WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647192_18647333del | CA2695231598 | CDKL5,RS1 | c.185_326del c.2797+1102_2797+1243del (n.2797+1102_2797+1243del) n.676_817del c.2869+1102_2869+1243del (n.2869+1102_2869+1243del) c.2788+1102_2788+1243del (n.2788+1102_2788+1243del) n.3172+1102_3172+1243del | |
| X | g.18647236_18647238del | CA2580615398 | CDKL5,RS1 | c.282_284del (p.Ser95del) c.2797+1146_2797+1148del (n.2797+1146_2797+1148del) n.773_775del c.2869+1146_2869+1148del (n.2869+1146_2869+1148del) c.2788+1146_2788+1148del (n.2788+1146_2788+1148del) n.3172+1146_3172+1148del | ClinVar |
| X | g.18647238_18647240del | CA2580100416 | CDKL5,RS1 | c.278_280del (p.Tyr93del) c.2797+1148_2797+1150del (n.2797+1148_2797+1150del) n.769_771del c.2869+1148_2869+1150del (n.2869+1148_2869+1150del) c.2788+1148_2788+1150del (n.2788+1148_2788+1150del) n.3172+1148_3172+1150del | ClinVar |
| X | g.18647238A= | CA2417988235 | CDKL5,RS1 | c.279T= (p.Tyr93=) c.2797+1148A= (n.2797+1148A=) n.770T= c.2869+1148A= (n.2869+1148A=) c.2788+1148A= (n.2788+1148A=) n.3172+1148A= | |
| X | g.18647238A>C | CA412372796 | CDKL5,RS1 | c.279T>G (p.Tyr93Ter) c.2797+1148A>C (n.2797+1148A>C) n.770T>G c.2869+1148A>C (n.2869+1148A>C) c.2788+1148A>C (n.2788+1148A>C) n.3172+1148A>C | |
| X | g.18647238A>G | CA515475113 | CDKL5,RS1 | c.279T>C (p.Tyr93=) c.2797+1148A>G (n.2797+1148A>G) n.770T>C c.2869+1148A>G (n.2869+1148A>G) c.2788+1148A>G (n.2788+1148A>G) n.3172+1148A>G | ClinVar gnomAD v4 |
| X | g.18647238A>T | CA16608369 | CDKL5,RS1 | c.279T>A (p.Tyr93Ter) c.2797+1148A>T (n.2797+1148A>T) n.770T>A c.2869+1148A>T (n.2869+1148A>T) c.2788+1148A>T (n.2788+1148A>T) n.3172+1148A>T | ClinVar dbSNP |
| X | g.18647239T>A | CA412372800 | CDKL5,RS1 | c.278A>T (p.Tyr93Phe) c.2797+1149T>A (n.2797+1149T>A) n.769A>T c.2869+1149T>A (n.2869+1149T>A) c.2788+1149T>A (n.2788+1149T>A) n.3172+1149T>A | |
| X | g.18647239T>C | CA412372797 | CDKL5,RS1 | c.278A>G (p.Tyr93Cys) c.2797+1149T>C (n.2797+1149T>C) n.769A>G c.2869+1149T>C (n.2869+1149T>C) c.2788+1149T>C (n.2788+1149T>C) n.3172+1149T>C | COSMIC |
| X | g.18647239T>G | CA412372798 | CDKL5,RS1 | c.278A>C (p.Tyr93Ser) c.2797+1149T>G (n.2797+1149T>G) n.769A>C c.2869+1149T>G (n.2869+1149T>G) c.2788+1149T>G (n.2788+1149T>G) n.3172+1149T>G | |
| X | g.18647239_18647240delinsTA | CA2417988236 | CDKL5,RS1 | c.277_278delinsTA (p.Tyr93=) c.2797+1149_2797+1150delinsTA (n.2797+1149_2797+1150delinsTA) n.768_769delinsTA c.2869+1149_2869+1150delinsTA (n.2869+1149_2869+1150delinsTA) c.2788+1149_2788+1150delinsTA (n.2788+1149_2788+1150delinsTA) n.3172+1149_3172+1150delinsTA | |
