hp2 HG01099.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*3408A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3408 | chr14 | 50326666 | ||||||
chr14:50326724 | T | C | 1 | a0002c0002t0138 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3350A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3350 | chr14 | 50326724 | ||||||
chr14:50326772 | G | A | 1 | a0004c0004t0021 | 3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3302C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 3302 | chr14 | 50326772 | ||||||
chr14:50327096 | G | A | 79 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
3_prime_UTR_variant | MODIFIER | c.*2978C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2978 | chr14 | 50327096 | ||||||
chr14:50327103 | AGATCATT others(20): Show |
A | 10 | a0002c0002t0005 a0002c0002t0009 a0002c0002t0028 others(7): Show |
24 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*2944_*2970delGTCC others(23): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2944 | chr14 | 50327103 | ||||||
chr14:50327200 | T | C | 1 | a0002c0002t0024 | 3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2874A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2874 | chr14 | 50327200 | ||||||
chr14:50327330 | G | A | 8 | a0002c0002t0005 a0002c0002t0009 a0002c0002t0028 others(5): Show |
22 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*2744C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2744 | chr14 | 50327330 | ||||||
chr14:50327334 | CA | C | 77 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(74): Show |
178 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(175): Show |
3_prime_UTR_variant | MODIFIER | c.*2739delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2739 | chr14 | 50327334 | ||||||
chr14:50327408 | A | G | 1 | a0001c0001t0060 | 1 | NA19081.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2666T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2666 | chr14 | 50327408 | ||||||
chr14:50327423 | C | T | 1 | a0001c0001t0060 | 1 | NA19081.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2651G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2651 | chr14 | 50327423 | ||||||
chr14:50327459 | CT | C | 39 | a0001c0001t0013 a0001c0001t0027 a0001c0001t0032 others(36): Show |
59 | HG00323.hp1 HG00621.hp2 HG00673.hp2 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*2614delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2614 | chr14 | 50327459 | ||||||
chr14:50327459 | CTT | C | 70 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(67): Show |
165 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
3_prime_UTR_variant | MODIFIER | c.*2613_*2614delAA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2613 | chr14 | 50327459 | ||||||
chr14:50327459 | CTTT | C | 6 | a0002c0002t0005 a0002c0002t0009 a0002c0002t0028 others(3): Show |
20 | HG00423.hp1 HG01993.hp2 HG02074.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*2612_*2614delAAA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2612 | chr14 | 50327459 | ||||||
chr14:50327459 | CTTTTTTT others(6): Show |
C | 1 | a0002c0002t0039 | 2 | HG01167.hp1 HG01169.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2602_*2614delAAAA others(9): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2602 | chr14 | 50327459 | ||||||
chr14:50327519 | G | A | 1 | a0001c0001t0116 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2555C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2555 | chr14 | 50327519 | ||||||
chr14:50327585 | G | A | 1 | a0001c0001t0092 | 1 | HG00438.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2489C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2489 | chr14 | 50327585 | ||||||
chr14:50327622 | G | A | 9 | a0001c0001t0046 a0001c0001t0058 a0001c0001t0075 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*2452C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2452 | chr14 | 50327622 | ||||||
chr14:50327743 | G | A | 10 | a0002c0002t0012 a0002c0002t0030 a0002c0002t0034 others(7): Show |
15 | HG00621.hp2 HG00673.hp2 HG01099.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2331C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2331 | chr14 | 50327743 | ||||||
chr14:50327823 | A | G | 1 | a0001c0001t0099 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2251T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2251 | chr14 | 50327823 | ||||||
chr14:50327834 | C | T | 1 | a0004c0004t0021 | 3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2240G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2240 | chr14 | 50327834 | ||||||
chr14:50328001 | T | C | 1 | a0002c0002t0138 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2073A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2073 | chr14 | 50328001 | ||||||
chr14:50328228 | A | T | 1 | a0001c0001t0020 | 3 | HG01081.hp1 HG01496.hp1 HG01978.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1846T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1846 | chr14 | 50328228 | ||||||
chr14:50328350 | A | C | 109 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(106): Show |
240 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(237): Show |
3_prime_UTR_variant | MODIFIER | c.*1724T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1724 | chr14 | 50328350 | ||||||
chr14:50328459 | C | T | 79 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
3_prime_UTR_variant | MODIFIER | c.*1615G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1615 | chr14 | 50328459 | ||||||
chr14:50328708 | G | A | 1 | a0001c0001t0117 | 1 | NA19072.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1366C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1366 | chr14 | 50328708 | ||||||
chr14:50328772 | G | A | 79 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
3_prime_UTR_variant | MODIFIER | c.*1302C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1302 | chr14 | 50328772 | ||||||
chr14:50328778 | C | G | 1 | a0001c0001t0099 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1296G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1296 | chr14 | 50328778 | ||||||
chr14:50328784 | G | A | 1 | a0001c0001t0069 | 1 | NA19005.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1290C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1290 | chr14 | 50328784 | ||||||
chr14:50328900 | C | G | 109 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(106): Show |
240 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(237): Show |
3_prime_UTR_variant | MODIFIER | c.*1174G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1174 | chr14 | 50328900 | ||||||
chr14:50328906 | T | TTA | 10 | a0001c0001t0046 a0001c0001t0058 a0001c0001t0075 others(7): Show |
10 | HG01175.hp1 HG01884.hp1 HG02109.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1166_*1167dupTA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1167 | chr14 | 50328906 | ||||||
chr14:50328921 | A | T | 1 | a0001c0001t0099 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1153T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1153 | chr14 | 50328921 | ||||||
chr14:50328928 | C | CAT | 1 | a0004c0004t0021 | 3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1144_*1145dupAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1145 | chr14 | 50328928 | ||||||
chr14:50328928 | C | CATAT | 61 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(58): Show |
158 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(155): Show |
3_prime_UTR_variant | MODIFIER | c.*1142_*1145dupATAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1145 | chr14 | 50328928 | ||||||
chr14:50328928 | C | CATATAT | 13 | a0001c0001t0023 a0001c0001t0035 a0001c0001t0043 others(10): Show |
17 | HG00323.hp2 HG00639.hp2 HG01109.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1140_*1145dupATAT others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1145 | chr14 | 50328928 | ||||||
chr14:50328941 | G | A | 1 | a0006c0006t0120 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1133C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1133 | chr14 | 50328941 | ||||||
chr14:50328954 | A | G | 1 | a0006c0006t0120 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1120T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1120 | chr14 | 50328954 | ||||||
chr14:50329036 | C | CAT | 16 | a0002c0002t0007 a0002c0002t0015 a0002c0002t0039 others(13): Show |
27 | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*1036_*1037dupAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1037 | chr14 | 50329036 | ||||||
chr14:50329036 | C | CATAT | 7 | a0002c0002t0026 a0002c0002t0029 a0002c0002t0038 others(4): Show |
10 | HG01169.hp1 HG01515.hp1 HG01517.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1034_*1037dupATAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1037 | chr14 | 50329036 | ||||||
chr14:50329036 | CAT | C | 13 | a0001c0001t0016 a0001c0001t0019 a0001c0001t0058 others(10): Show |
19 | HG00733.hp1 HG00735.hp1 HG01256.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1036_*1037delAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1036 | chr14 | 50329036 | ||||||
chr14:50329036 | CATAT | C | 61 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(58): Show |
158 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(155): Show |
3_prime_UTR_variant | MODIFIER | c.*1034_*1037delATAT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1034 | chr14 | 50329036 | ||||||
chr14:50329036 | CATATAT | C | 3 | a0001c0001t0052 a0001c0001t0073 a0004c0004t0021 |
5 | HG01433.hp1 HG02559.hp2 HG03195.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1032_*1037delATAT others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1032 | chr14 | 50329036 | ||||||
chr14:50329036 | CATATATA others(1): Show |
C | 10 | a0002c0002t0005 a0002c0002t0009 a0002c0002t0028 others(7): Show |
24 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*1030_*1037delATAT others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1030 | chr14 | 50329036 | ||||||
chr14:50329056 | TATATATA others(7): Show |
T | 1 | a0001c0001t0127 | 1 | HG00280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1004_*1017delGTGT others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1004 | chr14 | 50329056 | ||||||
chr14:50329062 | T | C | 1 | a0002c0002t0012 | 1 | HG02293.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1012A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1012 | chr14 | 50329062 | ||||||
chr14:50329151 | A | G | 1 | a0001c0001t0127 | 1 | HG00280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*923T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 923 | chr14 | 50329151 | ||||||
chr14:50329480 | T | C | 2 | a0004c0004t0021 a0006c0006t0120 |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*594A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 594 | chr14 | 50329480 | ||||||
chr14:50329490 | A | G | 8 | a0001c0001t0044 a0001c0001t0049 a0001c0001t0062 others(5): Show |
9 | HG02615.hp1 HG02965.hp1 HG03139.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*584T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 584 | chr14 | 50329490 | ||||||
chr14:50329682 | C | T | 1 | a0001c0001t0054 | 1 | HG02630.hp1 | 3_prime_UTR_variant | MODIFIER | c.*392G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 392 | chr14 | 50329682 | ||||||
chr14:50329777 | A | G | 5 | a0001c0001t0014 a0001c0001t0061 a0001c0001t0106 others(2): Show |
8 | HG01081.hp2 HG01106.hp1 HG01257.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*297T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 297 | chr14 | 50329777 | ||||||
chr14:50329802 | T | G | 1 | a0001c0001t0083 | 1 | HG01123.hp2 | 3_prime_UTR_variant | MODIFIER | c.*272A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 272 | chr14 | 50329802 | ||||||
chr14:50330043 | T | G | 1 | a0006c0006t0120 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*31A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 31 | chr14 | 50330043 | ||||||
chr14:50396015 | T | C | 1 | a0001c0001t0101 | 1 | HG01928.hp2 | 5_prime_UTR_variant | MODIFIER | c.-147A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 147 | chr14 | 50396015 | ||||||
chr14:50396041 | C | T | 29 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(26): Show |
97 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(94): Show |
5_prime_UTR_variant | MODIFIER | c.-173G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 173 | chr14 | 50396041 | ||||||
chr14:50396074 | A | T | 97 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(94): Show |
220 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(217): Show |
5_prime_UTR_variant | MODIFIER | c.-206T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 206 | chr14 | 50396074 | ||||||
chr14:50396185 | C | CA | 12 | a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 others(9): Show |
12 | HG01099.hp1 HG01123.hp2 HG01175.hp2 others(9): Show |
5_prime_UTR_variant | MODIFIER | c.-318dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CA | C | 11 | a0001c0001t0006 a0001c0001t0016 a0001c0001t0027 others(8): Show |
20 | HG00140.hp1 HG00323.hp1 HG01515.hp1 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-318delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAA | C | 6 | a0001c0001t0044 a0001c0001t0132 a0002c0002t0024 others(3): Show |
9 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
5_prime_UTR_variant | MODIFIER | c.-320_-318delTTT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAA | C | 22 | a0001c0001t0011 a0001c0001t0023 a0001c0001t0035 others(19): Show |
41 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(38): Show |
5_prime_UTR_variant | MODIFIER | c.-321_-318delTTTT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAAA | C | 24 | a0001c0001t0002 a0001c0001t0014 a0001c0001t0019 others(21): Show |
56 | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(53): Show |
5_prime_UTR_variant | MODIFIER | c.-322_-318delTTTTT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAAAA | C | 15 | a0001c0001t0032 a0001c0001t0033 a0001c0001t0049 others(12): Show |
17 | HG01261.hp2 HG01433.hp1 HG01496.hp2 others(14): Show |
5_prime_UTR_variant | MODIFIER | c.-323_-318delTTTTTT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAAAAA | C | 26 | a0001c0001t0001 a0001c0001t0013 a0001c0001t0037 others(23): Show |
90 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(87): Show |
5_prime_UTR_variant | MODIFIER | c.-324_-318delTTTTTT others(1): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAAAAA others(1): Show |
C | 3 | a0001c0001t0018 a0001c0001t0047 a0002c0002t0028 |
6 | HG00738.hp1 HG01993.hp1 HG01993.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-325_-318delTTTTTT others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396185 | CAAAAAAA others(3): Show |
C | 2 | a0001c0001t0046 a0001c0001t0136 |
2 | HG03579.hp1 HG06807.hp1 |
5_prime_UTR_variant | MODIFIER | c.-327_-318delTTTTTT others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | 50396185 | ||||||
chr14:50396186 | A | C | 1 | a0002c0002t0066 | 1 | HG03098.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-318T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | chr14 | 50396186 | |||||||
chr14:50396204 | A | G | 2 | a0001c0001t0044 a0002c0002t0135 |
3 | HG03130.hp2 HG03453.hp2 HG03516.hp1 |
5_prime_UTR_variant | MODIFIER | c.-336T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 336 | chr14 | 50396204 | ||||||
chr14:50396206 | A | G | 20 | a0001c0001t0011 a0001c0001t0023 a0001c0001t0043 others(17): Show |
37 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(34): Show |
5_prime_UTR_variant | MODIFIER | c.-338T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 338 | chr14 | 50396206 | ||||||
chr14:50396210 | A | G | 38 | a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(35): Show |
60 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(57): Show |
5_prime_UTR_variant | MODIFIER | c.-342T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 342 | chr14 | 50396210 | ||||||
chr14:50396222 | G | T | 2 | a0001c0001t0025 a0002c0002t0045 |
3 | HG01361.hp2 HG01433.hp2 HG02145.hp2 |
5_prime_UTR_variant | MODIFIER | c.-354C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 354 | chr14 | 50396222 | ||||||
chr14:50396249 | G | A | 1 | a0001c0001t0037 | 2 | NA18959.hp2 NA19087.hp2 |
5_prime_UTR_variant | MODIFIER | c.-381C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 381 | chr14 | 50396249 | ||||||
chr14:50396275 | T | C | 65 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(62): Show |
168 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(165): Show |
5_prime_UTR_variant | MODIFIER | c.-407A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 407 | chr14 | 50396275 | ||||||
chr14:50396842 | G | A | 29 | a0001c0001t0011 a0001c0001t0023 a0001c0001t0043 others(26): Show |
49 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(46): Show |
5_prime_UTR_variant | MODIFIER | c.-480C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/10 | 974 | chr14 | 50396842 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:50330224 | G | T | 1 | a0001c0001t0052g0107 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.967-43C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50330224 | |||||||
chr14:50330226 | A | C | 1 | a0006c0006t0120g0221 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.967-45T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50330226 | |||||||
chr14:50330538 | TAAAC | T | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.967-361_967-358del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50330538 | |||||||
chr14:50330809 | A | G | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.967-628T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50330809 | |||||||
chr14:50330888 | C | T | 9 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0075g0154 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.967-707G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50330888 | |||||||
chr14:50331037 | C | T | 1 | a0002c0002t0007g0055 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.967-856G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331037 | |||||||
chr14:50331104 | A | G | 204 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(201): Show |
205 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.967-923T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331104 | |||||||
chr14:50331175 | G | A | 170 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(167): Show |
171 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.967-994C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331175 | |||||||
chr14:50331177 | G | A | 1 | a0002c0002t0005g0089 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.967-996C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331177 | |||||||
chr14:50331210 | G | A | 1 | a0002c0002t0084g0054 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.967-1029C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331210 | |||||||
chr14:50331214 | C | T | 1 | a0001c0001t0001g0017 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.967-1033G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331214 | |||||||
chr14:50331227 | A | G | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+1035T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331227 | |||||||
chr14:50331269 | A | G | 1 | a0002c0002t0005g0046 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.966+993T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331269 | |||||||
chr14:50331319 | A | G | 143 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(140): Show |
144 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.966+943T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331319 | |||||||
chr14:50331515 | T | C | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+747A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331515 | |||||||
chr14:50331756 | T | C | 1 | a0001c0001t0044g0258 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.966+506A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331756 | |||||||
chr14:50331797 | C | T | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.966+465G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331797 | |||||||
chr14:50331838 | C | G | 2 | a0002c0002t0005g0036 a0002c0002t0005g0048 |
2 | NA18990.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.966+424G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331838 | |||||||
chr14:50331882 | G | A | 1 | a0001c0001t0002g0196 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.966+380C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331882 | |||||||
chr14:50331947 | C | T | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.966+315G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50331947 | |||||||
chr14:50332024 | T | C | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+238A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50332024 | |||||||
chr14:50332025 | G | A | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.966+237C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50332025 | |||||||
chr14:50332138 | C | G | 1 | a0001c0001t0095g0164 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.966+124G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50332138 | |||||||
chr14:50332251 | C | G | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.966+11G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 9/9 | chr14 | 50332251 | |||||||
chr14:50332451 | CCTT | C | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.796-22_796-20delAA others(1): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332451 | |||||||
chr14:50332519 | A | ACT | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.796-89_796-88dupAG | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332519 | |||||||
chr14:50332620 | T | C | 183 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(180): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.796-188A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332620 | |||||||
chr14:50332761 | T | C | 1 | a0002c0002t0040g0272 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.796-329A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332761 | |||||||
chr14:50332804 | A | T | 5 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(2): Show |
5 | HG01261.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.796-372T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332804 | |||||||
chr14:50332850 | C | T | 24 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(21): Show |
24 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.796-418G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332850 | |||||||
chr14:50332897 | C | G | 1 | a0002c0002t0140g0301 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.796-465G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332897 | |||||||
chr14:50332903 | CT | C | 47 | a0001c0001t0016g0246 a0001c0001t0019g0202 a0001c0001t0023g0274 others(44): Show |
47 | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(44): Show |
intron_variant | MODIFIER | c.796-472delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332903 | |||||||
chr14:50332903 | CTT | C | 162 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(159): Show |
163 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(160): Show |
intron_variant | MODIFIER | c.796-473_796-472del others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332903 | |||||||
chr14:50332925 | G | C | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.796-493C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332925 | |||||||
chr14:50332954 | T | C | 25 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(22): Show |
25 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(22): Show |
intron_variant | MODIFIER | c.796-522A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332954 | |||||||
chr14:50332993 | C | T | 180 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(177): Show |
181 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.796-561G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50332993 | |||||||
