Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | 191 | 49 | 30 | 83 | 7 | 20 | 60 | CDKL5_chrX_18420608_18645196 | CDKL5 | MKIPN others(955): Show |
chrX | 18420608 | 18645196 |
| a0002 | 0/0 | 960 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | MKIPN others(955): Show |
chrX | 18420608 | 18645196 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2880 | 187 | 48 | 28 | 83 | 7 | 19 | CDKL5_chrX_18420608_18645196 | CDKL5 | ATGAA others(2875): Show |
chrX | 18420608 | 18645196 | ||
| a0001c0002 | 0/0 | 2880 | 3 | 1 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | ATGAA others(2875): Show |
chrX | 18420608 | 18645196 | ||
| a0001c0004 | 0/0 | 2880 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | ATGAA others(2875): Show |
chrX | 18420608 | 18645196 | ||
| a0002c0003 | 0/0 | 2880 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | ATGAA others(2875): Show |
chrX | 18420608 | 18645196 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 14569 | 34 | 8 | 6 | 14 | 0 | 6 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0002 | 0/0 | 14566 | 31 | 6 | 4 | 17 | 1 | 3 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0003 | 1/0 | 14572 | 15 | 2 | 3 | 6 | 1 | 2 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0004 | 0/0 | 14569 | 12 | 0 | 2 | 10 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0005 | 0/0 | 14575 | 12 | 1 | 3 | 4 | 3 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14570): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0006 | 0/0 | 14578 | 5 | 0 | 0 | 4 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14573): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0007 | 0/0 | 14575 | 5 | 4 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14570): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0008 | 0/0 | 14567 | 4 | 0 | 0 | 4 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14562): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0009 | 0/0 | 14563 | 4 | 2 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14558): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0010 | 0/0 | 14554 | 4 | 4 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14549): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0011 | 0/0 | 14569 | 4 | 4 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0012 | 0/0 | 14570 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14565): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0013 | 0/0 | 14563 | 3 | 0 | 0 | 3 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14558): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0014 | 0/0 | 14567 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14562): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0015 | 0/0 | 14570 | 3 | 0 | 0 | 2 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14565): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0016 | 0/0 | 14575 | 2 | 0 | 0 | 1 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14570): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0017 | 0/0 | 14569 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0018 | 0/0 | 14551 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14546): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0019 | 0/0 | 14573 | 2 | 0 | 0 | 2 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14568): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0020 | 0/0 | 14569 | 2 | 0 | 0 | 0 | 2 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0021 | 0/0 | 14572 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0022 | 0/0 | 14569 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0023 | 0/0 | 14566 | 2 | 2 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0024 | 0/0 | 14575 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14570): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0025 | 0/0 | 14572 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0026 | 0/0 | 14566 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0027 | 0/0 | 14563 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14558): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0028 | 0/0 | 14578 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14573): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0029 | 0/0 | 14572 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0030 | 0/0 | 14569 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0031 | 0/0 | 14566 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0033 | 0/0 | 14569 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0034 | 0/0 | 14573 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14568): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0035 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14565): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0036 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14565): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0037 | 0/0 | 14551 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14546): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0038 | 0/0 | 14569 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0039 | 0/0 | 14579 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14574): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0040 | 0/0 | 14576 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14571): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0041 | 0/0 | 14573 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14568): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0042 | 0/0 | 14569 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0043 | 0/0 | 14566 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0044 | 0/0 | 14564 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14559): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0045 | 0/0 | 14569 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0046 | 0/0 | 14575 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14570): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0047 | 0/0 | 14566 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0048 | 0/0 | 14578 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14573): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0049 | 0/0 | 14578 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14573): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0050 | 0/0 | 14569 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0051 | 0/0 | 14572 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0052 | 0/0 | 14572 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0053 | 0/1 | 14569 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14564): Show |
chrX | 18420608 | 18645196 |
| a0001c0001t0054 | 0/0 | 14572 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14567): Show |
chrX | 18420608 | 18645196 |
| a0001c0002t0014 | 0/0 | 14567 | 2 | 0 | 2 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14562): Show |
chrX | 18420608 | 18645196 |
| a0001c0002t0032 | 0/0 | 14570 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14565): Show |
chrX | 18420608 | 18645196 |
| a0001c0004t0002 | 0/0 | 14566 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| a0002c0003t0002 | 0/0 | 14566 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | AGTTG others(14561): Show |
chrX | 18420608 | 18645196 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0083 | 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 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0096 | 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 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0154 | 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 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0002g0167 | 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 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0082 | 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 |
| a0001c0001t0003g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0003g0128 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0004g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0004g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0004g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0004g0175 | 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 |
| a0001c0001t0004g0181 | 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 |
| 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 |
| a0001c0001t0005g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0005g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | 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 |
| a0001c0001t0005g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 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 |
| a0001c0001t0005g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0006g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0006g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0006g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0006g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0006g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0007g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0007g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0007g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0007g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0007g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0008g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0008g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0008g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0008g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0009g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0009g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0009g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0009g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0010g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0010g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0010g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0010g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0011g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0011g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0011g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0011g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0012g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0012g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0012g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0013g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0013g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0013g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0014g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0015g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0015g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0015g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0016g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0016g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0017g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0017g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0018g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0018g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0019g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0019g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0020g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0020g0124 | 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 |
| a0001c0001t0023g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0023g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0024g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0024g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0025g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0026g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0027g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0028g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0029g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0030g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0031g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0033g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0034g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0035g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0036g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0037g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0038g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0039g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0040g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0041g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0042g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0043g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0044g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0045g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0046g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0047g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0048g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0049g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0050g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0051g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0052g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0053g0092 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0001t0054g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0002t0014g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0002t0014g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0002t0032g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0001c0004t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| a0002c0003t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 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 | g0124 | EUR | GBR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00280 | hp1 | a0001 | c0001 | t0020 | g0119 | EUR | FIN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00544 | hp1 | a0001 | c0001 | t0015 | g0145 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00544 | hp2 | a0001 | c0001 | t0004 | g0175 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00597 | hp1 | a0001 | c0001 | t0008 | g0155 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00597 | hp2 | a0001 | c0001 | t0031 | g0188 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0028 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00642 | hp1 | a0001 | c0001 | t0009 | g0118 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00673 | hp1 | a0001 | c0001 | t0033 | g0166 | EAS | CHS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG00738 | hp1 | a0001 | c0001 | t0051 | g0051 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0033 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01070 | hp1 | a0001 | c0002 | t0014 | g0002 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01070 | hp2 | a0001 | c0001 | t0024 | g0093 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0073 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01071 | hp2 | a0001 | c0001 | t0024 | g0094 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01074 | hp1 | a0001 | c0001 | t0047 | g0125 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01099 | hp1 | a0001 | c0001 | t0003 | g0047 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01106 | hp1 | a0001 | c0001 | t0044 | g0014 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01109 | hp1 | a0001 | c0001 | t0007 | g0147 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01167 | hp1 | a0002 | c0003 | t0002 | g0127 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01192 | hp1 | a0001 | c0001 | t0003 | g0058 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PUR | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01255 | hp1 | a0001 | c0001 | t0027 | g0174 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0105 | 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 | g0108 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0126 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | CLM | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01515 | hp1 | a0001 | c0001 | t0005 | g0074 | EUR | IBS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01517 | hp1 | a0001 | c0001 | t0005 | g0075 | EUR | IBS | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01517 | hp2 | a0001 | c0001 | t0005 | g0008 | 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 | t0054 | g0005 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01928 | hp1 | a0001 | c0001 | t0005 | g0049 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01934 | hp1 | a0001 | c0001 | t0038 | 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 | g0057 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG01978 | hp2 | a0001 | c0001 | t0003 | g0123 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02055 | hp1 | a0001 | c0001 | t0009 | g0097 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02056 | hp1 | a0001 | c0001 | t0008 | g0021 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02074 | hp1 | a0001 | c0001 | t0004 | g0163 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02083 | hp1 | a0001 | c0001 | t0005 | g0107 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02129 | hp1 | a0001 | c0001 | t0002 | g0162 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02132 | hp1 | a0001 | c0001 | t0002 | g0143 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02135 | hp1 | a0001 | c0001 | t0040 | g0041 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0141 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02165 | hp1 | a0001 | c0001 | t0004 | g0182 | EAS | CDX | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0139 | EAS | CDX | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0019 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02293 | hp1 | a0001 | c0001 | t0009 | g0050 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02293 | hp2 | a0001 | c0002 | t0014 | g0003 | AMR | PEL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0055 | 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 | g0036 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02523 | hp1 | a0001 | c0001 | t0004 | g0164 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02523 | hp2 | a0001 | c0001 | t0008 | g0010 | EAS | KHV | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02572 | hp1 | a0001 | c0001 | t0011 | g0152 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0109 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0066 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02622 | hp2 | a0001 | c0001 | t0011 | g0091 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02630 | hp1 | a0001 | c0001 | t0014 | g0001 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02717 | hp1 | a0001 | c0001 | t0023 | g0015 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02723 | hp1 | a0001 | c0001 | t0034 | g0012 | 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 | t0043 | g0122 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02738 | hp1 | a0001 | c0001 | t0037 | g0130 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02895 | hp1 | a0001 | c0001 | t0045 | g0018 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02922 | hp1 | a0001 | c0001 | t0035 | g0146 | 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 | t0010 | g0134 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02976 | hp1 | a0001 | c0001 | t0002 | g0103 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02976 | hp2 | a0001 | c0002 | t0032 | g0004 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03017 | hp1 | a0001 | c0001 | t0005 | g0072 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03041 | hp1 | a0001 | c0001 | t0007 | g0151 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0045 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03098 | hp1 | a0001 | c0001 | t0010 | g0131 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03130 | hp1 | a0001 | c0001 | t0010 | g0132 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03139 | hp1 | a0001 | c0001 | t0049 | g0068 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03195 | hp1 | a0001 | c0001 | t0007 | g0149 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0106 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03209 | hp1 | a0001 | c0001 | t0036 | g0153 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03225 | hp1 | a0001 | c0001 | t0050 | g0142 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03453 | hp1 | a0001 | c0001 | t0007 | g0150 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | MSL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03490 | hp1 | a0001 | c0001 | t0003 | g0069 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0083 | 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 | t0011 | g0009 | AFR | ESN | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0095 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03540 | hp2 | a0001 | c0001 | t0011 | g0104 | AFR | GWD | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03654 | hp1 | a0001 | c0001 | t0015 | g0115 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0046 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0007 | SAS | PJL | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0113 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03927 | hp2 | a0001 | c0001 | t0016 | g0186 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG03942 | hp1 | a0001 | c0001 | t0003 | g0054 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG04115 | hp1 | a0001 | c0001 | t0006 | g0011 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0167 | SAS | BEB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG04184 | hp2 | a0001 | c0001 | t0030 | g0026 | 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 | t0042 | g0043 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG04228 | hp1 | a0001 | c0004 | t0002 | g0006 | SAS | STU | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18522 | hp1 | a0001 | c0001 | t0052 | g0070 | AFR | YRI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0158 | EAS | CHB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | CHB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18906 | hp1 | a0001 | c0001 | t0010 | g0133 | 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 | g0022 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18941 | hp2 | a0001 | c0001 | t0029 | g0172 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18944 | hp1 | a0001 | c0001 | t0028 | g0180 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0077 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18948 | hp1 | a0001 | c0001 | t0003 | g0082 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18952 | hp1 | a0001 | c0001 | t0019 | g0032 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18957 | hp1 | a0001 | c0001 | t0004 | g0176 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18957 | hp2 | a0001 | c0001 | t0006 | g0059 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18959 | hp1 | a0001 | c0001 | t0026 | g0165 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18960 | hp1 | a0001 | c0001 | t0005 | g0086 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18961 | hp1 | a0001 | c0001 | t0002 | g0157 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18965 | hp1 | a0001 | c0001 | t0002 | g0024 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18966 | hp1 | a0001 | c0001 | t0012 | g0171 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18970 | hp1 | a0001 | c0001 | t0002 | g0140 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18971 | hp1 | a0001 | c0001 | t0016 | g0187 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18974 | hp1 | a0001 | c0001 | t0025 | g0173 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18977 | hp1 | a0001 | c0001 | t0003 | g0061 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18982 | hp1 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18983 | hp1 | a0001 | c0001 | t0046 | g0085 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0027 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18986 | hp1 | a0001 | c0001 | t0003 | g0060 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18988 | hp1 | a0001 | c0001 | t0012 | g0168 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18989 | hp1 | a0001 | c0001 | t0008 | g0114 | 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 | g0030 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19000 | hp1 | a0001 | c0001 | t0041 | g0013 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0110 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19002 | hp2 | a0001 | c0001 | t0013 | g0178 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19004 | hp1 | a0001 | c0001 | t0013 | g0179 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19005 | hp1 | a0001 | c0001 | t0006 | g0035 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19006 | hp1 | a0001 | c0001 | t0015 | g0081 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19007 | hp1 | a0001 | c0001 | t0004 | g0181 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19012 | hp1 | a0001 | c0001 | t0005 | g0048 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0137 | 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 | g0121 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19060 | hp1 | a0001 | c0001 | t0048 | g0067 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19062 | hp1 | a0001 | c0001 | t0017 | g0144 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19063 | hp1 | a0001 | c0001 | t0004 | g0169 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19066 | hp1 | a0001 | c0001 | t0012 | g0170 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19068 | hp1 | a0001 | c0001 | t0004 | g0183 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19072 | hp1 | a0001 | c0001 | t0006 | g0020 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19077 | hp1 | a0001 | c0001 | t0006 | g0177 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19077 | hp2 | a0001 | c0001 | t0013 | g0084 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19079 | hp1 | a0001 | c0001 | t0002 | g0156 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0025 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19081 | hp2 | a0001 | c0001 | t0004 | g0184 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19082 | hp1 | a0001 | c0001 | t0002 | g0154 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19083 | hp1 | a0001 | c0001 | t0004 | g0185 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA19091 | hp1 | a0001 | c0001 | t0039 | g0062 | 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 | g0016 | EUR | TSI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0031 | EUR | TSI | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0117 | SAS | GIH | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02109 | hp1 | a0001 | c0001 | t0007 | g0148 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02109 | hp2 | a0001 | c0001 | t0018 | g0037 | AFR | ACB | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| HG02486 | hp1 | a0001 | c0001 | t0018 | g0038 | 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 | g0078 | EAS | JPT | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA20300 | hp1 | a0001 | c0001 | t0005 | g0053 | AFR | USA | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| NA20300 | hp2 | a0001 | c0001 | t0009 | g0116 | AFR | USA | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0053 | g0092 | REF | REF | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0003 | g0128 | REF | REF | CDKL5_chrX_18420608_18645196 | CDKL5 | chrX | 18420608 | 18645196 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18604691 | C | T | 1 | a0001c0004 | 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 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18629133 | C | T | 1 | a0001c0001t0054 | 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 | a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(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:18629635 | G | T | 1 | a0001c0001t0054 | 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:18630010 | A | C | 1 | a0001c0001t0036 | 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:18630269 | A | G | 2 | a0001c0001t0034 a0001c0001t0035 |
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:18630577 | G | A | 1 | a0001c0001t0054 | 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:18630777 | A | G | 1 | a0001c0001t0052 | 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 | a0001c0001t0051 | 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:18631143 | C | T | 1 | a0001c0001t0054 | 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: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:18632106 | C | T | 5 | a0001c0001t0014 a0001c0001t0034 a0001c0001t0035 others(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:18632227 | G | T | 24 | a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(21): 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:18632371 | G | A | 1 | a0001c0001t0037 | 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:18632515 | T | C | 1 | a0001c0001t0038 | 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 | a0001c0001t0048 | 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:18632891 | A | G | 2 | a0001c0001t0020 a0001c0001t0047 |
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:18633329 | A | G | 1 | a0001c0001t0046 | 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: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 | a0001c0001t0054 | 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:18634060 | A | G | 1 | a0001c0001t0027 | 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:18634515 | C | T | 1 | a0001c0001t0050 | 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:18634830 | C | T | 1 | a0001c0001t0045 | 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:18635294 | C | T | 1 | a0001c0001t0050 | 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 | a0001c0001t0014 a0001c0002t0014 a0001c0002t0032 |
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:18636336 | T | TTTA | 7 | a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 others(4): 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 | 5 | a0001c0001t0006 a0001c0001t0028 a0001c0001t0039 others(2): 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 | 17 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(14): Show |
71 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(68): 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 | 11 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(8): 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 | a0001c0001t0009 a0001c0001t0013 a0001c0001t0027 others(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 | a0001c0001t0010 | 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 | a0001c0001t0018 a0001c0001t0037 |
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 | a0001c0001t0034 a0001c0001t0035 |
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 | a0001c0001t0054 | 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:18637114 | T | G | 27 | a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(24): 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 | a0001c0001t0036 | 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 | 13 | a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 others(10): 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:18637831 | T | C | 1 | a0001c0001t0054 | 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 | a0001c0001t0030 | 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 | a0001c0001t0043 | 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: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 | a0001c0001t0043 | 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 | a0001c0001t0054 | 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 | a0001c0001t0042 | 1 | HG04204.hp1 | 3_prime_UTR_variant | MODIFIER | c.*11216G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 18/18 | 11216 | chrX | 18639973 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:18425831 | T | C | 5 | a0001c0001t0014g0001 a0001c0001t0054g0005 a0001c0002t0014g0002 others(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:18426001 | G | C | 1 | a0001c0004t0002g0006 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-163+306G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18426001 | |||||||
| chrX:18426182 | C | T | 2 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0189 a0001c0001t0002g0190 |
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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0016g0187 a0001c0001t0031g0188 |
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 | a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0154 others(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:18427300 | A | C | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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:18427580 | G | A | 2 | a0001c0001t0002g0007 a0001c0001t0005g0008 |
