Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401262T>ACA414246381DCXc.433A>T (p.Asn145Tyr)
c.676A>T (p.Asn226Tyr)
c.651A>T
n.673A>T
Xg.111401262T>CCA414246382DCXc.433A>G (p.Asn145Asp)
c.676A>G (p.Asn226Asp)
c.651A>G
n.673A>G
Xg.111401262T>GCA414246383DCXc.433A>C (p.Asn145His)
c.676A>C (p.Asn226His)
c.651A>C
n.673A>C
Xg.111401263G>ACA518114242DCXc.432C>T (p.Pro144=)
c.675C>T (p.Pro225=)
c.650C>T
n.672C>T
Xg.111401263G>CCA518114243DCXc.432C>G (p.Pro144=)
c.675C>G (p.Pro225=)
c.650C>G
n.672C>G
Xg.111401263G>TCA518114244DCXc.432C>A (p.Pro144=)
c.675C>A (p.Pro225=)
c.650C>A
n.672C>A
Xg.111401264G>ACA414246384DCXc.431C>T (p.Pro144Leu)
c.674C>T (p.Pro225Leu)
c.649C>T
n.671C>T
Xg.111401264G>CCA414246385DCXc.431C>G (p.Pro144Arg)
c.674C>G (p.Pro225Arg)
c.649C>G
n.671C>G
Xg.111401264G>TCA414246386DCXc.431C>A (p.Pro144His)
c.674C>A (p.Pro225His)
c.649C>A
n.671C>A
Xg.111401265G>ACA414246389DCXc.430C>T (p.Pro144Ser)
c.673C>T (p.Pro225Ser)
c.648C>T
n.670C>T
Xg.111401265G>CCA414246387DCXc.430C>G (p.Pro144Ala)
c.673C>G (p.Pro225Ala)
c.648C>G
n.670C>G
Xg.111401265G>TCA414246388DCXc.430C>A (p.Pro144Thr)
c.673C>A (p.Pro225Thr)
c.648C>A
n.670C>A
Xg.111401266A=CA2451697270DCXc.429T= (p.Asn143=)
c.672T= (p.Asn224=)
c.647T=
n.669T=
Xg.111401266A>CCA414246390DCXc.429T>G (p.Asn143Lys)
c.672T>G (p.Asn224Lys)
c.647T>G
n.669T>G
Xg.111401266A>GCA10493323DCXc.429T>C (p.Asn143=)
c.672T>C (p.Asn224=)
c.647T>C
n.669T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401266A>TCA414246391DCXc.429T>A (p.Asn143Lys)
c.672T>A (p.Asn224Lys)
c.647T>A
n.669T>A
Xg.111401267T>ACA414246392DCXc.428A>T (p.Asn143Ile)
c.671A>T (p.Asn224Ile)
c.646A>T
n.668A>T
Xg.111401267T>CCA414246393DCXc.428A>G (p.Asn143Ser)
c.671A>G (p.Asn224Ser)
c.646A>G
n.668A>G
Xg.111401267T>GCA414246394DCXc.428A>C (p.Asn143Thr)
c.671A>C (p.Asn224Thr)
c.646A>C
n.668A>C
Xg.111401268T>ACA414246395DCXc.427A>T (p.Asn143Tyr)
c.670A>T (p.Asn224Tyr)
c.645A>T
n.667A>T
Xg.111401268T>CCA414246396DCXc.427A>G (p.Asn143Asp)
c.670A>G (p.Asn224Asp)
c.645A>G
n.667A>G
Xg.111401268T>GCA414246397DCXc.427A>C (p.Asn143His)
c.670A>C (p.Asn224His)
c.645A>C
n.667A>C
Xg.111401269G>ACA518114247DCXc.426C>T (p.Val142=)
c.669C>T (p.Val223=)
c.644C>T
n.666C>T
 gnomAD v4
Xg.111401269G>CCA518114248DCXc.426C>G (p.Val142=)
c.669C>G (p.Val223=)
c.644C>G
n.666C>G
 gnomAD v4
Xg.111401269G>TCA518114249DCXc.426C>A (p.Val142=)
c.669C>A (p.Val223=)
c.644C>A
n.666C>A
Xg.111401270A>CCA414246398DCXc.425T>G (p.Val142Gly)
c.668T>G (p.Val223Gly)