chr14:50333067 | ATAGAT | A | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.796-640_796-636del others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333067 | |||||||
chr14:50333115 | G | A | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.796-683C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333115 | |||||||
chr14:50333156 | A | T | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.796-724T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333156 | |||||||
chr14:50333213 | A | G | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.796-781T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333213 | |||||||
chr14:50333230 | TACTC | T | 8 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0075g0154 others(5): Show |
8 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.796-802_796-799del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333230 | |||||||
chr14:50333366 | G | A | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.796-934C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333366 | |||||||
chr14:50333529 | A | ATAAT | 183 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(180): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.795+1035_795+1036i others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333529 | |||||||
chr14:50333784 | A | G | 163 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(160): Show |
164 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(161): Show |
intron_variant | MODIFIER | c.795+781T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333784 | |||||||
chr14:50333825 | T | C | 1 | a0002c0002t0138g0300 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.795+740A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333825 | |||||||
chr14:50333888 | T | A | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.795+677A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333888 | |||||||
chr14:50333897 | A | T | 8 | a0001c0001t0001g0042 a0001c0001t0002g0193 a0001c0001t0002g0211 others(5): Show |
8 | HG01891.hp2 HG02451.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.795+668T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333897 | |||||||
chr14:50333900 | T | A | 166 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(163): Show |
167 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.795+665A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333900 | |||||||
chr14:50333909 | A | G | 1 | a0006c0006t0120g0221 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.795+656T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333909 | |||||||
chr14:50333926 | G | A | 3 | a0002c0002t0003g0131 a0002c0002t0003g0140 a0002c0002t0022g0279 |
3 | HG02602.hp1 HG02735.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.795+639C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50333926 | |||||||
chr14:50334115 | A | T | 166 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(163): Show |
167 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.795+450T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334115 | |||||||
chr14:50334153 | A | G | 2 | a0002c0002t0038g0283 a0002c0002t0038g0286 |
2 | HG01884.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.795+412T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334153 | |||||||
chr14:50334158 | G | T | 1 | a0001c0001t0127g0264 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.795+407C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334158 | |||||||
chr14:50334160 | AT | A | 17 | a0001c0001t0006g0250 a0001c0001t0016g0112 a0001c0001t0046g0104 others(14): Show |
17 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.795+404delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334160 | |||||||
chr14:50334180 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.795+385C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334180 | |||||||
chr14:50334188 | A | G | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.795+377T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334188 | |||||||
chr14:50334195 | C | T | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.795+370G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334195 | |||||||
chr14:50334261 | A | G | 23 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(20): Show |
23 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(20): Show |
intron_variant | MODIFIER | c.795+304T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334261 | |||||||
chr14:50334285 | T | TAGTC | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.795+276_795+279dup others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334285 | |||||||
chr14:50334305 | C | T | 15 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(12): Show |
15 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.795+260G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334305 | |||||||
chr14:50334314 | G | A | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.795+251C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334314 | |||||||
chr14:50334319 | ATT | A | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.795+244_795+245del others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334319 | |||||||
chr14:50334384 | G | A | 183 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(180): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.795+181C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334384 | |||||||
chr14:50334437 | C | T | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.795+128G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334437 | |||||||
chr14:50334514 | T | C | 1 | a0001c0001t0006g0241 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.795+51A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334514 | |||||||
chr14:50334515 | G | A | 5 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(2): Show |
5 | HG01261.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.795+50C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334515 | |||||||
chr14:50334548 | G | A | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.795+17C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 8/9 | chr14 | 50334548 | |||||||
chr14:50334733 | C | G | 1 | a0001c0001t0105g0169 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.739-112G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334733 | |||||||
chr14:50334811 | C | T | 7 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(4): Show |
7 | HG01261.hp2 HG01891.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.739-190G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334811 | |||||||
chr14:50334831 | G | A | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.739-210C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334831 | |||||||
chr14:50334831 | G | C | 14 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(11): Show |
14 | HG01261.hp2 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.739-210C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334831 | |||||||
chr14:50334837 | A | G | 1 | a0001c0001t0023g0288 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.739-216T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334837 | |||||||
chr14:50334920 | G | GT | 242 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(239): Show |
245 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(242): Show |
intron_variant | MODIFIER | c.739-300dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334920 | |||||||
chr14:50334977 | T | A | 9 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0075g0154 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.739-356A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50334977 | |||||||
chr14:50335092 | A | C | 11 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(8): Show |
11 | HG00323.hp2 HG00639.hp2 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.739-471T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335092 | |||||||
chr14:50335114 | CCTGT | C | 197 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(194): Show |
198 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.739-497_739-494del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335114 | |||||||
chr14:50335201 | C | A | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.739-580G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335201 | |||||||
chr14:50335210 | G | A | 5 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(2): Show |
5 | HG02615.hp1 HG02965.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.739-589C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335210 | |||||||
chr14:50335295 | C | CA | 37 | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0073 others(34): Show |
37 | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.739-675dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335295 | |||||||
chr14:50335295 | CA | C | 84 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0193 others(81): Show |
86 | HG00621.hp2 HG00673.hp2 HG00733.hp1 others(83): Show |
intron_variant | MODIFIER | c.739-675delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335295 | |||||||
chr14:50335295 | CAAAA | C | 22 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(19): Show |
22 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(19): Show |
intron_variant | MODIFIER | c.739-678_739-675del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335295 | |||||||
chr14:50335295 | CAAAAAAA others(4): Show |
C | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.739-685_739-675del others(11): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335295 | |||||||
chr14:50335331 | A | G | 2 | a0001c0001t0097g0166 a0002c0002t0138g0300 |
2 | HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.739-710T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335331 | |||||||
chr14:50335480 | T | G | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.739-859A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335480 | |||||||
chr14:50335526 | C | T | 4 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 others(1): Show |
4 | HG01891.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.739-905G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335526 | |||||||
chr14:50335546 | C | T | 1 | a0002c0002t0029g0020 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.739-925G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335546 | |||||||
chr14:50335722 | TGTGTGAG others(5): Show |
T | 24 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(21): Show |
24 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.739-1113_739-1102d others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335722 | |||||||
chr14:50335735 | G | C | 24 | a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 others(21): Show |
24 | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.739-1114C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335735 | |||||||
chr14:50335740 | G | C | 4 | a0002c0002t0118g0171 a0004c0004t0021g0217 a0004c0004t0021g0218 others(1): Show |
4 | HG02559.hp2 HG03195.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.739-1119C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335740 | |||||||
chr14:50335839 | A | C | 9 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0075g0154 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.739-1218T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335839 | |||||||
chr14:50335840 | A | G | 1 | a0001c0001t0006g0241 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.739-1219T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50335840 | |||||||
chr14:50336009 | A | C | 170 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(167): Show |
171 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.739-1388T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336009 | |||||||
chr14:50336122 | A | G | 172 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(169): Show |
173 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.739-1501T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336122 | |||||||
chr14:50336163 | T | C | 1 | a0002c0002t0015g0284 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.739-1542A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336163 | |||||||
chr14:50336198 | A | G | 1 | a0002c0002t0005g0085 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.739-1577T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336198 | |||||||
chr14:50336237 | C | A | 1 | a0001c0001t0016g0246 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.739-1616G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336237 | |||||||
chr14:50336254 | G | A | 34 | a0001c0001t0002g0189 a0002c0002t0008g0002 a0002c0002t0008g0051 others(31): Show |
36 | HG00323.hp1 HG00621.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.739-1633C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336254 | |||||||
chr14:50336263 | C | A | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.739-1642G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336263 | |||||||
chr14:50336597 | G | A | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(5): Show |
8 | HG02615.hp1 HG02965.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.739-1976C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336597 | |||||||
chr14:50336630 | G | A | 1 | a0001c0001t0018g0010 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.739-2009C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336630 | |||||||
chr14:50336640 | A | C | 176 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(173): Show |
177 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.739-2019T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336640 | |||||||
chr14:50336742 | G | T | 153 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(150): Show |
154 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.739-2121C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336742 | |||||||
chr14:50336767 | T | C | 2 | a0001c0001t0058g0111 a0001c0001t0112g0172 |
2 | HG02109.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.739-2146A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336767 | |||||||
chr14:50336863 | T | TA | 170 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(167): Show |
171 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.738+2083dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336863 | |||||||
chr14:50336863 | T | TAA | 33 | a0001c0001t0001g0012 a0001c0001t0068g0151 a0001c0001t0103g0004 others(30): Show |
33 | HG00423.hp1 HG00621.hp1 HG01261.hp2 others(30): Show |
intron_variant | MODIFIER | c.738+2082_738+2083d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50336863 | |||||||
chr14:50337216 | C | G | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.738+1731G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337216 | |||||||
chr14:50337246 | C | T | 6 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(3): Show |
6 | HG01261.hp2 HG01891.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.738+1701G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337246 | |||||||
chr14:50337328 | C | CT | 39 | a0001c0001t0001g0032 a0001c0001t0002g0173 a0001c0001t0002g0212 others(36): Show |
39 | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(36): Show |
intron_variant | MODIFIER | c.738+1618dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337328 | |||||||
chr14:50337328 | CT | C | 6 | a0001c0001t0001g0052 a0001c0001t0117g0213 a0001c0001t0125g0263 others(3): Show |
6 | HG00609.hp1 HG01943.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.738+1618delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337328 | |||||||
chr14:50337500 | T | C | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.738+1447A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337500 | |||||||
chr14:50337644 | C | T | 5 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(2): Show |
5 | HG01261.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.738+1303G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337644 | |||||||
chr14:50337681 | C | CT | 167 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(164): Show |
168 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(165): Show |
intron_variant | MODIFIER | c.738+1265dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337681 | |||||||
chr14:50337681 | CT | C | 9 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0132g0297 others(6): Show |
9 | HG01261.hp2 HG01891.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.738+1265delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337681 | |||||||
chr14:50337828 | G | A | 1 | a0002c0002t0015g0284 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.738+1119C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337828 | |||||||
chr14:50337833 | A | C | 164 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(161): Show |
165 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.738+1114T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337833 | |||||||
chr14:50337871 | G | C | 164 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(161): Show |
165 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.738+1076C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337871 | |||||||
chr14:50337890 | G | A | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(5): Show |
8 | HG02615.hp1 HG02965.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.738+1057C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337890 | |||||||
chr14:50337901 | G | A | 1 | a0001c0001t0001g0076 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.738+1046C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50337901 | |||||||
chr14:50338056 | C | T | 1 | a0006c0006t0120g0221 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.738+891G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338056 | |||||||
chr14:50338251 | C | T | 1 | a0001c0001t0002g0173 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.738+696G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338251 | |||||||
chr14:50338258 | G | A | 1 | a0002c0002t0119g0216 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.738+689C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338258 | |||||||
chr14:50338369 | A | G | 9 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0075g0154 others(6): Show |
9 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.738+578T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338369 | |||||||
chr14:50338661 | G | A | 1 | a0002c0002t0003g0132 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.738+286C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338661 | |||||||
chr14:50338921 | A | T | 1 | a0002c0002t0005g0045 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.738+26T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | 50338921 | |||||||
chr14:50339301 | G | C | 1 | a0006c0006t0120g0221 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.656-272C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339301 | |||||||
chr14:50339383 | G | A | 57 | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 others(54): Show |
57 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(54): Show |
intron_variant | MODIFIER | c.656-354C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339383 | |||||||
chr14:50339521 | GAAGA | G | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.656-496_656-493del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339521 | |||||||
chr14:50339522 | A | G | 175 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(172): Show |
176 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.656-493T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339522 | |||||||
chr14:50339529 | G | A | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.656-500C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339529 | |||||||
chr14:50339535 | A | AG | 4 | a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0002g0178 others(1): Show |
4 | HG02074.hp2 NA18612.hp1 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.656-507dupC | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339535 | |||||||
chr14:50339576 | C | T | 1 | a0001c0001t0104g0006 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.656-547G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339576 | |||||||
chr14:50339599 | A | G | 3 | a0004c0004t0021g0217 a0004c0004t0021g0218 a0004c0004t0021g0220 |
3 | HG02559.hp2 HG03195.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.656-570T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339599 | |||||||
chr14:50339724 | T | A | 5 | a0001c0001t0058g0111 a0001c0001t0090g0063 a0001c0001t0110g0219 others(2): Show |
5 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.656-695A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339724 | |||||||
chr14:50339958 | T | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
141 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(138): Show |
intron_variant | MODIFIER | c.656-929A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50339958 | |||||||
chr14:50340005 | G | A | 202 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(199): Show |
203 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(200): Show |
intron_variant | MODIFIER | c.656-976C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340005 | |||||||
chr14:50340182 | G | A | 1 | a0001c0001t0095g0164 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.655+850C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340182 | |||||||
chr14:50340257 | G | A | 1 | a0002c0002t0034g0201 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.655+775C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340257 | |||||||
chr14:50340340 | C | T | 4 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0096g0165 others(1): Show |
4 | HG01891.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.655+692G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340340 | |||||||
chr14:50340455 | T | C | 34 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(31): Show |
34 | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(31): Show |
intron_variant | MODIFIER | c.655+577A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340455 | |||||||
chr14:50340532 | C | T | 2 | a0001c0001t0097g0166 a0002c0002t0138g0300 |
2 | HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.655+500G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340532 | |||||||
chr14:50340671 | G | A | 234 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(231): Show |
235 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(232): Show |
intron_variant | MODIFIER | c.655+361C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340671 | |||||||
chr14:50340906 | C | T | 37 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(34): Show |
37 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.655+126G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 6/9 | chr14 | 50340906 | |||||||
chr14:50341269 | G | A | 2 | a0001c0001t0011g0270 a0001c0001t0011g0296 |
2 | HG02723.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.455-37C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341269 | |||||||
chr14:50341315 | T | C | 8 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(5): Show |
8 | HG01070.hp1 HG01071.hp1 HG01123.hp1 others(5): Show |
intron_variant | MODIFIER | c.455-83A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341315 | |||||||
chr14:50341344 | G | A | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.455-112C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341344 | |||||||
chr14:50341446 | G | A | 5 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0004c0004t0021g0217 others(2): Show |
5 | HG02559.hp2 HG03195.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.455-214C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341446 | |||||||
chr14:50341454 | T | C | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.455-222A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341454 | |||||||
chr14:50341456 | T | TG | 29 | a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0002g0174 others(26): Show |
29 | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.455-225dupC | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341456 | |||||||