| X | g.18647240del | CA2417988238 | CDKL5,RS1 | c.277del (p.Tyr93IlefsTer?) c.2797+1150del (n.2797+1150del) n.768del c.2869+1150del (n.2869+1150del) c.2788+1150del (n.2788+1150del) n.3172+1150del | dbSNP |
| X | g.18647240A= | CA2417988237 | CDKL5,RS1 | c.277T= (p.Tyr93=) c.2797+1150A= (n.2797+1150A=) n.768T= c.2869+1150A= (n.2869+1150A=) c.2788+1150A= (n.2788+1150A=) n.3172+1150A= | |
| X | g.18647240A>C | CA412372802 | CDKL5,RS1 | c.277T>G (p.Tyr93Asp) c.2797+1150A>C (n.2797+1150A>C) n.768T>G c.2869+1150A>C (n.2869+1150A>C) c.2788+1150A>C (n.2788+1150A>C) n.3172+1150A>C | |
| X | g.18647240A>G | CA412372804 | CDKL5,RS1 | c.277T>C (p.Tyr93His) c.2797+1150A>G (n.2797+1150A>G) n.768T>C c.2869+1150A>G (n.2869+1150A>G) c.2788+1150A>G (n.2788+1150A>G) n.3172+1150A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18647240A>T | CA412372805 | CDKL5,RS1 | c.277T>A (p.Tyr93Asn) c.2797+1150A>T (n.2797+1150A>T) n.768T>A c.2869+1150A>T (n.2869+1150A>T) c.2788+1150A>T (n.2788+1150A>T) n.3172+1150A>T | |
| X | g.18647241C>A | CA412372809 | CDKL5,RS1 | c.276G>T (p.Trp92Cys) c.2797+1151C>A (n.2797+1151C>A) n.767G>T c.2869+1151C>A (n.2869+1151C>A) c.2788+1151C>A (n.2788+1151C>A) n.3172+1151C>A | |
| X | g.18647241C= | CA2417988239 | CDKL5,RS1 | c.276G= (p.Trp92=) c.2797+1151C= (n.2797+1151C=) n.767G= c.2869+1151C= (n.2869+1151C=) c.2788+1151C= (n.2788+1151C=) n.3172+1151C= | |
| X | g.18647241C>G | CA226650 | CDKL5,RS1 | c.276G>C (p.Trp92Cys) c.2797+1151C>G (n.2797+1151C>G) n.767G>C c.2869+1151C>G (n.2869+1151C>G) c.2788+1151C>G (n.2788+1151C>G) n.3172+1151C>G | ClinVar dbSNP |
| X | g.18647241C>T | CA412372807 | CDKL5,RS1 | c.276G>A (p.Trp92Ter) c.2797+1151C>T (n.2797+1151C>T) n.767G>A c.2869+1151C>T (n.2869+1151C>T) c.2788+1151C>T (n.2788+1151C>T) n.3172+1151C>T | |
| X | g.18647242C>A | CA412372811 | CDKL5,RS1 | c.275G>T (p.Trp92Leu) c.2797+1152C>A (n.2797+1152C>A) n.766G>T c.2869+1152C>A (n.2869+1152C>A) c.2788+1152C>A (n.2788+1152C>A) n.3172+1152C>A | ClinVar |
| X | g.18647242C>G | CA412372813 | CDKL5,RS1 | c.275G>C (p.Trp92Ser) c.2797+1152C>G (n.2797+1152C>G) n.766G>C c.2869+1152C>G (n.2869+1152C>G) c.2788+1152C>G (n.2788+1152C>G) n.3172+1152C>G | |
| X | g.18647242C>T | CA412372814 | CDKL5,RS1 | c.275G>A (p.Trp92Ter) c.2797+1152C>T (n.2797+1152C>T) n.766G>A c.2869+1152C>T (n.2869+1152C>T) c.2788+1152C>T (n.2788+1152C>T) n.3172+1152C>T | |
| X | g.18647243A>C | CA412372816 | CDKL5,RS1 | c.274T>G (p.Trp92Gly) c.2797+1153A>C (n.2797+1153A>C) n.765T>G c.2869+1153A>C (n.2869+1153A>C) c.2788+1153A>C (n.2788+1153A>C) n.3172+1153A>C | ClinVar dbSNP |