c.643T>G
n.665T>G
Xg.111401270A>GCA414246399DCXc.425T>C (p.Val142Ala)
c.668T>C (p.Val223Ala)
c.643T>C
n.665T>C
Xg.111401270A>TCA414246400DCXc.425T>A (p.Val142Asp)
c.668T>A (p.Val223Asp)
c.643T>A
n.665T>A
Xg.111401271C>ACA414246402DCXc.424G>T (p.Val142Phe)
c.667G>T (p.Val223Phe)
c.642G>T
n.664G>T
Xg.111401271C=CA2451697271DCXc.424G= (p.Val142=)
c.667G= (p.Val223=)
c.642G=
n.664G=
Xg.111401271C>GCA414246401DCXc.424G>C (p.Val142Leu)
c.667G>C (p.Val223Leu)
c.642G>C
n.664G>C
Xg.111401271C>TCA334420248DCXc.424G>A (p.Val142Ile)
c.667G>A (p.Val223Ile)
c.642G>A
n.664G>A
 dbSNP
Xg.111401272A>CCA414246403DCXc.423T>G (p.Asn141Lys)
c.666T>G (p.Asn222Lys)
c.641T>G
n.663T>G
Xg.111401272A>GCA518114250DCXc.423T>C (p.Asn141=)
c.666T>C (p.Asn222=)
c.641T>C
n.663T>C
 gnomAD v3 gnomAD v4
Xg.111401272A>TCA414246404DCXc.423T>A (p.Asn141Lys)
c.666T>A (p.Asn222Lys)
c.641T>A
n.663T>A
Xg.111401273T>ACA414246405DCXc.422A>T (p.Asn141Ile)
c.665A>T (p.Asn222Ile)
c.640A>T
n.662A>T
Xg.111401273T>CCA414246406DCXc.422A>G (p.Asn141Ser)
c.665A>G (p.Asn222Ser)
c.640A>G
n.662A>G
Xg.111401273T>GCA414246407DCXc.422A>C (p.Asn141Thr)
c.665A>C (p.Asn222Thr)
c.640A>C
n.662A>C
Xg.111401274T>ACA414246408DCXc.421A>T (p.Asn141Tyr)
c.664A>T (p.Asn222Tyr)
c.639A>T
n.661A>T
Xg.111401274T>CCA414246409DCXc.421A>G (p.Asn141Asp)
c.664A>G (p.Asn222Asp)
c.639A>G
n.661A>G
 ClinVar dbSNP
Xg.111401274T>GCA414246410DCXc.421A>C (p.Asn141His)
c.664A>C (p.Asn222His)
c.639A>C
n.661A>C
Xg.111401275C>ACA414246411DCXc.420G>T (p.Lys140Asn)
c.663G>T (p.Lys221Asn)
c.638G>T
n.660G>T
Xg.111401275C>GCA414246412DCXc.420G>C (p.Lys140Asn)
c.663G>C (p.Lys221Asn)
c.638G>C
n.660G>C
Xg.111401275C>TCA518114253DCXc.420G>A (p.Lys140=)
c.663G>A (p.Lys221=)
c.638G>A
n.660G>A
Xg.111401276T>ACA414246413DCXc.419A>T (p.Lys140Met)
c.662A>T (p.Lys221Met)
c.637A>T
n.659A>T
Xg.111401276T>CCA414246414DCXc.419A>G (p.Lys140Arg)
c.662A>G (p.Lys221Arg)
c.637A>G
n.659A>G
Xg.111401276T>GCA414246415DCXc.419A>C (p.Lys140Thr)
c.662A>C (p.Lys221Thr)
c.637A>C
n.659A>C
Xg.111401277T>ACA414246418DCXc.418A>T (p.Lys140Ter)
c.661A>T (p.Lys221Ter)
c.636A>T
n.658A>T
Xg.111401277T>CCA414246416DCXc.418A>G (p.Lys140Glu)
c.661A>G (p.Lys221Glu)
c.636A>G
n.658A>G
Xg.111401277T>GCA414246417DCXc.418A>C (p.Lys140Gln)
c.661A>C (p.Lys221Gln)
c.636A>C
n.658A>C
Xg.111401278G>ACA518114254DCXc.417C>T (p.Thr139=)
c.660C>T (p.Thr220=)
c.635C>T
n.657C>T
 gnomAD v4
Xg.111401278G>CCA518114255DCXc.417C>G (p.Thr139=)
c.660C>G (p.Thr220=)
c.635C>G
n.657C>G
