Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.65026876G>ACA130602MTFMTc.374C>T (p.Ser125Leu)
n.335C>T
n.293C>T
c.359C>T (p.Ser120Leu)
n.56C>T
c.119C>T (p.Ser40Leu)
c.527C>T (p.Ser176Leu)
n.542C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026876G>CCA392858826MTFMTc.374C>G (p.Ser125Trp)
n.335C>G
n.293C>G
c.359C>G (p.Ser120Trp)
n.56C>G
c.119C>G (p.Ser40Trp)
c.527C>G (p.Ser176Trp)
n.542C>G
15g.65026876G=CA2183421531MTFMTc.374C= (p.Ser125=)
n.335C=
n.293C=
c.359C= (p.Ser120=)
n.56C=
c.119C= (p.Ser40=)
c.527C= (p.Ser176=)
n.542C=
15g.65026876G>TCA392858830MTFMTc.374C>A (p.Ser125Ter)
n.335C>A
n.293C>A
c.359C>A (p.Ser120Ter)
n.56C>A
c.119C>A (p.Ser40Ter)
c.527C>A (p.Ser176Ter)
n.542C>A
 COSMIC COSMIC
15g.65026877A>CCA392858834MTFMTc.373T>G (p.Ser125Ala)
n.334T>G
n.292T>G
c.358T>G (p.Ser120Ala)
n.55T>G
c.118T>G (p.Ser40Ala)
c.526T>G (p.Ser176Ala)
n.541T>G
15g.65026877A>GCA392858837MTFMTc.373T>C (p.Ser125Pro)
n.334T>C
n.292T>C
c.358T>C (p.Ser120Pro)
n.55T>C
c.118T>C (p.Ser40Pro)
c.526T>C (p.Ser176Pro)
n.541T>C
15g.65026877A>TCA392858840MTFMTc.373T>A (p.Ser125Thr)
n.334T>A
n.292T>A
c.358T>A (p.Ser120Thr)
n.55T>A
c.118T>A (p.Ser40Thr)
c.526T>A (p.Ser176Thr)
n.541T>A
15g.65026879_65026891delCA645570527MTFMTc.361_373del (p.Gly121ArgfsTer6)
n.322_334del
n.280_292del
c.346_358del (p.Gly116ArgfsTer6)
n.43_55del
c.106_118del (p.Gly36ArgfsTer6)
c.514_526del (p.Gly172ArgfsTer6)
n.529_541del
 COSMIC COSMIC
15g.65026878A>CCA490826795MTFMTc.372T>G (p.Ala124=)
n.333T>G
n.291T>G
c.357T>G (p.Ala119=)
n.54T>G
c.117T>G (p.Ala39=)
c.525T>G (p.Ala175=)
n.540T>G
15g.65026878A>GCA490826796MTFMTc.372T>C (p.Ala124=)
n.333T>C
n.291T>C
c.357T>C (p.Ala119=)
n.54T>C
c.117T>C (p.Ala39=)
c.525T>C (p.Ala175=)
n.540T>C
15g.65026878A>TCA490826797MTFMTc.372T>A (p.Ala124=)
n.333T>A
n.291T>A
c.357T>A (p.Ala119=)
n.54T>A
c.117T>A (p.Ala39=)
c.525T>A (p.Ala175=)
n.540T>A
15g.65026879G>ACA392858846MTFMTc.371C>T (p.Ala124Val)
n.332C>T
n.290C>T
c.356C>T (p.Ala119Val)
n.53C>T
c.116C>T (p.Ala39Val)
c.524C>T (p.Ala175Val)
n.539C>T
15g.65026879G>CCA392858847MTFMTc.371C>G (p.Ala124Gly)
n.332C>G
n.290C>G
c.356C>G (p.Ala119Gly)
n.53C>G
c.116C>G (p.Ala39Gly)
c.524C>G (p.Ala175Gly)
n.539C>G
15g.65026879G>TCA392858848MTFMTc.371C>A (p.Ala124Asp)
n.332C>A
n.290C>A
c.356C>A (p.Ala119Asp)
n.53C>A
c.116C>A (p.Ala39Asp)
c.524C>A (p.Ala175Asp)
n.539C>A
15g.65026880C>ACA392858852MTFMTc.370G>T (p.Ala124Ser)
n.331G>T
n.289G>T
c.355G>T (p.Ala119Ser)
n.52G>T
c.115G>T (p.Ala39Ser)
c.523G>T (p.Ala175Ser)
n.538G>T
15g.65026880C=CA2183421532MTFMTc.370G= (p.Ala124=)
n.331G=
n.289G=
c.355G= (p.Ala119=)
n.52G=
c.115G= (p.Ala39=)
c.523G= (p.Ala175=)
n.538G=
15g.65026880C>GCA392858858MTFMTc.370G>C (p.Ala124Pro)
n.331G>C
n.289G>C
c.355G>C (p.Ala119Pro)
n.52G>C
c.115G>C (p.Ala39Pro)
c.523G>C (p.Ala175Pro)
n.538G>C
15g.65026880C>TCA7613382MTFMTc.370G>A (p.Ala124Thr)
n.331G>A
n.289G>A
c.355G>A (p.Ala119Thr)
n.52G>A
c.115G>A (p.Ala39Thr)
c.523G>A (p.Ala175Thr)
n.538G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026881C>ACA490826798MTFMTc.369G>T (p.Val123=)
n.330G>T
n.288G>T
c.354G>T (p.Val118=)
n.51G>T
c.114G>T (p.Val38=)
c.522G>T (p.Val174=)
n.537G>T
15g.65026881C>GCA490826799MTFMTc.369G>C (p.Val123=)
n.330G>C
n.288G>C
c.354G>C (p.Val118=)
n.51G>C
c.114G>C (p.Val38=)
c.522G>C (p.Val174=)
n.537G>C
15g.65026881C>TCA490826800MTFMTc.369G>A (p.Val123=)
n.330G>A
n.288G>A
c.354G>A (p.Val118=)
n.51G>A
c.114G>A (p.Val38=)
c.522G>A (p.Val174=)
n.537G>A
15g.65026882A=CA2183421533MTFMTc.368T= (p.Val123=)
n.329T=
n.287T=
c.353T= (p.Val118=)
n.50T=
c.113T= (p.Val38=)
c.521T= (p.Val174=)
n.536T=
15g.65026882A>CCA392858861MTFMTc.368T>G (p.Val123Gly)
n.329T>G
n.287T>G
c.353T>G (p.Val118Gly)
n.50T>G
c.113T>G (p.Val38Gly)
c.521T>G (p.Val174Gly)
n.536T>G
15g.65026882A>GCA7613383MTFMTc.368T>C (p.Val123Ala)
n.329T>C
n.287T>C
c.353T>C (p.Val118Ala)
n.50T>C
c.113T>C (p.Val38Ala)
c.521T>C (p.Val174Ala)
n.536T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026882A>TCA392858866MTFMTc.368T>A (p.Val123Glu)
n.329T>A
n.287T>A
c.353T>A (p.Val118Glu)
n.50T>A
c.113T>A (p.Val38Glu)
c.521T>A (p.Val174Glu)
n.536T>A
15g.65026883C>ACA392858875MTFMTc.367G>T (p.Val123Leu)
n.328G>T
n.286G>T
c.352G>T (p.Val118Leu)
n.49G>T
c.112G>T (p.Val38Leu)
c.520G>T (p.Val174Leu)
n.535G>T
15g.65026883C>GCA392858877MTFMTc.367G>C (p.Val123Leu)
n.328G>C
n.286G>C
c.352G>C (p.Val118Leu)
n.49G>C
c.112G>C (p.Val38Leu)
c.520G>C (p.Val174Leu)
n.535G>C
15g.65026883C>TCA392858881MTFMTc.367G>A (p.Val123Met)
n.328G>A
n.286G>A
c.352G>A (p.Val118Met)
n.49G>A
c.112G>A (p.Val38Met)
c.520G>A (p.Val174Met)
n.535G>A
15g.65026884T>ACA490826802MTFMTc.366A>T (p.Val122=)
n.327A>T
n.285A>T
c.351A>T (p.Val117=)
n.48A>T
c.111A>T (p.Val37=)
c.519A>T (p.Val173=)
n.534A>T
15g.65026884T>CCA490826803MTFMTc.366A>G (p.Val122=)
n.327A>G
n.285A>G
c.351A>G (p.Val117=)
n.48A>G
c.111A>G (p.Val37=)
c.519A>G (p.Val173=)
n.534A>G
 gnomAD v4
15g.65026884T>GCA490826801MTFMTc.366A>C (p.Val122=)
n.327A>C
n.285A>C
c.351A>C (p.Val117=)
n.48A>C
c.111A>C (p.Val37=)
c.519A>C (p.Val173=)
n.534A>C
15g.65026885A=CA2183421534MTFMTc.365T= (p.Val122=)
n.326T=
n.284T=
c.350T= (p.Val117=)
n.47T=
c.110T= (p.Val37=)
c.518T= (p.Val173=)
n.533T=
15g.65026885A>CCA392858886MTFMTc.365T>G (p.Val122Gly)
n.326T>G
n.284T>G
c.350T>G (p.Val117Gly)
n.47T>G
c.110T>G (p.Val37Gly)
c.518T>G (p.Val173Gly)
n.533T>G
15g.65026885A>GCA392858888MTFMTc.365T>C (p.Val122Ala)
n.326T>C
n.284T>C
c.350T>C (p.Val117Ala)
n.47T>C
c.110T>C (p.Val37Ala)
c.518T>C (p.Val173Ala)
n.533T>C
 dbSNP gnomAD v3 gnomAD v4
15g.65026885A>TCA392858898MTFMTc.365T>A (p.Val122Glu)
n.326T>A
n.284T>A
c.350T>A (p.Val117Glu)
n.47T>A
c.110T>A (p.Val37Glu)
c.518T>A (p.Val173Glu)
n.533T>A
15g.65026886C>ACA271502869MTFMTc.364G>T (p.Val122Leu)
n.325G>T
n.283G>T
c.349G>T (p.Val117Leu)
n.46G>T
c.109G>T (p.Val37Leu)
c.517G>T (p.Val173Leu)
n.532G>T
 dbSNP gnomAD v4
15g.65026886C=CA2183421535MTFMTc.364G= (p.Val122=)
n.325G=
n.283G=
c.349G= (p.Val117=)
n.46G=
c.109G= (p.Val37=)
c.517G= (p.Val173=)
n.532G=
15g.65026886C>GCA392858905MTFMTc.364G>C (p.Val122Leu)
n.325G>C
n.283G>C
c.349G>C (p.Val117Leu)
n.46G>C
c.109G>C (p.Val37Leu)
c.517G>C (p.Val173Leu)
n.532G>C
15g.65026886C>TCA392858910MTFMTc.364G>A (p.Val122Ile)
n.325G>A
n.283G>A
c.349G>A (p.Val117Ile)
n.46G>A
c.109G>A (p.Val37Ile)
c.517G>A (p.Val173Ile)
n.532G>A
15g.65026887T>ACA490826804MTFMTc.363A>T (p.Gly121=)
n.324A>T
n.282A>T
c.348A>T (p.Gly116=)
n.45A>T
c.108A>T (p.Gly36=)
c.516A>T (p.Gly172=)
n.531A>T
15g.65026887T>CCA7613384MTFMTc.363A>G (p.Gly121=)
n.324A>G
n.282A>G
c.348A>G (p.Gly116=)
n.45A>G
c.108A>G (p.Gly36=)
c.516A>G (p.Gly172=)
n.531A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026887T>GCA490826805MTFMTc.363A>C (p.Gly121=)
n.324A>C
n.282A>C
c.348A>C (p.Gly116=)
n.45A>C
c.108A>C (p.Gly36=)
c.516A>C (p.Gly172=)
n.531A>C