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 | a0001c0001t0011g0009 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+1950C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427645 | |||||||
| chrX:18427771 | C | T | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0008g0010 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-163+2098T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427793 | |||||||
| chrX:18427867 | T | C | 1 | a0001c0001t0006g0011 | 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 | a0001c0001t0015g0145 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-163+2274A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18427969 | |||||||
| chrX:18428420 | C | T | 1 | a0001c0001t0016g0186 | 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 | a0001c0001t0001g0141 a0001c0001t0002g0143 a0001c0001t0004g0185 others(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 | a0001c0001t0002g0139 a0001c0001t0002g0140 |
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:18429089 | C | G | 1 | a0001c0001t0001g0138 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-163+3394C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18429089 | |||||||
| chrX:18429829 | G | C | 1 | a0001c0001t0004g0163 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-163+4134G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18429829 | |||||||
| chrX:18430266 | T | G | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+4601T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430296 | |||||||
| chrX:18430375 | G | A | 2 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18430546 | C | T | 1 | a0001c0001t0002g0137 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-163+4851C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18430546 | |||||||
| chrX:18430744 | G | A | 1 | a0001c0001t0001g0138 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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:18430955 | A | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0041g0013 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-163+5312G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431007 | |||||||
| chrX:18431082 | C | T | 1 | a0001c0001t0001g0138 | 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 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
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 | a0001c0001t0044g0014 | 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 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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 | 156 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(153): Show |
156 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(153): Show |
intron_variant | MODIFIER | c.-163+5693G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431388 | |||||||
| chrX:18431423 | C | CTTTTCTT others(9): Show |
1 | a0001c0001t0054g0005 | 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:18431428 | T | C | 2 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0050g0142 | 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 | a0001c0001t0021g0111 a0001c0001t0021g0112 |
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:18431627 | A | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0023g0015 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+6042G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18431737 | |||||||
| chrX:18431919 | C | CT | 156 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(153): Show |
156 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(153): 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 | a0001c0001t0001g0159 a0001c0001t0002g0154 a0001c0001t0002g0156 others(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 | ATTTC | A | 13 | a0001c0001t0001g0109 a0001c0001t0003g0110 a0001c0001t0004g0181 others(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 | CTT | C | 6 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0003g0016 | 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 | a0001c0001t0002g0108 | 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 | a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0014g0001 others(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 | a0001c0001t0001g0017 a0001c0001t0002g0007 a0001c0001t0004g0164 others(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:18432953 | G | A | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0003g0019 | 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 | a0001c0001t0001g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(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:18433324 | A | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+7632C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433327 | |||||||
| chrX:18433447 | G | T | 1 | a0001c0001t0005g0107 | 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 | a0001c0001t0044g0014 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-163+7851G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18433546 | |||||||
| chrX:18433564 | A | T | 1 | a0001c0001t0054g0005 | 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 | G | 1 | a0001c0001t0002g0106 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0006g0035 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.-163+8750T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18434445 | |||||||
| chrX:18434799 | G | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0143 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0105 | 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 | a0001c0001t0006g0020 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0113 | 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 | a0001c0001t0023g0036 | 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 | a0001c0001t0026g0165 | 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 | a0001c0001t0037g0130 a0001c0004t0002g0006 |
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 | a0001c0001t0018g0037 a0001c0001t0018g0038 |
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 | a0001c0001t0036g0153 | 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 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 others(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 | CA | C | 12 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0103 others(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 | a0001c0001t0011g0009 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18437947 | C | G | 1 | a0001c0001t0004g0163 | 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 | a0001c0001t0014g0001 a0001c0001t0054g0005 a0001c0002t0014g0002 others(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 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-163+12824G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18438519 | |||||||
| chrX:18438771 | C | T | 1 | a0001c0001t0005g0008 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0002g0024 others(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 | a0001c0001t0002g0034 a0001c0001t0005g0098 a0001c0001t0005g0099 others(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 | a0001c0001t0001g0129 | 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 | a0001c0001t0006g0011 | 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 | a0001c0001t0009g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-163+13341C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439036 | |||||||
| chrX:18439045 | G | GC | 69 | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0071 others(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 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 others(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 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0002g0154 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0169 others(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:18439057 | G | C | 1 | a0001c0001t0006g0020 | 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 | a0001c0001t0006g0020 | 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 | a0001c0001t0001g0105 | 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 | a0001c0001t0001g0096 | 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 | a0001c0001t0002g0030 a0001c0001t0002g0106 a0001c0001t0002g0154 others(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 | GGTGTGTG others(11): Show |
1 | a0001c0001t0054g0005 | 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:18439708 | C | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0052 a0001c0001t0010g0131 a0001c0001t0019g0022 others(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 | a0001c0001t0002g0033 a0001c0001t0002g0167 a0001c0001t0004g0163 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0089 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+14222G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18439917 | |||||||
| chrX:18440173 | C | T | 6 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0103 a0001c0001t0002g0189 a0001c0001t0002g0190 |
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:18440888 | G | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0091 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+15486C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441181 | |||||||
| chrX:18441558 | G | A | 1 | a0001c0001t0005g0053 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-163+15863G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18441558 | |||||||
| chrX:18441830 | C | T | 4 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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:18441874 | G | A | 1 | a0001c0001t0002g0106 | 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 | a0001c0001t0011g0009 | 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 | a0001c0001t0049g0068 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-163+16384G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442079 | |||||||
| chrX:18442160 | A | G | 30 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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: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 | a0001c0001t0001g0042 a0001c0001t0041g0013 |
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 | a0001c0001t0002g0106 a0001c0001t0004g0163 a0001c0001t0007g0151 others(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 | a0001c0001t0001g0044 | 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 | a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0002g0126 others(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 | a0001c0001t0003g0054 a0001c0001t0050g0142 a0001c0001t0054g0005 |
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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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:18442524 | C | T | 3 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0003g0069 | 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 | a0001c0001t0017g0121 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.-163+17046G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442741 | |||||||
| chrX:18442791 | G | A | 4 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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:18442836 | A | G | 1 | a0001c0001t0001g0120 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-163+17141A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18442836 | |||||||
| chrX:18443136 | C | T | 4 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0022g0064 others(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:18444060 | TG | T | 14 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0001g0023 a0001c0001t0001g0120 a0001c0001t0002g0024 others(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:18444393 | G | C | 1 | a0001c0001t0052g0070 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0042 a0001c0001t0002g0167 a0001c0001t0004g0163 others(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:18445638 | C | T | 2 | a0001c0001t0001g0044 a0001c0001t0001g0096 |
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 | a0001c0001t0001g0071 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0088 others(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:18446353 | G | GA | 7 | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0141 others(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:18446598 | G | A | 27 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0001g0161 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0001g0138 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18447669 | C | T | 69 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0089 others(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:18448215 | C | G | 1 | a0001c0001t0010g0134 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0100 a0001c0001t0005g0053 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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:18448879 | G | A | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+23184G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18448879 | |||||||
| chrX:18449376 | T | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0159 | 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 | a0001c0001t0001g0039 a0001c0001t0002g0108 a0001c0001t0003g0060 others(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 | a0001c0001t0001g0039 a0001c0001t0002g0108 a0001c0001t0003g0060 others(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:18449742 | C | A | 2 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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:18450021 | T | C | 1 | a0001c0001t0031g0188 | 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 | a0001c0001t0002g0007 a0001c0001t0005g0008 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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:18450368 | T | G | 6 | a0001c0001t0014g0001 a0001c0001t0036g0153 a0001c0001t0054g0005 others(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 | a0001c0001t0041g0013 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-163+24868A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18450563 | |||||||
| chrX:18451313 | T | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18451793 | G | T | 1 | a0001c0001t0047g0125 | 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 | a0001c0001t0009g0116 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18452428 | T | A | 1 | a0001c0001t0002g0154 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.-163+26733T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18452428 | |||||||
| chrX:18452819 | G | GT | 25 | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0052 others(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 | a0001c0001t0001g0159 a0001c0001t0002g0154 a0001c0001t0002g0158 others(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 | a0001c0001t0002g0160 a0001c0001t0004g0163 a0001c0001t0004g0175 others(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 | GT | G | 11 | a0001c0001t0001g0055 a0001c0001t0002g0025 a0001c0001t0002g0117 others(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:18453161 | T | A | 1 | a0001c0001t0002g0154 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0002t0014g0002 | 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 | a0001c0001t0005g0008 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.-163+27943G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18453638 | |||||||
| chrX:18454140 | C | T | 2 | a0001c0001t0024g0093 a0001c0001t0024g0094 |
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:18454524 | C | T | 1 | a0001c0001t0052g0070 | 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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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 | a0001c0001t0002g0029 a0001c0001t0003g0061 a0001c0001t0004g0191 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0011g0104 others(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 | a0001c0001t0001g0159 a0001c0001t0002g0154 a0001c0001t0002g0156 others(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 | a0001c0001t0001g0046 | 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 | a0001c0001t0001g0046 | 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 | a0001c0001t0030g0026 | 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 | a0001c0001t0045g0018 | 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 | a0001c0001t0010g0134 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0037g0130 | 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 | a0001c0001t0008g0021 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+31813T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18457508 | |||||||