Xg.111401278G>TCA518114256DCXc.417C>A (p.Thr139=)
c.660C>A (p.Thr220=)
c.635C>A
n.657C>A
Xg.111401279G>ACA414246419DCXc.416C>T (p.Thr139Ile)
c.659C>T (p.Thr220Ile)
c.634C>T
n.656C>T
 COSMIC COSMIC
Xg.111401279G>CCA414246420DCXc.416C>G (p.Thr139Ser)
c.659C>G (p.Thr220Ser)
c.634C>G
n.656C>G
Xg.111401279G>TCA414246421DCXc.416C>A (p.Thr139Asn)
c.659C>A (p.Thr220Asn)
c.634C>A
n.656C>A
Xg.111401280T>ACA414246422DCXc.415A>T (p.Thr139Ser)
c.658A>T (p.Thr220Ser)
c.633A>T
n.655A>T
Xg.111401280T>CCA414246423DCXc.415A>G (p.Thr139Ala)
c.658A>G (p.Thr220Ala)
c.633A>G
n.655A>G
Xg.111401280T>GCA414246424DCXc.415A>C (p.Thr139Pro)
c.658A>C (p.Thr220Pro)
c.633A>C
n.655A>C
Xg.111401280_111401281insCCA2573159135DCXc.414_415insG (p.Thr139AspfsTer26)
c.657_658insG (p.Thr220AspfsTer26)
c.632_633insG
n.654_655insG
 ClinVar dbSNP
Xg.111401281G>ACA10493324DCXc.414C>T (p.Tyr138=)
c.657C>T (p.Tyr219=)
c.632C>T
n.654C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111401281G>CCA414246425DCXc.414C>G (p.Tyr138Ter)
c.657C>G (p.Tyr219Ter)
c.632C>G
n.654C>G
Xg.111401281G=CA2451697272DCXc.414C= (p.Tyr138=)
c.657C= (p.Tyr219=)
c.632C=
n.654C=
Xg.111401281G>TCA414246426DCXc.414C>A (p.Tyr138Ter)
c.657C>A (p.Tyr219Ter)
c.632C>A
n.654C>A
Xg.111401282T>ACA414246427DCXc.413A>T (p.Tyr138Phe)
c.656A>T (p.Tyr219Phe)
c.631A>T
n.653A>T
Xg.111401282T>CCA171960DCXc.413A>G (p.Tyr138Cys)
c.656A>G (p.Tyr219Cys)
c.631A>G
n.653A>G
 ClinVar dbSNP
Xg.111401282T>GCA414246428DCXc.413A>C (p.Tyr138Ser)
c.656A>C (p.Tyr219Ser)
c.631A>C
n.653A>C
Xg.111401282T=CA2451697273DCXc.413A= (p.Tyr138=)
c.656A= (p.Tyr219=)
c.631A=
n.653A=
Xg.111401283A=CA2451697274DCXc.412T= (p.Tyr138=)
c.655T= (p.Tyr219=)
c.630T=
n.652T=
Xg.111401283A>CCA414246430DCXc.412T>G (p.Tyr138Asp)
c.655T>G (p.Tyr219Asp)
c.630T>G
n.652T>G
Xg.111401283A>GCA171957DCXc.412T>C (p.Tyr138His)
c.655T>C (p.Tyr219His)
c.630T>C
n.652T>C
 ClinVar dbSNP
Xg.111401283A>TCA414246429DCXc.412T>A (p.Tyr138Asn)
c.655T>A (p.Tyr219Asn)
c.630T>A
n.652T>A
Xg.111401284C>ACA414246431DCXc.411G>T (p.Glu137Asp)
c.654G>T (p.Glu218Asp)
c.629G>T
n.651G>T
Xg.111401284C=CA2451697275DCXc.411G= (p.Glu137=)
c.654G= (p.Glu218=)
c.629G=
n.651G=
Xg.111401284C>GCA414246432DCXc.411G>C (p.Glu137Asp)
c.654G>C (p.Glu218Asp)
c.629G>C
n.651G>C
Xg.111401284C>TCA518114257DCXc.411G>A (p.Glu137=)
c.654G>A (p.Glu218=)
c.629G>A
n.651G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.111401285T>ACA414246433DCXc.410A>T (p.Glu137Val)
c.653A>T (p.Glu218Val)
c.628A>T
n.650A>T