chr14:50341456 | T | TGG | 21 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 others(18): Show |
21 | HG00733.hp2 HG01361.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.455-226_455-225dup others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341456 | |||||||
chr14:50341456 | TG | T | 72 | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 others(69): Show |
73 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(70): Show |
intron_variant | MODIFIER | c.455-225delC | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341456 | |||||||
chr14:50341456 | TGG | T | 35 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0041 others(32): Show |
36 | HG00408.hp2 HG00609.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.455-226_455-225del others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341456 | |||||||
chr14:50341456 | TGGGG | T | 37 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(34): Show |
37 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.455-228_455-225del others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341456 | |||||||
chr14:50341458 | G | T | 1 | a0001c0001t0002g0189 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.455-226C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341458 | |||||||
chr14:50341459 | G | C | 1 | a0002c0002t0086g0087 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.455-227C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341459 | |||||||
chr14:50341459 | G | T | 1 | a0001c0001t0062g0149 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.455-227C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341459 | |||||||
chr14:50341461 | G | C | 1 | a0001c0001t0001g0014 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.455-229C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341461 | |||||||
chr14:50341461 | G | T | 4 | a0001c0001t0002g0193 a0001c0001t0011g0270 a0001c0001t0011g0281 others(1): Show |
4 | HG02451.hp2 HG02723.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.455-229C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341461 | |||||||
chr14:50341463 | G | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.455-231C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341463 | |||||||
chr14:50341470 | G | C | 35 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(32): Show |
35 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.455-238C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341470 | |||||||
chr14:50341470 | G | T | 1 | a0001c0001t0001g0057 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.455-238C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341470 | |||||||
chr14:50341471 | G | C | 13 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(10): Show |
13 | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.455-239C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341471 | |||||||
chr14:50341471 | G | T | 5 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0004c0004t0021g0217 others(2): Show |
5 | HG02559.hp2 HG03195.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.455-239C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341471 | |||||||
chr14:50341536 | T | C | 177 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(174): Show |
178 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.455-304A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341536 | |||||||
chr14:50341545 | G | A | 2 | a0001c0001t0002g0178 a0001c0001t0036g0230 |
2 | HG02074.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.455-313C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341545 | |||||||
chr14:50341564 | A | G | 218 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(215): Show |
219 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.455-332T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341564 | |||||||
chr14:50341576 | C | G | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.455-344G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341576 | |||||||
chr14:50341780 | C | CA | 176 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(173): Show |
177 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.454+351dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341780 | |||||||
chr14:50341780 | C | CAA | 10 | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0004g0129 others(7): Show |
10 | HG00408.hp2 HG01123.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.454+350_454+351dup others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341780 | |||||||
chr14:50341780 | CA | C | 6 | a0001c0001t0058g0111 a0001c0001t0097g0166 a0001c0001t0110g0219 others(3): Show |
6 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.454+351delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341780 | |||||||
chr14:50341800 | T | C | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.454+332A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341800 | |||||||
chr14:50341858 | T | C | 5 | a0001c0001t0002g0193 a0001c0001t0011g0270 a0001c0001t0011g0281 others(2): Show |
5 | HG02451.hp2 HG02615.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.454+274A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341858 | |||||||
chr14:50341985 | C | T | 19 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(16): Show |
19 | HG01433.hp1 HG01891.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.454+147G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50341985 | |||||||
chr14:50342005 | T | A | 1 | a0002c0002t0012g0123 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.454+127A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50342005 | |||||||
chr14:50342084 | G | T | 211 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(208): Show |
212 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.454+48C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 5/9 | chr14 | 50342084 | |||||||
chr14:50342247 | A | C | 35 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(32): Show |
35 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.364-25T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342247 | |||||||
chr14:50342325 | C | A | 2 | a0001c0001t0075g0154 a0001c0001t0076g0155 |
2 | HG02647.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.364-103G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342325 | |||||||
chr14:50342347 | C | G | 5 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(2): Show |
5 | HG01433.hp1 HG02965.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.364-125G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342347 | |||||||
chr14:50342430 | G | A | 20 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(17): Show |
20 | HG01433.hp1 HG01891.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.364-208C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342430 | |||||||
chr14:50342541 | A | C | 4 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(1): Show |
4 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.364-319T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342541 | |||||||
chr14:50342820 | T | C | 20 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(17): Show |
20 | HG01433.hp1 HG01891.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.364-598A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342820 | |||||||
chr14:50342913 | GGA | G | 5 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0004c0004t0021g0217 others(2): Show |
5 | HG02559.hp2 HG03195.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.364-693_364-692del others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342913 | |||||||
chr14:50342933 | C | G | 20 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(17): Show |
20 | HG01433.hp1 HG01891.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.364-711G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342933 | |||||||
chr14:50342972 | C | T | 3 | a0001c0001t0127g0264 a0002c0002t0039g0265 a0002c0002t0039g0266 |
3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.364-750G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342972 | |||||||
chr14:50342977 | G | A | 1 | a0002c0002t0007g0084 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.364-755C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342977 | |||||||
chr14:50342987 | C | T | 3 | a0001c0001t0002g0181 a0001c0001t0002g0203 a0001c0001t0109g0183 |
3 | HG00741.hp2 HG01256.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.364-765G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50342987 | |||||||
chr14:50343061 | TAGAGA | T | 4 | a0001c0001t0058g0111 a0001c0001t0110g0219 a0001c0001t0112g0172 others(1): Show |
4 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.364-844_364-840del others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343061 | |||||||
chr14:50343155 | C | CTTT | 15 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0004g0120 others(12): Show |
15 | HG00323.hp2 HG01109.hp2 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.364-936_364-934dup others(3): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343155 | |||||||
chr14:50343155 | C | CTTTT | 173 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(170): Show |
174 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.364-937_364-934dup others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343155 | |||||||
chr14:50343155 | C | CTTTTT | 16 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0027 others(13): Show |
16 | HG00597.hp1 HG00673.hp1 HG00733.hp1 others(13): Show |
intron_variant | MODIFIER | c.364-938_364-934dup others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343155 | |||||||
chr14:50343175 | G | T | 4 | a0001c0001t0058g0111 a0001c0001t0110g0219 a0001c0001t0112g0172 others(1): Show |
4 | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.364-953C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343175 | |||||||
chr14:50343177 | G | C | 211 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(208): Show |
212 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.364-955C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343177 | |||||||
chr14:50343198 | G | A | 1 | a0002c0002t0111g0188 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.364-976C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343198 | |||||||
chr14:50343231 | T | C | 1 | a0002c0002t0064g0137 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.364-1009A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343231 | |||||||
chr14:50343349 | C | A | 1 | a0001c0001t0121g0224 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.364-1127G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343349 | |||||||
chr14:50343440 | T | G | 212 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(209): Show |
213 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.364-1218A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343440 | |||||||
chr14:50343661 | A | G | 4 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(1): Show |
4 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.363+1325T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343661 | |||||||
chr14:50343672 | C | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(208): Show |
212 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.363+1314G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50343672 | |||||||
chr14:50344235 | C | T | 1 | a0002c0002t0139g0302 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.363+751G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344235 | |||||||
chr14:50344236 | G | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.363+750C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344236 | |||||||
chr14:50344242 | C | G | 1 | a0002c0002t0056g0248 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.363+744G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344242 | |||||||
chr14:50344277 | T | C | 1 | a0002c0002t0053g0235 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.363+709A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344277 | |||||||
chr14:50344307 | C | T | 165 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(162): Show |
166 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.363+679G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344307 | |||||||
chr14:50344468 | G | GT | 38 | a0001c0001t0001g0052 a0001c0001t0052g0107 a0001c0001t0091g0074 others(35): Show |
40 | HG00323.hp1 HG00609.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.363+517dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344468 | |||||||
chr14:50344468 | GT | G | 69 | a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0002g0184 others(66): Show |
69 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.363+517delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344468 | |||||||
chr14:50344468 | GTT | G | 148 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(145): Show |
149 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.363+516_363+517del others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344468 | |||||||
chr14:50344469 | T | G | 2 | a0001c0001t0050g0109 a0001c0001t0113g0207 |
2 | HG01175.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.363+517A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344469 | |||||||
chr14:50344470 | T | G | 56 | a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0002g0184 others(53): Show |
56 | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.363+516A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344470 | |||||||
chr14:50344471 | T | G | 148 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(145): Show |
149 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.363+515A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344471 | |||||||
chr14:50344472 | T | G | 3 | a0002c0002t0005g0048 a0005c0005t0133g0255 a0005c0005t0134g0256 |
3 | HG02809.hp2 HG03486.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.363+514A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344472 | |||||||
chr14:50344489 | A | G | 3 | a0001c0001t0127g0264 a0002c0002t0039g0265 a0002c0002t0039g0266 |
3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.363+497T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344489 | |||||||
chr14:50344558 | C | G | 211 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(208): Show |
212 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.363+428G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344558 | |||||||
chr14:50344659 | A | T | 1 | a0001c0001t0004g0116 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.363+327T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 4/9 | chr14 | 50344659 | |||||||
chr14:50345201 | T | C | 1 | a0002c0002t0065g0135 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.291-143A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50345201 | |||||||
chr14:50345411 | T | C | 222 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(219): Show |
223 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.291-353A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50345411 | |||||||
chr14:50345465 | G | C | 40 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(37): Show |
40 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(37): Show |
intron_variant | MODIFIER | c.291-407C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50345465 | |||||||
chr14:50345648 | C | T | 9 | a0001c0001t0054g0245 a0001c0001t0075g0154 a0001c0001t0076g0155 others(6): Show |
9 | HG01934.hp2 HG02074.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.291-590G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50345648 | |||||||
chr14:50346048 | GTGTTGC | G | 3 | a0001c0001t0043g0273 a0001c0001t0125g0263 a0001c0001t0131g0269 |
3 | HG01243.hp1 HG01943.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.291-996_291-991del others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346048 | |||||||
chr14:50346073 | C | T | 35 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(32): Show |
35 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.291-1015G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346073 | |||||||
chr14:50346258 | G | A | 1 | a0002c0002t0045g0103 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.291-1200C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346258 | |||||||
chr14:50346299 | T | G | 276 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(273): Show |
279 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(276): Show |
intron_variant | MODIFIER | c.291-1241A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346299 | |||||||
chr14:50346470 | T | A | 5 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 others(2): Show |
5 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.291-1412A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346470 | |||||||
chr14:50346484 | C | G | 1 | a0001c0001t0002g0192 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.291-1426G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346484 | |||||||
chr14:50346567 | C | T | 1 | a0006c0006t0120g0221 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.291-1509G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346567 | |||||||
chr14:50346586 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-1528T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346586 | |||||||
chr14:50346651 | G | GT | 91 | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 others(88): Show |
91 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.291-1594_291-1593i others(3): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346651 | |||||||
chr14:50346651 | G | GTT | 83 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(80): Show |
84 | HG00099.hp1 HG00140.hp1 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.291-1594_291-1593i others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346651 | |||||||
chr14:50346651 | G | GTTT | 4 | a0001c0001t0006g0249 a0001c0001t0106g0210 a0001c0001t0115g0170 others(1): Show |
4 | HG01106.hp1 HG02486.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.291-1594_291-1593i others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346651 | |||||||
chr14:50346651 | G | T | 1 | a0002c0002t0138g0300 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.291-1593C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346651 | |||||||
chr14:50346652 | G | T | 217 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(214): Show |
218 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.291-1594C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346652 | |||||||
chr14:50346652 | GT | G | 6 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0002c0002t0003g0145 others(3): Show |
6 | HG02559.hp2 HG03017.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.291-1595delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346652 | |||||||
chr14:50346657 | T | TTG | 31 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0043g0273 others(28): Show |
31 | HG00280.hp2 HG00639.hp2 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.291-1600_291-1599i others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346657 | |||||||
chr14:50346810 | A | G | 241 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(238): Show |
242 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(239): Show |
intron_variant | MODIFIER | c.291-1752T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346810 | |||||||
chr14:50346851 | G | A | 2 | a0001c0001t0097g0166 a0002c0002t0138g0300 |
2 | HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.291-1793C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346851 | |||||||
chr14:50346871 | A | G | 1 | a0002c0002t0009g0059 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.291-1813T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50346871 | |||||||
chr14:50347258 | G | A | 164 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(161): Show |
165 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.291-2200C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347258 | |||||||
chr14:50347404 | T | C | 1 | a0002c0002t0015g0290 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.291-2346A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347404 | |||||||
chr14:50347407 | G | A | 6 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(3): Show |
6 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.291-2349C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347407 | |||||||
chr14:50347597 | C | T | 9 | a0001c0001t0054g0245 a0001c0001t0075g0154 a0001c0001t0076g0155 others(6): Show |
9 | HG01934.hp2 HG02074.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.291-2539G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347597 | |||||||
chr14:50347735 | T | C | 4 | a0001c0001t0047g0234 a0001c0001t0124g0254 a0002c0002t0026g0236 others(1): Show |
4 | HG00280.hp1 HG00738.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.291-2677A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347735 | |||||||
chr14:50347804 | G | C | 1 | a0001c0001t0002g0215 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.291-2746C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347804 | |||||||
chr14:50347812 | C | T | 170 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(167): Show |
170 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(167): Show |
intron_variant | MODIFIER | c.291-2754G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347812 | |||||||
chr14:50347846 | A | G | 235 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(232): Show |
236 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(233): Show |
intron_variant | MODIFIER | c.291-2788T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50347846 | |||||||
chr14:50348346 | A | C | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.291-3288T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348346 | |||||||
chr14:50348421 | G | A | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.291-3363C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348421 | |||||||
chr14:50348490 | C | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-3432G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348490 | |||||||
chr14:50348541 | G | C | 28 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(25): Show |
28 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(25): Show |
intron_variant | MODIFIER | c.291-3483C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348541 | |||||||
chr14:50348731 | C | T | 199 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(196): Show |
200 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.291-3673G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348731 | |||||||
chr14:50348839 | T | A | 7 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(4): Show |
7 | HG02145.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.291-3781A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348839 | |||||||
chr14:50348861 | A | G | 1 | a0002c0002t0007g0084 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.291-3803T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348861 | |||||||
chr14:50348897 | A | T | 12 | a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0004g0120 others(9): Show |
12 | HG00438.hp2 HG01978.hp1 HG01993.hp1 others(9): Show |
intron_variant | MODIFIER | c.291-3839T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50348897 | |||||||
chr14:50349077 | C | G | 9 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(6): Show |
9 | HG01891.hp1 HG02559.hp2 HG03139.hp1 others(6): Show |
intron_variant | MODIFIER | c.291-4019G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349077 | |||||||
chr14:50349106 | C | A | 4 | a0002c0002t0008g0002 a0002c0002t0008g0088 a0002c0002t0078g0157 others(1): Show |
5 | HG01257.hp1 HG01258.hp2 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.291-4048G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349106 | |||||||
chr14:50349166 | G | T | 1 | a0002c0002t0015g0284 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.291-4108C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349166 | |||||||
chr14:50349374 | G | A | 24 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0068g0151 others(21): Show |
24 | HG00733.hp1 HG01099.hp2 HG01256.hp2 others(21): Show |
