geneid | 6792 |
---|---|
ensemblid | ENSG00000008086.13 |
hgncid | 11411 |
symbol | CDKL5 |
name | cyclin dependent kinase like 5 |
refseq_nuc | NM_001323289.2 |
refseq_prot | NP_001310218.1 |
ensembl_nuc | ENST00000623535.2 |
ensembl_prot | ENSP00000485244.1 |
mane_status | MANE Select |
chr | chrX |
start | 18425608 |
end | 18640196 |
strand | + |
ver | v1.2 |
region | chrX:18425608-18640196 |
region5000 | chrX:18420608-18645196 |
regionname0 | CDKL5_chrX_18425608_18640196 |
regionname5000 | CDKL5_chrX_18420608_18645196 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 960 | 189 | 49 | 30 | 81 | 7 | 20 | 58 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0002 | 0/0 | 960 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0003 | 0/0 | 861 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0004 | 0/0 | 158 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 2883 | 185 | 48 | 28 | 81 | 7 | 19 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
c0002 | 0/0 | 2883 | 3 | 1 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
c0003 | 0/0 | 2884 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
c0004 | 0/0 | 2882 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
c0005 | 0/0 | 2883 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
c0006 | 0/0 | 2883 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 11687 | 32 | 8 | 6 | 13 | 0 | 5 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0002 | 0/0 | 11684 | 32 | 6 | 5 | 16 | 1 | 4 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0003 | 1/0 | 11690 | 14 | 2 | 2 | 6 | 1 | 2 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0004 | 0/0 | 11687 | 12 | 0 | 2 | 10 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0005 | 0/0 | 11693 | 11 | 0 | 3 | 4 | 3 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0006 | 0/0 | 11693 | 5 | 4 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0007 | 0/0 | 11696 | 4 | 0 | 0 | 3 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0008 | 0/0 | 11681 | 4 | 2 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0009 | 0/0 | 11672 | 4 | 4 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0010 | 0/0 | 11688 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0011 | 0/0 | 11681 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0012 | 0/0 | 11685 | 3 | 1 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0013 | 0/0 | 11685 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0014 | 0/0 | 11687 | 3 | 3 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0015 | 0/0 | 11693 | 2 | 0 | 0 | 1 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0016 | 0/0 | 11688 | 2 | 0 | 0 | 1 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0017 | 0/0 | 11687 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0018 | 0/0 | 11669 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0019 | 0/0 | 11691 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0020 | 0/0 | 11687 | 2 | 0 | 0 | 0 | 2 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0021 | 0/0 | 11690 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0022 | 0/0 | 11687 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0023 | 0/0 | 11684 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0024 | 0/0 | 11693 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0025 | 0/0 | 11685 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0026 | 0/0 | 11680 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0027 | 0/0 | 11684 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0028 | 0/0 | 11681 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0029 | 0/0 | 11696 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0030 | 0/0 | 11690 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0031 | 0/0 | 11687 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0032 | 0/0 | 11688 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0033 | 0/0 | 11687 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0034 | 0/0 | 11691 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0035 | 0/0 | 11688 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0036 | 0/0 | 11690 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0037 | 0/0 | 11688 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0038 | 0/0 | 11669 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0039 | 0/0 | 11687 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0040 | 0/0 | 11689 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0041 | 0/0 | 11697 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0042 | 0/0 | 11691 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0043 | 0/0 | 11694 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0044 | 0/0 | 11691 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0045 | 0/0 | 11688 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0046 | 0/0 | 11687 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0047 | 0/0 | 11690 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0048 | 0/0 | 11684 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0049 | 0/0 | 11682 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0050 | 0/0 | 11690 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0051 | 0/0 | 11686 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0052 | 0/0 | 11693 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0053 | 0/0 | 11684 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0054 | 0/0 | 11696 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0055 | 0/0 | 11696 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0056 | 0/0 | 11687 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0057 | 0/0 | 11688 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0058 | 0/0 | 11690 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0059 | 0/0 | 11690 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0060 | 0/1 | 11687 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0061 | 0/0 | 11686 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0062 | 0/0 | 11691 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
t0063 | 0/0 | 11685 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0092 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0129 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 2883 | 185 | 48 | 28 | 81 | 7 | 19 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0002 | 0/0 | 2883 | 3 | 1 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0006 | 0/0 | 2883 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0002c0005 | 0/0 | 2883 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0003c0004 | 0/0 | 2882 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0004c0003 | 0/0 | 2884 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 14569 | 32 | 8 | 6 | 13 | 0 | 5 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0002 | 0/0 | 14566 | 30 | 6 | 4 | 16 | 1 | 3 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0003 | 1/0 | 14572 | 14 | 2 | 2 | 6 | 1 | 2 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0004 | 0/0 | 14569 | 12 | 0 | 2 | 10 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0005 | 0/0 | 14575 | 11 | 0 | 3 | 4 | 3 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0006 | 0/0 | 14575 | 5 | 4 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0007 | 0/0 | 14578 | 4 | 0 | 0 | 3 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0008 | 0/0 | 14563 | 4 | 2 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0009 | 0/0 | 14554 | 4 | 4 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0010 | 0/0 | 14570 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0011 | 0/0 | 14563 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0012 | 0/0 | 14567 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0013 | 0/0 | 14567 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0014 | 0/0 | 14569 | 3 | 3 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0015 | 0/0 | 14575 | 2 | 0 | 0 | 1 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0016 | 0/0 | 14570 | 2 | 0 | 0 | 1 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0017 | 0/0 | 14569 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0018 | 0/0 | 14551 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0019 | 0/0 | 14573 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0020 | 0/0 | 14569 | 2 | 0 | 0 | 0 | 2 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0021 | 0/0 | 14572 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0022 | 0/0 | 14569 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0023 | 0/0 | 14566 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0024 | 0/0 | 14575 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0025 | 0/0 | 14567 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0027 | 0/0 | 14566 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0028 | 0/0 | 14563 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0029 | 0/0 | 14578 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0030 | 0/0 | 14572 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0031 | 0/0 | 14569 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0033 | 0/0 | 14569 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0034 | 0/0 | 14573 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0035 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0037 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0038 | 0/0 | 14551 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0039 | 0/0 | 14569 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0040 | 0/0 | 14571 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0041 | 0/0 | 14579 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0042 | 0/0 | 14573 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0043 | 0/0 | 14576 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0044 | 0/0 | 14573 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0045 | 0/0 | 14570 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0046 | 0/0 | 14569 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0047 | 0/0 | 14572 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0048 | 0/0 | 14566 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0049 | 0/0 | 14564 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0050 | 0/0 | 14572 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0051 | 0/0 | 14568 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0052 | 0/0 | 14575 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0053 | 0/0 | 14566 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0054 | 0/0 | 14578 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0055 | 0/0 | 14578 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0056 | 0/0 | 14569 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0057 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0058 | 0/0 | 14572 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0059 | 0/0 | 14572 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0060 | 0/1 | 14569 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0061 | 0/0 | 14568 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0062 | 0/0 | 14573 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0001t0063 | 0/0 | 14567 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0002t0012 | 0/0 | 14567 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0002t0032 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0001c0006t0002 | 0/0 | 14566 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0002c0005t0002 | 0/0 | 14566 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0003c0004t0026 | 0/0 | 14561 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
a0004c0003t0036 | 0/0 | 14573 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | copy fasta | chrX | 18420608 | 18645196 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0002g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0003g0129 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0004g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0005g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0006g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0006g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0006g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0006g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0006g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0007g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0007g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0007g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0007g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0008g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0008g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0008g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0008g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0009g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0009g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0009g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0009g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0010g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0010g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0010g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0011g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0011g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0011g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0012g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0013g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0013g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0013g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0014g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0014g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0014g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0015g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0015g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0016g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0016g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0017g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0017g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0018g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0018g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0019g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0019g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0020g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0020g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0021g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0021g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0022g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0022g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0023g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0023g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0024g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0024g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0025g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0027g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0028g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0029g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0030g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0031g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0033g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0034g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0035g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0037g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0038g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0039g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0040g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0041g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0042g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0043g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0044g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0045g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0046g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0047g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0048g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0049g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0050g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0051g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0052g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0053g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0054g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0055g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0056g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0057g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0058g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0059g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0060g0092 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0061g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0062g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0001t0063g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0002t0012g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0002t0012g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0002t0032g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0001c0006t0002g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0002c0005t0002g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0003c0004t0026g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
a0004c0003t0036g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0020 | g0126 | EUR | GBR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00280 | hp1 | a0001 | c0001 | t0020 | g0121 | EUR | FIN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00544 | hp1 | a0001 | c0001 | t0016 | g0147 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00544 | hp2 | a0001 | c0001 | t0004 | g0176 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00597 | hp1 | a0001 | c0001 | t0013 | g0159 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00597 | hp2 | a0001 | c0001 | t0063 | g0006 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00609 | hp1 | a0001 | c0001 | t0002 | g0034 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00642 | hp1 | a0001 | c0001 | t0008 | g0120 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00673 | hp1 | a0001 | c0001 | t0033 | g0168 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG00738 | hp1 | a0001 | c0001 | t0058 | g0056 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01069 | hp1 | a0001 | c0001 | t0002 | g0038 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01070 | hp1 | a0001 | c0002 | t0012 | g0004 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01070 | hp2 | a0001 | c0001 | t0024 | g0095 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01071 | hp1 | a0001 | c0001 | t0002 | g0074 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01071 | hp2 | a0001 | c0001 | t0024 | g0096 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01074 | hp1 | a0001 | c0001 | t0053 | g0127 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01099 | hp1 | a0001 | c0001 | t0062 | g0051 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01106 | hp1 | a0001 | c0001 | t0049 | g0017 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01109 | hp1 | a0001 | c0001 | t0006 | g0149 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01167 | hp1 | a0002 | c0005 | t0002 | g0114 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01192 | hp1 | a0001 | c0001 | t0003 | g0061 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0140 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01255 | hp1 | a0001 | c0001 | t0028 | g0175 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0104 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01257 | hp2 | a0001 | c0001 | t0004 | g0191 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01258 | hp1 | a0001 | c0001 | t0004 | g0192 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01261 | hp1 | a0001 | c0001 | t0002 | g0107 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01358 | hp1 | a0001 | c0001 | t0002 | g0128 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01515 | hp1 | a0001 | c0001 | t0005 | g0075 | EUR | IBS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01517 | hp1 | a0001 | c0001 | t0005 | g0076 | EUR | IBS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01517 | hp2 | a0001 | c0001 | t0005 | g0011 | EUR | IBS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01884 | hp1 | a0001 | c0001 | t0021 | g0111 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01884 | hp2 | a0001 | c0001 | t0061 | g0005 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01928 | hp1 | a0001 | c0001 | t0005 | g0053 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01934 | hp1 | a0001 | c0001 | t0039 | g0063 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01943 | hp1 | a0001 | c0001 | t0005 | g0099 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01952 | hp1 | a0001 | c0001 | t0005 | g0108 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG01978 | hp2 | a0001 | c0001 | t0003 | g0125 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02055 | hp1 | a0001 | c0001 | t0008 | g0097 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02056 | hp1 | a0001 | c0001 | t0013 | g0027 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02074 | hp1 | a0001 | c0001 | t0004 | g0165 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02083 | hp1 | a0001 | c0001 | t0005 | g0106 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02129 | hp1 | a0001 | c0001 | t0002 | g0163 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02132 | hp1 | a0001 | c0001 | t0002 | g0146 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02135 | hp1 | a0001 | c0001 | t0043 | g0045 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0143 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02165 | hp1 | a0001 | c0001 | t0004 | g0183 | EAS | CDX | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02165 | hp2 | a0001 | c0001 | t0002 | g0141 | EAS | CDX | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02258 | hp1 | a0001 | c0001 | t0003 | g0026 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02293 | hp1 | a0001 | c0001 | t0008 | g0054 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02293 | hp2 | a0001 | c0002 | t0012 | g0002 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02451 | hp1 | a0001 | c0001 | t0022 | g0065 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02451 | hp2 | a0001 | c0001 | t0023 | g0040 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02523 | hp1 | a0001 | c0001 | t0004 | g0166 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02523 | hp2 | a0001 | c0001 | t0013 | g0013 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02572 | hp1 | a0001 | c0001 | t0057 | g0153 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02602 | hp1 | a0001 | c0001 | t0047 | g0110 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02622 | hp2 | a0001 | c0001 | t0014 | g0091 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02630 | hp1 | a0001 | c0001 | t0012 | g0001 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0044 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02717 | hp1 | a0001 | c0001 | t0023 | g0021 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02723 | hp1 | a0001 | c0001 | t0034 | g0015 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02735 | hp1 | a0001 | c0001 | t0048 | g0124 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02738 | hp1 | a0001 | c0001 | t0038 | g0131 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02895 | hp1 | a0001 | c0001 | t0051 | g0018 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02922 | hp1 | a0001 | c0001 | t0035 | g0148 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02965 | hp1 | a0001 | c0001 | t0009 | g0135 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02976 | hp1 | a0001 | c0001 | t0002 | g0102 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02976 | hp2 | a0001 | c0002 | t0032 | g0003 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03017 | hp1 | a0001 | c0001 | t0005 | g0073 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03041 | hp1 | a0001 | c0001 | t0006 | g0154 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03041 | hp2 | a0001 | c0001 | t0002 | g0049 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03098 | hp1 | a0001 | c0001 | t0009 | g0132 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03130 | hp1 | a0001 | c0001 | t0009 | g0133 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03139 | hp1 | a0001 | c0001 | t0055 | g0069 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03195 | hp1 | a0001 | c0001 | t0006 | g0151 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03195 | hp2 | a0001 | c0001 | t0002 | g0105 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03209 | hp1 | a0001 | c0001 | t0037 | g0155 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03225 | hp1 | a0001 | c0001 | t0056 | g0144 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03453 | hp1 | a0001 | c0001 | t0006 | g0152 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0089 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03490 | hp1 | a0001 | c0001 | t0003 | g0070 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03516 | hp1 | a0001 | c0001 | t0003 | g0100 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03516 | hp2 | a0001 | c0001 | t0014 | g0012 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03540 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03540 | hp2 | a0001 | c0001 | t0014 | g0103 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03654 | hp1 | a0001 | c0001 | t0016 | g0117 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0050 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03710 | hp1 | a0001 | c0001 | t0002 | g0010 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0115 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03927 | hp2 | a0001 | c0001 | t0015 | g0187 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03942 | hp1 | a0001 | c0001 | t0003 | g0066 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04115 | hp1 | a0001 | c0001 | t0007 | g0014 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04184 | hp1 | a0001 | c0001 | t0002 | g0169 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04184 | hp2 | a0001 | c0001 | t0031 | g0032 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04204 | hp1 | a0001 | c0001 | t0046 | g0047 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG04228 | hp1 | a0001 | c0006 | t0002 | g0007 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18522 | hp1 | a0001 | c0001 | t0059 | g0071 | AFR | YRI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18612 | hp1 | a0001 | c0001 | t0002 | g0156 | EAS | CHB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18906 | hp1 | a0001 | c0001 | t0009 | g0134 | AFR | YRI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18906 | hp2 | a0001 | c0001 | t0021 | g0112 | AFR | YRI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18940 | hp1 | a0001 | c0001 | t0019 | g0028 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18941 | hp2 | a0001 | c0001 | t0030 | g0174 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18943 | hp1 | a0001 | c0001 | t0002 | g0157 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18944 | hp1 | a0001 | c0001 | t0029 | g0181 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18945 | hp1 | a0001 | c0001 | t0002 | g0078 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18948 | hp1 | a0001 | c0001 | t0003 | g0083 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18952 | hp1 | a0001 | c0001 | t0019 | g0037 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18953 | hp1 | a0003 | c0004 | t0026 | g0079 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18957 | hp1 | a0001 | c0001 | t0004 | g0177 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18957 | hp2 | a0001 | c0001 | t0007 | g0062 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18959 | hp1 | a0001 | c0001 | t0027 | g0167 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18960 | hp1 | a0001 | c0001 | t0005 | g0068 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18961 | hp1 | a0001 | c0001 | t0002 | g0161 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18962 | hp1 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18965 | hp1 | a0001 | c0001 | t0025 | g0030 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18966 | hp1 | a0001 | c0001 | t0010 | g0173 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18970 | hp1 | a0001 | c0001 | t0002 | g0142 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18971 | hp1 | a0001 | c0001 | t0015 | g0188 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18974 | hp1 | a0004 | c0003 | t0036 | g0008 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18977 | hp1 | a0001 | c0001 | t0003 | g0055 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18982 | hp1 | a0001 | c0001 | t0002 | g0039 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18983 | hp1 | a0001 | c0001 | t0052 | g0086 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18984 | hp1 | a0001 | c0001 | t0002 | g0033 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18986 | hp1 | a0001 | c0001 | t0003 | g0020 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18988 | hp1 | a0001 | c0001 | t0010 | g0170 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18989 | hp1 | a0001 | c0001 | t0040 | g0116 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18990 | hp1 | a0001 | c0001 | t0003 | g0087 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18994 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19000 | hp1 | a0001 | c0001 | t0044 | g0016 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19002 | hp1 | a0001 | c0001 | t0003 | g0109 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19002 | hp2 | a0001 | c0001 | t0011 | g0179 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19004 | hp1 | a0001 | c0001 | t0011 | g0180 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19005 | hp1 | a0001 | c0001 | t0007 | g0019 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19006 | hp1 | a0001 | c0001 | t0045 | g0082 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19007 | hp1 | a0001 | c0001 | t0004 | g0182 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19012 | hp1 | a0001 | c0001 | t0005 | g0052 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19043 | hp1 | a0001 | c0001 | t0002 | g0139 | AFR | LWK | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19056 | hp1 | a0001 | c0001 | t0005 | g0098 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19058 | hp1 | a0001 | c0001 | t0017 | g0123 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19060 | hp1 | a0001 | c0001 | t0054 | g0024 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19062 | hp1 | a0001 | c0001 | t0017 | g0145 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19063 | hp1 | a0001 | c0001 | t0004 | g0171 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19066 | hp1 | a0001 | c0001 | t0010 | g0172 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19068 | hp1 | a0001 | c0001 | t0004 | g0184 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19072 | hp1 | a0001 | c0001 | t0007 | g0009 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19077 | hp1 | a0001 | c0001 | t0042 | g0178 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19077 | hp2 | a0001 | c0001 | t0011 | g0085 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19079 | hp1 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19081 | hp1 | a0001 | c0001 | t0002 | g0031 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19081 | hp2 | a0001 | c0001 | t0004 | g0185 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19082 | hp1 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19083 | hp1 | a0001 | c0001 | t0004 | g0186 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19086 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA19091 | hp1 | a0001 | c0001 | t0041 | g0138 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20129 | hp1 | a0001 | c0001 | t0002 | g0189 | AFR | ASW | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20129 | hp2 | a0001 | c0001 | t0022 | g0064 | AFR | ASW | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20752 | hp1 | a0001 | c0001 | t0003 | g0022 | EUR | TSI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20805 | hp1 | a0001 | c0001 | t0002 | g0023 | EUR | TSI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20905 | hp1 | a0001 | c0001 | t0002 | g0119 | SAS | GIH | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02109 | hp1 | a0001 | c0001 | t0006 | g0150 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02109 | hp2 | a0001 | c0001 | t0018 | g0041 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG02486 | hp1 | a0001 | c0001 | t0018 | g0042 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
HG03471 | hp1 | a0001 | c0001 | t0002 | g0190 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA18955 | hp1 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20300 | hp1 | a0001 | c0001 | t0050 | g0058 | AFR | USA | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
NA20300 | hp2 | a0001 | c0001 | t0008 | g0118 | AFR | USA | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0060 | g0092 | REF | REF | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0003 | g0129 | REF | REF | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:18581945
|
A | AC | 1 | a0004 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.459dupC | p.Phe154fs | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/18 | 710/14572 | 460/2883 | 154/960 | INFO_REALIGN_3_PRIME | chrX | 18581945 | |
chrX:18619962
|
A | C | 1 | a0002 | 1 | HG01167.hp1 | missense_variant | MODERATE | c.2372A>C | p.Gln791Pro | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/18 | 2622/14572 | 2372/2883 | 791/960 | chrX | 18619962 | ||
chrX:18628429
|
CG | C | 1 | a0003 | 1 | NA18953.hp1 | frameshift_variant | HIGH | c.2557delG | p.Ala853fs | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2807/14572 | 2557/2883 | 853/960 | INFO_REALIGN_3_PRIME | chrX | 18628429 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:18604691
|
C | T | 1 | a0001c0006 | 1 | HG04228.hp1 | synonymous_variant | LOW | c.1767C>T | p.His589His | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/18 | 2017/14572 | 1767/2883 | 589/960 | chrX | 18604691 | ||
chrX:18604721
|
C | G | 1 | a0001c0002 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp2 |
synonymous_variant | LOW | c.1797C>G | p.Thr599Thr | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/18 | 2047/14572 | 1797/2883 | 599/960 | chrX | 18604721 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:18425666
|
T | TC | 1 | a0001c0001t0025 | 1 | NA18965.hp1 | 5_prime_UTR_variant | MODIFIER | c.-188dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/18 | 81426 | INFO_REALIGN_3_PRIME | chrX | 18425666 | ||||
chrX:18425680
|
T | TG | 1 | a0001c0001t0063 | 1 | HG00597.hp2 | 5_prime_UTR_variant | MODIFIER | c.-173dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/18 | 81411 | INFO_REALIGN_3_PRIME | chrX | 18425680 | ||||
chrX:18628769
|
A | AG | 1 | a0001c0001t0062 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*18dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 19 | INFO_REALIGN_3_PRIME | chrX | 18628769 | ||||
chrX:18628828
|
TG | T | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*75delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 75 | INFO_REALIGN_3_PRIME | chrX | 18628828 | ||||
chrX:18628869
|
CT | C | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*115delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 115 | INFO_REALIGN_3_PRIME | chrX | 18628869 | ||||
chrX:18629103
|
G | GT | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*347dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 348 | INFO_REALIGN_3_PRIME | chrX | 18629103 | ||||
chrX:18629132
|
T | TC | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*376dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 377 | INFO_REALIGN_3_PRIME | chrX | 18629132 | ||||
chrX:18629133
|
C | T | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*376C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 376 | chrX | 18629133 | |||||
chrX:18629176
|
G | C | 19 | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(16): Show | 36 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*419G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 419 | chrX | 18629176 | |||||
chrX:18629543
|
AT | A | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*789delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 789 | INFO_REALIGN_3_PRIME | chrX | 18629543 | ||||
chrX:18629635
|
G | T | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*878G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 878 | chrX | 18629635 | |||||
chrX:18629698
|
CA | C | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*944delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 944 | INFO_REALIGN_3_PRIME | chrX | 18629698 | ||||
chrX:18629793
|
A | T | 1 | a0001c0001t0060 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1036A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1036 | chrX | 18629793 | |||||
chrX:18629889
|
GA | G | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1133delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1133 | chrX | 18629889 | |||||
chrX:18630010
|
A | C | 1 | a0001c0001t0037 | 1 | HG03209.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1253A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1253 | chrX | 18630010 | |||||
chrX:18630053
|
C | CT | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1302dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1303 | INFO_REALIGN_3_PRIME | chrX | 18630053 | ||||
chrX:18630088
|
A | AC | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1331_*1332insC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1332 | chrX | 18630088 | |||||
chrX:18630106
|
T | TC | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1351dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1352 | INFO_REALIGN_3_PRIME | chrX | 18630106 | ||||
chrX:18630178
|
G | GC | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1422dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1423 | INFO_REALIGN_3_PRIME | chrX | 18630178 | ||||
chrX:18630269
|
A | G | 2 | a0001c0001t0034a0001c0001t0035 | 2 | HG02723.hp1 HG02922.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1512A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1512 | chrX | 18630269 | |||||
chrX:18630323
|
A | AG | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1569dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1570 | INFO_REALIGN_3_PRIME | chrX | 18630323 | ||||
chrX:18630398
|
T | TA | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1644dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1645 | INFO_REALIGN_3_PRIME | chrX | 18630398 | ||||
chrX:18630577
|
G | A | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1820G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1820 | chrX | 18630577 | |||||
chrX:18630716
|
A | AC | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1960dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 1961 | INFO_REALIGN_3_PRIME | chrX | 18630716 | ||||
chrX:18630756
|
CA | C | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2001delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2001 | INFO_REALIGN_3_PRIME | chrX | 18630756 | ||||
chrX:18630777
|
A | G | 1 | a0001c0001t0059 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2020A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2020 | chrX | 18630777 | |||||
chrX:18630909
|
C | T | 1 | a0001c0001t0058 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2152C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2152 | chrX | 18630909 | |||||
chrX:18630965
|
TC | T | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2214delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2214 | INFO_REALIGN_3_PRIME | chrX | 18630965 | ||||
chrX:18631083
|
AG | A | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2330delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2330 | INFO_REALIGN_3_PRIME | chrX | 18631083 | ||||
chrX:18631094
|
TC | T | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2340delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2340 | INFO_REALIGN_3_PRIME | chrX | 18631094 | ||||
chrX:18631143
|
C | T | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2386C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2386 | chrX | 18631143 | |||||
chrX:18631194
|
A | G | 1 | a0001c0001t0024 | 2 | HG01070.hp2 HG01071.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2437A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2437 | chrX | 18631194 | |||||
chrX:18631249
|
TC | T | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2495delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2495 | INFO_REALIGN_3_PRIME | chrX | 18631249 | ||||
chrX:18631424
|
AG | A | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2672delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2672 | INFO_REALIGN_3_PRIME | chrX | 18631424 | ||||
chrX:18631466
|
CT | C | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2711delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2711 | INFO_REALIGN_3_PRIME | chrX | 18631466 | ||||
chrX:18631571
|
CT | C | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2818delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2818 | INFO_REALIGN_3_PRIME | chrX | 18631571 | ||||
chrX:18631694
|
GA | G | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2941delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2941 | INFO_REALIGN_3_PRIME | chrX | 18631694 | ||||
chrX:18631715
|
G | T | 1 | a0001c0001t0033 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2958G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2958 | chrX | 18631715 | |||||
chrX:18631746
|
G | A | 1 | a0001c0001t0024 | 2 | HG01070.hp2 HG01071.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2989G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 2989 | chrX | 18631746 | |||||
chrX:18631762
|
G | GT | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3007dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3008 | INFO_REALIGN_3_PRIME | chrX | 18631762 | ||||
chrX:18631879
|
C | CA | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3124dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3125 | INFO_REALIGN_3_PRIME | chrX | 18631879 | ||||
chrX:18631936
|
T | TG | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3183dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3184 | INFO_REALIGN_3_PRIME | chrX | 18631936 | ||||
chrX:18631959
|
T | TG | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3209dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3210 | INFO_REALIGN_3_PRIME | chrX | 18631959 | ||||
chrX:18632106
|
C | T | 5 | a0001c0001t0012a0001c0001t0034a0001c0001t0035others(2): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*3349C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3349 | chrX | 18632106 | |||||
chrX:18632168
|
C | CA | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3412dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3413 | INFO_REALIGN_3_PRIME | chrX | 18632168 | ||||
chrX:18632227
|
G | T | 25 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(22): Show | 52 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*3470G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3470 | chrX | 18632227 | |||||
chrX:18632301
|
AC | A | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3546delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3546 | INFO_REALIGN_3_PRIME | chrX | 18632301 | ||||
chrX:18632371
|
G | A | 1 | a0001c0001t0038 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3614G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3614 | chrX | 18632371 | |||||
chrX:18632437
|
CA | C | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3683delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3683 | INFO_REALIGN_3_PRIME | chrX | 18632437 | ||||
chrX:18632515
|
T | C | 1 | a0001c0001t0039 | 1 | HG01934.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3758T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 3758 | chrX | 18632515 | |||||
chrX:18632800
|
C | G | 1 | a0001c0001t0054 | 1 | NA19060.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4043C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4043 | chrX | 18632800 | |||||
chrX:18632856
|
C | CCT | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4099_*4100insCT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4100 | chrX | 18632856 | |||||
chrX:18632891
|
A | G | 2 | a0001c0001t0020a0001c0001t0053 | 3 | HG00140.hp1 HG00280.hp1 HG01074.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4134A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4134 | chrX | 18632891 | |||||
chrX:18633278
|
GC | G | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4523delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4523 | INFO_REALIGN_3_PRIME | chrX | 18633278 | ||||
chrX:18633329
|
A | G | 1 | a0001c0001t0052 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4572A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4572 | chrX | 18633329 | |||||
chrX:18633332
|
G | GT | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4578dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4579 | INFO_REALIGN_3_PRIME | chrX | 18633332 | ||||
chrX:18633392
|
AG | A | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4636delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4636 | chrX | 18633392 | |||||
chrX:18633572
|
TTC | T | 1 | a0001c0001t0019 | 2 | NA18940.hp1 NA18952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4817_*4818delCT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4817 | INFO_REALIGN_3_PRIME | chrX | 18633572 | ||||
chrX:18633744
|
C | T | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4987C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 4987 | chrX | 18633744 | |||||
chrX:18633967
|
G | GA | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5217dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 5218 | INFO_REALIGN_3_PRIME | chrX | 18633967 | ||||
chrX:18634060
|
A | G | 1 | a0001c0001t0028 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5303A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 5303 | chrX | 18634060 | |||||
chrX:18634316
|
