Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710431_230710440delCA1013239946AGTc.387_396del (p.Val130ProfsTer?)
n.898_907del
c.414_423del (p.Val139ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.230710438G>ACA345206749AGTc.386C>T (p.Ala129Val)
n.897C>T
c.413C>T (p.Ala138Val)
1g.230710438G>CCA345206750AGTc.386C>G (p.Ala129Gly)
n.897C>G
c.413C>G (p.Ala138Gly)
1g.230710438G>TCA345206751AGTc.386C>A (p.Ala129Asp)
n.897C>A
c.413C>A (p.Ala138Asp)
1g.230710439C>ACA1448306AGTc.385G>T (p.Ala129Ser)
n.896G>T
c.412G>T (p.Ala138Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710439C=CA1140727499AGTc.385G= (p.Ala129=)
n.896G=
c.412G= (p.Ala138=)
1g.230710439C>GCA345206752AGTc.385G>C (p.Ala129Pro)
n.896G>C
c.412G>C (p.Ala138Pro)
1g.230710439C>TCA345206753AGTc.385G>A (p.Ala129Thr)
n.896G>A
c.412G>A (p.Ala138Thr)
COSMIC
1g.230710440C>ACA424036858AGTc.384G>T (p.Thr128=)
n.895G>T
c.411G>T (p.Thr137=)
1g.230710440C=CA1147004772AGTc.384G= (p.Thr128=)
n.895G=
c.411G= (p.Thr137=)
1g.230710440C>GCA1448307AGTc.384G>C (p.Thr128=)
n.895G>C
c.411G>C (p.Thr137=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710440C>TCA1448308AGTc.384G>A (p.Thr128=)
n.895G>A
c.411G>A (p.Thr137=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710441G>ACA1448309AGTc.383C>T (p.Thr128Met)
n.894C>T
c.410C>T (p.Thr137Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710441G>CCA345206754AGTc.383C>G (p.Thr128Arg)
n.894C>G
c.410C>G (p.Thr137Arg)
dbSNP gnomAD v2 gnomAD v4
1g.230710441G=CA1140540383AGTc.383C= (p.Thr128=)
n.894C=
c.410C= (p.Thr137=)
1g.230710441G>TCA345206755AGTc.383C>A (p.Thr128Lys)
n.894C>A
c.410C>A (p.Thr137Lys)
1g.230710442T>ACA345206756AGTc.382A>T (p.Thr128Ser)
n.893A>T
c.409A>T (p.Thr137Ser)
1g.230710442T>CCA1448310AGTc.382A>G (p.Thr128Ala)
n.893A>G
c.409A>G (p.Thr137Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710442T>GCA345206757AGTc.382A>C (p.Thr128Pro)
n.893A>C
c.409A>C (p.Thr137Pro)
1g.230710442T=CA1141611965AGTc.382A= (p.Thr128=)
n.893A=
c.409A= (p.Thr137=)
1g.230710443T>ACA424036863AGTc.381A>T (p.Pro127=)
n.892A>T
c.408A>T (p.Pro136=)
1g.230710443T>CCA424036866AGTc.381A>G (p.Pro127=)
n.892A>G
c.408A>G (p.Pro136=)
1g.230710443T>GCA424036864AGTc.381A>C (p.Pro127=)
n.892A>C
c.408A>C (p.Pro136=)
1g.230710444G>ACA345206758AGTc.380C>T (p.Pro127Leu)
n.891C>T
c.407C>T (p.Pro136Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710444G>CCA345206759AGTc.380C>G (p.Pro127Arg)
n.891C>G
c.407C>G (p.Pro136Arg)
1g.230710444G=CA1226669740AGTc.380C= (p.Pro127=)
n.891C=
c.407C= (p.Pro136=)
1g.230710444G>TCA345206760AGTc.380C>A (p.Pro127Gln)
n.891C>A
c.407C>A (p.Pro136Gln)
1g.230710445G>ACA345206763AGTc.379C>T (p.Pro127Ser)
n.890C>T
c.406C>T (p.Pro136Ser)
dbSNP gnomAD v3 gnomAD v4
1g.230710445G>CCA345206762AGTc.379C>G (p.Pro127Ala)
n.890C>G
c.406C>G (p.Pro136Ala)
1g.230710445G=CA1226669741AGTc.379C= (p.Pro127=)
n.890C=
c.406C= (p.Pro136=)
1g.230710445G>TCA345206761AGTc.379C>A (p.Pro127Thr)
n.890C>A
c.406C>A (p.Pro136Thr)
1g.230710446G>ACA424036870AGTc.378C>T (p.Ser126=)
n.889C>T
c.405C>T (p.Ser135=)
1g.230710446G>CCA424036871AGTc.378C>G (p.Ser126=)
n.889C>G
c.405C>G (p.Ser135=)
gnomAD v4
1g.230710446G=CA1140265665AGTc.378C= (p.Ser126=)
n.889C=
c.405C= (p.Ser135=)
1g.230710446G>TCA38871869AGTc.378C>A (p.Ser126=)
n.889C>A
c.405C>A (p.Ser135=)
dbSNP
1g.230710447G>ACA345206764AGTc.377C>T (p.Ser126Phe)
n.888C>T
c.404C>T (p.Ser135Phe)
1g.230710447G>CCA345206765AGTc.377C>G (p.Ser126Cys)
n.888C>G
c.404C>G (p.Ser135Cys)
1g.230710447G>TCA345206766AGTc.377C>A (p.Ser126Tyr)
n.888C>A
c.404C>A (p.Ser135Tyr)
1g.230710448A>CCA345206767AGTc.376T>G (p.Ser126Ala)
n.887T>G
c.403T>G (p.Ser135Ala)
1g.230710448A>GCA345206768AGTc.376T>C (p.Ser126Pro)
n.887T>C
c.403T>C (p.Ser135Pro)
gnomAD v4
1g.230710448A>TCA345206769AGTc.376T>A (p.Ser126Thr)
n.887T>A
c.403T>A (p.Ser135Thr)
1g.230710449G>ACA38871874AGTc.375C>T (p.Leu125=)
n.886C>T
c.402C>T (p.Leu134=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710449G>CCA424036875AGTc.375C>G (p.Leu125=)
n.886C>G
c.402C>G (p.Leu134=)
1g.230710449G=CA1140265666AGTc.375C= (p.Leu125=)
n.886C=
c.402C= (p.Leu134=)
1g.230710449G>TCA424036876AGTc.375C>A (p.Leu125=)
n.886C>A
c.402C>A (p.Leu134=)
1g.230710450A=CA1226669742AGTc.374T= (p.Leu125=)
n.885T=
c.401T= (p.Leu134=)
1g.230710450A>CCA345206770AGTc.374T>G (p.Leu125Arg)
n.885T>G
c.401T>G (p.Leu134Arg)
1g.230710450A>GCA345206771AGTc.374T>C (p.Leu125Pro)
n.885T>C
c.401T>C (p.Leu134Pro)
ClinVar dbSNP gnomAD v4
1g.230710450A>TCA345206772AGTc.374T>A (p.Leu125His)
n.885T>A
c.401T>A (p.Leu134His)
1g.230710451G>ACA38871888AGTc.373C>T (p.Leu125Phe)
n.884C>T
c.400C>T (p.Leu134Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710451G>CCA345206773AGTc.373C>G (p.Leu125Val)
n.884C>G
c.400C>G (p.Leu134Val)
dbSNP
1g.230710451G=CA1144100458AGTc.373C= (p.Leu125=)
n.884C=
c.400C= (p.Leu134=)
1g.230710451G>TCA345206774AGTc.373C>A (p.Leu125Ile)
n.884C>A
c.400C>A (p.Leu134Ile)
1g.230710452G>ACA424036881AGTc.372C>T (p.Val124=)
n.883C>T
c.399C>T (p.Val133=)
1g.230710452G>CCA424036882AGTc.372C>G (p.Val124=)
n.883C>G
c.399C>G (p.Val133=)
1g.230710452G=CA1226669744AGTc.372C= (p.Val124=)
n.883C=
c.399C= (p.Val133=)
1g.230710452G>TCA1448311AGTc.372C>A (p.Val124=)
n.883C>A
c.399C>A (p.Val133=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710452_230710453delinsGACA1226669743AGTc.371_372delinsTC (p.Val124=)
n.882_883delinsTC
c.398_399delinsTC (p.Val133=)
1g.230710453delCA1226669745AGTc.371del (p.Val124AlafsTer?)