intron_variant | MODIFIER | c.291-4316C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349374 | |||||||
chr14:50349394 | T | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-4336A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349394 | |||||||
chr14:50349742 | TTTG | T | 196 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(193): Show |
197 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.291-4687_291-4685d others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349742 | |||||||
chr14:50349778 | TG | T | 4 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0096g0165 others(1): Show |
4 | HG01891.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.291-4721delC | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349778 | |||||||
chr14:50349792 | G | A | 134 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(131): Show |
135 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(132): Show |
intron_variant | MODIFIER | c.291-4734C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349792 | |||||||
chr14:50349954 | A | G | 9 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(6): Show |
9 | HG01891.hp1 HG02559.hp2 HG03139.hp1 others(6): Show |
intron_variant | MODIFIER | c.291-4896T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50349954 | |||||||
chr14:50350040 | A | C | 1 | a0002c0002t0053g0235 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.291-4982T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350040 | |||||||
chr14:50350350 | G | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-5292C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350350 | |||||||
chr14:50350390 | T | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-5332A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350390 | |||||||
chr14:50350456 | C | A | 1 | a0002c0002t0015g0290 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.291-5398G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350456 | |||||||
chr14:50350540 | A | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-5482T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350540 | |||||||
chr14:50350686 | G | A | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.291-5628C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350686 | |||||||
chr14:50350805 | G | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-5747C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50350805 | |||||||
chr14:50351096 | G | C | 2 | a0002c0002t0003g0145 a0002c0002t0003g0146 |
2 | HG03017.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.291-6038C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351096 | |||||||
chr14:50351249 | G | A | 2 | a0002c0002t0003g0145 a0002c0002t0003g0146 |
2 | HG03017.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.291-6191C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351249 | |||||||
chr14:50351455 | C | T | 3 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0096g0165 |
3 | HG03139.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.291-6397G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351455 | |||||||
chr14:50351578 | A | G | 1 | a0002c0002t0010g0194 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.291-6520T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351578 | |||||||
chr14:50351596 | G | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.291-6538C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351596 | |||||||
chr14:50351676 | A | C | 39 | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0073 others(36): Show |
39 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(36): Show |
intron_variant | MODIFIER | c.291-6618T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351676 | |||||||
chr14:50351734 | CA | C | 9 | a0001c0001t0001g0032 a0001c0001t0002g0212 a0001c0001t0035g0226 others(6): Show |
9 | HG00639.hp1 HG01074.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.291-6677delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351734 | |||||||
chr14:50351888 | A | T | 13 | a0001c0001t0058g0111 a0001c0001t0068g0151 a0001c0001t0097g0166 others(10): Show |
13 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.291-6830T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50351888 | |||||||
chr14:50352180 | T | A | 1 | a0001c0001t0006g0243 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.290+6848A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352180 | |||||||
chr14:50352306 | G | C | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.290+6722C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352306 | |||||||
chr14:50352318 | G | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+6710C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352318 | |||||||
chr14:50352330 | G | GA | 31 | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0073 others(28): Show |
31 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(28): Show |
intron_variant | MODIFIER | c.290+6697dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352330 | |||||||
chr14:50352335 | A | AAT | 22 | a0001c0001t0046g0104 a0001c0001t0058g0111 a0001c0001t0072g0153 others(19): Show |
22 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(19): Show |
intron_variant | MODIFIER | c.290+6691_290+6692d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352335 | |||||||
chr14:50352335 | A | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+6693T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352335 | |||||||
chr14:50352337 | T | A | 1 | a0001c0001t0103g0004 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.290+6691A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352337 | |||||||
chr14:50352458 | A | G | 1 | a0001c0001t0033g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.290+6570T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352458 | |||||||
chr14:50352624 | AG | A | 13 | a0001c0001t0058g0111 a0001c0001t0068g0151 a0001c0001t0097g0166 others(10): Show |
13 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.290+6403delC | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352624 | |||||||
chr14:50352651 | G | A | 201 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(198): Show |
202 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(199): Show |
intron_variant | MODIFIER | c.290+6377C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352651 | |||||||
chr14:50352805 | G | A | 1 | a0001c0001t0006g0249 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.290+6223C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352805 | |||||||
chr14:50352836 | T | C | 13 | a0001c0001t0058g0111 a0001c0001t0068g0151 a0001c0001t0097g0166 others(10): Show |
13 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.290+6192A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352836 | |||||||
chr14:50352901 | T | C | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.290+6127A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50352901 | |||||||
chr14:50353048 | T | C | 1 | a0001c0001t0037g0231 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.290+5980A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353048 | |||||||
chr14:50353092 | A | G | 5 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0004c0004t0021g0217 others(2): Show |
5 | HG02559.hp2 HG03195.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.290+5936T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353092 | |||||||
chr14:50353186 | GT | G | 13 | a0001c0001t0058g0111 a0001c0001t0068g0151 a0001c0001t0097g0166 others(10): Show |
13 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.290+5841delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353186 | |||||||
chr14:50353529 | GAATTT | G | 167 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(164): Show |
168 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(165): Show |
intron_variant | MODIFIER | c.290+5494_290+5498d others(7): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353529 | |||||||
chr14:50353543 | G | C | 11 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(8): Show |
11 | HG01891.hp1 HG02559.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.290+5485C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353543 | |||||||
chr14:50353553 | C | T | 6 | a0001c0001t0001g0065 a0001c0001t0006g0250 a0001c0001t0047g0234 others(3): Show |
6 | HG00280.hp1 HG00738.hp1 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.290+5475G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353553 | |||||||
chr14:50353635 | C | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+5393G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353635 | |||||||
chr14:50353702 | A | G | 1 | a0001c0001t0110g0219 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.290+5326T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353702 | |||||||
chr14:50353811 | G | A | 1 | a0001c0001t0023g0294 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.290+5217C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353811 | |||||||
chr14:50353891 | T | C | 2 | a0001c0001t0072g0153 a0001c0001t0073g0152 |
2 | HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.290+5137A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50353891 | |||||||
chr14:50354144 | G | A | 1 | a0001c0001t0002g0196 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.290+4884C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354144 | |||||||
chr14:50354197 | C | T | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.290+4831G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354197 | |||||||
chr14:50354251 | A | G | 2 | a0002c0002t0022g0278 a0002c0002t0042g0277 |
2 | NA18963.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.290+4777T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354251 | |||||||
chr14:50354308 | T | G | 5 | a0002c0002t0007g0031 a0002c0002t0007g0053 a0002c0002t0007g0055 others(2): Show |
5 | HG02559.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.290+4720A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354308 | |||||||
chr14:50354474 | T | C | 1 | a0001c0001t0011g0285 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.290+4554A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354474 | |||||||
chr14:50354516 | A | T | 7 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(4): Show |
7 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.290+4512T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354516 | |||||||
chr14:50354710 | G | A | 135 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.290+4318C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354710 | |||||||
chr14:50354862 | C | T | 2 | a0001c0001t0014g0179 a0001c0001t0014g0206 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.290+4166G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354862 | |||||||
chr14:50354904 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+4124T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50354904 | |||||||
chr14:50355010 | T | C | 201 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(198): Show |
202 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(199): Show |
intron_variant | MODIFIER | c.290+4018A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50355010 | |||||||
chr14:50355383 | C | T | 194 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(191): Show |
195 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(192): Show |
intron_variant | MODIFIER | c.290+3645G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50355383 | |||||||
chr14:50355782 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.290+3246C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50355782 | |||||||
chr14:50355783 | C | A | 1 | a0001c0001t0061g0126 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.290+3245G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50355783 | |||||||
chr14:50355800 | C | G | 202 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(199): Show |
203 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(200): Show |
intron_variant | MODIFIER | c.290+3228G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50355800 | |||||||
chr14:50356229 | C | T | 1 | a0001c0001t0062g0149 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.290+2799G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356229 | |||||||
chr14:50356306 | C | T | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.290+2722G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356306 | |||||||
chr14:50356354 | A | G | 135 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.290+2674T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356354 | |||||||
chr14:50356418 | T | C | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.290+2610A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356418 | |||||||
chr14:50356471 | T | C | 1 | a0001c0001t0001g0001 | 2 | HG02615.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.290+2557A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356471 | |||||||
chr14:50356516 | C | T | 3 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0096g0165 |
3 | HG03139.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.290+2512G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356516 | |||||||
chr14:50356967 | C | T | 1 | a0002c0002t0007g0053 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.290+2061G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50356967 | |||||||
chr14:50357134 | C | T | 135 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.290+1894G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357134 | |||||||
chr14:50357168 | T | C | 1 | a0002c0002t0085g0082 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.290+1860A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357168 | |||||||
chr14:50357602 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+1426T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357602 | |||||||
chr14:50357618 | T | C | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.290+1410A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357618 | |||||||
chr14:50357695 | C | T | 33 | a0001c0001t0023g0274 a0001c0001t0023g0288 a0001c0001t0023g0294 others(30): Show |
33 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.290+1333G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357695 | |||||||
chr14:50357716 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+1312G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50357716 | |||||||
chr14:50358121 | G | A | 186 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(183): Show |
187 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.290+907C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358121 | |||||||
chr14:50358164 | A | G | 5 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0004c0004t0021g0217 others(2): Show |
5 | HG02559.hp2 HG03195.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.290+864T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358164 | |||||||
chr14:50358236 | T | C | 178 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(175): Show |
179 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(176): Show |
intron_variant | MODIFIER | c.290+792A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358236 | |||||||
chr14:50358258 | G | T | 6 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(3): Show |
6 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.290+770C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358258 | |||||||
chr14:50358315 | T | C | 240 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(237): Show |
241 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.290+713A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358315 | |||||||
chr14:50358358 | A | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+670T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358358 | |||||||
chr14:50358540 | A | T | 169 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(166): Show |
170 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.290+488T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358540 | |||||||
chr14:50358636 | C | CTTTTTTT others(3): Show |
102 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(99): Show |
103 | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(100): Show |
intron_variant | MODIFIER | c.290+382_290+391dup others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358636 | C | CTTTTTTT others(4): Show |
47 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 others(44): Show |
47 | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(44): Show |
intron_variant | MODIFIER | c.290+381_290+391dup others(11): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358636 | C | CTTTTTTT others(5): Show |
10 | a0001c0001t0001g0057 a0001c0001t0019g0205 a0001c0001t0023g0288 others(7): Show |
10 | HG00323.hp2 HG00408.hp1 HG00639.hp2 others(7): Show |
intron_variant | MODIFIER | c.290+380_290+391dup others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358636 | C | CTTTTTTT others(6): Show |
3 | a0001c0001t0023g0274 a0001c0001t0043g0273 a0001c0001t0125g0263 |
3 | HG01109.hp2 HG01943.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.290+379_290+391dup others(13): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358636 | C | CTTTTTTT others(7): Show |
1 | a0002c0002t0040g0272 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.290+378_290+391dup others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358636 | CTTTTTTT others(2): Show |
C | 11 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(8): Show |
11 | HG01891.hp1 HG02559.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.290+383_290+391del others(9): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358636 | |||||||
chr14:50358696 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+332T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358696 | |||||||
chr14:50358706 | C | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+322G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358706 | |||||||
chr14:50358918 | G | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+110C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358918 | |||||||
chr14:50358946 | A | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.290+82T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | 50358946 | |||||||
chr14:50359548 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-399A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359548 | |||||||
chr14:50359610 | A | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-461T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359610 | |||||||
chr14:50359694 | C | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-545G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359694 | |||||||
chr14:50359725 | G | T | 2 | a0002c0002t0022g0278 a0002c0002t0042g0277 |
2 | NA18963.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.169-576C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359725 | |||||||
chr14:50359782 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-633T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359782 | |||||||
chr14:50359797 | T | TA | 20 | a0001c0001t0002g0178 a0001c0001t0002g0214 a0001c0001t0002g0215 others(17): Show |
20 | HG01496.hp1 HG02074.hp2 HG02165.hp1 others(17): Show |
intron_variant | MODIFIER | c.169-649dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359797 | |||||||
chr14:50359797 | T | TAA | 156 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(153): Show |
157 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(154): Show |
intron_variant | MODIFIER | c.169-650_169-649dup others(2): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359797 | |||||||
chr14:50359797 | TA | T | 12 | a0001c0001t0004g0253 a0001c0001t0058g0111 a0001c0001t0068g0151 others(9): Show |
12 | HG00733.hp1 HG01258.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.169-649delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359797 | |||||||
chr14:50359853 | C | A | 1 | a0001c0001t0020g0177 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.169-704G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50359853 | |||||||
chr14:50360136 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-987T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360136 | |||||||
chr14:50360155 | A | G | 1 | a0001c0001t0006g0244 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.169-1006T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360155 | |||||||
chr14:50360340 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-1191T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360340 | |||||||
chr14:50360363 | TC | T | 11 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(8): Show |
11 | HG01891.hp1 HG02559.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.169-1215delG | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360363 | |||||||
chr14:50360594 | G | A | 2 | a0002c0002t0028g0008 a0002c0002t0094g0066 |
2 | NA19002.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.169-1445C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360594 | |||||||
chr14:50360717 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-1568G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360717 | |||||||
chr14:50360786 | T | TTG | 110 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(107): Show |
111 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.169-1639_169-1638d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | T | TTGTG | 19 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0173 others(16): Show |
19 | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.169-1641_169-1638d others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | T | TTGTGTG | 13 | a0001c0001t0001g0042 a0001c0001t0002g0184 a0001c0001t0044g0258 others(10): Show |
13 | HG01167.hp1 HG01169.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.169-1643_169-1638d others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | T | TTGTGTGT others(1): Show |
4 | a0001c0001t0019g0185 a0001c0001t0110g0219 a0001c0001t0112g0172 others(1): Show |
4 | HG01884.hp1 HG02258.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-1645_169-1638d others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | T | TTGTGTGT others(3): Show |
1 | a0001c0001t0016g0112 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.169-1647_169-1638d others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | TTG | T | 75 | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0073 others(72): Show |
75 | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(72): Show |
intron_variant | MODIFIER | c.169-1639_169-1638d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | TTGTG | T | 4 | a0001c0001t0001g0077 a0001c0001t0002g0211 a0002c0002t0003g0132 others(1): Show |
4 | HG02683.hp1 HG02970.hp1 NA18953.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-1641_169-1638d others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | TTGTGTG | T | 39 | a0001c0001t0001g0052 a0001c0001t0004g0120 a0001c0001t0016g0246 others(36): Show |
41 | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.169-1643_169-1638d others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | TTGTGTGT others(1): Show |
T | 5 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(2): Show |
5 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-1645_169-1638d others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360786 | TTGTGTGT others(3): Show |
T | 2 | a0001c0001t0132g0297 a0002c0002t0057g0110 |
2 | HG00323.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.169-1647_169-1638d others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360786 | |||||||
chr14:50360816 | G | A | 4 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(1): Show |
4 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-1667C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360816 | |||||||
chr14:50360836 | G | T | 12 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(9): Show |
12 | HG01891.hp1 HG02559.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.169-1687C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50360836 | |||||||