| X | g.18647243A>G | CA412372817 | CDKL5,RS1 | c.274T>C (p.Trp92Arg) c.2797+1153A>G (n.2797+1153A>G) n.765T>C c.2869+1153A>G (n.2869+1153A>G) c.2788+1153A>G (n.2788+1153A>G) n.3172+1153A>G | |
| X | g.18647243A>T | CA412372819 | CDKL5,RS1 | c.274T>A (p.Trp92Arg) c.2797+1153A>T (n.2797+1153A>T) n.765T>A c.2869+1153A>T (n.2869+1153A>T) c.2788+1153A>T (n.2788+1153A>T) n.3172+1153A>T | |
| X | g.18647244G>A | CA515475141 | CDKL5,RS1 | c.273C>T (p.Gly91=) c.2797+1154G>A (n.2797+1154G>A) n.764C>T c.2869+1154G>A (n.2869+1154G>A) c.2788+1154G>A (n.2788+1154G>A) n.3172+1154G>A | |
| X | g.18647244G>C | CA515475142 | CDKL5,RS1 | c.273C>G (p.Gly91=) c.2797+1154G>C (n.2797+1154G>C) n.764C>G c.2869+1154G>C (n.2869+1154G>C) c.2788+1154G>C (n.2788+1154G>C) n.3172+1154G>C | |
| X | g.18647244G>T | CA515475145 | CDKL5,RS1 | c.273C>A (p.Gly91=) c.2797+1154G>T (n.2797+1154G>T) n.764C>A c.2869+1154G>T (n.2869+1154G>T) c.2788+1154G>T (n.2788+1154G>T) n.3172+1154G>T | |
| X | g.18647245C>A | CA412372822 | CDKL5,RS1 | c.272G>T (p.Gly91Val) c.2797+1155C>A (n.2797+1155C>A) n.763G>T c.2869+1155C>A (n.2869+1155C>A) c.2788+1155C>A (n.2788+1155C>A) n.3172+1155C>A | |
| X | g.18647245C= | CA2417988240 | CDKL5,RS1 | c.272G= (p.Gly91=) c.2797+1155C= (n.2797+1155C=) n.763G= c.2869+1155C= (n.2869+1155C=) c.2788+1155C= (n.2788+1155C=) n.3172+1155C= | |
| X | g.18647245C>G | CA10360707 | CDKL5,RS1 | c.272G>C (p.Gly91Ala) c.2797+1155C>G (n.2797+1155C>G) n.763G>C c.2869+1155C>G (n.2869+1155C>G) c.2788+1155C>G (n.2788+1155C>G) n.3172+1155C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18647245C>T | CA327012311 | CDKL5,RS1 | c.272G>A (p.Gly91Asp) c.2797+1155C>T (n.2797+1155C>T) n.763G>A c.2869+1155C>T (n.2869+1155C>T) c.2788+1155C>T (n.2788+1155C>T) n.3172+1155C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18647246C>A | CA412372824 | CDKL5,RS1 | c.271G>T (p.Gly91Cys) c.2797+1156C>A (n.2797+1156C>A) n.762G>T c.2869+1156C>A (n.2869+1156C>A) c.2788+1156C>A (n.2788+1156C>A) n.3172+1156C>A | |
| X | g.18647246C= | CA2417988241 | CDKL5,RS1 | c.271G= (p.Gly91=) c.2797+1156C= (n.2797+1156C=) n.762G= c.2869+1156C= (n.2869+1156C=) c.2788+1156C= (n.2788+1156C=) n.3172+1156C= | |
| X | g.18647246C>G | CA412372826 | CDKL5,RS1 | c.271G>C (p.Gly91Arg) c.2797+1156C>G (n.2797+1156C>G) n.762G>C c.2869+1156C>G (n.2869+1156C>G) c.2788+1156C>G (n.2788+1156C>G) n.3172+1156C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18647246C>T | CA412372827 | CDKL5,RS1 | c.271G>A (p.Gly91Ser) c.2797+1156C>T (n.2797+1156C>T) n.762G>A c.2869+1156C>T (n.2869+1156C>T) c.2788+1156C>T (n.2788+1156C>T) n.3172+1156C>T | |