| chrX:18457630 | T | G | 6 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0113 others(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 | 42 | a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0095 others(39): Show |
42 | HG00544.hp2 HG01070.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.-163+32242dupT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18457912 | ||||||
| chrX:18458807 | T | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0043g0122 | 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 | a0001c0001t0007g0151 a0001c0001t0011g0152 |
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 | a0001c0001t0003g0058 | 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 | a0001c0001t0001g0042 | 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 | 186 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(183): Show |
186 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(183): Show |
intron_variant | MODIFIER | c.-163+33584A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18459279 | |||||||
| chrX:18459540 | C | T | 5 | a0001c0001t0003g0047 a0001c0001t0003g0123 a0001c0001t0005g0049 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0052 a0001c0001t0002g0167 a0001c0001t0003g0100 others(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 | CT | C | 9 | a0001c0001t0002g0073 a0001c0001t0002g0103 a0001c0001t0004g0164 others(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 | a0001c0001t0002g0160 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0013g0178 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0005g0074 a0001c0001t0005g0075 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-163+34861G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18460556 | |||||||
| chrX:18460754 | G | A | 4 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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 | a0001c0001t0002g0139 a0001c0001t0002g0140 |
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 | a0001c0001t0003g0047 a0001c0001t0048g0067 |
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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18461685 | A | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0004g0164 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0136 a0001c0001t0002g0154 a0001c0001t0003g0054 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0011g0009 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0013g0179 | 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 | a0001c0001t0002g0117 | 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 | a0001c0001t0004g0184 | 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 | a0001c0002t0014g0003 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-163+38253C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18463948 | |||||||
| chrX:18464041 | T | A | 5 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0011g0009 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-163+38540G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464235 | |||||||
| chrX:18464435 | A | G | 2 | a0001c0001t0002g0158 a0001c0001t0002g0160 |
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 | 63 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(60): Show |
63 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.-163+38850C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18464545 | |||||||
| chrX:18465090 | G | A | 8 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0090 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0035g0146 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-39702A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18467233 | |||||||
| chrX:18467891 | G | A | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-39044G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18467891 | |||||||
| chrX:18468714 | A | C | 15 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0021g0111 a0001c0001t0021g0112 a0001c0001t0023g0036 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18469065 | G | C | 1 | a0001c0001t0001g0105 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.-162-37870G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18469065 | |||||||
| chrX:18469308 | C | T | 2 | a0001c0001t0005g0074 a0001c0001t0005g0075 |
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 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 others(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 | 18 | a0001c0001t0001g0055 a0001c0001t0001g0135 a0001c0001t0002g0024 others(15): Show |
18 | HG00609.hp1 HG01256.hp1 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.-162-37570delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18469338 | ||||||
| chrX:18469591 | T | C | 1 | a0001c0001t0002g0045 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-162-37344T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18469591 | |||||||
| chrX:18469648 | CA | C | 26 | a0001c0001t0002g0025 a0001c0001t0002g0167 a0001c0001t0004g0164 others(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:18470070 | C | T | 1 | a0001c0001t0003g0061 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.-162-36865C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470070 | |||||||
| chrX:18470335 | CAAAAAAA others(16): Show |
C | 57 | a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0002g0167 others(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:18470355 | GAAAAAAA others(17): Show |
G | 6 | a0001c0001t0012g0168 a0001c0001t0012g0170 a0001c0001t0014g0001 others(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 | 5 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0109 others(2): Show |
5 | HG02602.hp1 HG02698.hp1 HG03688.hp1 others(2): 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0009 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0002g0024 others(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 | a0001c0001t0002g0106 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-162-36160A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18470775 | |||||||
| chrX:18471777 | C | T | 39 | a0001c0001t0002g0167 a0001c0001t0002g0189 a0001c0001t0002g0190 others(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:18471999 | C | T | 1 | a0001c0001t0004g0169 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-162-34936C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18471999 | |||||||
| chrX:18472173 | T | A | 1 | a0001c0001t0039g0062 | 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 | 64 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(61): Show |
64 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.-162-34651T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472284 | |||||||
| chrX:18472399 | A | C | 1 | a0001c0001t0039g0062 | 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 | a0001c0001t0039g0062 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-34535G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472400 | |||||||
| chrX:18472569 | G | A | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-34366G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18472569 | |||||||
| chrX:18472857 | T | C | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0001g0056 a0001c0001t0001g0129 a0001c0001t0009g0116 others(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:18473210 | C | T | 1 | a0001c0004t0002g0006 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-162-33725C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18473210 | |||||||
| chrX:18473642 | C | T | 1 | a0001c0001t0017g0144 | 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 | a0001c0001t0002g0117 a0001c0001t0002g0137 a0001c0001t0006g0177 others(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 | a0001c0001t0001g0105 a0001c0001t0005g0074 a0001c0001t0014g0001 others(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 | a0001c0002t0014g0002 a0001c0002t0014g0003 a0001c0002t0032g0004 |
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:18473899 | CT | C | 9 | a0001c0001t0004g0184 a0001c0001t0014g0001 a0001c0001t0034g0012 others(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:18474306 | AATTGTAA others(136): Show |
A | 1 | a0001c0001t0039g0062 | 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:18474541 | C | A | 1 | a0001c0001t0039g0062 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32394C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474541 | |||||||
| chrX:18474608 | C | T | 1 | a0001c0001t0039g0062 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32327C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474608 | |||||||
| chrX:18474707 | T | C | 1 | a0001c0001t0039g0062 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-162-32228T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474707 | |||||||
| chrX:18474750 | C | T | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-32185C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18474750 | |||||||
| chrX:18474903 | C | G | 3 | a0001c0002t0014g0002 a0001c0002t0014g0003 a0001c0002t0032g0004 |
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:18474941 | T | A | 2 | a0001c0001t0024g0093 a0001c0001t0024g0094 |
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:18474963 | G | GT | 7 | a0001c0001t0001g0056 a0001c0001t0002g0030 a0001c0001t0003g0058 others(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:18475012 | G | GCAGTGGC others(92): Show |
1 | a0001c0001t0039g0062 | 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 | a0001c0001t0002g0108 a0001c0001t0009g0050 a0001c0001t0027g0174 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0090 others(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 | a0001c0001t0015g0115 | 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 | a0001c0001t0005g0107 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0016g0187 | 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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0025g0173 a0001c0001t0029g0172 |
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:18476869 | C | T | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0041g0013 | 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 | a0001c0001t0036g0153 a0001c0001t0054g0005 |
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 | a0001c0001t0002g0103 | 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 | a0001c0001t0006g0011 | 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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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:18478252 | C | A | 1 | a0001c0001t0046g0085 | 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 | 145 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(142): Show |
145 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(142): Show |
intron_variant | MODIFIER | c.-162-28631delT | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | 18478286 | ||||||
| chrX:18478468 | C | T | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-28467C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18478468 | |||||||
| chrX:18478741 | G | T | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0117 | 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 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0120 others(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 | a0001c0001t0001g0129 a0001c0001t0002g0027 a0001c0001t0005g0008 others(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:18479420 | C | T | 1 | a0001c0001t0001g0095 | 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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0011g0152 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-162-27012A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18479923 | |||||||
| chrX:18480109 | A | T | 155 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(152): Show |
155 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(152): 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 | a0001c0001t0003g0060 | 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 | a0001c0001t0002g0106 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0006g0177 | 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 | a0001c0001t0054g0005 | 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 | CTTTTTTT | C | 58 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(55): Show |
58 | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(55): 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18481270 | A | T | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0089 others(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 | a0001c0001t0001g0161 a0001c0001t0002g0167 a0001c0001t0004g0163 others(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 | a0001c0001t0001g0120 a0001c0001t0004g0164 a0001c0001t0004g0175 others(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 | a0001c0001t0010g0131 a0001c0001t0010g0134 a0001c0001t0012g0171 others(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 | a0001c0001t0004g0169 a0001c0001t0004g0185 a0001c0001t0012g0168 others(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 | a0001c0001t0004g0184 a0001c0001t0010g0132 |
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 | 34 | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0071 others(31): Show |
34 | HG00609.hp1 HG00642.hp1 HG01261.hp1 others(31): 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 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0042 others(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 | a0001c0001t0003g0047 a0001c0001t0003g0123 a0001c0001t0005g0049 others(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 | a0001c0001t0011g0009 a0001c0001t0023g0015 a0001c0001t0024g0093 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0036g0153 | 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: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 | a0001c0001t0054g0005 | 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 | a0001c0001t0016g0187 | 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 | a0001c0001t0001g0023 a0001c0001t0002g0007 a0001c0001t0002g0024 others(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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18481719 | G | T | 2 | a0001c0001t0007g0151 a0001c0001t0011g0152 |
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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18482560 | T | A | 1 | a0001c0001t0023g0036 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0017g0144 | 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 | a0001c0001t0001g0161 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18483477 | G | A | 1 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-23458G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483477 | |||||||
| chrX:18483812 | T | A | 1 | a0001c0001t0030g0026 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-162-23123T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18483812 | |||||||
| chrX:18484000 | C | A | 2 | a0001c0001t0018g0037 a0001c0001t0018g0038 |
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 | a0001c0001t0003g0019 | 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 | a0001c0001t0001g0046 | 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 | a0001c0001t0002g0167 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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:18484331 | G | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0023 | 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 | a0001c0001t0014g0001 | 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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-162-22143C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18484792 | |||||||
| chrX:18485114 | A | G | 1 | a0001c0001t0004g0164 | 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 | a0001c0001t0004g0163 | 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 | 188 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(185): Show |
188 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(185): 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-162-20844C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18486091 | |||||||
| chrX:18486694 | A | G | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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:18486936 | A | C | 3 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0113 |