AG | A | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5563delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 5563 | INFO_REALIGN_3_PRIME | chrX | 18634316 | ||||
chrX:18634425
|
G | GT | 1 | a0001c0001t0057 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5674dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 5675 | INFO_REALIGN_3_PRIME | chrX | 18634425 | ||||
chrX:18634515
|
C | T | 1 | a0001c0001t0056 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5758C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 5758 | chrX | 18634515 | |||||
chrX:18634799
|
AT | A | 1 | a0003c0004t0026 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6046delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 6046 | INFO_REALIGN_3_PRIME | chrX | 18634799 | ||||
chrX:18634830
|
C | T | 1 | a0001c0001t0051 | 1 | HG02895.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6073C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 6073 | chrX | 18634830 | |||||
chrX:18635183
|
C | CATGT | 1 | a0001c0001t0040 | 1 | NA18989.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6427_*6430dupATGT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 6431 | INFO_REALIGN_3_PRIME | chrX | 18635183 | ||||
chrX:18635294
|
C | T | 1 | a0001c0001t0056 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6537C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 6537 | chrX | 18635294 | |||||
chrX:18635399
|
G | A | 1 | a0001c0001t0033 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6642G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 6642 | chrX | 18635399 | |||||
chrX:18636036
|
A | G | 3 | a0001c0001t0012a0001c0002t0012a0001c0002t0032 | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*7279A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7279 | chrX | 18636036 | |||||
chrX:18636311
|
CAGG | C | 1 | a0001c0001t0050 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7555_*7557delAGG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7555 | chrX | 18636311 | |||||
chrX:18636336
|
T | TTTA | 8 | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(5): Show | 25 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*7624_*7626dupATT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7627 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
T | TTTATTA | 6 | a0001c0001t0007a0001c0001t0029a0001c0001t0041others(3): Show | 9 | HG03139.hp1 HG04115.hp1 NA18944.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*7621_*7626dupATTA others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7627 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
TTTA | T | 22 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(19): Show | 72 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(69): Show |
3_prime_UTR_variant | MODIFIER | c.*7624_*7626delATT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7624 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
TTTATTA | T | 13 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(10): Show | 46 | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*7621_*7626delATTA others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7621 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
TTTATTAT others(2): Show |
T | 4 | a0001c0001t0008a0001c0001t0011a0001c0001t0028others(1): Show | 9 | HG00642.hp1 HG01106.hp1 HG01255.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*7618_*7626delATTA others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7618 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
TTTATTAT others(11): Show |
T | 1 | a0001c0001t0009 | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*7609_*7626delATTA others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7609 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636336
|
TTTATTAT others(14): Show |
T | 2 | a0001c0001t0018a0001c0001t0038 | 3 | HG02109.hp2 HG02486.hp1 HG02738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7606_*7626delATTA others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7606 | INFO_REALIGN_3_PRIME | chrX | 18636336 | ||||
chrX:18636349
|
T | C | 1 | a0001c0001t0033 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7592T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7592 | chrX | 18636349 | |||||
chrX:18636399
|
C | T | 2 | a0001c0001t0034a0001c0001t0035 | 2 | HG02723.hp1 HG02922.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7642C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7642 | chrX | 18636399 | |||||
chrX:18636515
|
G | A | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7758G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 7758 | chrX | 18636515 | |||||
chrX:18636947
|
TG | T | 1 | a0001c0001t0045 | 1 | NA19006.hp1 | 3_prime_UTR_variant | MODIFIER | c.*8194delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8194 | INFO_REALIGN_3_PRIME | chrX | 18636947 | ||||
chrX:18637114
|
T | G | 28 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(25): Show | 55 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*8357T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8357 | chrX | 18637114 | |||||
chrX:18637344
|
G | A | 1 | a0001c0001t0037 | 1 | HG03209.hp1 | 3_prime_UTR_variant | MODIFIER | c.*8587G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8587 | chrX | 18637344 | |||||
chrX:18637385
|
C | CA | 15 | a0001c0001t0010a0001c0001t0012a0001c0001t0013others(12): Show | 21 | HG00544.hp1 HG00597.hp1 HG01070.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*8647dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8648 | INFO_REALIGN_3_PRIME | chrX | 18637385 | ||||
chrX:18637385
|
CA | C | 3 | a0001c0001t0051a0003c0004t0026a0004c0003t0036 | 3 | HG02895.hp1 NA18953.hp1 NA18974.hp1 |
3_prime_UTR_variant | MODIFIER | c.*8647delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8647 | INFO_REALIGN_3_PRIME | chrX | 18637385 | ||||
chrX:18637423
|
A | ATGG | 1 | a0001c0001t0047 | 1 | HG02602.hp1 | 3_prime_UTR_variant | MODIFIER | c.*8672_*8674dupGTG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 8675 | INFO_REALIGN_3_PRIME | chrX | 18637423 | ||||
chrX:18637831
|
T | C | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*9074T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9074 | chrX | 18637831 | |||||
chrX:18637872
|
T | A | 1 | a0001c0001t0031 | 1 | HG04184.hp2 | 3_prime_UTR_variant | MODIFIER | c.*9115T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9115 | chrX | 18637872 | |||||
chrX:18637898
|
G | A | 1 | a0001c0001t0048 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9141G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9141 | chrX | 18637898 | |||||
chrX:18638097
|
GCATC | G | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*9344_*9347delCCAT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9344 | INFO_REALIGN_3_PRIME | chrX | 18638097 | ||||
chrX:18638098
|
C | CA | 1 | a0001c0001t0045 | 1 | NA19006.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9342dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9343 | INFO_REALIGN_3_PRIME | chrX | 18638098 | ||||
chrX:18638120
|
AG | A | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9367delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9367 | INFO_REALIGN_3_PRIME | chrX | 18638120 | ||||
chrX:18638342
|
TA | T | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9588delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9588 | INFO_REALIGN_3_PRIME | chrX | 18638342 | ||||
chrX:18638342
|
TAAACA | T | 1 | a0001c0001t0042 | 1 | NA19077.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9588_*9592delACAA others(1): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9588 | INFO_REALIGN_3_PRIME | chrX | 18638342 | ||||
chrX:18638379
|
TA | T | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9627delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9627 | INFO_REALIGN_3_PRIME | chrX | 18638379 | ||||
chrX:18638457
|
TC | T | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9705delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9705 | INFO_REALIGN_3_PRIME | chrX | 18638457 | ||||
chrX:18638752
|
A | AC | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*9998dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 9999 | INFO_REALIGN_3_PRIME | chrX | 18638752 | ||||
chrX:18638764
|
CA | C | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*10011delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 10011 | INFO_REALIGN_3_PRIME | chrX | 18638764 | ||||
chrX:18638785
|
A | AG | 1 | a0004c0003t0036 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*10029dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 10030 | INFO_REALIGN_3_PRIME | chrX | 18638785 | ||||
chrX:18639162
|
C | T | 1 | a0001c0001t0022 | 2 | HG02451.hp1 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*10405C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 10405 | chrX | 18639162 | |||||
chrX:18639292
|
A | G | 1 | a0001c0001t0048 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*10535A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 10535 | chrX | 18639292 | |||||
chrX:18639867
|
A | G | 1 | a0001c0001t0017 | 2 | NA19058.hp1 NA19062.hp1 |
3_prime_UTR_variant | MODIFIER | c.*11110A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 11110 | chrX | 18639867 | |||||
chrX:18639940
|
G | A | 1 | a0001c0001t0061 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*11183G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 11183 | chrX | 18639940 | |||||
chrX:18639973
|
G | A | 1 | a0001c0001t0046 | 1 | HG04204.hp1 | 3_prime_UTR_variant | MODIFIER | c.*11216G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 11216 | chrX | 18639973 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:18425831
|
T | C | 5 | a0001c0001t0012g0001a0001c0001t0061g0005a0001c0002t0012g0002others(2): Show | 5 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.-163+136T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18425831 | ||||||
chrX:18425992
|
G | GC | 1 | a0001c0001t0063g0006 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-163+301dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18425992 | |||||
chrX:18426001
|
G | C | 1 | a0001c0006t0002g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-163+306G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426001 | ||||||
chrX:18426016
|
C | CG | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+324dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18426016 | |||||
chrX:18426118
|
G | GC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+427dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18426118 | |||||
chrX:18426182
|
C | T | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.-163+487C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426182 | ||||||
chrX:18426208
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+513C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426208 | ||||||
chrX:18426301
|
A | G | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-163+606A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426301 | ||||||
chrX:18426647
|
A | T | 28 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.-163+952A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426647 | ||||||
chrX:18426699
|
C | T | 2 | a0001c0001t0015g0188a0001c0001t0063g0006 | 2 | HG00597.hp2 NA18971.hp1 |
intron_variant | MODIFIER | c.-163+1004C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426699 | ||||||
chrX:18426788
|
A | G | 9 | a0001c0001t0001g0162a0001c0001t0001g0164a0001c0001t0002g0156others(6): Show | 9 | HG00597.hp1 HG02129.hp1 NA18612.hp1 others(6): Show |
intron_variant | MODIFIER | c.-163+1093A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426788 | ||||||
chrX:18427091
|
TA | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+1402delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18427091 | |||||
chrX:18427154
|
CT | C | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+1464delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18427154 | |||||
chrX:18427300
|
A | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+1605A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427300 | ||||||
chrX:18427330
|
G | T | 7 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(4): Show | 7 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.-163+1635G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427330 | ||||||
chrX:18427374
|
A | AAGCTGTA others(1): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+1683_-163+168 others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18427374 | |||||
chrX:18427580
|
G | A | 2 | a0001c0001t0002g0010a0001c0001t0005g0011 | 2 | HG01517.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.-163+1885G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427580 | ||||||
chrX:18427645
|
C | A | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+1950C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427645 | ||||||
chrX:18427728
|
AT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+2036delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18427728 | |||||
chrX:18427771
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+2076C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427771 | ||||||
chrX:18427793
|
T | A | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-163+2098T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427793 | ||||||
chrX:18427806
|
GT | G | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+2114delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18427806 | |||||
chrX:18427867
|
T | C | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-163+2172T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427867 | ||||||
chrX:18427969
|
A | C | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-163+2274A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427969 | ||||||
chrX:18428085
|
CG | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+2393delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18428085 | |||||
chrX:18428417
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+2723dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18428417 | |||||
chrX:18428420
|
C | T | 1 | a0001c0001t0015g0187 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-163+2725C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18428420 | ||||||
chrX:18428723
|
G | GT | 6 | a0001c0001t0001g0143a0001c0001t0002g0146a0001c0001t0004g0186others(3): Show | 6 | HG01884.hp2 HG02132.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+3044dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18428723 | |||||
chrX:18428953
|
C | T | 2 | a0001c0001t0002g0141a0001c0001t0002g0142 | 2 | HG02165.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.-163+3258C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18428953 | ||||||
chrX:18428998
|
A | AT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+3312dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18428998 | |||||
chrX:18429089
|
C | G | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-163+3394C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18429089 | ||||||
chrX:18429289
|
TG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+3598delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18429289 | |||||
chrX:18429829
|
G | C | 1 | a0001c0001t0004g0165 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-163+4134G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18429829 | ||||||
chrX:18430253
|
C | CT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+4562dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430253 | |||||
chrX:18430266
|
T | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+4571T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430266 | ||||||
chrX:18430296
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+4601T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430296 | ||||||
chrX:18430306
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+4613dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430306 | |||||
chrX:18430375
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-163+4680G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430375 | ||||||
chrX:18430536
|
TG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+4844delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430536 | |||||
chrX:18430546
|
C | T | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-163+4851C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430546 | ||||||
chrX:18430588
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+4894dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430588 | |||||
chrX:18430610
|
A | AT | 2 | a0001c0001t0041g0138a0004c0003t0036g0008 | 2 | NA18974.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.-163+4922dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430610 | |||||
chrX:18430685
|
T | TC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+4996dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430685 | |||||
chrX:18430744
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-163+5049G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430744 | ||||||
chrX:18430779
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+5084A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430779 | ||||||
chrX:18430831
|
TA | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5140delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430831 | |||||
chrX:18430857
|
AT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+5172delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430857 | |||||
chrX:18430887
|
T | TC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5197dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430887 | |||||
chrX:18430901
|
GC | G | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5209delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430901 | |||||
chrX:18430948
|
G | GC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5259dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18430948 | |||||
chrX:18430955
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+5260A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430955 | ||||||
chrX:18431007
|
G | A | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-163+5312G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431007 | ||||||
chrX:18431028
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5340dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431028 | |||||
chrX:18431066
|
GT | G | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5373delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431066 | |||||
chrX:18431082
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-163+5387C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431082 | ||||||
chrX:18431161
|
C | T | 2 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | HG01256.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.-163+5466C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431161 | ||||||
chrX:18431259
|
T | G | 1 | a0001c0001t0049g0017 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-163+5564T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431259 | ||||||
chrX:18431285
|
A | C | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+5590A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431285 | ||||||
chrX:18431388
|
G | A | 157 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(154): Show | 157 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(154): Show |
intron_variant | MODIFIER | c.-163+5693G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431388 | ||||||
chrX:18431419
|
TTTTC | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+5728_-163+573 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431419 | |||||
chrX:18431423
|
C | CT | 3 | a0001c0001t0001g0113a0001c0001t0002g0146a0001c0001t0041g0138 | 3 | HG02132.hp1 NA18747.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.-163+5744dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431423 | |||||
chrX:18431423
|
C | CTTTTCTT others(9): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+5732_-163+573 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431423 | |||||
chrX:18431423
|
CT | C | 4 | a0001c0001t0001g0140a0001c0001t0003g0020a0001c0001t0007g0019others(1): Show | 4 | HG01243.hp1 HG02895.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+5744delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431423 | |||||
chrX:18431428
|
T | C | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-163+5733T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431428 | ||||||
chrX:18431452
|
C | T | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-163+5757C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431452 | ||||||
chrX:18431453
|
G | T | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-163+5758G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431453 | ||||||
chrX:18431458
|
G | GT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5765dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431458 | |||||
chrX:18431588
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+5904dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431588 | |||||
chrX:18431627
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+5932A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431627 | ||||||
chrX:18431689
|
A | T | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-163+5994A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431689 | ||||||
chrX:18431709
|
G | A | 1 | a0001c0001t0023g0021 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-163+6014G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431709 | ||||||
chrX:18431737
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+6042G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431737 | ||||||
chrX:18431856
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+6165dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431856 | |||||
chrX:18431869
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+6175dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431869 | |||||
chrX:18431919
|
C | CT | 157 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(154): Show | 157 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(154): Show |
intron_variant | MODIFIER | c.-163+6231dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18431919 | |||||
chrX:18431934
|
G | A | 7 | a0001c0001t0001g0162a0001c0001t0002g0156a0001c0001t0002g0157others(4): Show | 7 | HG00597.hp1 NA18612.hp1 NA18943.hp1 others(4): Show |
intron_variant | MODIFIER | c.-163+6239G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431934 | ||||||
chrX:18432075
|
A | ATTTC | 1 | a0002c0005t0002g0114 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.-163+6404_-163+640 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432075 | |||||
chrX:18432075
|
ATTTC | A | 13 | a0001c0001t0003g0109a0001c0001t0004g0182a0001c0001t0004g0183others(10): Show | 13 | HG00597.hp2 HG01884.hp2 HG02165.hp1 others(10): Show |
intron_variant | MODIFIER | c.-163+6404_-163+640 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432075 | |||||
chrX:18432099
|
C | CT | 2 | a0001c0001t0005g0108a0001c0001t0007g0009 | 2 | HG01952.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-163+6421dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432099 | |||||
chrX:18432099
|
C | CTT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+6420_-163+642 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432099 | |||||
chrX:18432099
|
CT | C | 3 | a0001c0001t0002g0023a0001c0001t0037g0155a0001c0001t0054g0024 | 3 | HG03209.hp1 NA19060.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.-163+6421delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432099 | |||||
chrX:18432099
|
CTT | C | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+6420_-163+642 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432099 | |||||
chrX:18432103
|
T | C | 1 | a0001c0001t0003g0022 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-163+6408T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18432103 | ||||||
chrX:18432488
|
C | T | 1 | a0001c0001t0002g0107 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-163+6793C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18432488 | ||||||
chrX:18432603
|
C | CT | 6 | a0001c0001t0004g0176a0001c0001t0004g0177a0001c0001t0012g0001others(3): Show | 6 | HG00544.hp2 HG01070.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.-163+6927dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432603 | |||||
chrX:18432603
|
CT | C | 5 | a0001c0001t0001g0025a0001c0001t0002g0010a0001c0001t0004g0166others(2): Show | 5 | HG01884.hp2 HG02015.hp1 HG02523.hp1 others(2): Show |
intron_variant | MODIFIER | c.-163+6927delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432603 | |||||
chrX:18432702
|
G | GC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+7008dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432702 | |||||
chrX:18432739
|
TG | T | 2 | a0001c0001t0002g0156a0001c0001t0002g0157 | 2 | NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.-163+7047delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432739 | |||||
chrX:18432773
|
A | AT | 2 | a0001c0001t0007g0009a0001c0001t0041g0138 | 2 | NA19072.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.-163+7085dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18432773 | |||||
chrX:18432953
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+7258G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18432953 | ||||||
chrX:18432970
|
G | A | 1 | a0001c0001t0003g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-163+7275G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18432970 | ||||||
chrX:18433228
|
C | CA | 19 | a0001c0001t0001g0029a0001c0001t0002g0023a0001c0001t0002g0031others(16): Show | 19 | HG00609.hp1 HG01069.hp1 HG02056.hp1 others(16): Show |
intron_variant | MODIFIER | c.-163+7545dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18433228 | |||||
chrX:18433228
|
CA | C | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-163+7545delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18433228 | |||||
chrX:18433324
|
A | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+7629A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433324 | ||||||
chrX:18433327
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+7632C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433327 | ||||||
chrX:18433388
|
T | TA | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+7698dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18433388 | |||||
chrX:18433447
|
G | T | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-163+7752G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433447 | ||||||
chrX:18433546
|
G | T | 1 | a0001c0001t0049g0017 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-163+7851G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433546 | ||||||
chrX:18433553
|
T | TA | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+7869dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18433553 | |||||
chrX:18433553
|
TA | T | 1 | a0001c0001t0002g0163 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-163+7869delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18433553 | |||||
chrX:18433564
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+7869A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433564 | ||||||
chrX:18434214
|
A | AT | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+8526dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18434214 | |||||
chrX:18434214
|
A | G | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-163+8519A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434214 | ||||||
chrX:18434419
|
A | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+8724A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434419 | ||||||
chrX:18434445
|
T | C | 1 | a0001c0001t0007g0019 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-163+8750T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434445 | ||||||
chrX:18434764
|
C | CA | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+9075dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18434764 | |||||
chrX:18434799
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+9104G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434799 | ||||||
chrX:18434819
|
T | C | 1 | a0001c0001t0002g0146 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-163+9124T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434819 | ||||||
chrX:18434933
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+9238G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434933 | ||||||
chrX:18434942
|
A | C | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-163+9247A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434942 | ||||||
chrX:18435071
|
G | GAACAACT others(6): Show |
1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+9377_-163+938 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18435071 | |||||
chrX:18435137
|
G | C | 27 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.-163+9442G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435137 | ||||||
chrX:18435232
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+9537T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435232 | ||||||
chrX:18435625
|
G | A | 1 | a0001c0001t0001g0115 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-163+9930G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435625 | ||||||
chrX:18435734
|
T | G | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-163+10039T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435734 | ||||||
chrX:18435742
|
T | C | 1 | a0001c0001t0027g0167 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-163+10047T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435742 | ||||||
chrX:18435802
|
A | G | 2 | a0001c0001t0038g0131a0001c0006t0002g0007 | 2 | HG02738.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.-163+10107A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435802 | ||||||
chrX:18435976
|
T | C | 2 | a0001c0001t0018g0041a0001c0001t0018g0042 | 2 | HG02109.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.-163+10281T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18435976 | ||||||
chrX:18436550
|
A | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+10855A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18436550 | ||||||
chrX:18436897
|
C | CA | 22 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0046others(19): Show | 22 | HG00597.hp1 HG00621.hp1 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.-163+11227dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18436897 | |||||
chrX:18436897
|
C | CAA | 2 | a0001c0001t0037g0155a0001c0002t0012g0004 | 2 | HG01070.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-163+11226_-163+11 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18436897 | |||||
chrX:18436897
|
C | CAAA | 3 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0032g0003 | 3 | HG02293.hp2 HG02630.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.-163+11225_-163+11 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18436897 | |||||
chrX:18436897
|
CA | C | 12 | a0001c0001t0001g0101a0001c0001t0001g0113a0001c0001t0002g0102others(9): Show | 12 | HG01884.hp2 HG02717.hp1 HG02723.hp1 others(9): Show |
intron_variant | MODIFIER | c.-163+11227delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18436897 | |||||
chrX:18436941
|
A | G | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+11246A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18436941 | ||||||
chrX:18437009
|
T | C | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-163+11314T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18437009 | ||||||
chrX:18437203
|
A | AT | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+11513dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18437203 | |||||
chrX:18437718
|
AT | A | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+12027delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18437718 | |||||
chrX:18437947
|
C | G | 1 | a0001c0001t0004g0165 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-163+12252C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18437947 | ||||||
chrX:18438344
|
T | G | 5 | a0001c0001t0012g0001a0001c0001t0061g0005a0001c0002t0012g0002others(2): Show | 5 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.-163+12649T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438344 | ||||||
chrX:18438519
|
G | A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-163+12824G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438519 | ||||||
chrX:18438627
|
TA | T | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+12937delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18438627 | |||||
chrX:18438771
|
C | T | 1 | a0001c0001t0005g0011 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-163+13076C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438771 | ||||||
chrX:18438789
|
C | CA | 18 | a0001c0001t0001g0029a0001c0001t0001g0050a0001c0001t0002g0141others(15): Show | 18 | HG01099.hp1 HG02056.hp1 HG02071.hp1 others(15): Show |
intron_variant | MODIFIER | c.-163+13114dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18438789 | |||||
chrX:18438789
|
CA | C | 5 | a0001c0001t0002g0039a0001c0001t0005g0098a0001c0001t0005g0099others(2): Show | 5 | HG01943.hp1 HG02976.hp2 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.-163+13114delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18438789 | |||||
chrX:18438803
|
A | G | 1 | a0001c0001t0001g0130 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-163+13108A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438803 | ||||||
chrX:18438997
|
A | T | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-163+13302A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438997 | ||||||
chrX:18439036
|
C | T | 1 | a0001c0001t0008g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-163+13341C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439036 | ||||||
chrX:18439044
|
T | TG | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-163+13350dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439044 | |||||
chrX:18439045
|
G | GC | 69 | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0072others(66): Show | 69 | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.-163+13361dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GCC | 61 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0050others(58): Show | 61 | HG00280.hp1 HG00544.hp1 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.-163+13360_-163+13 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GCCC | 12 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0002g0158others(9): Show | 12 | HG01884.hp2 HG01928.hp1 HG02056.hp1 others(9): Show |
intron_variant | MODIFIER | c.-163+13359_-163+13 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GCCCC | 17 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0171others(14): Show | 17 | HG00544.hp2 HG01255.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.-163+13358_-163+13 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GCCCCC | 3 | a0001c0001t0004g0186a0001c0001t0063g0006a0004c0003t0036g0008 | 3 | HG00597.hp2 NA18974.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.-163+13357_-163+13 others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GCCCCCC | 1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-163+13356_-163+13 others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439045
|
G | GGC | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+13350_-163+13 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439045 | ||||||
chrX:18439045
|
GC | G | 10 | a0001c0001t0009g0133a0001c0001t0009g0134a0001c0001t0009g0135others(7): Show | 10 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.-163+13361delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439045 | |||||
chrX:18439057
|
G | C | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+13362G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439057 | ||||||
chrX:18439058
|
C | G | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+13363C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439058 | ||||||
chrX:18439080
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-163+13385T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439080 | ||||||
chrX:18439383
|
A | G | 1 | a0001c0001t0001g0094 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-163+13688A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439383 | ||||||
chrX:18439394
|
G | GGT | 6 | a0001c0001t0002g0036a0001c0001t0002g0105a0001c0001t0002g0158others(3): Show | 6 | HG02523.hp1 HG03195.hp2 NA18961.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+13726_-163+13 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439394 | |||||
chrX:18439394
|
G | GGTGT | 1 | a0001c0001t0047g0110 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-163+13724_-163+13 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439394 | |||||
chrX:18439394
|
G | GGTGTGTG others(11): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+13710_-163+13 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439394 | |||||
chrX:18439394
|
GGT | G | 2 | a0001c0001t0003g0055a0001c0001t0005g0068 | 2 | NA18960.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.-163+13726_-163+13 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439394 | |||||
chrX:18439394
|
GGTGT | G | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-163+13724_-163+13 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439394 | |||||
chrX:18439458
|
GGA | G | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+13766_-163+13 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439458 | |||||
chrX:18439708
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+14013C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439708 | ||||||
chrX:18439837
|
C | CA | 6 | a0001c0001t0001g0057a0001c0001t0009g0132a0001c0001t0019g0028others(3): Show | 6 | HG00738.hp1 HG03098.hp1 NA18940.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+14158dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439837 | |||||
chrX:18439837
|
CA | C | 38 | a0001c0001t0002g0038a0001c0001t0002g0169a0001c0001t0004g0165others(35): Show | 38 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.-163+14158delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439837 | |||||
chrX:18439868
|
A | C | 9 | a0001c0001t0001g0067a0001c0001t0001g0088a0001c0001t0001g0089others(6): Show | 9 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.-163+14173A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439868 | ||||||
chrX:18439905
|
T | TA | 31 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(28): Show | 31 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.-163+14221dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439905 | |||||
chrX:18439917
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+14222G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439917 | ||||||
chrX:18439948
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+14259dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18439948 | |||||
chrX:18440005
|
T | TG | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+14313dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18440005 | |||||
chrX:18440173
|
C | T | 6 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(3): Show | 6 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+14478C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440173 | ||||||
chrX:18440242
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+14547G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440242 | ||||||
chrX:18440661
|
C | T | 3 | a0001c0001t0002g0102a0001c0001t0002g0189a0001c0001t0002g0190 | 3 | HG02976.hp1 HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-163+14966C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440661 | ||||||
chrX:18440739
|
CTT | C | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-163+15046_-163+15 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18440739 | |||||
chrX:18440888
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+15193G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440888 | ||||||
chrX:18440951
|
G | A | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-163+15256G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440951 | ||||||
chrX:18440951
|
G | T | 34 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(31): Show | 34 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.-163+15256G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440951 | ||||||
chrX:18440969
|
T | C | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-163+15274T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18440969 | ||||||
chrX:18441181
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+15486C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441181 | ||||||
chrX:18441297
|
T | TC | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+15605dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441297 | |||||
chrX:18441403
|
A | AG | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+15709dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441403 | |||||
chrX:18441414
|
C | CA | 3 | a0001c0002t0012g0002a0001c0002t0012g0004a0001c0002t0032g0003 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-163+15730dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441414 | |||||
chrX:18441414
|
C | CAA | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-163+15729_-163+15 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441414 | |||||
chrX:18441535
|
G | GT | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+15843dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441535 | |||||
chrX:18441558
|
G | A | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-163+15863G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441558 | ||||||
chrX:18441626
|
G | GT | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-163+15938dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441626 | |||||
chrX:18441788
|
A | AT | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+16094dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441788 | |||||
chrX:18441830
|
C | T | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+16135C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441830 | ||||||
chrX:18441840
|
TC | T | 1 | a0001c0001t0003g0066 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-163+16147delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18441840 | |||||
chrX:18441874
|
G | A | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-163+16179G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441874 | ||||||
chrX:18441977
|
C | T | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+16282C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441977 | ||||||
chrX:18442079
|
G | C | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-163+16384G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442079 | ||||||
chrX:18442107
|
A | AG | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+16416dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442107 | |||||
chrX:18442160
|
A | G | 30 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.-163+16465A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442160 | ||||||
chrX:18442161
|
C | CA | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+16466_-163+16 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442161 | ||||||
chrX:18442357
|
G | A | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-163+16662G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442357 | ||||||
chrX:18442421
|
C | T | 2 | a0001c0001t0001g0046a0001c0001t0044g0016 | 2 | NA19000.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.-163+16726C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442421 | ||||||
chrX:18442467
|
T | TTTTTG | 10 | a0001c0001t0002g0105a0001c0001t0004g0165a0001c0001t0006g0154others(7): Show | 10 | HG00597.hp1 HG02074.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.-163+16813_-163+16 others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442467
|
T | TTTTTGTT others(3): Show |
1 | a0001c0001t0001g0048 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-163+16808_-163+16 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442467
|
TTTTTG | T | 8 | a0001c0001t0001g0115a0001c0001t0002g0128a0001c0001t0002g0169others(5): Show | 8 | HG01358.hp1 HG02602.hp1 HG03209.hp1 others(5): Show |
intron_variant | MODIFIER | c.-163+16813_-163+16 others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442467
|
TTTTTGTT others(3): Show |
T | 3 | a0001c0001t0003g0066a0001c0001t0056g0144a0001c0001t0061g0005 | 3 | HG01884.hp2 HG03225.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.-163+16808_-163+16 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442467
|
TTTTTGTT others(8): Show |
T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-163+16803_-163+16 others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442467
|
TTTTTGTT others(18): Show |
T | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+16793_-163+16 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442467 | |||||
chrX:18442482
|
GT | G | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+16791delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442482 | |||||
chrX:18442524
|
C | T | 3 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096 | 3 | HG01070.hp2 HG01071.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-163+16829C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442524 | ||||||
chrX:18442660
|
C | A | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-163+16965C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442660 | ||||||
chrX:18442741
|
G | T | 1 | a0001c0001t0017g0123 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-163+17046G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442741 | ||||||
chrX:18442788
|
C | CT | 1 | a0001c0001t0040g0116 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-163+17094dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442788 | |||||
chrX:18442791
|
G | A | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+17096G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442791 | ||||||
chrX:18442828
|
AT | A | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17135delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442828 | |||||
chrX:18442836
|
A | G | 1 | a0001c0001t0001g0122 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-163+17141A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442836 | ||||||
chrX:18442916
|