Xg.111401285T>CCA414246435DCXc.410A>G (p.Glu137Gly)
c.653A>G (p.Glu218Gly)
c.628A>G
n.650A>G
Xg.111401285T>GCA414246434DCXc.410A>C (p.Glu137Ala)
c.653A>C (p.Glu218Ala)
c.628A>C
n.650A>C
Xg.111401286C>ACA171954DCXc.409G>T (p.Glu137Ter)
c.652G>T (p.Glu218Ter)
c.627G>T
n.649G>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111401286C=CA2451697276DCXc.409G= (p.Glu137=)
c.652G= (p.Glu218=)
c.627G=
n.649G=
Xg.111401286C>GCA414246436DCXc.409G>C (p.Glu137Gln)
c.652G>C (p.Glu218Gln)
c.627G>C
n.649G>C
Xg.111401286C>TCA414246437DCXc.409G>A (p.Glu137Lys)
c.652G>A (p.Glu218Lys)
c.627G>A
n.649G>A
Xg.111401287C>ACA518114258DCXc.408G>T (p.Val136=)
c.651G>T (p.Val217=)
c.626G>T
n.648G>T
Xg.111401287C>GCA518114259DCXc.408G>C (p.Val136=)
c.651G>C (p.Val217=)
c.626G>C
n.648G>C
Xg.111401287C>TCA518114260DCXc.408G>A (p.Val136=)
c.651G>A (p.Val217=)
c.626G>A
n.648G>A
 gnomAD v4
Xg.111401288A>CCA414246438DCXc.407T>G (p.Val136Gly)
c.650T>G (p.Val217Gly)
c.625T>G
n.647T>G
Xg.111401288A>GCA414246439DCXc.407T>C (p.Val136Ala)
c.650T>C (p.Val217Ala)
c.625T>C
n.647T>C
Xg.111401288A>TCA414246440DCXc.407T>A (p.Val136Glu)
c.650T>A (p.Val217Glu)
c.625T>A
n.647T>A
Xg.111401289C>ACA414246441DCXc.406G>T (p.Val136Leu)
c.649G>T (p.Val217Leu)
c.624G>T
n.646G>T
Xg.111401289C=CA2451697277DCXc.406G= (p.Val136=)
c.649G= (p.Val217=)
c.624G=
n.646G=
Xg.111401289C>GCA10493325DCXc.406G>C (p.Val136Leu)
c.649G>C (p.Val217Leu)
c.624G>C
n.646G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401289C>TCA414246442DCXc.406G>A (p.Val136Met)
c.649G>A (p.Val217Met)
c.624G>A
n.646G>A
Xg.111401290C>ACA414246443DCXc.405G>T (p.Lys135Asn)
c.648G>T (p.Lys216Asn)
c.623G>T
n.645G>T
Xg.111401290C>GCA414246444DCXc.405G>C (p.Lys135Asn)
c.648G>C (p.Lys216Asn)
c.623G>C
n.645G>C
Xg.111401290C>TCA518114261DCXc.405G>A (p.Lys135=)
c.648G>A (p.Lys216=)
c.623G>A
n.645G>A
Xg.111401291T>ACA414246447DCXc.404A>T (p.Lys135Met)
c.647A>T (p.Lys216Met)
c.622A>T
n.644A>T
Xg.111401291T>CCA414246445DCXc.404A>G (p.Lys135Arg)
c.647A>G (p.Lys216Arg)
c.622A>G
n.644A>G
Xg.111401291T>GCA414246446DCXc.404A>C (p.Lys135Thr)
c.647A>C (p.Lys216Thr)
c.622A>C
n.644A>C
Xg.111401295dupCA2840296187DCXc.404dup (p.Val136GlyfsTer29)
c.647dup (p.Val217GlyfsTer29)
c.622dup
n.644dup
Xg.111401295delCA518114262DCXc.404del (p.Lys135ArgfsTer16)
c.647del (p.Lys216ArgfsTer16)
c.622del
n.644del
 COSMIC COSMIC
Xg.111401294_111401295delCA2695235806DCXc.403_404del (p.Lys135GlyfsTer29)
c.646_647del (p.Lys216GlyfsTer29)
c.621_622del
n.643_644del