chr14:50361359 | C | T | 167 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(164): Show |
168 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(165): Show |
intron_variant | MODIFIER | c.169-2210G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361359 | |||||||
chr14:50361384 | C | T | 1 | a0001c0001t0001g0057 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.169-2235G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361384 | |||||||
chr14:50361604 | AC | A | 6 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(3): Show |
6 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-2456delG | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361604 | |||||||
chr14:50361610 | C | T | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-2461G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361610 | |||||||
chr14:50361631 | C | T | 1 | a0001c0001t0110g0219 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.169-2482G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361631 | |||||||
chr14:50361703 | G | A | 1 | a0001c0001t0023g0288 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.169-2554C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361703 | |||||||
chr14:50361768 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-2619G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361768 | |||||||
chr14:50361779 | G | A | 1 | a0001c0001t0114g0191 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.169-2630C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361779 | |||||||
chr14:50361815 | G | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-2666C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361815 | |||||||
chr14:50361821 | G | A | 1 | a0002c0002t0098g0091 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.169-2672C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361821 | |||||||
chr14:50361842 | C | G | 4 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0096g0165 others(1): Show |
4 | HG01891.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-2693G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361842 | |||||||
chr14:50361856 | ACTTGAGG others(4): Show |
A | 1 | a0002c0002t0102g0005 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.169-2718_169-2708d others(13): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361856 | |||||||
chr14:50361962 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.169-2813G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361962 | |||||||
chr14:50361978 | C | T | 2 | a0001c0001t0001g0027 a0001c0001t0001g0030 |
2 | NA18964.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.169-2829G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50361978 | |||||||
chr14:50362026 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-2877G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362026 | |||||||
chr14:50362120 | A | G | 240 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(237): Show |
241 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.169-2971T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362120 | |||||||
chr14:50362170 | A | AC | 9 | a0001c0001t0004g0127 a0001c0001t0020g0177 a0001c0001t0036g0230 others(6): Show |
9 | HG00741.hp1 HG01175.hp2 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.169-3022dupG | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362170 | |||||||
chr14:50362182 | C | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-3033G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362182 | |||||||
chr14:50362224 | C | A | 2 | a0002c0002t0015g0271 a0002c0002t0041g0276 |
2 | HG02055.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.169-3075G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362224 | |||||||
chr14:50362225 | G | A | 1 | a0002c0002t0005g0070 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.169-3076C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362225 | |||||||
chr14:50362237 | G | A | 2 | a0002c0002t0005g0036 a0002c0002t0005g0048 |
2 | NA18990.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.169-3088C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362237 | |||||||
chr14:50362257 | C | T | 2 | a0001c0001t0001g0017 a0001c0001t0001g0076 |
2 | NA18612.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.169-3108G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362257 | |||||||
chr14:50362312 | C | A | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-3163G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362312 | |||||||
chr14:50362450 | A | T | 1 | a0001c0001t0004g0139 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.169-3301T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362450 | |||||||
chr14:50362502 | G | A | 11 | a0001c0001t0046g0104 a0001c0001t0072g0153 a0001c0001t0073g0152 others(8): Show |
11 | HG01891.hp1 HG02559.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.169-3353C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362502 | |||||||
chr14:50362590 | G | GTCTAGCT others(34): Show |
6 | a0001c0001t0002g0215 a0001c0001t0018g0010 a0001c0001t0027g0247 others(3): Show |
6 | HG02027.hp1 HG02083.hp2 NA18964.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-3482_169-3442d others(43): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362590 | |||||||
chr14:50362618 | A | G | 7 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(4): Show |
7 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.169-3469T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362618 | |||||||
chr14:50362636 | G | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-3487C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362636 | |||||||
chr14:50362662 | A | C | 239 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(236): Show |
240 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.169-3513T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362662 | |||||||
chr14:50362662 | A | T | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169-3513T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362662 | |||||||
chr14:50362703 | G | C | 1 | a0001c0001t0001g0065 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.169-3554C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362703 | |||||||
chr14:50362718 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169-3569C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362718 | |||||||
chr14:50362804 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-3655G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362804 | |||||||
chr14:50362827 | G | T | 1 | a0001c0001t0132g0297 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.169-3678C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362827 | |||||||
chr14:50362842 | A | C | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.169-3693T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362842 | |||||||
chr14:50362883 | A | AACCTACC others(12): Show |
1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-3735_169-3734i others(21): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362883 | |||||||
chr14:50362926 | T | C | 2 | a0001c0001t0072g0153 a0001c0001t0073g0152 |
2 | HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.169-3777A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362926 | |||||||
chr14:50362998 | C | A | 2 | a0001c0001t0075g0154 a0001c0001t0076g0155 |
2 | HG02647.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.169-3849G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50362998 | |||||||
chr14:50363028 | C | G | 1 | a0001c0001t0004g0134 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.169-3879G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363028 | |||||||
chr14:50363041 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169-3892C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363041 | |||||||
chr14:50363060 | A | G | 8 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(5): Show |
8 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.169-3911T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363060 | |||||||
chr14:50363222 | G | T | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-4073C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363222 | |||||||
chr14:50363395 | G | A | 12 | a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0004g0120 others(9): Show |
12 | HG00438.hp2 HG01978.hp1 HG01993.hp1 others(9): Show |
intron_variant | MODIFIER | c.169-4246C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363395 | |||||||
chr14:50363423 | T | C | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-4274A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363423 | |||||||
chr14:50363483 | T | C | 1 | a0001c0001t0004g0144 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.169-4334A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363483 | |||||||
chr14:50363534 | A | G | 2 | a0002c0002t0022g0278 a0002c0002t0042g0277 |
2 | NA18963.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.169-4385T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363534 | |||||||
chr14:50363613 | C | T | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-4464G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363613 | |||||||
chr14:50363626 | T | C | 1 | a0002c0002t0029g0020 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.169-4477A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363626 | |||||||
chr14:50363771 | G | A | 117 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(114): Show |
118 | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.169-4622C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363771 | |||||||
chr14:50363788 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169-4639C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363788 | |||||||
chr14:50363847 | C | T | 1 | a0001c0001t0002g0193 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.169-4698G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50363847 | |||||||
chr14:50364167 | C | G | 9 | a0001c0001t0058g0111 a0001c0001t0097g0166 a0001c0001t0110g0219 others(6): Show |
9 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.169-5018G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50364167 | |||||||
chr14:50364196 | G | T | 180 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(177): Show |
181 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(178): Show |
intron_variant | MODIFIER | c.169-5047C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50364196 | |||||||
chr14:50364252 | T | C | 11 | a0001c0001t0058g0111 a0001c0001t0097g0166 a0001c0001t0110g0219 others(8): Show |
11 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.169-5103A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50364252 | |||||||
chr14:50364621 | A | T | 5 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(2): Show |
5 | HG01433.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-5472T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50364621 | |||||||
chr14:50364938 | A | C | 169 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(166): Show |
170 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.169-5789T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50364938 | |||||||
chr14:50365168 | T | C | 1 | a0002c0002t0028g0009 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.169-6019A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365168 | |||||||
chr14:50365781 | G | A | 1 | a0002c0002t0029g0020 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.169-6632C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365781 | |||||||
chr14:50365847 | G | A | 1 | a0001c0001t0051g0108 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.169-6698C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365847 | |||||||
chr14:50365886 | C | T | 1 | a0001c0001t0023g0294 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.169-6737G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365886 | |||||||
chr14:50365938 | G | A | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-6789C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365938 | |||||||
chr14:50365953 | C | A | 47 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 others(44): Show |
47 | HG00408.hp1 HG00423.hp1 HG00609.hp2 others(44): Show |
intron_variant | MODIFIER | c.169-6804G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50365953 | |||||||
chr14:50366015 | G | A | 1 | a0001c0001t0073g0152 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.169-6866C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366015 | |||||||
chr14:50366145 | T | A | 1 | a0001c0001t0006g0249 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.169-6996A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366145 | |||||||
chr14:50366469 | G | A | 6 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(3): Show |
6 | HG01891.hp1 HG02647.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-7320C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366469 | |||||||
chr14:50366507 | G | T | 6 | a0001c0001t0002g0211 a0001c0001t0035g0226 a0001c0001t0035g0227 others(3): Show |
6 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-7358C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366507 | |||||||
chr14:50366544 | G | A | 183 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(180): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.169-7395C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366544 | |||||||
chr14:50366588 | G | A | 1 | a0001c0001t0052g0107 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.169-7439C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366588 | |||||||
chr14:50366676 | G | A | 1 | a0001c0001t0062g0149 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.169-7527C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366676 | |||||||
chr14:50366681 | C | T | 1 | a0002c0002t0005g0050 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.169-7532G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366681 | |||||||
chr14:50366741 | G | A | 11 | a0001c0001t0058g0111 a0001c0001t0097g0166 a0001c0001t0110g0219 others(8): Show |
11 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.169-7592C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366741 | |||||||
chr14:50366771 | G | GTGTCAAA others(28): Show |
2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-7657_169-7623d others(37): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366771 | |||||||
chr14:50366827 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-7678A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50366827 | |||||||
chr14:50367113 | G | T | 51 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(48): Show |
51 | HG00140.hp1 HG00597.hp1 HG00673.hp1 others(48): Show |
intron_variant | MODIFIER | c.169-7964C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367113 | |||||||
chr14:50367541 | C | T | 170 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(167): Show |
171 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.169-8392G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367541 | |||||||
chr14:50367654 | G | A | 236 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(233): Show |
237 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.169-8505C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367654 | |||||||
chr14:50367776 | G | T | 140 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
141 | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(138): Show |
intron_variant | MODIFIER | c.169-8627C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367776 | |||||||
chr14:50367839 | C | T | 35 | a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0077 others(32): Show |
35 | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.169-8690G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367839 | |||||||
chr14:50367861 | T | G | 179 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show |
180 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.169-8712A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50367861 | |||||||
chr14:50368316 | G | A | 1 | a0002c0002t0056g0248 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.169-9167C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368316 | |||||||
chr14:50368435 | T | A | 4 | a0001c0001t0002g0211 a0001c0001t0068g0151 a0001c0001t0103g0004 others(1): Show |
4 | HG01261.hp2 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-9286A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368435 | |||||||
chr14:50368436 | A | T | 1 | a0001c0001t0020g0177 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.169-9287T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368436 | |||||||
chr14:50368464 | A | G | 7 | a0001c0001t0097g0166 a0002c0002t0024g0260 a0002c0002t0024g0261 others(4): Show |
7 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.169-9315T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368464 | |||||||
chr14:50368557 | C | A | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG01891.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-9408G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368557 | |||||||
chr14:50368608 | A | C | 3 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0006c0006t0120g0221 |
3 | HG01891.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.169-9459T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368608 | |||||||
chr14:50368741 | G | A | 6 | a0001c0001t0001g0052 a0002c0002t0012g0123 a0002c0002t0012g0124 others(3): Show |
6 | HG00609.hp1 HG02015.hp2 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-9592C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368741 | |||||||
chr14:50368808 | C | A | 1 | a0002c0002t0003g0143 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.169-9659G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368808 | |||||||
chr14:50368866 | C | CT | 43 | a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0077 others(40): Show |
43 | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(40): Show |
intron_variant | MODIFIER | c.169-9718dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368866 | |||||||
chr14:50368866 | CT | C | 6 | a0001c0001t0001g0049 a0001c0001t0037g0232 a0002c0002t0008g0088 others(3): Show |
6 | HG01169.hp1 HG01257.hp1 HG02015.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-9718delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368866 | |||||||
chr14:50368886 | A | G | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-9737T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368886 | |||||||
chr14:50368981 | C | G | 35 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(32): Show |
35 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.169-9832G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50368981 | |||||||
chr14:50369116 | C | T | 44 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.169-9967G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369116 | |||||||
chr14:50369162 | C | T | 1 | a0001c0001t0006g0249 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.169-10013G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369162 | |||||||
chr14:50369163 | G | A | 1 | a0001c0001t0104g0006 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.169-10014C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369163 | |||||||
chr14:50369329 | C | T | 4 | a0001c0001t0002g0211 a0001c0001t0068g0151 a0001c0001t0103g0004 others(1): Show |
4 | HG01261.hp2 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-10180G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369329 | |||||||
chr14:50369608 | G | GCA | 104 | a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0057 others(101): Show |
106 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(103): Show |
intron_variant | MODIFIER | c.169-10461_169-1046 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369608 | |||||||
chr14:50369608 | GCA | G | 169 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(166): Show |
170 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.169-10461_169-1046 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369608 | |||||||
chr14:50369608 | GCACA | G | 10 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(7): Show |
10 | HG01433.hp1 HG01891.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.169-10463_169-1046 others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369608 | |||||||
chr14:50369612 | A | G | 5 | a0001c0001t0004g0125 a0001c0001t0075g0154 a0001c0001t0076g0155 others(2): Show |
5 | HG01123.hp2 HG01891.hp1 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-10463T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369612 | |||||||
chr14:50369614 | A | G | 3 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0006c0006t0120g0221 |
3 | HG01891.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.169-10465T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369614 | |||||||
chr14:50369635 | C | T | 2 | a0001c0001t0046g0104 a0001c0001t0087g0069 |
2 | HG03195.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.169-10486G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369635 | |||||||
chr14:50369637 | T | C | 5 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(2): Show |
5 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-10488A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369637 | |||||||
chr14:50369648 | T | C | 30 | a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0077 others(27): Show |
30 | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.169-10499A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369648 | |||||||
chr14:50369750 | C | T | 1 | a0001c0001t0097g0166 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.169-10601G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369750 | |||||||
chr14:50369775 | C | A | 1 | a0001c0001t0002g0189 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.169-10626G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50369775 | |||||||
chr14:50370002 | T | C | 4 | a0001c0001t0002g0211 a0001c0001t0068g0151 a0001c0001t0103g0004 others(1): Show |
4 | HG01261.hp2 HG02922.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-10853A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370002 | |||||||
chr14:50370025 | CT | C | 8 | a0001c0001t0090g0063 a0001c0001t0097g0166 a0002c0002t0024g0260 others(5): Show |
8 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.169-10877delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370025 | |||||||
chr14:50370090 | A | G | 1 | a0001c0001t0058g0111 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.169-10941T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370090 | |||||||
chr14:50370276 | C | A | 1 | a0001c0001t0125g0263 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.169-11127G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370276 | |||||||
chr14:50370348 | C | A | 44 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(41): Show |
44 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(41): Show |
intron_variant | MODIFIER | c.169-11199G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370348 | |||||||
chr14:50370577 | A | G | 2 | a0001c0001t0004g0120 a0001c0001t0069g0128 |
2 | NA19002.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.169-11428T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370577 | |||||||
chr14:50370655 | C | T | 2 | a0001c0001t0046g0104 a0001c0001t0087g0069 |
2 | HG03195.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.169-11506G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370655 | |||||||
chr14:50370785 | G | A | 1 | a0001c0001t0016g0113 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.169-11636C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370785 | |||||||
chr14:50370837 | A | C | 2 | a0001c0001t0004g0148 a0001c0001t0013g0064 |
2 | NA18939.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.169-11688T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50370837 | |||||||
chr14:50371191 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-12042A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50371191 | |||||||
chr14:50371379 | C | T | 2 | a0001c0001t0002g0215 a0001c0001t0105g0169 |
2 | NA18964.hp2 NA18997.hp1 |