T | TC | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17223dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18442916 | |||||
chrX:18443031
|
G | GT | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17340dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18443031 | |||||
chrX:18443097
|
GT | G | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17405delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18443097 | |||||
chrX:18443136
|
C | T | 4 | a0001c0001t0004g0191a0001c0001t0004g0192a0001c0001t0022g0064others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+17441C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18443136 | ||||||
chrX:18443192
|
A | AG | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17500dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18443192 | |||||
chrX:18443346
|
TA | T | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17654delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18443346 | |||||
chrX:18443501
|
A | AC | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+17809dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18443501 | |||||
chrX:18443995
|
GA | G | 1 | a0001c0001t0018g0041 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-163+18301delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18443995 | ||||||
chrX:18444060
|
TG | T | 14 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.-163+18366delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444060 | ||||||
chrX:18444079
|
G | GT | 18 | a0001c0001t0001g0029a0001c0001t0001g0122a0001c0001t0002g0139others(15): Show | 18 | HG01070.hp1 HG01109.hp1 HG01934.hp1 others(15): Show |
intron_variant | MODIFIER | c.-163+18396dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18444079 | |||||
chrX:18444079
|
GT | G | 2 | a0001c0001t0001g0101a0001c0001t0001g0162 | 2 | HG04199.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.-163+18396delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18444079 | |||||
chrX:18444393
|
G | C | 1 | a0001c0001t0059g0071 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-163+18698G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444393 | ||||||
chrX:18444603
|
C | T | 26 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-163+18908C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444603 | ||||||
chrX:18444684
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+18989T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444684 | ||||||
chrX:18444775
|
C | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+19080C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444775 | ||||||
chrX:18444846
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+19151G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18444846 | ||||||
chrX:18445076
|
C | CT | 36 | a0001c0001t0001g0046a0001c0001t0002g0169a0001c0001t0004g0165others(33): Show | 36 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.-163+19400dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18445076 | |||||
chrX:18445076
|
CT | C | 2 | a0001c0001t0013g0013a0001c0001t0051g0018 | 2 | HG02523.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.-163+19400delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18445076 | |||||
chrX:18445638
|
C | T | 2 | a0001c0001t0001g0048a0001c0001t0001g0094 | 2 | HG00621.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.-163+19943C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18445638 | ||||||
chrX:18445650
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-163+19955G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18445650 | ||||||
chrX:18446110
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+20415G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18446110 | ||||||
chrX:18446189
|
C | CA | 33 | a0001c0001t0001g0046a0001c0001t0001g0050a0001c0001t0001g0088others(30): Show | 33 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.-163+20512dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18446189 | |||||
chrX:18446189
|
CA | C | 2 | a0001c0001t0001g0113a0001c0001t0061g0005 | 2 | HG01884.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.-163+20512delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18446189 | |||||
chrX:18446353
|
G | GA | 7 | a0001c0001t0001g0067a0001c0001t0001g0090a0001c0001t0001g0143others(4): Show | 7 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.-163+20668dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18446353 | |||||
chrX:18446353
|
G | GAA | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-163+20667_-163+20 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18446353 | |||||
chrX:18446411
|
A | AC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+20721dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18446411 | |||||
chrX:18446598
|
G | A | 27 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.-163+20903G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18446598 | ||||||
chrX:18446959
|
C | A | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-163+21264C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18446959 | ||||||
chrX:18447244
|
T | C | 36 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(33): Show | 36 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.-163+21549T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18447244 | ||||||
chrX:18447376
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-163+21681C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18447376 | ||||||
chrX:18447387
|
C | T | 28 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.-163+21692C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18447387 | ||||||
chrX:18447598
|
T | TA | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+21903_-163+21 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18447598 | ||||||
chrX:18447669
|
C | T | 69 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0089others(66): Show | 69 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(66): Show |
intron_variant | MODIFIER | c.-163+21974C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18447669 | ||||||
chrX:18447713
|
A | AC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+22019dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18447713 | |||||
chrX:18447874
|
A | AC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+22180dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18447874 | |||||
chrX:18448215
|
C | G | 1 | a0001c0001t0009g0135 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-163+22520C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448215 | ||||||
chrX:18448259
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0003g0100a0001c0001t0050g0058 | 3 | HG02630.hp2 HG03516.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-163+22564C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448259 | ||||||
chrX:18448278
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+22583A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448278 | ||||||
chrX:18448464
|
A | G | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+22769A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448464 | ||||||
chrX:18448569
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+22878dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18448569 | |||||
chrX:18448879
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+23184G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448879 | ||||||
chrX:18449207
|
TC | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+23514delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449207 | |||||
chrX:18449376
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+23681T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18449376 | ||||||
chrX:18449439
|
T | A | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-163+23744T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18449439 | ||||||
chrX:18449494
|
TC | T | 12 | a0001c0001t0001g0043a0001c0001t0002g0107a0001c0001t0003g0020others(9): Show | 12 | HG01261.hp1 HG01943.hp1 HG02293.hp1 others(9): Show |
intron_variant | MODIFIER | c.-163+23805delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449494 | |||||
chrX:18449499
|
C | T | 12 | a0001c0001t0001g0043a0001c0001t0002g0107a0001c0001t0003g0020others(9): Show | 12 | HG01261.hp1 HG01943.hp1 HG02293.hp1 others(9): Show |
intron_variant | MODIFIER | c.-163+23804C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18449499 | ||||||
chrX:18449501
|
T | TG | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+23807dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449501 | |||||
chrX:18449677
|
T | TA | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+23987dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449677 | |||||
chrX:18449742
|
C | A | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-163+24047C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18449742 | ||||||
chrX:18449797
|
C | CT | 2 | a0001c0001t0044g0016a0004c0003t0036g0008 | 2 | NA18974.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-163+24117dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449797 | |||||
chrX:18449797
|
C | CTT | 1 | a0001c0001t0002g0035 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.-163+24116_-163+24 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449797 | |||||
chrX:18449797
|
CT | C | 1 | a0002c0005t0002g0114 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.-163+24117delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449797 | |||||
chrX:18449830
|
CTG | C | 1 | a0001c0001t0004g0177 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.-163+24137_-163+24 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449830 | |||||
chrX:18449901
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+24210dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18449901 | |||||
chrX:18450021
|
T | C | 1 | a0001c0001t0063g0006 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-163+24326T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450021 | ||||||
chrX:18450122
|
G | A | 2 | a0001c0001t0002g0010a0001c0001t0005g0011 | 2 | HG01517.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.-163+24427G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450122 | ||||||
chrX:18450204
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+24509G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450204 | ||||||
chrX:18450268
|
G | GT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+24579dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18450268 | |||||
chrX:18450368
|
T | G | 6 | a0001c0001t0012g0001a0001c0001t0037g0155a0001c0001t0061g0005others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.-163+24673T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450368 | ||||||
chrX:18450563
|
A | T | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-163+24868A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450563 | ||||||
chrX:18450582
|
C | CT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+24896dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18450582 | |||||
chrX:18450874
|
C | CT | 3 | a0001c0001t0001g0115a0001c0001t0034g0015a0001c0001t0037g0155 | 3 | HG02723.hp1 HG03209.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-163+25194dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18450874 | |||||
chrX:18450874
|
C | CTT | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+25193_-163+25 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18450874 | |||||
chrX:18450967
|
C | CA | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+25273dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18450967 | |||||
chrX:18451313
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+25618T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451313 | ||||||
chrX:18451575
|
G | A | 34 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(31): Show | 34 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.-163+25880G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451575 | ||||||
chrX:18451688
|
C | A | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-163+25993C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451688 | ||||||
chrX:18451793
|
G | T | 1 | a0001c0001t0053g0127 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-163+26098G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451793 | ||||||
chrX:18451811
|
A | G | 1 | a0001c0001t0008g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-163+26116A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451811 | ||||||
chrX:18451979
|
C | T | 1 | a0001c0001t0005g0098 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-163+26284C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18451979 | ||||||
chrX:18452112
|
A | G | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-163+26417A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18452112 | ||||||
chrX:18452114
|
T | TA | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+26421dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452114 | |||||
chrX:18452428
|
T | A | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+26733T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18452428 | ||||||
chrX:18452515
|
T | TC | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+26823dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452515 | |||||
chrX:18452714
|
TC | T | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+27021delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452714 | |||||
chrX:18452779
|
G | GT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+27086dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452779 | |||||
chrX:18452801
|
AT | A | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+27109delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452801 | |||||
chrX:18452819
|
G | GT | 25 | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0057others(22): Show | 25 | HG00621.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.-163+27153dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
G | GTT | 28 | a0001c0001t0001g0162a0001c0001t0002g0156a0001c0001t0002g0158others(25): Show | 28 | HG00597.hp1 HG00673.hp1 HG01257.hp2 others(25): Show |
intron_variant | MODIFIER | c.-163+27152_-163+27 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
G | GTTT | 8 | a0001c0001t0002g0157a0001c0001t0004g0165a0001c0001t0004g0176others(5): Show | 8 | HG00544.hp2 HG00597.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.-163+27151_-163+27 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
G | GTTTT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+27150_-163+27 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
GT | G | 11 | a0001c0001t0001g0059a0001c0001t0002g0031a0001c0001t0002g0119others(8): Show | 11 | HG02109.hp2 HG02300.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.-163+27153delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
GTT | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+27152_-163+27 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452819
|
GTTT | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+27151_-163+27 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452819 | |||||
chrX:18452888
|
TG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+27195delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452888 | |||||
chrX:18452997
|
AT | A | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+27307delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18452997 | |||||
chrX:18453086
|
TC | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+27394delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18453086 | |||||
chrX:18453088
|
CCA | C | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+27394_-163+27 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453088 | ||||||
chrX:18453151
|
GC | G | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+27459delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18453151 | |||||
chrX:18453161
|
T | A | 1 | a0001c0001t0002g0158 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+27466T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453161 | ||||||
chrX:18453491
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-163+27796G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453491 | ||||||
chrX:18453520
|
G | A | 1 | a0001c0002t0012g0004 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.-163+27825G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453520 | ||||||
chrX:18453638
|
G | A | 1 | a0001c0001t0005g0011 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-163+27943G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453638 | ||||||
chrX:18453816
|
GA | G | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+28126delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18453816 | |||||
chrX:18454140
|
C | T | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-163+28445C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18454140 | ||||||
chrX:18454243
|
CT | C | 1 | a0001c0001t0004g0177 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.-163+28559delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18454243 | |||||
chrX:18454524
|
C | T | 1 | a0001c0001t0059g0071 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-163+28829C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18454524 | ||||||
chrX:18454778
|
A | T | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-163+29083A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18454778 | ||||||
chrX:18454890
|
A | AT | 17 | a0001c0001t0002g0035a0001c0001t0003g0055a0001c0001t0004g0191others(14): Show | 17 | HG00140.hp1 HG00280.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.-163+29215dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18454890 | |||||
chrX:18454890
|
A | ATT | 29 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(26): Show | 29 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.-163+29214_-163+29 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18454890 | |||||
chrX:18454890
|
AT | A | 6 | a0001c0001t0001g0059a0001c0001t0001g0067a0001c0001t0014g0103others(3): Show | 6 | HG01884.hp2 HG02300.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+29215delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18454890 | |||||
chrX:18455135
|
C | T | 7 | a0001c0001t0001g0162a0001c0001t0002g0156a0001c0001t0002g0157others(4): Show | 7 | HG00597.hp1 NA18612.hp1 NA18943.hp1 others(4): Show |
intron_variant | MODIFIER | c.-163+29440C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18455135 | ||||||
chrX:18455194
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-163+29499T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18455194 | ||||||
chrX:18455269
|
A | C | 1 | a0001c0001t0001g0050 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-163+29574A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18455269 | ||||||
chrX:18456475
|
A | G | 1 | a0001c0001t0031g0032 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-163+30780A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18456475 | ||||||
chrX:18456800
|
C | T | 1 | a0001c0001t0051g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-163+31105C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18456800 | ||||||
chrX:18456851
|
C | T | 1 | a0001c0001t0009g0135 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-163+31156C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18456851 | ||||||
chrX:18456880
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+31185G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18456880 | ||||||
chrX:18457344
|
A | G | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-163+31649A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457344 | ||||||
chrX:18457418
|
T | C | 1 | a0001c0001t0013g0027 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-163+31723T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457418 | ||||||
chrX:18457431
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+31736C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457431 | ||||||
chrX:18457508
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+31813T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457508 | ||||||
chrX:18457626
|
G | GT | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-163+31940dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18457626 | |||||
chrX:18457630
|
T | G | 6 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0115others(3): Show | 6 | HG01884.hp2 HG02015.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-163+31935T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457630 | ||||||
chrX:18457912
|
C | CT | 43 | a0001c0001t0001g0072a0001c0001t0001g0090a0001c0001t0001g0093others(40): Show | 43 | HG00544.hp2 HG01070.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.-163+32242dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18457912 | |||||
chrX:18457912
|
C | CTT | 3 | a0001c0001t0003g0087a0001c0001t0009g0134a0001c0001t0050g0058 | 3 | NA18906.hp1 NA18990.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-163+32241_-163+32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18457912 | |||||
chrX:18457912
|
CT | C | 2 | a0001c0001t0061g0005a0004c0003t0036g0008 | 2 | HG01884.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.-163+32242delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18457912 | |||||
chrX:18458587
|
GT | G | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-163+32894delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18458587 | |||||
chrX:18458720
|
C | CA | 3 | a0001c0001t0001g0115a0001c0001t0005g0073a0001c0001t0016g0117 | 3 | HG03017.hp1 HG03654.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-163+33036dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18458720 | |||||
chrX:18458807
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+33112T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18458807 | ||||||
chrX:18458833
|
A | G | 1 | a0001c0001t0048g0124 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-163+33138A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18458833 | ||||||
chrX:18458915
|
G | A | 2 | a0001c0001t0006g0154a0001c0001t0057g0153 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-163+33220G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18458915 | ||||||
chrX:18459149
|
A | G | 1 | a0001c0001t0003g0061 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-163+33454A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459149 | ||||||
chrX:18459250
|
G | A | 1 | a0001c0001t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-163+33555G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459250 | ||||||
chrX:18459279
|
A | G | 187 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(184): Show | 187 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(184): Show |
intron_variant | MODIFIER | c.-163+33584A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459279 | ||||||
chrX:18459403
|
C | CA | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-163+33717dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18459403 | |||||
chrX:18459540
|
C | T | 5 | a0001c0001t0003g0125a0001c0001t0005g0053a0001c0001t0005g0098others(2): Show | 5 | HG01099.hp1 HG01928.hp1 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.-163+33845C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459540 | ||||||
chrX:18459693
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+33998T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459693 | ||||||
chrX:18459698
|
C | CT | 13 | a0001c0001t0001g0057a0001c0001t0002g0169a0001c0001t0003g0100others(10): Show | 13 | HG00140.hp1 HG00642.hp1 HG01934.hp1 others(10): Show |
intron_variant | MODIFIER | c.-163+34028dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18459698 | |||||
chrX:18459698
|
C | CTTT | 2 | a0001c0001t0022g0064a0001c0001t0022g0065 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-163+34026_-163+34 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18459698 | |||||
chrX:18459698
|
CT | C | 9 | a0001c0001t0002g0074a0001c0001t0002g0102a0001c0001t0004g0166others(6): Show | 9 | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.-163+34028delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18459698 | |||||
chrX:18459698
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0002g0157 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-163+34018_-163+34 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18459698 | |||||
chrX:18459706
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-163+34011T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459706 | ||||||
chrX:18459872
|
T | A | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-163+34177T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459872 | ||||||
chrX:18460021
|
C | T | 13 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(10): Show | 13 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-163+34326C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460021 | ||||||
chrX:18460165
|
T | TTGAGACA others(4): Show |
2 | a0001c0001t0005g0075a0001c0001t0005g0076 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-163+34475_-163+34 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18460165 | |||||
chrX:18460186
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+34491G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460186 | ||||||
chrX:18460383
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+34688G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460383 | ||||||
chrX:18460408
|
G | A | 7 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.-163+34713G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460408 | ||||||
chrX:18460556
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+34861G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460556 | ||||||
chrX:18460675
|
A | AT | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-163+34986dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18460675 | |||||
chrX:18460754
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(1): Show | 4 | HG02258.hp1 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+35059G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460754 | ||||||
chrX:18460936
|
C | T | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-163+35241C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460936 | ||||||
chrX:18461100
|
A | C | 2 | a0001c0001t0002g0141a0001c0001t0002g0142 | 2 | HG02165.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.-163+35405A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461100 | ||||||
chrX:18461116
|
G | A | 2 | a0001c0001t0054g0024a0001c0001t0062g0051 | 2 | HG01099.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.-163+35421G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461116 | ||||||
chrX:18461177
|
G | A | 27 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.-163+35482G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461177 | ||||||
chrX:18461406
|
T | TG | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-163+35715dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18461406 | |||||
chrX:18461480
|
A | AC | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-163+35785_-163+35 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461480 | ||||||
chrX:18461685
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+35990A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461685 | ||||||
chrX:18461835
|
G | A | 27 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.-163+36140G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461835 | ||||||
chrX:18461839
|
G | T | 27 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.-163+36144G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18461839 | ||||||
chrX:18462016
|
T | C | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-163+36321T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462016 | ||||||
chrX:18462045
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+36350G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462045 | ||||||
chrX:18462079
|
G | GT | 14 | a0001c0001t0001g0137a0001c0001t0002g0158a0001c0001t0003g0066others(11): Show | 14 | HG00597.hp1 HG01070.hp1 HG01257.hp2 others(11): Show |
intron_variant | MODIFIER | c.-163+36399dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18462079 | |||||
chrX:18462079
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+36384G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462079 | ||||||
chrX:18462079
|
GT | G | 5 | a0001c0001t0005g0075a0001c0001t0005g0076a0001c0001t0014g0012others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.-163+36399delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18462079 | |||||
chrX:18462499
|
T | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+36804T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462499 | ||||||
chrX:18462520
|
T | C | 1 | a0001c0001t0011g0180 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-163+36825T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462520 | ||||||
chrX:18462980
|
C | T | 1 | a0001c0001t0002g0119 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-163+37285C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18462980 | ||||||
chrX:18463060
|
G | A | 1 | a0001c0001t0004g0185 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-163+37365G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18463060 | ||||||
chrX:18463948
|
C | T | 1 | a0001c0002t0012g0002 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-163+38253C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18463948 | ||||||
chrX:18464031
|
G | GT | 1 | a0001c0001t0001g0130 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-163+38346dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18464031 | |||||
chrX:18464031
|
G | GTT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+38345_-163+38 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18464031 | |||||
chrX:18464041
|
T | A | 5 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(2): Show | 5 | HG02145.hp1 HG02647.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.-163+38346T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464041 | ||||||
chrX:18464235
|
G | A | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+38540G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464235 | ||||||
chrX:18464301
|
G | GT | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-163+38607dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18464301 | |||||
chrX:18464435
|
A | G | 2 | a0001c0001t0002g0156a0001c0001t0002g0157 | 2 | NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.-163+38740A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464435 | ||||||
chrX:18464545
|
C | T | 64 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(61): Show | 64 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.-163+38850C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464545 | ||||||
chrX:18465076
|
TCCA | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-163+39384_-163+39 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18465076 | |||||
chrX:18465090
|
G | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-163+39395G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18465090 | ||||||
chrX:18465292
|
A | G | 52 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(49): Show | 52 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.-163+39597A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18465292 | ||||||
chrX:18465368
|
C | T | 8 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.-163+39673C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18465368 | ||||||
chrX:18465519
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+39824A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18465519 | ||||||
chrX:18465594
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-163+39899G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18465594 | ||||||
chrX:18466099
|
G | A | 26 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-163+40404G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18466099 | ||||||
chrX:18466253
|
G | A | 26 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-163+40558G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18466253 | ||||||
chrX:18466355
|
A | G | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-162-40580A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18466355 | ||||||
chrX:18466906
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-40029C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18466906 | ||||||
chrX:18467153
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-39782G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18467153 | ||||||
chrX:18467233
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-39702A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18467233 | ||||||
chrX:18467235
|
A | AAGG | 1 | a0001c0001t0001g0081 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-162-39698_-162-39 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18467235 | |||||
chrX:18467891
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-39044G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18467891 | ||||||
chrX:18468069
|
T | TA | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-38860dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18468069 | |||||
chrX:18468624
|
A | AAC | 1 | a0001c0001t0010g0170 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.-162-38306_-162-38 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18468624 | |||||
chrX:18468714
|
A | C | 15 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(12): Show | 15 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-162-38221A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18468714 | ||||||
chrX:18468770
|
A | G | 4 | a0001c0001t0021g0111a0001c0001t0021g0112a0001c0001t0023g0040others(1): Show | 4 | HG01884.hp1 HG02451.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-38165A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18468770 | ||||||
chrX:18468810
|
G | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-162-38125G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18468810 | ||||||
chrX:18468887
|
AC | A | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-38045delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18468887 | |||||
chrX:18469065
|
G | C | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-162-37870G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18469065 | ||||||
chrX:18469144
|
GC | G | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-37789delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469144 | |||||
chrX:18469308
|
C | T | 2 | a0001c0001t0005g0075a0001c0001t0005g0076 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-162-37627C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18469308 | ||||||
chrX:18469338
|
C | CA | 38 | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0057others(35): Show | 38 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(35): Show |
intron_variant | MODIFIER | c.-162-37570dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469338 | |||||
chrX:18469338
|
CA | C | 19 | a0001c0001t0001g0059a0001c0001t0001g0136a0001c0001t0002g0023others(16): Show | 19 | HG00609.hp1 HG01256.hp1 HG01258.hp1 others(16): Show |
intron_variant | MODIFIER | c.-162-37570delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469338 | |||||
chrX:18469338
|
CAA | C | 2 | a0001c0001t0017g0145a0001c0001t0023g0021 | 2 | HG02717.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.-162-37571_-162-37 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469338 | |||||
chrX:18469591
|
T | C | 1 | a0001c0001t0002g0049 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-162-37344T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18469591 | ||||||
chrX:18469639
|
ACT | A | 1 | a0001c0001t0019g0028 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.-162-37293_-162-37 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469639 | |||||
chrX:18469648
|
C | CA | 2 | a0001c0001t0002g0146a0001c0001t0038g0131 | 2 | HG02132.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.-162-37269dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469648 | |||||
chrX:18469648
|
C | CAA | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-37270_-162-37 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469648 | |||||
chrX:18469648
|
CA | C | 26 | a0001c0001t0002g0031a0001c0001t0002g0169a0001c0001t0004g0166others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-162-37269delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469648 | |||||
chrX:18469648
|
CAA | C | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-162-37270_-162-37 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469648 | |||||
chrX:18469803
|
A | ACC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-37131_-162-37 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469803 | |||||
chrX:18469972
|
TA | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-36960delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469972 | |||||
chrX:18470070
|
C | T | 1 | a0001c0001t0003g0055 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.-162-36865C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470070 | ||||||
chrX:18470136
|
A | AG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-36798dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470136 | |||||
chrX:18470335
|
C | CA | 2 | a0001c0001t0001g0046a0001c0001t0007g0014 | 2 | HG04115.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.-162-36589dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470335 | |||||
chrX:18470335
|
CAAAAAAA others(16): Show |
C | 57 | a0001c0001t0001g0043a0001c0001t0001g0072a0001c0001t0002g0169others(54): Show | 57 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.-162-36561_-162-36 others(29): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470335 | |||||
chrX:18470350
|
G | GA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-36581dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470350 | |||||
chrX:18470355
|
G | GA | 2 | a0001c0001t0002g0158a0001c0001t0008g0097 | 2 | HG02055.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.-162-36566dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470355 | |||||
chrX:18470355
|
GA | G | 2 | a0001c0001t0001g0162a0002c0005t0002g0114 | 2 | HG01167.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.-162-36566delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470355 | |||||
chrX:18470355
|
GAAAAAAA others(17): Show |
G | 6 | a0001c0001t0010g0170a0001c0001t0010g0172a0001c0001t0012g0001others(3): Show | 6 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.-162-36566_-162-36 others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470355 | |||||
chrX:18470378
|
G | GAAAAAAA others(17): Show |
1 | a0001c0001t0001g0101 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-162-36539_-162-36 others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470378 | |||||
chrX:18470378
|
GA | G | 6 | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0003g0020others(3): Show | 6 | HG02602.hp1 HG02698.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.-162-36543delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470378 | |||||
chrX:18470527
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-36408T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470527 | ||||||
chrX:18470630
|
A | G | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-162-36305A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470630 | ||||||
chrX:18470700
|
C | T | 18 | a0001c0001t0001g0029a0001c0001t0001g0059a0001c0001t0002g0023others(15): Show | 18 | HG00609.hp1 HG01069.hp1 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.-162-36235C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470700 | ||||||
chrX:18470775
|
A | G | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-162-36160A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470775 | ||||||
chrX:18470851
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-36081dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18470851 | |||||
chrX:18471777
|
C | T | 39 | a0001c0001t0002g0169a0001c0001t0002g0189a0001c0001t0002g0190others(36): Show | 39 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(36): Show |
intron_variant | MODIFIER | c.-162-35158C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18471777 | ||||||
chrX:18471885
|
G | GT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-35050_-162-35 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18471885 | ||||||
chrX:18471999
|
C | T | 1 | a0001c0001t0004g0171 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-162-34936C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18471999 | ||||||
chrX:18472090
|
A | AC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34841dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472090 | |||||
chrX:18472173
|
T | A | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34762T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472173 | ||||||
chrX:18472284
|
T | A | 65 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(62): Show | 65 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.-162-34651T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472284 | ||||||
chrX:18472388
|
A | AAT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34546_-162-34 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472388 | |||||
chrX:18472395
|
GGC | G | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34539_-162-34 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472395 | ||||||
chrX:18472399
|
A | C | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34536A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472399 | ||||||
chrX:18472400
|
G | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34535G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472400 | ||||||
chrX:18472529
|
G | GA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34403dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472529 | |||||
chrX:18472569
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-34366G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472569 | ||||||
chrX:18472820
|
A | AT | 1 | a0001c0001t0001g0115 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-162-34111dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472820 | |||||
chrX:18472857
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-34078T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472857 | ||||||
chrX:18472859
|
G | A | 5 | a0001c0001t0001g0060a0001c0001t0001g0130a0001c0001t0008g0118others(2): Show | 5 | HG00642.hp1 HG01978.hp1 NA18941.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162-34076G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472859 | ||||||
chrX:18472946
|
TC | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-33988delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472946 | ||||||
chrX:18472955
|
A | AT | 4 | a0001c0001t0004g0183a0001c0001t0047g0110a0001c0001t0063g0006others(1): Show | 4 | HG00597.hp2 HG02165.hp1 HG02602.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-33962dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472955 | |||||
chrX:18472955
|
A | ATT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-33963_-162-33 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472955 | |||||
chrX:18472955
|
AT | A | 4 | a0001c0001t0001g0162a0001c0001t0002g0036a0001c0001t0004g0185others(1): Show | 4 | NA18994.hp1 NA19062.hp1 NA19081.hp2 others(1): Show |
intron_variant | MODIFIER | c.-162-33962delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18472955 | |||||
chrX:18473088
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-33844dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473088 | |||||
chrX:18473210
|
C | T | 1 | a0001c0006t0002g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-162-33725C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18473210 | ||||||
chrX:18473401
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-33524dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473401 | |||||
chrX:18473581
|
TC | T | 1 | a0002c0005t0002g0114 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.-162-33349delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473581 | |||||
chrX:18473642
|
C | T | 1 | a0001c0001t0017g0145 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-162-33293C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18473642 | ||||||
chrX:18473712
|
C | CT | 6 | a0001c0001t0002g0119a0001c0001t0002g0139a0001c0001t0008g0097others(3): Show | 6 | HG02055.hp1 NA19004.hp1 NA19043.hp1 others(3): Show |
intron_variant | MODIFIER | c.-162-33207dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473712 | |||||
chrX:18473712
|
CT | C | 10 | a0001c0001t0001g0104a0001c0001t0005g0075a0001c0001t0012g0001others(7): Show | 10 | HG01070.hp1 HG01167.hp1 HG01257.hp1 others(7): Show |
intron_variant | MODIFIER | c.-162-33207delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473712 | |||||
chrX:18473883
|
C | T | 3 | a0001c0002t0012g0002a0001c0002t0012g0004a0001c0002t0032g0003 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-162-33052C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18473883 | ||||||
chrX:18473888
|
GA | G | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-33045delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473888 | |||||
chrX:18473899
|
C | CT | 3 | a0001c0001t0009g0134a0001c0001t0021g0111a0001c0001t0021g0112 | 3 | HG01884.hp1 NA18906.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-162-33022dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473899 | |||||
chrX:18473899
|
CT | C | 9 | a0001c0001t0004g0185a0001c0001t0012g0001a0001c0001t0034g0015others(6): Show | 9 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.-162-33022delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18473899 | |||||
chrX:18474017
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32917dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474017 | |||||
chrX:18474306
|
AATTGTAA others(136): Show |
A | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32626_-162-32 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474306 | |||||
chrX:18474454
|
T | TC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32480dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474454 | |||||
chrX:18474478
|
G | GT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32454dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474478 | |||||
chrX:18474495
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32439dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474495 | |||||