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:18487035 | A | G | 3 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0113 |
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 | a0001c0001t0006g0011 | 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 | a0001c0001t0023g0036 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0002g0029 | 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 | a0001c0001t0050g0142 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0002g0158 a0001c0001t0002g0160 |
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 | a0001c0001t0037g0130 a0001c0004t0002g0006 |
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 | a0001c0001t0003g0060 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-162-17730G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18489205 | |||||||
| chrX:18489776 | G | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0036g0153 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0037g0130 a0001c0004t0002g0006 |
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 | a0001c0001t0001g0023 | 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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 others(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 | a0001c0001t0008g0010 | 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 | a0001c0001t0009g0118 | 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 | a0001c0001t0005g0053 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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:18493310 | C | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0050g0142 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-162-13244T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18493691 | |||||||
| chrX:18494516 | C | A | 2 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0033g0166 | 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 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-162-11198C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18495737 | |||||||
| chrX:18496153 | G | A | 1 | a0001c0001t0005g0057 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-162-10782G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18496153 | |||||||
| chrX:18496976 | G | C | 1 | a0001c0001t0003g0069 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.-162-9959G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18496976 | |||||||
| chrX:18497098 | T | G | 1 | a0001c0001t0001g0135 | 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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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 | a0001c0001t0002g0024 | 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 | a0001c0001t0002g0029 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0003g0069 | 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 | a0001c0001t0002g0024 a0001c0001t0002g0025 |
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:18497987 | T | TA | 5 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0129 others(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:18498114 | A | G | 2 | a0001c0001t0036g0153 a0001c0001t0054g0005 |
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 | a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0026g0165 |
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 | a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0026g0165 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0007g0151 | 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 | a0001c0001t0004g0184 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0079 a0001c0001t0012g0171 a0001c0001t0017g0121 others(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:18499362 | T | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0050g0142 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0076 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0023g0036 | 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 | a0001c0001t0021g0111 a0001c0001t0021g0112 |
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 | a0001c0001t0011g0091 | 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 | a0001c0002t0032g0004 | 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 | a0001c0001t0036g0153 a0001c0001t0050g0142 a0001c0001t0054g0005 |
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 | a0001c0001t0036g0153 a0001c0001t0054g0005 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0007g0151 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0042 others(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 | a0001c0001t0011g0104 | 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 | a0001c0001t0025g0173 a0001c0001t0029g0172 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0002g0137 | 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 | a0001c0001t0002g0028 | 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 | a0001c0001t0011g0009 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0003g0069 | 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 | a0001c0001t0009g0097 | 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 | a0001c0001t0002g0031 | 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 | a0001c0001t0001g0136 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0005g0057 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0106 | 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 | 160 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(157): Show |
160 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(157): 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 | a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0002g0137 others(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 | a0001c0001t0005g0098 a0001c0001t0011g0009 a0001c0001t0024g0093 others(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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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 | a0001c0001t0036g0153 a0001c0001t0054g0005 |
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:18505364 | C | T | 2 | a0001c0001t0025g0173 a0001c0001t0029g0172 |
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 | a0001c0001t0034g0012 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-162-1093G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | 18505842 | |||||||
| chrX:18506497 | A | C | 1 | a0001c0001t0003g0069 | 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:18506766 | T | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0015g0081 | 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 | a0001c0001t0011g0009 | 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 | a0001c0001t0002g0007 a0001c0001t0004g0163 a0001c0001t0014g0001 others(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 | CT | C | 7 | a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0117 others(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 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0043g0122 | 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 | a0001c0001t0001g0071 a0001c0001t0002g0143 a0001c0001t0002g0189 others(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 | a0001c0001t0001g0023 a0001c0001t0001g0113 a0001c0001t0001g0161 others(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 | a0001c0001t0011g0009 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0066 a0001c0001t0002g0158 a0001c0001t0002g0160 others(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 | a0001c0001t0001g0141 | 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 | a0001c0001t0001g0113 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0135 a0001c0001t0002g0143 a0001c0001t0002g0154 others(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 | a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0015g0115 others(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 | AAC | A | 8 | a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0002g0156 others(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 | a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0167 others(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:18509164 | G | T | 1 | a0001c0001t0054g0005 | 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 | AACGCACA others(5): Show |
1 | a0001c0001t0042g0043 | 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 | a0001c0001t0017g0121 a0001c0001t0017g0144 a0001c0001t0042g0043 |
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 | a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0002g0029 others(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 | a0001c0001t0001g0017 a0001c0001t0001g0056 a0001c0001t0001g0076 others(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 | 13 | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0109 others(10): Show |
13 | HG01069.hp1 HG01071.hp1 HG01884.hp1 others(10): 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 | a0001c0001t0002g0028 a0001c0001t0003g0019 a0001c0001t0003g0069 others(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 | a0001c0001t0002g0024 a0001c0001t0023g0015 |
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 | a0001c0001t0001g0102 a0001c0001t0002g0025 a0001c0001t0002g0031 others(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 | a0001c0001t0001g0096 a0001c0001t0001g0138 |
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 | a0001c0001t0039g0062 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0012g0168 | 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 | a0001c0001t0016g0186 | 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 | a0001c0001t0012g0170 | 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 | a0001c0001t0026g0165 | 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 | a0001c0001t0004g0164 | 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 | a0001c0001t0004g0163 | 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 | a0001c0001t0004g0185 | 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 | a0001c0001t0004g0176 | 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 | a0001c0001t0004g0169 | 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 | a0001c0001t0025g0173 a0001c0001t0029g0172 |
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 | a0001c0001t0004g0182 | 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 | a0001c0001t0030g0026 | 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 | a0001c0001t0028g0180 | 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 | a0001c0001t0013g0179 | 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 | a0001c0001t0013g0178 | 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 | a0001c0001t0004g0183 | 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 | a0001c0001t0004g0175 | 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 | a0001c0001t0016g0187 | 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 | a0001c0001t0031g0188 | 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 | a0001c0001t0013g0084 | 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 | a0001c0001t0004g0181 | 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 | a0001c0001t0027g0174 | 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 | GCA | G | 17 | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0055 others(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 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0066 others(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 | a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0009g0097 others(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 | a0001c0002t0014g0002 a0001c0002t0032g0004 |
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 | a0001c0001t0036g0153 | 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 | a0001c0001t0003g0060 | 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 | ACG | 2 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0022g0064 a0001c0001t0022g0065 a0001c0001t0023g0036 |
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(3): Show |
1 | a0001c0001t0012g0171 | 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 | a0001c0001t0033g0166 | 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 | a0001c0001t0001g0089 a0001c0001t0002g0045 |
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 | G | 9 | a0001c0001t0001g0095 a0001c0001t0001g0141 a0001c0001t0004g0184 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0033g0166 |
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 | a0001c0001t0001g0090 a0001c0001t0004g0191 a0001c0001t0004g0192 |
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:18509243 | A | C | 6 | a0001c0001t0003g0054 a0001c0001t0003g0123 a0001c0001t0005g0098 others(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:18509245 | A | ACACACAC others(5): Show |
1 | a0001c0001t0006g0020 | 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 | ACACC | 3 | a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0009g0116 |
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 | a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0006g0059 others(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 | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0055 others(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:18509246 | C | CACACA | 2 | a0001c0001t0003g0061 a0001c0001t0005g0107 |
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 | T | 1 | a0001c0001t0030g0026 | 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 | a0001c0001t0002g0160 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0003g0047 a0001c0001t0011g0104 a0001c0001t0022g0065 others(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:18510105 | G | C | 1 | a0001c0001t0001g0135 | 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 | a0001c0001t0011g0091 | 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 | a0001c0001t0005g0072 a0001c0001t0006g0011 |
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 | a0001c0001t0006g0177 | 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 | a0001c0001t0009g0116 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0005g0107 | 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 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
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 | a0001c0001t0021g0111 a0001c0001t0021g0112 |
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 | 153 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(150): Show |
153 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(150): 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0002g0106 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0143 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.99+2234G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18513088 | |||||||
| chrX:18513896 | G | A | 1 | a0001c0001t0011g0091 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+3779G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18514633 | |||||||
| chrX:18514719 | A | AAAAAAGA others(21): Show |
1 | a0001c0001t0025g0173 | 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 | a0001c0001t0004g0184 a0001c0001t0005g0048 a0001c0001t0012g0168 others(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:18514923 | C | T | 1 | a0001c0001t0001g0040 | 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 | a0001c0001t0017g0121 a0001c0001t0017g0144 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+4991G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18515845 | |||||||
| chrX:18516000 | T | TTC | 30 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0138 others(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:18516303 | T | A | 1 | a0001c0001t0006g0011 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0169 a0001c0001t0004g0175 others(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 | a0001c0001t0014g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.99+6132C>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18516986 | |||||||
| chrX:18517596 | A | C | 1 | a0001c0001t0025g0173 | 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 | a0001c0001t0025g0173 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6743C>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517597 | |||||||
| chrX:18517609 | A | C | 1 | a0001c0001t0025g0173 | 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 | a0001c0001t0025g0173 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6757A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517611 | |||||||
| chrX:18517637 | CAGGCCTG others(7): Show |