intron_variant | MODIFIER | c.169-12230G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50371379 | |||||||
chr14:50371390 | A | G | 1 | a0001c0001t0096g0165 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.169-12241T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50371390 | |||||||
chr14:50371533 | G | T | 1 | a0002c0002t0012g0122 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.169-12384C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50371533 | |||||||
chr14:50371627 | T | C | 235 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(232): Show |
236 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(233): Show |
intron_variant | MODIFIER | c.169-12478A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50371627 | |||||||
chr14:50372105 | T | G | 228 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(225): Show |
228 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.169-12956A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50372105 | |||||||
chr14:50372167 | G | A | 49 | a0001c0001t0002g0211 a0001c0001t0016g0112 a0001c0001t0016g0113 others(46): Show |
49 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(46): Show |
intron_variant | MODIFIER | c.169-13018C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50372167 | |||||||
chr14:50372253 | G | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.169-13104C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50372253 | |||||||
chr14:50372896 | A | AT | 135 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(132): Show |
136 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.169-13748dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50372896 | |||||||
chr14:50372909 | C | G | 1 | a0001c0001t0127g0264 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.169-13760G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50372909 | |||||||
chr14:50373102 | T | C | 45 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(42): Show |
46 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.169-13953A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373102 | |||||||
chr14:50373272 | A | G | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-14123T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373272 | |||||||
chr14:50373289 | G | A | 49 | a0001c0001t0002g0211 a0001c0001t0016g0112 a0001c0001t0016g0113 others(46): Show |
49 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(46): Show |
intron_variant | MODIFIER | c.169-14140C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373289 | |||||||
chr14:50373324 | G | A | 1 | a0002c0002t0003g0141 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.169-14175C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373324 | |||||||
chr14:50373485 | A | G | 2 | a0001c0001t0097g0166 a0002c0002t0138g0300 |
2 | HG02976.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.169-14336T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373485 | |||||||
chr14:50373555 | C | G | 2 | a0001c0001t0068g0151 a0001c0001t0103g0004 |
2 | HG01261.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.169-14406G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373555 | |||||||
chr14:50373571 | C | A | 5 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0001c0001t0049g0106 others(2): Show |
5 | HG01433.hp1 HG02965.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-14422G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373571 | |||||||
chr14:50373577 | A | T | 1 | a0002c0002t0015g0267 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.169-14428T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373577 | |||||||
chr14:50373584 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.169-14435G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373584 | |||||||
chr14:50373827 | G | A | 2 | a0005c0005t0133g0255 a0005c0005t0134g0256 |
2 | HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.169-14678C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373827 | |||||||
chr14:50373994 | T | C | 42 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(39): Show |
42 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.169-14845A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50373994 | |||||||
chr14:50374069 | C | G | 1 | a0002c0002t0053g0235 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.169-14920G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374069 | |||||||
chr14:50374076 | C | T | 51 | a0001c0001t0002g0211 a0001c0001t0016g0112 a0001c0001t0016g0113 others(48): Show |
51 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(48): Show |
intron_variant | MODIFIER | c.169-14927G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374076 | |||||||
chr14:50374091 | C | T | 2 | a0002c0002t0029g0020 a0006c0006t0120g0221 |
2 | HG01891.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.169-14942G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374091 | |||||||
chr14:50374281 | G | C | 1 | a0002c0002t0010g0197 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.169-15132C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374281 | |||||||
chr14:50374389 | G | A | 128 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(125): Show |
129 | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.169-15240C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374389 | |||||||
chr14:50374613 | C | G | 4 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0112g0172 others(1): Show |
4 | HG02109.hp1 HG02970.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-15464G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374613 | |||||||
chr14:50374628 | T | C | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169-15479A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374628 | |||||||
chr14:50374708 | C | T | 226 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(223): Show |
227 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.169-15559G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374708 | |||||||
chr14:50374804 | C | A | 1 | a0002c0002t0005g0071 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.169-15655G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374804 | |||||||
chr14:50374887 | T | C | 1 | a0001c0001t0004g0139 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.169-15738A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374887 | |||||||
chr14:50374925 | T | C | 6 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0068g0151 others(3): Show |
6 | HG01261.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-15776A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374925 | |||||||
chr14:50374972 | C | G | 2 | a0005c0005t0133g0255 a0005c0005t0134g0256 |
2 | HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.169-15823G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50374972 | |||||||
chr14:50375100 | A | G | 6 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0068g0151 others(3): Show |
6 | HG01261.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-15951T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375100 | |||||||
chr14:50375562 | G | A | 36 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(33): Show |
37 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.169-16413C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375562 | |||||||
chr14:50375570 | G | A | 5 | a0002c0002t0007g0031 a0002c0002t0007g0053 a0002c0002t0007g0055 others(2): Show |
5 | HG02559.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-16421C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375570 | |||||||
chr14:50375622 | C | A | 1 | a0001c0001t0001g0078 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.169-16473G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375622 | |||||||
chr14:50375642 | C | T | 6 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0068g0151 others(3): Show |
6 | HG01261.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-16493G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375642 | |||||||
chr14:50375732 | G | A | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG01891.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-16583C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375732 | |||||||
chr14:50375746 | G | A | 3 | a0001c0001t0002g0192 a0001c0001t0114g0191 a0002c0002t0122g0229 |
3 | HG01070.hp2 HG02486.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.169-16597C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375746 | |||||||
chr14:50375778 | C | G | 23 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 others(20): Show |
23 | HG00438.hp1 HG00621.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.169-16629G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375778 | |||||||
chr14:50375825 | T | A | 1 | a0002c0002t0003g0140 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.169-16676A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375825 | |||||||
chr14:50375844 | T | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(128): Show |
132 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(129): Show |
intron_variant | MODIFIER | c.169-16695A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375844 | |||||||
chr14:50375900 | G | T | 2 | a0002c0002t0031g0167 a0002c0002t0031g0168 |
2 | HG01071.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.169-16751C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375900 | |||||||
chr14:50375912 | C | T | 270 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(267): Show |
273 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(270): Show |
intron_variant | MODIFIER | c.169-16763G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50375912 | |||||||
chr14:50376112 | A | T | 1 | a0001c0001t0104g0006 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.169-16963T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376112 | |||||||
chr14:50376126 | A | G | 232 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(229): Show |
234 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(231): Show |
intron_variant | MODIFIER | c.169-16977T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376126 | |||||||
chr14:50376137 | A | G | 230 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(227): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.169-16988T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376137 | |||||||
chr14:50376301 | A | G | 1 | a0002c0002t0139g0302 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.169-17152T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376301 | |||||||
chr14:50376482 | C | T | 1 | a0001c0001t0004g0134 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.169-17333G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376482 | |||||||
chr14:50376669 | T | C | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG01891.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-17520A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376669 | |||||||
chr14:50376812 | A | G | 46 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0023g0274 others(43): Show |
47 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.169-17663T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50376812 | |||||||
chr14:50377087 | C | T | 2 | a0001c0001t0046g0104 a0001c0001t0087g0069 |
2 | HG03195.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.169-17938G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377087 | |||||||
chr14:50377181 | C | A | 2 | a0002c0002t0039g0265 a0002c0002t0039g0266 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.169-18032G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377181 | |||||||
chr14:50377251 | G | C | 2 | a0002c0002t0039g0265 a0002c0002t0039g0266 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.169-18102C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377251 | |||||||
chr14:50377401 | T | C | 58 | a0001c0001t0002g0211 a0001c0001t0016g0112 a0001c0001t0016g0113 others(55): Show |
59 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(56): Show |
intron_variant | MODIFIER | c.169-18252A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377401 | |||||||
chr14:50377518 | G | T | 2 | a0001c0001t0004g0148 a0001c0001t0013g0064 |
2 | NA18939.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.168+18183C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377518 | |||||||
chr14:50377538 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.168+18163A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377538 | |||||||
chr14:50377649 | G | GA | 230 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(227): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.168+18051dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377649 | |||||||
chr14:50377754 | C | T | 7 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0068g0151 others(4): Show |
7 | HG01261.hp2 HG02109.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+17947G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50377754 | |||||||
chr14:50378075 | C | T | 2 | a0001c0001t0097g0166 a0002c0002t0100g0097 |
2 | HG01934.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.168+17626G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378075 | |||||||
chr14:50378138 | A | G | 230 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(227): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.168+17563T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378138 | |||||||
chr14:50378161 | T | A | 1 | a0002c0002t0003g0141 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.168+17540A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378161 | |||||||
chr14:50378336 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+17365G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378336 | |||||||
chr14:50378410 | C | T | 7 | a0001c0001t0002g0211 a0001c0001t0058g0111 a0001c0001t0068g0151 others(4): Show |
7 | HG01261.hp2 HG02109.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+17291G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378410 | |||||||
chr14:50378513 | C | A | 161 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(158): Show |
162 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.168+17188G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378513 | |||||||
chr14:50378583 | G | C | 1 | a0001c0001t0004g0144 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.168+17118C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378583 | |||||||
chr14:50378595 | A | T | 166 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(163): Show |
167 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.168+17106T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378595 | |||||||
chr14:50378603 | C | T | 4 | a0001c0001t0110g0219 a0004c0004t0021g0217 a0004c0004t0021g0218 others(1): Show |
4 | HG01884.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+17098G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378603 | |||||||
chr14:50378609 | C | G | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG01891.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.168+17092G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378609 | |||||||
chr14:50378687 | C | A | 1 | a0001c0001t0016g0246 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.168+17014G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378687 | |||||||
chr14:50378692 | G | A | 2 | a0001c0001t0046g0104 a0001c0001t0087g0069 |
2 | HG03195.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.168+17009C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378692 | |||||||
chr14:50378815 | A | T | 1 | a0002c0002t0009g0037 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.168+16886T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378815 | |||||||
chr14:50378854 | CT | C | 10 | a0001c0001t0046g0104 a0001c0001t0087g0069 a0002c0002t0010g0194 others(7): Show |
10 | HG01169.hp1 HG01891.hp1 HG02735.hp2 others(7): Show |
intron_variant | MODIFIER | c.168+16846delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50378854 | |||||||
chr14:50379048 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+16653G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50379048 | |||||||
chr14:50379132 | G | A | 2 | a0002c0002t0042g0282 a0002c0002t0045g0103 |
2 | HG00733.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.168+16569C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50379132 | |||||||
chr14:50379394 | T | C | 2 | a0001c0001t0004g0148 a0001c0001t0013g0064 |
2 | NA18939.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.168+16307A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50379394 | |||||||
chr14:50379551 | G | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+16150C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50379551 | |||||||
chr14:50379908 | C | T | 1 | a0002c0002t0130g0295 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.168+15793G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50379908 | |||||||
chr14:50380067 | A | G | 1 | a0001c0001t0099g0093 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.168+15634T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380067 | |||||||
chr14:50380292 | G | A | 2 | a0001c0001t0001g0083 a0001c0001t0006g0237 |
2 | HG00140.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.168+15409C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380292 | |||||||
chr14:50380389 | G | A | 70 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(67): Show |
71 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.168+15312C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380389 | |||||||
chr14:50380410 | T | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+15291A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380410 | |||||||
chr14:50380589 | G | A | 1 | a0002c0002t0056g0248 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.168+15112C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380589 | |||||||
chr14:50380589 | G | C | 1 | a0001c0001t0002g0212 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.168+15112C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380589 | |||||||
chr14:50380606 | C | T | 1 | a0002c0002t0010g0194 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.168+15095G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380606 | |||||||
chr14:50380774 | C | T | 130 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(127): Show |
132 | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(129): Show |
intron_variant | MODIFIER | c.168+14927G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380774 | |||||||
chr14:50380802 | C | CTTTGGTT others(29): Show |
1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+14898_168+1489 others(40): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(9): Show |
1 | a0001c0001t0001g0001 | 2 | HG02615.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.168+14898_168+1489 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(6): Show |
9 | a0001c0001t0002g0211 a0001c0001t0035g0227 a0001c0001t0043g0292 others(6): Show |
9 | HG00733.hp2 HG02145.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.168+14898_168+1489 others(17): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(7): Show |
2 | a0001c0001t0035g0226 a0002c0002t0045g0103 |
2 | HG02145.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.168+14898_168+1489 others(18): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(8): Show |
4 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0104g0006 others(1): Show |
4 | HG01261.hp2 HG01496.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.168+14898_168+1489 others(19): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(9): Show |
103 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(100): Show |
104 | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.168+14898_168+1489 others(20): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(10): Show |
17 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0034 others(14): Show |
17 | HG00438.hp1 HG00621.hp1 HG00639.hp1 others(14): Show |
intron_variant | MODIFIER | c.168+14898_168+1489 others(21): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380802 | C | CTTTGTTT others(11): Show |
1 | a0001c0001t0001g0032 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.168+14898_168+1489 others(22): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380802 | |||||||
chr14:50380812 | T | G | 2 | a0002c0002t0042g0282 a0002c0002t0045g0103 |
2 | HG00733.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.168+14889A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380812 | |||||||
chr14:50380958 | T | C | 68 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(65): Show |
69 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.168+14743A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50380958 | |||||||
chr14:50381043 | T | A | 5 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(2): Show |
5 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+14658A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381043 | |||||||
chr14:50381047 | T | C | 2 | a0001c0001t0072g0153 a0001c0001t0073g0152 |
2 | HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.168+14654A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381047 | |||||||
chr14:50381066 | G | A | 100 | a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0083 others(97): Show |
101 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(98): Show |
intron_variant | MODIFIER | c.168+14635C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381066 | |||||||
chr14:50381078 | G | C | 123 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(120): Show |
125 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.168+14623C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381078 | |||||||
chr14:50381143 | A | G | 224 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(221): Show |
227 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.168+14558T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381143 | |||||||
chr14:50381153 | T | G | 4 | a0001c0001t0075g0154 a0001c0001t0076g0155 a0005c0005t0133g0255 others(1): Show |
4 | HG02647.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+14548A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381153 | |||||||
chr14:50381182 | A | G | 68 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(65): Show |
69 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.168+14519T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381182 | |||||||
chr14:50381251 | T | G | 1 | a0001c0001t0001g0062 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.168+14450A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381251 | |||||||
chr14:50381468 | T | G | 5 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(2): Show |
5 | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+14233A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381468 | |||||||
chr14:50381498 | C | T | 1 | a0002c0002t0015g0267 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.168+14203G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381498 | |||||||
chr14:50381501 | G | A | 1 | a0001c0001t0002g0193 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.168+14200C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381501 | |||||||
chr14:50381555 | G | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+14146C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381555 | |||||||
chr14:50381733 | G | C | 4 | a0001c0001t0002g0192 a0001c0001t0114g0191 a0002c0002t0003g0118 others(1): Show |
4 | HG01070.hp2 HG02486.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+13968C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381733 | |||||||
chr14:50381754 | TTTTG | T | 22 | a0001c0001t0001g0062 a0001c0001t0002g0223 a0001c0001t0004g0252 others(19): Show |
22 | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(19): Show |
intron_variant | MODIFIER | c.168+13943_168+1394 others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381754 | |||||||
chr14:50381754 | TTTTGTTT others(1): Show |
T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(139): Show |
144 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.168+13939_168+1394 others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381754 | |||||||