chrX:18474500
|
G | GTT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32434_-162-32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474500 | |||||
chrX:18474508
|
T | TA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32423dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474508 | |||||
chrX:18474539
|
A | AAC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32396_-162-32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474539 | ||||||
chrX:18474541
|
C | A | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32394C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474541 | ||||||
chrX:18474549
|
A | AC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32385dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474549 | |||||
chrX:18474573
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32359dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474573 | |||||
chrX:18474589
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32344dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474589 | |||||
chrX:18474601
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32332dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474601 | |||||
chrX:18474605
|
G | GGCC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32330_-162-32 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474605 | ||||||
chrX:18474608
|
C | T | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32327C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474608 | ||||||
chrX:18474622
|
T | TA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32310dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474622 | |||||
chrX:18474635
|
T | TG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32299dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474635 | |||||
chrX:18474662
|
T | TA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32269dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474662 | |||||
chrX:18474677
|
G | GT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32254dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474677 | |||||
chrX:18474706
|
A | AAT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32229_-162-32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474706 | ||||||
chrX:18474707
|
T | C | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32228T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474707 | ||||||
chrX:18474726
|
T | TA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32207dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474726 | |||||
chrX:18474741
|
G | GA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32190dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474741 | |||||
chrX:18474747
|
C | CA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32186dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474747 | |||||
chrX:18474750
|
C | T | 2 | a0001c0001t0060g0092a0001c0001t0061g0005 | 2 | HG01884.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-162-32185C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474750 | ||||||
chrX:18474763
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32171dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474763 | |||||
chrX:18474774
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32158dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474774 | |||||
chrX:18474790
|
T | TC | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32143dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474790 | |||||
chrX:18474802
|
G | GT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32130dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474802 | |||||
chrX:18474858
|
T | TTA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32077_-162-32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474858 | ||||||
chrX:18474890
|
G | GA | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32043dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474890 | |||||
chrX:18474896
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32035dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474896 | |||||
chrX:18474903
|
C | G | 3 | a0001c0002t0012g0002a0001c0002t0012g0004a0001c0002t0032g0003 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-162-32032C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474903 | ||||||
chrX:18474904
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32027dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474904 | |||||
chrX:18474920
|
A | ATT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32011_-162-32 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474920 | |||||
chrX:18474941
|
T | A | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-162-31994T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474941 | ||||||
chrX:18474948
|
A | AT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-31981dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474948 | |||||
chrX:18474963
|
G | GT | 7 | a0001c0001t0001g0060a0001c0001t0002g0036a0001c0001t0003g0061others(4): Show | 7 | HG01192.hp1 HG01884.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.-162-31959dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474963 | |||||
chrX:18474963
|
G | GTT | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-31960_-162-31 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474963 | |||||
chrX:18474963
|
GT | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-31959delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18474963 | |||||
chrX:18475002
|
A | AG | 1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-31931dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18475002 | |||||
chrX:18475012
|
G | GCAGTGGC others(92): Show |
1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-31881_-162-31 others(105): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18475012 | |||||
chrX:18475246
|
A | G | 3 | a0001c0001t0002g0107a0001c0001t0008g0054a0001c0001t0028g0175 | 3 | HG01255.hp1 HG01261.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.-162-31689A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475246 | ||||||
chrX:18475258
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-31677T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475258 | ||||||
chrX:18475295
|
T | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-31640T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475295 | ||||||
chrX:18475421
|
A | C | 8 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.-162-31514A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475421 | ||||||
chrX:18475574
|
G | A | 1 | a0001c0001t0016g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-162-31361G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475574 | ||||||
chrX:18475627
|
A | C | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.-162-31308A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475627 | ||||||
chrX:18475876
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-31059G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475876 | ||||||
chrX:18475965
|
G | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.-162-30970G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18475965 | ||||||
chrX:18476130
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-30805A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476130 | ||||||
chrX:18476436
|
C | T | 1 | a0001c0001t0015g0188 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-162-30499C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476436 | ||||||
chrX:18476475
|
C | G | 3 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096 | 3 | HG01070.hp2 HG01071.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-162-30460C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476475 | ||||||
chrX:18476549
|
T | C | 28 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.-162-30386T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476549 | ||||||
chrX:18476656
|
T | C | 2 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | NA18941.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.-162-30279T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476656 | ||||||
chrX:18476774
|
C | CT | 1 | a0001c0001t0034g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-162-30150dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18476774 | |||||
chrX:18476774
|
C | CTT | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-162-30151_-162-30 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18476774 | |||||
chrX:18476869
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-30066C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476869 | ||||||
chrX:18476876
|
C | T | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-162-30059C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476876 | ||||||
chrX:18476961
|
A | G | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-162-29974A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18476961 | ||||||
chrX:18477183
|
C | T | 1 | a0001c0001t0002g0102 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-162-29752C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18477183 | ||||||
chrX:18477301
|
A | C | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-162-29634A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18477301 | ||||||
chrX:18477487
|
C | T | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-162-29448C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18477487 | ||||||
chrX:18478063
|
TA | T | 1 | a0001c0001t0001g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-162-28868delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478063 | |||||
chrX:18478252
|
C | A | 1 | a0001c0001t0052g0086 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-162-28683C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18478252 | ||||||
chrX:18478286
|
CT | C | 146 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(143): Show | 146 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(143): Show |
intron_variant | MODIFIER | c.-162-28631delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478286 | |||||
chrX:18478286
|
CTT | C | 2 | a0001c0001t0003g0083a0001c0001t0004g0185 | 2 | NA18948.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.-162-28632_-162-28 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478286 | |||||
chrX:18478468
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-28467C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18478468 | ||||||
chrX:18478471
|
AG | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-28463delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18478471 | ||||||
chrX:18478679
|
CT | C | 2 | a0001c0001t0011g0179a0004c0003t0036g0008 | 2 | NA18974.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.-162-28241delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478679 | |||||
chrX:18478679
|
CTT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-28242_-162-28 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478679 | |||||
chrX:18478741
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-28194G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18478741 | ||||||
chrX:18479035
|
T | C | 1 | a0001c0001t0002g0119 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-162-27900T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18479035 | ||||||
chrX:18479314
|
C | CT | 13 | a0001c0001t0001g0090a0001c0001t0001g0101a0001c0001t0001g0122others(10): Show | 13 | HG00544.hp1 HG00597.hp2 HG02027.hp1 others(10): Show |
intron_variant | MODIFIER | c.-162-27598dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18479314 | |||||
chrX:18479314
|
CT | C | 10 | a0001c0001t0001g0130a0001c0001t0002g0033a0001c0001t0005g0011others(7): Show | 10 | HG00642.hp1 HG01070.hp1 HG01517.hp2 others(7): Show |
intron_variant | MODIFIER | c.-162-27598delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18479314 | |||||
chrX:18479314
|
CTT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-27599_-162-27 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18479314 | |||||
chrX:18479420
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-162-27515C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18479420 | ||||||
chrX:18479510
|
G | A | 3 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096 | 3 | HG01070.hp2 HG01071.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-162-27425G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18479510 | ||||||
chrX:18479923
|
A | G | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-162-27012A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18479923 | ||||||
chrX:18479949
|
CAA | C | 1 | a0001c0001t0004g0185 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-162-26984_-162-26 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18479949 | |||||
chrX:18480109
|
A | T | 156 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(153): Show | 156 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(153): Show |
intron_variant | MODIFIER | c.-162-26826A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480109 | ||||||
chrX:18480375
|
G | A | 1 | a0001c0001t0003g0020 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-162-26560G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480375 | ||||||
chrX:18480415
|
A | T | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-162-26520A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480415 | ||||||
chrX:18480500
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-26435A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480500 | ||||||
chrX:18480560
|
T | G | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.-162-26375T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480560 | ||||||
chrX:18480809
|
C | CCTTCTTC others(11): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-26118_-162-26 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18480809 | |||||
chrX:18480857
|
C | CT | 4 | a0001c0001t0028g0175a0001c0001t0031g0032a0001c0001t0037g0155others(1): Show | 4 | HG01255.hp1 HG03209.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-26061dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18480857 | |||||
chrX:18480857
|
CT | C | 1 | a0001c0001t0002g0031 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.-162-26061delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18480857 | |||||
chrX:18480857
|
CTT | C | 1 | a0001c0001t0001g0059 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-162-26062_-162-26 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18480857 | |||||
chrX:18480857
|
CTTTTTTT | C | 59 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(56): Show | 59 | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(56): Show |
intron_variant | MODIFIER | c.-162-26067_-162-26 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18480857 | |||||
chrX:18480931
|
C | G | 1 | a0001c0001t0001g0088 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-162-26004C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18480931 | ||||||
chrX:18481102
|
A | G | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-162-25833A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481102 | ||||||
chrX:18481139
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-25796G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481139 | ||||||
chrX:18481208
|
C | CT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-25718dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481208 | |||||
chrX:18481270
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-25665A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481270 | ||||||
chrX:18481320
|
G | GTTTC | 8 | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0001g0090others(5): Show | 8 | HG00280.hp1 HG01256.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.-162-25567_-162-25 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
G | GTTTCTTT others(1): Show |
4 | a0001c0001t0001g0164a0001c0001t0002g0169a0001c0001t0004g0165others(1): Show | 4 | HG02074.hp1 HG02630.hp1 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-25571_-162-25 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
G | GTTTCTTT others(5): Show |
10 | a0001c0001t0001g0122a0001c0001t0004g0166a0001c0001t0004g0176others(7): Show | 10 | HG00544.hp2 HG00673.hp1 HG01257.hp2 others(7): Show |
intron_variant | MODIFIER | c.-162-25575_-162-25 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
G | GTTTCTTT others(9): Show |
6 | a0001c0001t0009g0132a0001c0001t0009g0135a0001c0001t0010g0173others(3): Show | 6 | HG02965.hp1 HG03098.hp1 HG03927.hp2 others(3): Show |
intron_variant | MODIFIER | c.-162-25579_-162-25 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
G | GTTTCTTT others(13): Show |
4 | a0001c0001t0004g0171a0001c0001t0004g0186a0001c0001t0010g0170others(1): Show | 4 | NA18988.hp1 NA19063.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-25583_-162-25 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
G | GTTTCTTT others(17): Show |
2 | a0001c0001t0004g0185a0001c0001t0009g0133 | 2 | HG03130.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.-162-25587_-162-25 others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
GTTTC | G | 35 | a0001c0001t0001g0025a0001c0001t0001g0050a0001c0001t0001g0072others(32): Show | 35 | HG00609.hp1 HG00642.hp1 HG01261.hp1 others(32): Show |
intron_variant | MODIFIER | c.-162-25567_-162-25 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
GTTTCTTT others(1): Show |
G | 57 | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0046others(54): Show | 57 | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(54): Show |
intron_variant | MODIFIER | c.-162-25571_-162-25 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
GTTTCTTT others(5): Show |
G | 14 | a0001c0001t0003g0125a0001c0001t0005g0053a0001c0001t0005g0098others(11): Show | 14 | HG01099.hp1 HG01884.hp1 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.-162-25575_-162-25 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481320
|
GTTTCTTT others(9): Show |
G | 5 | a0001c0001t0014g0012a0001c0001t0023g0021a0001c0001t0024g0095others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162-25579_-162-25 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481320 | |||||
chrX:18481370
|
T | TTCTTTCT others(187): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-25564_-162-25 others(200): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481370 | |||||
chrX:18481370
|
T | TTCTTTCT others(147): Show |
1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-25564_-162-25 others(160): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481370 | |||||
chrX:18481372
|
TGA | T | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-162-25561_-162-25 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481372 | |||||
chrX:18481383
|
G | A | 1 | a0001c0001t0005g0098 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-162-25552G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481383 | ||||||
chrX:18481419
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-25516C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481419 | ||||||
chrX:18481442
|
T | A | 1 | a0001c0001t0015g0188 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-162-25493T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481442 | ||||||
chrX:18481527
|
A | AT | 19 | a0001c0001t0001g0029a0001c0001t0002g0010a0001c0001t0002g0031others(16): Show | 19 | HG01070.hp1 HG02056.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.-162-25392dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481527 | |||||
chrX:18481527
|
A | ATT | 28 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.-162-25393_-162-25 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481527 | |||||
chrX:18481527
|
A | ATTT | 3 | a0001c0001t0004g0186a0001c0001t0037g0155a0004c0003t0036g0008 | 3 | HG03209.hp1 NA18974.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.-162-25394_-162-25 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481527 | |||||
chrX:18481527
|
A | ATTTT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-25395_-162-25 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18481527 | |||||
chrX:18481719
|
G | T | 2 | a0001c0001t0006g0154a0001c0001t0057g0153 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-162-25216G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481719 | ||||||
chrX:18481819
|
G | C | 38 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(35): Show | 38 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.-162-25116G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18481819 | ||||||
chrX:18482549
|
ATGAAACT others(2): Show |
A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-24384_-162-24 others(15): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18482549 | |||||
chrX:18482560
|
T | A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-24375T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18482560 | ||||||
chrX:18482677
|
G | GT | 7 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.-162-24243dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18482677 | |||||
chrX:18482706
|
A | G | 1 | a0001c0001t0017g0145 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-162-24229A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18482706 | ||||||
chrX:18482841
|
T | G | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.-162-24094T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18482841 | ||||||
chrX:18483252
|
T | C | 37 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(34): Show | 37 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(34): Show |
intron_variant | MODIFIER | c.-162-23683T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483252 | ||||||
chrX:18483424
|
C | CT | 1 | a0001c0001t0001g0081 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-162-23500dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18483424 | |||||
chrX:18483424
|
CT | C | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-162-23500delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18483424 | |||||
chrX:18483477
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-23458G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483477 | ||||||
chrX:18483611
|
G | A | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162-23324G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483611 | ||||||
chrX:18483812
|
T | A | 1 | a0001c0001t0031g0032 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-162-23123T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483812 | ||||||
chrX:18483995
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-162-22937dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18483995 | |||||
chrX:18484000
|
C | A | 2 | a0001c0001t0018g0041a0001c0001t0018g0042 | 2 | HG02109.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.-162-22935C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484000 | ||||||
chrX:18484219
|
G | A | 1 | a0001c0001t0003g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-162-22716G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484219 | ||||||
chrX:18484328
|
T | G | 1 | a0001c0001t0001g0050 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-162-22607T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484328 | ||||||
chrX:18484328
|
T | TG | 28 | a0001c0001t0002g0169a0001c0001t0004g0165a0001c0001t0004g0166others(25): Show | 28 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.-162-22598dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18484328 | |||||
chrX:18484328
|
T | TTG | 1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-162-22607_-162-22 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484328 | ||||||
chrX:18484331
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-22604G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484331 | ||||||
chrX:18484345
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-162-22590C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484345 | ||||||
chrX:18484444
|
A | C | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-162-22491A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484444 | ||||||
chrX:18484792
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-22143C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484792 | ||||||
chrX:18485098
|
C | CT | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-21825dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18485098 | |||||
chrX:18485098
|
CT | C | 1 | a0001c0001t0002g0039 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-162-21825delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18485098 | |||||
chrX:18485114
|
A | G | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-162-21821A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18485114 | ||||||
chrX:18485203
|
A | G | 1 | a0001c0001t0004g0165 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-162-21732A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18485203 | ||||||
chrX:18485897
|
T | A | 189 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(186): Show | 189 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(186): Show |
intron_variant | MODIFIER | c.-162-21038T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18485897 | ||||||
chrX:18485975
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-20960C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18485975 | ||||||
chrX:18486091
|
C | T | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-20844C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18486091 | ||||||
chrX:18486158
|
A | AT | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-162-20769dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18486158 | |||||
chrX:18486308
|
C | CT | 2 | a0001c0001t0003g0109a0001c0001t0037g0155 | 2 | HG03209.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.-162-20619dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18486308 | |||||
chrX:18486694
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-20241A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18486694 | ||||||
chrX:18486768
|
CTT | C | 1 | a0001c0001t0003g0100 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-162-20164_-162-20 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18486768 | |||||
chrX:18486936
|
A | C | 3 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0115 | 3 | HG02015.hp1 HG03492.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-162-19999A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18486936 | ||||||
chrX:18486953
|
TA | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-19969delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18486953 | |||||
chrX:18487035
|
A | G | 3 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0115 | 3 | HG02015.hp1 HG03492.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-162-19900A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18487035 | ||||||
chrX:18487075
|
T | C | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-162-19860T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18487075 | ||||||
chrX:18488157
|
G | A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-18778G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488157 | ||||||
chrX:18488323
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-18612A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488323 | ||||||
chrX:18488577
|
G | A | 1 | a0001c0001t0002g0035 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.-162-18358G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488577 | ||||||
chrX:18488723
|
G | A | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-162-18212G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488723 | ||||||
chrX:18488761
|
G | C | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-18174G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488761 | ||||||
chrX:18488925
|
G | A | 2 | a0001c0001t0002g0156a0001c0001t0002g0157 | 2 | NA18612.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.-162-18010G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18488925 | ||||||
chrX:18489194
|
CT | C | 2 | a0001c0001t0038g0131a0001c0006t0002g0007 | 2 | HG02738.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.-162-17740delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489194 | ||||||
chrX:18489205
|
G | A | 1 | a0001c0001t0003g0020 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-162-17730G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489205 | ||||||
chrX:18489377
|
T | TC | 1 | a0001c0001t0005g0073 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-162-17557dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18489377 | |||||
chrX:18489745
|
A | G | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-162-17190A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489745 | ||||||
chrX:18489776
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-17159G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489776 | ||||||
chrX:18489890
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-17045C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489890 | ||||||
chrX:18490006
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-16929G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18490006 | ||||||
chrX:18490101
|
C | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-16834C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18490101 | ||||||
chrX:18490274
|
C | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-16661C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18490274 | ||||||
chrX:18490344
|
C | T | 2 | a0001c0001t0038g0131a0001c0006t0002g0007 | 2 | HG02738.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.-162-16591C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18490344 | ||||||
chrX:18490569
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-162-16366C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18490569 | ||||||
chrX:18491182
|
G | A | 4 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-15753G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491182 | ||||||
chrX:18491309
|
G | A | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-162-15626G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491309 | ||||||
chrX:18491420
|
G | C | 1 | a0001c0001t0008g0120 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-162-15515G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491420 | ||||||
chrX:18491451
|
C | T | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-162-15484C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491451 | ||||||
chrX:18491635
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-162-15300C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491635 | ||||||
chrX:18491712
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-15223G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491712 | ||||||
chrX:18491927
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-15008T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18491927 | ||||||
chrX:18492065
|
T | G | 15 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(12): Show | 15 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-162-14870T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18492065 | ||||||
chrX:18492367
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-14568T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18492367 | ||||||
chrX:18492651
|
G | A | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.-162-14284G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18492651 | ||||||
chrX:18493254
|
TG | T | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-162-13680delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493254 | ||||||
chrX:18493310
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-13625C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493310 | ||||||
chrX:18493320
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-13615T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493320 | ||||||
chrX:18493476
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-13459T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493476 | ||||||
chrX:18493691
|
T | C | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-162-13244T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493691 | ||||||
chrX:18493845
|
AGATGTCT | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-13089_-162-13 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493845 | ||||||
chrX:18494516
|
C | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.-162-12419C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18494516 | ||||||
chrX:18495076
|
T | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-11859T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18495076 | ||||||
chrX:18495234
|
A | G | 1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-162-11701A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18495234 | ||||||
chrX:18495622
|
C | G | 7 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(4): Show | 7 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.-162-11313C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18495622 | ||||||
chrX:18495737
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-11198C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18495737 | ||||||
chrX:18496112
|
T | TA | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-10820dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18496112 | |||||
chrX:18496153
|
G | A | 1 | a0001c0001t0005g0108 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-162-10782G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18496153 | ||||||
chrX:18496574
|
T | TA | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-10360dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18496574 | |||||
chrX:18496976
|
G | C | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-162-9959G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18496976 | ||||||
chrX:18496991
|
A | AT | 1 | a0001c0001t0001g0059 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-162-9931dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18496991 | |||||
chrX:18496991
|
AT | A | 1 | a0001c0001t0027g0167 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-162-9931delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18496991 | |||||
chrX:18497098
|
T | G | 1 | a0001c0001t0001g0136 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.-162-9837T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497098 | ||||||
chrX:18497354
|
A | G | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-162-9581A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497354 | ||||||
chrX:18497453
|
T | C | 1 | a0001c0001t0025g0030 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-162-9482T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497453 | ||||||
chrX:18497533
|
G | C | 1 | a0001c0001t0002g0035 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.-162-9402G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497533 | ||||||
chrX:18497646
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-9289A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497646 | ||||||
chrX:18497882
|
A | G | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-162-9053A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497882 | ||||||
chrX:18497961
|
G | A | 2 | a0001c0001t0002g0031a0001c0001t0025g0030 | 2 | NA18965.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.-162-8974G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18497961 | ||||||
chrX:18497976
|
GC | G | 1 | a0001c0001t0017g0123 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-162-8956delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18497976 | |||||
chrX:18497987
|
T | TA | 5 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(2): Show | 5 | HG01109.hp1 HG02109.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162-8931dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18497987 | |||||
chrX:18497987
|
TA | T | 13 | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0001g0130others(10): Show | 13 | HG00642.hp1 HG01099.hp1 HG01256.hp1 others(10): Show |
intron_variant | MODIFIER | c.-162-8931delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18497987 | |||||
chrX:18498091
|
AAGT | A | 1 | a0001c0001t0017g0123 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-162-8843_-162-884 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498091 | ||||||
chrX:18498114
|
A | G | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-162-8821A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498114 | ||||||
chrX:18498558
|
A | G | 3 | a0001c0001t0002g0141a0001c0001t0002g0142a0001c0001t0027g0167 | 3 | HG02165.hp2 NA18959.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.-162-8377A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498558 | ||||||
chrX:18498635
|
A | G | 3 | a0001c0001t0002g0141a0001c0001t0002g0142a0001c0001t0027g0167 | 3 | HG02165.hp2 NA18959.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.-162-8300A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498635 | ||||||
chrX:18498659
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-8276T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498659 | ||||||
chrX:18498891
|
T | A | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-162-8044T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498891 | ||||||
chrX:18498914
|
C | T | 1 | a0001c0001t0004g0185 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-162-8021C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18498914 | ||||||
chrX:18499183
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-7752G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499183 | ||||||
chrX:18499361
|
G | GT | 5 | a0001c0001t0010g0173a0001c0001t0017g0123a0001c0001t0037g0155others(2): Show | 5 | HG01934.hp1 HG03209.hp1 NA18953.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162-7557dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18499361 | |||||
chrX:18499361
|
G | GTT | 1 | a0001c0001t0002g0034 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-162-7558_-162-755 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18499361 | |||||
chrX:18499362
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-7573T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499362 | ||||||
chrX:18499381
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-7554G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499381 | ||||||
chrX:18499399
|
C | T | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-162-7536C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499399 | ||||||
chrX:18499437
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-7498T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499437 | ||||||
chrX:18499543
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-7392T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499543 | ||||||
chrX:18499781
|
C | G | 1 | a0001c0001t0001g0081 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-162-7154C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18499781 | ||||||
chrX:18500015
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-6920C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18500015 | ||||||
chrX:18500091
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-6844T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18500091 | ||||||
chrX:18500847
|
T | A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-6088T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18500847 | ||||||
chrX:18501221
|
T | G | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.-162-5714T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501221 | ||||||
chrX:18501326
|
A | G | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-162-5609A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501326 | ||||||
chrX:18501393
|
C | T | 1 | a0001c0002t0032g0003 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-162-5542C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501393 | ||||||
chrX:18501540
|
A | T | 3 | a0001c0001t0037g0155a0001c0001t0056g0144a0001c0001t0061g0005 | 3 | HG01884.hp2 HG03209.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-162-5395A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501540 | ||||||
chrX:18501541
|
A | T | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-162-5394A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501541 | ||||||
chrX:18501542
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-5393A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501542 | ||||||
chrX:18501543
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-5392A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501543 | ||||||
chrX:18501588
|
G | A | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-162-5347G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501588 | ||||||
chrX:18501658
|
C | T | 57 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0046others(54): Show | 57 | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(54): Show |
intron_variant | MODIFIER | c.-162-5277C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501658 | ||||||
chrX:18501731
|
T | C | 1 | a0001c0001t0014g0103 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-162-5204T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501731 | ||||||
chrX:18501777
|
G | C | 2 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | NA18941.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.-162-5158G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501777 | ||||||
chrX:18501855
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-5080G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18501855 | ||||||
chrX:18502172
|
T | C | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-162-4763T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502172 | ||||||
chrX:18502184
|
A | G | 1 | a0001c0001t0002g0034 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-162-4751A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502184 | ||||||
chrX:18502199
|
C | T | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-162-4736C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502199 | ||||||
chrX:18502258
|
T | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-4677T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502258 | ||||||
chrX:18502482
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-4453T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502482 | ||||||
chrX:18502729
|
A | G | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-162-4206A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18502729 | ||||||
chrX:18503016
|
G | A | 1 | a0001c0001t0008g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-162-3919G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18503016 | ||||||
chrX:18503811
|
G | A | 1 | a0001c0001t0002g0023 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-162-3124G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18503811 | ||||||
chrX:18503895
|
A | G | 1 | a0001c0001t0001g0137 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-162-3040A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18503895 | ||||||
chrX:18503932
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-3003A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18503932 | ||||||
chrX:18504041
|
A | G | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-2894A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504041 | ||||||
chrX:18504166
|
C | T | 1 | a0001c0001t0005g0108 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-162-2769C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504166 | ||||||
chrX:18504432
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-2503A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504432 | ||||||
chrX:18504555
|
C | A | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-2380C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504555 | ||||||
chrX:18504726
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-2209G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504726 | ||||||
chrX:18504728
|
G | A | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-162-2207G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504728 | ||||||
chrX:18504849
|
T | C | 161 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(158): Show | 161 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(158): Show |
intron_variant | MODIFIER | c.-162-2086T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504849 | ||||||
chrX:18504932
|
C | CA | 5 | a0001c0001t0001g0057a0001c0001t0002g0139a0001c0001t0034g0015others(2): Show | 5 | HG01934.hp1 HG02723.hp1 NA18953.hp1 others(2): Show |
intron_variant | MODIFIER | c.-162-1986dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18504932 | |||||
chrX:18504932
|
CA | C | 5 | a0001c0001t0005g0098a0001c0001t0014g0012a0001c0001t0024g0095others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-162-1986delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18504932 | |||||
chrX:18504970
|
G | C | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-162-1965G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18504970 | ||||||
chrX:18505250
|
G | A | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-162-1685G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18505250 | ||||||
chrX:18505253
|
G | GT | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-1679dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18505253 | |||||
chrX:18505364
|
C | T | 2 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | NA18941.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.-162-1571C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18505364 | ||||||
chrX:18505842
|
G | T | 1 | a0001c0001t0034g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-162-1093G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18505842 | ||||||
chrX:18505849
|
TC | T | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-1084delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18505849 | |||||
chrX:18506007
|
T | TC | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-923dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18506007 | |||||
chrX:18506145
|
T | TC | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-788dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18506145 | |||||
chrX:18506466
|
C | CT | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-464dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18506466 | |||||
chrX:18506497
|
A | C | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-162-438A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18506497 | ||||||
chrX:18506559