C | 1 | a0001c0001t0025g0173 | 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:18517676 | T | A | 1 | a0001c0001t0025g0173 | 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 | a0001c0001t0025g0173 | 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 | a0001c0001t0025g0173 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6824T>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517678 | |||||||
| chrX:18517791 | G | A | 1 | a0001c0001t0025g0173 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.99+6937G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18517791 | |||||||
| chrX:18517876 | C | T | 6 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18517953 | G | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0035g0146 | 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 | a0001c0001t0007g0151 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0016g0187 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0175 others(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 | a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0027g0174 |
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 | a0001c0001t0004g0163 a0001c0001t0004g0184 a0001c0001t0012g0171 others(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 | a0001c0001t0004g0181 a0001c0001t0013g0084 a0001c0001t0031g0188 |
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 | a0001c0001t0004g0181 a0001c0001t0013g0084 a0001c0001t0031g0188 |
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 | a0001c0001t0022g0064 a0001c0001t0023g0015 |
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:18518386 | T | A | 3 | a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0027g0174 |
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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0001g0040 a0001c0001t0001g0113 a0001c0001t0001g0120 others(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 | T | 11 | a0001c0001t0011g0104 a0001c0001t0013g0178 a0001c0001t0013g0179 others(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 | a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0079 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0003g0078 others(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 | 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 | a0001c0001t0001g0055 a0001c0001t0014g0001 |
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 | a0001c0001t0005g0048 a0001c0001t0005g0099 |
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 | a0001c0001t0001g0136 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0184 a0001c0001t0012g0171 others(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 | a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0004g0175 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0015g0145 | 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 | a0001c0001t0002g0077 a0001c0001t0021g0111 a0001c0001t0021g0112 others(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 | a0001c0001t0002g0156 | 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 | a0001c0001t0001g0056 | 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 | a0001c0001t0038g0063 | 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 | a0001c0001t0005g0072 | 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 | a0001c0001t0033g0166 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0056 | 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 | a0001c0001t0011g0091 a0001c0001t0011g0104 a0001c0001t0021g0111 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0001g0113 a0001c0001t0015g0115 |
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 | a0001c0002t0032g0004 | 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 | a0001c0001t0008g0155 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0159 | 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 | a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0004g0164 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.99+10487A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521341 | |||||||
| chrX:18521459 | C | T | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0189 a0001c0001t0002g0190 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0090 a0001c0001t0001g0095 |
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:18521903 | C | T | 1 | a0001c0001t0002g0025 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.99+11049C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18521903 | |||||||
| chrX:18522101 | AT | A | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0044 a0001c0001t0001g0120 a0001c0001t0001g0138 others(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 | CT | C | 42 | a0001c0001t0001g0017 a0001c0001t0001g0088 a0001c0001t0003g0082 others(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:18522387 | C | T | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0015g0145 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18522793 | A | AT | 12 | a0001c0001t0001g0044 a0001c0001t0003g0016 a0001c0001t0003g0054 others(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 | a0001c0001t0002g0108 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0164 | 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 | a0001c0001t0036g0153 | 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 | a0001c0004t0002g0006 | 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 | 170 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(167): Show |
170 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(167): 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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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 | a0001c0001t0001g0056 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0008g0010 | 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 | a0001c0001t0011g0104 a0001c0001t0022g0064 a0001c0001t0022g0065 others(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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0027 | 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 | a0001c0001t0002g0108 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.99+14836G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18525690 | |||||||
| chrX:18525744 | CT | C | 37 | a0001c0001t0001g0129 a0001c0001t0002g0028 a0001c0001t0002g0034 others(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:18525816 | G | A | 1 | a0001c0001t0011g0009 | 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 | a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0009g0097 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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:18527062 | C | T | 1 | a0001c0001t0005g0053 | 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 | a0001c0001t0002g0137 | 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 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.99+16387A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18527241 | |||||||
| chrX:18527764 | G | C | 1 | a0001c0001t0049g0068 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+17283T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18528137 | |||||||
| chrX:18528237 | A | AT | 15 | a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0159 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 |
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:18528290 | G | A | 1 | a0001c0001t0001g0017 | 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:18528701 | A | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0161 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0015g0115 | 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 | a0001c0001t0008g0010 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0089 others(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 | a0001c0001t0002g0154 a0001c0001t0014g0001 a0001c0001t0015g0081 others(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 | a0001c0001t0002g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 others(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 | a0001c0001t0002g0117 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.99+18679G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18529533 | |||||||
| chrX:18530124 | C | T | 1 | a0001c0001t0046g0085 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.99+19289G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18530143 | |||||||
| chrX:18530335 | C | CA | 10 | a0001c0001t0001g0080 a0001c0001t0002g0029 a0001c0001t0002g0030 others(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:18530814 | T | C | 1 | a0001c0001t0005g0107 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0022g0064 others(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 | a0001c0001t0003g0054 | 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 | a0001c0001t0014g0001 a0001c0001t0036g0153 a0001c0001t0054g0005 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18531707 | C | T | 67 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0089 others(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 | a0001c0001t0016g0186 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0104 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0047g0125 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18533969 | C | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0005g0049 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.99+23547A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18534401 | |||||||
| chrX:18534763 | T | A | 1 | a0001c0001t0002g0137 | 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 | a0001c0001t0018g0037 a0001c0001t0018g0038 |
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:18535046 | G | T | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0002c0003t0002g0127 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0001g0129 | 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 | a0001c0001t0004g0164 a0001c0001t0007g0147 a0001c0001t0007g0148 others(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 | a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0181 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0185 a0001c0001t0012g0171 others(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 | GT | G | 46 | a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0056 others(43): Show |
46 | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(43): 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 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0003g0060 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | GTTTTTTT others(9): Show |
G | 1 | a0001c0001t0015g0145 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0001g0052 | 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 | a0001c0001t0001g0052 | 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 | a0001c0001t0014g0001 | 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 | a0001c0001t0002g0117 a0001c0001t0007g0147 a0001c0001t0007g0148 others(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 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
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 | a0001c0002t0032g0004 | 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 | a0001c0001t0017g0121 a0001c0001t0017g0144 |
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 | a0001c0001t0001g0046 | 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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.99+26715G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18537569 | |||||||
| chrX:18537832 | C | T | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0042g0043 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0002g0007 a0001c0001t0002g0126 a0001c0001t0005g0008 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0090 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0022g0064 a0001c0001t0022g0065 |
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 | a0001c0001t0003g0060 | 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 | a0001c0001t0001g0088 a0001c0001t0001g0138 a0001c0001t0007g0147 others(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 | a0001c0001t0027g0174 | 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 | a0001c0001t0005g0053 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-24021A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18540456 | |||||||
| chrX:18541956 | A | T | 1 | a0001c0001t0042g0043 | 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 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0041g0013 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0096 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0007g0147 | 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 | a0001c0001t0049g0068 | 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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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:18543853 | C | A | 2 | a0001c0001t0005g0074 a0001c0001t0005g0075 |
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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0004g0164 | 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 | a0001c0001t0005g0107 | 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 | a0001c0001t0003g0061 a0001c0001t0005g0086 |
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:18544909 | G | A | 1 | a0001c0001t0002g0162 | 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 | a0001c0001t0001g0076 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.100-19287C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545190 | |||||||
| chrX:18545452 | C | T | 1 | a0001c0001t0049g0068 | 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 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.100-18876G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18545601 | |||||||
| chrX:18546258 | C | CT | 8 | a0001c0001t0001g0141 a0001c0001t0014g0001 a0001c0001t0021g0111 others(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 | a0001c0001t0002g0045 a0001c0001t0005g0074 a0001c0001t0005g0099 others(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:18546297 | T | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0035g0146 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0002g0137 | 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 | a0001c0001t0019g0032 | 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 | a0001c0001t0019g0022 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0010g0132 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.100-16515T>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18547962 | |||||||
| chrX:18548743 | T | C | 7 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0055 | 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 | a0001c0001t0001g0089 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0030 | 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 | a0001c0001t0043g0122 | 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 | a0001c0001t0001g0102 | 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 | a0001c0001t0011g0152 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0076 others(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 | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0052 others(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 | a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0096 others(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 | a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0071 others(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 | a0001c0001t0014g0001 a0001c0001t0031g0188 a0001c0002t0014g0002 others(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 | a0001c0001t0008g0021 | 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 | a0001c0001t0001g0056 a0001c0001t0003g0123 |
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:18551711 | A | G | 1 | a0001c0001t0001g0161 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.100-12766A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18551711 | |||||||
| chrX:18551868 | T | C | 1 | a0001c0001t0010g0131 | 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 | a0001c0001t0001g0089 | 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 | a0001c0001t0001g0046 a0001c0001t0007g0147 a0001c0001t0007g0148 others(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:18552643 | G | A | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.100-11122C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18553355 | |||||||
| chrX:18553453 | TGTGTGTG others(5): Show |