Xg.111401292T>ACA414246448DCXc.403A>T (p.Lys135Ter)
c.646A>T (p.Lys216Ter)
c.621A>T
n.643A>T
Xg.111401292T>CCA414246449DCXc.403A>G (p.Lys135Glu)
c.646A>G (p.Lys216Glu)
c.621A>G
n.643A>G
Xg.111401292T>GCA414246450DCXc.403A>C (p.Lys135Gln)
c.646A>C (p.Lys216Gln)
c.621A>C
n.643A>C
Xg.111401293T>ACA334420249DCXc.402A>T (p.Lys134Asn)
c.645A>T (p.Lys215Asn)
c.620A>T
n.642A>T
 dbSNP
Xg.111401293T>CCA518114263DCXc.402A>G (p.Lys134=)
c.645A>G (p.Lys215=)
c.620A>G
n.642A>G
Xg.111401293T>GCA414246451DCXc.402A>C (p.Lys134Asn)
c.645A>C (p.Lys215Asn)
c.620A>C
n.642A>C
Xg.111401293T=CA2451697278DCXc.402A= (p.Lys134=)
c.645A= (p.Lys215=)
c.620A=
n.642A=
Xg.111401294T>ACA414246452DCXc.401A>T (p.Lys134Ile)
c.644A>T (p.Lys215Ile)
c.619A>T
n.641A>T
Xg.111401294T>CCA414246453DCXc.401A>G (p.Lys134Arg)
c.644A>G (p.Lys215Arg)
c.619A>G
n.641A>G
Xg.111401294T>GCA414246454DCXc.401A>C (p.Lys134Thr)
c.644A>C (p.Lys215Thr)
c.619A>C
n.641A>C
Xg.111401295T>ACA414246455DCXc.400A>T (p.Lys134Ter)
c.643A>T (p.Lys215Ter)
c.618A>T
n.640A>T
Xg.111401295T>CCA414246456DCXc.400A>G (p.Lys134Glu)
c.643A>G (p.Lys215Glu)
c.618A>G
n.640A>G
Xg.111401295T>GCA414246457DCXc.400A>C (p.Lys134Gln)
c.643A>C (p.Lys215Gln)
c.618A>C
n.640A>C
Xg.111401296A>CCA414246459DCXc.399T>G (p.Phe133Leu)
c.642T>G (p.Phe214Leu)
c.617T>G
n.639T>G
Xg.111401296A>GCA518114264DCXc.399T>C (p.Phe133=)
c.642T>C (p.Phe214=)
c.617T>C
n.639T>C
Xg.111401296A>TCA414246458DCXc.399T>A (p.Phe133Leu)
c.642T>A (p.Phe214Leu)
c.617T>A
n.639T>A
Xg.111401297A>CCA414246460DCXc.398T>G (p.Phe133Cys)
c.641T>G (p.Phe214Cys)
c.616T>G
n.638T>G
Xg.111401297A>GCA414246461DCXc.398T>C (p.Phe133Ser)
c.641T>C (p.Phe214Ser)
c.616T>C
n.638T>C
Xg.111401297A>TCA414246462DCXc.398T>A (p.Phe133Tyr)
c.641T>A (p.Phe214Tyr)
c.616T>A
n.638T>A
Xg.111401298A>CCA414246463DCXc.397T>G (p.Phe133Val)
c.640T>G (p.Phe214Val)
c.615T>G
n.637T>G
Xg.111401298A>GCA414246464DCXc.397T>C (p.Phe133Leu)
c.640T>C (p.Phe214Leu)
c.615T>C
n.637T>C
Xg.111401298A>TCA414246465DCXc.397T>A (p.Phe133Ile)
c.640T>A (p.Phe214Ile)
c.615T>A
n.637T>A
Xg.111401299G>ACA518114265DCXc.396C>T (p.Phe132=)
c.639C>T (p.Phe213=)
c.614C>T
n.636C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111401299G>CCA414246467DCXc.396C>G (p.Phe132Leu)
c.639C>G (p.Phe213Leu)
c.614C>G
n.636C>G
Xg.111401299G=CA2451697279DCXc.396C= (p.Phe132=)
c.639C= (p.Phe213=)
c.614C=
n.636C=
Xg.111401299G>TCA414246466DCXc.396C>A (p.Phe132Leu)
c.639C>A (p.Phe213Leu)
c.614C>A
n.636C>A
 COSMIC COSMIC
Xg.111401300A>CCA414246468DCXc.395T>G (p.Phe132Cys)