n.882del
c.398del (p.Val133AlafsTer?)
dbSNP gnomAD v4
1g.230710453A>CCA345206775AGTc.371T>G (p.Val124Gly)
n.882T>G
c.398T>G (p.Val133Gly)
1g.230710453A>GCA345206776AGTc.371T>C (p.Val124Ala)
n.882T>C
c.398T>C (p.Val133Ala)
1g.230710453A>TCA345206777AGTc.371T>A (p.Val124Asp)
n.882T>A
c.398T>A (p.Val133Asp)
1g.230710454C>ACA345206778AGTc.370G>T (p.Val124Phe)
n.881G>T
c.397G>T (p.Val133Phe)
1g.230710454C=CA1146679595AGTc.370G= (p.Val124=)
n.881G=
c.397G= (p.Val133=)
1g.230710454C>GCA345206779AGTc.370G>C (p.Val124Leu)
n.881G>C
c.397G>C (p.Val133Leu)
1g.230710454C>TCA1448312AGTc.370G>A (p.Val124Ile)
n.881G>A
c.397G>A (p.Val133Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710455G>ACA1448313AGTc.369C>T (p.Thr123=)
n.880C>T
c.396C>T (p.Thr132=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710455G>CCA424036888AGTc.369C>G (p.Thr123=)
n.880C>G
c.396C>G (p.Thr132=)
dbSNP gnomAD v4
1g.230710455G=CA1143466367AGTc.369C= (p.Thr123=)
n.880C=
c.396C= (p.Thr132=)
1g.230710455G>TCA424036887AGTc.369C>A (p.Thr123=)
n.880C>A
c.396C>A (p.Thr132=)
COSMIC
1g.230710456G>ACA345206780AGTc.368C>T (p.Thr123Ile)
n.879C>T
c.395C>T (p.Thr132Ile)
gnomAD v4
1g.230710456G>CCA345206781AGTc.368C>G (p.Thr123Ser)
n.879C>G
c.395C>G (p.Thr132Ser)
gnomAD v4
1g.230710456G>TCA345206782AGTc.368C>A (p.Thr123Asn)
n.879C>A
c.395C>A (p.Thr132Asn)
gnomAD v4
1g.230710457T>ACA345206783AGTc.367A>T (p.Thr123Ser)
n.878A>T
c.394A>T (p.Thr132Ser)
1g.230710457T>CCA345206784AGTc.367A>G (p.Thr123Ala)
n.878A>G
c.394A>G (p.Thr132Ala)
1g.230710457T>GCA345206785AGTc.367A>C (p.Thr123Pro)
n.878A>C
c.394A>C (p.Thr132Pro)
dbSNP
1g.230710457T=CA1226669746AGTc.367A= (p.Thr123=)
n.878A=
c.394A= (p.Thr132=)
1g.230710458G>ACA424036894AGTc.366C>T (p.Ala122=)
n.877C>T
c.393C>T (p.Ala131=)
dbSNP gnomAD v3 gnomAD v4
1g.230710458G>CCA424036896AGTc.366C>G (p.Ala122=)
n.877C>G
c.393C>G (p.Ala131=)
1g.230710458G=CA1226669747AGTc.366C= (p.Ala122=)
n.877C=
c.393C= (p.Ala131=)
1g.230710458G>TCA424036895AGTc.366C>A (p.Ala122=)
n.877C>A
c.393C>A (p.Ala131=)
1g.230710459G>ACA345206786AGTc.365C>T (p.Ala122Val)
n.876C>T
c.392C>T (p.Ala131Val)
1g.230710459G>CCA345206788AGTc.365C>G (p.Ala122Gly)
n.876C>G
c.392C>G (p.Ala131Gly)
1g.230710459G=CA1226669748AGTc.365C= (p.Ala122=)
n.876C=
c.392C= (p.Ala131=)
1g.230710459G>TCA345206787AGTc.365C>A (p.Ala122Asp)
n.876C>A
c.392C>A (p.Ala131Asp)
dbSNP gnomAD v3 gnomAD v4
1g.230710460C>ACA345206789AGTc.364G>T (p.Ala122Ser)
n.875G>T
c.391G>T (p.Ala131Ser)
1g.230710460C=CA1226669749AGTc.364G= (p.Ala122=)
n.875G=
c.391G= (p.Ala131=)
1g.230710460C>GCA345206790AGTc.364G>C (p.Ala122Pro)
n.875G>C
c.391G>C (p.Ala131Pro)
1g.230710460C>TCA1448314AGTc.364G>A (p.Ala122Thr)
n.875G>A
c.391G>A (p.Ala131Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710463delCA2650971415AGTc.364del (p.Ala122ProfsTer?)
n.875del
c.391del (p.Ala131ProfsTer?)
gnomAD v4
1g.230710461C>ACA424036902AGTc.363G>T (p.Gly121=)
n.874G>T
c.390G>T (p.Gly130=)
COSMIC
1g.230710461C=CA1226669750AGTc.363G= (p.Gly121=)
n.874G=
c.390G= (p.Gly130=)
1g.230710461C>GCA424036904AGTc.363G>C (p.Gly121=)
n.874G>C
c.390G>C (p.Gly130=)
1g.230710461C>TCA1448315AGTc.363G>A (p.Gly121=)
n.874G>A
c.390G>A (p.Gly130=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710462C>ACA345206792AGTc.362G>T (p.Gly121Val)
n.873G>T
c.389G>T (p.Gly130Val)
1g.230710462C>GCA345206791AGTc.362G>C (p.Gly121Ala)
n.873G>C
c.389G>C (p.Gly130Ala)
1g.230710462C>TCA345206793AGTc.362G>A (p.Gly121Glu)
n.873G>A
c.389G>A (p.Gly130Glu)
1g.230710463C>ACA345206794AGTc.361G>T (p.Gly121Trp)
n.872G>T
c.388G>T (p.Gly130Trp)
dbSNP gnomAD v3 gnomAD v4
1g.230710463C=CA1226669751AGTc.361G= (p.Gly121=)
n.872G=
c.388G= (p.Gly130=)
1g.230710463C>GCA345206795AGTc.361G>C (p.Gly121Arg)
n.872G>C
c.388G>C (p.Gly130Arg)
1g.230710463C>TCA345206796AGTc.361G>A (p.Gly121Arg)
n.872G>A
c.388G>A (p.Gly130Arg)
1g.230710464A>CCA345206797AGTc.360T>G (p.His120Gln)
n.871T>G
c.387T>G (p.His129Gln)
gnomAD v4
1g.230710464A>GCA424036909AGTc.360T>C (p.His120=)
n.871T>C
c.387T>C (p.His129=)
gnomAD v4
1g.230710464A>TCA345206798AGTc.360T>A (p.His120Gln)
n.871T>A
c.387T>A (p.His129Gln)
1g.230710465T>ACA345206799AGTc.359A>T (p.His120Leu)
n.870A>T
c.386A>T (p.His129Leu)
gnomAD v4
1g.230710465T>CCA1448316AGTc.359A>G (p.His120Arg)
n.870A>G
c.386A>G (p.His129Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710465T>GCA345206800AGTc.359A>C (p.His120Pro)
n.870A>C
c.386A>C (p.His129Pro)
dbSNP gnomAD v4
1g.230710465T=CA1226669752AGTc.359A= (p.His120=)
n.870A=
c.386A= (p.His129=)
1g.230710466G>ACA38871904AGTc.358C>T (p.His120Tyr)
n.869C>T
c.385C>T (p.His129Tyr)
dbSNP
1g.230710466G>CCA345206801AGTc.358C>G (p.His120Asp)
n.869C>G
c.385C>G (p.His129Asp)
1g.230710466G=CA1226669753AGTc.358C= (p.His120=)
n.869C=
c.385C= (p.His129=)
1g.230710466G>TCA345206802AGTc.358C>A (p.His120Asn)
n.869C>A
c.385C>A (p.His129Asn)
1g.230710467G>ACA424036918AGTc.357C>T (p.Val119=)
n.868C>T
c.384C>T (p.Val128=)
gnomAD v3 gnomAD v4
1g.230710467G>CCA424036919AGTc.357C>G (p.Val119=)
n.868C>G
c.384C>G (p.Val128=)
1g.230710467G>TCA424036917AGTc.357C>A (p.Val119=)
n.868C>A
c.384C>A (p.Val128=)
1g.230710468A>CCA345206805AGTc.356T>G (p.Val119Gly)
n.867T>G
c.383T>G (p.Val128Gly)
1g.230710468A>GCA345206803AGTc.356T>C (p.Val119Ala)
n.867T>C
c.383T>C (p.Val128Ala)
gnomAD v4
1g.230710468A>TCA345206804AGTc.356T>A (p.Val119Asp)
n.867T>A
c.383T>A (p.Val128Asp)
1g.230710469C>ACA345206806AGTc.355G>T (p.Val119Phe)
n.866G>T
c.382G>T (p.Val128Phe)
1g.230710469C=CA1226669754AGTc.355G= (p.Val119=)
n.866G=
c.382G= (p.Val128=)
1g.230710469C>GCA345206807AGTc.355G>C (p.Val119Leu)
n.866G>C
c.382G>C (p.Val128Leu)
dbSNP gnomAD v3 gnomAD v4
1g.230710469C>TCA1448317AGTc.355G>A (p.Val119Ile)
n.866G>A
c.382G>A (p.Val128Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710470C>ACA424036929AGTc.354G>T (p.Val118=)
n.865G>T
c.381G>T (p.Val127=)
1g.230710470C>GCA424036931AGTc.354G>C (p.Val118=)
n.865G>C
c.381G>C (p.Val127=)
1g.230710470C>TCA424036934AGTc.354G>A (p.Val118=)
n.865G>A
c.381G>A (p.Val127=)
gnomAD v4
1g.230710471A>CCA345206808AGTc.353T>G (p.Val118Gly)
n.864T>G
c.380T>G (p.Val127Gly)
1g.230710471A>GCA345206809AGTc.353T>C (p.Val118Ala)
n.864T>C
c.380T>C (p.Val127Ala)
1g.230710471A>TCA345206810AGTc.353T>A (p.Val118Glu)
n.864T>A
c.380T>A (p.Val127Glu)
1g.230710472C>ACA345206811AGTc.352G>T (p.Val118Leu)
n.863G>T
c.379G>T (p.Val127Leu)
1g.230710472C=CA1143662793AGTc.352G= (p.Val118=)
n.863G=
c.379G= (p.Val127=)
1g.230710472C>GCA345206812AGTc.352G>C (p.Val118Leu)
n.863G>C
c.379G>C (p.Val127Leu)
dbSNP gnomAD v3 gnomAD v4
1g.230710472C>TCA1448318AGTc.352G>A (p.Val118Met)
n.863G>A
c.379G>A (p.Val127Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710473G>ACA1448319AGTc.351C>T (p.Gly117=)
n.862C>T
c.378C>T (p.Gly126=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710473G>CCA424036940AGTc.351C>G (p.Gly117=)
n.862C>G
c.378C>G (p.Gly126=)
1g.230710473G=CA1141916572AGTc.351C= (p.Gly117=)
n.862C=
c.378C= (p.Gly126=)
1g.230710473G>TCA424036941AGTc.351C>A (p.Gly117=)
n.862C>A
c.378C>A (p.Gly126=)
1g.230710473_230710474delinsGCCA1226669755AGTc.350_351delinsGC (p.Gly117=)
n.861_862delinsGC
c.377_378delinsGC (p.Gly126=)
1g.230710474C>ACA345206814AGTc.350G>T (p.Gly117Val)
n.861G>T
c.377G>T (p.Gly126Val)
gnomAD v4
1g.230710474C>GCA345206815AGTc.350G>C (p.Gly117Ala)
n.861G>C
c.377G>C (p.Gly126Ala)
1g.230710474C>TCA345206813AGTc.350G>A (p.Gly117Asp)
n.861G>A
c.377G>A (p.Gly126Asp)
1g.230710477delCA38871920AGTc.350del (p.Gly117AlafsTer?)
n.861del
c.377del (p.Gly126AlafsTer?)
dbSNP
1g.230710475C>ACA345206816AGTc.349G>T (p.Gly117Cys)
n.860G>T
c.376G>T (p.Gly126Cys)
1g.230710475C=CA1226669756AGTc.349G= (p.Gly117=)
n.860G=
c.376G= (p.Gly126=)
1g.230710475C>GCA345206817AGTc.349G>C (p.Gly117Arg)
n.860G>C
c.376G>C (p.Gly126Arg)
1g.230710475C>TCA38871924AGTc.349G>A (p.Gly117Ser)
n.860G>A
c.376G>A (p.Gly126Ser)
dbSNP
1g.230710476C>ACA345206818AGTc.348G>T (p.Trp116Cys)
n.859G>T
c.375G>T (p.Trp125Cys)
1g.230710476C>GCA345206819AGTc.348G>C (p.Trp116Cys)
n.859G>C
c.375G>C (p.Trp125Cys)
1g.230710476C>TCA345206820AGTc.348G>A (p.Trp116Ter)
n.859G>A
c.375G>A (p.Trp125Ter)
1g.230710477C>ACA345206821AGTc.347G>T (p.Trp116Leu)
n.858G>T
c.374G>T (p.Trp125Leu)
1g.230710477C>GCA345206822AGTc.347G>C (p.Trp116Ser)
n.858G>C
c.374G>C (p.Trp125Ser)
1g.230710477C>TCA345206823AGTc.347G>A (p.Trp116Ter)
n.858G>A
c.374G>A (p.Trp125Ter)
1g.230710478A>CCA345206824AGTc.346T>G (p.Trp116Gly)
n.857T>G
c.373T>G (p.Trp125Gly)
1g.230710478A>GCA345206825AGTc.346T>C (p.Trp116Arg)
n.857T>C
c.373T>C (p.Trp125Arg)
gnomAD v4
1g.230710478A>TCA345206826AGTc.346T>A (p.Trp116Arg)
n.857T>A
c.373T>A (p.Trp125Arg)
1g.230710479T>ACA424036951AGTc.345A>T (p.Leu115=)
n.856A>T
c.372A>T (p.Leu124=)
1g.230710479T>CCA424036952AGTc.345A>G (p.Leu115=)
n.856A>G
c.372A>G (p.Leu124=)
1g.230710479T>GCA424036954AGTc.345A>C (p.Leu115=)
n.856A>C
c.372A>C (p.Leu124=)
1g.230710480A>CCA345206829AGTc.344T>G (p.Leu115Arg)
n.855T>G
c.371T>G (p.Leu124Arg)
1g.230710480A>GCA345206827AGTc.344T>C (p.Leu115Pro)
n.855T>C
c.371T>C (p.Leu124Pro)
1g.230710480A>TCA345206828AGTc.344T>A (p.Leu115Gln)
n.855T>A
c.371T>A (p.Leu124Gln)
1g.230710481G>ACA424036957AGTc.343C>T (p.Leu115=)
n.854C>T
c.370C>T (p.Leu124=)
1g.230710481G>CCA345206830AGTc.343C>G (p.Leu115Val)
n.854C>G
c.370C>G (p.Leu124Val)
1g.230710481G>TCA345206831AGTc.343C>A (p.Leu115Ile)
n.854C>A
c.370C>A (p.Leu124Ile)
1g.230710482C>ACA345206832AGTc.342G>T (p.Glu114Asp)
n.853G>T
c.369G>T (p.Glu123Asp)
dbSNP
1g.230710482C=CA1226669757AGTc.342G= (p.Glu114=)
n.853G=
c.369G= (p.Glu123=)
1g.230710482C>GCA345206833AGTc.342G>C (p.Glu114Asp)
n.853G>C
c.369G>C (p.Glu123Asp)
dbSNP gnomAD v2
1g.230710482C>TCA424036958AGTc.342G>A (p.Glu114=)
n.853G>A
c.369G>A (p.Glu123=)
1g.230710483T>ACA345206834AGTc.341A>T (p.Glu114Val)
n.852A>T
c.368A>T (p.Glu123Val)
1g.230710483T>CCA345206835AGTc.341A>G (p.Glu114Gly)
n.852A>G
c.368A>G (p.Glu123Gly)
1g.230710483T>GCA345206836AGTc.341A>C (p.Glu114Ala)
n.852A>C
c.368A>C (p.Glu123Ala)
1g.230710484C>ACA345206837AGTc.340G>T (p.Glu114Ter)
n.851G>T
c.367G>T (p.Glu123Ter)
1g.230710484C=CA1142290066AGTc.340G= (p.Glu114=)
n.851G=
c.367G= (p.Glu123=)
1g.230710484C>GCA345206838AGTc.340G>C (p.Glu114Gln)
n.851G>C
c.367G>C (p.Glu123Gln)
1g.230710484C>TCA38871936AGTc.340G>A (p.Glu114Lys)
n.851G>A
c.367G>A (p.Glu123Lys)
dbSNP gnomAD v3 gnomAD v4
1g.230710485A>CCA345206839AGTc.339T>G (p.Ser113Arg)
n.850T>G
c.366T>G (p.Ser122Arg)
1g.230710485A>GCA424036964AGTc.339T>C (p.Ser113=)
n.850T>C
c.366T>C (p.Ser122=)
1g.230710485A>TCA345206840AGTc.339T>A (p.Ser113Arg)
n.850T>A
c.366T>A (p.Ser122Arg)
1g.230710486C>ACA345206841AGTc.338G>T (p.Ser113Ile)
n.849G>T
c.365G>T (p.Ser122Ile)
gnomAD v4
1g.230710486C=CA1226669758AGTc.338G= (p.Ser113=)
n.849G=
c.365G= (p.Ser122=)
1g.230710486C>GCA345206842AGTc.338G>C (p.Ser113Thr)
n.849G>C
c.365G>C (p.Ser122Thr)
1g.230710486C>TCA1448320AGTc.338G>A (p.Ser113Asn)
n.849G>A
c.365G>A (p.Ser122Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710487T>ACA345206843AGTc.337A>T (p.Ser113Cys)
n.848A>T
c.364A>T (p.Ser122Cys)
1g.230710487T>CCA345206844AGTc.337A>G (p.Ser113Gly)
n.848A>G
c.364A>G (p.Ser122Gly)
dbSNP gnomAD v2 gnomAD v4
1g.230710487T>GCA345206845AGTc.337A>C (p.Ser113Arg)
n.848A>C
c.364A>C (p.Ser122Arg)
1g.230710487T=CA1226669759AGTc.337A= (p.Ser113=)
n.848A=
c.364A= (p.Ser122=)
1g.230710488G>ACA38871946AGTc.336C>T (p.His112=)
n.847C>T