15g.65026887T=CA2183421536MTFMTc.363A= (p.Gly121=)
n.324A=
n.282A=
c.348A= (p.Gly116=)
n.45A=
c.108A= (p.Gly36=)
c.516A= (p.Gly172=)
n.531A=
15g.65026888C>ACA392858916MTFMTc.362G>T (p.Gly121Val)
n.323G>T
n.281G>T
c.347G>T (p.Gly116Val)
n.44G>T
c.107G>T (p.Gly36Val)
c.515G>T (p.Gly172Val)
n.530G>T
 COSMIC COSMIC
15g.65026888C=CA2183421537MTFMTc.362G= (p.Gly121=)
n.323G=
n.281G=
c.347G= (p.Gly116=)
n.44G=
c.107G= (p.Gly36=)
c.515G= (p.Gly172=)
n.530G=
15g.65026888C>GCA392858918MTFMTc.362G>C (p.Gly121Ala)
n.323G>C
n.281G>C
c.347G>C (p.Gly116Ala)
n.44G>C
c.107G>C (p.Gly36Ala)
c.515G>C (p.Gly172Ala)
n.530G>C
 gnomAD v4
15g.65026888C>TCA392858920MTFMTc.362G>A (p.Gly121Glu)
n.323G>A
n.281G>A
c.347G>A (p.Gly116Glu)
n.44G>A
c.107G>A (p.Gly36Glu)
c.515G>A (p.Gly172Glu)
n.530G>A
 dbSNP
15g.65026889C>ACA392858930MTFMTc.361G>T (p.Gly121Ter)
n.322G>T
n.280G>T
c.346G>T (p.Gly116Ter)
n.43G>T
c.106G>T (p.Gly36Ter)
c.514G>T (p.Gly172Ter)
n.529G>T
15g.65026889C=CA2183421538MTFMTc.361G= (p.Gly121=)
n.322G=
n.280G=
c.346G= (p.Gly116=)
n.43G=
c.106G= (p.Gly36=)
c.514G= (p.Gly172=)
n.529G=
15g.65026889C>GCA392858924MTFMTc.361G>C (p.Gly121Arg)
n.322G>C
n.280G>C
c.346G>C (p.Gly116Arg)
n.43G>C
c.106G>C (p.Gly36Arg)
c.514G>C (p.Gly172Arg)
n.529G>C
15g.65026889C>TCA392858927MTFMTc.361G>A (p.Gly121Arg)
n.322G>A
n.280G>A
c.346G>A (p.Gly116Arg)
n.43G>A
c.106G>A (p.Gly36Arg)
c.514G>A (p.Gly172Arg)
n.529G>A
15g.65026890A>CCA490826806MTFMTc.360T>G (p.Val120=)
n.321T>G
n.279T>G
c.345T>G (p.Val115=)
n.42T>G
c.105T>G (p.Val35=)
c.513T>G (p.Val171=)
n.528T>G
15g.65026890A>GCA490826807MTFMTc.360T>C (p.Val120=)
n.321T>C
n.279T>C
c.345T>C (p.Val115=)
n.42T>C
c.105T>C (p.Val35=)
c.513T>C (p.Val171=)
n.528T>C
15g.65026890A>TCA490826808MTFMTc.360T>A (p.Val120=)
n.321T>A
n.279T>A
c.345T>A (p.Val115=)
n.42T>A
c.105T>A (p.Val35=)
c.513T>A (p.Val171=)
n.528T>A
15g.65026891dupCA7613385MTFMTc.360dup (p.Gly121TrpfsTer12)
n.321dup
n.279dup
c.345dup (p.Gly116TrpfsTer12)
n.42dup
c.105dup (p.Gly36TrpfsTer12)
c.513dup (p.Gly172TrpfsTer12)
n.528dup
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026891A>CCA392858938MTFMTc.359T>G (p.Val120Gly)
n.320T>G
n.278T>G
c.344T>G (p.Val115Gly)
n.41T>G
c.104T>G (p.Val35Gly)
c.512T>G (p.Val171Gly)
n.527T>G
15g.65026891A>GCA392858944MTFMTc.359T>C (p.Val120Ala)
n.320T>C
n.278T>C
c.344T>C (p.Val115Ala)
n.41T>C
c.104T>C (p.Val35Ala)
c.512T>C (p.Val171Ala)
n.527T>C
15g.65026891A>TCA392858947MTFMTc.359T>A (p.Val120Asp)
n.320T>A
n.278T>A
c.344T>A (p.Val115Asp)
n.41T>A
c.104T>A (p.Val35Asp)
c.512T>A (p.Val171Asp)
n.527T>A
15g.65026892C>ACA392858948MTFMTc.358G>T (p.Val120Phe)
n.319G>T
n.277G>T
c.343G>T (p.Val115Phe)
n.40G>T
c.103G>T (p.Val35Phe)
c.511G>T (p.Val171Phe)
n.526G>T
 gnomAD v4
15g.65026892C=CA2183421539MTFMTc.358G= (p.Val120=)
n.319G=
n.277G=
c.343G= (p.Val115=)
n.40G=
c.103G= (p.Val35=)
c.511G= (p.Val171=)
n.526G=
15g.65026892C>GCA392858949MTFMTc.358G>C (p.Val120Leu)
n.319G>C
n.277G>C
c.343G>C (p.Val115Leu)
n.40G>C
c.103G>C (p.Val35Leu)
c.511G>C (p.Val171Leu)
n.526G>C
15g.65026892C>TCA7613386MTFMTc.358G>A (p.Val120Ile)
n.319G>A
n.277G>A
c.343G>A (p.Val115Ile)
n.40G>A
c.103G>A (p.Val35Ile)
c.511G>A (p.Val171Ile)
n.526G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026893A=CA2183421540MTFMTc.357T= (p.Asp119=)
n.318T=
n.276T=
c.342T= (p.Asp114=)
n.39T=
c.102T= (p.Asp34=)
c.510T= (p.Asp170=)
n.525T=
15g.65026893A>CCA392858953MTFMTc.357T>G (p.Asp119Glu)
n.318T>G
n.276T>G
c.342T>G (p.Asp114Glu)
n.39T>G
c.102T>G (p.Asp34Glu)
c.510T>G (p.Asp170Glu)
n.525T>G
15g.65026893A>GCA490826809MTFMTc.357T>C (p.Asp119=)
n.318T>C
n.276T>C
c.342T>C (p.Asp114=)
n.39T>C
c.102T>C (p.Asp34=)
c.510T>C (p.Asp170=)
n.525T>C
 ClinVar dbSNP
15g.65026893A>TCA392858954MTFMTc.357T>A (p.Asp119Glu)
n.318T>A
n.276T>A
c.342T>A (p.Asp114Glu)
n.39T>A
c.102T>A (p.Asp34Glu)
c.510T>A (p.Asp170Glu)
n.525T>A
15g.65026894T>ACA392858957MTFMTc.356A>T (p.Asp119Val)
n.317A>T
n.275A>T
c.341A>T (p.Asp114Val)
n.38A>T
c.101A>T (p.Asp34Val)
c.509A>T (p.Asp170Val)
n.524A>T
15g.65026894T>CCA392858959MTFMTc.356A>G (p.Asp119Gly)
n.317A>G
n.275A>G
c.341A>G (p.Asp114Gly)
n.38A>G
c.101A>G (p.Asp34Gly)
c.509A>G (p.Asp170Gly)
n.524A>G
 gnomAD v4
15g.65026894T>GCA392858966MTFMTc.356A>C (p.Asp119Ala)
n.317A>C
n.275A>C
c.341A>C (p.Asp114Ala)
n.38A>C
c.101A>C (p.Asp34Ala)
c.509A>C (p.Asp170Ala)
n.524A>C
15g.65026895C>ACA392858969MTFMTc.355G>T (p.Asp119Tyr)
n.316G>T
n.274G>T
c.340G>T (p.Asp114Tyr)
n.37G>T
c.100G>T (p.Asp34Tyr)
c.508G>T (p.Asp170Tyr)
n.523G>T
15g.65026895C>GCA392858973MTFMTc.355G>C (p.Asp119His)
n.316G>C
n.274G>C
c.340G>C (p.Asp114His)
n.37G>C
c.100G>C (p.Asp34His)
c.508G>C (p.Asp170His)
n.523G>C
15g.65026895C>TCA392858971MTFMTc.355G>A (p.Asp119Asn)
n.316G>A
n.274G>A
c.340G>A (p.Asp114Asn)
n.37G>A
c.100G>A (p.Asp34Asn)
c.508G>A (p.Asp170Asn)
n.523G>A
15g.65026896A>CCA392858975MTFMTc.354T>G (p.Tyr118Ter)
n.315T>G
n.273T>G
c.339T>G (p.Tyr113Ter)
n.36T>G
c.99T>G (p.Tyr33Ter)
c.507T>G (p.Tyr169Ter)
n.522T>G
15g.65026896A>GCA490826810MTFMTc.354T>C (p.Tyr118=)
n.315T>C
n.273T>C
c.339T>C (p.Tyr113=)
n.36T>C
c.99T>C (p.Tyr33=)
c.507T>C (p.Tyr169=)
n.522T>C
15g.65026896A>TCA392858980MTFMTc.354T>A (p.Tyr118Ter)
n.315T>A
n.273T>A
c.339T>A (p.Tyr113Ter)
n.36T>A
c.99T>A (p.Tyr33Ter)
c.507T>A (p.Tyr169Ter)
n.522T>A
15g.65026897T>ACA392858986MTFMTc.353A>T (p.Tyr118Phe)
n.314A>T
n.272A>T
c.338A>T (p.Tyr113Phe)
n.35A>T
c.98A>T (p.Tyr33Phe)
c.506A>T (p.Tyr169Phe)
n.521A>T
15g.65026897T>CCA7613387MTFMTc.353A>G (p.Tyr118Cys)
n.314A>G
n.272A>G
c.338A>G (p.Tyr113Cys)
n.35A>G
c.98A>G (p.Tyr33Cys)
c.506A>G (p.Tyr169Cys)
n.521A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026897T>GCA392858994MTFMTc.353A>C (p.Tyr118Ser)
n.314A>C
n.272A>C
c.338A>C (p.Tyr113Ser)
n.35A>C
c.98A>C (p.Tyr33Ser)
c.506A>C (p.Tyr169Ser)
n.521A>C
 gnomAD v4
15g.65026897T=CA2183421541MTFMTc.353A= (p.Tyr118=)
n.314A=
n.272A=
c.338A= (p.Tyr113=)
n.35A=
c.98A= (p.Tyr33=)
c.506A= (p.Tyr169=)
n.521A=
15g.65026898A>CCA392859000MTFMTc.352T>G (p.Tyr118Asp)
n.313T>G
n.271T>G
c.337T>G (p.Tyr113Asp)
n.34T>G
c.97T>G (p.Tyr33Asp)
c.505T>G (p.Tyr169Asp)
n.520T>G
15g.65026898A>GCA392859003MTFMTc.352T>C (p.Tyr118His)
n.313T>C
n.271T>C
c.337T>C (p.Tyr113His)
n.34T>C
c.97T>C (p.Tyr33His)
c.505T>C (p.Tyr169His)
n.520T>C
15g.65026898A>TCA392859007MTFMTc.352T>A (p.Tyr118Asn)
n.313T>A
n.271T>A
c.337T>A (p.Tyr113Asn)
n.34T>A
c.97T>A (p.Tyr33Asn)
c.505T>A (p.Tyr169Asn)
n.520T>A
15g.65026899T>ACA392859011MTFMTc.351A>T (p.Glu117Asp)
n.312A>T
n.270A>T
c.336A>T (p.Glu112Asp)
n.33A>T
c.96A>T (p.Glu32Asp)
c.504A>T (p.Glu168Asp)
n.519A>T
 dbSNP
15g.65026899T>CCA490826811MTFMTc.351A>G (p.Glu117=)
n.312A>G
n.270A>G
c.336A>G (p.Glu112=)
n.33A>G
c.96A>G (p.Glu32=)
c.504A>G (p.Glu168=)
n.519A>G
 gnomAD v4
15g.65026899T>GCA392859015MTFMTc.351A>C (p.Glu117Asp)
n.312A>C
n.270A>C
c.336A>C (p.Glu112Asp)
