| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150959701C>A | CA369863859 | KCNH2 | n.1176G>T c.343G>T (p.Val115Leu) c.166G>T (p.Val56Leu) n.566G>T c.43G>T (p.Val15Leu) c.193G>T (p.Val65Leu) | |
| 7 | g.150959701C= | CA1752420075 | KCNH2 | n.1176G= c.343G= (p.Val115=) c.166G= (p.Val56=) n.566G= c.43G= (p.Val15=) c.193G= (p.Val65=) | |
| 7 | g.150959701C>G | CA369863860 | KCNH2 | n.1176G>C c.343G>C (p.Val115Leu) c.166G>C (p.Val56Leu) n.566G>C c.43G>C (p.Val15Leu) c.193G>C (p.Val65Leu) | |
| 7 | g.150959701C>T | CA008314 | KCNH2 | n.1176G>A c.343G>A (p.Val115Met) c.166G>A (p.Val56Met) n.566G>A c.43G>A (p.Val15Met) c.193G>A (p.Val65Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150959702G>A | CA008300 | KCNH2 | n.1175C>T c.342C>T (p.Pro114=) c.165C>T (p.Pro55=) n.565C>T c.42C>T (p.Pro14=) c.192C>T (p.Pro64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150959702G>C | CA458646958 | KCNH2 | n.1175C>G c.342C>G (p.Pro114=) c.165C>G (p.Pro55=) n.565C>G c.42C>G (p.Pro14=) c.192C>G (p.Pro64=) | |
| 7 | g.150959702G= | CA1752420081 | KCNH2 | n.1175C= c.342C= (p.Pro114=) c.165C= (p.Pro55=) n.565C= c.42C= (p.Pro14=) c.192C= (p.Pro64=) | |
| 7 | g.150959702G>T | CA458646959 | KCNH2 | n.1175C>A c.342C>A (p.Pro114=) c.165C>A (p.Pro55=) n.565C>A c.42C>A (p.Pro14=) c.192C>A (p.Pro64=) | gnomAD v4 |
| 7 | g.150959703G>A | CA369863861 | KCNH2 | n.1174C>T c.341C>T (p.Pro114Leu) c.164C>T (p.Pro55Leu) n.564C>T c.41C>T (p.Pro14Leu) c.191C>T (p.Pro64Leu) | |
| 7 | g.150959703G>C | CA008293 | KCNH2 | n.1174C>G c.341C>G (p.Pro114Arg) c.164C>G (p.Pro55Arg) n.564C>G c.41C>G (p.Pro14Arg) c.191C>G (p.Pro64Arg) | dbSNP gnomAD v4 |
| 7 | g.150959703G= | CA1752420085 | KCNH2 | n.1174C= c.341C= (p.Pro114=) c.164C= (p.Pro55=) n.564C= c.41C= (p.Pro14=) c.191C= (p.Pro64=) | |
| 7 | g.150959703G>T | CA369863862 | KCNH2 | n.1174C>A c.341C>A (p.Pro114His) c.164C>A (p.Pro55His) n.564C>A c.41C>A (p.Pro14His) c.191C>A (p.Pro64His) | |
| 7 | g.150959704G>A | CA008285 | KCNH2 | n.1173C>T c.340C>T (p.Pro114Ser) c.163C>T (p.Pro55Ser) n.563C>T c.40C>T (p.Pro14Ser) c.190C>T (p.Pro64Ser) | ClinVar dbSNP |
| 7 | g.150959704G>C | CA369863864 | KCNH2 | n.1173C>G c.340C>G (p.Pro114Ala) c.163C>G (p.Pro55Ala) n.563C>G c.40C>G (p.Pro14Ala) c.190C>G (p.Pro64Ala) | |
| 7 | g.150959704G= | CA1752420091 | KCNH2 | n.1173C= c.340C= (p.Pro114=) c.163C= (p.Pro55=) n.563C= c.40C= (p.Pro14=) c.190C= (p.Pro64=) | |
| 7 | g.150959704G>T | CA369863863 | KCNH2 | n.1173C>A c.340C>A (p.Pro114Thr) c.163C>A (p.Pro55Thr) n.563C>A c.40C>A (p.Pro14Thr) c.190C>A (p.Pro64Thr) | |
| 7 | g.150959705C>A | CA458646967 | KCNH2 | n.1172G>T c.339G>T (p.Val113=) c.162G>T (p.Val54=) n.562G>T c.39G>T (p.Val13=) c.189G>T (p.Val63=) | |