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-162-376C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18506559 | ||||||
chrX:18506584
|
T | TC | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-351_-162-350i others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18506584 | ||||||
chrX:18506766
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-169T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18506766 | ||||||
chrX:18506889
|
T | TGCAAATA others(11): Show |
1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.-162-43_-162-26dup others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18506889 | |||||
chrX:18507204
|
A | T | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.64+44A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18507204 | ||||||
chrX:18507446
|
C | CT | 9 | a0001c0001t0002g0010a0001c0001t0004g0165a0001c0001t0012g0001others(6): Show | 9 | HG01070.hp1 HG02074.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.64+305dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
C | CTTTT | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.64+302_64+305dupTT others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
C | CTTTTTT | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.64+300_64+305dupTT others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
C | CTTTTTTT | 1 | a0001c0001t0034g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.64+299_64+305dupTT others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
CT | C | 7 | a0001c0001t0002g0036a0001c0001t0002g0039a0001c0001t0002g0119others(4): Show | 7 | HG00140.hp1 HG01167.hp1 NA18974.hp1 others(4): Show |
intron_variant | MODIFIER | c.64+305delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
CTT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.64+304_64+305delTT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507446
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0048g0124 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.64+294_64+305delTT others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507446 | |||||
chrX:18507552
|
T | TTTCA | 10 | a0001c0001t0001g0072a0001c0001t0002g0146a0001c0001t0002g0189others(7): Show | 10 | HG01884.hp1 HG02132.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.64+429_64+432dupTT others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507552 | |||||
chrX:18507552
|
TTTCA | T | 31 | a0001c0001t0001g0029a0001c0001t0001g0115a0001c0001t0001g0164others(28): Show | 31 | HG00544.hp2 HG00609.hp1 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.64+429_64+432delTT others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507552 | |||||
chrX:18507552
|
TTTCATTC others(5): Show |
T | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.64+421_64+432delTT others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18507552 | |||||
chrX:18508336
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.64+1176G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18508336 | ||||||
chrX:18508681
|
T | TTA | 9 | a0001c0001t0001g0067a0001c0001t0002g0156a0001c0001t0002g0157others(6): Show | 9 | HG00738.hp1 HG01884.hp2 HG02293.hp1 others(6): Show |
intron_variant | MODIFIER | c.64+1539_64+1540dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18508681 | |||||
chrX:18508740
|
A | G | 1 | a0001c0001t0001g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.64+1580A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18508740 | ||||||
chrX:18508823
|
C | T | 1 | a0001c0001t0001g0115 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.64+1663C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18508823 | ||||||
chrX:18508970
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.64+1810G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18508970 | ||||||
chrX:18509091
|
A | AAC | 17 | a0001c0001t0001g0136a0001c0001t0002g0146a0001c0001t0002g0158others(14): Show | 17 | HG00140.hp1 HG00544.hp1 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.65-1693_65-1692dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
A | AACAC | 4 | a0001c0001t0001g0113a0001c0001t0001g0115a0001c0001t0016g0117others(1): Show | 4 | HG03209.hp1 HG03654.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.65-1695_65-1692dup others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
A | AACACAC | 1 | a0001c0001t0046g0047 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.65-1697_65-1692dup others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
A | AACACACA others(1): Show |
1 | a0001c0001t0001g0137 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.65-1699_65-1692dup others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
AAC | A | 8 | a0001c0001t0001g0081a0001c0001t0001g0090a0001c0001t0002g0160others(5): Show | 8 | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.65-1693_65-1692del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
AACAC | A | 6 | a0001c0001t0002g0023a0001c0001t0002g0034a0001c0001t0002g0169others(3): Show | 6 | HG00609.hp1 HG02630.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.65-1695_65-1692del others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509091
|
AACACAC | A | 2 | a0001c0001t0001g0025a0001c0001t0014g0091 | 2 | HG02015.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.65-1697_65-1692del others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509091 | |||||
chrX:18509164
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.65-1656G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509164 | ||||||
chrX:18509192
|
A | AAC | 1 | a0001c0001t0017g0145 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.65-1625_65-1624dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509192 | |||||
chrX:18509192
|
A | AACAC | 1 | a0001c0001t0017g0123 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.65-1627_65-1624dup others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509192 | |||||
chrX:18509192
|
A | AACGCACA others(5): Show |
1 | a0001c0001t0046g0047 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.65-1626_65-1625ins others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509192 | |||||
chrX:18509197
|
G | A | 3 | a0001c0001t0017g0123a0001c0001t0017g0145a0001c0001t0046g0047 | 3 | HG04204.hp1 NA19058.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.65-1623G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509197 | ||||||
chrX:18509197
|
G | GCA | 9 | a0001c0001t0001g0084a0001c0001t0001g0104a0001c0001t0002g0035others(6): Show | 9 | HG00140.hp1 HG00738.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.65-1575_65-1574dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACA | 17 | a0001c0001t0001g0025a0001c0001t0001g0060a0001c0001t0001g0081others(14): Show | 17 | HG01106.hp1 HG01192.hp1 HG01515.hp1 others(14): Show |
intron_variant | MODIFIER | c.65-1577_65-1574dup others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACACA | 14 | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0002g0036others(11): Show | 14 | HG01069.hp1 HG01071.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.65-1579_65-1574dup others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACACAC others(1): Show |
5 | a0001c0001t0002g0034a0001c0001t0003g0026a0001c0001t0003g0070others(2): Show | 5 | HG00609.hp1 HG02258.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.65-1581_65-1574dup others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACACAC others(3): Show |
2 | a0001c0001t0023g0021a0001c0001t0025g0030 | 2 | HG02717.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.65-1583_65-1574dup others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACACAC others(5): Show |
5 | a0001c0001t0001g0113a0001c0001t0002g0023a0001c0001t0002g0031others(2): Show | 5 | NA18747.hp1 NA18982.hp1 NA19077.hp1 others(2): Show |
intron_variant | MODIFIER | c.65-1585_65-1574dup others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACACAC others(7): Show |
2 | a0001c0001t0001g0094a0001c0001t0001g0140 | 2 | HG01243.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.65-1587_65-1574dup others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCAC others(3): Show |
1 | a0001c0001t0041g0138 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCAC others(9): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(11): Show |
1 | a0001c0001t0010g0170 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(13): Show |
1 | a0001c0001t0015g0187 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(15): Show |
1 | a0001c0001t0010g0172 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(17): Show |
1 | a0001c0001t0027g0167 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(19): Show |
1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(7): Show |
1 | a0001c0001t0004g0165 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(11): Show |
1 | a0001c0001t0004g0186 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(15): Show |
1 | a0001c0001t0004g0177 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(23): Show |
1 | a0001c0001t0004g0171 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(15): Show |
2 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | NA18941.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.65-1620_65-1619ins others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(17): Show |
1 | a0001c0001t0004g0183 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(25): Show |
1 | a0001c0001t0031g0032 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(32): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(29): Show |
1 | a0001c0001t0029g0181 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(36): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(41): Show |
1 | a0001c0001t0011g0180 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(48): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(49): Show |
1 | a0001c0001t0011g0179 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(56): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(21): Show |
1 | a0001c0001t0004g0184 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(28): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(29): Show |
1 | a0001c0001t0004g0176 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(36): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(33): Show |
1 | a0001c0001t0015g0188 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(40): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(41): Show |
1 | a0001c0001t0063g0006 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(48): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(47): Show |
1 | a0001c0001t0011g0085 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(54): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(19): Show |
1 | a0001c0001t0004g0182 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCACGCGC others(37): Show |
1 | a0001c0001t0028g0175 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(44): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
G | GCGCACA | 1 | a0001c0001t0014g0103 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.65-1622_65-1621ins others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCA | G | 17 | a0001c0001t0001g0046a0001c0001t0001g0057a0001c0001t0001g0059others(14): Show | 17 | HG00280.hp1 HG01074.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.65-1575_65-1574del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCACA | G | 20 | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0001g0067others(17): Show | 20 | HG00597.hp1 HG01070.hp2 HG01071.hp2 others(17): Show |
intron_variant | MODIFIER | c.65-1577_65-1574del others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCACACA | G | 6 | a0001c0001t0001g0089a0001c0001t0001g0115a0001c0001t0008g0097others(3): Show | 6 | HG00544.hp1 HG02055.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.65-1579_65-1574del others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCACACAC others(1): Show |
G | 2 | a0001c0002t0012g0004a0001c0002t0032g0003 | 2 | HG01070.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.65-1581_65-1574del others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCACACAC others(5): Show |
G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.65-1585_65-1574del others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509197
|
GCACACAC others(7): Show |
G | 1 | a0001c0001t0003g0020 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.65-1587_65-1574del others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509197 | |||||
chrX:18509199
|
A | ACACACG | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.65-1616_65-1615ins others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | ACG | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.65-1620_65-1619ins others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | ACGCGCG | 3 | a0001c0001t0022g0064a0001c0001t0022g0065a0001c0001t0023g0040 | 3 | HG02451.hp1 HG02451.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.65-1620_65-1619ins others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | ACGCGCGC others(1): Show |
1 | a0001c0001t0004g0185 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | ACGCGCGC others(3): Show |
1 | a0001c0001t0010g0173 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | ACGCGCGC others(9): Show |
1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.65-1620_65-1619ins others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509199 | |||||
chrX:18509199
|
A | G | 2 | a0001c0001t0001g0090a0001c0001t0002g0049 | 2 | HG02647.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.65-1621A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509199 | ||||||
chrX:18509201
|
A | ACACG | 1 | a0001c0001t0034g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.65-1616_65-1615ins others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509201 | |||||
chrX:18509201
|
A | G | 9 | a0001c0001t0001g0093a0001c0001t0001g0143a0001c0001t0004g0185others(6): Show | 9 | HG00673.hp1 HG01257.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.65-1619A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509201 | ||||||
chrX:18509203
|
A | G | 3 | a0001c0001t0004g0191a0001c0001t0004g0192a0001c0001t0033g0168 | 3 | HG00673.hp1 HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.65-1617A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509203 | ||||||
chrX:18509205
|
A | G | 3 | a0001c0001t0001g0089a0001c0001t0004g0191a0001c0001t0004g0192 | 3 | HG01257.hp2 HG01258.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.65-1615A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509205 | ||||||
chrX:18509241
|
ACACAC | A | 1 | a0001c0001t0016g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.65-1577_65-1573del others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509241 | |||||
chrX:18509243
|
A | AC | 1 | a0001c0001t0062g0051 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.65-1576dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509243 | |||||
chrX:18509243
|
A | ACC | 1 | a0001c0001t0005g0108 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.65-1576_65-1575ins others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509243 | |||||
chrX:18509243
|
A | C | 6 | a0001c0001t0003g0066a0001c0001t0003g0125a0001c0001t0005g0098others(3): Show | 6 | HG01978.hp2 HG02135.hp1 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.65-1577A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509243 | ||||||
chrX:18509243
|
ACAC | A | 1 | a0001c0001t0009g0132 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.65-1575_65-1573del others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509243 | |||||
chrX:18509245
|
A | ACAC | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.65-1574_65-1573ins others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509245
|
A | ACACACAC others(5): Show |
1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.65-1574_65-1573ins others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509245
|
A | ACACACC | 2 | a0001c0001t0005g0099a0001c0001t0008g0054 | 2 | HG01943.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.65-1574_65-1573ins others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509245
|
A | ACACC | 3 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0008g0118 | 3 | HG00621.hp1 NA19070.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.65-1574_65-1573ins others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509245
|
A | ACC | 7 | a0001c0001t0005g0052a0001c0001t0005g0053a0001c0001t0006g0149others(4): Show | 7 | HG01109.hp1 HG01928.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.65-1572_65-1571dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509245
|
A | C | 23 | a0001c0001t0001g0046a0001c0001t0001g0057a0001c0001t0001g0059others(20): Show | 23 | HG00544.hp1 HG00642.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.65-1575A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509245 | ||||||
chrX:18509245
|
AC | A | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.65-1571delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18509245 | |||||
chrX:18509246
|
C | CA | 1 | a0001c0001t0004g0182 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.65-1574_65-1573ins others(1): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509246 | ||||||
chrX:18509246
|
C | CACA | 1 | a0001c0001t0001g0090 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.65-1574_65-1573ins others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509246 | ||||||
chrX:18509246
|
C | CACACA | 2 | a0001c0001t0003g0055a0001c0001t0005g0106 | 2 | HG02083.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.65-1574_65-1573ins others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509246 | ||||||
chrX:18509246
|
C | CACACACA | 1 | a0001c0001t0007g0019 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.65-1574_65-1573ins others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509246 | ||||||
chrX:18509246
|
C | T | 1 | a0001c0001t0031g0032 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.65-1574C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509246 | ||||||
chrX:18509465
|
G | C | 1 | a0001c0001t0002g0157 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.65-1355G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509465 | ||||||
chrX:18509476
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.65-1344C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18509476 | ||||||
chrX:18510018
|
G | GA | 7 | a0001c0001t0014g0103a0001c0001t0022g0065a0001c0001t0023g0021others(4): Show | 7 | HG01099.hp1 HG02451.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.65-787dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18510018 | |||||
chrX:18510018
|
GA | G | 3 | a0001c0001t0005g0075a0001c0001t0005g0076a0001c0002t0032g0003 | 3 | HG01515.hp1 HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.65-787delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18510018 | |||||
chrX:18510018
|
GAA | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.65-788_65-787delAA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | 18510018 | |||||
chrX:18510105
|
G | C | 1 | a0001c0001t0001g0136 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.65-715G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18510105 | ||||||
chrX:18510257
|
C | T | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.65-563C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18510257 | ||||||
chrX:18510259
|
A | G | 2 | a0001c0001t0005g0073a0001c0001t0007g0014 | 2 | HG03017.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.65-561A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18510259 | ||||||
chrX:18510434
|
C | T | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.65-386C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | chrX | 18510434 | ||||||
chrX:18510936
|
A | G | 1 | a0001c0001t0008g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.99+82A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18510936 | ||||||
chrX:18511167
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+313G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18511167 | ||||||
chrX:18511520
|
A | G | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.99+666A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18511520 | ||||||
chrX:18511564
|
G | A | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+710G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18511564 | ||||||
chrX:18511573
|
G | T | 2 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | HG01256.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.99+719G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18511573 | ||||||
chrX:18512162
|
C | T | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.99+1308C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512162 | ||||||
chrX:18512343
|
G | A | 154 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(151): Show | 154 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(151): Show |
intron_variant | MODIFIER | c.99+1489G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512343 | ||||||
chrX:18512416
|
A | G | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.99+1562A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512416 | ||||||
chrX:18512468
|
G | A | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.99+1614G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512468 | ||||||
chrX:18512889
|
T | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+2035T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512889 | ||||||
chrX:18512903
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+2049A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18512903 | ||||||
chrX:18513088
|
G | A | 1 | a0001c0001t0002g0146 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.99+2234G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18513088 | ||||||
chrX:18513489
|
T | TA | 1 | a0001c0001t0019g0028 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.99+2645dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18513489 | |||||
chrX:18513489
|
TA | T | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.99+2645delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18513489 | |||||
chrX:18513896
|
G | A | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.99+3042G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18513896 | ||||||
chrX:18514144
|
T | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+3290T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18514144 | ||||||
chrX:18514633
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+3779G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18514633 | ||||||
chrX:18514707
|
C | CA | 1 | a0001c0001t0004g0186 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.99+3870dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18514707 | |||||
chrX:18514707
|
CA | C | 2 | a0001c0001t0045g0082a0002c0005t0002g0114 | 2 | HG01167.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.99+3870delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18514707 | |||||
chrX:18514719
|
A | AAAAAAGA others(21): Show |
1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+3866_99+3893dup others(28): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18514719 | |||||
chrX:18514810
|
G | GT | 4 | a0001c0001t0004g0185a0001c0001t0005g0052a0001c0001t0010g0170others(1): Show | 4 | HG02738.hp1 NA18988.hp1 NA19012.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+3964dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18514810 | |||||
chrX:18514920
|
TC | T | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.99+4069delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18514920 | |||||
chrX:18514923
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.99+4069C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18514923 | ||||||
chrX:18515000
|
C | T | 2 | a0001c0001t0017g0123a0001c0001t0017g0145 | 2 | NA19058.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.99+4146C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18515000 | ||||||
chrX:18515579
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+4725A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18515579 | ||||||
chrX:18515749
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+4895T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18515749 | ||||||
chrX:18515845
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+4991G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18515845 | ||||||
chrX:18515937
|
C | CCTTCT | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+5097_99+5101dup others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18515937 | |||||
chrX:18516000
|
T | TTC | 30 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.99+5163_99+5164dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18516000 | |||||
chrX:18516284
|
G | GT | 38 | a0001c0001t0001g0072a0001c0001t0001g0088a0001c0001t0001g0140others(35): Show | 38 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.99+5447dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18516284 | |||||
chrX:18516284
|
G | GTT | 2 | a0001c0001t0003g0026a0001c0001t0004g0185 | 2 | HG02258.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.99+5446_99+5447dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18516284 | |||||
chrX:18516284
|
GT | G | 3 | a0001c0001t0034g0015a0001c0001t0035g0148a0003c0004t0026g0079 | 3 | HG02723.hp1 HG02922.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.99+5447delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18516284 | |||||
chrX:18516303
|
T | A | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.99+5449T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18516303 | ||||||
chrX:18516822
|
C | T | 23 | a0001c0001t0004g0165a0001c0001t0004g0171a0001c0001t0004g0176others(20): Show | 23 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(20): Show |
intron_variant | MODIFIER | c.99+5968C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18516822 | ||||||
chrX:18516986
|
C | G | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.99+6132C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18516986 | ||||||
chrX:18517253
|
T | TC | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.99+6403dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517253 | |||||
chrX:18517560
|
AT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6709delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517560 | |||||
chrX:18517596
|
A | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6742A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517596 | ||||||
chrX:18517597
|
C | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6743C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517597 | ||||||
chrX:18517608
|
A | ATT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6754_99+6755ins others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517608 | ||||||
chrX:18517609
|
A | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6755A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517609 | ||||||
chrX:18517611
|
A | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6757A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517611 | ||||||
chrX:18517614
|
AGT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6764_99+6765del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517614 | |||||
chrX:18517628
|
TTC | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6775_99+6776del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517628 | ||||||
chrX:18517637
|
CAGGCCTG others(7): Show |
C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6784_99+6797del others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517637 | ||||||
chrX:18517658
|
CTGA | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6808_99+6810del others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517658 | |||||
chrX:18517676
|
T | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6822T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517676 | ||||||
chrX:18517677
|
A | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6823A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517677 | ||||||
chrX:18517678
|
T | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6824T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517678 | ||||||
chrX:18517689
|
CT | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6837delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517689 | |||||
chrX:18517728
|
ACT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6875_99+6876del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517728 | ||||||
chrX:18517735
|
CA | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6884delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517735 | |||||
chrX:18517751
|
TC | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6900delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517751 | |||||
chrX:18517756
|
G | GTTGATTC others(1): Show |
1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6902_99+6903ins others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517756 | ||||||
chrX:18517760
|
TTTG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6907_99+6909del others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517760 | ||||||
chrX:18517768
|
GC | G | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6916delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517768 | |||||
chrX:18517776
|
AG | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6924delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517776 | |||||
chrX:18517788
|
TGA | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6936_99+6937del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517788 | |||||
chrX:18517791
|
G | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6937G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517791 | ||||||
chrX:18517799
|
A | AG | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6946dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517799 | |||||
chrX:18517845
|
AAAAT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6993_99+6996del others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517845 | |||||
chrX:18517873
|
TG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+7021delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517873 | |||||
chrX:18517876
|
C | T | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.99+7022C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517876 | ||||||
chrX:18517929
|
CG | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+7078delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18517929 | |||||
chrX:18517953
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+7099G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517953 | ||||||
chrX:18518141
|
T | A | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.99+7287T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518141 | ||||||
chrX:18518159
|
T | G | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.99+7305T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518159 | ||||||
chrX:18518285
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+7431C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518285 | ||||||
chrX:18518323
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+7469T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518323 | ||||||
chrX:18518370
|
GTTTTC | G | 5 | a0001c0001t0004g0183a0001c0001t0004g0184a0001c0001t0015g0188others(2): Show | 5 | HG02165.hp1 HG04184.hp2 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.99+7529_99+7533del others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518370 | |||||
chrX:18518380
|
CTTTTCTT others(10): Show |
C | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.99+7531_99+7547del others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518380 | |||||
chrX:18518381
|
TTTTCTTA | T | 10 | a0001c0001t0004g0166a0001c0001t0004g0171a0001c0001t0004g0176others(7): Show | 10 | HG00544.hp2 HG02523.hp1 NA18941.hp2 others(7): Show |
intron_variant | MODIFIER | c.99+7531_99+7537del others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518381 | |||||
chrX:18518382
|
TTTC | T | 3 | a0001c0001t0011g0179a0001c0001t0011g0180a0001c0001t0028g0175 | 3 | HG01255.hp1 NA19002.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.99+7531_99+7533del others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518382 | |||||
chrX:18518382
|
TTTCTTA | T | 5 | a0001c0001t0004g0165a0001c0001t0004g0185a0001c0001t0010g0173others(2): Show | 5 | HG00673.hp1 HG02074.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.99+7531_99+7536del others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518382 | |||||
chrX:18518383
|
T | A | 3 | a0001c0001t0004g0182a0001c0001t0011g0085a0001c0001t0063g0006 | 3 | HG00597.hp2 NA19007.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.99+7529T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518383 | ||||||
chrX:18518384
|
TCTTA | T | 3 | a0001c0001t0004g0182a0001c0001t0011g0085a0001c0001t0063g0006 | 3 | HG00597.hp2 NA19007.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.99+7531_99+7534del others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518384 | ||||||
chrX:18518385
|
C | CT | 2 | a0001c0001t0022g0064a0001c0001t0023g0021 | 2 | HG02717.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.99+7533dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518385 | |||||
chrX:18518385
|
C | CTT | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.99+7532_99+7533dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518385 | |||||
chrX:18518385
|
C | CTTTTT | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.99+7533_99+7534ins others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518385 | |||||
chrX:18518385
|
C | CTTTTTTT others(1): Show |
1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.99+7533_99+7534ins others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518385 | |||||
chrX:18518385
|
CTTATTTT | C | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.99+7534_99+7540del others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518385 | |||||
chrX:18518386
|
T | A | 3 | a0001c0001t0011g0179a0001c0001t0011g0180a0001c0001t0028g0175 | 3 | HG01255.hp1 NA19002.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.99+7532T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518386 | ||||||
chrX:18518386
|
T | C | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+7532T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518386 | ||||||
chrX:18518388
|
A | AT | 27 | a0001c0001t0001g0044a0001c0001t0001g0115a0001c0001t0001g0122others(24): Show | 27 | HG00609.hp1 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.99+7569dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
A | ATT | 2 | a0001c0001t0008g0054a0001c0001t0008g0120 | 2 | HG00642.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.99+7568_99+7569dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
A | ATTT | 1 | a0001c0001t0003g0061 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.99+7567_99+7569dup others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
A | T | 11 | a0001c0001t0011g0179a0001c0001t0011g0180a0001c0001t0014g0103others(8): Show | 11 | HG01255.hp1 HG01884.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.99+7534A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518388 | ||||||
chrX:18518388
|
AT | A | 43 | a0001c0001t0001g0025a0001c0001t0001g0081a0001c0001t0001g0084others(40): Show | 43 | HG00738.hp1 HG01069.hp1 HG01099.hp1 others(40): Show |
intron_variant | MODIFIER | c.99+7569delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATT | A | 7 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0003g0077others(4): Show | 7 | HG01070.hp1 HG02622.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.99+7568_99+7569del others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTT | A | 3 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0050g0058 | 3 | HG02258.hp1 HG02630.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.99+7567_99+7569del others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTT | A | 1 | a0001c0001t0002g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.99+7565_99+7569del others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(1): Show |
A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+7562_99+7569del others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(6): Show |
A | 1 | a0001c0001t0001g0080 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.99+7557_99+7569del others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(7): Show |
A | 2 | a0001c0001t0001g0059a0001c0001t0012g0001 | 2 | HG02300.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.99+7556_99+7569del others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(8): Show |
A | 2 | a0001c0001t0005g0052a0001c0001t0005g0099 | 2 | HG01943.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.99+7555_99+7569del others(15): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(10): Show |
A | 1 | a0001c0001t0001g0137 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.99+7553_99+7569del others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518388
|
ATTTTTTT others(13): Show |
A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+7550_99+7569del others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518388 | |||||
chrX:18518389
|
T | A | 5 | a0001c0001t0004g0165a0001c0001t0004g0185a0001c0001t0010g0173others(2): Show | 5 | HG00673.hp1 HG02074.hp1 HG03927.hp2 others(2): Show |
intron_variant | MODIFIER | c.99+7535T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518389 | ||||||
chrX:18518390
|
T | A | 10 | a0001c0001t0004g0166a0001c0001t0004g0171a0001c0001t0004g0176others(7): Show | 10 | HG00544.hp2 HG02523.hp1 NA18941.hp2 others(7): Show |
intron_variant | MODIFIER | c.99+7536T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518390 | ||||||
chrX:18518400
|
T | A | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.99+7546T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518400 | ||||||
chrX:18518425
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+7571T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518425 | ||||||
chrX:18518716
|
T | C | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.99+7862T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518716 | ||||||
chrX:18518798
|
CT | C | 7 | a0001c0001t0002g0078a0001c0001t0021g0111a0001c0001t0021g0112others(4): Show | 7 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.99+7956delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18518798 | |||||
chrX:18518920
|
G | A | 1 | a0001c0001t0002g0160 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.99+8066G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518920 | ||||||
chrX:18518995
|
A | G | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.99+8141A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18518995 | ||||||
chrX:18519031
|
A | G | 1 | a0001c0001t0039g0063 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.99+8177A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519031 | ||||||
chrX:18519285
|
A | G | 1 | a0001c0001t0005g0073 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.99+8431A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519285 | ||||||
chrX:18519321
|
T | C | 1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.99+8467T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519321 | ||||||
chrX:18519547
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+8693G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519547 | ||||||
chrX:18519583
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.99+8729C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519583 | ||||||
chrX:18519642
|
A | G | 9 | a0001c0001t0014g0091a0001c0001t0014g0103a0001c0001t0021g0111others(6): Show | 9 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.99+8788A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519642 | ||||||
chrX:18519656
|
C | T | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.99+8802C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519656 | ||||||
chrX:18519858
|
C | T | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.99+9004C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18519858 | ||||||
chrX:18520347
|
C | T | 2 | a0001c0001t0001g0115a0001c0001t0016g0117 | 2 | HG03654.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.99+9493C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18520347 | ||||||
chrX:18520514
|
C | T | 1 | a0001c0002t0032g0003 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.99+9660C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18520514 | ||||||
chrX:18520542
|
T | C | 1 | a0001c0001t0013g0159 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.99+9688T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18520542 | ||||||
chrX:18520791
|
A | G | 1 | a0001c0001t0001g0057 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.99+9937A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18520791 | ||||||
chrX:18521151
|
C | T | 1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.99+10297C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521151 | ||||||
chrX:18521191
|
A | G | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.99+10337A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521191 | ||||||
chrX:18521341
|
A | G | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.99+10487A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521341 | ||||||
chrX:18521390
|
AT | A | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+10542delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18521390 | |||||
chrX:18521459
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+10605C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521459 | ||||||
chrX:18521580
|
G | A | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.99+10726G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521580 | ||||||
chrX:18521581
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+10727C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521581 | ||||||
chrX:18521635
|
G | A | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.99+10781G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521635 | ||||||
chrX:18521754
|
TG | T | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+10902delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18521754 | |||||
chrX:18521903
|
C | T | 1 | a0001c0001t0002g0031 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.99+11049C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521903 | ||||||
chrX:18522072
|
G | GA | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11225dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522072 | |||||
chrX:18522101
|
AT | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+11249delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522101 | |||||
chrX:18522288
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11434C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522288 | ||||||
chrX:18522335
|
C | CT | 14 | a0001c0001t0001g0048a0001c0001t0001g0122a0001c0001t0001g0140others(11): Show | 14 | HG00544.hp1 HG00621.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.99+11508dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522335
|
C | CTT | 2 | a0001c0001t0001g0164a0001c0001t0008g0054 | 2 | HG02293.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.99+11507_99+11508d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522335
|
C | CTTT | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+11506_99+11508d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522335
|
CT | C | 42 | a0001c0001t0001g0025a0001c0001t0001g0088a0001c0001t0003g0083others(39): Show | 42 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.99+11508delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522335
|
CTT | C | 3 | a0001c0001t0004g0184a0001c0001t0022g0065a0001c0001t0023g0040 | 3 | HG02451.hp1 HG02451.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.99+11507_99+11508d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522335
|
CTTT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11506_99+11508d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522335 | |||||
chrX:18522387
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11533C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522387 | ||||||
chrX:18522403
|
G | A | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.99+11549G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522403 | ||||||
chrX:18522546
|
T | C | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+11692T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522546 | ||||||
chrX:18522632
|
A | AC | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+11780dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522632 | |||||
chrX:18522676
|
CT | C | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+11828delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522676 | |||||
chrX:18522738
|
CT | C | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+11889delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522738 | |||||
chrX:18522793
|
A | AT | 12 | a0001c0001t0001g0048a0001c0001t0003g0022a0001c0001t0003g0066others(9): Show | 12 | HG00544.hp1 HG00621.hp1 HG02056.hp1 others(9): Show |
intron_variant | MODIFIER | c.99+11958dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522793 | |||||
chrX:18522793
|
AT | A | 29 | a0001c0001t0002g0107a0001c0001t0004g0165a0001c0001t0004g0166others(26): Show | 29 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.99+11958delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18522793 | |||||
chrX:18522794
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11940T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522794 | ||||||
chrX:18522813
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+11959G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18522813 | ||||||
chrX:18523608
|
C | T | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.99+12754C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18523608 | ||||||
chrX:18523656
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+12802A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18523656 | ||||||
chrX:18523864
|
G | A | 1 | a0001c0006t0002g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.99+13010G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18523864 | ||||||
chrX:18524039
|
C | T | 171 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(168): Show | 171 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(168): Show |