n.33A>C
c.96A>C (p.Glu32Asp)
c.504A>C (p.Glu168Asp)
n.519A>C
15g.65026900T>ACA392859021MTFMTc.350A>T (p.Glu117Val)
n.311A>T
n.269A>T
c.335A>T (p.Glu112Val)
n.32A>T
c.95A>T (p.Glu32Val)
c.503A>T (p.Glu168Val)
n.518A>T
15g.65026900T>CCA392859020MTFMTc.350A>G (p.Glu117Gly)
n.311A>G
n.269A>G
c.335A>G (p.Glu112Gly)
n.32A>G
c.95A>G (p.Glu32Gly)
c.503A>G (p.Glu168Gly)
n.518A>G
15g.65026900T>GCA392859019MTFMTc.350A>C (p.Glu117Ala)
n.311A>C
n.269A>C
c.335A>C (p.Glu112Ala)
n.32A>C
c.95A>C (p.Glu32Ala)
c.503A>C (p.Glu168Ala)
n.518A>C
15g.65026901C>ACA392859026MTFMTc.349G>T (p.Glu117Ter)
n.310G>T
n.268G>T
c.334G>T (p.Glu112Ter)
n.31G>T
c.94G>T (p.Glu32Ter)
c.502G>T (p.Glu168Ter)
n.517G>T
15g.65026901C>GCA392859029MTFMTc.349G>C (p.Glu117Gln)
n.310G>C
n.268G>C
c.334G>C (p.Glu112Gln)
n.31G>C
c.94G>C (p.Glu32Gln)
c.502G>C (p.Glu168Gln)
n.517G>C
15g.65026901C>TCA392859032MTFMTc.349G>A (p.Glu117Lys)
n.310G>A
n.268G>A
c.334G>A (p.Glu112Lys)
n.31G>A
c.94G>A (p.Glu32Lys)
c.502G>A (p.Glu168Lys)
n.517G>A
15g.65026902T>ACA490826812MTFMTc.348A>T (p.Gly116=)
n.309A>T
n.267A>T
c.333A>T (p.Gly111=)
n.30A>T
c.93A>T (p.Gly31=)
c.501A>T (p.Gly167=)
n.516A>T
15g.65026902T>CCA490826813MTFMTc.348A>G (p.Gly116=)
n.309A>G
n.267A>G
c.333A>G (p.Gly111=)
n.30A>G
c.93A>G (p.Gly31=)
c.501A>G (p.Gly167=)
n.516A>G
15g.65026902T>GCA490826814MTFMTc.348A>C (p.Gly116=)
n.309A>C
n.267A>C
c.333A>C (p.Gly111=)
n.30A>C
c.93A>C (p.Gly31=)
c.501A>C (p.Gly167=)
n.516A>C
15g.65026903C>ACA392859038MTFMTc.347G>T (p.Gly116Val)
n.308G>T
n.266G>T
c.332G>T (p.Gly111Val)
n.29G>T
c.92G>T (p.Gly31Val)
c.500G>T (p.Gly167Val)
n.515G>T
15g.65026903C>GCA392859041MTFMTc.347G>C (p.Gly116Ala)
n.308G>C
n.266G>C
c.332G>C (p.Gly111Ala)
n.29G>C
c.92G>C (p.Gly31Ala)
c.500G>C (p.Gly167Ala)
n.515G>C
 gnomAD v4
15g.65026903C>TCA392859043MTFMTc.347G>A (p.Gly116Glu)
n.308G>A
n.266G>A
c.332G>A (p.Gly111Glu)
n.29G>A
c.92G>A (p.Gly31Glu)
c.500G>A (p.Gly167Glu)
n.515G>A
 gnomAD v4
15g.65026904C>ACA392859044MTFMTc.346G>T (p.Gly116Ter)
n.307G>T
n.265G>T
c.331G>T (p.Gly111Ter)
n.28G>T
c.91G>T (p.Gly31Ter)
c.499G>T (p.Gly167Ter)
n.514G>T
15g.65026904C>GCA392859045MTFMTc.346G>C (p.Gly116Arg)
n.307G>C
n.265G>C
c.331G>C (p.Gly111Arg)
n.28G>C
c.91G>C (p.Gly31Arg)
c.499G>C (p.Gly167Arg)
n.514G>C
15g.65026904C>TCA392859046MTFMTc.346G>A (p.Gly116Arg)
n.307G>A
n.265G>A
c.331G>A (p.Gly111Arg)
n.28G>A
c.91G>A (p.Gly31Arg)
c.499G>A (p.Gly167Arg)
n.514G>A
15g.65026905A>CCA490826815MTFMTc.345T>G (p.Ser115=)
n.306T>G
n.264T>G
c.330T>G (p.Ser110=)
n.27T>G
c.90T>G (p.Ser30=)
c.498T>G (p.Ser166=)
n.513T>G
15g.65026905A>GCA490826817MTFMTc.345T>C (p.Ser115=)
n.306T>C
n.264T>C
c.330T>C (p.Ser110=)
n.27T>C
c.90T>C (p.Ser30=)
c.498T>C (p.Ser166=)
n.513T>C
15g.65026905A>TCA490826816MTFMTc.345T>A (p.Ser115=)
n.306T>A
n.264T>A
c.330T>A (p.Ser110=)
n.27T>A
c.90T>A (p.Ser30=)
c.498T>A (p.Ser166=)
n.513T>A
15g.65026906G>ACA392859047MTFMTc.344C>T (p.Ser115Phe)
n.305C>T
n.263C>T
c.329C>T (p.Ser110Phe)
n.26C>T
c.89C>T (p.Ser30Phe)
c.497C>T (p.Ser166Phe)
n.512C>T
 COSMIC COSMIC
15g.65026906G>CCA392859049MTFMTc.344C>G (p.Ser115Cys)
n.305C>G
n.263C>G
c.329C>G (p.Ser110Cys)
n.26C>G
c.89C>G (p.Ser30Cys)
c.497C>G (p.Ser166Cys)
n.512C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65026906G=CA2183421542MTFMTc.344C= (p.Ser115=)
n.305C=
n.263C=
c.329C= (p.Ser110=)
n.26C=
c.89C= (p.Ser30=)
c.497C= (p.Ser166=)
n.512C=
15g.65026906G>TCA392859052MTFMTc.344C>A (p.Ser115Tyr)
n.305C>A
n.263C>A
c.329C>A (p.Ser110Tyr)
n.26C>A
c.89C>A (p.Ser30Tyr)
c.497C>A (p.Ser166Tyr)
n.512C>A
 dbSNP gnomAD v3 gnomAD v4
15g.65026907A=CA2183421543MTFMTc.343T= (p.Ser115=)
n.304T=
n.262T=
c.328T= (p.Ser110=)
n.25T=
c.88T= (p.Ser30=)
c.496T= (p.Ser166=)
n.511T=
15g.65026907A>CCA392859072MTFMTc.343T>G (p.Ser115Ala)
n.304T>G
n.262T>G
c.328T>G (p.Ser110Ala)
n.25T>G
c.88T>G (p.Ser30Ala)
c.496T>G (p.Ser166Ala)
n.511T>G
15g.65026907A>GCA7613388MTFMTc.343T>C (p.Ser115Pro)
n.304T>C
n.262T>C
c.328T>C (p.Ser110Pro)
n.25T>C
c.88T>C (p.Ser30Pro)
c.496T>C (p.Ser166Pro)
n.511T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026907A>TCA392859070MTFMTc.343T>A (p.Ser115Thr)
n.304T>A
n.262T>A
c.328T>A (p.Ser110Thr)
n.25T>A
c.88T>A (p.Ser30Thr)
c.496T>A (p.Ser166Thr)
n.511T>A
 dbSNP gnomAD v3 gnomAD v4
15g.65026908T>ACA490826818MTFMTc.342A>T (p.Gly114=)
n.303A>T
n.261A>T
c.327A>T (p.Gly109=)
n.24A>T
c.87A>T (p.Gly29=)
c.495A>T (p.Gly165=)
n.510A>T
15g.65026908T>CCA490826819MTFMTc.342A>G (p.Gly114=)
n.303A>G
n.261A>G
c.327A>G (p.Gly109=)
n.24A>G
c.87A>G (p.Gly29=)
c.495A>G (p.Gly165=)
n.510A>G
 dbSNP
15g.65026908T>GCA490826820MTFMTc.342A>C (p.Gly114=)
n.303A>C
n.261A>C
c.327A>C (p.Gly109=)
n.24A>C
c.87A>C (p.Gly29=)
c.495A>C (p.Gly165=)
n.510A>C
15g.65026908T=CA2183421544MTFMTc.342A= (p.Gly114=)
n.303A=
n.261A=
c.327A= (p.Gly109=)
n.24A=
c.87A= (p.Gly29=)
c.495A= (p.Gly165=)
n.510A=
15g.65026909C>ACA392859074MTFMTc.341G>T (p.Gly114Val)
n.302G>T
n.260G>T
c.326G>T (p.Gly109Val)
n.23G>T
c.86G>T (p.Gly29Val)
c.494G>T (p.Gly165Val)
n.509G>T
 gnomAD v4
15g.65026909C>GCA392859076MTFMTc.341G>C (p.Gly114Ala)
n.302G>C
n.260G>C
c.326G>C (p.Gly109Ala)
n.23G>C
c.86G>C (p.Gly29Ala)
c.494G>C (p.Gly165Ala)
n.509G>C
15g.65026909C>TCA392859081MTFMTc.341G>A (p.Gly114Glu)
n.302G>A
n.260G>A
c.326G>A (p.Gly109Glu)
n.23G>A
c.86G>A (p.Gly29Glu)
c.494G>A (p.Gly165Glu)
n.509G>A
15g.65026910C>ACA392859084MTFMTc.340G>T (p.Gly114Ter)
n.301G>T
n.259G>T
c.325G>T (p.Gly109Ter)
n.22G>T
c.85G>T (p.Gly29Ter)
c.493G>T (p.Gly165Ter)
n.508G>T
 dbSNP gnomAD v4
15g.65026910C=CA2183421545MTFMTc.340G= (p.Gly114=)
n.301G=
n.259G=
c.325G= (p.Gly109=)
n.22G=
c.85G= (p.Gly29=)
c.493G= (p.Gly165=)
n.508G=
15g.65026910C>GCA392859088MTFMTc.340G>C (p.Gly114Arg)
n.301G>C
n.259G>C
c.325G>C (p.Gly109Arg)
n.22G>C
c.85G>C (p.Gly29Arg)
c.493G>C (p.Gly165Arg)
n.508G>C
15g.65026910C>TCA392859093MTFMTc.340G>A (p.Gly114Arg)
n.301G>A
n.259G>A
c.325G>A (p.Gly109Arg)
n.22G>A
c.85G>A (p.Gly29Arg)
c.493G>A (p.Gly165Arg)
n.508G>A
15g.65026911C>ACA490826823MTFMTc.339G>T (p.Val113=)
n.300G>T
n.258G>T
c.324G>T (p.Val108=)
n.21G>T
c.84G>T (p.Val28=)
c.492G>T (p.Val164=)
n.507G>T
15g.65026911C=CA2183421546MTFMTc.339G= (p.Val113=)
n.300G=
n.258G=
c.324G= (p.Val108=)
n.21G=
c.84G= (p.Val28=)
c.492G= (p.Val164=)
n.507G=
15g.65026911C>GCA490826821MTFMTc.339G>C (p.Val113=)
n.300G>C
n.258G>C
c.324G>C (p.Val108=)
n.21G>C
c.84G>C (p.Val28=)
c.492G>C (p.Val164=)
n.507G>C
15g.65026911C>TCA490826822MTFMTc.339G>A (p.Val113=)
n.300G>A
n.258G>A
c.324G>A (p.Val108=)
n.21G>A
c.84G>A (p.Val28=)
c.492G>A (p.Val164=)
n.507G>A
 dbSNP gnomAD v2 gnomAD v4
15g.65026912A>CCA392859105MTFMTc.338T>G (p.Val113Gly)
n.299T>G
n.257T>G
c.323T>G (p.Val108Gly)
n.20T>G
c.83T>G (p.Val28Gly)
c.491T>G (p.Val164Gly)
n.506T>G
15g.65026912A>GCA392859099MTFMTc.338T>C (p.Val113Ala)
n.299T>C
n.257T>C
c.323T>C (p.Val108Ala)
n.20T>C