T | 3 | a0001c0001t0004g0185 a0001c0001t0012g0168 a0001c0001t0012g0170 |
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:18553465 | C | CGT | 13 | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0109 others(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 | a0001c0001t0006g0035 a0001c0001t0011g0009 a0001c0001t0024g0093 others(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 | CTT | 2 | a0001c0001t0007g0147 a0001c0001t0007g0150 |
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 | a0001c0001t0007g0148 a0001c0001t0007g0149 |
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 | CGT | C | 8 | a0001c0001t0001g0079 a0001c0001t0002g0027 a0001c0001t0002g0030 others(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 | CGTGTGTG others(3): Show |
C | 2 | a0001c0001t0004g0184 a0001c0001t0054g0005 |
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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0007g0151 a0001c0001t0011g0091 a0001c0001t0011g0104 others(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 | a0001c0001t0004g0185 a0001c0001t0012g0168 a0001c0001t0012g0170 |
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 | a0001c0002t0014g0003 | 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 | a0001c0001t0001g0102 a0001c0001t0009g0097 a0001c0001t0009g0118 others(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:18554066 | T | A | 55 | a0001c0001t0002g0045 a0001c0001t0002g0106 a0001c0001t0002g0162 others(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 | a0001c0001t0022g0064 a0001c0001t0022g0065 |
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 | a0001c0001t0011g0152 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.100-10332C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18554145 | |||||||
| chrX:18554414 | C | CT | 7 | a0001c0001t0005g0049 a0001c0001t0006g0177 a0001c0001t0009g0097 others(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:18554567 | C | T | 4 | a0001c0001t0011g0104 a0001c0001t0022g0064 a0001c0001t0022g0065 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0001g0088 a0001c0001t0001g0138 |
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 | a0001c0001t0002g0108 a0001c0001t0009g0050 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 others(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 | a0001c0001t0021g0111 a0001c0001t0021g0112 |
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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0037g0130 | 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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0089 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0126 | 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 | a0001c0001t0018g0037 a0001c0001t0018g0038 |
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:18556535 | G | C | 1 | a0001c0001t0054g0005 | 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 | 145 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(142): Show |
145 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(142): 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 | a0001c0001t0001g0071 a0001c0001t0002g0027 a0001c0001t0002g0030 others(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 | CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 others(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 | a0001c0001t0004g0185 a0001c0001t0012g0168 a0001c0001t0012g0170 |
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 | a0001c0001t0002g0126 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.100-6957G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | 18557520 | |||||||
| chrX:18558226 | G | A | 1 | a0001c0001t0002g0162 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0113 |
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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0001g0017 a0001c0001t0001g0083 a0001c0001t0001g0113 |
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 | a0001c0001t0002g0007 a0001c0001t0002g0126 a0001c0001t0005g0008 others(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 | CT | C | 5 | a0001c0001t0002g0007 a0001c0001t0006g0059 a0001c0001t0034g0012 others(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 | a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 others(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 | a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 others(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:18559880 | G | A | 1 | a0001c0001t0002g0143 | 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 | a0001c0001t0002g0139 | 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 | a0001c0001t0006g0011 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0005g0048 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 a0001c0001t0036g0153 |
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 | a0001c0001t0054g0005 | 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 | 181 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0039 others(178): Show |
181 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(178): 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0001g0023 a0001c0001t0002g0189 a0001c0001t0002g0190 others(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:18561610 | A | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0041g0013 | 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 | a0001c0001t0022g0064 a0001c0001t0022g0065 |
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 | a0001c0001t0001g0090 a0001c0001t0001g0095 |
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 | a0001c0001t0014g0001 a0001c0001t0036g0153 a0001c0001t0054g0005 others(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 | a0001c0001t0003g0016 a0001c0001t0003g0058 a0001c0001t0005g0074 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0090 others(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 | a0001c0001t0011g0009 | 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 | a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | a0001c0001t0001g0042 | 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 | a0001c0001t0043g0122 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0001g0066 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18565120 | A | G | 1 | a0001c0001t0001g0044 | 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 | a0001c0001t0001g0105 | 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 | a0001c0001t0001g0046 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0103 a0001c0001t0002g0189 a0001c0001t0002g0190 |
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 | a0001c0001t0003g0069 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0023g0015 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | a0001c0001t0014g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.145+2987T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567509 | |||||||
| chrX:18567691 | G | A | 1 | a0001c0001t0013g0084 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0008g0010 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.145+3410G>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18567932 | |||||||
| chrX:18569504 | T | C | 61 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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:18570423 | C | T | 1 | a0001c0001t0050g0142 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.146-4931C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 4/17 | chrX | 18570423 | |||||||
| chrX:18570590 | A | G | 4 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0036g0153 | 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:18572424 | T | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0050g0142 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0090 a0001c0001t0001g0095 |
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 | a0001c0001t0010g0131 a0001c0001t0010g0132 a0001c0001t0010g0133 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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 | a0001c0001t0035g0146 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0011g0104 a0001c0001t0023g0015 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0036g0153 a0001c0001t0054g0005 others(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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0005g0053 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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 | GT | G | 5 | a0001c0001t0002g0077 a0001c0001t0003g0082 a0001c0001t0003g0087 others(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 | a0001c0001t0005g0049 a0001c0001t0005g0057 |
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 | a0001c0001t0001g0056 a0001c0001t0003g0123 |
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 | a0001c0001t0002g0139 a0001c0001t0002g0140 |
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 | a0001c0001t0051g0051 | 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 | a0001c0001t0001g0090 a0001c0001t0001g0095 |
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 | a0001c0001t0020g0119 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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:18579635 | T | A | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0024g0093 a0001c0001t0024g0094 |
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 | 62 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(59): Show |
62 | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(59): 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0003g0019 | 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 | a0001c0001t0001g0056 a0001c0001t0003g0123 |
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: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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.404-684G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581207 | |||||||
| chrX:18581324 | T | G | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0022g0064 others(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 | a0001c0001t0025g0173 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.404-351A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 6/17 | chrX | 18581540 | |||||||
| chrX:18581721 | G | A | 1 | a0001c0001t0015g0145 | 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 | a0001c0001t0014g0001 a0001c0001t0036g0153 a0001c0001t0054g0005 others(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:18581786 | T | G | 4 | a0001c0001t0001g0071 a0001c0001t0003g0019 a0001c0001t0003g0100 others(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:18582261 | T | G | 6 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0001g0039 a0001c0001t0002g0108 a0001c0001t0003g0060 others(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 | a0001c0001t0003g0060 | 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 | a0001c0001t0002g0137 | 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 | a0001c0001t0025g0173 a0001c0001t0029g0172 |
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 | a0001c0001t0037g0130 | 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 | a0001c0001t0044g0014 | 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 | a0001c0001t0042g0043 | 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 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0002g0033 a0001c0001t0002g0073 |
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 | a0001c0001t0013g0084 a0001c0001t0013g0178 a0001c0001t0013g0179 |
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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | CAAAA | C | 7 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0004g0163 | 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 | a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0090 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0002g0103 | 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 | a0001c0001t0026g0165 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0036g0153 | 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 | a0001c0001t0047g0125 | 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 | a0001c0001t0001g0138 | 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 | a0001c0001t0023g0036 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0022g0064 a0001c0001t0022g0065 |
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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0001g0080 a0001c0001t0014g0001 a0001c0001t0034g0012 others(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:18588934 | A | C | 26 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0011g0104 a0001c0001t0022g0064 a0001c0001t0022g0065 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0049g0068 | 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 | a0001c0001t0009g0116 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0003g0078 | 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 | a0001c0001t0049g0068 | 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: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 | a0001c0001t0054g0005 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0157 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0031 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0011g0152 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0007g0149 | 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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0010g0133 | 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 | a0001c0001t0021g0111 a0001c0001t0021g0112 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0006g0035 a0001c0001t0006g0177 a0001c0001t0039g0062 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0091 | 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 | a0001c0001t0008g0010 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.745-266T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 9/17 | chrX | 18595082 | |||||||
| chrX:18595206 | A | G | 1 | a0001c0001t0001g0017 | 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 | a0001c0001t0001g0080 a0001c0001t0045g0018 |
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 | a0001c0001t0049g0068 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18596062 | C | T | 26 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0005g0107 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0100 |
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 | a0001c0001t0004g0164 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.825+1481A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 10/17 | chrX | 18596909 | |||||||
| chrX:18597591 | A | AT | 23 | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0096 others(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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0175 others(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 | a0001c0001t0004g0169 a0001c0001t0004g0185 a0001c0001t0011g0091 others(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:18597796 | G | A | 5 | a0001c0001t0014g0001 a0001c0001t0054g0005 a0001c0002t0014g0002 others(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 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0022g0064 others(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:18598714 | G | C | 1 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.977+101G>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 11/17 | chrX | 18598714 | |||||||
| chrX:18599104 | G | A | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0002g0143 | 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 | 68 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(65): Show |
68 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(65): 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 | a0001c0001t0010g0132 | 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 | a0001c0001t0040g0041 | 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 | a0001c0001t0020g0119 | 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 | a0001c0001t0011g0091 | 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 | a0001c0001t0001g0080 a0001c0001t0045g0018 |
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 | a0001c0001t0005g0074 a0001c0001t0005g0075 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0108 | 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 | a0001c0001t0016g0187 a0001c0001t0028g0180 a0001c0001t0031g0188 |