chr14:50381754 | TTTTGTTT others(5): Show |
T | 57 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(54): Show |
58 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.168+13935_168+1394 others(16): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381754 | |||||||
chr14:50381769 | T | C | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.168+13932A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381769 | |||||||
chr14:50381905 | T | C | 1 | a0001c0001t0001g0001 | 2 | HG02615.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.168+13796A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381905 | |||||||
chr14:50381907 | G | A | 2 | a0001c0001t0046g0104 a0001c0001t0087g0069 |
2 | HG03195.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.168+13794C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381907 | |||||||
chr14:50381965 | T | C | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+13736A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50381965 | |||||||
chr14:50382175 | G | A | 67 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(64): Show |
69 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show |
intron_variant | MODIFIER | c.168+13526C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382175 | |||||||
chr14:50382239 | T | A | 3 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0058g0111 |
3 | HG02109.hp1 HG02809.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.168+13462A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382239 | |||||||
chr14:50382242 | C | G | 1 | a0001c0001t0002g0174 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.168+13459G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382242 | |||||||
chr14:50382256 | T | C | 156 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(153): Show |
157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.168+13445A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382256 | |||||||
chr14:50382287 | C | G | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+13414G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382287 | |||||||
chr14:50382314 | G | A | 75 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(72): Show |
77 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.168+13387C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382314 | |||||||
chr14:50382398 | C | G | 1 | a0001c0001t0054g0245 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.168+13303G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382398 | |||||||
chr14:50382433 | A | G | 1 | a0001c0001t0001g0062 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.168+13268T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382433 | |||||||
chr14:50382442 | C | T | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+13259G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382442 | |||||||
chr14:50382459 | A | G | 1 | a0002c0002t0118g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.168+13242T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382459 | |||||||
chr14:50382459 | A | T | 19 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(16): Show |
19 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.168+13242T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382459 | |||||||
chr14:50382459 | AT | A | 7 | a0001c0001t0013g0072 a0002c0002t0007g0031 a0002c0002t0007g0053 others(4): Show |
7 | HG02280.hp2 HG02559.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+13241delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382459 | |||||||
chr14:50382460 | T | A | 11 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 others(8): Show |
11 | HG01884.hp1 HG01891.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.168+13241A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382460 | |||||||
chr14:50382464 | T | G | 1 | a0001c0001t0115g0170 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.168+13237A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382464 | |||||||
chr14:50382497 | C | T | 27 | a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0004g0252 others(24): Show |
27 | HG00280.hp1 HG00408.hp2 HG00733.hp2 others(24): Show |
intron_variant | MODIFIER | c.168+13204G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382497 | |||||||
chr14:50382542 | C | CTCCT | 153 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(150): Show |
154 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(151): Show |
intron_variant | MODIFIER | c.168+13155_168+1315 others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382542 | |||||||
chr14:50382561 | C | A | 1 | a0001c0001t0004g0150 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.168+13140G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382561 | |||||||
chr14:50382562 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13139G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382562 | |||||||
chr14:50382576 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13125A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382576 | |||||||
chr14:50382580 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13121G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382580 | |||||||
chr14:50382585 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13116A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382585 | |||||||
chr14:50382588 | T | C | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13113A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382588 | |||||||
chr14:50382592 | C | T | 1 | a0001c0001t0090g0063 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.168+13109G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382592 | |||||||
chr14:50382626 | ACT | A | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG02647.hp2 HG03130.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+13073_168+1307 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382626 | |||||||
chr14:50382679 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.168+13022C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382679 | |||||||
chr14:50382684 | T | C | 229 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(226): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.168+13017A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382684 | |||||||
chr14:50382689 | G | C | 1 | a0001c0001t0126g0268 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.168+13012C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382689 | |||||||
chr14:50382742 | C | T | 153 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(150): Show |
154 | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(151): Show |
intron_variant | MODIFIER | c.168+12959G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382742 | |||||||
chr14:50382756 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+12945C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382756 | |||||||
chr14:50382768 | AT | A | 64 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(61): Show |
66 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(63): Show |
intron_variant | MODIFIER | c.168+12932delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382768 | |||||||
chr14:50382930 | GT | G | 6 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 others(3): Show |
6 | HG01081.hp1 HG03239.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.168+12770delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382930 | |||||||
chr14:50382930 | GTT | G | 221 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(218): Show |
224 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.168+12769_168+1277 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382930 | |||||||
chr14:50382942 | T | C | 55 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(52): Show |
57 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.168+12759A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382942 | |||||||
chr14:50382959 | G | C | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+12742C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50382959 | |||||||
chr14:50383109 | T | C | 1 | a0001c0001t0002g0193 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.168+12592A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383109 | |||||||
chr14:50383119 | G | A | 3 | a0001c0001t0127g0264 a0002c0002t0039g0265 a0002c0002t0039g0266 |
3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.168+12582C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383119 | |||||||
chr14:50383149 | C | G | 228 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(225): Show |
231 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(228): Show |
intron_variant | MODIFIER | c.168+12552G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383149 | |||||||
chr14:50383171 | T | C | 229 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(226): Show |
232 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.168+12530A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383171 | |||||||
chr14:50383267 | C | T | 2 | a0005c0005t0133g0255 a0005c0005t0134g0256 |
2 | HG02809.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.168+12434G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383267 | |||||||
chr14:50383347 | C | T | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.168+12354G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383347 | |||||||
chr14:50383465 | G | A | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.168+12236C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383465 | |||||||
chr14:50383550 | C | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+12151G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383550 | |||||||
chr14:50383550 | CAA | C | 24 | a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0004g0252 others(21): Show |
24 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.168+12149_168+1215 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383550 | |||||||
chr14:50383550 | CAAA | C | 181 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(178): Show |
184 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.168+12148_168+1215 others(7): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383550 | |||||||
chr14:50383562 | A | C | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG02647.hp2 HG03130.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+12139T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383562 | |||||||
chr14:50383564 | A | C | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+12137T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383564 | |||||||
chr14:50383567 | AAACAAC | A | 5 | a0001c0001t0072g0153 a0001c0001t0073g0152 a0001c0001t0075g0154 others(2): Show |
5 | HG02647.hp2 HG03130.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+12128_168+1213 others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383567 | |||||||
chr14:50383571 | AAC | A | 207 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(204): Show |
210 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(207): Show |
intron_variant | MODIFIER | c.168+12128_168+1212 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383571 | |||||||
chr14:50383581 | A | G | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+12120T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383581 | |||||||
chr14:50383653 | A | G | 1 | a0002c0002t0079g0158 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.168+12048T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383653 | |||||||
chr14:50383864 | T | C | 1 | a0003c0003t0008g0075 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.168+11837A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383864 | |||||||
chr14:50383925 | G | A | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+11776C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50383925 | |||||||
chr14:50384114 | G | T | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+11587C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384114 | |||||||
chr14:50384172 | C | T | 1 | a0001c0001t0043g0292 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.168+11529G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384172 | |||||||
chr14:50384279 | A | G | 1 | a0001c0001t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.168+11422T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384279 | |||||||
chr14:50384436 | G | C | 1 | a0003c0003t0008g0075 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.168+11265C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384436 | |||||||
chr14:50384530 | G | C | 5 | a0001c0001t0002g0211 a0001c0001t0046g0104 a0001c0001t0087g0069 others(2): Show |
5 | HG02647.hp1 HG02970.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.168+11171C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384530 | |||||||
chr14:50384612 | A | G | 2 | a0001c0001t0002g0211 a0002c0002t0029g0020 |
2 | HG02647.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.168+11089T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384612 | |||||||
chr14:50384667 | G | C | 2 | a0001c0001t0075g0154 a0001c0001t0076g0155 |
2 | HG02647.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.168+11034C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384667 | |||||||
chr14:50384682 | C | CT | 44 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(41): Show |
45 | HG00280.hp2 HG00639.hp2 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.168+11018dupA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384682 | |||||||
chr14:50384682 | CT | C | 44 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0173 others(41): Show |
45 | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(42): Show |
intron_variant | MODIFIER | c.168+11018delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384682 | |||||||
chr14:50384769 | A | G | 2 | a0001c0001t0075g0154 a0001c0001t0076g0155 |
2 | HG02647.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.168+10932T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384769 | |||||||
chr14:50384784 | T | C | 1 | a0002c0002t0003g0146 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.168+10917A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384784 | |||||||
chr14:50384787 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.168+10914G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384787 | |||||||
chr14:50384793 | T | C | 169 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(166): Show |
171 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(168): Show |
intron_variant | MODIFIER | c.168+10908A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384793 | |||||||
chr14:50384859 | C | G | 16 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(13): Show |
16 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.168+10842G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50384859 | |||||||
chr14:50385025 | C | T | 3 | a0001c0001t0035g0226 a0001c0001t0035g0227 a0001c0001t0043g0292 |
3 | HG02145.hp1 HG02451.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.168+10676G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385025 | |||||||
chr14:50385070 | C | CA | 20 | a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0016g0112 others(17): Show |
20 | HG01071.hp2 HG01109.hp1 HG01175.hp2 others(17): Show |
intron_variant | MODIFIER | c.168+10630dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | C | CAA | 7 | a0001c0001t0004g0144 a0001c0001t0110g0219 a0002c0002t0003g0142 others(4): Show |
7 | HG00323.hp1 HG00597.hp2 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+10629_168+1063 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CA | C | 18 | a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0125 others(15): Show |
18 | HG00438.hp2 HG01099.hp1 HG01123.hp2 others(15): Show |
intron_variant | MODIFIER | c.168+10630delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAA | C | 7 | a0001c0001t0006g0250 a0001c0001t0016g0246 a0001c0001t0027g0247 others(4): Show |
7 | HG00738.hp1 HG01169.hp1 HG02027.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+10629_168+1063 others(6): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAA | C | 10 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(7): Show |
10 | HG00408.hp2 HG02015.hp1 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.168+10628_168+1063 others(7): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(1): Show |
C | 7 | a0001c0001t0002g0209 a0001c0001t0050g0109 a0001c0001t0073g0152 others(4): Show |
7 | HG01256.hp2 HG01934.hp2 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.168+10623_168+1063 others(12): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(2): Show |
C | 26 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(23): Show |
27 | HG00140.hp1 HG01099.hp2 HG01257.hp1 others(24): Show |
intron_variant | MODIFIER | c.168+10622_168+1063 others(13): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(3): Show |
C | 4 | a0001c0001t0068g0151 a0001c0001t0103g0004 a0001c0001t0104g0006 others(1): Show |
4 | HG01261.hp2 HG01496.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.168+10621_168+1063 others(14): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(6): Show |
C | 2 | a0001c0001t0035g0226 a0001c0001t0035g0227 |
2 | HG02451.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.168+10618_168+1063 others(17): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0001g0062 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.168+10616_168+1063 others(19): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(10): Show |
C | 4 | a0001c0001t0001g0060 a0001c0001t0002g0203 a0001c0001t0013g0061 others(1): Show |
4 | HG01981.hp2 HG02165.hp2 NA19067.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+10614_168+1063 others(21): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(11): Show |
C | 120 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(117): Show |
121 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(118): Show |
intron_variant | MODIFIER | c.168+10613_168+1063 others(22): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(12): Show |
C | 4 | a0001c0001t0002g0222 a0001c0001t0006g0249 a0001c0001t0013g0072 others(1): Show |
4 | HG01243.hp2 HG02895.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.168+10612_168+1063 others(23): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(14): Show |
C | 1 | a0002c0008t0071g0115 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.168+10610_168+1063 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(15): Show |
C | 31 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(28): Show |
32 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(29): Show |
intron_variant | MODIFIER | c.168+10609_168+1063 others(26): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385070 | CAAAAAAA others(16): Show |
C | 2 | a0002c0002t0015g0284 a0002c0002t0038g0283 |
2 | HG01884.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.168+10608_168+1063 others(27): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385070 | |||||||
chr14:50385348 | C | T | 1 | a0001c0001t0014g0206 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.168+10353G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385348 | |||||||
chr14:50385462 | A | G | 32 | a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0004g0252 others(29): Show |
32 | HG00280.hp1 HG00408.hp2 HG00733.hp2 others(29): Show |
intron_variant | MODIFIER | c.168+10239T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385462 | |||||||
chr14:50385477 | G | A | 1 | a0001c0001t0136g0298 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.168+10224C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385477 | |||||||
chr14:50385544 | A | G | 7 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(4): Show |
7 | HG01070.hp1 HG01071.hp1 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+10157T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385544 | |||||||
chr14:50385562 | T | C | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+10139A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385562 | |||||||
chr14:50385576 | C | T | 1 | a0001c0001t0019g0205 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.168+10125G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385576 | |||||||
chr14:50385580 | T | C | 1 | a0001c0001t0002g0173 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.168+10121A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385580 | |||||||
chr14:50385613 | G | C | 3 | a0001c0001t0002g0211 a0001c0001t0112g0172 a0002c0002t0029g0020 |
3 | HG02647.hp1 HG02970.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.168+10088C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385613 | |||||||
chr14:50385665 | G | A | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+10036C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385665 | |||||||
chr14:50385696 | C | T | 1 | a0001c0001t0025g0101 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.168+10005G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385696 | |||||||
chr14:50385712 | G | A | 1 | a0001c0001t0001g0065 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.168+9989C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385712 | |||||||
chr14:50385799 | G | A | 1 | a0002c0002t0139g0302 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.168+9902C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385799 | |||||||
chr14:50385803 | C | CA | 31 | a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0083 others(28): Show |
32 | HG00140.hp1 HG00733.hp1 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.168+9897dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385803 | |||||||
chr14:50385803 | C | CAA | 46 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0011g0270 others(43): Show |
47 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.168+9896_168+9897d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385803 | |||||||
chr14:50385803 | CA | C | 16 | a0001c0001t0002g0211 a0001c0001t0055g0239 a0001c0001t0068g0151 others(13): Show |
16 | HG00673.hp2 HG01192.hp2 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.168+9897delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385803 | |||||||
chr14:50385881 | T | G | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+9820A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385881 | |||||||
chr14:50385888 | T | C | 1 | a0001c0001t0025g0101 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.168+9813A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385888 | |||||||
chr14:50385916 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.168+9785A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50385916 | |||||||
chr14:50386050 | G | T | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+9651C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386050 | |||||||
chr14:50386101 | A | T | 2 | a0001c0001t0025g0102 a0002c0002t0045g0103 |
2 | HG01433.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.168+9600T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386101 | |||||||
chr14:50386129 | G | A | 23 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0208 others(20): Show |
24 | HG00140.hp1 HG01099.hp2 HG01257.hp1 others(21): Show |
intron_variant | MODIFIER | c.168+9572C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386129 | |||||||
chr14:50386403 | C | T | 202 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(199): Show |
204 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.168+9298G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386403 | |||||||
chr14:50386502 | G | A | 3 | a0001c0001t0002g0211 a0001c0001t0112g0172 a0002c0002t0029g0020 |
3 | HG02647.hp1 HG02970.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.168+9199C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386502 | |||||||
chr14:50386510 | T | C | 202 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(199): Show |
204 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.168+9191A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386510 | |||||||
chr14:50386878 | C | T | 1 | a0001c0001t0002g0173 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.168+8823G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50386878 | |||||||