c.83T>C (p.Val28Ala)
c.491T>C (p.Val164Ala)
n.506T>C
15g.65026912A>TCA392859102MTFMTc.338T>A (p.Val113Glu)
n.299T>A
n.257T>A
c.323T>A (p.Val108Glu)
n.20T>A
c.83T>A (p.Val28Glu)
c.491T>A (p.Val164Glu)
n.506T>A
15g.65026913C>ACA392859118MTFMTc.337G>T (p.Val113Leu)
n.298G>T
n.256G>T
c.322G>T (p.Val108Leu)
n.19G>T
c.82G>T (p.Val28Leu)
c.490G>T (p.Val164Leu)
n.505G>T
 gnomAD v4
15g.65026913C>GCA392859120MTFMTc.337G>C (p.Val113Leu)
n.298G>C
n.256G>C
c.322G>C (p.Val108Leu)
n.19G>C
c.82G>C (p.Val28Leu)
c.490G>C (p.Val164Leu)
n.505G>C
15g.65026913C>TCA392859124MTFMTc.337G>A (p.Val113Met)
n.298G>A
n.256G>A
c.322G>A (p.Val108Met)
n.19G>A
c.82G>A (p.Val28Met)
c.490G>A (p.Val164Met)
n.505G>A
15g.65026914A>CCA392859128MTFMTc.336T>G (p.Asp112Glu)
n.297T>G
n.255T>G
c.321T>G (p.Asp107Glu)
n.18T>G
c.81T>G (p.Asp27Glu)
c.489T>G (p.Asp163Glu)
n.504T>G
15g.65026914A>GCA490826824MTFMTc.336T>C (p.Asp112=)
n.297T>C
n.255T>C
c.321T>C (p.Asp107=)
n.18T>C
c.81T>C (p.Asp27=)
c.489T>C (p.Asp163=)
n.504T>C
 dbSNP gnomAD v4
15g.65026914A>TCA392859132MTFMTc.336T>A (p.Asp112Glu)
n.297T>A
n.255T>A
c.321T>A (p.Asp107Glu)
n.18T>A
c.81T>A (p.Asp27Glu)
c.489T>A (p.Asp163Glu)
n.504T>A
15g.65026915T>ACA392859151MTFMTc.335A>T (p.Asp112Val)
n.296A>T
n.254A>T
c.320A>T (p.Asp107Val)
n.17A>T
c.80A>T (p.Asp27Val)
c.488A>T (p.Asp163Val)
n.503A>T
15g.65026915T>CCA392859138MTFMTc.335A>G (p.Asp112Gly)
n.296A>G
n.254A>G
c.320A>G (p.Asp107Gly)
n.17A>G
c.80A>G (p.Asp27Gly)
c.488A>G (p.Asp163Gly)
n.503A>G
 dbSNP
15g.65026915T>GCA392859141MTFMTc.335A>C (p.Asp112Ala)
n.296A>C
n.254A>C
c.320A>C (p.Asp107Ala)
n.17A>C
c.80A>C (p.Asp27Ala)
c.488A>C (p.Asp163Ala)
n.503A>C
15g.65026915T=CA2183421547MTFMTc.335A= (p.Asp112=)
n.296A=
n.254A=
c.320A= (p.Asp107=)
n.17A=
c.80A= (p.Asp27=)
c.488A= (p.Asp163=)
n.503A=
15g.65026916C>ACA392859159MTFMTc.334G>T (p.Asp112Tyr)
n.295G>T
n.253G>T
c.319G>T (p.Asp107Tyr)
n.16G>T
c.79G>T (p.Asp27Tyr)
c.487G>T (p.Asp163Tyr)
n.502G>T
15g.65026916C>GCA392859179MTFMTc.334G>C (p.Asp112His)
n.295G>C
n.253G>C
c.319G>C (p.Asp107His)
n.16G>C
c.79G>C (p.Asp27His)
c.487G>C (p.Asp163His)
n.502G>C
15g.65026916C>TCA392859183MTFMTc.334G>A (p.Asp112Asn)
n.295G>A
n.253G>A
c.319G>A (p.Asp107Asn)
n.16G>A
c.79G>A (p.Asp27Asn)
c.487G>A (p.Asp163Asn)
n.502G>A
 gnomAD v4 COSMIC COSMIC
15g.65026917C>ACA490826826MTFMTc.333G>T (p.Pro111=)
n.294G>T
n.252G>T
c.318G>T (p.Pro106=)
n.15G>T
c.78G>T (p.Pro26=)
c.486G>T (p.Pro162=)
n.501G>T
15g.65026917C=CA2183421548MTFMTc.333G= (p.Pro111=)
n.294G=
n.252G=
c.318G= (p.Pro106=)
n.15G=
c.78G= (p.Pro26=)
c.486G= (p.Pro162=)
n.501G=
15g.65026917C>GCA490826825MTFMTc.333G>C (p.Pro111=)
n.294G>C
n.252G>C
c.318G>C (p.Pro106=)
n.15G>C
c.78G>C (p.Pro26=)
c.486G>C (p.Pro162=)
n.501G>C
15g.65026917C>TCA7613389MTFMTc.333G>A (p.Pro111=)
n.294G>A
n.252G>A
c.318G>A (p.Pro106=)
n.15G>A
c.78G>A (p.Pro26=)
c.486G>A (p.Pro162=)
n.501G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026918G>ACA7613390MTFMTc.332C>T (p.Pro111Leu)
n.293C>T
n.251C>T
c.317C>T (p.Pro106Leu)
n.14C>T
c.77C>T (p.Pro26Leu)
c.485C>T (p.Pro162Leu)
n.500C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026918G>CCA271502902MTFMTc.332C>G (p.Pro111Arg)
n.293C>G
n.251C>G
c.317C>G (p.Pro106Arg)
n.14C>G
c.77C>G (p.Pro26Arg)
c.485C>G (p.Pro162Arg)
n.500C>G
 dbSNP
15g.65026918G=CA2183421549MTFMTc.332C= (p.Pro111=)
n.293C=
n.251C=
c.317C= (p.Pro106=)
n.14C=
c.77C= (p.Pro26=)
c.485C= (p.Pro162=)
n.500C=
15g.65026918G>TCA392859200MTFMTc.332C>A (p.Pro111Gln)
n.293C>A
n.251C>A
c.317C>A (p.Pro106Gln)
n.14C>A
c.77C>A (p.Pro26Gln)
c.485C>A (p.Pro162Gln)
n.500C>A
15g.65026919G>ACA392859205MTFMTc.331C>T (p.Pro111Ser)
n.292C>T
n.250C>T
c.316C>T (p.Pro106Ser)
n.13C>T
c.76C>T (p.Pro26Ser)
c.484C>T (p.Pro162Ser)
n.499C>T
 gnomAD v4
15g.65026919G>CCA392859208MTFMTc.331C>G (p.Pro111Ala)
n.292C>G
n.250C>G
c.316C>G (p.Pro106Ala)
n.13C>G
c.76C>G (p.Pro26Ala)
c.484C>G (p.Pro162Ala)
n.499C>G
15g.65026919G>TCA392859212MTFMTc.331C>A (p.Pro111Thr)
n.292C>A
n.250C>A
c.316C>A (p.Pro106Thr)
n.13C>A
c.76C>A (p.Pro26Thr)
c.484C>A (p.Pro162Thr)
n.499C>A
15g.65026920C>ACA392859217MTFMTc.330G>T (p.Trp110Cys)
n.291G>T
n.249G>T
c.315G>T (p.Trp105Cys)
n.12G>T
c.75G>T (p.Trp25Cys)
c.483G>T (p.Trp161Cys)
n.498G>T
15g.65026920C>GCA392859221MTFMTc.330G>C (p.Trp110Cys)
n.291G>C
n.249G>C
c.315G>C (p.Trp105Cys)
n.12G>C
c.75G>C (p.Trp25Cys)
c.483G>C (p.Trp161Cys)
n.498G>C
15g.65026920C>TCA392859225MTFMTc.330G>A (p.Trp110Ter)
n.291G>A
n.249G>A
c.315G>A (p.Trp105Ter)
n.12G>A
c.75G>A (p.Trp25Ter)
c.483G>A (p.Trp161Ter)
n.498G>A
15g.65026921C>ACA392859227MTFMTc.329G>T (p.Trp110Leu)
n.290G>T
n.248G>T
c.314G>T (p.Trp105Leu)
n.11G>T
c.74G>T (p.Trp25Leu)
c.482G>T (p.Trp161Leu)
n.497G>T
15g.65026921C=CA2183421550MTFMTc.329G= (p.Trp110=)
n.290G=
n.248G=
c.314G= (p.Trp105=)
n.11G=
c.74G= (p.Trp25=)
c.482G= (p.Trp161=)
n.497G=
15g.65026921C>GCA392859232MTFMTc.329G>C (p.Trp110Ser)
n.290G>C
n.248G>C
c.314G>C (p.Trp105Ser)
n.11G>C
c.74G>C (p.Trp25Ser)
c.482G>C (p.Trp161Ser)
n.497G>C
15g.65026921C>TCA392859229MTFMTc.329G>A (p.Trp110Ter)
n.290G>A
n.248G>A
c.314G>A (p.Trp105Ter)
n.11G>A
c.74G>A (p.Trp25Ter)
c.482G>A (p.Trp161Ter)
n.497G>A
 dbSNP gnomAD v4
15g.65026922A>CCA392859236MTFMTc.328T>G (p.Trp110Gly)
n.289T>G
n.247T>G
c.313T>G (p.Trp105Gly)
n.10T>G
c.73T>G (p.Trp25Gly)
c.481T>G (p.Trp161Gly)
n.496T>G
15g.65026922A>GCA392859238MTFMTc.328T>C (p.Trp110Arg)
n.289T>C
n.247T>C
c.313T>C (p.Trp105Arg)
n.10T>C
c.73T>C (p.Trp25Arg)
c.481T>C (p.Trp161Arg)
n.496T>C
15g.65026922A>TCA392859241MTFMTc.328T>A (p.Trp110Arg)
n.289T>A
n.247T>A
c.313T>A (p.Trp105Arg)
n.10T>A
c.73T>A (p.Trp25Arg)
c.481T>A (p.Trp161Arg)
n.496T>A
15g.65026923C>ACA392859245MTFMTc.327G>T (p.Glu109Asp)
n.288G>T
n.246G>T
c.312G>T (p.Glu104Asp)
n.9G>T
c.72G>T (p.Glu24Asp)
c.480G>T (p.Glu160Asp)
n.495G>T
15g.65026923C=CA2183421551MTFMTc.327G= (p.Glu109=)
n.288G=
n.246G=
c.312G= (p.Glu104=)
n.9G=
c.72G= (p.Glu24=)
c.480G= (p.Glu160=)
n.495G=
15g.65026923C>GCA392859249MTFMTc.327G>C (p.Glu109Asp)
n.288G>C
n.246G>C
c.312G>C (p.Glu104Asp)
n.9G>C
c.72G>C (p.Glu24Asp)
c.480G>C (p.Glu160Asp)
n.495G>C
15g.65026923C>TCA7613391MTFMTc.327G>A (p.Glu109=)
n.288G>A
n.246G>A
c.312G>A (p.Glu104=)
n.9G>A
c.72G>A (p.Glu24=)
c.480G>A (p.Glu160=)
n.495G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026924T>ACA392859276MTFMTc.326A>T (p.Glu109Val)
n.287A>T
n.245A>T
c.311A>T (p.Glu104Val)
n.8A>T
c.71A>T (p.Glu24Val)
c.479A>T (p.Glu160Val)
n.494A>T
15g.65026924T>CCA392859263MTFMTc.326A>G (p.Glu109Gly)
n.287A>G
n.245A>G
c.311A>G (p.Glu104Gly)
n.8A>G
c.71A>G (p.Glu24Gly)
c.479A>G (p.Glu160Gly)
n.494A>G
15g.65026924T>GCA392859273MTFMTc.326A>C (p.Glu109Ala)
n.287A>C
n.245A>C
c.311A>C (p.Glu104Ala)
n.8A>C
c.71A>C (p.Glu24Ala)
c.479A>C (p.Glu160Ala)
n.494A>C
15g.65026925C>ACA392859281MTFMTc.325G>T (p.Glu109Ter)
n.286G>T
n.244G>T
c.310G>T (p.Glu104Ter)
n.7G>T
c.70G>T (p.Glu24Ter)
c.478G>T (p.Glu160Ter)
n.493G>T
15g.65026925C=CA2183421552MTFMTc.325G= (p.Glu109=)
n.286G=
n.244G=
c.310G= (p.Glu104=)
n.7G=
c.70G= (p.Glu24=)
c.478G= (p.Glu160=)
n.493G=
15g.65026925C>GCA392859282MTFMTc.325G>C (p.Glu109Gln)
n.286G>C
n.244G>C
c.310G>C (p.Glu104Gln)
n.7G>C
c.70G>C (p.Glu24Gln)
c.478G>C (p.Glu160Gln)
n.493G>C
15g.65026925C>TCA392859288MTFMTc.325G>A (p.Glu109Lys)
n.286G>A
n.244G>A
c.310G>A (p.Glu104Lys)
n.7G>A
c.70G>A (p.Glu24Lys)
c.478G>A (p.Glu160Lys)
n.493G>A
 dbSNP
15g.65026926A>CCA392859293MTFMTc.324T>G (p.Tyr108Ter)
n.285T>G
n.243T>G
c.309T>G (p.Tyr103Ter)
n.6T>G
c.69T>G (p.Tyr23Ter)
c.477T>G (p.Tyr159Ter)
n.492T>G
15g.65026926A>GCA490826827MTFMTc.324T>C (p.Tyr108=)
n.285T>C
n.243T>C
c.309T>C (p.Tyr103=)
n.6T>C
c.69T>C (p.Tyr23=)
c.477T>C (p.Tyr159=)
n.492T>C
 ClinVar
15g.65026926A>TCA392859295MTFMTc.324T>A (p.Tyr108Ter)
n.285T>A
n.243T>A
c.309T>A (p.Tyr103Ter)
n.6T>A
c.69T>A (p.Tyr23Ter)
c.477T>A (p.Tyr159Ter)
n.492T>A
15g.65026927T>ACA392859298MTFMTc.323A>T (p.Tyr108Phe)
n.284A>T
n.242A>T
c.308A>T (p.Tyr103Phe)
n.5A>T
c.68A>T (p.Tyr23Phe)
c.476A>T (p.Tyr159Phe)
n.491A>T
15g.65026927T>CCA7613392MTFMTc.323A>G (p.Tyr108Cys)
n.284A>G
n.242A>G
c.308A>G (p.Tyr103Cys)
n.5A>G
c.68A>G (p.Tyr23Cys)
c.476A>G (p.Tyr159Cys)
n.491A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026927T>GCA392859301MTFMTc.323A>C (p.Tyr108Ser)
n.284A>C
n.242A>C
c.308A>C (p.Tyr103Ser)
n.5A>C
c.68A>C (p.Tyr23Ser)
c.476A>C (p.Tyr159Ser)
n.491A>C
15g.65026927T=CA2183421553MTFMTc.323A= (p.Tyr108=)
n.284A=
n.242A=
c.308A= (p.Tyr103=)
n.5A=
c.68A= (p.Tyr23=)
c.476A= (p.Tyr159=)
n.491A=
15g.65026927_65026928delinsTACA2183421554MTFMTc.322_323delinsTA (p.Tyr108=)
n.283_284delinsTA
n.241_242delinsTA
c.307_308delinsTA (p.Tyr103=)
n.4_5delinsTA
c.67_68delinsTA (p.Tyr23=)
c.475_476delinsTA (p.Tyr159=)
n.490_491delinsTA
15g.65026928delCA618956811MTFMTc.322del (p.Tyr108MetfsTer15)
n.283del
n.241del
c.307del (p.Tyr103MetfsTer15)
n.4del
c.67del (p.Tyr23MetfsTer15)
c.475del (p.Tyr159MetfsTer15)
n.490del
 dbSNP gnomAD v2 gnomAD v4
15g.65026928A>CCA392859313MTFMTc.322T>G (p.Tyr108Asp)
n.283T>G
n.241T>G
c.307T>G (p.Tyr103Asp)
n.4T>G
c.67T>G (p.Tyr23Asp)
c.475T>G (p.Tyr159Asp)
n.490T>G
15g.65026928A>GCA392859315MTFMTc.322T>C (p.Tyr108His)
n.283T>C
n.241T>C
c.307T>C (p.Tyr103His)
n.4T>C
c.67T>C (p.Tyr23His)
c.475T>C (p.Tyr159His)
n.490T>C
 gnomAD v4
15g.65026928A>TCA392859317MTFMTc.322T>A (p.Tyr108Asn)
n.283T>A
n.241T>A
c.307T>A (p.Tyr103Asn)
n.4T>A
c.67T>A (p.Tyr23Asn)
c.475T>A (p.Tyr159Asn)
n.490T>A
15g.65026929T>ACA490826828MTFMTc.321A>T (p.Val107=)
n.282A>T
n.240A>T
c.306A>T (p.Val102=)
n.3A>T
c.66A>T (p.Val22=)
c.474A>T (p.Val158=)
n.489A>T
15g.65026929T>CCA490826829MTFMTc.321A>G (p.Val107=)
n.282A>G
n.240A>G
c.306A>G (p.Val102=)
n.3A>G
c.66A>G (p.Val22=)
c.474A>G (p.Val158=)
n.489A>G
 dbSNP gnomAD v3 gnomAD v4
15g.65026929T>GCA490826830MTFMTc.321A>C (p.Val107=)
n.282A>C
n.240A>C
c.306A>C (p.Val102=)
n.3A>C
c.66A>C (p.Val22=)
c.474A>C (p.Val158=)
n.489A>C
15g.65026929T=CA2183421555MTFMTc.321A= (p.Val107=)
n.282A=
n.240A=
c.306A= (p.Val102=)
n.3A=
c.66A= (p.Val22=)
c.474A= (p.Val158=)
n.489A=
15g.65026930A>CCA392859320MTFMTc.320T>G (p.Val107Gly)
n.281T>G
n.239T>G
c.305T>G (p.Val102Gly)
n.2T>G
c.65T>G (p.Val22Gly)
c.473T>G (p.Val158Gly)
n.488T>G
15g.65026930A>GCA392859322MTFMTc.320T>C (p.Val107Ala)
n.281T>C
n.239T>C
c.305T>C (p.Val102Ala)
n.2T>C
c.65T>C (p.Val22Ala)
c.473T>C (p.Val158Ala)
n.488T>C
15g.65026930A>TCA392859325MTFMTc.320T>A (p.Val107Glu)
n.281T>A
n.239T>A
c.305T>A (p.Val102Glu)
n.2T>A
c.65T>A (p.Val22Glu)
c.473T>A (p.Val158Glu)
n.488T>A
15g.65026931C>ACA392859328MTFMTc.319G>T (p.Val107Leu)
n.280G>T
n.238G>T
c.304G>T (p.Val102Leu)
n.1G>T
c.64G>T (p.Val22Leu)
c.472G>T (p.Val158Leu)
n.487G>T
15g.65026931C=CA2183421556MTFMTc.319G= (p.Val107=)
n.280G=
n.238G=
c.304G= (p.Val102=)
n.1G=
c.64G= (p.Val22=)
c.472G= (p.Val158=)
n.487G=
15g.65026931C>GCA7613393MTFMTc.319G>C (p.Val107Leu)
n.280G>C
n.238G>C
c.304G>C (p.Val102Leu)
n.1G>C
c.64G>C (p.Val22Leu)
c.472G>C (p.Val158Leu)
n.487G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026931C>TCA7613394MTFMTc.319G>A (p.Val107Ile)
n.280G>A
n.238G>A
c.304G>A (p.Val102Ile)
n.1G>A
c.64G>A (p.Val22Ile)
c.472G>A (p.Val158Ile)
n.487G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026932G>ACA7613395MTFMTc.318C>T (p.Pro106=)
n.279C>T
n.237C>T
c.303C>T (p.Pro101=)
c.63C>T (p.Pro21=)
c.471C>T (p.Pro157=)
n.486C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026932G>CCA490826831MTFMTc.318C>G (p.Pro106=)
n.279C>G
n.237C>G
c.303C>G (p.Pro101=)
c.63C>G (p.Pro21=)
c.471C>G (p.Pro157=)
n.486C>G
 gnomAD v4
15g.65026932G=CA2183421557MTFMTc.318C= (p.Pro106=)
n.279C=
n.237C=
c.303C= (p.Pro101=)
c.63C= (p.Pro21=)
c.471C= (p.Pro157=)
n.486C=
15g.65026932G>TCA490826832MTFMTc.318C>A (p.Pro106=)
n.279C>A
n.237C>A
c.303C>A (p.Pro101=)
c.63C>A (p.Pro21=)
c.471C>A (p.Pro157=)
n.486C>A
15g.65026933G>ACA392859366MTFMTc.317C>T (p.Pro106Leu)
n.278C>T
n.236C>T
c.302C>T (p.Pro101Leu)
c.62C>T (p.Pro21Leu)
c.470C>T (p.Pro157Leu)
n.485C>T
 gnomAD v4
15g.65026933G>CCA392859361MTFMTc.317C>G (p.Pro106Arg)
n.278C>G
n.236C>G
c.302C>G (p.Pro101Arg)
c.62C>G (p.Pro21Arg)
c.470C>G (p.Pro157Arg)
n.485C>G
15g.65026933G>TCA392859357MTFMTc.317C>A (p.Pro106His)
n.278C>A
n.236C>A
c.302C>A (p.Pro101His)
c.62C>A (p.Pro21His)
c.470C>A (p.Pro157His)
n.485C>A
15g.65026934G>ACA392859383MTFMTc.316C>T (p.Pro106Ser)
n.277C>T
n.235C>T
c.301C>T (p.Pro101Ser)
c.61C>T (p.Pro21Ser)
c.469C>T (p.Pro157Ser)
n.484C>T
15g.65026934G>CCA392859413MTFMTc.316C>G (p.Pro106Ala)
n.277C>G
n.235C>G
c.301C>G (p.Pro101Ala)
c.61C>G (p.Pro21Ala)
c.469C>G (p.Pro157Ala)
n.484C>G
15g.65026934G>TCA392859387MTFMTc.316C>A (p.Pro106Thr)
n.277C>A
n.235C>A
c.301C>A (p.Pro101Thr)
c.61C>A (p.Pro21Thr)
c.469C>A (p.Pro157Thr)
n.484C>A
15g.65026935A>CCA490826833MTFMTc.315T>G (p.Leu105=)
n.276T>G
n.234T>G
c.300T>G (p.Leu100=)
c.60T>G (p.Leu20=)
c.468T>G (p.Leu156=)
n.483T>G
15g.65026935A>GCA490826834MTFMTc.315T>C (p.Leu105=)
n.276T>C
n.234T>C
c.300T>C (p.Leu100=)
c.60T>C (p.Leu20=)
c.468T>C (p.Leu156=)
n.483T>C
15g.65026935A>TCA490826835MTFMTc.315T>A (p.Leu105=)
n.276T>A
n.234T>A
c.300T>A (p.Leu100=)
c.60T>A (p.Leu20=)
c.468T>A (p.Leu156=)
n.483T>A
15g.65026936A>CCA392859426MTFMTc.314T>G (p.Leu105Arg)
n.275T>G
n.233T>G
c.299T>G (p.Leu100Arg)
c.59T>G (p.Leu20Arg)
c.467T>G (p.Leu156Arg)
n.482T>G
15g.65026936A>GCA392859435MTFMTc.314T>C (p.Leu105Pro)
n.275T>C
n.233T>C
c.299T>C (p.Leu100Pro)
c.59T>C (p.Leu20Pro)
c.467T>C (p.Leu156Pro)
n.482T>C
15g.65026936A>TCA392859433MTFMTc.314T>A (p.Leu105His)
n.275T>A
n.233T>A
c.299T>A (p.Leu100His)
c.59T>A (p.Leu20His)
c.467T>A (p.Leu156His)
n.482T>A
15g.65026937G>ACA392859439MTFMTc.313C>T (p.Leu105Phe)
n.274C>T
n.232C>T
c.298C>T (p.Leu100Phe)
c.58C>T (p.Leu20Phe)
c.466C>T (p.Leu156Phe)
n.481C>T
 dbSNP gnomAD v4
15g.65026937G>CCA392859445MTFMTc.313C>G (p.Leu105Val)
n.274C>G
n.232C>G
c.298C>G (p.Leu100Val)
c.58C>G (p.Leu20Val)
c.466C>G (p.Leu156Val)
n.481C>G
15g.65026937G=CA2183421558MTFMTc.313C= (p.Leu105=)
n.274C=
n.232C=
c.298C= (p.Leu100=)
c.58C= (p.Leu20=)
c.466C= (p.Leu156=)
n.481C=
15g.65026937G>TCA392859443MTFMTc.313C>A (p.Leu105Ile)
n.274C>A
n.232C>A
c.298C>A (p.Leu100Ile)
c.58C>A (p.Leu20Ile)
c.466C>A (p.Leu156Ile)
n.481C>A
15g.65026938C>ACA392859450MTFMTc.312G>T (p.Gln104His)
n.273G>T
n.231G>T
c.297G>T (p.Gln99His)
c.57G>T (p.Gln19His)
c.465G>T (p.Gln155His)
n.480G>T
15g.65026938C>GCA392859455MTFMTc.312G>C (p.Gln104His)
n.273G>C
n.231G>C
c.297G>C (p.Gln99His)
c.57G>C (p.Gln19His)
c.465G>C (p.Gln155His)
n.480G>C
15g.65026938C>TCA490826836MTFMTc.312G>A (p.Gln104=)
n.273G>A
n.231G>A
c.297G>A (p.Gln99=)
c.57G>A (p.Gln19=)
c.465G>A (p.Gln155=)
n.480G>A
15g.65026939T>ACA392859460MTFMTc.311A>T (p.Gln104Leu)
n.272A>T
n.230A>T
c.296A>T (p.Gln99Leu)
c.56A>T (p.Gln19Leu)
c.464A>T (p.Gln155Leu)
n.479A>T
15g.65026939T>CCA392859482MTFMTc.311A>G (p.Gln104Arg)
n.272A>G
n.230A>G
c.296A>G (p.Gln99Arg)
c.56A>G (p.Gln19Arg)
c.464A>G (p.Gln155Arg)
n.479A>G
15g.65026939T>GCA392859483MTFMTc.311A>C (p.Gln104Pro)
n.272A>C
n.230A>C
c.296A>C (p.Gln99Pro)
c.56A>C (p.Gln19Pro)
c.464A>C (p.Gln155Pro)
n.479A>C
15g.65026940G>ACA392859486MTFMTc.310C>T (p.Gln104Ter)
n.271C>T
n.229C>T
c.295C>T (p.Gln99Ter)
c.55C>T (p.Gln19Ter)
c.463C>T (p.Gln155Ter)
n.478C>T
 dbSNP gnomAD v4
15g.65026940G>CCA392859488MTFMTc.310C>G (p.Gln104Glu)
n.271C>G
n.229C>G
c.295C>G (p.Gln99Glu)
c.55C>G (p.Gln19Glu)
c.463C>G (p.Gln155Glu)
n.478C>G
15g.65026940G=CA2183421559MTFMTc.310C= (p.Gln104=)
n.271C=
n.229C=
c.295C= (p.Gln99=)
c.55C= (p.Gln19=)
c.463C= (p.Gln155=)
n.478C=
15g.65026940G>TCA392859491MTFMTc.310C>A (p.Gln104Lys)
n.271C>A
n.229C>A
c.295C>A (p.Gln99Lys)
c.55C>A (p.Gln19Lys)
c.463C>A (p.Gln155Lys)
n.478C>A
15g.65026941A>CCA490826837MTFMTc.309T>G (p.Ser103=)
n.270T>G
n.228T>G
c.294T>G (p.Ser98=)
c.54T>G (p.Ser18=)
c.462T>G (p.Ser154=)
n.477T>G
15g.65026941A>GCA490826838MTFMTc.309T>C (p.Ser103=)
n.270T>C
n.228T>C
c.294T>C (p.Ser98=)
c.54T>C (p.Ser18=)
c.462T>C (p.Ser154=)
n.477T>C
15g.65026941A>TCA490826839MTFMTc.309T>A (p.Ser103=)
n.270T>A
n.228T>A
c.294T>A (p.Ser98=)
c.54T>A (p.Ser18=)
c.462T>A (p.Ser154=)
n.477T>A
15g.65026941dupCA2628982765MTFMTc.309dup (p.Gln104SerfsTer6)
n.270dup
n.228dup
c.294dup (p.Gln99SerfsTer6)
c.54dup (p.Gln19SerfsTer6)
c.462dup (p.Gln155SerfsTer6)
n.477dup
 gnomAD v4
15g.65026942G>ACA392859495MTFMTc.308C>T (p.Ser103Phe)
n.269C>T
n.227C>T
c.293C>T (p.Ser98Phe)
c.53C>T (p.Ser18Phe)
c.461C>T (p.Ser154Phe)
n.476C>T
 gnomAD v4
15g.65026942G>CCA392859496MTFMTc.308C>G (p.Ser103Cys)
n.269C>G
n.227C>G
c.293C>G (p.Ser98Cys)
c.53C>G (p.Ser18Cys)
c.461C>G (p.Ser154Cys)
n.476C>G
15g.65026942G>TCA392859497MTFMTc.308C>A (p.Ser103Tyr)
n.269C>A
n.227C>A
c.293C>A (p.Ser98Tyr)
c.53C>A (p.Ser18Tyr)
c.461C>A (p.Ser154Tyr)
n.476C>A
15g.65026943A>CCA392859502MTFMTc.307T>G (p.Ser103Ala)
n.268T>G
n.226T>G
c.292T>G (p.Ser98Ala)
c.52T>G (p.Ser18Ala)
c.460T>G (p.Ser154Ala)
n.475T>G
15g.65026943A>GCA392859508MTFMTc.307T>C (p.Ser103Pro)
n.268T>C
n.226T>C
c.292T>C (p.Ser98Pro)
c.52T>C (p.Ser18Pro)
c.460T>C (p.Ser154Pro)
n.475T>C
15g.65026943A>TCA392859506MTFMTc.307T>A (p.Ser103Thr)
n.268T>A
n.226T>A
c.292T>A (p.Ser98Thr)
c.52T>A (p.Ser18Thr)
c.460T>A (p.Ser154Thr)
n.475T>A
15g.65026944C>ACA392859510MTFMTc.306G>T (p.Gln102His)
n.267G>T
n.225G>T
c.291G>T (p.Gln97His)
c.51G>T (p.Gln17His)
c.459G>T (p.Gln153His)
n.474G>T
15g.65026944C>GCA392859511MTFMTc.306G>C (p.Gln102His)
n.267G>C
n.225G>C
c.291G>C (p.Gln97His)
c.51G>C (p.Gln17His)
c.459G>C (p.Gln153His)
n.474G>C
15g.65026944C>TCA490826840MTFMTc.306G>A (p.Gln102=)
n.267G>A
n.225G>A
c.291G>A (p.Gln97=)
c.51G>A (p.Gln17=)
c.459G>A (p.Gln153=)
n.474G>A
15g.65026945T>ACA392859514MTFMTc.305A>T (p.Gln102Leu)
n.266A>T
n.224A>T
c.290A>T (p.Gln97Leu)
c.50A>T (p.Gln17Leu)
c.458A>T (p.Gln153Leu)
n.473A>T
15g.65026945T>CCA392859521MTFMTc.305A>G (p.Gln102Arg)
n.266A>G
n.224A>G
c.290A>G (p.Gln97Arg)
c.50A>G (p.Gln17Arg)
c.458A>G (p.Gln153Arg)
n.473A>G
15g.65026945T>GCA392859522MTFMTc.305A>C (p.Gln102Pro)
n.266A>C
n.224A>C
c.290A>C (p.Gln97Pro)
c.50A>C (p.Gln17Pro)
c.458A>C (p.Gln153Pro)
n.473A>C
15g.65026946G>ACA392859531MTFMTc.304C>T (p.Gln102Ter)
n.265C>T
n.223C>T
c.289C>T (p.Gln97Ter)
c.49C>T (p.Gln17Ter)
c.457C>T (p.Gln153Ter)
n.472C>T
15g.65026946G>CCA392859535MTFMTc.304C>G (p.Gln102Glu)
n.265C>G
n.223C>G
c.289C>G (p.Gln97Glu)
c.49C>G (p.Gln17Glu)
c.457C>G (p.Gln153Glu)
n.472C>G
15g.65026946G>TCA392859543MTFMTc.304C>A (p.Gln102Lys)
n.265C>A
n.223C>A
c.289C>A (p.Gln97Lys)
c.49C>A (p.Gln17Lys)
c.457C>A (p.Gln153Lys)
n.472C>A
15g.65026947C>ACA7613396MTFMTc.303G>T (p.Val101=)
n.264G>T
n.222G>T
c.288G>T (p.Val96=)
c.48G>T (p.Val16=)
c.456G>T (p.Val152=)
n.471G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026947C=CA2183421560MTFMTc.303G= (p.Val101=)
n.264G=
n.222G=
c.288G= (p.Val96=)
c.48G= (p.Val16=)
c.456G= (p.Val152=)
n.471G=
15g.65026947C>GCA490826841MTFMTc.303G>C (p.Val101=)
n.264G>C
n.222G>C
c.288G>C (p.Val96=)
c.48G>C (p.Val16=)
c.456G>C (p.Val152=)
n.471G>C
15g.65026947C>TCA490826842MTFMTc.303G>A (p.Val101=)
n.264G>A
n.222G>A
c.288G>A (p.Val96=)
c.48G>A (p.Val16=)
c.456G>A (p.Val152=)
n.471G>A
15g.65026948A>CCA392859561MTFMTc.302T>G (p.Val101Gly)
n.263T>G
n.221T>G
c.287T>G (p.Val96Gly)
c.47T>G (p.Val16Gly)
c.455T>G (p.Val152Gly)
n.470T>G
15g.65026948A>GCA392859565MTFMTc.302T>C (p.Val101Ala)
n.263T>C
n.221T>C
c.287T>C (p.Val96Ala)
c.47T>C (p.Val16Ala)
c.455T>C (p.Val152Ala)
n.470T>C
15g.65026948A>TCA392859552MTFMTc.302T>A (p.Val101Glu)
n.263T>A
n.221T>A
c.287T>A (p.Val96Glu)
c.47T>A (p.Val16Glu)
c.455T>A (p.Val152Glu)
n.470T>A
15g.65026949C>ACA392859571MTFMTc.301G>T (p.Val101Leu)
n.262G>T
n.220G>T
c.286G>T (p.Val96Leu)
c.46G>T (p.Val16Leu)
c.454G>T (p.Val152Leu)
n.469G>T
15g.65026949C>GCA392859573MTFMTc.301G>C (p.Val101Leu)
n.262G>C
n.220G>C
c.286G>C (p.Val96Leu)
c.46G>C (p.Val16Leu)
c.454G>C (p.Val152Leu)
n.469G>C
15g.65026949C>TCA392859581MTFMTc.301G>A (p.Val101Met)
n.262G>A
n.220G>A
c.286G>A (p.Val96Met)
c.46G>A (p.Val16Met)
c.454G>A (p.Val152Met)
n.469G>A
15g.65026950A>CCA490826843MTFMTc.300T>G (p.Ala100=)
n.261T>G
n.219T>G
c.285T>G (p.Ala95=)
c.45T>G (p.Ala15=)
c.453T>G (p.Ala151=)
n.468T>G
15g.65026950A>GCA490826845MTFMTc.300T>C (p.Ala100=)
n.261T>C
n.219T>C
c.285T>C (p.Ala95=)
c.45T>C (p.Ala15=)
c.453T>C (p.Ala151=)
n.468T>C
 gnomAD v4
15g.65026950A>TCA490826844MTFMTc.300T>A (p.Ala100=)
n.261T>A
n.219T>A
c.285T>A (p.Ala95=)
c.45T>A (p.Ala15=)
c.453T>A (p.Ala151=)
n.468T>A
15g.65026951G>ACA7613397MTFMTc.299C>T (p.Ala100Val)
n.260C>T
n.218C>T
c.284C>T (p.Ala95Val)
c.44C>T (p.Ala15Val)