| 7 | g.150959705C= | CA1752420094 | KCNH2 | n.1172G= c.339G= (p.Val113=) c.162G= (p.Val54=) n.562G= c.39G= (p.Val13=) c.189G= (p.Val63=) | |
| 7 | g.150959705C>G | CA458646970 | KCNH2 | n.1172G>C c.339G>C (p.Val113=) c.162G>C (p.Val54=) n.562G>C c.39G>C (p.Val13=) c.189G>C (p.Val63=) | |
| 7 | g.150959705C>T | CA038920 | KCNH2 | n.1172G>A c.339G>A (p.Val113=) c.162G>A (p.Val54=) n.562G>A c.39G>A (p.Val13=) c.189G>A (p.Val63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150959708_150959710del | CA658761344 | KCNH2 | n.1170_1172del c.337_339del (p.Val113del) c.160_162del (p.Val54del) n.560_562del c.37_39del (p.Val13del) c.187_189del (p.Val63del) | |
| 7 | g.150959706A= | CA1752420096 | KCNH2 | n.1171T= c.338T= (p.Val113=) c.161T= (p.Val54=) n.561T= c.38T= (p.Val13=) c.188T= (p.Val63=) | |
| 7 | g.150959706A>C | CA369863865 | KCNH2 | n.1171T>G c.338T>G (p.Val113Gly) c.161T>G (p.Val54Gly) n.561T>G c.38T>G (p.Val13Gly) c.188T>G (p.Val63Gly) | dbSNP |
| 7 | g.150959706A>G | CA369863866 | KCNH2 | n.1171T>C c.338T>C (p.Val113Ala) c.161T>C (p.Val54Ala) n.561T>C c.38T>C (p.Val13Ala) c.188T>C (p.Val63Ala) | |
| 7 | g.150959706A>T | CA369863867 | KCNH2 | n.1171T>A c.338T>A (p.Val113Glu) c.161T>A (p.Val54Glu) n.561T>A c.38T>A (p.Val13Glu) c.188T>A (p.Val63Glu) | |
| 7 | g.150959707C>A | CA369863868 | KCNH2 | n.1170G>T c.337G>T (p.Val113Leu) c.160G>T (p.Val54Leu) n.560G>T c.37G>T (p.Val13Leu) c.187G>T (p.Val63Leu) | |
| 7 | g.150959707C>G | CA369863870 | KCNH2 | n.1170G>C c.337G>C (p.Val113Leu) c.160G>C (p.Val54Leu) n.560G>C c.37G>C (p.Val13Leu) c.187G>C (p.Val63Leu) | |
| 7 | g.150959707C>T | CA369863869 | KCNH2 | n.1170G>A c.337G>A (p.Val113Met) c.160G>A (p.Val54Met) n.560G>A c.37G>A (p.Val13Met) c.187G>A (p.Val63Met) | |
| 7 | g.150959708_150959714dup | CA16618416 | KCNH2 | n.1164_1170dup c.331_337dup (p.Val113GlyfsTer?) c.154_160dup (p.Val54GlyfsTer?) n.554_560dup c.31_37dup (p.Val13GlyfsTer?) c.181_187dup (p.Val63GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150959708C>A | CA458646972 | KCNH2 | n.1169G>T c.336G>T (p.Val112=) c.159G>T (p.Val53=) n.559G>T c.36G>T (p.Val12=) c.186G>T (p.Val62=) | |
| 7 | g.150959708C>G | CA458646973 | KCNH2 | n.1169G>C c.336G>C (p.Val112=) c.159G>C (p.Val53=) n.559G>C c.36G>C (p.Val12=) c.186G>C (p.Val62=) | |
| 7 | g.150959708C>T | CA458646974 | KCNH2 | n.1169G>A c.336G>A (p.Val112=) c.159G>A (p.Val53=) n.559G>A c.36G>A (p.Val12=) c.186G>A (p.Val62=) | |
| 7 | g.150959709A>C | CA369863871 | KCNH2 | n.1168T>G c.335T>G (p.Val112Gly) c.158T>G (p.Val53Gly) n.558T>G c.35T>G (p.Val12Gly) c.185T>G (p.Val62Gly) | |
| 7 | g.150959709A>G | CA369863872 | KCNH2 | n.1168T>C c.335T>C (p.Val112Ala) c.158T>C (p.Val53Ala) n.558T>C c.35T>C (p.Val12Ala) c.185T>C (p.Val62Ala) | |
| 7 | g.150959709A>T | CA369863873 | KCNH2 | n.1168T>A c.335T>A (p.Val112Glu) c.158T>A (p.Val53Glu) n.558T>A c.35T>A (p.Val12Glu) c.185T>A (p.Val62Glu) | |
| 7 | g.150959710C>A | CA369863874 | KCNH2 | n.1167G>T c.334G>T (p.Val112Leu) c.157G>T (p.Val53Leu) n.557G>T c.34G>T (p.Val12Leu) c.184G>T (p.Val62Leu) | |
| 7 | g.150959710C= | CA1752420103 | KCNH2 | n.1167G= c.334G= (p.Val112=) c.157G= (p.Val53=) n.557G= c.34G= (p.Val12=) c.184G= (p.Val62=) | |
| 7 | g.150959710C>G | CA369863875 | KCNH2 | n.1167G>C c.334G>C (p.Val112Leu) c.157G>C (p.Val53Leu) n.557G>C c.34G>C (p.Val12Leu) c.184G>C (p.Val62Leu) | |
| 7 | g.150959710C>T | CA038790 | KCNH2 | n.1167G>A c.334G>A (p.Val112Met) c.157G>A (p.Val53Met) n.557G>A c.34G>A (p.Val12Met) c.184G>A (p.Val62Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150959711A>C | CA369863876 | KCNH2 | n.1166T>G c.333T>G (p.Asp111Glu) c.156T>G (p.Asp52Glu) n.556T>G c.33T>G (p.Asp11Glu) c.183T>G (p.Asp61Glu) | |
| 7 | g.150959711A>G | CA458646978 | KCNH2 | n.1166T>C c.333T>C (p.Asp111=) c.156T>C (p.Asp52=) n.556T>C c.33T>C (p.Asp11=) c.183T>C (p.Asp61=) | |
| 7 | g.150959711A>T | CA369863877 | KCNH2 | n.1166T>A c.333T>A (p.Asp111Glu) c.156T>A (p.Asp52Glu) n.556T>A c.33T>A (p.Asp11Glu) c.183T>A (p.Asp61Glu) | |
| 7 | g.150959712T>A | CA008196 | KCNH2 | n.1165A>T c.332A>T (p.Asp111Val) c.155A>T (p.Asp52Val) n.555A>T c.32A>T (p.Asp11Val) c.182A>T (p.Asp61Val) | ClinVar dbSNP |
| 7 | g.150959712T>C | CA369863878 | KCNH2 | n.1165A>G c.332A>G (p.Asp111Gly) c.155A>G (p.Asp52Gly) n.555A>G c.32A>G (p.Asp11Gly) c.182A>G (p.Asp61Gly) | |
| 7 | g.150959712T>G | CA369863879 | KCNH2 | n.1165A>C c.332A>C (p.Asp111Ala) c.155A>C (p.Asp52Ala) n.555A>C c.32A>C (p.Asp11Ala) c.182A>C (p.Asp61Ala) | |
| 7 | g.150959712T= | CA1752420107 | KCNH2 | n.1165A= c.332A= (p.Asp111=) c.155A= (p.Asp52=) n.555A= c.32A= (p.Asp11=) c.182A= (p.Asp61=) | |
| 7 | g.150959713C>A | CA369863880 | KCNH2 | n.1164G>T c.331G>T (p.Asp111Tyr) c.154G>T (p.Asp52Tyr) n.554G>T c.31G>T (p.Asp11Tyr) c.181G>T (p.Asp61Tyr) | |
| 7 | g.150959713C= | CA1752420111 | KCNH2 | n.1164G= c.331G= (p.Asp111=) c.154G= (p.Asp52=) n.554G= c.31G= (p.Asp11=) c.181G= (p.Asp61=) | |
| 7 | g.150959713C>G | CA369863882 | KCNH2 | n.1164G>C c.331G>C (p.Asp111His) c.154G>C (p.Asp52His) n.554G>C c.31G>C (p.Asp11His) c.181G>C (p.Asp61His) | |
| 7 | g.150959713C>T | CA369863881 | KCNH2 | n.1164G>A c.331G>A (p.Asp111Asn) c.154G>A (p.Asp52Asn) n.554G>A c.31G>A (p.Asp11Asn) c.181G>A (p.Asp61Asn) | ClinVar dbSNP |