intron_variant | MODIFIER | c.99+13185C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18524039 | ||||||
chrX:18524637
|
C | T | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.99+13783C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18524637 | ||||||
chrX:18524769
|
A | T | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.99+13915A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18524769 | ||||||
chrX:18524781
|
A | G | 6 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(3): Show | 6 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.99+13927A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18524781 | ||||||
chrX:18524902
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+14048A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18524902 | ||||||
chrX:18525047
|
T | C | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.99+14193T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525047 | ||||||
chrX:18525255
|
C | T | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.99+14401C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525255 | ||||||
chrX:18525354
|
C | T | 4 | a0001c0001t0014g0103a0001c0001t0022g0064a0001c0001t0022g0065others(1): Show | 4 | HG02451.hp1 HG02717.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.99+14500C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525354 | ||||||
chrX:18525388
|
C | T | 15 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(12): Show | 15 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.99+14534C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525388 | ||||||
chrX:18525426
|
G | C | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+14572G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525426 | ||||||
chrX:18525519
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+14665A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525519 | ||||||
chrX:18525523
|
T | C | 1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.99+14669T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525523 | ||||||
chrX:18525584
|
T | G | 1 | a0001c0001t0002g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.99+14730T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525584 | ||||||
chrX:18525690
|
G | A | 1 | a0001c0001t0002g0107 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.99+14836G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525690 | ||||||
chrX:18525744
|
C | CT | 4 | a0001c0001t0001g0029a0001c0001t0044g0016a0001c0001t0056g0144others(1): Show | 4 | HG02071.hp1 HG02572.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+14911dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18525744 | |||||
chrX:18525744
|
CT | C | 37 | a0001c0001t0001g0130a0001c0001t0002g0034a0001c0001t0002g0039others(34): Show | 37 | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.99+14911delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18525744 | |||||
chrX:18525744
|
CTT | C | 1 | a0001c0001t0002g0023 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.99+14910_99+14911d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18525744 | |||||
chrX:18525816
|
G | A | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.99+14962G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525816 | ||||||
chrX:18525849
|
C | T | 29 | a0001c0001t0001g0122a0001c0001t0001g0136a0001c0001t0001g0137others(26): Show | 29 | HG00140.hp1 HG00280.hp1 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.99+14995C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525849 | ||||||
chrX:18525871
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+15017C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525871 | ||||||
chrX:18526065
|
A | C | 1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.99+15211A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18526065 | ||||||
chrX:18526589
|
G | A | 1 | a0001c0001t0008g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.99+15735G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18526589 | ||||||
chrX:18526656
|
G | A | 53 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(50): Show | 53 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.99+15802G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18526656 | ||||||
chrX:18526661
|
C | T | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.99+15807C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18526661 | ||||||
chrX:18526787
|
CT | C | 1 | a0001c0001t0004g0177 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.99+15946delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18526787 | |||||
chrX:18527062
|
C | T | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.99+16208C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527062 | ||||||
chrX:18527092
|
C | G | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.99+16238C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527092 | ||||||
chrX:18527241
|
A | T | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.99+16387A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527241 | ||||||
chrX:18527611
|
G | GT | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.99+16766dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18527611 | |||||
chrX:18527764
|
G | C | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.99+16910G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527764 | ||||||
chrX:18527774
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+16920C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527774 | ||||||
chrX:18528137
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+17283T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528137 | ||||||
chrX:18528168
|
AGTATT | A | 1 | a0001c0001t0001g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.99+17315_99+17319d others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528168 | ||||||
chrX:18528236
|
CA | C | 1 | a0001c0002t0032g0003 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.99+17383delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528236 | ||||||
chrX:18528237
|
A | AT | 15 | a0001c0001t0001g0101a0001c0001t0001g0162a0001c0001t0002g0128others(12): Show | 15 | HG00597.hp1 HG01358.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.99+17405dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18528237 | |||||
chrX:18528237
|
A | T | 3 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004 | 3 | HG01070.hp1 HG02293.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.99+17383A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528237 | ||||||
chrX:18528237
|
AT | A | 2 | a0001c0001t0027g0167a0001c0001t0037g0155 | 2 | HG03209.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.99+17405delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18528237 | |||||
chrX:18528290
|
G | A | 1 | a0001c0001t0001g0025 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.99+17436G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528290 | ||||||
chrX:18528502
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.99+17648C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528502 | ||||||
chrX:18528585
|
C | CCT | 2 | a0001c0001t0005g0073a0001c0001t0009g0133 | 2 | HG03017.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.99+17752_99+17753d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18528585 | |||||
chrX:18528701
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+17847A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528701 | ||||||
chrX:18528783
|
A | C | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.99+17929A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528783 | ||||||
chrX:18528801
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+17947C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528801 | ||||||
chrX:18528951
|
A | G | 1 | a0001c0001t0016g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.99+18097A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528951 | ||||||
chrX:18529045
|
CATGTTTA others(6): Show |
C | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.99+18194_99+18206d others(15): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18529045 | |||||
chrX:18529080
|
CT | C | 11 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(8): Show | 11 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.99+18237delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18529080 | |||||
chrX:18529129
|
G | A | 70 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0089others(67): Show | 70 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(67): Show |
intron_variant | MODIFIER | c.99+18275G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18529129 | ||||||
chrX:18529184
|
C | CT | 7 | a0001c0001t0002g0158a0001c0001t0012g0001a0001c0001t0034g0015others(4): Show | 7 | HG01070.hp1 HG02630.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.99+18343dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18529184 | |||||
chrX:18529394
|
A | G | 8 | a0001c0001t0002g0078a0001c0001t0003g0077a0001c0001t0003g0083others(5): Show | 8 | NA18945.hp1 NA18948.hp1 NA18955.hp1 others(5): Show |
intron_variant | MODIFIER | c.99+18540A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18529394 | ||||||
chrX:18529533
|
G | A | 1 | a0001c0001t0002g0119 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.99+18679G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18529533 | ||||||
chrX:18529639
|
G | GT | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+18795dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18529639 | |||||
chrX:18530124
|
C | T | 1 | a0001c0001t0052g0086 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.99+19270C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530124 | ||||||
chrX:18530143
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+19289G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530143 | ||||||
chrX:18530172
|
C | CA | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.99+19328dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530172 | |||||
chrX:18530188
|
C | T | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.99+19334C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530188 | ||||||
chrX:18530335
|
C | CA | 10 | a0001c0001t0001g0080a0001c0001t0002g0035a0001c0001t0002g0036others(7): Show | 10 | HG02165.hp2 HG02723.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.99+19498dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530335 | |||||
chrX:18530335
|
C | CAA | 1 | a0001c0001t0034g0015 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.99+19497_99+19498d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530335 | |||||
chrX:18530335
|
CA | C | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.99+19498delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530335 | |||||
chrX:18530353
|
GA | G | 2 | a0001c0001t0003g0100a0001c0001t0010g0173 | 2 | HG03516.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.99+19507delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530353 | |||||
chrX:18530406
|
AC | A | 1 | a0001c0001t0042g0178 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.99+19553delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530406 | ||||||
chrX:18530730
|
A | AT | 2 | a0001c0001t0037g0155a0001c0001t0061g0005 | 2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.99+19883dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18530730 | |||||
chrX:18530814
|
T | C | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.99+19960T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530814 | ||||||
chrX:18531021
|
A | G | 4 | a0001c0001t0004g0191a0001c0001t0004g0192a0001c0001t0022g0064others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.99+20167A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531021 | ||||||
chrX:18531246
|
C | G | 1 | a0001c0001t0003g0066 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.99+20392C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531246 | ||||||
chrX:18531341
|
A | C | 6 | a0001c0001t0012g0001a0001c0001t0037g0155a0001c0001t0061g0005others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.99+20487A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531341 | ||||||
chrX:18531657
|
G | GA | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.99+20806dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18531657 | |||||
chrX:18531661
|
T | G | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.99+20807T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531661 | ||||||
chrX:18531706
|
TC | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+20853delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531706 | ||||||
chrX:18531707
|
C | T | 67 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0089others(64): Show | 67 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.99+20853C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531707 | ||||||
chrX:18531896
|
C | T | 1 | a0001c0001t0015g0187 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.99+21042C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18531896 | ||||||
chrX:18532039
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+21185G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18532039 | ||||||
chrX:18532281
|
G | T | 1 | a0001c0001t0014g0103 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.99+21427G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18532281 | ||||||
chrX:18532376
|
G | GT | 30 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.99+21534dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18532376 | |||||
chrX:18532889
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+22035A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18532889 | ||||||
chrX:18532922
|
A | G | 1 | a0001c0001t0053g0127 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.99+22068A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18532922 | ||||||
chrX:18533124
|
G | T | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.99+22270G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18533124 | ||||||
chrX:18533957
|
TC | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.99+23106delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18533957 | |||||
chrX:18533969
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+23115C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18533969 | ||||||
chrX:18534401
|
A | G | 1 | a0001c0001t0005g0053 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.99+23547A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18534401 | ||||||
chrX:18534478
|
A | T | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.99+23624A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18534478 | ||||||
chrX:18534763
|
T | A | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.99+23909T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18534763 | ||||||
chrX:18534809
|
A | G | 2 | a0001c0001t0018g0041a0001c0001t0018g0042 | 2 | HG02109.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.99+23955A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18534809 | ||||||
chrX:18535034
|
CT | C | 1 | a0001c0001t0007g0009 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.99+24187delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18535034 | |||||
chrX:18535046
|
G | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+24192G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535046 | ||||||
chrX:18535216
|
T | C | 29 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(26): Show | 29 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.99+24362T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535216 | ||||||
chrX:18535430
|
G | A | 25 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(22): Show | 25 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.99+24576G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535430 | ||||||
chrX:18535630
|
C | T | 1 | a0002c0005t0002g0114 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.99+24776C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535630 | ||||||
chrX:18535857
|
C | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.99+25003C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535857 | ||||||
chrX:18535997
|
C | T | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.99+25143C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18535997 | ||||||
chrX:18536150
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+25296A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18536150 | ||||||
chrX:18536401
|
A | G | 1 | a0001c0001t0001g0130 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.99+25547A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18536401 | ||||||
chrX:18536432
|
G | GT | 7 | a0001c0001t0004g0166a0001c0001t0006g0149a0001c0001t0006g0150others(4): Show | 7 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.99+25610dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
G | GTT | 14 | a0001c0001t0004g0176a0001c0001t0004g0177a0001c0001t0004g0182others(11): Show | 14 | HG00544.hp2 HG02165.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.99+25609_99+25610d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
G | GTTT | 8 | a0001c0001t0004g0165a0001c0001t0004g0186a0001c0001t0010g0173others(5): Show | 8 | HG00673.hp1 HG01255.hp1 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.99+25608_99+25610d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
G | GTTTT | 4 | a0001c0001t0004g0184a0001c0001t0004g0185a0001c0001t0022g0064others(1): Show | 4 | HG02451.hp1 NA19068.hp1 NA19081.hp2 others(1): Show |
intron_variant | MODIFIER | c.99+25607_99+25610d others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
G | GTTTTT | 3 | a0001c0001t0004g0171a0001c0001t0010g0170a0001c0001t0063g0006 | 3 | HG00597.hp2 NA18988.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.99+25606_99+25610d others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
G | GTTTTTT | 1 | a0001c0001t0010g0172 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.99+25605_99+25610d others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GT | G | 47 | a0001c0001t0001g0048a0001c0001t0001g0057a0001c0001t0001g0060others(44): Show | 47 | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(44): Show |
intron_variant | MODIFIER | c.99+25610delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTT | G | 80 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(77): Show | 80 | HG00140.hp1 HG00738.hp1 HG01069.hp1 others(77): Show |
intron_variant | MODIFIER | c.99+25609_99+25610d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTTT | G | 6 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0003g0020others(3): Show | 6 | HG02630.hp2 HG02895.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.99+25608_99+25610d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTTTTT | G | 7 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.99+25606_99+25610d others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTTTTTT | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+25605_99+25610d others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTTTTTTT others(9): Show |
G | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.99+25595_99+25610d others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536432
|
GTTTTTTT others(11): Show |
G | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.99+25593_99+25610d others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536432 | |||||
chrX:18536454
|
T | G | 1 | a0001c0001t0001g0057 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.99+25600T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18536454 | ||||||
chrX:18536465
|
G | A | 1 | a0001c0001t0001g0057 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.99+25611G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18536465 | ||||||
chrX:18536539
|
C | T | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.99+25685C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18536539 | ||||||
chrX:18536991
|
C | CT | 20 | a0001c0001t0002g0119a0001c0001t0006g0149a0001c0001t0006g0150others(17): Show | 20 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.99+26153dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536991 | |||||
chrX:18536991
|
CT | C | 7 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(4): Show | 7 | HG02258.hp1 HG02630.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.99+26153delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18536991 | |||||
chrX:18537177
|
C | A | 2 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | HG01256.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.99+26323C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537177 | ||||||
chrX:18537238
|
G | T | 1 | a0001c0002t0032g0003 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.99+26384G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537238 | ||||||
chrX:18537277
|
C | T | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.99+26423C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537277 | ||||||
chrX:18537481
|
G | A | 2 | a0001c0001t0017g0123a0001c0001t0017g0145 | 2 | NA19058.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.99+26627G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537481 | ||||||
chrX:18537535
|
T | C | 1 | a0001c0001t0001g0050 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.99+26681T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537535 | ||||||
chrX:18537569
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+26715G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537569 | ||||||
chrX:18537678
|
A | T | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.100-26799A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537678 | ||||||
chrX:18537685
|
G | T | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.100-26792G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537685 | ||||||
chrX:18537817
|
GT | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-26654delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18537817 | |||||
chrX:18537832
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-26645C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537832 | ||||||
chrX:18538012
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.100-26465G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18538012 | ||||||
chrX:18538089
|
C | T | 1 | a0001c0001t0046g0047 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.100-26388C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18538089 | ||||||
chrX:18538495
|
A | C | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-25982A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18538495 | ||||||
chrX:18538952
|
A | G | 4 | a0001c0001t0002g0010a0001c0001t0002g0128a0001c0001t0005g0011others(1): Show | 4 | HG01167.hp1 HG01358.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.100-25525A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18538952 | ||||||
chrX:18539285
|
A | G | 8 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.100-25192A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18539285 | ||||||
chrX:18539453
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-25024C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18539453 | ||||||
chrX:18539597
|
A | G | 2 | a0001c0001t0022g0064a0001c0001t0022g0065 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.100-24880A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18539597 | ||||||
chrX:18539695
|
A | G | 1 | a0001c0001t0003g0020 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.100-24782A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18539695 | ||||||
chrX:18540156
|
G | GGTT | 13 | a0001c0001t0001g0088a0001c0001t0001g0140a0001c0001t0006g0149others(10): Show | 13 | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.100-24293_100-2429 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18540156 | |||||
chrX:18540159
|
T | G | 1 | a0001c0001t0028g0175 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.100-24318T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540159 | ||||||
chrX:18540233
|
G | A | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.100-24244G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540233 | ||||||
chrX:18540270
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-24207G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540270 | ||||||
chrX:18540280
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-24197G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540280 | ||||||
chrX:18540423
|
T | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-24054T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540423 | ||||||
chrX:18540456
|
A | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-24021A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540456 | ||||||
chrX:18541824
|
G | GT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.100-22643dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18541824 | |||||
chrX:18541956
|
A | T | 1 | a0001c0001t0046g0047 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.100-22521A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18541956 | ||||||
chrX:18542372
|
A | T | 5 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(2): Show | 5 | HG02145.hp1 HG02647.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.100-22105A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542372 | ||||||
chrX:18542446
|
C | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-22031C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542446 | ||||||
chrX:18542487
|
C | CTTT | 38 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(35): Show | 38 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.100-21989_100-2198 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18542487 | |||||
chrX:18542514
|
G | A | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.100-21963G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542514 | ||||||
chrX:18542658
|
GA | G | 6 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(3): Show | 6 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.100-21818delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542658 | ||||||
chrX:18542659
|
A | AT | 9 | a0001c0001t0001g0048a0001c0001t0001g0060a0001c0001t0001g0094others(6): Show | 9 | HG00621.hp1 HG00642.hp1 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.100-21803dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18542659 | |||||
chrX:18542659
|
AT | A | 30 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.100-21803delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18542659 | |||||
chrX:18542820
|
A | G | 1 | a0001c0001t0006g0149 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.100-21657A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542820 | ||||||
chrX:18542973
|
C | T | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.100-21504C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18542973 | ||||||
chrX:18543197
|
C | T | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.100-21280C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18543197 | ||||||
chrX:18543300
|
A | AT | 1 | a0001c0001t0051g0018 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.100-21167dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18543300 | |||||
chrX:18543300
|
AT | A | 3 | a0001c0001t0018g0041a0001c0001t0018g0042a0001c0001t0059g0071 | 3 | HG02109.hp2 HG02486.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.100-21167delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18543300 | |||||
chrX:18543853
|
C | A | 2 | a0001c0001t0005g0075a0001c0001t0005g0076 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.100-20624C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18543853 | ||||||
chrX:18543946
|
T | G | 55 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(52): Show | 55 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.100-20531T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18543946 | ||||||
chrX:18544028
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.100-20449C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18544028 | ||||||
chrX:18544049
|
C | A | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.100-20428C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18544049 | ||||||
chrX:18544057
|
C | G | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.100-20420C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18544057 | ||||||
chrX:18544097
|
C | G | 2 | a0001c0001t0003g0055a0001c0001t0005g0068 | 2 | NA18960.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.100-20380C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18544097 | ||||||
chrX:18544287
|
CA | C | 1 | a0001c0001t0019g0037 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.100-20188delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18544287 | |||||
chrX:18544909
|
G | A | 1 | a0001c0001t0002g0163 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.100-19568G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18544909 | ||||||
chrX:18545190
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.100-19287C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545190 | ||||||
chrX:18545450
|
G | A | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.100-19027G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545450 | ||||||
chrX:18545452
|
C | T | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.100-19025C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545452 | ||||||
chrX:18545601
|
G | A | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.100-18876G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545601 | ||||||
chrX:18545695
|
CAG | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-18780_100-1877 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18545695 | |||||
chrX:18546258
|
C | CT | 8 | a0001c0001t0001g0143a0001c0001t0012g0001a0001c0001t0021g0111others(5): Show | 8 | HG01070.hp1 HG01884.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.100-18199dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18546258 | |||||
chrX:18546258
|
CT | C | 6 | a0001c0001t0002g0049a0001c0001t0005g0075a0001c0001t0005g0099others(3): Show | 6 | HG01074.hp1 HG01515.hp1 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.100-18199delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18546258 | |||||
chrX:18546258
|
CTTT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-18201_100-1819 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18546258 | |||||
chrX:18546297
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-18180T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18546297 | ||||||
chrX:18546410
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-18067C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18546410 | ||||||
chrX:18546978
|
A | G | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.100-17499A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18546978 | ||||||
chrX:18547152
|
G | GAATA | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-17321_100-1731 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18547152 | |||||
chrX:18547371
|
C | A | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.100-17106C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547371 | ||||||
chrX:18547683
|
G | A | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.100-16794G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547683 | ||||||
chrX:18547696
|
A | G | 1 | a0001c0001t0019g0037 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.100-16781A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547696 | ||||||
chrX:18547887
|
A | G | 1 | a0001c0001t0019g0028 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.100-16590A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547887 | ||||||
chrX:18547917
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-16560C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547917 | ||||||
chrX:18547962
|
T | G | 1 | a0001c0001t0009g0133 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.100-16515T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547962 | ||||||
chrX:18548133
|
GT | G | 3 | a0001c0001t0021g0111a0001c0001t0021g0112a0001c0001t0041g0138 | 3 | HG01884.hp1 NA18906.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.100-16330delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18548133 | |||||
chrX:18548743
|
T | C | 7 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.100-15734T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18548743 | ||||||
chrX:18548763
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-15714G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18548763 | ||||||
chrX:18548784
|
C | T | 1 | a0001c0001t0001g0059 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.100-15693C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18548784 | ||||||
chrX:18549308
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.100-15169T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18549308 | ||||||
chrX:18549371
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-15106A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18549371 | ||||||
chrX:18549837
|
C | T | 1 | a0001c0001t0002g0036 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.100-14640C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18549837 | ||||||
chrX:18550047
|
G | A | 1 | a0001c0001t0048g0124 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.100-14430G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18550047 | ||||||
chrX:18551033
|
C | T | 1 | a0001c0001t0001g0113 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.100-13444C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551033 | ||||||
chrX:18551388
|
A | G | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.100-13089A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551388 | ||||||
chrX:18551496
|
C | T | 34 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(31): Show | 34 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.100-12981C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551496 | ||||||
chrX:18551559
|
C | CATT | 52 | a0001c0001t0001g0029a0001c0001t0001g0048a0001c0001t0001g0081others(49): Show | 52 | HG00544.hp2 HG00621.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.100-12875_100-1287 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551559
|
C | CATTATT | 54 | a0001c0001t0001g0025a0001c0001t0001g0044a0001c0001t0001g0057others(51): Show | 54 | HG00597.hp1 HG00609.hp1 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.100-12878_100-1287 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551559
|
C | CATTATTA others(2): Show |
21 | a0001c0001t0001g0050a0001c0001t0001g0090a0001c0001t0001g0094others(18): Show | 21 | HG00673.hp1 HG01109.hp1 HG01167.hp1 others(18): Show |
intron_variant | MODIFIER | c.100-12881_100-1287 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551559
|
CATT | C | 13 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0072others(10): Show | 13 | HG01884.hp2 HG02258.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.100-12875_100-1287 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551559
|
CATTATT | C | 5 | a0001c0001t0012g0001a0001c0001t0063g0006a0001c0002t0012g0002others(2): Show | 5 | HG00597.hp2 HG01070.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.100-12878_100-1287 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551559
|
CATTATTA others(5): Show |
C | 1 | a0001c0001t0013g0027 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.100-12884_100-1287 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551559 | |||||
chrX:18551603
|
T | TTATTA | 2 | a0001c0001t0001g0060a0001c0001t0003g0125 | 2 | HG01978.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.100-12873_100-1287 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551603 | |||||
chrX:18551604
|
T | TATTA | 1 | a0001c0001t0001g0059 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.100-12873_100-1287 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551604 | ||||||
chrX:18551711
|
A | G | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.100-12766A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551711 | ||||||
chrX:18551761
|
A | AGT | 1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.100-12704_100-1270 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18551761 | |||||
chrX:18551868
|
T | C | 1 | a0001c0001t0009g0132 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.100-12609T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551868 | ||||||
chrX:18552132
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.100-12345G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18552132 | ||||||
chrX:18552237
|
C | CA | 8 | a0001c0001t0001g0050a0001c0001t0006g0149a0001c0001t0006g0150others(5): Show | 8 | HG01109.hp1 HG01884.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.100-12224dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18552237 | |||||
chrX:18552237
|
CA | C | 2 | a0001c0001t0001g0046a0001c0001t0062g0051 | 2 | HG01099.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.100-12224delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18552237 | |||||
chrX:18552643
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-11834G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18552643 | ||||||
chrX:18552904
|
G | A | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.100-11573G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18552904 | ||||||
chrX:18553112
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-11365T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553112 | ||||||
chrX:18553355
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-11122C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553355 | ||||||
chrX:18553452
|
T | TTG | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.100-11014_100-1101 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553452 | |||||
chrX:18553453
|
TGTGTGTG others(5): Show |
T | 3 | a0001c0001t0004g0186a0001c0001t0010g0170a0001c0001t0010g0172 | 3 | NA18988.hp1 NA19066.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.100-11012_100-1100 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553453 | |||||
chrX:18553461
|
TGTGC | T | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.100-11012_100-1100 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553461 | |||||
chrX:18553463
|
T | TGC | 1 | a0001c0001t0008g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.100-11012_100-1101 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553463 | |||||
chrX:18553465
|
C | CGT | 13 | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0001g0115others(10): Show | 13 | HG02165.hp2 HG02602.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.100-10975_100-1097 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
C | CGTGT | 4 | a0001c0001t0007g0019a0001c0001t0014g0012a0001c0001t0024g0095others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.100-10977_100-1097 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
C | CGTGTGT | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.100-10979_100-1097 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
C | CGTGTGTG others(1): Show |
1 | a0001c0001t0002g0102 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.100-10981_100-1097 others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
C | CTT | 2 | a0001c0001t0006g0149a0001c0001t0006g0152 | 2 | HG01109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.100-11012_100-1101 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553465 | ||||||
chrX:18553465
|
C | CTTGT | 2 | a0001c0001t0006g0150a0001c0001t0006g0151 | 2 | HG02109.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.100-11012_100-1101 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553465 | ||||||
chrX:18553465
|
C | CTTGTGT | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.100-11012_100-1101 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553465 | ||||||
chrX:18553465
|
CGT | C | 8 | a0001c0001t0002g0033a0001c0001t0002g0036a0001c0001t0007g0014others(5): Show | 8 | HG01070.hp1 HG02293.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-10975_100-1097 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
CGTGT | C | 2 | a0001c0001t0034g0015a0001c0001t0060g0092 | 2 | HG02723.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.100-10977_100-1097 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
CGTGTGT | C | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.100-10979_100-1097 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
CGTGTGTG others(3): Show |
C | 2 | a0001c0001t0004g0185a0001c0001t0061g0005 | 2 | HG01884.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.100-10983_100-1097 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553465
|
CGTGTGTG others(5): Show |
C | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.100-10985_100-1097 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18553465 | |||||
chrX:18553466
|
G | T | 8 | a0001c0001t0006g0154a0001c0001t0014g0091a0001c0001t0014g0103others(5): Show | 8 | HG01884.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-11011G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553466 | ||||||
chrX:18553479
|
T | C | 3 | a0001c0001t0004g0186a0001c0001t0010g0170a0001c0001t0010g0172 | 3 | NA18988.hp1 NA19066.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.100-10998T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553479 | ||||||
chrX:18554064
|
A | T | 1 | a0001c0002t0012g0002 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.100-10413A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554064 | ||||||
chrX:18554064
|
AT | A | 8 | a0001c0001t0001g0113a0001c0001t0008g0097a0001c0001t0008g0120others(5): Show | 8 | HG00642.hp1 HG02055.hp1 HG03225.hp1 others(5): Show |
intron_variant | MODIFIER | c.100-10402delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18554064 | |||||
chrX:18554065
|
T | TA | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.100-10412_100-1041 others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554065 | ||||||
chrX:18554066
|
T | A | 55 | a0001c0001t0002g0049a0001c0001t0002g0105a0001c0001t0002g0163others(52): Show | 55 | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(52): Show |
intron_variant | MODIFIER | c.100-10411T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554066 | ||||||
chrX:18554068
|
T | A | 2 | a0001c0001t0022g0064a0001c0001t0022g0065 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.100-10409T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554068 | ||||||
chrX:18554145
|
C | T | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.100-10332C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554145 | ||||||
chrX:18554361
|
G | GA | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.100-10105dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18554361 | |||||
chrX:18554414
|
C | CT | 7 | a0001c0001t0005g0053a0001c0001t0008g0097a0001c0001t0029g0181others(4): Show | 7 | HG00673.hp1 HG01928.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.100-10046dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18554414 | |||||
chrX:18554414
|
CT | C | 3 | a0001c0001t0002g0031a0001c0001t0002g0141a0001c0001t0002g0142 | 3 | HG02165.hp2 NA18970.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.100-10046delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18554414 | |||||
chrX:18554567
|
C | T | 4 | a0001c0001t0014g0103a0001c0001t0022g0064a0001c0001t0022g0065others(1): Show | 4 | HG02451.hp1 HG02717.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.100-9910C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554567 | ||||||
chrX:18554616
|
A | G | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.100-9861A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554616 | ||||||
chrX:18554651
|
G | A | 2 | a0001c0001t0001g0088a0001c0001t0001g0140 | 2 | HG01243.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.100-9826G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554651 | ||||||
chrX:18554985
|
A | G | 2 | a0001c0001t0002g0107a0001c0001t0008g0054 | 2 | HG01261.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.100-9492A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554985 | ||||||
chrX:18555003
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-9474G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555003 | ||||||
chrX:18555272
|
A | AC | 11 | a0001c0001t0004g0182a0001c0001t0004g0183a0001c0001t0004g0184others(8): Show | 11 | HG00597.hp2 HG01255.hp1 HG02165.hp1 others(8): Show |
intron_variant | MODIFIER | c.100-9199dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18555272 | |||||
chrX:18555369
|
A | T | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.100-9108A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555369 | ||||||
chrX:18555429
|
G | A | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-9048G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555429 | ||||||
chrX:18555495
|
G | A | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.100-8982G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555495 | ||||||
chrX:18555507
|
A | G | 3 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096 | 3 | HG01070.hp2 HG01071.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.100-8970A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555507 | ||||||
chrX:18555605
|
AT | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-8865delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18555605 | |||||
chrX:18555846
|
G | A | 12 | a0001c0001t0001g0067a0001c0001t0001g0072a0001c0001t0001g0089others(9): Show | 12 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.100-8631G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555846 | ||||||
chrX:18555962
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-8515C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18555962 | ||||||
chrX:18556050
|
A | G | 1 | a0001c0001t0002g0128 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.100-8427A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18556050 | ||||||
chrX:18556166
|
G | A | 2 | a0001c0001t0018g0041a0001c0001t0018g0042 | 2 | HG02109.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.100-8311G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18556166 | ||||||
chrX:18556191
|
T | TA | 1 | a0001c0001t0015g0187 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.100-8280dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18556191 | |||||
chrX:18556535
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-7942G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18556535 | ||||||
chrX:18556882
|
C | CA | 146 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(143): Show | 146 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(143): Show |
intron_variant | MODIFIER | c.100-7571dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18556882 | |||||
chrX:18556882
|
C | CAA | 14 | a0001c0001t0001g0072a0001c0001t0002g0033a0001c0001t0002g0036others(11): Show | 14 | HG00642.hp1 HG01071.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.100-7572_100-7571d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18556882 | |||||
chrX:18556882
|
C | CAAA | 1 | a0001c0001t0003g0100 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.100-7573_100-7571d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18556882 | |||||
chrX:18556882
|
CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-7585_100-7571d others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18556882 | |||||
chrX:18557088
|
G | A | 5 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.100-7389G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18557088 | ||||||
chrX:18557443
|
CTGGAACC others(2): Show |
C | 3 | a0001c0001t0004g0186a0001c0001t0010g0170a0001c0001t0010g0172 | 3 | NA18988.hp1 NA19066.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.100-7030_100-7022d others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18557443 | |||||
chrX:18557520
|
G | A | 1 | a0001c0001t0002g0128 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.100-6957G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18557520 | ||||||
chrX:18557978
|
AT | A | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.100-6489delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18557978 | |||||
chrX:18558226
|
G | A | 1 | a0001c0001t0002g0163 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.100-6251G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18558226 | ||||||
chrX:18558429
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-6048C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18558429 | ||||||
chrX:18558687
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.100-5790G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18558687 | ||||||
chrX:18558849
|
A | G | 3 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0115 | 3 | HG02015.hp1 HG03492.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.100-5628A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18558849 | ||||||
chrX:18558881
|
A | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.100-5596A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18558881 | ||||||
chrX:18559088
|
G | A | 3 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0115 | 3 | HG02015.hp1 HG03492.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.100-5389G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18559088 | ||||||
chrX:18559357
|
C | T | 4 | a0001c0001t0002g0010a0001c0001t0002g0128a0001c0001t0005g0011others(1): Show | 4 | HG01167.hp1 HG01358.hp1 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.100-5120C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18559357 | ||||||
chrX:18559618
|
C | CT | 2 | a0001c0001t0017g0145a0001c0001t0033g0168 | 2 | HG00673.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.100-4844dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18559618 | |||||
chrX:18559618
|
CT | C | 5 | a0001c0001t0002g0010a0001c0001t0007g0062a0001c0001t0034g0015others(2): Show | 5 | HG01074.hp1 HG02723.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.100-4844delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18559618 | |||||
chrX:18559778
|
T | C | 10 | a0001c0001t0004g0182a0001c0001t0004g0183a0001c0001t0004g0184others(7): Show | 10 | HG00597.hp2 HG02165.hp1 HG04184.hp2 others(7): Show |
intron_variant | MODIFIER | c.100-4699T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18559778 | ||||||
chrX:18559783
|
C | G | 10 | a0001c0001t0004g0182a0001c0001t0004g0183a0001c0001t0004g0184others(7): Show | 10 | HG00597.hp2 HG02165.hp1 HG04184.hp2 others(7): Show |
intron_variant | MODIFIER | c.100-4694C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18559783 | ||||||
chrX:18559784
|
T | TC | 2 | a0001c0001t0013g0159a0001c0001t0029g0181 | 2 | HG00597.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.100-4687dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18559784 | |||||
chrX:18559880
|
G | A | 1 | a0001c0001t0002g0146 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.100-4597G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18559880 | ||||||
chrX:18560011
|
A | G | 1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.100-4466A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560011 | ||||||
chrX:18560095
|
C | A | 1 | a0001c0001t0002g0141 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.100-4382C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560095 | ||||||
chrX:18560211
|
A | G | 1 | a0001c0001t0007g0014 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.100-4266A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560211 | ||||||
chrX:18560259
|
A | T | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-4218A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560259 | ||||||
chrX:18560330
|
C | T | 1 | a0001c0001t0005g0052 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.100-4147C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560330 | ||||||
chrX:18560735
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-3742T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560735 | ||||||
chrX:18560776
|
T | TAC | 3 | a0001c0001t0034g0015a0001c0001t0035g0148a0001c0001t0037g0155 | 3 | HG02723.hp1 HG02922.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.100-3678_100-3677d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18560776 | |||||
chrX:18560776
|
T | TACACACA others(5): Show |
1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-3688_100-3677d others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18560776 | |||||
chrX:18560776
|
TAC | T | 182 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(179): Show | 182 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(179): Show |
intron_variant | MODIFIER | c.100-3678_100-3677d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18560776 | |||||
chrX:18560853
|
A | AT | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-3624_100-3623i others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560853 | ||||||
chrX:18560855
|
G | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-3622G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560855 | ||||||
chrX:18560856
|
T | TG | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-3621_100-3620i others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560856 | ||||||
chrX:18560923
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.100-3554A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18560923 | ||||||
chrX:18561046
|
TTTC | T | 13 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(10): Show | 13 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.100-3422_100-3420d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18561046 | |||||
chrX:18561348
|
T | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-3129T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18561348 | ||||||
chrX:18561435
|
T | TA | 34 | a0001c0001t0001g0029a0001c0001t0002g0189a0001c0001t0002g0190others(31): Show | 34 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.100-3028dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18561435 | |||||
chrX:18561435
|
T | TAA | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-3029_100-3028d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18561435 | |||||
chrX:18561435
|
TA | T | 2 | a0001c0001t0005g0098a0001c0001t0014g0012 | 2 | HG03516.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.100-3028delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | 18561435 | |||||
chrX:18561610
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-2867A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18561610 | ||||||
chrX:18561656
|
C | T | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.100-2821C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18561656 | ||||||
chrX:18561841
|
A | G | 2 | a0001c0001t0022g0064a0001c0001t0022g0065 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.100-2636A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18561841 | ||||||
chrX:18561900
|
A | G | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.100-2577A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18561900 | ||||||
chrX:18562525
|
A | G | 6 | a0001c0001t0012g0001a0001c0001t0037g0155a0001c0001t0061g0005others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.100-1952A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18562525 | ||||||
chrX:18562608
|
A | G | 5 | a0001c0001t0003g0022a0001c0001t0003g0061a0001c0001t0005g0075others(2): Show | 5 | HG00738.hp1 HG01192.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.100-1869A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18562608 | ||||||
chrX:18562807
|
A | G | 8 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.100-1670A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18562807 | ||||||
chrX:18562846
|
T | C | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.100-1631T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18562846 | ||||||
chrX:18563255
|
G | C | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.100-1222G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18563255 | ||||||
chrX:18563420
|
T | G | 1 | a0001c0001t0001g0046 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.100-1057T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18563420 | ||||||
chrX:18563466
|
A | C | 1 | a0001c0001t0048g0124 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.100-1011A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18563466 | ||||||
chrX:18563664
|
A | G | 42 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(39): Show | 42 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.100-813A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18563664 | ||||||
chrX:18563887
|
A | G | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.100-590A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18563887 | ||||||
chrX:18564020
|
G | A | 1 | a0001c0001t0001g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.100-457G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18564020 | ||||||
chrX:18564023
|
C | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-454C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18564023 | ||||||
chrX:18564333
|
A | G | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-144A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18564333 | ||||||
chrX:18564526
|
G | GAT | 1 | a0001c0001t0001g0130 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.145+27_145+28dupAT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 18564526 | |||||
chrX:18565120
|
A | G | 1 | a0001c0001t0001g0048 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.145+598A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18565120 | ||||||
chrX:18565426
|
C | T | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.145+904C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18565426 | ||||||
chrX:18565996
|
A | G | 1 | a0001c0001t0001g0050 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.145+1474A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18565996 | ||||||
chrX:18566155
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.145+1633C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18566155 | ||||||
chrX:18566227
|
C | T | 3 | a0001c0001t0002g0102a0001c0001t0002g0189a0001c0001t0002g0190 | 3 | HG02976.hp1 HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.145+1705C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18566227 | ||||||
chrX:18566351
|
C | T | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.145+1829C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18566351 | ||||||
chrX:18566818
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.145+2296T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18566818 | ||||||
chrX:18566952
|
C | T | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.145+2430C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18566952 | ||||||
chrX:18567126
|
C | T | 1 | a0001c0001t0023g0021 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.145+2604C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567126 | ||||||
chrX:18567221
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.145+2699T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567221 | ||||||
chrX:18567390
|
T | C | 30 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.145+2868T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567390 | ||||||
chrX:18567509
|
T | C | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.145+2987T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567509 | ||||||
chrX:18567682
|
AC | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.145+3162delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 18567682 | |||||
chrX:18567691
|
G | A | 1 | a0001c0001t0011g0085 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.145+3169G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567691 | ||||||
chrX:18567701
|
C | T | 7 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(4): Show | 7 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.145+3179C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567701 | ||||||
chrX:18567833
|
C | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.145+3311C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567833 | ||||||
chrX:18567922
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.145+3400C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567922 | ||||||
chrX:18567932
|
G | T | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.145+3410G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567932 | ||||||
chrX:18568075
|
A | ATT | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.145+3556_145+3557d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 18568075 | |||||
chrX:18569504
|
T | C | 61 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(58): Show | 61 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(58): Show |
intron_variant | MODIFIER | c.145+4982T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18569504 | ||||||
chrX:18569581
|
C | G | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.145+5059C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18569581 | ||||||
chrX:18570052
|
CT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.146-5301delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18570052 | ||||||
chrX:18570423
|
C | T | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.146-4931C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18570423 | ||||||
chrX:18570533
|
A | AC | 1 | a0001c0001t0006g0149 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.146-4816dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 18570533 | |||||
chrX:18570590
|
A | G | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.146-4764A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18570590 | ||||||
chrX:18571568
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.146-3786A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18571568 | ||||||
chrX:18572002
|
T | C | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.146-3352T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18572002 | ||||||
chrX:18572091
|
AAAG | A | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.146-3260_146-3258d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chrX | 18572091 | |||||
chrX:18572424
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.146-2930T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18572424 | ||||||
chrX:18572541
|
G | A | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.146-2813G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18572541 | ||||||
chrX:18572685
|
G | A | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.146-2669G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18572685 | ||||||
chrX:18573275
|
T | A | 31 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(28): Show | 31 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.146-2079T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18573275 | ||||||
chrX:18573671
|
G | A | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.146-1683G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18573671 | ||||||
chrX:18573816
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.146-1538T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18573816 | ||||||
chrX:18573838
|
C | T | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.146-1516C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18573838 | ||||||
chrX:18574027
|
C | T | 4 | a0001c0001t0009g0132a0001c0001t0009g0133a0001c0001t0009g0134others(1): Show | 4 | HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.146-1327C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574027 | ||||||
chrX:18574386
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.146-968T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574386 | ||||||
chrX:18574467
|
T | A | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.146-887T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574467 | ||||||
chrX:18574577
|
T | C | 1 | a0001c0001t0035g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.146-777T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574577 | ||||||
chrX:18574617
|
T | C | 6 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(3): Show | 6 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.146-737T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574617 | ||||||
chrX:18574893
|
A | G | 2 | a0001c0001t0014g0103a0001c0001t0023g0021 | 2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.146-461A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18574893 | ||||||
chrX:18575155
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.146-199G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18575155 | ||||||
chrX:18575256
|
A | G | 6 | a0001c0001t0012g0001a0001c0001t0037g0155a0001c0001t0061g0005others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.146-98A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18575256 | ||||||
chrX:18575839
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.282+349G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18575839 | ||||||
chrX:18576004
|
A | G | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.282+514A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18576004 | ||||||
chrX:18576682
|
C | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.282+1192C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18576682 | ||||||
chrX:18576692
|
G | A | 30 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(27): Show | 30 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.282+1202G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18576692 | ||||||
chrX:18576806
|
G | GT | 3 | a0001c0001t0001g0143a0001c0001t0004g0192a0001c0001t0031g0032 | 3 | HG01258.hp1 HG02145.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.282+1332dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 18576806 | |||||
chrX:18576806
|
GT | G | 5 | a0001c0001t0002g0078a0001c0001t0003g0083a0001c0001t0003g0087others(2): Show | 5 | HG02723.hp1 HG03041.hp1 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.282+1332delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | 18576806 | |||||
chrX:18577853
|
C | T | 2 | a0001c0001t0005g0053a0001c0001t0005g0108 | 2 | HG01928.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.283-1995C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18577853 | ||||||
chrX:18577876
|
G | T | 2 | a0001c0001t0001g0060a0001c0001t0003g0125 | 2 | HG01978.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.283-1972G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18577876 | ||||||
chrX:18578221
|
C | T | 2 | a0001c0001t0002g0141a0001c0001t0002g0142 | 2 | HG02165.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.283-1627C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18578221 | ||||||
chrX:18578247
|
G | A | 1 | a0001c0001t0058g0056 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.283-1601G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18578247 | ||||||
chrX:18578600
|
G | A | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.283-1248G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18578600 | ||||||
chrX:18578964
|
A | G | 1 | a0001c0001t0020g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.283-884A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18578964 | ||||||
chrX:18579046
|
C | T | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.283-802C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579046 | ||||||
chrX:18579154
|
G | A | 6 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(3): Show | 6 | HG01109.hp1 HG02109.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.283-694G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579154 | ||||||
chrX:18579392
|
G | A | 191 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(188): Show | 191 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(188): Show |
intron_variant | MODIFIER | c.283-456G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579392 | ||||||
chrX:18579635
|
T | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.283-213T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579635 | ||||||
chrX:18579736
|
A | T | 2 | a0001c0001t0024g0095a0001c0001t0024g0096 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.283-112A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579736 | ||||||
chrX:18579749
|
C | A | 63 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(60): Show | 63 | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(60): Show |
intron_variant | MODIFIER | c.283-99C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 5/17 | chrX | 18579749 | ||||||
chrX:18580216
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.403+248A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18580216 | ||||||
chrX:18580285
|
T | C | 1 | a0001c0001t0003g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.403+317T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18580285 | ||||||
chrX:18580668
|
A | G | 2 | a0001c0001t0001g0060a0001c0001t0003g0125 | 2 | HG01978.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.403+700A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18580668 | ||||||
chrX:18580956
|
TG | T | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-932delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 18580956 | |||||
chrX:18581032
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.404-859G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581032 | ||||||
chrX:18581207
|
G | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.404-684G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581207 | ||||||
chrX:18581265
|
AT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-622delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 18581265 | |||||
chrX:18581324
|
T | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.404-567T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581324 | ||||||
chrX:18581446
|
A | G | 4 | a0001c0001t0004g0191a0001c0001t0004g0192a0001c0001t0022g0064others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.404-445A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581446 | ||||||
chrX:18581447
|
T | G | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-444T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581447 | ||||||
chrX:18581526
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.404-365C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581526 | ||||||
chrX:18581540
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.404-351A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581540 | ||||||
chrX:18581592
|
A | AT | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-299_404-298ins others(1): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581592 | ||||||
chrX:18581721
|
G | A | 1 | a0001c0001t0016g0147 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.404-170G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581721 | ||||||
chrX:18581753
|
C | CT | 6 | a0001c0001t0012g0001a0001c0001t0037g0155a0001c0001t0061g0005others(3): Show | 6 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.404-135dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 18581753 | |||||
chrX:18581753
|
CT | C | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-135delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 18581753 | |||||
chrX:18581765
|
T | TG | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.404-125dupG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | 18581765 | |||||
chrX:18581786
|
T | G | 4 | a0001c0001t0001g0072a0001c0001t0003g0026a0001c0001t0003g0100others(1): Show | 4 | HG02258.hp1 HG02630.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.404-105T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581786 | ||||||
chrX:18581988
|
AT | A | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.463+40delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chrX | 18581988 | |||||
chrX:18582261
|
T | G | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.463+311T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18582261 | ||||||
chrX:18582298
|
A | G | 13 | a0001c0001t0001g0043a0001c0001t0002g0107a0001c0001t0003g0020others(10): Show | 13 | HG01255.hp1 HG01261.hp1 HG01943.hp1 others(10): Show |
intron_variant | MODIFIER | c.463+348A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18582298 | ||||||
chrX:18582372
|
C | T | 1 | a0001c0001t0003g0020 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.463+422C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18582372 | ||||||
chrX:18582922
|
A | G | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.463+972A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18582922 | ||||||
chrX:18582957
|
T | G | 2 | a0001c0001t0030g0174a0004c0003t0036g0008 | 2 | NA18941.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.463+1007T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18582957 | ||||||
chrX:18583288
|
G | A | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.464-975G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18583288 | ||||||
chrX:18583524
|
C | T | 1 | a0001c0001t0049g0017 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.464-739C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18583524 | ||||||
chrX:18583804
|
A | T | 1 | a0001c0001t0046g0047 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.464-459A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18583804 | ||||||
chrX:18583965
|
A | T | 6 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(3): Show | 6 | HG01106.hp1 HG02145.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.464-298A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18583965 | ||||||
chrX:18584190
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.464-73G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 7/17 | chrX | 18584190 | ||||||
chrX:18584558
|
C | T | 2 | a0001c0001t0002g0038a0001c0001t0002g0074 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.554+205C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18584558 | ||||||
chrX:18585006
|
G | A | 3 | a0001c0001t0011g0085a0001c0001t0011g0179a0001c0001t0011g0180 | 3 | NA19002.hp2 NA19004.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.554+653G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18585006 | ||||||
chrX:18585031
|
A | G | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.554+678A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18585031 | ||||||
chrX:18585402
|
C | CA | 1 | a0001c0001t0002g0036 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.554+1056dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 18585402 | |||||
chrX:18585402
|
CA | C | 1 | a0001c0001t0001g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.554+1056delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 18585402 | |||||
chrX:18585402
|
CAAAA | C | 7 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0093others(4): Show | 7 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.554+1053_554+1056d others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 18585402 | |||||
chrX:18585404
|
A | C | 1 | a0001c0001t0004g0165 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.554+1051A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18585404 | ||||||
chrX:18585551
|
AC | A | 11 | a0001c0001t0001g0072a0001c0001t0001g0089a0001c0001t0001g0090others(8): Show | 11 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.554+1201delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chrX | 18585551 | |||||
chrX:18585947
|
A | T | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.554+1594A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18585947 | ||||||
chrX:18586013
|
G | A | 1 | a0001c0001t0002g0102 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.554+1660G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18586013 | ||||||
chrX:18586038
|
G | C | 1 | a0001c0001t0027g0167 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.554+1685G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18586038 | ||||||
chrX:18587156
|
C | T | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.555-798C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587156 | ||||||
chrX:18587292
|
T | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.555-662T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587292 | ||||||
chrX:18587800
|
G | A | 1 | a0001c0001t0053g0127 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.555-154G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587800 | ||||||
chrX:18587831
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.555-123G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587831 | ||||||
chrX:18587886
|
T | C | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.555-68T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587886 | ||||||
chrX:18587935
|
C | G | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.555-19C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 8/17 | chrX | 18587935 | ||||||
chrX:18588255
|
T | G | 2 | a0001c0001t0022g0064a0001c0001t0022g0065 | 2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.744+112T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18588255 | ||||||
chrX:18588712
|
A | T | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.744+569A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18588712 | ||||||
chrX:18588919
|
A | C | 8 | a0001c0001t0001g0080a0001c0001t0012g0001a0001c0001t0034g0015others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.744+776A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18588919 | ||||||
chrX:18588931
|
C | CA | 2 | a0001c0001t0016g0147a0001c0001t0044g0016 | 2 | HG00544.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.744+798dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18588931 | |||||
chrX:18588931
|
CA | C | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.744+798delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18588931 | |||||
chrX:18588934
|
A | C | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.744+791A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18588934 | ||||||
chrX:18589142
|
G | GT | 5 | a0001c0001t0014g0103a0001c0001t0022g0064a0001c0001t0022g0065others(2): Show | 5 | HG01884.hp2 HG02451.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.744+1011dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18589142 | |||||
chrX:18589142
|
GT | G | 33 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(30): Show | 33 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.744+1011delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18589142 | |||||
chrX:18589309
|
G | A | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.744+1166G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589309 | ||||||
chrX:18589666
|
T | C | 1 | a0001c0001t0008g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.744+1523T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589666 | ||||||
chrX:18589869
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.744+1726C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589869 | ||||||
chrX:18589901
|
T | G | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.744+1758T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589901 | ||||||
chrX:18589955
|
A | G | 1 | a0001c0001t0003g0077 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.744+1812A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589955 | ||||||
chrX:18589957
|
A | G | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.744+1814A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18589957 | ||||||
chrX:18590061
|
C | T | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1918C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590061 | ||||||
chrX:18590101
|
G | C | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1958G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590101 | ||||||
chrX:18590105
|
G | A | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1962G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590105 | ||||||
chrX:18590108
|
T | G | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1965T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590108 | ||||||
chrX:18590111
|
TC | T | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1969delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590111 | ||||||
chrX:18590124
|
A | G | 1 | a0001c0001t0005g0099 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.744+1981A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590124 | ||||||
chrX:18590137
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.744+1994T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590137 | ||||||
chrX:18590255
|
G | GTT | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.744+2114_744+2115d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18590255 | |||||
chrX:18590450
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.744+2307T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590450 | ||||||
chrX:18590587
|
C | T | 1 | a0001c0001t0002g0161 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.744+2444C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590587 | ||||||
chrX:18590805
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.744+2662A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18590805 | ||||||
chrX:18591142
|
C | G | 1 | a0001c0001t0002g0023 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.744+2999C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18591142 | ||||||
chrX:18591260
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.744+3117G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18591260 | ||||||
chrX:18591378
|
T | A | 27 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(24): Show | 27 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
intron_variant | MODIFIER | c.744+3235T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18591378 | ||||||
chrX:18591421
|
T | G | 49 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(46): Show | 49 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(46): Show |
intron_variant | MODIFIER | c.744+3278T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18591421 | ||||||
chrX:18591499
|
G | A | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.744+3356G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18591499 | ||||||
chrX:18591804
|
A | AAAT | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.745-3543_745-3541d others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18591804 | |||||
chrX:18592396
|
C | A | 1 | a0001c0001t0006g0151 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.745-2952C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18592396 | ||||||
chrX:18592545
|
G | A | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.745-2803G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18592545 | ||||||
chrX:18592593
|
A | G | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.745-2755A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18592593 | ||||||
chrX:18592975
|
G | A | 1 | a0001c0001t0009g0134 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.745-2373G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18592975 | ||||||
chrX:18594204
|
G | A | 2 | a0001c0001t0021g0111a0001c0001t0021g0112 | 2 | HG01884.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.745-1144G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18594204 | ||||||
chrX:18594486
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.745-862A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18594486 | ||||||
chrX:18594686
|
A | G | 3 | a0001c0001t0007g0019a0001c0001t0041g0138a0001c0001t0042g0178 | 3 | NA19005.hp1 NA19077.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.745-662A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18594686 | ||||||
chrX:18594876
|
G | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.745-472G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18594876 | ||||||
chrX:18595043
|
G | A | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.745-305G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18595043 | ||||||
chrX:18595082
|
T | C | 1 | a0001c0001t0013g0013 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.745-266T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18595082 | ||||||
chrX:18595191
|
C | CA | 2 | a0001c0001t0019g0028a0001c0001t0019g0037 | 2 | NA18940.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.745-148dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | 18595191 | |||||
chrX:18595206
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.745-142A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18595206 | ||||||
chrX:18595598
|
A | G | 2 | a0001c0001t0001g0080a0001c0001t0051g0018 | 2 | HG02723.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.825+170A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18595598 | ||||||
chrX:18595608
|
G | A | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.825+180G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18595608 | ||||||
chrX:18595724
|
A | G | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.825+296A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18595724 | ||||||
chrX:18595930
|
T | TA | 1 | a0001c0001t0005g0011 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.825+503dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18595930 | |||||
chrX:18596062
|
C | T | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.825+634C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596062 | ||||||
chrX:18596205
|
T | A | 1 | a0001c0001t0005g0106 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.825+777T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596205 | ||||||
chrX:18596308
|
T | C | 1 | a0001c0001t0001g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.825+880T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596308 | ||||||
chrX:18596871
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0003g0100 | 2 | HG02630.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.825+1443C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596871 | ||||||
chrX:18596909
|
A | T | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.825+1481A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596909 | ||||||
chrX:18597012
|
CAGTT | C | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.826-1448_826-1445d others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597012 | |||||
chrX:18597216
|
G | GT | 1 | a0001c0001t0027g0167 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.826-1240dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597216 | |||||
chrX:18597591
|
A | AT | 23 | a0001c0001t0001g0044a0001c0001t0001g0048a0001c0001t0001g0094others(20): Show | 23 | HG00621.hp1 HG01109.hp1 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.826-846dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597591 | |||||
chrX:18597591
|
A | ATT | 25 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0176others(22): Show | 25 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.826-847_826-846dup others(2): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597591 | |||||
chrX:18597591
|
A | ATTT | 9 | a0001c0001t0004g0171a0001c0001t0004g0186a0001c0001t0010g0173others(6): Show | 9 | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.826-848_826-846dup others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597591 | |||||
chrX:18597591
|
AT | A | 4 | a0001c0001t0014g0103a0001c0001t0016g0117a0001c0001t0023g0021others(1): Show | 4 | HG02717.hp1 HG02735.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.826-846delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18597591 | |||||
chrX:18597796
|
G | A | 5 | a0001c0001t0012g0001a0001c0001t0061g0005a0001c0002t0012g0002others(2): Show | 5 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.826-666G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18597796 | ||||||
chrX:18598065
|
G | A | 4 | a0001c0001t0004g0191a0001c0001t0004g0192a0001c0001t0022g0064others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.826-397G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18598065 | ||||||
chrX:18598316
|
CT | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.826-135delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chrX | 18598316 | |||||
chrX:18598714
|
G | C | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.977+101G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18598714 | ||||||
chrX:18599091
|
TA | T | 1 | a0001c0001t0004g0171 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.977+480delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 18599091 | |||||
chrX:18599104
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.977+491G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18599104 | ||||||
chrX:18599570
|
C | T | 1 | a0001c0001t0002g0146 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.977+957C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18599570 | ||||||
chrX:18599762
|
A | G | 1 | a0001c0001t0022g0064 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.977+1149A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18599762 | ||||||
chrX:18599801
|
T | G | 69 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(66): Show | 69 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.977+1188T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18599801 | ||||||
chrX:18600414
|
G | A | 1 | a0001c0001t0009g0133 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.977+1801G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18600414 | ||||||
chrX:18600569
|
T | C | 1 | a0001c0001t0043g0045 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.977+1956T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18600569 | ||||||
chrX:18600597
|
T | A | 1 | a0001c0001t0020g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.977+1984T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18600597 | ||||||
chrX:18601067
|
C | A | 1 | a0001c0001t0014g0091 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.977+2454C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18601067 | ||||||
chrX:18601115
|
T | C | 2 | a0001c0001t0001g0080a0001c0001t0051g0018 | 2 | HG02723.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.977+2502T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18601115 | ||||||
chrX:18601249
|
G | A | 2 | a0001c0001t0005g0075a0001c0001t0005g0076 | 2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.977+2636G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18601249 | ||||||
chrX:18601317
|
A | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.978-2585A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18601317 | ||||||
chrX:18601936
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.978-1966G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18601936 | ||||||
chrX:18602402
|
A | T | 1 | a0001c0001t0002g0107 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.978-1500A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18602402 | ||||||
chrX:18602475
|
C | T | 3 | a0001c0001t0015g0188a0001c0001t0029g0181a0001c0001t0063g0006 | 3 | HG00597.hp2 NA18944.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.978-1427C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18602475 | ||||||
chrX:18602493
|
AT | A | 191 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0043others(188): Show | 191 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(188): Show |
intron_variant | MODIFIER | c.978-1405delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | 18602493 | |||||
chrX:18602734
|
C | T | 1 | a0001c0001t0002g0142 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.978-1168C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18602734 | ||||||
chrX:18603372
|
T | G | 4 | a0001c0001t0014g0103a0001c0001t0022g0064a0001c0001t0022g0065others(1): Show | 4 | HG02451.hp1 HG02717.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.978-530T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18603372 | ||||||
chrX:18604961
|
A | AT | 15 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(12): Show | 15 | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.1944+93_1944+94ins others(1): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18604961 | ||||||
chrX:18604981
|
T | G | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.1944+113T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18604981 | ||||||
chrX:18605104
|
C | CT | 3 | a0001c0001t0003g0022a0001c0001t0005g0075a0001c0001t0005g0076 | 3 | HG01515.hp1 HG01517.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1944+247dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18605104 | |||||
chrX:18605338
|
A | T | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1944+470A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18605338 | ||||||
chrX:18606174
|
T | TCA | 16 | a0001c0001t0001g0046a0001c0001t0001g0050a0001c0001t0001g0162others(13): Show | 16 | HG00544.hp1 HG01943.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.1944+1341_1944+134 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
T | TCACA | 3 | a0001c0001t0001g0143a0001c0001t0017g0145a0001c0001t0025g0030 | 3 | HG02145.hp1 NA18965.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1944+1339_1944+134 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