| X | g.18647247C>A | CA515475164 | CDKL5,RS1 | c.270G>T (p.Val90=) c.2797+1157C>A (n.2797+1157C>A) n.761G>T c.2869+1157C>A (n.2869+1157C>A) c.2788+1157C>A (n.2788+1157C>A) n.3172+1157C>A | |
| X | g.18647247C>G | CA515475162 | CDKL5,RS1 | c.270G>C (p.Val90=) c.2797+1157C>G (n.2797+1157C>G) n.761G>C c.2869+1157C>G (n.2869+1157C>G) c.2788+1157C>G (n.2788+1157C>G) n.3172+1157C>G | |
| X | g.18647247C>T | CA515475159 | CDKL5,RS1 | c.270G>A (p.Val90=) c.2797+1157C>T (n.2797+1157C>T) n.761G>A c.2869+1157C>T (n.2869+1157C>T) c.2788+1157C>T (n.2788+1157C>T) n.3172+1157C>T | |
| X | g.18647248A>C | CA412372829 | CDKL5,RS1 | c.269T>G (p.Val90Gly) c.2797+1158A>C (n.2797+1158A>C) n.760T>G c.2869+1158A>C (n.2869+1158A>C) c.2788+1158A>C (n.2788+1158A>C) n.3172+1158A>C | |
| X | g.18647248A>G | CA412372830 | CDKL5,RS1 | c.269T>C (p.Val90Ala) c.2797+1158A>G (n.2797+1158A>G) n.760T>C c.2869+1158A>G (n.2869+1158A>G) c.2788+1158A>G (n.2788+1158A>G) n.3172+1158A>G | gnomAD v4 |
| X | g.18647248A>T | CA412372832 | CDKL5,RS1 | c.269T>A (p.Val90Glu) c.2797+1158A>T (n.2797+1158A>T) n.760T>A c.2869+1158A>T (n.2869+1158A>T) c.2788+1158A>T (n.2788+1158A>T) n.3172+1158A>T | |
| X | g.18647249C>A | CA412372833 | CDKL5,RS1 | c.268G>T (p.Val90Leu) c.2797+1159C>A (n.2797+1159C>A) n.759G>T c.2869+1159C>A (n.2869+1159C>A) c.2788+1159C>A (n.2788+1159C>A) n.3172+1159C>A | |
| X | g.18647249C= | CA2417988242 | CDKL5,RS1 | c.268G= (p.Val90=) c.2797+1159C= (n.2797+1159C=) n.759G= c.2869+1159C= (n.2869+1159C=) c.2788+1159C= (n.2788+1159C=) n.3172+1159C= | |
| X | g.18647249C>G | CA412372835 | CDKL5,RS1 | c.268G>C (p.Val90Leu) c.2797+1159C>G (n.2797+1159C>G) n.759G>C c.2869+1159C>G (n.2869+1159C>G) c.2788+1159C>G (n.2788+1159C>G) n.3172+1159C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18647249C>T | CA412372836 | CDKL5,RS1 | c.268G>A (p.Val90Met) c.2797+1159C>T (n.2797+1159C>T) n.759G>A c.2869+1159C>T (n.2869+1159C>T) c.2788+1159C>T (n.2788+1159C>T) n.3172+1159C>T | |
| X | g.18647250A= | CA2417988243 | CDKL5,RS1 | c.267T= (p.Tyr89=) c.2797+1160A= (n.2797+1160A=) n.758T= c.2869+1160A= (n.2869+1160A=) c.2788+1160A= (n.2788+1160A=) n.3172+1160A= | |
| X | g.18647250A>C | CA412372838 | CDKL5,RS1 | c.267T>G (p.Tyr89Ter) c.2797+1160A>C (n.2797+1160A>C) n.758T>G c.2869+1160A>C (n.2869+1160A>C) c.2788+1160A>C (n.2788+1160A>C) n.3172+1160A>C | |
| X | g.18647250A>G | CA10360708 | CDKL5,RS1 | c.267T>C (p.Tyr89=) c.2797+1160A>G (n.2797+1160A>G) n.758T>C c.2869+1160A>G (n.2869+1160A>G) c.2788+1160A>G (n.2788+1160A>G) n.3172+1160A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |