Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2445371_2445397delinsGG | CA658761316 | KCNQ1 | c.24-12_38delinsGG c.273_299delinsGG (p.Ser92GlyfsTer?) n.50_76delinsGG | |
11 | g.2445372T>A | CA379117130 | KCNQ1 | c.24-11T>A (n.24-11T>A) c.274T>A (p.Ser92Thr) n.51T>A | |
11 | g.2445372T>C | CA034728 | KCNQ1 | c.24-11T>C (n.24-11T>C) c.274T>C (p.Ser92Pro) n.51T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445372T>G | CA379117134 | KCNQ1 | c.24-11T>G (n.24-11T>G) c.274T>G (p.Ser92Ala) n.51T>G | |
11 | g.2445372T= | CA1948160977 | KCNQ1 | c.24-11T= (n.24-11T=) c.274T= (p.Ser92=) n.51T= | |
11 | g.2445373C>A | CA379117139 | KCNQ1 | c.24-10C>A (n.24-10C>A) c.275C>A (p.Ser92Tyr) n.52C>A | gnomAD v4 |
11 | g.2445373C= | CA1948160978 | KCNQ1 | c.24-10C= (n.24-10C=) c.275C= (p.Ser92=) n.52C= | |
11 | g.2445373C>G | CA034747 | KCNQ1 | c.24-10C>G (n.24-10C>G) c.275C>G (p.Ser92Cys) n.52C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445373C>T | CA379117145 | KCNQ1 | c.24-10C>T (n.24-10C>T) c.275C>T (p.Ser92Phe) n.52C>T | gnomAD v4 |
11 | g.2445374C>A | CA472416218 | KCNQ1 | c.24-9C>A (n.24-9C>A) c.276C>A (p.Ser92=) n.53C>A | |
11 | g.2445374C= | CA1948160979 | KCNQ1 | c.24-9C= (n.24-9C=) c.276C= (p.Ser92=) n.53C= | |
11 | g.2445374C>G | CA472416219 | KCNQ1 | c.24-9C>G (n.24-9C>G) c.276C>G (p.Ser92=) n.53C>G | |
11 | g.2445374C>T | CA472416220 | KCNQ1 | c.24-9C>T (n.24-9C>T) c.276C>T (p.Ser92=) n.53C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445375A= | CA1948160980 | KCNQ1 | c.24-8A= (n.24-8A=) c.277A= (p.Ile93=) n.54A= | |
11 | g.2445375A>C | CA379117150 | KCNQ1 | c.24-8A>C (n.24-8A>C) c.277A>C (p.Ile93Leu) n.54A>C | |
11 | g.2445375A>G | CA034762 | KCNQ1 | c.24-8A>G (n.24-8A>G) c.277A>G (p.Ile93Val) n.54A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445375A>T | CA379117155 | KCNQ1 | c.24-8A>T (n.24-8A>T) c.277A>T (p.Ile93Phe) n.54A>T | |
11 | g.2445376T>A | CA379117160 | KCNQ1 | c.24-7T>A (n.24-7T>A) c.278T>A (p.Ile93Asn) n.55T>A | |
11 | g.2445376T>C | CA379117165 | KCNQ1 | c.24-7T>C (n.24-7T>C) c.278T>C (p.Ile93Thr) n.55T>C | gnomAD v4 |
11 | g.2445376T>G | CA379117168 | KCNQ1 | c.24-7T>G (n.24-7T>G) c.278T>G (p.Ile93Ser) n.55T>G | |
11 | g.2445376_2445377delinsTC | CA1948160981 | KCNQ1 | c.24-7_24-6delinsTC (n.24-7_24-6delinsTC) c.278_279delinsTC (p.Ile93=) n.55_56delinsTC | |
11 | g.2445377del | CA034780 | KCNQ1 | c.24-6del (n.24-6del) c.279del (p.Tyr94ThrfsTer?) n.56del | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445377C>A | CA216292828 | KCNQ1 | c.24-6C>A (n.24-6C>A) c.279C>A (p.Ile93=) n.56C>A | dbSNP |
11 | g.2445377C= | CA1948160982 | KCNQ1 | c.24-6C= (n.24-6C=) c.279C= (p.Ile93=) n.56C= | |
11 | g.2445377C>G | CA379117176 | KCNQ1 | c.24-6C>G (n.24-6C>G) c.279C>G (p.Ile93Met) n.56C>G | |
11 | g.2445377C>T | CA472416221 | KCNQ1 | c.24-6C>T (n.24-6C>T) c.279C>T (p.Ile93=) n.56C>T | gnomAD v4 |
11 | g.2445378T>A | CA379117179 | KCNQ1 | c.24-5T>A (n.24-5T>A) c.280T>A (p.Tyr94Asn) n.57T>A | |
11 | g.2445378T>C | CA379117200 | KCNQ1 | c.24-5T>C (n.24-5T>C) c.280T>C (p.Tyr94His) n.57T>C | |
11 | g.2445378T>G | CA379117188 | KCNQ1 | c.24-5T>G (n.24-5T>G) c.280T>G (p.Tyr94Asp) n.57T>G | |
11 | g.2445379A= | CA1948160983 | KCNQ1 | c.24-4A= (n.24-4A=) c.281A= (p.Tyr94=) n.58A= | |
11 | g.2445379A>C | CA379117202 | KCNQ1 | c.24-4A>C (n.24-4A>C) c.281A>C (p.Tyr94Ser) n.58A>C | |
11 | g.2445379A>G | CA034800 | KCNQ1 | c.24-4A>G (n.24-4A>G) c.281A>G (p.Tyr94Cys) n.58A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445379A>T | CA379117204 | KCNQ1 | c.24-4A>T (n.24-4A>T) c.281A>T (p.Tyr94Phe) n.58A>T | |
11 | g.2445380C>A | CA379117210 | KCNQ1 | c.24-3C>A (n.24-3C>A) c.282C>A (p.Tyr94Ter) n.59C>A | |
11 | g.2445380C= | CA1948160984 | KCNQ1 | c.24-3C= (n.24-3C=) c.282C= (p.Tyr94=) n.59C= | |
11 | g.2445380C>G | CA379117223 | KCNQ1 | c.24-3C>G (n.24-3C>G) c.282C>G (p.Tyr94Ter) n.59C>G | |
11 | g.2445380C>T | CA034824 | KCNQ1 | c.24-3C>T (n.24-3C>T) c.282C>T (p.Tyr94=) n.59C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445381A= | CA1948160985 | KCNQ1 | c.24-2A= (n.24-2A=) c.283A= (p.Ser95=) n.60A= | |
11 | g.2445381A>C | CA379117231 | KCNQ1 | c.24-2A>C (n.24-2A>C) c.283A>C (p.Ser95Arg) n.60A>C | |
11 | g.2445381A>G | CA379117232 | KCNQ1 | c.24-2A>G (n.24-2A>G) c.283A>G (p.Ser95Gly) n.60A>G | dbSNP |
11 | g.2445381A>T | CA379117234 | KCNQ1 | c.24-2A>T (n.24-2A>T) c.283A>T (p.Ser95Cys) n.60A>T | |
11 | g.2445382G>A | CA379117236 | KCNQ1 | c.24-1G>A (n.24-1G>A) c.284G>A (p.Ser95Asn) n.61G>A | gnomAD v4 |
11 | g.2445382G>C | CA379117238 | KCNQ1 | c.24-1G>C (n.24-1G>C) c.284G>C (p.Ser95Thr) n.61G>C | |
11 | g.2445382G>T | CA379117240 | KCNQ1 | c.24-1G>T (n.24-1G>T) c.284G>T (p.Ser95Ile) n.61G>T | gnomAD v4 |
11 | g.2445383C>A | CA379117244 | KCNQ1 | c.24C>A (p.Ser8Arg) c.285C>A (p.Ser95Arg) n.62C>A | ClinVar dbSNP |
11 | g.2445383C= | CA1948160986 | KCNQ1 | c.24C= (p.Ser8=) c.285C= (p.Ser95=) n.62C= | |
11 | g.2445383C>G | CA379117247 | KCNQ1 | c.24C>G (p.Ser8Arg) c.285C>G (p.Ser95Arg) n.62C>G | ClinVar |
11 | g.2445383C>T | CA472416222 | KCNQ1 | c.24C>T (p.Ser8=) c.285C>T (p.Ser95=) n.62C>T | gnomAD v4 |
11 | g.2445384A= | CA1948160987 | KCNQ1 | c.25A= (p.Thr9=) c.286A= (p.Thr96=) n.63A= | |
11 | g.2445384A>C | CA379117253 | KCNQ1 | c.25A>C (p.Thr9Pro) c.286A>C (p.Thr96Pro) n.63A>C | |
11 | g.2445384A>G | CA034834 | KCNQ1 | c.25A>G (p.Thr9Ala) c.286A>G (p.Thr96Ala) n.63A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445384A>T | CA379117255 | KCNQ1 | c.25A>T (p.Thr9Ser) c.286A>T (p.Thr96Ser) n.63A>T | |
11 | g.2445384_2445385delinsAC | CA1948160988 | KCNQ1 | c.25_26delinsAC (p.Thr9=) c.286_287delinsAC (p.Thr96=) n.63_64delinsAC | |
11 | g.2445385del | CA006762 | KCNQ1 | c.26del (p.Thr9SerfsTer?) c.287del (p.Thr96SerfsTer?) n.64del | ClinVar dbSNP |
11 | g.2445385C>A | CA379117257 | KCNQ1 | c.26C>A (p.Thr9Lys) c.287C>A (p.Thr96Lys) n.64C>A | |
11 | g.2445385C= | CA1948160989 | KCNQ1 | c.26C= (p.Thr9=) c.287C= (p.Thr96=) n.64C= | |
11 | g.2445385C>G | CA379117270 | KCNQ1 | c.26C>G (p.Thr9Arg) c.287C>G (p.Thr96Arg) n.64C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445385C>T | CA379117267 | KCNQ1 | c.26C>T (p.Thr9Met) c.287C>T (p.Thr96Met) n.64C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445386G>A | CA472416223 | KCNQ1 | c.27G>A (p.Thr9=) c.288G>A (p.Thr96=) n.65G>A | gnomAD v4 |
11 | g.2445386G>C | CA472416224 | KCNQ1 | c.27G>C (p.Thr9=) c.288G>C (p.Thr96=) n.65G>C | |
11 | g.2445386G= | CA1948160990 | KCNQ1 | c.27G= (p.Thr9=) c.288G= (p.Thr96=) n.65G= | |
11 | g.2445386G>T | CA034855 | KCNQ1 | c.27G>T (p.Thr9=) c.288G>T (p.Thr96=) n.65G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445387C>A | CA379117274 | KCNQ1 | c.28C>A (p.Arg10Ser) c.289C>A (p.Arg97Ser) n.66C>A | |
11 | g.2445387C>G | CA379117275 | KCNQ1 | c.28C>G (p.Arg10Gly) c.289C>G (p.Arg97Gly) n.66C>G | |
11 | g.2445387C>T | CA379117276 | KCNQ1 | c.28C>T (p.Arg10Cys) c.289C>T (p.Arg97Cys) n.66C>T | |
11 | g.2445388G>A | CA379117277 | KCNQ1 | c.29G>A (p.Arg10His) c.290G>A (p.Arg97His) n.67G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445388G>C | CA379117278 | KCNQ1 | c.29G>C (p.Arg10Pro) c.290G>C (p.Arg97Pro) n.67G>C | |
11 | g.2445388G= | CA1948160991 | KCNQ1 | c.29G= (p.Arg10=) c.290G= (p.Arg97=) n.67G= | |
11 | g.2445388G>T | CA379117280 | KCNQ1 | c.29G>T (p.Arg10Leu) c.290G>T (p.Arg97Leu) n.67G>T | gnomAD v4 |
11 | g.2445389C>A | CA472416225 | KCNQ1 | c.30C>A (p.Arg10=) c.291C>A (p.Arg97=) n.68C>A | gnomAD v4 |
11 | g.2445389C>G | CA472416226 | KCNQ1 | c.30C>G (p.Arg10=) c.291C>G (p.Arg97=) n.68C>G | |
11 | g.2445389C>T | CA472416227 | KCNQ1 | c.30C>T (p.Arg10=) c.291C>T (p.Arg97=) n.68C>T | dbSNP gnomAD v4 |
11 | g.2445390C>A | CA379117284 | KCNQ1 | c.31C>A (p.Arg11Ser) c.292C>A (p.Arg98Ser) n.69C>A | dbSNP |
11 | g.2445390C= | CA1948160992 | KCNQ1 | c.31C= (p.Arg11=) c.292C= (p.Arg98=) n.69C= | |
11 | g.2445390C>G | CA379117286 | KCNQ1 | c.31C>G (p.Arg11Gly) c.292C>G (p.Arg98Gly) n.69C>G | |
11 | g.2445390C>T | CA379117281 | KCNQ1 | c.31C>T (p.Arg11Cys) c.292C>T (p.Arg98Cys) n.69C>T | |
11 | g.2445391G>A | CA034910 | KCNQ1 | c.32G>A (p.Arg11His) c.293G>A (p.Arg98His) n.70G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445391G>C | CA379117291 | KCNQ1 | c.32G>C (p.Arg11Pro) c.293G>C (p.Arg98Pro) n.70G>C | ClinVar dbSNP |
11 | g.2445391G= | CA1948160993 | KCNQ1 | c.32G= (p.Arg11=) c.293G= (p.Arg98=) n.70G= | |
11 | g.2445391G>T | CA379117300 | KCNQ1 | c.32G>T (p.Arg11Leu) c.293G>T (p.Arg98Leu) n.70G>T | gnomAD v4 |
11 | g.2445392C>A | CA472416228 | KCNQ1 | c.33C>A (p.Arg11=) c.294C>A (p.Arg98=) n.71C>A | ClinVar gnomAD v4 |
11 | g.2445392C>G | CA472416230 | KCNQ1 | c.33C>G (p.Arg11=) c.294C>G (p.Arg98=) n.71C>G | |
11 | g.2445392C>T | CA472416229 | KCNQ1 | c.33C>T (p.Arg11=) c.294C>T (p.Arg98=) n.71C>T | ClinVar gnomAD v4 |
11 | g.2445394del | CA2612000229 | KCNQ1 | c.35del (p.Pro12ArgfsTer?) c.296del (p.Pro99ArgfsTer?) n.73del | gnomAD v4 |
11 | g.2445393C>A | CA379117302 | KCNQ1 | c.34C>A (p.Pro12Thr) c.295C>A (p.Pro99Thr) n.72C>A | |
11 | g.2445393C>G | CA379117305 | KCNQ1 | c.34C>G (p.Pro12Ala) c.295C>G (p.Pro99Ala) n.72C>G | |
11 | g.2445393C>T | CA379117307 | KCNQ1 | c.34C>T (p.Pro12Ser) c.295C>T (p.Pro99Ser) n.72C>T | |
11 | g.2445394C>A | CA379117309 | KCNQ1 | c.35C>A (p.Pro12Gln) c.296C>A (p.Pro99Gln) n.73C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445394C= | CA1948160994 | KCNQ1 | c.35C= (p.Pro12=) c.296C= (p.Pro99=) n.73C= | |
11 | g.2445394C>G | CA006767 | KCNQ1 | c.35C>G (p.Pro12Arg) c.296C>G (p.Pro99Arg) n.73C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445394C>T | CA379117313 | KCNQ1 | c.35C>T (p.Pro12Leu) c.296C>T (p.Pro99Leu) n.73C>T | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.2445395G>A | CA472416231 | KCNQ1 | c.36G>A (p.Pro12=) c.297G>A (p.Pro99=) n.74G>A | gnomAD v4 |
11 | g.2445395G>C | CA034943 | KCNQ1 | c.36G>C (p.Pro12=) c.297G>C (p.Pro99=) n.74G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445395G= | CA1948160995 | KCNQ1 | c.36G= (p.Pro12=) c.297G= (p.Pro99=) n.74G= | |
11 | g.2445395G>T | CA472416232 | KCNQ1 | c.36G>T (p.Pro12=) c.297G>T (p.Pro99=) n.74G>T | gnomAD v4 |
11 | g.2445396del | CA2695213181 | KCNQ1 | c.37del (p.Val13CysfsTer?) c.298del (p.Val100CysfsTer?) n.75del | |
11 | g.2445396G>A | CA379117332 | KCNQ1 | c.37G>A (p.Val13Met) c.298G>A (p.Val100Met) n.75G>A | |
11 | g.2445396G>C | CA379117327 | KCNQ1 | c.37G>C (p.Val13Leu) c.298G>C (p.Val100Leu) n.75G>C | dbSNP |
11 | g.2445396G= | CA1948160996 | KCNQ1 | c.37G= (p.Val13=) c.298G= (p.Val100=) n.75G= | |
11 | g.2445396G>T | CA216292862 | KCNQ1 | c.37G>T (p.Val13Leu) c.298G>T (p.Val100Leu) n.75G>T | dbSNP gnomAD v4 |
11 | g.2445397T>A | CA379117335 | KCNQ1 | c.38T>A (p.Val13Glu) c.299T>A (p.Val100Glu) n.76T>A | |
11 | g.2445397T>C | CA379117336 | KCNQ1 | c.38T>C (p.Val13Ala) c.299T>C (p.Val100Ala) n.76T>C | |
11 | g.2445397T>G | CA379117337 | KCNQ1 | c.38T>G (p.Val13Gly) c.299T>G (p.Val100Gly) n.76T>G | |
11 | g.2445398G>A | CA472416233 | KCNQ1 | c.39G>A (p.Val13=) c.300G>A (p.Val100=) n.77G>A | |
11 | g.2445398G>C | CA472416234 | KCNQ1 | c.39G>C (p.Val13=) c.300G>C (p.Val100=) n.77G>C | |
11 | g.2445398G>T | CA472416235 | KCNQ1 | c.39G>T (p.Val13=) c.300G>T (p.Val100=) n.77G>T | gnomAD v4 |
11 | g.2445399T>A | CA379117338 | KCNQ1 | c.40T>A (p.Leu14Met) c.301T>A (p.Leu101Met) n.78T>A | |
11 | g.2445399T>C | CA472416236 | KCNQ1 | c.40T>C (p.Leu14=) c.301T>C (p.Leu101=) n.78T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445399T>G | CA379117339 | KCNQ1 | c.40T>G (p.Leu14Val) c.301T>G (p.Leu101Val) n.78T>G | |
11 | g.2445399T= | CA1948160997 | KCNQ1 | c.40T= (p.Leu14=) c.301T= (p.Leu101=) n.78T= | |
11 | g.2445400T>A | CA379117340 | KCNQ1 | c.41T>A (p.Leu14Ter) c.302T>A (p.Leu101Ter) n.79T>A | ClinVar dbSNP |
11 | g.2445400T>C | CA379117343 | KCNQ1 | c.41T>C (p.Leu14Ser) c.302T>C (p.Leu101Ser) n.79T>C | |
11 | g.2445400T>G | CA379117346 | KCNQ1 | c.41T>G (p.Leu14Trp) c.302T>G (p.Leu101Trp) n.79T>G | |
11 | g.2445401G>A | CA472416237 | KCNQ1 | c.42G>A (p.Leu14=) c.303G>A (p.Leu101=) n.80G>A | gnomAD v4 |
11 | g.2445401G>C | CA379117352 | KCNQ1 | c.42G>C (p.Leu14Phe) c.303G>C (p.Leu101Phe) n.80G>C | |
11 | g.2445401G>T | CA379117354 | KCNQ1 | c.42G>T (p.Leu14Phe) c.303G>T (p.Leu101Phe) n.80G>T | gnomAD v4 |
11 | g.2445402G>A | CA379117356 | KCNQ1 | c.43G>A (p.Ala15Thr) c.304G>A (p.Ala102Thr) n.81G>A | |
11 | g.2445402G>C | CA379117359 | KCNQ1 | c.43G>C (p.Ala15Pro) c.304G>C (p.Ala102Pro) n.81G>C | |
11 | g.2445402G>T | CA379117365 | KCNQ1 | c.43G>T (p.Ala15Ser) c.304G>T (p.Ala102Ser) n.81G>T | gnomAD v4 |
11 | g.2445403C>A | CA379117369 | KCNQ1 | c.44C>A (p.Ala15Glu) c.305C>A (p.Ala102Glu) n.82C>A | |
11 | g.2445403C>G | CA379117372 | KCNQ1 | c.44C>G (p.Ala15Gly) c.305C>G (p.Ala102Gly) n.82C>G | |
11 | g.2445403C>T | CA379117367 | KCNQ1 | c.44C>T (p.Ala15Val) c.305C>T (p.Ala102Val) n.82C>T | gnomAD v4 |
11 | g.2445404G>A | CA216292867 | KCNQ1 | c.45G>A (p.Ala15=) c.306G>A (p.Ala102=) n.83G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445404G>C | CA472416239 | KCNQ1 | c.45G>C (p.Ala15=) c.306G>C (p.Ala102=) n.83G>C | gnomAD v4 |
11 | g.2445404G= | CA1948160998 | KCNQ1 | c.45G= (p.Ala15=) c.306G= (p.Ala102=) n.83G= | |
11 | g.2445404G>T | CA472416238 | KCNQ1 | c.45G>T (p.Ala15=) c.306G>T (p.Ala102=) n.83G>T | |
11 | g.2445405C>A | CA379117382 | KCNQ1 | c.46C>A (p.Arg16Ser) c.307C>A (p.Arg103Ser) n.84C>A | |
11 | g.2445405C>G | CA379117386 | KCNQ1 | c.46C>G (p.Arg16Gly) c.307C>G (p.Arg103Gly) n.84C>G | |
11 | g.2445405C>T | CA379117389 | KCNQ1 | c.46C>T (p.Arg16Cys) c.307C>T (p.Arg103Cys) n.84C>T | gnomAD v4 |
11 | g.2445406G>A | CA379117392 | KCNQ1 | c.47G>A (p.Arg16His) c.308G>A (p.Arg103His) n.85G>A | gnomAD v4 |
11 | g.2445406G>C | CA379117393 | KCNQ1 | c.47G>C (p.Arg16Pro) c.308G>C (p.Arg103Pro) n.85G>C | |
11 | g.2445406G= | CA1948160999 | KCNQ1 | c.47G= (p.Arg16=) c.308G= (p.Arg103=) n.85G= | |
11 | g.2445406G>T | CA379117395 | KCNQ1 | c.47G>T (p.Arg16Leu) c.308G>T (p.Arg103Leu) n.85G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445407C>A | CA216292871 | KCNQ1 | c.48C>A (p.Arg16=) c.309C>A (p.Arg103=) n.86C>A | dbSNP gnomAD v4 |
11 | g.2445407C= | CA1948161000 | KCNQ1 | c.48C= (p.Arg16=) c.309C= (p.Arg103=) n.86C= | |
11 | g.2445407C>G | CA472416240 | KCNQ1 | c.48C>G (p.Arg16=) c.309C>G (p.Arg103=) n.86C>G | |
11 | g.2445407C>T | CA472416241 | KCNQ1 | c.48C>T (p.Arg16=) c.309C>T (p.Arg103=) n.86C>T | |
11 | g.2445408A= | CA1948161001 | KCNQ1 | c.49A= (p.Thr17=) c.310A= (p.Thr104=) n.87A= | |
11 | g.2445408A>C | CA379117401 | KCNQ1 | c.49A>C (p.Thr17Pro) c.310A>C (p.Thr104Pro) n.87A>C | |
11 | g.2445408A>G | CA379117402 | KCNQ1 | c.49A>G (p.Thr17Ala) c.310A>G (p.Thr104Ala) n.87A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445408A>T | CA379117404 | KCNQ1 | c.49A>T (p.Thr17Ser) c.310A>T (p.Thr104Ser) n.87A>T | gnomAD v4 |
11 | g.2445408_2445427dup | CA2695213182 | KCNQ1 | c.49_68dup (p.Tyr24ProfsTer?) c.310_329dup (p.Tyr111ProfsTer?) n.87_106dup | |
11 | g.2445409C>A | CA379117408 | KCNQ1 | c.50C>A (p.Thr17Asn) c.311C>A (p.Thr104Asn) n.88C>A | |
11 | g.2445409C= | CA1948161002 | KCNQ1 | c.50C= (p.Thr17=) c.311C= (p.Thr104=) n.88C= | |
11 | g.2445409C>G | CA379117413 | KCNQ1 | c.50C>G (p.Thr17Ser) c.311C>G (p.Thr104Ser) n.88C>G | |
11 | g.2445409C>T | CA034980 | KCNQ1 | c.50C>T (p.Thr17Ile) c.311C>T (p.Thr104Ile) n.88C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445411del | CA2612000254 | KCNQ1 | c.52del (p.His18ThrfsTer?) c.313del (p.His105ThrfsTer?) n.90del | gnomAD v4 |
11 | g.2445410C>A | CA472416242 | KCNQ1 | c.51C>A (p.Thr17=) c.312C>A (p.Thr104=) n.89C>A | |
11 | g.2445410C= | CA1948161003 | KCNQ1 | c.51C= (p.Thr17=) c.312C= (p.Thr104=) n.89C= | |
11 | g.2445410C>G | CA472416243 | KCNQ1 | c.51C>G (p.Thr17=) c.312C>G (p.Thr104=) n.89C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445410C>T | CA035022 | KCNQ1 | c.51C>T (p.Thr17=) c.312C>T (p.Thr104=) n.89C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445411C>A | CA379117418 | KCNQ1 | c.52C>A (p.His18Asn) c.313C>A (p.His105Asn) n.90C>A | gnomAD v4 |
11 | g.2445411C>G | CA379117419 | KCNQ1 | c.52C>G (p.His18Asp) c.313C>G (p.His105Asp) n.90C>G | |
11 | g.2445411C>T | CA379117420 | KCNQ1 | c.52C>T (p.His18Tyr) c.313C>T (p.His105Tyr) n.90C>T | |
11 | g.2445412A= | CA1948161004 | KCNQ1 | c.53A= (p.His18=) c.314A= (p.His105=) n.91A= | |
11 | g.2445412A>C | CA379117421 | KCNQ1 | c.53A>C (p.His18Pro) c.314A>C (p.His105Pro) n.91A>C | gnomAD v4 |
11 | g.2445412A>G | CA379117422 | KCNQ1 | c.53A>G (p.His18Arg) c.314A>G (p.His105Arg) n.91A>G | |
11 | g.2445412A>T | CA006784 | KCNQ1 | c.53A>T (p.His18Leu) c.314A>T (p.His105Leu) n.91A>T | ClinVar dbSNP |
11 | g.2445413C>A | CA379117423 | KCNQ1 | c.54C>A (p.His18Gln) c.315C>A (p.His105Gln) n.92C>A | |
11 | g.2445413C>G | CA379117425 | KCNQ1 | c.54C>G (p.His18Gln) c.315C>G (p.His105Gln) n.92C>G | |
11 | g.2445413C>T | CA472416244 | KCNQ1 | c.54C>T (p.His18=) c.315C>T (p.His105=) n.92C>T | ClinVar gnomAD v4 |
11 | g.2445414G>A | CA379117427 | KCNQ1 | c.55G>A (p.Val19Ile) c.316G>A (p.Val106Ile) n.93G>A | |
11 | g.2445414G>C | CA379117428 | KCNQ1 | c.55G>C (p.Val19Leu) c.316G>C (p.Val106Leu) n.93G>C | gnomAD v4 |
11 | g.2445414G>T | CA379117430 | KCNQ1 | c.55G>T (p.Val19Phe) c.316G>T (p.Val106Phe) n.93G>T | gnomAD v4 |
11 | g.2445415T>A | CA379117431 | KCNQ1 | c.56T>A (p.Val19Asp) c.317T>A (p.Val106Asp) n.94T>A | ClinVar dbSNP gnomAD v4 |
11 | g.2445415T>C | CA379117433 | KCNQ1 | c.56T>C (p.Val19Ala) c.317T>C (p.Val106Ala) n.94T>C | |
11 | g.2445415T>G | CA379117436 | KCNQ1 | c.56T>G (p.Val19Gly) c.317T>G (p.Val106Gly) n.94T>G | |
11 | g.2445415T= | CA1948161005 | KCNQ1 | c.56T= (p.Val19=) c.317T= (p.Val106=) n.94T= | |
11 | g.2445416C>A | CA472416245 | KCNQ1 | c.57C>A (p.Val19=) c.318C>A (p.Val106=) n.95C>A | gnomAD v4 |
11 | g.2445416C>G | CA472416246 | KCNQ1 | c.57C>G (p.Val19=) c.318C>G (p.Val106=) n.95C>G | |
11 | g.2445416C>T | CA472416247 | KCNQ1 | c.57C>T (p.Val19=) c.318C>T (p.Val106=) n.95C>T | |
11 | g.2445417C>A | CA379117439 | KCNQ1 | c.58C>A (p.Gln20Lys) c.319C>A (p.Gln107Lys) n.96C>A | gnomAD v4 |
11 | g.2445417C= | CA1948161006 | KCNQ1 | c.58C= (p.Gln20=) c.319C= (p.Gln107=) n.96C= | |
11 | g.2445417C>G | CA379117444 | KCNQ1 | c.58C>G (p.Gln20Glu) c.319C>G (p.Gln107Glu) n.96C>G | |
11 | g.2445417C>T | CA379117442 | KCNQ1 | c.58C>T (p.Gln20Ter) c.319C>T (p.Gln107Ter) n.96C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445418A>C | CA379117447 | KCNQ1 | c.59A>C (p.Gln20Pro) c.320A>C (p.Gln107Pro) n.97A>C | |
11 | g.2445418A>G | CA379117450 | KCNQ1 | c.59A>G (p.Gln20Arg) c.320A>G (p.Gln107Arg) n.97A>G | gnomAD v4 |
11 | g.2445418A>T | CA379117451 | KCNQ1 | c.59A>T (p.Gln20Leu) c.320A>T (p.Gln107Leu) n.97A>T | |
11 | g.2445419G>A | CA472416248 | KCNQ1 | c.60G>A (p.Gln20=) c.321G>A (p.Gln107=) n.98G>A | |
11 | g.2445419G>C | CA379117454 | KCNQ1 | c.60G>C (p.Gln20His) c.321G>C (p.Gln107His) n.98G>C | |
11 | g.2445419G= | CA1948161007 | KCNQ1 | c.60G= (p.Gln20=) c.321G= (p.Gln107=) n.98G= | |
11 | g.2445419G>T | CA006790 | KCNQ1 | c.60G>T (p.Gln20His) c.321G>T (p.Gln107His) n.98G>T | ClinVar dbSNP COSMIC |
11 | g.2445420G>A | CA379117457 | KCNQ1 | c.61G>A (p.Gly21Ser) c.322G>A (p.Gly108Ser) n.99G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445420G>C | CA379117459 | KCNQ1 | c.61G>C (p.Gly21Arg) c.322G>C (p.Gly108Arg) n.99G>C | |
11 | g.2445420G= | CA1948161008 | KCNQ1 | c.61G= (p.Gly21=) c.322G= (p.Gly108=) n.99G= | |
11 | g.2445420G>T | CA379117461 | KCNQ1 | c.61G>T (p.Gly21Cys) c.322G>T (p.Gly108Cys) n.99G>T | gnomAD v4 |
11 | g.2445421G>A | CA379117462 | KCNQ1 | c.62G>A (p.Gly21Asp) c.323G>A (p.Gly108Asp) n.100G>A | gnomAD v4 |
11 | g.2445421G>C | CA379117463 | KCNQ1 | c.62G>C (p.Gly21Ala) c.323G>C (p.Gly108Ala) n.100G>C | |
11 | g.2445421G>T | CA379117472 | KCNQ1 | c.62G>T (p.Gly21Val) c.323G>T (p.Gly108Val) n.100G>T | gnomAD v4 |
11 | g.2445422C>A | CA472416249 | KCNQ1 | c.63C>A (p.Gly21=) c.324C>A (p.Gly108=) n.101C>A | gnomAD v4 |
11 | g.2445422C= | CA1948161009 | KCNQ1 | c.63C= (p.Gly21=) c.324C= (p.Gly108=) n.101C= | |
11 | g.2445422C>G | CA472416250 | KCNQ1 | c.63C>G (p.Gly21=) c.324C>G (p.Gly108=) n.101C>G | |
11 | g.2445422C>T | CA035036 | KCNQ1 | c.63C>T (p.Gly21=) c.324C>T (p.Gly108=) n.101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445423C>A | CA379117486 | KCNQ1 | c.64C>A (p.Arg22Ser) c.325C>A (p.Arg109Ser) n.102C>A | |
11 | g.2445423C= | CA1948161010 | KCNQ1 | c.64C= (p.Arg22=) c.325C= (p.Arg109=) n.102C= | |
11 | g.2445423C>G | CA379117475 | KCNQ1 | c.64C>G (p.Arg22Gly) c.325C>G (p.Arg109Gly) n.102C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445423C>T | CA379117483 | KCNQ1 | c.64C>T (p.Arg22Cys) c.325C>T (p.Arg109Cys) n.102C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445424G>A | CA379117493 | KCNQ1 | c.65G>A (p.Arg22His) c.326G>A (p.Arg109His) n.103G>A | gnomAD v4 |
11 | g.2445424G>C | CA379117500 | KCNQ1 | c.65G>C (p.Arg22Pro) c.326G>C (p.Arg109Pro) n.103G>C | |
11 | g.2445424G= | CA1948161011 | KCNQ1 | c.65G= (p.Arg22=) c.326G= (p.Arg109=) n.103G= | |
11 | g.2445424G>T | CA035051 | KCNQ1 | c.65G>T (p.Arg22Leu) c.326G>T (p.Arg109Leu) n.103G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445425C>A | CA472416251 | KCNQ1 | c.66C>A (p.Arg22=) c.327C>A (p.Arg109=) n.104C>A | |
11 | g.2445425C= | CA1948161012 | KCNQ1 | c.66C= (p.Arg22=) c.327C= (p.Arg109=) n.104C= | |
11 | g.2445425C>G | CA472416252 | KCNQ1 | c.66C>G (p.Arg22=) c.327C>G (p.Arg109=) n.104C>G | |
11 | g.2445425C>T | CA472416253 | KCNQ1 | c.66C>T (p.Arg22=) c.327C>T (p.Arg109=) n.104C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445426G>A | CA006800 | KCNQ1 | c.67G>A (p.Val23Ile) c.328G>A (p.Val110Ile) n.105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445426G>C | CA379117505 | KCNQ1 | c.67G>C (p.Val23Leu) c.328G>C (p.Val110Leu) n.105G>C | |
11 | g.2445426G= | CA1948161013 | KCNQ1 | c.67G= (p.Val23=) c.328G= (p.Val110=) n.105G= | |
11 | g.2445426G>T | CA379117506 | KCNQ1 | c.67G>T (p.Val23Phe) c.328G>T (p.Val110Phe) n.105G>T | gnomAD v4 |
11 | g.2445427T>A | CA379117507 | KCNQ1 | c.68T>A (p.Val23Asp) c.329T>A (p.Val110Asp) n.106T>A | |
11 | g.2445427T>C | CA379117508 | KCNQ1 | c.68T>C (p.Val23Ala) c.329T>C (p.Val110Ala) n.106T>C | dbSNP gnomAD v4 |
11 | g.2445427T>G | CA379117509 | KCNQ1 | c.68T>G (p.Val23Gly) c.329T>G (p.Val110Gly) n.106T>G | |
11 | g.2445427T= | CA1948161014 | KCNQ1 | c.68T= (p.Val23=) c.329T= (p.Val110=) n.106T= | |
11 | g.2445427_2445428delinsAG | CA1948161016 | KCNQ1 | c.68_69delinsAG (p.Val23Glu) c.329_330delinsAG (p.Val110Glu) n.106_107delinsAG | ClinVar dbSNP |
11 | g.2445427_2445428delinsTC | CA1948161015 | KCNQ1 | c.68_69delinsTC (p.Val23=) c.329_330delinsTC (p.Val110=) n.106_107delinsTC | |
11 | g.2445428C>A | CA472416254 | KCNQ1 | c.69C>A (p.Val23=) c.330C>A (p.Val110=) n.107C>A | gnomAD v4 |
11 | g.2445428C>G | CA472416256 | KCNQ1 | c.69C>G (p.Val23=) c.330C>G (p.Val110=) n.107C>G | COSMIC |
11 | g.2445428C>T | CA472416255 | KCNQ1 | c.69C>T (p.Val23=) c.330C>T (p.Val110=) n.107C>T | gnomAD v4 |
11 | g.2445429T>A | CA379117511 | KCNQ1 | c.70T>A (p.Tyr24Asn) c.331T>A (p.Tyr111Asn) n.108T>A | |
11 | g.2445429T>C | CA379117514 | KCNQ1 | c.70T>C (p.Tyr24His) c.331T>C (p.Tyr111His) n.108T>C | gnomAD v4 |
11 | g.2445429T>G | CA379117517 | KCNQ1 | c.70T>G (p.Tyr24Asp) c.331T>G (p.Tyr111Asp) n.108T>G | |
11 | g.2445430A= | CA1948161017 | KCNQ1 | c.71A= (p.Tyr24=) c.332A= (p.Tyr111=) n.109A= | |
11 | g.2445430A>C | CA379117524 | KCNQ1 | c.71A>C (p.Tyr24Ser) c.332A>C (p.Tyr111Ser) n.109A>C | ClinVar |
11 | g.2445430A>G | CA006810 | KCNQ1 | c.71A>G (p.Tyr24Cys) c.332A>G (p.Tyr111Cys) n.109A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445430A>T | CA379117520 | KCNQ1 | c.71A>T (p.Tyr24Phe) c.332A>T (p.Tyr111Phe) n.109A>T | |
11 | g.2445432_2445434dup | CA2695213183 | KCNQ1 | c.73_75dup (p.Asn25_Phe26insAsn) c.334_336dup (p.Asn112_Phe113insAsn) n.111_113dup | |
11 | g.2445431C>A | CA379117533 | KCNQ1 | c.72C>A (p.Tyr24Ter) c.333C>A (p.Tyr111Ter) n.110C>A | |
11 | g.2445431C>G | CA379117530 | KCNQ1 | c.72C>G (p.Tyr24Ter) c.333C>G (p.Tyr111Ter) n.110C>G | |
11 | g.2445431C>T | CA472416257 | KCNQ1 | c.72C>T (p.Tyr24=) c.333C>T (p.Tyr111=) n.110C>T | |
11 | g.2445432A>C | CA379117536 | KCNQ1 | c.73A>C (p.Asn25His) c.334A>C (p.Asn112His) n.111A>C | |
11 | g.2445432A>G | CA379117539 | KCNQ1 | c.73A>G (p.Asn25Asp) c.334A>G (p.Asn112Asp) n.111A>G | |
11 | g.2445432A>T | CA379117540 | KCNQ1 | c.73A>T (p.Asn25Tyr) c.334A>T (p.Asn112Tyr) n.111A>T | |
11 | g.2445433A>C | CA379117544 | KCNQ1 | c.74A>C (p.Asn25Thr) c.335A>C (p.Asn112Thr) n.112A>C | |
11 | g.2445433A>G | CA379117547 | KCNQ1 | c.74A>G (p.Asn25Ser) c.335A>G (p.Asn112Ser) n.112A>G | ClinVar dbSNP |
11 | g.2445433A>T | CA379117548 | KCNQ1 | c.74A>T (p.Asn25Ile) c.335A>T (p.Asn112Ile) n.112A>T | |
11 | g.2445434C>A | CA379117551 | KCNQ1 | c.75C>A (p.Asn25Lys) c.336C>A (p.Asn112Lys) n.113C>A | gnomAD v4 |
11 | g.2445434C>G | CA379117552 | KCNQ1 | c.75C>G (p.Asn25Lys) c.336C>G (p.Asn112Lys) n.113C>G | |
11 | g.2445434C>T | CA472416258 | KCNQ1 | c.75C>T (p.Asn25=) c.336C>T (p.Asn112=) n.113C>T | |
11 | g.2445435T>A | CA379117555 | KCNQ1 | c.76T>A (p.Phe26Ile) c.337T>A (p.Phe113Ile) n.114T>A | |
11 | g.2445435T>C | CA379117556 | KCNQ1 | c.76T>C (p.Phe26Leu) c.337T>C (p.Phe113Leu) n.114T>C | |
11 | g.2445435T>G | CA379117559 | KCNQ1 | c.76T>G (p.Phe26Val) c.337T>G (p.Phe113Val) n.114T>G | |
11 | g.2445436T>A | CA379117563 | KCNQ1 | c.77T>A (p.Phe26Tyr) c.338T>A (p.Phe113Tyr) n.115T>A | |
11 | g.2445436T>C | CA379117565 | KCNQ1 | c.77T>C (p.Phe26Ser) c.338T>C (p.Phe113Ser) n.115T>C | |
11 | g.2445436T>G | CA379117567 | KCNQ1 | c.77T>G (p.Phe26Cys) c.338T>G (p.Phe113Cys) n.115T>G | |
11 | g.2445437C>A | CA379117571 | KCNQ1 | c.78C>A (p.Phe26Leu) c.339C>A (p.Phe113Leu) n.116C>A | gnomAD v4 |
11 | g.2445437C= | CA1948161018 | KCNQ1 | c.78C= (p.Phe26=) c.339C= (p.Phe113=) n.116C= | |
11 | g.2445437C>G | CA379117573 | KCNQ1 | c.78C>G (p.Phe26Leu) c.339C>G (p.Phe113Leu) n.116C>G | |
11 | g.2445437C>T | CA472416259 | KCNQ1 | c.78C>T (p.Phe26=) c.339C>T (p.Phe113=) n.116C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2445438C>A | CA379117576 | KCNQ1 | c.79C>A (p.Leu27Ile) c.340C>A (p.Leu114Ile) n.117C>A | |
11 | g.2445438C= | CA1948161019 | KCNQ1 | c.79C= (p.Leu27=) c.340C= (p.Leu114=) n.117C= | |
11 | g.2445438C>G | CA379117579 | KCNQ1 | c.79C>G (p.Leu27Val) c.340C>G (p.Leu114Val) n.117C>G | |
11 | g.2445438C>T | CA379117582 | KCNQ1 | c.79C>T (p.Leu27Phe) c.340C>T (p.Leu114Phe) n.117C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445439T>A | CA379117584 | KCNQ1 | c.80T>A (p.Leu27His) c.341T>A (p.Leu114His) n.118T>A | |
11 | g.2445439T>C | CA006819 | KCNQ1 | c.80T>C (p.Leu27Pro) c.341T>C (p.Leu114Pro) n.118T>C | ClinVar dbSNP |
11 | g.2445439T>G | CA379117586 | KCNQ1 | c.80T>G (p.Leu27Arg) c.341T>G (p.Leu114Arg) n.118T>G | |
11 | g.2445439T= | CA1948161020 | KCNQ1 | c.80T= (p.Leu27=) c.341T= (p.Leu114=) n.118T= | |
11 | g.2445440C>A | CA472416260 | KCNQ1 | c.81C>A (p.Leu27=) c.342C>A (p.Leu114=) n.119C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2445440C= | CA1948161021 | KCNQ1 | c.81C= (p.Leu27=) c.342C= (p.Leu114=) n.119C= | |
11 | g.2445440C>G | CA472416262 | KCNQ1 | c.81C>G (p.Leu27=) c.342C>G (p.Leu114=) n.119C>G | |
11 | g.2445440C>T | CA472416261 | KCNQ1 | c.81C>T (p.Leu27=) c.342C>T (p.Leu114=) n.119C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445441G>A | CA006828 | KCNQ1 | c.82G>A (p.Glu28Lys) c.343G>A (p.Glu115Lys) n.120G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445441G>C | CA379117591 | KCNQ1 | c.82G>C (p.Glu28Gln) c.343G>C (p.Glu115Gln) n.120G>C | |
11 | g.2445441G= | CA1948161022 | KCNQ1 | c.82G= (p.Glu28=) c.343G= (p.Glu115=) n.120G= | |
11 | g.2445441G>T | CA379117594 | KCNQ1 | c.82G>T (p.Glu28Ter) c.343G>T (p.Glu115Ter) n.120G>T | gnomAD v4 |
11 | g.2445442A= | CA1948161023 | KCNQ1 | c.83A= (p.Glu28=) c.344A= (p.Glu115=) n.121A= | |
11 | g.2445442A>C | CA379117597 | KCNQ1 | c.83A>C (p.Glu28Ala) c.344A>C (p.Glu115Ala) n.121A>C | |
11 | g.2445442A>G | CA006838 | KCNQ1 | c.83A>G (p.Glu28Gly) c.344A>G (p.Glu115Gly) n.121A>G | ClinVar dbSNP |
11 | g.2445442A>T | CA379117601 | KCNQ1 | c.83A>T (p.Glu28Val) c.344A>T (p.Glu115Val) n.121A>T | |
11 | g.2445443G>A | CA035093 | KCNQ1 | c.84G>A (p.Glu28=) c.345G>A (p.Glu115=) n.122G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445443G>C | CA379117608 | KCNQ1 | c.84G>C (p.Glu28Asp) c.345G>C (p.Glu115Asp) n.122G>C | ClinVar dbSNP |
11 | g.2445443G= | CA1948161024 | KCNQ1 | c.84G= (p.Glu28=) c.345G= (p.Glu115=) n.122G= | |
11 | g.2445443G>T | CA379117605 | KCNQ1 | c.84G>T (p.Glu28Asp) c.345G>T (p.Glu115Asp) n.122G>T | gnomAD v4 |
11 | g.2445444C>A | CA379117614 | KCNQ1 | c.85C>A (p.Arg29Ser) c.346C>A (p.Arg116Ser) n.123C>A | |
11 | g.2445444C>G | CA379117617 | KCNQ1 | c.85C>G (p.Arg29Gly) c.346C>G (p.Arg116Gly) n.123C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445444C>T | CA379117619 | KCNQ1 | c.85C>T (p.Arg29Cys) c.346C>T (p.Arg116Cys) n.123C>T | gnomAD v4 |
11 | g.2445445G>A | CA006846 | KCNQ1 | c.86G>A (p.Arg29His) c.347G>A (p.Arg116His) n.124G>A | ClinVar dbSNP |
11 | g.2445445G>C | CA379117621 | KCNQ1 | c.86G>C (p.Arg29Pro) c.347G>C (p.Arg116Pro) n.124G>C | gnomAD v4 |
11 | g.2445445G= | CA1948161025 | KCNQ1 | c.86G= (p.Arg29=) c.347G= (p.Arg116=) n.124G= | |
11 | g.2445445G>T | CA379117624 | KCNQ1 | c.86G>T (p.Arg29Leu) c.347G>T (p.Arg116Leu) n.124G>T | gnomAD v4 |
11 | g.2445446T>A | CA472416263 | KCNQ1 | c.87T>A (p.Arg29=) c.348T>A (p.Arg116=) n.125T>A | |
11 | g.2445446T>C | CA472416264 | KCNQ1 | c.87T>C (p.Arg29=) c.348T>C (p.Arg116=) n.125T>C | ClinVar dbSNP gnomAD v4 |
11 | g.2445446T>G | CA472416265 | KCNQ1 | c.87T>G (p.Arg29=) c.348T>G (p.Arg116=) n.125T>G | |
11 | g.2445446T= | CA1948161026 | KCNQ1 | c.87T= (p.Arg29=) c.348T= (p.Arg116=) n.125T= | |
11 | g.2445447C>A | CA379117626 | KCNQ1 | c.88C>A (p.Pro30Thr) c.349C>A (p.Pro117Thr) n.126C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2445447C= | CA1948161027 | KCNQ1 | c.88C= (p.Pro30=) c.349C= (p.Pro117=) n.126C= | |
11 | g.2445447C>G | CA379117628 | KCNQ1 | c.88C>G (p.Pro30Ala) c.349C>G (p.Pro117Ala) n.126C>G | |
11 | g.2445447C>T | CA10586353 | KCNQ1 | c.88C>T (p.Pro30Ser) c.349C>T (p.Pro117Ser) n.126C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2445448C>A | CA379117633 | KCNQ1 | c.89C>A (p.Pro30His) c.350C>A (p.Pro117His) n.127C>A | gnomAD v4 |
11 | g.2445448C= | CA1948161028 | KCNQ1 | c.89C= (p.Pro30=) c.350C= (p.Pro117=) n.127C= | |
11 | g.2445448C>G | CA379117634 | KCNQ1 | c.89C>G (p.Pro30Arg) c.350C>G (p.Pro117Arg) n.127C>G | |
11 | g.2445448C>T | CA006854 | KCNQ1 | c.89C>T (p.Pro30Leu) c.350C>T (p.Pro117Leu) n.127C>T | ClinVar dbSNP |
11 | g.2445449C>A | CA472416266 | KCNQ1 | c.90C>A (p.Pro30=) c.351C>A (p.Pro117=) n.128C>A | |
11 | g.2445449C= | CA1948161029 | KCNQ1 | c.90C= (p.Pro30=) c.351C= (p.Pro117=) n.128C= | |
11 | g.2445449C>G | CA472416267 | KCNQ1 | c.90C>G (p.Pro30=) c.351C>G (p.Pro117=) n.128C>G | |
11 | g.2445449C>T | CA035135 | KCNQ1 | c.90C>T (p.Pro30=) c.351C>T (p.Pro117=) n.128C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445450A>C | CA379117637 | KCNQ1 | c.91A>C (p.Thr31Pro) c.352A>C (p.Thr118Pro) n.129A>C | ClinVar |
11 | g.2445450A>G | CA16622146 | KCNQ1 | c.91A>G (p.Thr31Ala) c.352A>G (p.Thr118Ala) n.129A>G | |
11 | g.2445450A>T | CA379117640 | KCNQ1 | c.91A>T (p.Thr31Ser) c.352A>T (p.Thr118Ser) n.129A>T | gnomAD v4 |
11 | g.2445451C>A | CA379117644 | KCNQ1 | c.92C>A (p.Thr31Asn) c.353C>A (p.Thr118Asn) n.130C>A | dbSNP |
11 | g.2445451C>G | CA379117646 | KCNQ1 | c.92C>G (p.Thr31Ser) c.353C>G (p.Thr118Ser) n.130C>G | |
11 | g.2445451C>T | CA379117649 | KCNQ1 | c.92C>T (p.Thr31Ile) c.353C>T (p.Thr118Ile) n.130C>T | |
11 | g.2445452C>A | CA472416268 | KCNQ1 | c.93C>A (p.Thr31=) c.354C>A (p.Thr118=) n.131C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445452C= | CA1948161030 | KCNQ1 | c.93C= (p.Thr31=) c.354C= (p.Thr118=) n.131C= | |
11 | g.2445452C>G | CA472416269 | KCNQ1 | c.93C>G (p.Thr31=) c.354C>G (p.Thr118=) n.131C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445452C>T | CA035147 | KCNQ1 | c.93C>T (p.Thr31=) c.354C>T (p.Thr118=) n.131C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445453G>A | CA379117655 | KCNQ1 | c.94G>A (p.Gly32Ser) c.355G>A (p.Gly119Ser) c.1G>A (p.Gly1Ser) n.132G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2445453G>C | CA379117657 | KCNQ1 | c.94G>C (p.Gly32Arg) c.355G>C (p.Gly119Arg) c.1G>C (p.Gly1Arg) n.132G>C | ClinVar dbSNP gnomAD v4 |
11 | g.2445453G= | CA1948161031 | KCNQ1 | c.94G= (p.Gly32=) c.355G= (p.Gly119=) c.1G= (p.Gly1=) n.132G= | |
11 | g.2445453G>T | CA379117658 | KCNQ1 | c.94G>T (p.Gly32Cys) c.355G>T (p.Gly119Cys) c.1G>T (p.Gly1Cys) n.132G>T | gnomAD v4 |
11 | g.2445453_2445454insC | CA2580617509 | KCNQ1 | c.94_95insC (p.Gly32AlafsTer?) c.355_356insC (p.Gly119AlafsTer?) c.1_2insC (p.Gly1AlafsTer?) n.132_133insC | ClinVar |
11 | g.2445454G>A | CA006864 | KCNQ1 | c.95G>A (p.Gly32Asp) c.356G>A (p.Gly119Asp) c.2G>A (p.Gly1Asp) n.133G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2445454G>C | CA379117663 | KCNQ1 | c.95G>C (p.Gly32Ala) c.356G>C (p.Gly119Ala) c.2G>C (p.Gly1Ala) n.133G>C | |
11 | g.2445454G= | CA1948161032 | KCNQ1 | c.95G= (p.Gly32=) c.356G= (p.Gly119=) c.2G= (p.Gly1=) n.133G= | |
11 | g.2445454G>T | CA379117666 | KCNQ1 | c.95G>T (p.Gly32Val) c.356G>T (p.Gly119Val) c.2G>T (p.Gly1Val) n.133G>T | ClinVar dbSNP gnomAD v4 |
11 | g.2445455C>A | CA216292955 | KCNQ1 | c.96C>A (p.Gly32=) c.357C>A (p.Gly119=) c.3C>A (p.Gly1=) n.134C>A | dbSNP |
11 | g.2445455C= | CA1948161033 | KCNQ1 | c.96C= (p.Gly32=) c.357C= (p.Gly119=) c.3C= (p.Gly1=) n.134C= | |
11 | g.2445455C>G | CA472416270 | KCNQ1 | c.96C>G (p.Gly32=) c.357C>G (p.Gly119=) c.3C>G (p.Gly1=) n.134C>G | |
11 | g.2445455C>T | CA472416271 | KCNQ1 | c.96C>T (p.Gly32=) c.357C>T (p.Gly119=) c.3C>T (p.Gly1=) n.134C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2445455dup | CA216292956 | KCNQ1 | c.96dup (p.Trp33LeufsTer?) c.357dup (p.Trp120LeufsTer?) c.3dup (p.Trp2LeufsTer?) n.134dup | dbSNP |
11 | g.2445455_2445456insA | CA216292957 | KCNQ1 | c.96_97insA (p.Trp33MetfsTer?) c.357_358insA (p.Trp120MetfsTer?) c.3_4insA (p.Trp2MetfsTer?) n.134_135insA | dbSNP |
11 | g.2445456T>A | CA379117676 | KCNQ1 | c.97T>A (p.Trp33Arg) c.358T>A (p.Trp120Arg) c.4T>A (p.Trp2Arg) n.135T>A | |
11 | g.2445456T>C | CA379117678 | KCNQ1 | c.97T>C (p.Trp33Arg) c.358T>C (p.Trp120Arg) c.4T>C (p.Trp2Arg) n.135T>C | |
11 | g.2445456T>G | CA379117673 | KCNQ1 | c.97T>G (p.Trp33Gly) c.358T>G (p.Trp120Gly) c.4T>G (p.Trp2Gly) n.135T>G | |
11 | g.2445456_2445457delinsTG | CA1948161034 | KCNQ1 | c.97_98delinsTG (p.Trp33=) c.358_359delinsTG (p.Trp120=) c.4_5delinsTG (p.Trp2=) n.135_136delinsTG | |
11 | g.2445457G>A | CA379117688 | KCNQ1 | c.98G>A (p.Trp33Ter) c.359G>A (p.Trp120Ter) c.5G>A (p.Trp2Ter) n.136G>A | ClinVar dbSNP |
11 | g.2445457G>C | CA379117690 | KCNQ1 | c.98G>C (p.Trp33Ser) c.359G>C (p.Trp120Ser) c.5G>C (p.Trp2Ser) n.136G>C | |
11 | g.2445457G>T | CA379117693 | KCNQ1 | c.98G>T (p.Trp33Leu) c.359G>T (p.Trp120Leu) c.5G>T (p.Trp2Leu) n.136G>T | gnomAD v4 |
11 | g.2445458dup | CA216292959 | KCNQ1 | c.99dup (p.Lys34GlufsTer?) c.360dup (p.Lys121GlufsTer?) c.6dup (p.Lys3GlufsTer?) n.137dup | dbSNP |
11 | g.2445458del | CA1948161035 | KCNQ1 | c.99del (p.Trp33Ter) c.360del (p.Trp120Ter) c.6del (p.Trp2Ter) n.137del | dbSNP |
11 | g.2445458G>A | CA379117696 | KCNQ1 | c.99G>A (p.Trp33Ter) c.360G>A (p.Trp120Ter) c.6G>A (p.Trp2Ter) n.137G>A | |
11 | g.2445458G>C | CA379117699 | KCNQ1 | c.99G>C (p.Trp33Cys) c.360G>C (p.Trp120Cys) c.6G>C (p.Trp2Cys) n.137G>C | |
11 | g.2445458G= | CA1948161036 | KCNQ1 | c.99G= (p.Trp33=) c.360G= (p.Trp120=) c.6G= (p.Trp2=) n.137G= | |
11 | g.2445458G>T | CA379117701 | KCNQ1 | c.99G>T (p.Trp33Cys) c.360G>T (p.Trp120Cys) c.6G>T (p.Trp2Cys) n.137G>T | gnomAD v4 |
11 | g.2445459_2445468del | CA2573146066 | KCNQ1 | c.100_109del (p.Lys34PhefsTer?) c.361_370del (p.Lys121PhefsTer?) c.7_16del (p.Lys3PhefsTer?) n.138_147del | ClinVar dbSNP |
11 | g.2445459A= | CA1948161037 | KCNQ1 | c.100A= (p.Lys34=) c.361A= (p.Lys121=) c.7A= (p.Lys3=) n.138A= | |
11 | g.2445459A>C | CA379117703 | KCNQ1 | c.100A>C (p.Lys34Gln) c.361A>C (p.Lys121Gln) c.7A>C (p.Lys3Gln) n.138A>C | |
11 | g.2445459A>G | CA379117704 | KCNQ1 | c.100A>G (p.Lys34Glu) c.361A>G (p.Lys121Glu) c.7A>G (p.Lys3Glu) n.138A>G | dbSNP gnomAD v4 |
11 | g.2445459A>T | CA379117707 | KCNQ1 | c.100A>T (p.Lys34Ter) c.361A>T (p.Lys121Ter) c.7A>T (p.Lys3Ter) n.138A>T | |
11 | g.2445461dup | CA006875 | KCNQ1 | c.102dup (p.Cys35MetfsTer?) c.363dup (p.Cys122MetfsTer?) c.9dup (p.Cys4MetfsTer?) n.140dup | ClinVar dbSNP |
11 | g.2445460A>C | CA379117716 | KCNQ1 | c.101A>C (p.Lys34Thr) c.362A>C (p.Lys121Thr) c.8A>C (p.Lys3Thr) n.139A>C | |
11 | g.2445460A>G | CA379117713 | KCNQ1 | c.101A>G (p.Lys34Arg) c.362A>G (p.Lys121Arg) c.8A>G (p.Lys3Arg) n.139A>G | |
11 | g.2445460A>T | CA379117711 | KCNQ1 | c.101A>T (p.Lys34Ile) c.362A>T (p.Lys121Ile) c.8A>T (p.Lys3Ile) n.139A>T | |
11 | g.2445461A= | CA1948161038 | KCNQ1 | c.102A= (p.Lys34=) c.363A= (p.Lys121=) c.9A= (p.Lys3=) n.140A= | |
11 | g.2445461A>C | CA379117720 | KCNQ1 | c.102A>C (p.Lys34Asn) c.363A>C (p.Lys121Asn) c.9A>C (p.Lys3Asn) n.140A>C | |
11 | g.2445461A>G | CA472416272 | KCNQ1 | c.102A>G (p.Lys34=) c.363A>G (p.Lys121=) c.9A>G (p.Lys3=) n.140A>G | ClinVar dbSNP |