c.638T>G (p.Phe213Cys)
c.613T>G
n.635T>G
Xg.111401300A>GCA414246469DCXc.395T>C (p.Phe132Ser)
c.638T>C (p.Phe213Ser)
c.613T>C
n.635T>C
Xg.111401300A>TCA414246470DCXc.395T>A (p.Phe132Tyr)
c.638T>A (p.Phe213Tyr)
c.613T>A
n.635T>A
Xg.111401301A>CCA414246471DCXc.394T>G (p.Phe132Val)
c.637T>G (p.Phe213Val)
c.612T>G
n.634T>G
Xg.111401301A>GCA414246472DCXc.394T>C (p.Phe132Leu)
c.637T>C (p.Phe213Leu)
c.612T>C
n.634T>C
Xg.111401301A>TCA414246473DCXc.394T>A (p.Phe132Ile)
c.637T>A (p.Phe213Ile)
c.612T>A
n.634T>A
Xg.111401301_111401304delinsAGTTCA2451697280DCXc.391_394delinsAACT (p.Asn131=)
c.634_637delinsAACT (p.Asn212=)
c.609_612delinsAACT
n.631_634delinsAACT
Xg.111401302G>ACA334420250DCXc.393C>T (p.Asn131=)
c.636C>T (p.Asn212=)
c.611C>T
n.633C>T
 dbSNP
Xg.111401302G>CCA414246474DCXc.393C>G (p.Asn131Lys)
c.636C>G (p.Asn212Lys)
c.611C>G
n.633C>G
Xg.111401302G=CA2451697281DCXc.393C= (p.Asn131=)
c.636C= (p.Asn212=)
c.611C=
n.633C=
Xg.111401302G>TCA414246475DCXc.393C>A (p.Asn131Lys)
c.636C>A (p.Asn212Lys)
c.611C>A
n.633C>A
Xg.111401304_111401306delCA171951DCXc.391_393del (p.Asn131del)
c.634_636del (p.Asn212del)
c.609_611del
n.631_633del
 ClinVar dbSNP
Xg.111401303T>ACA414246476DCXc.392A>T (p.Asn131Ile)
c.635A>T (p.Asn212Ile)
c.610A>T
n.632A>T
Xg.111401303T>CCA414246477DCXc.392A>G (p.Asn131Ser)
c.635A>G (p.Asn212Ser)
c.610A>G
n.632A>G
 gnomAD v4
Xg.111401303T>GCA414246478DCXc.392A>C (p.Asn131Thr)
c.635A>C (p.Asn212Thr)
c.610A>C
n.632A>C
Xg.111401304T>ACA414246479DCXc.391A>T (p.Asn131Tyr)
c.634A>T (p.Asn212Tyr)
c.609A>T
n.631A>T
Xg.111401304T>CCA414246480DCXc.391A>G (p.Asn131Asp)
c.634A>G (p.Asn212Asp)
c.609A>G
n.631A>G
Xg.111401304T>GCA414246481DCXc.391A>C (p.Asn131His)
c.634A>C (p.Asn212His)
c.609A>C
n.631A>C
Xg.111401305G>ACA518114266DCXc.390C>T (p.Asp130=)
c.633C>T (p.Asp211=)
c.608C>T
n.630C>T
Xg.111401305G>CCA414246482DCXc.390C>G (p.Asp130Glu)
c.633C>G (p.Asp211Glu)
c.608C>G
n.630C>G
Xg.111401305G>TCA414246483DCXc.390C>A (p.Asp130Glu)
c.633C>A (p.Asp211Glu)
c.608C>A
n.630C>A
Xg.111401306T>ACA414246484DCXc.389A>T (p.Asp130Val)
c.632A>T (p.Asp211Val)
c.607A>T
n.629A>T
Xg.111401306T>CCA16621178DCXc.389A>G (p.Asp130Gly)
c.632A>G (p.Asp211Gly)
c.607A>G
n.629A>G
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.111401306T>GCA414246485DCXc.389A>C (p.Asp130Ala)
c.632A>C (p.Asp211Ala)
c.607A>C
n.629A>C
Xg.111401306T=CA2451697282DCXc.389A= (p.Asp130=)
c.632A= (p.Asp211=)
c.607A=
n.629A=
Xg.111401307C>ACA414246487DCXc.388G>T (p.Asp130Tyr)
c.631G>T (p.Asp211Tyr)
c.606G>T
n.628G>T
Xg.111401307C>GCA414246488DCXc.388G>C (p.Asp130His)
c.631G>C (p.Asp211His)
c.606G>C
n.628G>C
Xg.111401307C>TCA414246486DCXc.388G>A (p.Asp130Asn)
c.631G>A (p.Asp211Asn)
c.606G>A
n.628G>A
Xg.111401308T>ACA518114267DCXc.387A>T (p.Ser129=)
c.630A>T (p.Ser210=)
c.605A>T
n.627A>T
 COSMIC
Xg.111401308T>CCA518114268DCXc.387A>G (p.Ser129=)
c.630A>G (p.Ser210=)
c.605A>G
n.627A>G
Xg.111401308T>GCA518114269DCXc.387A>C (p.Ser129=)
c.630A>C (p.Ser210=)
c.605A>C
n.627A>C
Xg.111401309G>ACA171948DCXc.386C>T (p.Ser129Leu)
c.629C>T (p.Ser210Leu)
c.604C>T
n.626C>T
 ClinVar dbSNP
Xg.111401309G>CCA414246489DCXc.386C>G (p.Ser129Ter)
c.629C>G (p.Ser210Ter)
c.604C>G
n.626C>G
Xg.111401309G=CA2451697283DCXc.386C= (p.Ser129=)
c.629C= (p.Ser210=)
c.604C=
n.626C=
Xg.111401309G>TCA414246490DCXc.386C>A (p.Ser129Ter)
c.629C>A (p.Ser210Ter)
c.604C>A
n.626C>A
Xg.111401310A>CCA414246491DCXc.385T>G (p.Ser129Ala)
c.628T>G (p.Ser210Ala)
c.603T>G
n.625T>G
Xg.111401310A>GCA414246492DCXc.385T>C (p.Ser129Pro)
c.628T>C (p.Ser210Pro)
c.603T>C
n.625T>C
 COSMIC COSMIC
Xg.111401310A>TCA414246493DCXc.385T>A (p.Ser129Thr)
c.628T>A (p.Ser210Thr)
c.603T>A
n.625T>A
Xg.111401311G>ACA518114270DCXc.384C>T (p.Ser128=)
c.627C>T (p.Ser209=)
c.602C>T
n.624C>T
 COSMIC COSMIC
Xg.111401311G>CCA518114271DCXc.384C>G (p.Ser128=)
c.627C>G (p.Ser209=)
c.602C>G
n.624C>G
 dbSNP gnomAD v4
Xg.111401311G=CA2451697284DCXc.384C= (p.Ser128=)
c.627C= (p.Ser209=)
c.602C=
n.624C=
Xg.111401311G>TCA518114272DCXc.384C>A (p.Ser128=)
c.627C>A (p.Ser209=)
c.602C>A
n.624C>A
Xg.111401312G>ACA414246494DCXc.383C>T (p.Ser128Phe)
c.626C>T (p.Ser209Phe)
c.601C>T
n.623C>T
 ClinVar
Xg.111401312G>CCA414246495DCXc.383C>G (p.Ser128Cys)
c.626C>G (p.Ser209Cys)
c.601C>G
n.623C>G
Xg.111401312G>TCA414246496DCXc.383C>A (p.Ser128Tyr)
c.626C>A (p.Ser209Tyr)
c.601C>A
n.623C>A
Xg.111401313A>CCA414246497DCXc.382T>G (p.Ser128Ala)
c.625T>G (p.Ser209Ala)
c.600T>G
n.622T>G
Xg.111401313A>GCA414246498DCXc.382T>C (p.Ser128Pro)
c.625T>C (p.Ser209Pro)
c.600T>C
n.622T>C
Xg.111401313A>TCA414246499DCXc.382T>A (p.Ser128Thr)
c.625T>A (p.Ser209Thr)
c.600T>A
n.622T>A
Xg.111401314A>CCA414246500DCXc.381T>G (p.Cys127Trp)
c.624T>G (p.Cys208Trp)
c.599T>G
n.621T>G
Xg.111401314A>GCA518114273DCXc.381T>C (p.Cys127=)
c.624T>C (p.Cys208=)
c.599T>C
n.621T>C
Xg.111401314A>TCA414246501DCXc.381T>A (p.Cys127Ter)
c.624T>A (p.Cys208Ter)
c.599T>A
n.621T>A
Xg.111401315C>ACA414246502DCXc.380G>T (p.Cys127Phe)
c.623G>T (p.Cys208Phe)