c.452C>T (p.Ala151Val)
n.467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026951G>CCA392859592MTFMTc.299C>G (p.Ala100Gly)
n.260C>G
n.218C>G
c.284C>G (p.Ala95Gly)
c.44C>G (p.Ala15Gly)
c.452C>G (p.Ala151Gly)
n.467C>G
15g.65026951G=CA2183421561MTFMTc.299C= (p.Ala100=)
n.260C=
n.218C=
c.284C= (p.Ala95=)
c.44C= (p.Ala15=)
c.452C= (p.Ala151=)
n.467C=
15g.65026951G>TCA392859594MTFMTc.299C>A (p.Ala100Asp)
n.260C>A
n.218C>A
c.284C>A (p.Ala95Asp)
c.44C>A (p.Ala15Asp)
c.452C>A (p.Ala151Asp)
n.467C>A
15g.65026952C>ACA392859598MTFMTc.298G>T (p.Ala100Ser)
n.259G>T
n.217G>T
c.283G>T (p.Ala95Ser)
c.43G>T (p.Ala15Ser)
c.451G>T (p.Ala151Ser)
n.466G>T
15g.65026952C>GCA392859600MTFMTc.298G>C (p.Ala100Pro)
n.259G>C
n.217G>C
c.283G>C (p.Ala95Pro)
c.43G>C (p.Ala15Pro)
c.451G>C (p.Ala151Pro)
n.466G>C
15g.65026952C>TCA392859604MTFMTc.298G>A (p.Ala100Thr)
n.259G>A
n.217G>A
c.283G>A (p.Ala95Thr)
c.43G>A (p.Ala15Thr)
c.451G>A (p.Ala151Thr)
n.466G>A
15g.65026953A>CCA392859614MTFMTc.297T>G (p.Tyr99Ter)
n.258T>G
n.216T>G
c.282T>G (p.Tyr94Ter)
c.42T>G (p.Tyr14Ter)
c.450T>G (p.Tyr150Ter)
n.465T>G
15g.65026953A>GCA490826846MTFMTc.297T>C (p.Tyr99=)
n.258T>C
n.216T>C
c.282T>C (p.Tyr94=)
c.42T>C (p.Tyr14=)
c.450T>C (p.Tyr150=)
n.465T>C
15g.65026953A>TCA392859617MTFMTc.297T>A (p.Tyr99Ter)
n.258T>A
n.216T>A
c.282T>A (p.Tyr94Ter)
c.42T>A (p.Tyr14Ter)
c.450T>A (p.Tyr150Ter)
n.465T>A
15g.65026954T>ACA392859628MTFMTc.296A>T (p.Tyr99Phe)
n.257A>T
n.215A>T
c.281A>T (p.Tyr94Phe)
c.41A>T (p.Tyr14Phe)
c.449A>T (p.Tyr150Phe)
n.464A>T
15g.65026954T>CCA392859630MTFMTc.296A>G (p.Tyr99Cys)
n.257A>G
n.215A>G
c.281A>G (p.Tyr94Cys)
c.41A>G (p.Tyr14Cys)
c.449A>G (p.Tyr150Cys)
n.464A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65026954T>GCA392859623MTFMTc.296A>C (p.Tyr99Ser)
n.257A>C
n.215A>C
c.281A>C (p.Tyr94Ser)
c.41A>C (p.Tyr14Ser)
c.449A>C (p.Tyr150Ser)
n.464A>C
15g.65026954T=CA2183421562MTFMTc.296A= (p.Tyr99=)
n.257A=
n.215A=
c.281A= (p.Tyr94=)
c.41A= (p.Tyr14=)
c.449A= (p.Tyr150=)
n.464A=
15g.65026955A=CA2183421563MTFMTc.295T= (p.Tyr99=)
n.256T=
n.214T=
c.280T= (p.Tyr94=)
c.40T= (p.Tyr14=)
c.448T= (p.Tyr150=)
n.463T=
15g.65026955A>CCA392859633MTFMTc.295T>G (p.Tyr99Asp)
n.256T>G
n.214T>G
c.280T>G (p.Tyr94Asp)
c.40T>G (p.Tyr14Asp)
c.448T>G (p.Tyr150Asp)
n.463T>G
15g.65026955A>GCA392859637MTFMTc.295T>C (p.Tyr99His)
n.256T>C
n.214T>C
c.280T>C (p.Tyr94His)
c.40T>C (p.Tyr14His)
c.448T>C (p.Tyr150His)
n.463T>C
 dbSNP gnomAD v3 gnomAD v4
15g.65026955A>TCA392859641MTFMTc.295T>A (p.Tyr99Asn)
n.256T>A
n.214T>A
c.280T>A (p.Tyr94Asn)
c.40T>A (p.Tyr14Asn)
c.448T>A (p.Tyr150Asn)
n.463T>A
15g.65026956T>ACA392859644MTFMTc.294A>T (p.Gln98His)
n.255A>T
n.213A>T
c.279A>T (p.Gln93His)
c.39A>T (p.Gln13His)
c.447A>T (p.Gln149His)
n.462A>T
15g.65026956T>CCA490826847MTFMTc.294A>G (p.Gln98=)
n.255A>G
n.213A>G
c.279A>G (p.Gln93=)
c.39A>G (p.Gln13=)
c.447A>G (p.Gln149=)
n.462A>G
 gnomAD v4
15g.65026956T>GCA392859647MTFMTc.294A>C (p.Gln98His)
n.255A>C
n.213A>C
c.279A>C (p.Gln93His)
c.39A>C (p.Gln13His)
c.447A>C (p.Gln149His)
n.462A>C
15g.65026957T>ACA392859660MTFMTc.293A>T (p.Gln98Leu)
n.254A>T
n.212A>T
c.278A>T (p.Gln93Leu)
c.38A>T (p.Gln13Leu)
c.446A>T (p.Gln149Leu)
n.461A>T
15g.65026957T>CCA392859657MTFMTc.293A>G (p.Gln98Arg)
n.254A>G
n.212A>G
c.278A>G (p.Gln93Arg)
c.38A>G (p.Gln13Arg)
c.446A>G (p.Gln149Arg)
n.461A>G
 dbSNP gnomAD v2 gnomAD v4
15g.65026957T>GCA392859659MTFMTc.293A>C (p.Gln98Pro)
n.254A>C
n.212A>C
c.278A>C (p.Gln93Pro)
c.38A>C (p.Gln13Pro)
c.446A>C (p.Gln149Pro)
n.461A>C
15g.65026957T=CA2183421564MTFMTc.293A= (p.Gln98=)
n.254A=
n.212A=
c.278A= (p.Gln93=)
c.38A= (p.Gln13=)
c.446A= (p.Gln149=)
n.461A=
15g.65026958G>ACA392859663MTFMTc.292C>T (p.Gln98Ter)
n.253C>T
n.211C>T
c.277C>T (p.Gln93Ter)
c.37C>T (p.Gln13Ter)
c.445C>T (p.Gln149Ter)
n.460C>T
15g.65026958G>CCA392859668MTFMTc.292C>G (p.Gln98Glu)
n.253C>G
n.211C>G
c.277C>G (p.Gln93Glu)
c.37C>G (p.Gln13Glu)
c.445C>G (p.Gln149Glu)
n.460C>G
15g.65026958G>TCA392859673MTFMTc.292C>A (p.Gln98Lys)
n.253C>A
n.211C>A
c.277C>A (p.Gln93Lys)
c.37C>A (p.Gln13Lys)
c.445C>A (p.Gln149Lys)
n.460C>A
15g.65026959C>ACA392859675MTFMTc.291G>T (p.Lys97Asn)
n.252G>T
n.210G>T
c.276G>T (p.Lys92Asn)
c.36G>T (p.Lys12Asn)
c.444G>T (p.Lys148Asn)
n.459G>T
15g.65026959C>GCA392859676MTFMTc.291G>C (p.Lys97Asn)
n.252G>C
n.210G>C
c.276G>C (p.Lys92Asn)
c.36G>C (p.Lys12Asn)
c.444G>C (p.Lys148Asn)
n.459G>C
15g.65026959C>TCA490826848MTFMTc.291G>A (p.Lys97=)
n.252G>A
n.210G>A
c.276G>A (p.Lys92=)
c.36G>A (p.Lys12=)
c.444G>A (p.Lys148=)
n.459G>A
15g.65026960T>ACA392859689MTFMTc.290A>T (p.Lys97Met)
n.251A>T
n.209A>T
c.275A>T (p.Lys92Met)
c.35A>T (p.Lys12Met)
c.443A>T (p.Lys148Met)
n.458A>T
15g.65026960T>CCA7613398MTFMTc.290A>G (p.Lys97Arg)
n.251A>G
n.209A>G
c.275A>G (p.Lys92Arg)
c.35A>G (p.Lys12Arg)
c.443A>G (p.Lys148Arg)
n.458A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026960T>GCA392859679MTFMTc.290A>C (p.Lys97Thr)
n.251A>C
n.209A>C
c.275A>C (p.Lys92Thr)
c.35A>C (p.Lys12Thr)
c.443A>C (p.Lys148Thr)
n.458A>C
 dbSNP gnomAD v2 gnomAD v4
15g.65026960T=CA2183421565MTFMTc.290A= (p.Lys97=)
n.251A=
n.209A=
c.275A= (p.Lys92=)
c.35A= (p.Lys12=)
c.443A= (p.Lys148=)
n.458A=
15g.65026961T>ACA392859693MTFMTc.289A>T (p.Lys97Ter)
n.250A>T
n.208A>T
c.274A>T (p.Lys92Ter)
c.34A>T (p.Lys12Ter)
c.442A>T (p.Lys148Ter)
n.457A>T
 gnomAD v4
15g.65026961T>CCA392859699MTFMTc.289A>G (p.Lys97Glu)
n.250A>G
n.208A>G
c.274A>G (p.Lys92Glu)
c.34A>G (p.Lys12Glu)
c.442A>G (p.Lys148Glu)
n.457A>G
15g.65026961T>GCA271502946MTFMTc.289A>C (p.Lys97Gln)
n.250A>C
n.208A>C
c.274A>C (p.Lys92Gln)
c.34A>C (p.Lys12Gln)
c.442A>C (p.Lys148Gln)
n.457A>C
 dbSNP
15g.65026961T=CA2183421566MTFMTc.289A= (p.Lys97=)
n.250A=
n.208A=
c.274A= (p.Lys92=)
c.34A= (p.Lys12=)
c.442A= (p.Lys148=)
n.457A=
15g.65026962C>ACA490826849MTFMTc.288G>T (p.Val96=)
n.249G>T
n.207G>T
c.273G>T (p.Val91=)
c.33G>T (p.Val11=)
c.441G>T (p.Val147=)
n.456G>T
15g.65026962C>GCA490826850MTFMTc.288G>C (p.Val96=)
n.249G>C
n.207G>C
c.273G>C (p.Val91=)
c.33G>C (p.Val11=)
c.441G>C (p.Val147=)
n.456G>C
15g.65026962C>TCA490826851MTFMTc.288G>A (p.Val96=)
n.249G>A
n.207G>A
c.273G>A (p.Val91=)
c.33G>A (p.Val11=)
c.441G>A (p.Val147=)
n.456G>A
15g.65026963A>CCA392859705MTFMTc.287T>G (p.Val96Gly)
n.248T>G
n.206T>G
c.272T>G (p.Val91Gly)
c.32T>G (p.Val11Gly)
c.440T>G (p.Val147Gly)
n.455T>G
15g.65026963A>GCA392859708MTFMTc.287T>C (p.Val96Ala)
n.248T>C
n.206T>C
c.272T>C (p.Val91Ala)
c.32T>C (p.Val11Ala)
c.440T>C (p.Val147Ala)
n.455T>C
 gnomAD v4
15g.65026963A>TCA392859709MTFMTc.287T>A (p.Val96Glu)
n.248T>A
n.206T>A
c.272T>A (p.Val91Glu)
c.32T>A (p.Val11Glu)
c.440T>A (p.Val147Glu)
n.455T>A
15g.65026964C>ACA392859712MTFMTc.286G>T (p.Val96Leu)
n.247G>T
n.205G>T
c.271G>T (p.Val91Leu)
c.31G>T (p.Val11Leu)
c.439G>T (p.Val147Leu)
n.454G>T
15g.65026964C=CA2183421567MTFMTc.286G= (p.Val96=)
n.247G=
n.205G=