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:18602734 | C | T | 1 | a0001c0001t0002g0140 | 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 | a0001c0001t0011g0104 a0001c0001t0022g0064 a0001c0001t0022g0065 others(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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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:18605338 | A | T | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0159 others(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 | a0001c0001t0001g0141 a0001c0001t0002g0024 a0001c0001t0017g0144 |
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 | a0001c0001t0034g0012 a0001c0001t0035g0146 a0001c0001t0054g0005 |
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 | a0001c0002t0014g0003 a0001c0002t0032g0004 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 |
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 | a0001c0001t0001g0071 a0001c0001t0001g0120 a0001c0001t0002g0029 others(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 | a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0095 others(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 | a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0001t0009g0116 others(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:18606209 | CA | C | 2 | a0001c0001t0004g0175 a0001c0001t0013g0179 |
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:18606216 | A | C | 1 | a0001c0001t0001g0056 | 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 | a0001c0001t0010g0131 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0002t0014g0002 | 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 | a0001c0001t0003g0069 | 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 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
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:18607715 | G | T | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0002g0162 | 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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0003g0054 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0010g0131 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0152 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0049g0068 | 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 | a0001c0001t0019g0032 | 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 | a0001c0001t0002g0162 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2152+457G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18610027 | |||||||
| chrX:18610209 | T | C | 1 | a0001c0001t0007g0151 | 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 | a0001c0001t0001g0161 | 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 | a0001c0001t0014g0001 a0001c0001t0034g0012 a0001c0001t0035g0146 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0054g0005 | 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 | a0001c0001t0001g0079 | 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 | a0001c0001t0043g0122 | 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 | a0001c0001t0036g0153 | 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 | CAA | 5 | a0001c0001t0001g0159 a0001c0001t0002g0154 a0001c0001t0002g0156 others(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:18611922 | T | C | 2 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
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 | a0001c0001t0005g0072 | 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 | a0001c0001t0002g0106 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2153-935A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 14/17 | chrX | 18612217 | |||||||
| chrX:18612667 | A | AG | 3 | a0001c0001t0011g0104 a0001c0001t0022g0065 a0001c0001t0023g0015 |
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:18612669 | G | A | 5 | a0001c0001t0036g0153 a0001c0001t0054g0005 a0001c0002t0014g0002 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0014g0001 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0003g0100 others(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:18613110 | A | G | 4 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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:18613510 | A | G | 9 | a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 others(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 | a0001c0001t0023g0036 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0164 | 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 | a0001c0001t0001g0161 | 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 | a0001c0001t0002g0156 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0036g0153 | 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 | a0001c0001t0038g0063 | 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 | a0001c0001t0019g0032 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2276+2818A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18616093 | |||||||
| chrX:18616624 | TA | T | 6 | a0001c0001t0001g0135 a0001c0001t0004g0164 a0001c0001t0011g0009 others(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:18616767 | C | T | 1 | a0001c0001t0050g0142 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0149 others(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:18617233 | G | T | 2 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0009g0116 a0001c0001t0009g0118 |
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 | a0001c0001t0014g0001 a0001c0002t0014g0002 a0001c0002t0014g0003 others(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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2277-1930A>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 15/17 | chrX | 18617937 | |||||||
| chrX:18618339 | G | A | 4 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 others(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 | a0001c0001t0054g0005 | 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 | a0001c0001t0027g0174 | 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 | a0001c0001t0003g0054 | 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 | a0001c0002t0014g0002 a0001c0002t0014g0003 a0001c0002t0032g0004 |
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 | a0001c0001t0003g0061 a0001c0001t0005g0086 a0001c0001t0010g0132 others(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:18619214 | A | G | 1 | a0001c0001t0002g0137 | 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 | a0001c0004t0002g0006 | 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 | 130 | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(127): Show |
130 | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(127): 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 | a0001c0001t0036g0153 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2376+158A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18620124 | |||||||
| chrX:18620498 | C | T | 1 | a0001c0001t0001g0161 | 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 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0037g0130 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0004g0184 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | 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 | a0001c0001t0002g0028 a0001c0001t0002g0031 |
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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0001g0141 a0001c0001t0002g0045 |
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 | a0001c0001t0037g0130 | 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 | a0001c0001t0002g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 others(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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2377-2409G>A | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18622719 | |||||||
| chrX:18623833 | C | CT | 6 | a0001c0001t0002g0030 a0001c0001t0014g0001 a0001c0001t0036g0153 others(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 | a0001c0001t0001g0042 a0001c0001t0001g0079 a0001c0001t0010g0131 others(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:18624182 | A | T | 1 | a0001c0001t0014g0001 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2377-946A>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 16/17 | chrX | 18624182 | |||||||
| chrX:18624886 | C | A | 4 | a0001c0001t0001g0129 a0001c0001t0009g0116 a0001c0001t0009g0118 others(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 | a0001c0001t0011g0009 a0001c0001t0024g0093 a0001c0001t0024g0094 others(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:18625337 | T | C | 1 | a0001c0001t0015g0081 | 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 | a0001c0001t0001g0040 | 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 | a0001c0001t0054g0005 | 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 | a0001c0001t0011g0009 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18626066 | G | GT | 22 | a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0089 others(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 | a0001c0001t0002g0033 a0001c0001t0004g0164 a0001c0001t0010g0134 others(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:18626351 | G | A | 2 | a0001c0001t0002g0189 a0001c0001t0002g0190 |
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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2496+1344T>C | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626591 | |||||||
| chrX:18626660 | CCCTCTCT others(6): Show |
C | 1 | a0001c0001t0041g0013 | 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 | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0109 others(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 | 11 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 others(8): Show |
11 | HG01071.hp1 HG01167.hp1 HG01192.hp1 others(8): 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 | a0001c0001t0001g0113 a0001c0001t0002g0126 a0001c0001t0005g0008 |
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 | a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0002g0117 others(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 | a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0002g0007 others(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 | a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0008g0010 others(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 | a0001c0001t0001g0136 a0001c0001t0002g0143 a0001c0001t0002g0160 others(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 | a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0022g0065 others(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 | a0001c0001t0008g0155 a0001c0004t0002g0006 |
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 | a0001c0001t0023g0015 | 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 | a0001c0001t0015g0115 | 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 | a0001c0001t0002g0030 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2496+1414C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18626661 | |||||||
| chrX:18626661 | CCTCT | C | 3 | a0001c0001t0001g0083 a0001c0001t0010g0132 a0001c0001t0011g0091 |
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 | a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0190 others(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 | a0001c0001t0001g0017 a0001c0001t0003g0061 a0001c0001t0004g0191 others(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 | a0001c0001t0001g0039 a0001c0001t0001g0089 a0001c0001t0002g0189 others(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 | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0005g0086 others(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 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0090 others(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 | a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0095 others(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 | a0001c0001t0005g0049 | 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 | a0001c0001t0050g0142 | 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 | a0001c0001t0001g0141 | 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:18626701 | TCTCTCTC others(8): Show |
T | 1 | a0001c0001t0001g0079 | 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 | a0001c0001t0009g0097 | 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 | a0001c0001t0004g0183 | 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(4): Show |
C | 4 | a0001c0001t0004g0175 a0001c0001t0004g0182 a0001c0001t0016g0187 others(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 | a0001c0002t0032g0004 | 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 | a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 others(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 | a0001c0001t0012g0168 a0001c0001t0027g0174 |
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 | a0001c0001t0004g0181 a0001c0001t0025g0173 |
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:18626718 | CTCT | C | 2 | a0001c0001t0004g0163 a0001c0001t0013g0178 |
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 | a0001c0001t0002g0189 a0001c0001t0002g0190 |
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:18626721 | T | C | 3 | a0001c0001t0011g0152 a0001c0001t0012g0170 a0001c0001t0016g0186 |
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:18626723 | T | C | 25 | a0001c0001t0003g0016 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | TCTCTCTC others(5): Show |
1 | a0001c0001t0007g0150 | 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 | a0001c0001t0007g0147 a0001c0001t0007g0149 |
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 | a0001c0001t0007g0148 | 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:18626724 | C | CTCTCTCT others(8): Show |
1 | a0001c0001t0001g0159 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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 | a0001c0001t0014g0001 | 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 | a0001c0001t0001g0040 a0001c0001t0003g0016 a0001c0001t0005g0075 others(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 | a0001c0001t0004g0169 a0001c0001t0004g0175 a0001c0001t0004g0176 others(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 | a0001c0001t0016g0187 | 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 | a0001c0001t0003g0016 a0001c0001t0004g0163 a0001c0001t0004g0164 others(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 | a0001c0001t0001g0040 a0001c0001t0004g0185 a0001c0001t0013g0084 others(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 | 45 | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0046 others(42): Show |
45 | HG00609.hp1 HG00621.hp1 HG01069.hp1 others(42): 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 | TC | T | 17 | a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0079 others(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 | T | 7 | a0001c0001t0001g0040 a0001c0001t0004g0185 a0001c0001t0013g0084 others(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 | a0001c0001t0001g0040 a0001c0001t0001g0096 a0001c0001t0001g0113 others(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:18627193 | G | A | 4 | a0001c0001t0001g0056 a0001c0001t0003g0047 a0001c0001t0005g0049 others(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:18627439 | A | G | 55 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(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 | a0001c0001t0004g0185 | 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 | a0001c0001t0023g0036 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2497-728A>G | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18627643 | |||||||
| chrX:18627793 | G | A | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0002g0126 others(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 | a0001c0001t0054g0005 | 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 | 33 | a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0169 others(30): Show |
33 | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.2497-559delA | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | 18627794 | ||||||
| chrX:18627795 | A | C | 1 | a0001c0001t0054g0005 | 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 | a0001c0001t0008g0155 | 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 | a0001c0001t0034g0012 a0001c0001t0035g0146 |
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:18628237 | T | A | 1 | a0001c0001t0036g0153 | 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 | a0001c0001t0054g0005 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2497-104C>T | CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | 18628267 |