T | TCACACA | 3 | a0001c0001t0034g0015a0001c0001t0035g0148a0001c0001t0061g0005 | 3 | HG01884.hp2 HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1944+1337_1944+134 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
T | TCACACAC others(3): Show |
2 | a0001c0002t0012g0002a0001c0002t0032g0003 | 2 | HG02293.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1944+1333_1944+134 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
T | TCACACAC others(5): Show |
2 | a0001c0001t0012g0001a0001c0002t0012g0004 | 2 | HG01070.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.1944+1331_1944+134 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
TCA | T | 33 | a0001c0001t0001g0072a0001c0001t0001g0122a0001c0001t0002g0035others(30): Show | 33 | HG00597.hp2 HG00673.hp1 HG01257.hp2 others(30): Show |
intron_variant | MODIFIER | c.1944+1341_1944+134 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
TCACA | T | 20 | a0001c0001t0001g0043a0001c0001t0001g0089a0001c0001t0001g0093others(17): Show | 20 | HG01070.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1944+1339_1944+134 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606174
|
TCACACAC others(7): Show |
T | 5 | a0001c0001t0001g0057a0001c0001t0001g0130a0001c0001t0008g0118others(2): Show | 5 | HG00642.hp1 NA18941.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.1944+1329_1944+134 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606174 | |||||
chrX:18606207
|
CACA | C | 1 | a0001c0001t0050g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1944+1341_1944+134 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606207 | |||||
chrX:18606207
|
CACAA | C | 1 | a0001c0001t0003g0125 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1944+1343_1944+134 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606207 | |||||
chrX:18606209
|
CA | C | 2 | a0001c0001t0004g0176a0001c0001t0011g0180 | 2 | HG00544.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1944+1344delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606209 | |||||
chrX:18606210
|
A | AC | 1 | a0001c0001t0001g0115 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1944+1342_1944+134 others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606210 | ||||||
chrX:18606210
|
A | ACACAC | 1 | a0001c0001t0017g0123 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1944+1342_1944+134 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606210 | ||||||
chrX:18606210
|
AAACAC | A | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1944+1344_1944+134 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | 18606210 | |||||
chrX:18606216
|
A | C | 1 | a0001c0001t0001g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1944+1348A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606216 | ||||||
chrX:18606352
|
G | T | 1 | a0001c0001t0009g0132 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1944+1484G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606352 | ||||||
chrX:18606506
|
A | G | 53 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(50): Show | 53 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1944+1638A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606506 | ||||||
chrX:18606594
|
G | A | 1 | a0001c0002t0012g0004 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1944+1726G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606594 | ||||||
chrX:18606882
|
C | T | 1 | a0001c0001t0003g0070 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1945-1929C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18606882 | ||||||
chrX:18607701
|
A | G | 2 | a0001c0001t0001g0136a0001c0001t0001g0137 | 2 | HG01256.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.1945-1110A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607701 | ||||||
chrX:18607705
|
A | G | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1945-1106A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607705 | ||||||
chrX:18607715
|
G | T | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1945-1096G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607715 | ||||||
chrX:18607753
|
A | G | 1 | a0001c0001t0001g0080 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1945-1058A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607753 | ||||||
chrX:18607810
|
G | C | 1 | a0001c0001t0002g0163 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1945-1001G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607810 | ||||||
chrX:18607868
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1945-943G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607868 | ||||||
chrX:18607957
|
T | C | 1 | a0001c0001t0003g0066 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1945-854T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18607957 | ||||||
chrX:18608106
|
G | A | 53 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(50): Show | 53 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1945-705G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18608106 | ||||||
chrX:18608508
|
A | G | 1 | a0001c0001t0009g0132 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1945-303A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18608508 | ||||||
chrX:18608643
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1945-168T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18608643 | ||||||
chrX:18608687
|
T | G | 1 | a0001c0001t0021g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1945-124T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 12/17 | chrX | 18608687 | ||||||
chrX:18608991
|
G | A | 8 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(5): Show | 8 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.2046+79G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 13/17 | chrX | 18608991 | ||||||
chrX:18609020
|
T | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2046+108T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 13/17 | chrX | 18609020 | ||||||
chrX:18609220
|
C | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2047-245C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 13/17 | chrX | 18609220 | ||||||
chrX:18609657
|
G | A | 1 | a0001c0001t0057g0153 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2152+87G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18609657 | ||||||
chrX:18609742
|
C | A | 26 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.2152+172C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18609742 | ||||||
chrX:18609765
|
G | A | 1 | a0001c0001t0055g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2152+195G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18609765 | ||||||
chrX:18609996
|
T | A | 1 | a0001c0001t0019g0037 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2152+426T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18609996 | ||||||
chrX:18610027
|
G | A | 1 | a0001c0001t0002g0163 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2152+457G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610027 | ||||||
chrX:18610194
|
GC | G | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.2152+627delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18610194 | |||||
chrX:18610209
|
T | C | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2152+639T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610209 | ||||||
chrX:18610456
|
T | C | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2152+886T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610456 | ||||||
chrX:18610577
|
T | C | 6 | a0001c0001t0012g0001a0001c0001t0034g0015a0001c0001t0035g0148others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.2152+1007T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610577 | ||||||
chrX:18610678
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2152+1108A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610678 | ||||||
chrX:18610958
|
G | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2152+1388G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610958 | ||||||
chrX:18611087
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2152+1517G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18611087 | ||||||
chrX:18611118
|
C | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2152+1548C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18611118 | ||||||
chrX:18611152
|
C | T | 1 | a0001c0001t0048g0124 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2152+1582C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18611152 | ||||||
chrX:18611292
|
G | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2152+1722G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18611292 | ||||||
chrX:18611439
|
C | CA | 2 | a0001c0001t0003g0100a0001c0001t0056g0144 | 2 | HG03225.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2153-1696dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18611439 | |||||
chrX:18611439
|
C | CAA | 5 | a0001c0001t0001g0162a0001c0001t0002g0158a0001c0001t0002g0160others(2): Show | 5 | HG00597.hp1 NA18961.hp1 NA19079.hp1 others(2): Show |
intron_variant | MODIFIER | c.2153-1697_2153-169 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18611439 | |||||
chrX:18611439
|
CA | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2153-1696delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18611439 | |||||
chrX:18611634
|
AAGTT | A | 1 | a0001c0001t0002g0107 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2153-1510_2153-150 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18611634 | |||||
chrX:18611681
|
C | CA | 1 | a0001c0001t0040g0116 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2153-1462dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18611681 | |||||
chrX:18611922
|
T | C | 2 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.2153-1230T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18611922 | ||||||
chrX:18612089
|
A | G | 1 | a0001c0001t0005g0073 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2153-1063A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612089 | ||||||
chrX:18612217
|
A | G | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2153-935A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612217 | ||||||
chrX:18612653
|
T | TA | 1 | a0001c0001t0007g0019 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2153-484dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18612653 | |||||
chrX:18612653
|
TA | T | 2 | a0001c0001t0002g0189a0001c0001t0051g0018 | 2 | HG02895.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2153-484delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18612653 | |||||
chrX:18612667
|
A | AG | 3 | a0001c0001t0014g0103a0001c0001t0022g0065a0001c0001t0023g0021 | 3 | HG02451.hp1 HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2153-485_2153-484i others(3): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612667 | ||||||
chrX:18612667
|
A | G | 1 | a0001c0001t0022g0064 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2153-485A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612667 | ||||||
chrX:18612668
|
AG | A | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2153-483delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612668 | ||||||
chrX:18612669
|
G | A | 5 | a0001c0001t0037g0155a0001c0001t0061g0005a0001c0002t0012g0002others(2): Show | 5 | HG01070.hp1 HG01884.hp2 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.2153-483G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612669 | ||||||
chrX:18612917
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-235G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612917 | ||||||
chrX:18612952
|
G | A | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2153-200G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612952 | ||||||
chrX:18613093
|
T | TA | 10 | a0001c0001t0001g0057a0001c0001t0001g0080a0001c0001t0003g0100others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.2153-38dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18613093 | |||||
chrX:18613093
|
TA | T | 1 | a0001c0001t0040g0116 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2153-38delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chrX | 18613093 | |||||
chrX:18613110
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2153-42A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18613110 | ||||||
chrX:18613410
|
GA | G | 2 | a0001c0001t0001g0089a0001c0001t0001g0093 | 2 | HG03453.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2276+139delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18613410 | |||||
chrX:18613510
|
A | G | 9 | a0001c0001t0004g0182a0001c0001t0004g0183a0001c0001t0004g0184others(6): Show | 9 | HG00597.hp2 HG02165.hp1 NA18944.hp1 others(6): Show |
intron_variant | MODIFIER | c.2276+235A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18613510 | ||||||
chrX:18613631
|
G | C | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2276+356G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18613631 | ||||||
chrX:18613914
|
G | A | 1 | a0001c0001t0001g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2276+639G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18613914 | ||||||
chrX:18614099
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2276+824C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614099 | ||||||
chrX:18614237
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2276+962G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614237 | ||||||
chrX:18614568
|
G | A | 25 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(22): Show | 25 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.2276+1293G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614568 | ||||||
chrX:18614574
|
G | A | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2276+1299G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614574 | ||||||
chrX:18614739
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2276+1464A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614739 | ||||||
chrX:18614829
|
A | G | 1 | a0001c0001t0004g0166 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.2276+1554A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18614829 | ||||||
chrX:18615026
|
G | A | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2276+1751G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18615026 | ||||||
chrX:18615618
|
A | G | 1 | a0001c0001t0002g0160 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2276+2343A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18615618 | ||||||
chrX:18615776
|
T | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2276+2501T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18615776 | ||||||
chrX:18615864
|
A | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2276+2589A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18615864 | ||||||
chrX:18615980
|
T | C | 1 | a0001c0001t0039g0063 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2276+2705T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18615980 | ||||||
chrX:18616093
|
A | C | 1 | a0001c0001t0019g0037 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2276+2818A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18616093 | ||||||
chrX:18616624
|
T | TA | 1 | a0001c0001t0002g0169 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2277-3229dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18616624 | |||||
chrX:18616624
|
TA | T | 6 | a0001c0001t0001g0136a0001c0001t0004g0166a0001c0001t0014g0012others(3): Show | 6 | HG01070.hp2 HG01071.hp2 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.2277-3229delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18616624 | |||||
chrX:18616647
|
T | C | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2277-3220T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18616647 | ||||||
chrX:18616767
|
C | T | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2277-3100C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18616767 | ||||||
chrX:18616820
|
C | T | 4 | a0001c0001t0006g0149a0001c0001t0006g0150a0001c0001t0006g0151others(1): Show | 4 | HG01109.hp1 HG02109.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2277-3047C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18616820 | ||||||
chrX:18617033
|
CTTTTA | C | 1 | a0001c0001t0002g0105 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2277-2829_2277-282 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18617033 | |||||
chrX:18617233
|
G | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2277-2634G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617233 | ||||||
chrX:18617348
|
T | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2277-2519T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617348 | ||||||
chrX:18617408
|
G | A | 2 | a0001c0001t0008g0118a0001c0001t0008g0120 | 2 | HG00642.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2277-2459G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617408 | ||||||
chrX:18617726
|
C | T | 1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2277-2141C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617726 | ||||||
chrX:18617840
|
A | G | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2277-2027A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617840 | ||||||
chrX:18617937
|
A | C | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2277-1930A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617937 | ||||||
chrX:18618228
|
CT | C | 1 | a0001c0001t0060g0092 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2277-1636delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18618228 | |||||
chrX:18618339
|
G | A | 4 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2277-1528G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18618339 | ||||||
chrX:18618397
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2277-1470C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18618397 | ||||||
chrX:18618846
|
A | G | 1 | a0001c0001t0028g0175 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2277-1021A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18618846 | ||||||
chrX:18618878
|
A | G | 1 | a0001c0001t0003g0066 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2277-989A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18618878 | ||||||
chrX:18619150
|
G | A | 3 | a0001c0002t0012g0002a0001c0002t0012g0004a0001c0002t0032g0003 | 3 | HG01070.hp1 HG02293.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2277-717G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18619150 | ||||||
chrX:18619157
|
C | CT | 10 | a0001c0001t0003g0055a0001c0001t0005g0068a0001c0001t0009g0133others(7): Show | 10 | HG01884.hp1 HG01884.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.2277-692dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18619157 | |||||
chrX:18619157
|
C | CTT | 2 | a0001c0001t0009g0132a0001c0001t0021g0112 | 2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2277-693_2277-692d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18619157 | |||||
chrX:18619157
|
CT | C | 3 | a0001c0001t0001g0130a0001c0001t0007g0009a0001c0001t0016g0117 | 3 | HG03654.hp1 NA18941.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.2277-692delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chrX | 18619157 | |||||
chrX:18619214
|
A | G | 1 | a0001c0001t0002g0139 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2277-653A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18619214 | ||||||
chrX:18619803
|
T | G | 1 | a0001c0006t0002g0007 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2277-64T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18619803 | ||||||
chrX:18620084
|
T | A | 131 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(128): Show | 131 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(128): Show |
intron_variant | MODIFIER | c.2376+118T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18620084 | ||||||
chrX:18620124
|
A | G | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2376+158A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18620124 | ||||||
chrX:18620359
|
AC | A | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2376+395delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18620359 | |||||
chrX:18620498
|
C | T | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2376+532C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18620498 | ||||||
chrX:18620768
|
G | C | 24 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(21): Show | 24 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.2376+802G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18620768 | ||||||
chrX:18621017
|
C | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2376+1051C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621017 | ||||||
chrX:18621051
|
G | A | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2376+1085G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621051 | ||||||
chrX:18621228
|
A | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2376+1262A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621228 | ||||||
chrX:18621303
|
G | T | 1 | a0001c0001t0004g0185 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2376+1337G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621303 | ||||||
chrX:18621441
|
C | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2376+1475C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621441 | ||||||
chrX:18621541
|
G | GT | 2 | a0001c0001t0004g0186a0001c0001t0005g0068 | 2 | NA18960.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.2376+1584dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18621541 | |||||
chrX:18621541
|
G | T | 1 | a0001c0001t0021g0112 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2376+1575G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621541 | ||||||
chrX:18621584
|
A | G | 2 | a0001c0001t0002g0023a0001c0001t0002g0034 | 2 | HG00609.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.2376+1618A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621584 | ||||||
chrX:18621838
|
T | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2376+1872T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18621838 | ||||||
chrX:18622190
|
A | G | 2 | a0001c0001t0001g0143a0001c0001t0002g0049 | 2 | HG02145.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2376+2224A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18622190 | ||||||
chrX:18622450
|
G | A | 1 | a0001c0001t0038g0131 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2376+2484G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18622450 | ||||||
chrX:18622631
|
G | T | 8 | a0001c0001t0002g0078a0001c0001t0003g0077a0001c0001t0003g0083others(5): Show | 8 | NA18945.hp1 NA18948.hp1 NA18955.hp1 others(5): Show |
intron_variant | MODIFIER | c.2377-2497G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18622631 | ||||||
chrX:18622719
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2377-2409G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18622719 | ||||||
chrX:18623038
|
CA | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2377-2081delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18623038 | |||||
chrX:18623833
|
C | CT | 6 | a0001c0001t0002g0036a0001c0001t0012g0001a0001c0001t0037g0155others(3): Show | 6 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.2377-1281dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18623833 | |||||
chrX:18623833
|
CT | C | 10 | a0001c0001t0001g0046a0001c0001t0009g0132a0001c0001t0009g0134others(7): Show | 10 | HG01070.hp2 HG01071.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.2377-1281delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18623833 | |||||
chrX:18623918
|
T | TC | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-1207dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18623918 | |||||
chrX:18624098
|
CT | C | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-1027delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18624098 | |||||
chrX:18624157
|
GC | G | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-969delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18624157 | |||||
chrX:18624182
|
A | T | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2377-946A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18624182 | ||||||
chrX:18624374
|
CT | C | 1 | a0001c0001t0004g0177 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.2377-749delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18624374 | |||||
chrX:18624692
|
TG | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-434delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18624692 | |||||
chrX:18624745
|
GT | G | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-379delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18624745 | |||||
chrX:18624886
|
C | A | 4 | a0001c0001t0001g0130a0001c0001t0008g0118a0001c0001t0008g0120others(1): Show | 4 | HG00642.hp1 NA18941.hp1 NA19006.hp1 others(1): Show |
intron_variant | MODIFIER | c.2377-242C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18624886 | ||||||
chrX:18624887
|
A | G | 4 | a0001c0001t0014g0012a0001c0001t0024g0095a0001c0001t0024g0096others(1): Show | 4 | HG01070.hp2 HG01071.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2377-241A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18624887 | ||||||
chrX:18625025
|
GT | G | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2377-100delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chrX | 18625025 | |||||
chrX:18625337
|
T | C | 1 | a0001c0001t0045g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.2496+90T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18625337 | ||||||
chrX:18625342
|
A | G | 1 | a0001c0001t0001g0044 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2496+95A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18625342 | ||||||
chrX:18625403
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2496+156C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18625403 | ||||||
chrX:18625562
|
T | A | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2496+315T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18625562 | ||||||
chrX:18625698
|
T | A | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2496+451T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18625698 | ||||||
chrX:18625920
|
GT | G | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2496+679delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18625920 | |||||
chrX:18626066
|
G | GT | 22 | a0001c0001t0001g0057a0001c0001t0001g0090a0001c0001t0002g0035others(19): Show | 22 | HG01070.hp1 HG01884.hp1 HG02293.hp2 others(19): Show |
intron_variant | MODIFIER | c.2496+836dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626066 | |||||
chrX:18626066
|
GT | G | 6 | a0001c0001t0002g0038a0001c0001t0004g0166a0001c0001t0009g0135others(3): Show | 6 | HG01069.hp1 HG01106.hp1 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.2496+836delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626066 | |||||
chrX:18626217
|
AC | A | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2496+972delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626217 | |||||
chrX:18626228
|
TG | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2496+983delG | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626228 | |||||
chrX:18626351
|
G | A | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2496+1104G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626351 | ||||||
chrX:18626591
|
T | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2496+1344T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626591 | ||||||
chrX:18626659
|
G | GCT | 1 | a0001c0001t0002g0036 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2496+1413_2496+141 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626659 | |||||
chrX:18626660
|
CCCTCTCT others(2): Show |
C | 1 | a0001c0001t0002g0169 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2496+1415_2496+142 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626660 | |||||
chrX:18626660
|
CCCTCTCT others(6): Show |
C | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2496+1415_2496+142 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626660 | |||||
chrX:18626661
|
C | CCT | 12 | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0002g0038others(9): Show | 12 | HG00140.hp1 HG00280.hp1 HG01069.hp1 others(9): Show |
intron_variant | MODIFIER | c.2496+1476_2496+147 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCT | 12 | a0001c0001t0002g0023a0001c0001t0002g0031a0001c0001t0002g0033others(9): Show | 12 | HG01071.hp1 HG01167.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.2496+1474_2496+147 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCT | 3 | a0001c0001t0001g0115a0001c0001t0002g0128a0001c0001t0005g0011 | 3 | HG01358.hp1 HG01517.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2496+1472_2496+147 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(1): Show |
8 | a0001c0001t0001g0029a0001c0001t0001g0072a0001c0001t0002g0119others(5): Show | 8 | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.2496+1470_2496+147 others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(3): Show |
5 | a0001c0001t0001g0122a0001c0001t0001g0136a0001c0001t0002g0010others(2): Show | 5 | HG01256.hp1 HG02027.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.2496+1468_2496+147 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(5): Show |
8 | a0001c0001t0001g0140a0001c0001t0001g0164a0001c0001t0013g0013others(5): Show | 8 | HG01243.hp1 HG02523.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.2496+1466_2496+147 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(7): Show |
4 | a0001c0001t0001g0137a0001c0001t0002g0146a0001c0001t0002g0157others(1): Show | 4 | HG01433.hp1 HG02132.hp1 NA18943.hp1 others(1): Show |
intron_variant | MODIFIER | c.2496+1464_2496+147 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(9): Show |
4 | a0001c0001t0002g0156a0001c0001t0002g0160a0001c0001t0022g0065others(1): Show | 4 | HG02451.hp1 HG02738.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.2496+1462_2496+147 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(13): Show |
1 | a0001c0001t0022g0064 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2496+1458_2496+147 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(15): Show |
2 | a0001c0001t0013g0159a0001c0006t0002g0007 | 2 | HG00597.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.2496+1456_2496+147 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CCTCTCTC others(25): Show |
1 | a0001c0001t0023g0021 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2496+1446_2496+147 others(36): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
C | CTCTCTCT others(6): Show |
1 | a0001c0001t0016g0117 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2496+1414_2496+141 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626661 | ||||||
chrX:18626661
|
C | T | 1 | a0001c0001t0002g0036 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2496+1414C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626661 | ||||||
chrX:18626661
|
CCT | C | 2 | a0001c0001t0015g0187a0001c0001t0053g0127 | 2 | HG01074.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.2496+1476_2496+147 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCT | C | 3 | a0001c0001t0001g0084a0001c0001t0009g0133a0001c0001t0014g0091 | 3 | HG02622.hp2 HG03130.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2496+1474_2496+147 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCT | C | 7 | a0001c0001t0002g0158a0001c0001t0002g0161a0001c0001t0002g0190others(4): Show | 7 | HG03471.hp1 NA18522.hp1 NA18906.hp1 others(4): Show |
intron_variant | MODIFIER | c.2496+1472_2496+147 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(1): Show |
C | 8 | a0001c0001t0001g0025a0001c0001t0003g0055a0001c0001t0004g0191others(5): Show | 8 | HG00597.hp2 HG01257.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.2496+1470_2496+147 others(12): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(3): Show |
C | 6 | a0001c0001t0001g0043a0001c0001t0001g0090a0001c0001t0002g0189others(3): Show | 6 | HG01070.hp1 HG01258.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2496+1468_2496+147 others(14): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(5): Show |
C | 9 | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0005g0068others(6): Show | 9 | HG01106.hp1 HG01934.hp1 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.2496+1466_2496+147 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(7): Show |
C | 16 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0089others(13): Show | 16 | HG00621.hp1 HG01099.hp1 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.2496+1464_2496+147 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(9): Show |
C | 22 | a0001c0001t0001g0057a0001c0001t0001g0081a0001c0001t0001g0093others(19): Show | 22 | HG00544.hp1 HG01943.hp1 HG01952.hp1 others(19): Show |
intron_variant | MODIFIER | c.2496+1462_2496+147 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(11): Show |
C | 1 | a0001c0001t0005g0053 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2496+1460_2496+147 others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(13): Show |
C | 1 | a0001c0001t0056g0144 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2496+1458_2496+147 others(24): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626661
|
CCTCTCTC others(15): Show |
C | 1 | a0001c0001t0001g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2496+1456_2496+147 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626661 | |||||
chrX:18626663
|
T | TCC | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2496+1417_2496+141 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626663 | |||||
chrX:18626701
|
TCTCTCTC others(8): Show |
T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2496+1455_2496+146 others(19): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626701 | ||||||
chrX:18626706
|
CTCTCTCT others(10): Show |
C | 1 | a0001c0001t0008g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2496+1460_2496+147 others(21): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626706 | ||||||
chrX:18626708
|
CTCTCTCT others(6): Show |
C | 1 | a0001c0001t0004g0184 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2496+1462_2496+147 others(17): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626708 | ||||||
chrX:18626712
|
CTCTCTCT others(2): Show |
C | 1 | a0001c0001t0033g0168 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2496+1466_2496+147 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626712 | ||||||
chrX:18626712
|
CTCTCTCT others(4): Show |
C | 4 | a0001c0001t0004g0176a0001c0001t0004g0183a0001c0001t0015g0188others(1): Show | 4 | HG00544.hp2 HG02165.hp1 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.2496+1466_2496+147 others(15): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626712 | ||||||
chrX:18626713
|
TCTCTCTC others(5): Show |
T | 1 | a0001c0002t0032g0003 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2496+1468_2496+147 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626713 | |||||
chrX:18626714
|
CTCTCTCT | C | 6 | a0001c0001t0004g0166a0001c0001t0004g0185a0001c0001t0004g0186others(3): Show | 6 | HG02523.hp1 HG04184.hp2 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.2496+1468_2496+147 others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626714 | ||||||
chrX:18626714
|
CTCTCTCT others(2): Show |
C | 2 | a0001c0001t0010g0170a0001c0001t0028g0175 | 2 | HG01255.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.2496+1468_2496+147 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626714 | ||||||
chrX:18626716
|
CTCTCT | C | 2 | a0001c0001t0004g0182a0004c0003t0036g0008 | 2 | NA18974.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.2496+1470_2496+147 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626716 | ||||||
chrX:18626716
|
CTCTCTCT | C | 1 | a0001c0001t0004g0171 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2496+1470_2496+147 others(11): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626716 | ||||||
chrX:18626718
|
CTCT | C | 2 | a0001c0001t0004g0165a0001c0001t0011g0179 | 2 | HG02074.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2496+1472_2496+147 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626718 | ||||||
chrX:18626719
|
T | C | 2 | a0001c0001t0002g0189a0001c0001t0002g0190 | 2 | HG03471.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2496+1472T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626719 | ||||||
chrX:18626720
|
CT | C | 1 | a0001c0001t0011g0180 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2496+1474delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626720 | ||||||
chrX:18626720
|
CTCT | C | 1 | a0001c0001t0001g0044 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2496+1474_2496+147 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626720 | ||||||
chrX:18626721
|
T | C | 3 | a0001c0001t0010g0172a0001c0001t0015g0187a0001c0001t0057g0153 | 3 | HG02572.hp1 HG03927.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2496+1474T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626721 | ||||||
chrX:18626721
|
T | TCCCC | 1 | a0001c0001t0011g0085 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2496+1475_2496+147 others(8): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626721 | |||||
chrX:18626722
|
CT | C | 1 | a0001c0001t0044g0016 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2496+1476delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626722 | ||||||
chrX:18626723
|
T | C | 25 | a0001c0001t0003g0022a0001c0001t0004g0165a0001c0001t0004g0166others(22): Show | 25 | HG00597.hp2 HG00673.hp1 HG01257.hp2 others(22): Show |
intron_variant | MODIFIER | c.2496+1476T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626723 | ||||||
chrX:18626723
|
T | TCTCCCC | 1 | a0001c0001t0006g0154 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(10): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626723
|
T | TCTCTCTC others(2): Show |
1 | a0001c0001t0003g0100 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(13): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626723
|
T | TCTCTCTC others(5): Show |
1 | a0001c0001t0006g0152 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(16): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626723
|
T | TCTCTCTC others(7): Show |
2 | a0001c0001t0006g0149a0001c0001t0006g0151 | 2 | HG01109.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2496+1477_2496+147 others(18): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626723
|
T | TCTCTCTC others(9): Show |
1 | a0001c0001t0006g0150 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(20): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626723
|
TCC | T | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2496+1481_2496+148 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626723 | |||||
chrX:18626724
|
C | CTCTCT | 1 | a0001c0001t0001g0104 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(9): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626724 | ||||||
chrX:18626724
|
C | CTCTCTCT others(8): Show |
1 | a0001c0001t0001g0162 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.2496+1477_2496+147 others(19): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626724 | ||||||
chrX:18626725
|
C | T | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2496+1478C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626725 | ||||||
chrX:18626727
|
C | T | 1 | a0001c0001t0012g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2496+1480C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626727 | ||||||
chrX:18626728
|
C | T | 7 | a0001c0001t0001g0044a0001c0001t0003g0022a0001c0001t0005g0076others(4): Show | 7 | HG01070.hp1 HG01517.hp1 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.2496+1481C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626728 | ||||||
chrX:18626730
|
T | C | 12 | a0001c0001t0004g0171a0001c0001t0004g0176a0001c0001t0004g0177others(9): Show | 12 | HG00544.hp2 HG00597.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.2496+1483T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626730 | ||||||
chrX:18626732
|
T | C | 1 | a0001c0001t0015g0188 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2496+1485T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626732 | ||||||
chrX:18626733
|
CT | C | 18 | a0001c0001t0003g0022a0001c0001t0004g0165a0001c0001t0004g0166others(15): Show | 18 | HG00597.hp2 HG00673.hp1 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.2496+1487delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626733 | ||||||
chrX:18626734
|
T | C | 6 | a0001c0001t0001g0044a0001c0001t0004g0186a0001c0001t0011g0085others(3): Show | 6 | HG02293.hp2 HG02698.hp1 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.2496+1487T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626734 | ||||||
chrX:18626734
|
T | TC | 46 | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0050others(43): Show | 46 | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.2496+1496dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626734 | |||||
chrX:18626734
|
T | TCTC | 1 | a0001c0001t0014g0012 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2496+1488_2496+148 others(7): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626734 | |||||
chrX:18626734
|
TC | T | 17 | a0001c0001t0001g0043a0001c0001t0001g0081a0001c0001t0001g0101others(14): Show | 17 | HG00544.hp2 HG01261.hp1 HG01517.hp2 others(14): Show |
intron_variant | MODIFIER | c.2496+1496delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626734 | |||||
chrX:18626743
|
C | CCT | 6 | a0001c0001t0001g0094a0001c0001t0001g0115a0001c0001t0001g0130others(3): Show | 6 | HG02258.hp1 HG02523.hp2 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.2496+1496_2496+149 others(6): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626743 | ||||||
chrX:18626743
|
C | T | 7 | a0001c0001t0001g0044a0001c0001t0004g0186a0001c0001t0011g0085others(4): Show | 7 | HG02293.hp2 HG02698.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.2496+1496C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626743 | ||||||
chrX:18626744
|
T | C | 14 | a0001c0001t0001g0044a0001c0001t0001g0094a0001c0001t0001g0115others(11): Show | 14 | HG02258.hp1 HG02293.hp2 HG02523.hp2 others(11): Show |
intron_variant | MODIFIER | c.2496+1497T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626744 | ||||||
chrX:18626744
|
T | TC | 3 | a0001c0001t0001g0162a0001c0001t0003g0066a0001c0001t0008g0054 | 3 | HG02293.hp1 HG03942.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.2496+1505dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626744 | |||||
chrX:18626744
|
TC | T | 1 | a0001c0001t0001g0143 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2496+1505delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626744 | |||||
chrX:18626857
|
TC | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2497-1511delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18626857 | |||||
chrX:18627193
|
G | A | 4 | a0001c0001t0001g0060a0001c0001t0005g0053a0001c0001t0005g0108others(1): Show | 4 | HG01099.hp1 HG01928.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.2497-1178G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627193 | ||||||
chrX:18627261
|
C | CA | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2497-1110_2497-110 others(5): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627261 | ||||||
chrX:18627376
|
A | AAG | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2497-995_2497-994i others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627376 | ||||||
chrX:18627439
|
A | G | 55 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(52): Show | 55 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.2497-932A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627439 | ||||||
chrX:18627546
|
C | G | 1 | a0001c0001t0004g0186 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2497-825C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627546 | ||||||
chrX:18627643
|
A | G | 1 | a0001c0001t0023g0040 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2497-728A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627643 | ||||||
chrX:18627679
|
AT | A | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2497-690delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627679 | |||||
chrX:18627774
|
T | TC | 1 | a0004c0003t0036g0008 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2497-592dupC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627774 | |||||
chrX:18627793
|
G | A | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2497-578G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627793 | ||||||
chrX:18627794
|
C | CA | 11 | a0001c0001t0002g0036a0001c0001t0002g0078a0001c0001t0002g0128others(8): Show | 11 | HG01358.hp1 HG01952.hp1 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.2497-559dupA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627794 | |||||
chrX:18627794
|
C | G | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2497-577C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627794 | ||||||
chrX:18627794
|
CA | C | 34 | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(31): Show | 34 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.2497-559delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627794 | |||||
chrX:18627794
|
CAA | C | 4 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.2497-560_2497-559d others(4): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627794 | |||||
chrX:18627795
|
A | C | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2497-576A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627795 | ||||||
chrX:18627923
|
T | G | 1 | a0001c0001t0013g0159 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2497-448T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627923 | ||||||
chrX:18628039
|
A | G | 2 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | HG02723.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.2497-332A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18628039 | ||||||
chrX:18628183
|
TC | T | 1 | a0003c0004t0026g0079 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.2497-186delC | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18628183 | |||||
chrX:18628237
|
T | A | 1 | a0001c0001t0037g0155 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2497-134T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18628237 | ||||||
chrX:18628267
|
C | T | 1 | a0001c0001t0061g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2497-104C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18628267 |