c.271G= (p.Val91=)
c.31G= (p.Val11=)
c.439G= (p.Val147=)
n.454G=
15g.65026964C>GCA392859716MTFMTc.286G>C (p.Val96Leu)
n.247G>C
n.205G>C
c.271G>C (p.Val91Leu)
c.31G>C (p.Val11Leu)
c.439G>C (p.Val147Leu)
n.454G>C
 dbSNP gnomAD v4
15g.65026964C>TCA392859718MTFMTc.286G>A (p.Val96Met)
n.247G>A
n.205G>A
c.271G>A (p.Val91Met)
c.31G>A (p.Val11Met)
c.439G>A (p.Val147Met)
n.454G>A
 dbSNP gnomAD v2 gnomAD v4
15g.65026965T>ACA490826852MTFMTc.285A>T (p.Pro95=)
n.246A>T
n.204A>T
c.270A>T (p.Pro90=)
c.30A>T (p.Pro10=)
c.438A>T (p.Pro146=)
n.453A>T
15g.65026965T>CCA490826853MTFMTc.285A>G (p.Pro95=)
n.246A>G
n.204A>G
c.270A>G (p.Pro90=)
c.30A>G (p.Pro10=)
c.438A>G (p.Pro146=)
n.453A>G
15g.65026965T>GCA490826854MTFMTc.285A>C (p.Pro95=)
n.246A>C
n.204A>C
c.270A>C (p.Pro90=)
c.30A>C (p.Pro10=)
c.438A>C (p.Pro146=)
n.453A>C
 dbSNP gnomAD v2 gnomAD v4
15g.65026965T=CA2183421568MTFMTc.285A= (p.Pro95=)
n.246A=
n.204A=
c.270A= (p.Pro90=)
c.30A= (p.Pro10=)
c.438A= (p.Pro146=)
n.453A=
15g.65026966G>ACA392859721MTFMTc.284C>T (p.Pro95Leu)
n.245C>T
n.203C>T
c.269C>T (p.Pro90Leu)
c.29C>T (p.Pro10Leu)
c.437C>T (p.Pro146Leu)
n.452C>T
 dbSNP gnomAD v2
15g.65026966G>CCA392859725MTFMTc.284C>G (p.Pro95Arg)
n.245C>G
n.203C>G
c.269C>G (p.Pro90Arg)
c.29C>G (p.Pro10Arg)
c.437C>G (p.Pro146Arg)
n.452C>G
15g.65026966G=CA2183421569MTFMTc.284C= (p.Pro95=)
n.245C=
n.203C=
c.269C= (p.Pro90=)
c.29C= (p.Pro10=)
c.437C= (p.Pro146=)
n.452C=
15g.65026966G>TCA392859728MTFMTc.284C>A (p.Pro95Gln)
n.245C>A
n.203C>A
c.269C>A (p.Pro90Gln)
c.29C>A (p.Pro10Gln)
c.437C>A (p.Pro146Gln)
n.452C>A
15g.65026967G>ACA7613399MTFMTc.283C>T (p.Pro95Ser)
n.244C>T
n.202C>T
c.268C>T (p.Pro90Ser)
c.28C>T (p.Pro10Ser)
c.436C>T (p.Pro146Ser)
n.451C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65026967G>CCA392859739MTFMTc.283C>G (p.Pro95Ala)
n.244C>G
n.202C>G
c.268C>G (p.Pro90Ala)
c.28C>G (p.Pro10Ala)
c.436C>G (p.Pro146Ala)
n.451C>G
15g.65026967G=CA2183421570MTFMTc.283C= (p.Pro95=)
n.244C=
n.202C=
c.268C= (p.Pro90=)
c.28C= (p.Pro10=)
c.436C= (p.Pro146=)
n.451C=
15g.65026967G>TCA392859746MTFMTc.283C>A (p.Pro95Thr)
n.244C>A
n.202C>A
c.268C>A (p.Pro90Thr)
c.28C>A (p.Pro10Thr)
c.436C>A (p.Pro146Thr)
n.451C>A
15g.65026968C>ACA490826855MTFMTc.282G>T (p.Leu94=)
n.243G>T
n.201G>T
c.267G>T (p.Leu89=)
c.27G>T (p.Leu9=)
c.435G>T (p.Leu145=)
n.450G>T
 dbSNP gnomAD v2 gnomAD v4
15g.65026968C=CA2183421571MTFMTc.282G= (p.Leu94=)
n.243G=
n.201G=
c.267G= (p.Leu89=)
c.27G= (p.Leu9=)
c.435G= (p.Leu145=)
n.450G=
15g.65026968C>GCA490826856MTFMTc.282G>C (p.Leu94=)
n.243G>C
n.201G>C
c.267G>C (p.Leu89=)
c.27G>C (p.Leu9=)
c.435G>C (p.Leu145=)
n.450G>C
15g.65026968C>TCA490826857MTFMTc.282G>A (p.Leu94=)
n.243G>A
n.201G>A
c.267G>A (p.Leu89=)
c.27G>A (p.Leu9=)
c.435G>A (p.Leu145=)
n.450G>A
 dbSNP gnomAD v3 gnomAD v4
15g.65026969A>CCA392859758MTFMTc.281T>G (p.Leu94Arg)
n.242T>G
n.200T>G
c.266T>G (p.Leu89Arg)
c.26T>G (p.Leu9Arg)
c.434T>G (p.Leu145Arg)
n.449T>G
 ClinVar
15g.65026969A>GCA392859749MTFMTc.281T>C (p.Leu94Pro)
n.242T>C
n.200T>C
c.266T>C (p.Leu89Pro)
c.26T>C (p.Leu9Pro)
c.434T>C (p.Leu145Pro)
n.449T>C
15g.65026969A>TCA392859753MTFMTc.281T>A (p.Leu94Gln)
n.242T>A
n.200T>A
c.266T>A (p.Leu89Gln)
c.26T>A (p.Leu9Gln)
c.434T>A (p.Leu145Gln)
n.449T>A
15g.65026970G>ACA490826858MTFMTc.280C>T (p.Leu94=)
n.241C>T
n.199C>T
c.265C>T (p.Leu89=)
c.25C>T (p.Leu9=)
c.433C>T (p.Leu145=)
n.448C>T
15g.65026970G>CCA7613400MTFMTc.280C>G (p.Leu94Val)
n.241C>G
n.199C>G
c.265C>G (p.Leu89Val)
c.25C>G (p.Leu9Val)
c.433C>G (p.Leu145Val)
n.448C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026970G=CA2183421572MTFMTc.280C= (p.Leu94=)
n.241C=
n.199C=
c.265C= (p.Leu89=)
c.25C= (p.Leu9=)
c.433C= (p.Leu145=)
n.448C=
15g.65026970G>TCA392859764MTFMTc.280C>A (p.Leu94Met)
n.241C>A
n.199C>A
c.265C>A (p.Leu89Met)
c.25C>A (p.Leu9Met)
c.433C>A (p.Leu145Met)
n.448C>A
15g.65026971T>ACA490826859MTFMTc.279A>T (p.Gly93=)
n.240A>T
n.198A>T
c.264A>T (p.Gly88=)
c.24A>T (p.Gly8=)
c.432A>T (p.Gly144=)
n.447A>T
15g.65026971T>CCA490826860MTFMTc.279A>G (p.Gly93=)
n.240A>G
n.198A>G
c.264A>G (p.Gly88=)
c.24A>G (p.Gly8=)
c.432A>G (p.Gly144=)
n.447A>G
15g.65026971T>GCA490826861MTFMTc.279A>C (p.Gly93=)
n.240A>C
n.198A>C
c.264A>C (p.Gly88=)
c.24A>C (p.Gly8=)
c.432A>C (p.Gly144=)
n.447A>C
15g.65026972C>ACA392859769MTFMTc.278G>T (p.Gly93Val)
n.239G>T
n.197G>T
c.263G>T (p.Gly88Val)
c.23G>T (p.Gly8Val)
c.431G>T (p.Gly144Val)
n.446G>T
15g.65026972C=CA2183421573MTFMTc.278G= (p.Gly93=)
n.239G=
n.197G=
c.263G= (p.Gly88=)
c.23G= (p.Gly8=)
c.431G= (p.Gly144=)
n.446G=
15g.65026972C>GCA7613401MTFMTc.278G>C (p.Gly93Ala)
n.239G>C
n.197G>C
c.263G>C (p.Gly88Ala)
c.23G>C (p.Gly8Ala)
c.431G>C (p.Gly144Ala)
n.446G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.65026972C>TCA392859774MTFMTc.278G>A (p.Gly93Glu)
n.239G>A
n.197G>A
c.263G>A (p.Gly88Glu)
c.23G>A (p.Gly8Glu)
c.431G>A (p.Gly144Glu)
n.446G>A
15g.65026973C>ACA392859781MTFMTc.277G>T (p.Gly93Ter)
n.238G>T
n.196G>T
c.262G>T (p.Gly88Ter)
c.22G>T (p.Gly8Ter)
c.430G>T (p.Gly144Ter)
n.445G>T
15g.65026973C>GCA392859788MTFMTc.277G>C (p.Gly93Arg)
n.238G>C
n.196G>C
c.262G>C (p.Gly88Arg)
c.22G>C (p.Gly8Arg)
c.430G>C (p.Gly144Arg)
n.445G>C
15g.65026973C>TCA392859792MTFMTc.277G>A (p.Gly93Arg)
n.238G>A
n.196G>A
c.262G>A (p.Gly88Arg)
c.22G>A (p.Gly8Arg)
c.430G>A (p.Gly144Arg)
n.445G>A
 gnomAD v4
15g.65026974T>ACA392859797MTFMTc.276A>T (p.Lys92Asn)
n.237A>T
n.195A>T
c.261A>T (p.Lys87Asn)
c.21A>T (p.Lys7Asn)
c.429A>T (p.Lys143Asn)
n.444A>T
15g.65026974T>CCA490826862MTFMTc.276A>G (p.Lys92=)
n.237A>G
n.195A>G
c.261A>G (p.Lys87=)
c.21A>G (p.Lys7=)
c.429A>G (p.Lys143=)
n.444A>G
15g.65026974T>GCA392859801MTFMTc.276A>C (p.Lys92Asn)
n.237A>C
n.195A>C
c.261A>C (p.Lys87Asn)
c.21A>C (p.Lys7Asn)
c.429A>C (p.Lys143Asn)
n.444A>C
15g.65026975T>ACA392859821MTFMTc.275A>T (p.Lys92Ile)
n.236A>T
n.194A>T
c.260A>T (p.Lys87Ile)
c.20A>T (p.Lys7Ile)
c.428A>T (p.Lys143Ile)
n.443A>T
15g.65026975T>CCA392859818MTFMTc.275A>G (p.Lys92Arg)
n.236A>G
n.194A>G
c.260A>G (p.Lys87Arg)
c.20A>G (p.Lys7Arg)
c.428A>G (p.Lys143Arg)
n.443A>G
 gnomAD v4
15g.65026975T>GCA392859807MTFMTc.275A>C (p.Lys92Thr)
n.236A>C
n.194A>C
c.260A>C (p.Lys87Thr)
c.20A>C (p.Lys7Thr)
c.428A>C (p.Lys143Thr)
n.443A>C
15g.65026976T>ACA392859826MTFMTc.274A>T (p.Lys92Ter)
n.235A>T
n.193A>T
c.259A>T (p.Lys87Ter)
c.19A>T (p.Lys7Ter)
c.427A>T (p.Lys143Ter)
n.442A>T
15g.65026976T>CCA392859831MTFMTc.274A>G (p.Lys92Glu)
n.235A>G
n.193A>G
c.259A>G (p.Lys87Glu)
c.19A>G (p.Lys7Glu)
c.427A>G (p.Lys143Glu)
n.442A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.65026976T>GCA392859832MTFMTc.274A>C (p.Lys92Gln)
n.235A>C
n.193A>C
c.259A>C (p.Lys87Gln)
c.19A>C (p.Lys7Gln)
c.427A>C (p.Lys143Gln)
n.442A>C
15g.65026976T=CA2183421574MTFMTc.274A= (p.Lys92=)
n.235A=
n.193A=
c.259A= (p.Lys87=)
c.19A= (p.Lys7=)
c.427A= (p.Lys143=)
n.442A=

Number of alleles fetched