11 | g.2445461A>T | CA379117721 | KCNQ1 | c.102A>T (p.Lys34Asn) c.363A>T (p.Lys121Asn) c.9A>T (p.Lys3Asn) n.140A>T | |
11 | g.2445462T>A | CA379117728 | KCNQ1 | c.103T>A (p.Cys35Ser) c.364T>A (p.Cys122Ser) c.10T>A (p.Cys4Ser) n.141T>A | |
11 | g.2445462T>C | CA379117730 | KCNQ1 | c.103T>C (p.Cys35Arg) c.364T>C (p.Cys122Arg) c.10T>C (p.Cys4Arg) n.141T>C | |
11 | g.2445462T>G | CA379117733 | KCNQ1 | c.103T>G (p.Cys35Gly) c.364T>G (p.Cys122Gly) c.10T>G (p.Cys4Gly) n.141T>G | gnomAD v4 |
11 | g.2445462dup | CA277170 | KCNQ1 | c.103dup (p.Cys35LeufsTer?) c.364dup (p.Cys122LeufsTer?) c.10dup (p.Cys4LeufsTer?) n.141dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445463G>A | CA006889 | KCNQ1 | c.104G>A (p.Cys35Tyr) c.365G>A (p.Cys122Tyr) c.11G>A (p.Cys4Tyr) n.142G>A | ClinVar dbSNP |
11 | g.2445463G>C | CA379117737 | KCNQ1 | c.104G>C (p.Cys35Ser) c.365G>C (p.Cys122Ser) c.11G>C (p.Cys4Ser) n.142G>C | |
11 | g.2445463G= | CA1948161039 | KCNQ1 | c.104G= (p.Cys35=) c.365G= (p.Cys122=) c.11G= (p.Cys4=) n.142G= | |
11 | g.2445463G>T | CA379117740 | KCNQ1 | c.104G>T (p.Cys35Phe) c.365G>T (p.Cys122Phe) c.11G>T (p.Cys4Phe) n.142G>T | |
11 | g.2445464C>A | CA379117742 | KCNQ1 | c.105C>A (p.Cys35Ter) c.366C>A (p.Cys122Ter) c.12C>A (p.Cys4Ter) n.143C>A | |
11 | g.2445464C= | CA1948161040 | KCNQ1 | c.105C= (p.Cys35=) c.366C= (p.Cys122=) c.12C= (p.Cys4=) n.143C= | |
11 | g.2445464C>G | CA379117748 | KCNQ1 | c.105C>G (p.Cys35Trp) c.366C>G (p.Cys122Trp) c.12C>G (p.Cys4Trp) n.143C>G | |
11 | g.2445464C>T | CA472416273 | KCNQ1 | c.105C>T (p.Cys35=) c.366C>T (p.Cys122=) c.12C>T (p.Cys4=) n.143C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445465T>A | CA379117753 | KCNQ1 | c.106T>A (p.Phe36Ile) c.367T>A (p.Phe123Ile) c.13T>A (p.Phe5Ile) n.144T>A | |
11 | g.2445465T>C | CA379117755 | KCNQ1 | c.106T>C (p.Phe36Leu) c.367T>C (p.Phe123Leu) c.13T>C (p.Phe5Leu) n.144T>C | |
11 | g.2445465T>G | CA379117752 | KCNQ1 | c.106T>G (p.Phe36Val) c.367T>G (p.Phe123Val) c.13T>G (p.Phe5Val) n.144T>G | |
11 | g.2445466T>A | CA379117757 | KCNQ1 | c.107T>A (p.Phe36Tyr) c.368T>A (p.Phe123Tyr) c.14T>A (p.Phe5Tyr) n.145T>A | |
11 | g.2445466T>C | CA379117765 | KCNQ1 | c.107T>C (p.Phe36Ser) c.368T>C (p.Phe123Ser) c.14T>C (p.Phe5Ser) n.145T>C | |
11 | g.2445466T>G | CA379117767 | KCNQ1 | c.107T>G (p.Phe36Cys) c.368T>G (p.Phe123Cys) c.14T>G (p.Phe5Cys) n.145T>G | |
11 | g.2445467C>A | CA379117769 | KCNQ1 | c.108C>A (p.Phe36Leu) c.369C>A (p.Phe123Leu) c.15C>A (p.Phe5Leu) n.146C>A | |
11 | g.2445467C>G | CA379117771 | KCNQ1 | c.108C>G (p.Phe36Leu) c.369C>G (p.Phe123Leu) c.15C>G (p.Phe5Leu) n.146C>G | |
11 | g.2445467C>T | CA472416274 | KCNQ1 | c.108C>T (p.Phe36=) c.369C>T (p.Phe123=) c.15C>T (p.Phe5=) n.146C>T | |
11 | g.2445468G>A | CA379117784 | KCNQ1 | c.109G>A (p.Val37Ile) c.370G>A (p.Val124Ile) c.16G>A (p.Val6Ile) n.147G>A | dbSNP |
11 | g.2445468G>C | CA379117778 | KCNQ1 | c.109G>C (p.Val37Leu) c.370G>C (p.Val124Leu) c.16G>C (p.Val6Leu) n.147G>C | |
11 | g.2445468G= | CA1948161041 | KCNQ1 | c.109G= (p.Val37=) c.370G= (p.Val124=) c.16G= (p.Val6=) n.147G= | |
11 | g.2445468G>T | CA379117774 | KCNQ1 | c.109G>T (p.Val37Phe) c.370G>T (p.Val124Phe) c.16G>T (p.Val6Phe) n.147G>T | ClinVar gnomAD v4 |
11 | g.2445469T>A | CA379117787 | KCNQ1 | c.110T>A (p.Val37Asp) c.371T>A (p.Val124Asp) c.17T>A (p.Val6Asp) n.148T>A | |
11 | g.2445469T>C | CA379117790 | KCNQ1 | c.110T>C (p.Val37Ala) c.371T>C (p.Val124Ala) c.17T>C (p.Val6Ala) n.148T>C | dbSNP |
11 | g.2445469T>G | CA379117791 | KCNQ1 | c.110T>G (p.Val37Gly) c.371T>G (p.Val124Gly) c.17T>G (p.Val6Gly) n.148T>G | |
11 | g.2445469T= | CA1948161042 | KCNQ1 | c.110T= (p.Val37=) c.371T= (p.Val124=) c.17T= (p.Val6=) n.148T= | |
11 | g.2445471del | CA2612000320 | KCNQ1 | c.112del (p.Tyr38ThrfsTer?) c.373del (p.Tyr125ThrfsTer?) c.19del (p.Tyr7ThrfsTer?) n.150del | gnomAD v4 |
11 | g.2445470T>A | CA472416275 | KCNQ1 | c.111T>A (p.Val37=) c.372T>A (p.Val124=) c.18T>A (p.Val6=) n.149T>A | |
11 | g.2445470T>C | CA035234 | KCNQ1 | c.111T>C (p.Val37=) c.372T>C (p.Val124=) c.18T>C (p.Val6=) n.149T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445470T>G | CA472416276 | KCNQ1 | c.111T>G (p.Val37=) c.372T>G (p.Val124=) c.18T>G (p.Val6=) n.149T>G | |
11 | g.2445470T= | CA1948161043 | KCNQ1 | c.111T= (p.Val37=) c.372T= (p.Val124=) c.18T= (p.Val6=) n.149T= | |
11 | g.2445471T>A | CA379117796 | KCNQ1 | c.112T>A (p.Tyr38Asn) c.373T>A (p.Tyr125Asn) c.19T>A (p.Tyr7Asn) n.150T>A | ClinVar dbSNP |
11 | g.2445471T>C | CA379117798 | KCNQ1 | c.112T>C (p.Tyr38His) c.373T>C (p.Tyr125His) c.19T>C (p.Tyr7His) n.150T>C | |
11 | g.2445471T>G | CA006898 | KCNQ1 | c.112T>G (p.Tyr38Asp) c.373T>G (p.Tyr125Asp) c.19T>G (p.Tyr7Asp) n.150T>G | ClinVar dbSNP |
11 | g.2445471T= | CA1948161044 | KCNQ1 | c.112T= (p.Tyr38=) c.373T= (p.Tyr125=) c.19T= (p.Tyr7=) n.150T= | |
11 | g.2445472A= | CA1948161045 | KCNQ1 | c.113A= (p.Tyr38=) c.374A= (p.Tyr125=) c.20A= (p.Tyr7=) n.151A= | |
11 | g.2445472A>C | CA379117800 | KCNQ1 | c.113A>C (p.Tyr38Ser) c.374A>C (p.Tyr125Ser) c.20A>C (p.Tyr7Ser) n.151A>C | |
11 | g.2445472A>G | CA379117805 | KCNQ1 | c.113A>G (p.Tyr38Cys) c.374A>G (p.Tyr125Cys) c.20A>G (p.Tyr7Cys) n.151A>G | ClinVar dbSNP |
11 | g.2445472A>T | CA379117803 | KCNQ1 | c.113A>T (p.Tyr38Phe) c.374A>T (p.Tyr125Phe) c.20A>T (p.Tyr7Phe) n.151A>T |