chr14:50387026 | C | CAAAAAGA others(1): Show |
174 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(171): Show |
176 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(173): Show |
intron_variant | MODIFIER | c.168+8667_168+8674d others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387026 | |||||||
chr14:50387037 | A | AAAGAAAA others(1): Show |
23 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(20): Show |
23 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.168+8663_168+8664i others(10): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387037 | |||||||
chr14:50387206 | T | TA | 26 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(23): Show |
26 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.168+8494dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387206 | |||||||
chr14:50387206 | T | TAA | 175 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(172): Show |
177 | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.168+8493_168+8494d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387206 | |||||||
chr14:50387348 | C | A | 1 | a0001c0001t0106g0210 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.168+8353G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387348 | |||||||
chr14:50387523 | CA | C | 31 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(28): Show |
31 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(28): Show |
intron_variant | MODIFIER | c.168+8177delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387523 | |||||||
chr14:50387523 | CAA | C | 147 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(144): Show |
148 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(145): Show |
intron_variant | MODIFIER | c.168+8176_168+8177d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387523 | |||||||
chr14:50387761 | A | G | 1 | a0002c0002t0015g0290 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.168+7940T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387761 | |||||||
chr14:50387988 | C | T | 39 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(36): Show |
intron_variant | MODIFIER | c.168+7713G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50387988 | |||||||
chr14:50388022 | A | G | 237 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(234): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.168+7679T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388022 | |||||||
chr14:50388198 | A | G | 102 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0211 others(99): Show |
103 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(100): Show |
intron_variant | MODIFIER | c.168+7503T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388198 | |||||||
chr14:50388470 | G | A | 1 | a0001c0001t0002g0211 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.168+7231C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388470 | |||||||
chr14:50388523 | C | T | 1 | a0003c0003t0123g0225 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.168+7178G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388523 | |||||||
chr14:50388539 | A | G | 145 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(142): Show |
145 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.168+7162T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388539 | |||||||
chr14:50388562 | C | T | 146 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(143): Show |
146 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.168+7139G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388562 | |||||||
chr14:50388612 | T | A | 163 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(160): Show |
164 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(161): Show |
intron_variant | MODIFIER | c.168+7089A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388612 | |||||||
chr14:50388850 | T | A | 117 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0022 others(114): Show |
118 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(115): Show |
intron_variant | MODIFIER | c.168+6851A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388850 | |||||||
chr14:50388866 | G | A | 1 | a0001c0001t0013g0072 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.168+6835C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388866 | |||||||
chr14:50388873 | G | T | 1 | a0001c0001t0126g0268 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.168+6828C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388873 | |||||||
chr14:50388881 | T | G | 4 | a0001c0001t0110g0219 a0004c0004t0021g0217 a0004c0004t0021g0218 others(1): Show |
4 | HG01884.hp1 HG02559.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+6820A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388881 | |||||||
chr14:50388969 | G | A | 1 | a0001c0001t0006g0249 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.168+6732C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50388969 | |||||||
chr14:50389017 | T | G | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+6684A>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389017 | |||||||
chr14:50389097 | C | CA | 8 | a0001c0001t0001g0021 a0001c0001t0004g0148 a0001c0001t0004g0150 others(5): Show |
8 | HG00673.hp2 HG01106.hp2 HG01175.hp2 others(5): Show |
intron_variant | MODIFIER | c.168+6603dupT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389097 | |||||||
chr14:50389097 | CA | C | 17 | a0001c0001t0001g0086 a0001c0001t0006g0250 a0001c0001t0018g0007 others(14): Show |
18 | HG00323.hp1 HG00733.hp1 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.168+6603delT | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389097 | |||||||
chr14:50389097 | CAA | C | 74 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(71): Show |
74 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(71): Show |
intron_variant | MODIFIER | c.168+6602_168+6603d others(4): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389097 | |||||||
chr14:50389097 | CAAAAAAA | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show |
141 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(138): Show |
intron_variant | MODIFIER | c.168+6597_168+6603d others(9): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389097 | |||||||
chr14:50389097 | CAAAAAAA others(6): Show |
C | 3 | a0001c0001t0016g0112 a0001c0001t0016g0113 a0001c0001t0058g0111 |
3 | HG02109.hp1 HG02809.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.168+6591_168+6603d others(15): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389097 | |||||||
chr14:50389118 | A | G | 12 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0006g0237 others(9): Show |
13 | HG00140.hp1 HG01099.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.168+6583T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389118 | |||||||
chr14:50389319 | C | T | 12 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(9): Show |
12 | HG00438.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.168+6382G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389319 | |||||||
chr14:50389450 | A | G | 2 | a0001c0001t0011g0281 a0001c0001t0011g0293 |
2 | HG02451.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.168+6251T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389450 | |||||||
chr14:50389574 | T | C | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.168+6127A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389574 | |||||||
chr14:50389663 | T | C | 41 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(38): Show |
41 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(38): Show |
intron_variant | MODIFIER | c.168+6038A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389663 | |||||||
chr14:50389731 | C | G | 243 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(240): Show |
245 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
intron_variant | MODIFIER | c.168+5970G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389731 | |||||||
chr14:50389758 | C | A | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0002c0002t0024g0260 others(5): Show |
8 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.168+5943G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389758 | |||||||
chr14:50389923 | A | G | 145 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0022 others(142): Show |
147 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
intron_variant | MODIFIER | c.168+5778T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389923 | |||||||
chr14:50389939 | C | A | 1 | a0002c0002t0007g0084 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.168+5762G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389939 | |||||||
chr14:50389942 | G | C | 36 | a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0223 others(33): Show |
36 | HG00280.hp1 HG00408.hp2 HG00733.hp1 others(33): Show |
intron_variant | MODIFIER | c.168+5759C>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50389942 | |||||||
chr14:50390164 | C | T | 4 | a0001c0001t0001g0083 a0001c0001t0006g0237 a0002c0002t0007g0084 others(1): Show |
4 | HG00140.hp1 HG01099.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+5537G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390164 | |||||||
chr14:50390209 | A | G | 63 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0006g0237 others(60): Show |
64 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(61): Show |
intron_variant | MODIFIER | c.168+5492T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390209 | |||||||
chr14:50390471 | C | A | 87 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0022 others(84): Show |
88 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(85): Show |
intron_variant | MODIFIER | c.168+5230G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390471 | |||||||
chr14:50390572 | C | CTGTTTGT others(105): Show |
3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.168+5128_168+5129i others(114): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390572 | |||||||
chr14:50390572 | C | T | 239 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(236): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.168+5129G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390572 | |||||||
chr14:50390760 | A | C | 250 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(247): Show |
252 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
intron_variant | MODIFIER | c.168+4941T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390760 | |||||||
chr14:50390859 | T | C | 23 | a0001c0001t0002g0223 a0001c0001t0004g0252 a0001c0001t0004g0253 others(20): Show |
23 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(20): Show |
intron_variant | MODIFIER | c.168+4842A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390859 | |||||||
chr14:50390914 | A | G | 18 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0033g0096 others(15): Show |
19 | HG01099.hp2 HG01257.hp1 HG01258.hp2 others(16): Show |
intron_variant | MODIFIER | c.168+4787T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50390914 | |||||||
chr14:50391171 | C | T | 1 | a0001c0001t0115g0170 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.168+4530G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391171 | |||||||
chr14:50391255 | C | T | 237 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(234): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.168+4446G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391255 | |||||||
chr14:50391308 | C | T | 1 | a0001c0001t0136g0298 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.168+4393G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391308 | |||||||
chr14:50391485 | C | T | 127 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(124): Show |
128 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.168+4216G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391485 | |||||||
chr14:50391597 | G | A | 4 | a0001c0001t0025g0101 a0001c0001t0025g0102 a0002c0002t0045g0103 others(1): Show |
4 | HG01361.hp2 HG01433.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.168+4104C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391597 | |||||||
chr14:50391704 | A | G | 1 | a0002c0002t0015g0267 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.168+3997T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391704 | |||||||
chr14:50391894 | C | T | 57 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0011g0270 others(54): Show |
58 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.168+3807G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391894 | |||||||
chr14:50391923 | G | A | 39 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(36): Show |
intron_variant | MODIFIER | c.168+3778C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50391923 | |||||||
chr14:50392011 | A | C | 197 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(194): Show |
198 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.168+3690T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392011 | |||||||
chr14:50392033 | A | G | 1 | a0002c0002t0057g0110 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.168+3668T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392033 | |||||||
chr14:50392143 | C | T | 38 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(35): Show |
38 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(35): Show |
intron_variant | MODIFIER | c.168+3558G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392143 | |||||||
chr14:50392183 | C | T | 69 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(66): Show |
69 | HG00597.hp1 HG00639.hp1 HG00673.hp1 others(66): Show |
intron_variant | MODIFIER | c.168+3518G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392183 | |||||||
chr14:50392200 | C | T | 83 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0021 others(80): Show |
84 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(81): Show |
intron_variant | MODIFIER | c.168+3501G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392200 | |||||||
chr14:50392233 | G | T | 1 | a0002c0002t0135g0257 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.168+3468C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392233 | |||||||
chr14:50392452 | A | AAAT | 29 | a0001c0001t0002g0193 a0001c0001t0004g0120 a0001c0001t0004g0127 others(26): Show |
29 | HG00733.hp1 HG01099.hp1 HG01169.hp1 others(26): Show |
intron_variant | MODIFIER | c.168+3246_168+3248d others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392452 | |||||||
chr14:50392452 | A | AAATAAT | 94 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(91): Show |
94 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.168+3243_168+3248d others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392452 | |||||||
chr14:50392452 | A | AAATAATA others(2): Show |
6 | a0001c0001t0006g0243 a0001c0001t0107g0175 a0001c0001t0117g0213 others(3): Show |
6 | HG00741.hp1 HG01070.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.168+3240_168+3248d others(11): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392452 | |||||||
chr14:50392452 | AAAT | A | 37 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 others(34): Show |
37 | HG00597.hp2 HG01070.hp1 HG01071.hp1 others(34): Show |
intron_variant | MODIFIER | c.168+3246_168+3248d others(5): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392452 | |||||||
chr14:50392474 | A | G | 1 | a0001c0001t0004g0116 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.168+3227T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392474 | |||||||
chr14:50392489 | A | AATAATAA others(2): Show |
16 | a0001c0001t0011g0270 a0001c0001t0023g0274 a0001c0001t0043g0273 others(13): Show |
16 | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.168+3211_168+3212i others(11): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392489 | |||||||
chr14:50392489 | A | AATAATG | 12 | a0001c0001t0011g0281 a0001c0001t0011g0285 a0001c0001t0023g0288 others(9): Show |
12 | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(9): Show |
intron_variant | MODIFIER | c.168+3211_168+3212i others(8): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392489 | |||||||
chr14:50392489 | A | G | 2 | a0001c0001t0011g0293 a0001c0001t0023g0294 |
2 | HG00323.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.168+3212T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392489 | |||||||
chr14:50392614 | C | T | 2 | a0002c0002t0057g0110 a0002c0002t0077g0156 |
2 | HG00323.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.168+3087G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392614 | |||||||
chr14:50392621 | C | A | 3 | a0001c0001t0103g0004 a0001c0001t0104g0006 a0002c0002t0102g0005 |
3 | HG01261.hp2 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.168+3080G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392621 | |||||||
chr14:50392639 | C | A | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG00099.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.168+3062G>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50392639 | |||||||
chr14:50393406 | A | G | 1 | a0002c0002t0098g0091 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.168+2295T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50393406 | |||||||
chr14:50393674 | C | G | 3 | a0001c0001t0127g0264 a0002c0002t0039g0265 a0002c0002t0039g0266 |
3 | HG00280.hp2 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.168+2027G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50393674 | |||||||
chr14:50394239 | A | G | 38 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(35): Show |
38 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(35): Show |
intron_variant | MODIFIER | c.168+1462T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394239 | |||||||
chr14:50394282 | C | T | 7 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(4): Show |
7 | HG00597.hp1 HG00673.hp1 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.168+1419G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394282 | |||||||
chr14:50394431 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.168+1270G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394431 | |||||||
chr14:50394439 | C | T | 241 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(238): Show |
243 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
intron_variant | MODIFIER | c.168+1262G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394439 | |||||||
chr14:50394658 | T | A | 3 | a0002c0002t0024g0260 a0002c0002t0024g0261 a0002c0002t0024g0262 |
3 | HG00733.hp1 HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.168+1043A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394658 | |||||||
chr14:50394695 | C | T | 5 | a0001c0001t0095g0164 a0001c0001t0096g0165 a0001c0001t0097g0166 others(2): Show |
5 | HG01071.hp2 HG01192.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.168+1006G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394695 | |||||||
chr14:50394721 | T | C | 219 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(216): Show |
221 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(218): Show |
intron_variant | MODIFIER | c.168+980A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394721 | |||||||
chr14:50394792 | CT | C | 104 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(101): Show |
106 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(103): Show |
intron_variant | MODIFIER | c.168+908delA | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394792 | |||||||
chr14:50394806 | A | C | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0002c0002t0024g0260 others(5): Show |
8 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.168+895T>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394806 | |||||||
chr14:50394931 | A | G | 219 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(216): Show |
221 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(218): Show |
intron_variant | MODIFIER | c.168+770T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394931 | |||||||
chr14:50394958 | A | G | 220 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(217): Show |
222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.168+743T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50394958 | |||||||
chr14:50395000 | A | T | 1 | a0007c0007t0141g0303 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.168+701T>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395000 | |||||||
chr14:50395235 | A | G | 250 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(247): Show |
252 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
intron_variant | MODIFIER | c.168+466T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395235 | |||||||
chr14:50395275 | T | C | 220 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(217): Show |
222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.168+426A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395275 | |||||||
chr14:50395339 | T | A | 14 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 others(11): Show |
15 | HG01070.hp1 HG01071.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.168+362A>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395339 | |||||||
chr14:50395382 | G | A | 14 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 others(11): Show |
15 | HG01070.hp1 HG01071.hp1 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.168+319C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395382 | |||||||
chr14:50395628 | C | T | 2 | a0001c0001t0072g0153 a0001c0001t0073g0152 |
2 | HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.168+73G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395628 | |||||||
chr14:50395673 | GAAAAAAA others(15): Show |
G | 1 | a0002c0002t0026g0236 | 1 | HG01515.hp1 | splice_region_variant&intron_variant | LOW | c.168+6_168+27delTGA others(19): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395673 | |||||||
chr14:50395690 | G | A | 1 | a0001c0001t0121g0224 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.168+11C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | 50395690 | |||||||
chr14:50396433 | G | A | 1 | a0002c0002t0066g0233 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-461-104C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396433 | |||||||
chr14:50396526 | T | C | 21 | a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0006g0237 others(18): Show |
21 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(18): Show |
intron_variant | MODIFIER | c.-461-197A>G | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396526 | |||||||
chr14:50396642 | C | T | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0002c0002t0024g0260 others(5): Show |
8 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.-462+182G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396642 | |||||||
chr14:50396671 | C | T | 1 | a0002c0002t0067g0100 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-462+153G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396671 | |||||||
chr14:50396695 | C | T | 1 | a0003c0003t0017g0099 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-462+129G>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396695 | |||||||
chr14:50396704 | C | G | 93 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(90): Show |
95 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(92): Show |
intron_variant | MODIFIER | c.-462+120G>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396704 | |||||||
chr14:50396762 | A | G | 3 | a0001c0001t0103g0004 a0001c0001t0104g0006 a0002c0002t0102g0005 |
3 | HG01261.hp2 HG01496.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.-462+62T>C | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396762 | |||||||
chr14:50396792 | G | A | 41 | a0001c0001t0011g0270 a0001c0001t0011g0281 a0001c0001t0011g0285 others(38): Show |
41 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(38): Show |
intron_variant | MODIFIER | c.-462+32C>T | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396792 | |||||||
chr14:50396811 | G | T | 8 | a0001c0001t0044g0258 a0001c0001t0044g0259 a0002c0002t0024g0260 others(5): Show |
8 | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.-462+13C>A | CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 1/9 | chr14 | 50396811 |