c.363C>T (p.His121=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710488G>CCA345206846AGTc.336C>G (p.His112Gln)
n.847C>G
c.363C>G (p.His121Gln)
dbSNP gnomAD v3 gnomAD v4
1g.230710488G=CA1148433653AGTc.336C= (p.His112=)
n.847C=
c.363C= (p.His121=)
1g.230710488G>TCA345206847AGTc.336C>A (p.His112Gln)
n.847C>A
c.363C>A (p.His121Gln)
1g.230710489T>ACA345206848AGTc.335A>T (p.His112Leu)
n.846A>T
c.362A>T (p.His121Leu)
COSMIC
1g.230710489T>CCA345206849AGTc.335A>G (p.His112Arg)
n.846A>G
c.362A>G (p.His121Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710489T>GCA345206850AGTc.335A>C (p.His112Pro)
n.846A>C
c.362A>C (p.His121Pro)
1g.230710489T=CA1226669760AGTc.335A= (p.His112=)
n.846A=
c.362A= (p.His121=)
1g.230710490G>ACA345206851AGTc.334C>T (p.His112Tyr)
n.845C>T
c.361C>T (p.His121Tyr)
1g.230710490G>CCA345206852AGTc.334C>G (p.His112Asp)
n.845C>G
c.361C>G (p.His121Asp)
1g.230710490G>TCA345206853AGTc.334C>A (p.His112Asn)
n.845C>A
c.361C>A (p.His121Asn)
1g.230710491C>ACA345206856AGTc.333G>T (p.Met111Ile)
n.844G>T
c.360G>T (p.Met120Ile)
1g.230710491C>GCA345206855AGTc.333G>C (p.Met111Ile)
n.844G>C
c.360G>C (p.Met120Ile)
1g.230710491C>TCA345206854AGTc.333G>A (p.Met111Ile)
n.844G>A
c.360G>A (p.Met120Ile)
1g.230710492A=CA1226669761AGTc.332T= (p.Met111=)
n.843T=
c.359T= (p.Met120=)
1g.230710492A>CCA345206857AGTc.332T>G (p.Met111Arg)
n.843T>G
c.359T>G (p.Met120Arg)
gnomAD v4
1g.230710492A>GCA345206858AGTc.332T>C (p.Met111Thr)
n.843T>C
c.359T>C (p.Met120Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.230710492A>TCA345206859AGTc.332T>A (p.Met111Lys)
n.843T>A
c.359T>A (p.Met120Lys)
1g.230710493T>ACA1448321AGTc.331A>T (p.Met111Leu)
n.842A>T
c.358A>T (p.Met120Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710493T>CCA345206860AGTc.331A>G (p.Met111Val)
n.842A>G
c.358A>G (p.Met120Val)
gnomAD v4
1g.230710493T>GCA345206861AGTc.331A>C (p.Met111Leu)
n.842A>C
c.358A>C (p.Met120Leu)
1g.230710493T=CA1148299232AGTc.331A= (p.Met111=)
n.842A=
c.358A= (p.Met120=)
1g.230710494G>ACA424036986AGTc.330C>T (p.Gly110=)
n.841C>T
c.357C>T (p.Gly119=)
gnomAD v4
1g.230710494G>CCA424036987AGTc.330C>G (p.Gly110=)
n.841C>G
c.357C>G (p.Gly119=)
1g.230710494G>TCA424036988AGTc.330C>A (p.Gly110=)
n.841C>A
c.357C>A (p.Gly119=)
COSMIC
1g.230710495C>ACA345206862AGTc.329G>T (p.Gly110Val)
n.840G>T
c.356G>T (p.Gly119Val)
gnomAD v4
1g.230710495C>GCA345206863AGTc.329G>C (p.Gly110Ala)
n.840G>C
c.356G>C (p.Gly119Ala)
gnomAD v4
1g.230710495C>TCA345206864AGTc.329G>A (p.Gly110Asp)
n.840G>A
c.356G>A (p.Gly119Asp)
1g.230710496C>ACA345206865AGTc.328G>T (p.Gly110Cys)
n.839G>T
c.355G>T (p.Gly119Cys)
1g.230710496C>GCA345206866AGTc.328G>C (p.Gly110Arg)
n.839G>C
c.355G>C (p.Gly119Arg)
1g.230710496C>TCA345206867AGTc.328G>A (p.Gly110Ser)
n.839G>A
c.355G>A (p.Gly119Ser)
1g.230710497A>CCA345206868AGTc.327T>G (p.Tyr109Ter)
n.838T>G
c.354T>G (p.Tyr118Ter)
1g.230710497A>GCA424036992AGTc.327T>C (p.Tyr109=)
n.838T>C
c.354T>C (p.Tyr118=)
1g.230710497A>TCA345206869AGTc.327T>A (p.Tyr109Ter)
n.838T>A
c.354T>A (p.Tyr118Ter)
1g.230710498T>ACA345206871AGTc.326A>T (p.Tyr109Phe)
n.837A>T
c.353A>T (p.Tyr118Phe)
1g.230710498T>CCA345206872AGTc.326A>G (p.Tyr109Cys)
n.837A>G
c.353A>G (p.Tyr118Cys)
1g.230710498T>GCA345206870AGTc.326A>C (p.Tyr109Ser)
n.837A>C
c.353A>C (p.Tyr118Ser)
1g.230710499A=CA1226669762AGTc.325T= (p.Tyr109=)
n.836T=
c.352T= (p.Tyr118=)
1g.230710499A>CCA345206873AGTc.325T>G (p.Tyr109Asp)
n.836T>G
c.352T>G (p.Tyr118Asp)
1g.230710499A>GCA345206874AGTc.325T>C (p.Tyr109His)
n.836T>C
c.352T>C (p.Tyr118His)
dbSNP
1g.230710499A>TCA345206875AGTc.325T>A (p.Tyr109Asn)
n.836T>A
c.352T>A (p.Tyr118Asn)
1g.230710500T>ACA424036999AGTc.324A>T (p.Ile108=)
n.835A>T
c.351A>T (p.Ile117=)
1g.230710500T>CCA345206876AGTc.324A>G (p.Ile108Met)
n.835A>G
c.351A>G (p.Ile117Met)
gnomAD v4 COSMIC
1g.230710500T>GCA424037000AGTc.324A>C (p.Ile108=)
n.835A>C
c.351A>C (p.Ile117=)
1g.230710501A=CA1143380462AGTc.323T= (p.Ile108=)
n.834T=
c.350T= (p.Ile117=)
1g.230710501A>CCA38871950AGTc.323T>G (p.Ile108Arg)
n.834T>G
c.350T>G (p.Ile117Arg)
ClinVar dbSNP gnomAD v4
1g.230710501A>GCA345206877AGTc.323T>C (p.Ile108Thr)
n.834T>C
c.350T>C (p.Ile117Thr)
1g.230710501A>TCA345206878AGTc.323T>A (p.Ile108Lys)
n.834T>A
c.350T>A (p.Ile117Lys)
1g.230710502T>ACA345206879AGTc.322A>T (p.Ile108Leu)
n.833A>T
c.349A>T (p.Ile117Leu)
1g.230710502T>CCA345206880AGTc.322A>G (p.Ile108Val)
n.833A>G
c.349A>G (p.Ile117Val)
gnomAD v4
1g.230710502T>GCA345206881AGTc.322A>C (p.Ile108Leu)
n.833A>C
c.349A>C (p.Ile117Leu)
1g.230710503A>CCA424037005AGTc.321T>G (p.Arg107=)
n.832T>G
c.348T>G (p.Arg116=)
1g.230710503A>GCA424037006AGTc.321T>C (p.Arg107=)
n.832T>C
c.348T>C (p.Arg116=)
1g.230710503A>TCA424037007AGTc.321T>A (p.Arg107=)
n.832T>A
c.348T>A (p.Arg116=)
gnomAD v4
1g.230710504C>ACA1448323AGTc.320G>T (p.Arg107Leu)
n.831G>T
c.347G>T (p.Arg116Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710504C=CA1226669763AGTc.320G= (p.Arg107=)
n.831G=
c.347G= (p.Arg116=)
1g.230710504C>GCA345206882AGTc.320G>C (p.Arg107Pro)
n.831G>C
c.347G>C (p.Arg116Pro)
1g.230710504C>TCA1448322AGTc.320G>A (p.Arg107His)
n.831G>A
c.347G>A (p.Arg116His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710505G>ACA1448324AGTc.319C>T (p.Arg107Cys)
n.830C>T
c.346C>T (p.Arg116Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710505G>CCA345206886AGTc.319C>G (p.Arg107Gly)
n.830C>G
c.346C>G (p.Arg116Gly)
1g.230710505G=CA1142173777AGTc.319C= (p.Arg107=)
n.830C=
c.346C= (p.Arg116=)
1g.230710505G>TCA345206884AGTc.319C>A (p.Arg107Ser)
n.830C>A
c.346C>A (p.Arg116Ser)
gnomAD v4
1g.230710506G>ACA424037011AGTc.318C>T (p.Phe106=)
n.829C>T
c.345C>T (p.Phe115=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710506G>CCA345206887AGTc.318C>G (p.Phe106Leu)
n.829C>G
c.345C>G (p.Phe115Leu)
1g.230710506G=CA1226669764AGTc.318C= (p.Phe106=)
n.829C=
c.345C= (p.Phe115=)
1g.230710506G>TCA345206890AGTc.318C>A (p.Phe106Leu)
n.829C>A
c.345C>A (p.Phe115Leu)
gnomAD v4
1g.230710507A>CCA345206892AGTc.317T>G (p.Phe106Cys)
n.828T>G
c.344T>G (p.Phe115Cys)
1g.230710507A>GCA345206894AGTc.317T>C (p.Phe106Ser)
n.828T>C
c.344T>C (p.Phe115Ser)
1g.230710507A>TCA345206896AGTc.317T>A (p.Phe106Tyr)
n.828T>A
c.344T>A (p.Phe115Tyr)
1g.230710508A>CCA345206898AGTc.316T>G (p.Phe106Val)
n.827T>G
c.343T>G (p.Phe115Val)
1g.230710508A>GCA345206900AGTc.316T>C (p.Phe106Leu)
n.827T>C
c.343T>C (p.Phe115Leu)
1g.230710508A>TCA345206902AGTc.316T>A (p.Phe106Ile)
n.827T>A
c.343T>A (p.Phe115Ile)
1g.230710509G>ACA424037023AGTc.315C>T (p.Gly105=)
n.826C>T
c.342C>T (p.Gly114=)
1g.230710509G>CCA424037021AGTc.315C>G (p.Gly105=)
n.826C>G
c.342C>G (p.Gly114=)
1g.230710509G>TCA424037020AGTc.315C>A (p.Gly105=)
n.826C>A
c.342C>A (p.Gly114=)
1g.230710510C>ACA345206904AGTc.314G>T (p.Gly105Val)
n.825G>T
c.341G>T (p.Gly114Val)
1g.230710510C>GCA345206906AGTc.314G>C (p.Gly105Ala)
n.825G>C
c.341G>C (p.Gly114Ala)
1g.230710510C>TCA345206908AGTc.314G>A (p.Gly105Asp)
n.825G>A
c.341G>A (p.Gly114Asp)
1g.230710511C>ACA1448325AGTc.313G>T (p.Gly105Cys)
n.824G>T
c.340G>T (p.Gly114Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710511C=CA1139922214AGTc.313G= (p.Gly105=)
n.824G=
c.340G= (p.Gly114=)
1g.230710511C>GCA345206913AGTc.313G>C (p.Gly105Arg)
n.824G>C
c.340G>C (p.Gly114Arg)
gnomAD v3 gnomAD v4
1g.230710511C>TCA345206910AGTc.313G>A (p.Gly105Ser)
n.824G>A
c.340G>A (p.Gly114Ser)
1g.230710512C>ACA345206915AGTc.312G>T (p.Leu104Phe)
n.823G>T
c.339G>T (p.Leu113Phe)
1g.230710512C>GCA345206914AGTc.312G>C (p.Leu104Phe)
n.823G>C
c.339G>C (p.Leu113Phe)
1g.230710512C>TCA424037030AGTc.312G>A (p.Leu104=)
n.823G>A
c.339G>A (p.Leu113=)
1g.230710513A=CA1226669765AGTc.311T= (p.Leu104=)
n.822T=
c.338T= (p.Leu113=)
1g.230710513A>CCA38871975AGTc.311T>G (p.Leu104Trp)
n.822T>G
c.338T>G (p.Leu113Trp)
dbSNP
1g.230710513A>GCA345206918AGTc.311T>C (p.Leu104Ser)
n.822T>C
c.338T>C (p.Leu113Ser)
1g.230710513A>TCA345206919AGTc.311T>A (p.Leu104Ter)
n.822T>A
c.338T>A (p.Leu113Ter)
1g.230710514A=CA1143973334AGTc.310T= (p.Leu104=)
n.821T=
c.337T= (p.Leu113=)
1g.230710514A>CCA345206922AGTc.310T>G (p.Leu104Val)
n.821T>G
c.337T>G (p.Leu113Val)
1g.230710514A>GCA1448326AGTc.310T>C (p.Leu104=)
n.821T>C
c.337T>C (p.Leu113=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710514A>TCA345206924AGTc.310T>A (p.Leu104Met)
n.821T>A
c.337T>A (p.Leu113Met)
1g.230710515G>ACA424037039AGTc.309C>T (p.Phe103=)
n.820C>T
c.336C>T (p.Phe112=)
dbSNP
1g.230710515G>CCA345206926AGTc.309C>G (p.Phe103Leu)
n.820C>G
c.336C>G (p.Phe112Leu)
1g.230710515G=CA1226669766AGTc.309C= (p.Phe103=)
n.820C=
c.336C= (p.Phe112=)
1g.230710515G>TCA345206927AGTc.309C>A (p.Phe103Leu)
n.820C>A
c.336C>A (p.Phe112Leu)
1g.230710516A>CCA345206929AGTc.308T>G (p.Phe103Cys)
n.819T>G
c.335T>G (p.Phe112Cys)
1g.230710516A>GCA345206931AGTc.308T>C (p.Phe103Ser)
n.819T>C
c.335T>C (p.Phe112Ser)
1g.230710516A>TCA345206933AGTc.308T>A (p.Phe103Tyr)
n.819T>A
c.335T>A (p.Phe112Tyr)
1g.230710517A>CCA345206936AGTc.307T>G (p.Phe103Val)
n.818T>G
c.334T>G (p.Phe112Val)
1g.230710517A>GCA345206938AGTc.307T>C (p.Phe103Leu)
n.818T>C
c.334T>C (p.Phe112Leu)
1g.230710517A>TCA345206939AGTc.307T>A (p.Phe103Ile)
n.818T>A
c.334T>A (p.Phe112Ile)
1g.230710518G>ACA424037050AGTc.306C>T (p.Asn102=)
n.817C>T
c.333C>T (p.Asn111=)
gnomAD v4
1g.230710518G>CCA345206940AGTc.306C>G (p.Asn102Lys)
n.817C>G
c.333C>G (p.Asn111Lys)
1g.230710518G>TCA345206941AGTc.306C>A (p.Asn102Lys)
n.817C>A
c.333C>A (p.Asn111Lys)
1g.230710519T>ACA345206942AGTc.305A>T (p.Asn102Ile)
n.816A>T
c.332A>T (p.Asn111Ile)
1g.230710519T>CCA345206944AGTc.305A>G (p.Asn102Ser)
n.816A>G
c.332A>G (p.Asn111Ser)
1g.230710519T>GCA345206946AGTc.305A>C (p.Asn102Thr)
n.816A>C
c.332A>C (p.Asn111Thr)
1g.230710520T>ACA345206948AGTc.304A>T (p.Asn102Tyr)
n.815A>T
c.331A>T (p.Asn111Tyr)
1g.230710520T>CCA345206949AGTc.304A>G (p.Asn102Asp)
n.815A>G
c.331A>G (p.Asn111Asp)
1g.230710520T>GCA345206951AGTc.304A>C (p.Asn102His)
n.815A>C
c.331A>C (p.Asn111His)
1g.230710521G>ACA1448327AGTc.303C>T (p.Ala101=)
n.814C>T
c.330C>T (p.Ala110=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710521G>CCA424037060AGTc.303C>G (p.Ala101=)
n.814C>G
c.330C>G (p.Ala110=)
1g.230710521G=CA1139772893AGTc.303C= (p.Ala101=)
n.814C=
c.330C= (p.Ala110=)
1g.230710521G>TCA424037061AGTc.303C>A (p.Ala101=)
n.814C>A
c.330C>A (p.Ala110=)
dbSNP gnomAD v2
1g.230710522G>ACA38871981AGTc.302C>T (p.Ala101Val)
n.813C>T
c.329C>T (p.Ala110Val)
dbSNP
1g.230710522G>CCA345206956AGTc.302C>G (p.Ala101Gly)
n.813C>G
c.329C>G (p.Ala110Gly)
1g.230710522G=CA1140265667AGTc.302C= (p.Ala101=)
n.813C=
c.329C= (p.Ala110=)
1g.230710522G>TCA345206958AGTc.302C>A (p.Ala101Asp)
n.813C>A
c.329C>A (p.Ala110Asp)
gnomAD v4
1g.230710523C>ACA345206960AGTc.301G>T (p.Ala101Ser)
n.812G>T
c.328G>T (p.Ala110Ser)
1g.230710523C>GCA345206962AGTc.301G>C (p.Ala101Pro)
n.812G>C
c.328G>C (p.Ala110Pro)
1g.230710523C>TCA345206964AGTc.301G>A (p.Ala101Thr)
n.812G>A
c.328G>A (p.Ala110Thr)
1g.230710524C>ACA424037073AGTc.300G>T (p.Leu100=)
n.811G>T
c.327G>T (p.Leu109=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710524C=CA1226669767AGTc.300G= (p.Leu100=)
n.811G=
c.327G= (p.Leu109=)
1g.230710524C>GCA424037074AGTc.300G>C (p.Leu100=)
n.811G>C
c.327G>C (p.Leu109=)
1g.230710524C>TCA10609278AGTc.300G>A (p.Leu100=)
n.811G>A
c.327G>A (p.Leu109=)
ClinVar dbSNP
1g.230710525A>CCA345206968AGTc.299T>G (p.Leu100Arg)
n.810T>G
c.326T>G (p.Leu109Arg)
1g.230710525A>GCA345206965AGTc.299T>C (p.Leu100Pro)
n.810T>C
c.326T>C (p.Leu109Pro)
1g.230710525A>TCA345206967AGTc.299T>A (p.Leu100Gln)
n.810T>A
c.326T>A (p.Leu109Gln)
1g.230710526G>ACA424037082AGTc.298C>T (p.Leu100=)
n.809C>T
c.325C>T (p.Leu109=)
1g.230710526G>CCA345206971AGTc.298C>G (p.Leu100Val)
n.809C>G
c.325C>G (p.Leu109Val)
1g.230710526G>TCA345206973AGTc.298C>A (p.Leu100Met)
n.809C>A
c.325C>A (p.Leu109Met)
1g.230710527C>ACA345206975AGTc.297G>T (p.Met99Ile)
n.808G>T
c.324G>T (p.Met108Ile)
1g.230710527C=CA1226669768AGTc.297G= (p.Met99=)
n.808G=
c.324G= (p.Met108=)
1g.230710527C>GCA345206977AGTc.297G>C (p.Met99Ile)
n.808G>C
c.324G>C (p.Met108Ile)
1g.230710527C>TCA345206978AGTc.297G>A (p.Met99Ile)
n.808G>A
c.324G>A (p.Met108Ile)
dbSNP gnomAD v4
1g.230710528A>CCA345206980AGTc.296T>G (p.Met99Arg)
n.807T>G
c.323T>G (p.Met108Arg)
1g.230710528A>GCA345206982AGTc.296T>C (p.Met99Thr)
n.807T>C
c.323T>C (p.Met108Thr)
COSMIC
1g.230710528A>TCA345206984AGTc.296T>A (p.Met99Lys)
n.807T>A
c.323T>A (p.Met108Lys)
1g.230710529T>ACA345206985AGTc.295A>T (p.Met99Leu)
n.806A>T
c.322A>T (p.Met108Leu)
gnomAD v4
1g.230710529T>CCA345206987AGTc.295A>G (p.Met99Val)
n.806A>G
c.322A>G (p.Met108Val)
1g.230710529T>GCA345206989AGTc.295A>C (p.Met99Leu)
n.806A>C
c.322A>C (p.Met108Leu)
1g.230710530C>ACA424036549AGTc.294G>T (p.Gly98=)
n.805G>T
c.321G>T (p.Gly107=)
1g.230710530C=CA1226669769AGTc.294G= (p.Gly98=)
n.805G=
c.321G= (p.Gly107=)
1g.230710530C>GCA424036551AGTc.294G>C (p.Gly98=)
n.805G>C
c.321G>C (p.Gly107=)
dbSNP
1g.230710530C>TCA424036554AGTc.294G>A (p.Gly98=)
n.805G>A
c.321G>A (p.Gly107=)
dbSNP gnomAD v3 gnomAD v4
1g.230710531C>ACA345206994AGTc.293G>T (p.Gly98Val)
n.804G>T
c.320G>T (p.Gly107Val)
1g.230710531C>GCA345206995AGTc.293G>C (p.Gly98Ala)
n.804G>C
c.320G>C (p.Gly107Ala)
1g.230710531C>TCA345206992AGTc.293G>A (p.Gly98Glu)
n.804G>A
c.320G>A (p.Gly107Glu)
1g.230710532C>ACA345206997AGTc.292G>T (p.Gly98Trp)
n.803G>T
c.319G>T (p.Gly107Trp)
gnomAD v4
1g.230710532C=CA1226669770AGTc.292G= (p.Gly98=)
n.803G=
c.319G= (p.Gly107=)
1g.230710532C>GCA345206999AGTc.292G>C (p.Gly98Arg)
n.803G>C
c.319G>C (p.Gly107Arg)
dbSNP gnomAD v4
1g.230710532C>TCA1448328AGTc.292G>A (p.Gly98Arg)
n.803G>A
c.319G>A (p.Gly107Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710533G>ACA1448329AGTc.291C>T (p.Val97=)
n.802C>T
c.318C>T (p.Val106=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710533G>CCA424036557AGTc.291C>G (p.Val97=)
n.802C>G
c.318C>G (p.Val106=)
dbSNP gnomAD v2 gnomAD v4
1g.230710533G=CA1226669771AGTc.291C= (p.Val97=)
n.802C=
c.318C= (p.Val106=)
1g.230710533G>TCA424036559AGTc.291C>A (p.Val97=)
n.802C>A
c.318C>A (p.Val106=)
1g.230710534A=CA1226669772AGTc.290T= (p.Val97=)
n.801T=
c.317T= (p.Val106=)
1g.230710534A>CCA345207010AGTc.290T>G (p.Val97Gly)
n.801T>G
c.317T>G (p.Val106Gly)
1g.230710534A>GCA1448330AGTc.290T>C (p.Val97Ala)
n.801T>C
c.317T>C (p.Val106Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710534A>TCA345207007AGTc.290T>A (p.Val97Asp)
n.801T>A
c.317T>A (p.Val106Asp)
1g.230710535C>ACA345207012AGTc.289G>T (p.Val97Phe)
n.800G>T
c.316G>T (p.Val106Phe)
1g.230710535C>GCA345207013AGTc.289G>C (p.Val97Leu)
n.800G>C
c.316G>C (p.Val106Leu)
gnomAD v4
1g.230710535C>TCA345207014AGTc.289G>A (p.Val97Ile)
n.800G>A
c.316G>A (p.Val106Ile)
1g.230710536C>ACA345207016AGTc.288G>T (p.Met96Ile)
n.799G>T
c.315G>T (p.Met105Ile)
1g.230710536C>GCA345207018AGTc.288G>C (p.Met96Ile)
n.799G>C
c.315G>C (p.Met105Ile)
1g.230710536C>TCA345207019AGTc.288G>A (p.Met96Ile)
n.799G>A
c.315G>A (p.Met105Ile)
1g.230710537A=CA1226669773AGTc.287T= (p.Met96=)
n.798T=
c.314T= (p.Met105=)
1g.230710537A>CCA345207021AGTc.287T>G (p.Met96Arg)
n.798T>G
c.314T>G (p.Met105Arg)
1g.230710537A>GCA38872004AGTc.287T>C (p.Met96Thr)
n.798T>C
c.314T>C (p.Met105Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.230710537A>TCA345207023AGTc.287T>A (p.Met96Lys)
n.798T>A
c.314T>A (p.Met105Lys)
1g.230710538T>ACA345207025AGTc.286A>T (p.Met96Leu)
n.797A>T
c.313A>T (p.Met105Leu)
1g.230710538T>CCA1448331AGTc.286A>G (p.Met96Val)
n.797A>G
c.313A>G (p.Met105Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710538T>GCA345207028AGTc.286A>C (p.Met96Leu)
n.797A>C
c.313A>C (p.Met105Leu)
1g.230710538T=CA1226669774AGTc.286A= (p.Met96=)
n.797A=
c.313A= (p.Met105=)
1g.230710538_230710539insGCTCA645521369AGTc.286_287insGCA (p.Ala95_Met96insSer)
n.797_798insGCA
c.313_314insGCA (p.Ala104_Met105insSer)
COSMIC

Number of alleles fetched