c.598G>T
n.620G>T
Xg.111401315C=CA2451697285DCXc.380G= (p.Cys127=)
c.623G= (p.Cys208=)
c.598G=
n.620G=
Xg.111401315C>GCA414246503DCXc.380G>C (p.Cys127Ser)
c.623G>C (p.Cys208Ser)
c.598G>C
n.620G>C
Xg.111401315C>TCA171945DCXc.380G>A (p.Cys127Tyr)
c.623G>A (p.Cys208Tyr)
c.598G>A
n.620G>A
 ClinVar dbSNP
Xg.111401316A>CCA414246504DCXc.379T>G (p.Cys127Gly)
c.622T>G (p.Cys208Gly)
c.597T>G
n.619T>G
Xg.111401316A>GCA414246505DCXc.379T>C (p.Cys127Arg)
c.622T>C (p.Cys208Arg)
c.597T>C
n.619T>C
Xg.111401316A>TCA414246506DCXc.379T>A (p.Cys127Ser)
c.622T>A (p.Cys208Ser)
c.597T>A
n.619T>A
Xg.111401317G>ACA518114274DCXc.378C>T (p.Val126=)
c.621C>T (p.Val207=)
c.596C>T
n.618C>T
Xg.111401317G>CCA518114275DCXc.378C>G (p.Val126=)
c.621C>G (p.Val207=)
c.596C>G
n.618C>G
Xg.111401317G=CA2451697286DCXc.378C= (p.Val126=)
c.621C= (p.Val207=)
c.596C=
n.618C=
Xg.111401317G>TCA518114276DCXc.378C>A (p.Val126=)
c.621C>A (p.Val207=)
c.596C>A
n.618C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.111401318A=CA2451697287DCXc.377T= (p.Val126=)
c.620T= (p.Val207=)
c.595T=
n.617T=
Xg.111401318A>CCA414246507DCXc.377T>G (p.Val126Gly)
c.620T>G (p.Val207Gly)
c.595T>G
n.617T>G
Xg.111401318A>GCA414246508DCXc.377T>C (p.Val126Ala)
c.620T>C (p.Val207Ala)
c.595T>C
n.617T>C
Xg.111401318A>TCA171942DCXc.377T>A (p.Val126Asp)
c.620T>A (p.Val207Asp)
c.595T>A
n.617T>A
 ClinVar dbSNP
Xg.111401319C>ACA414246509DCXc.376G>T (p.Val126Phe)
c.619G>T (p.Val207Phe)
c.594G>T
n.616G>T
Xg.111401319C>GCA414246510DCXc.376G>C (p.Val126Leu)
c.619G>C (p.Val207Leu)
c.594G>C
n.616G>C
Xg.111401319C>TCA414246511DCXc.376G>A (p.Val126Ile)
c.619G>A (p.Val207Ile)
c.594G>A
n.616G>A
Xg.111401320A>CCA414246512DCXc.375T>G (p.Tyr125Ter)
c.618T>G (p.Tyr206Ter)
c.593T>G
n.615T>G
Xg.111401320A>GCA518114277DCXc.375T>C (p.Tyr125=)
c.618T>C (p.Tyr206=)
c.593T>C
n.615T>C
Xg.111401320A>TCA414246513DCXc.375T>A (p.Tyr125Ter)
c.618T>A (p.Tyr206Ter)
c.593T>A
n.615T>A
Xg.111401321T>ACA414246515DCXc.374A>T (p.Tyr125Phe)
c.617A>T (p.Tyr206Phe)
c.592A>T
n.614A>T
 COSMIC COSMIC
Xg.111401321T>CCA414246516DCXc.374A>G (p.Tyr125Cys)
c.617A>G (p.Tyr206Cys)
c.592A>G
n.614A>G
Xg.111401321T>GCA414246514DCXc.374A>C (p.Tyr125Ser)
c.617A>C (p.Tyr206Ser)
c.592A>C
n.614A>C
 COSMIC COSMIC
Xg.111401322A=CA2451697288DCXc.373T= (p.Tyr125=)
c.616T= (p.Tyr206=)
c.591T=
n.613T=
Xg.111401322A>CCA414246517DCXc.373T>G (p.Tyr125Asp)
c.616T>G (p.Tyr206Asp)
c.591T>G
n.613T>G
Xg.111401322A>GCA121594DCXc.373T>C (p.Tyr125His)
c.616T>C (p.Tyr206His)
c.591T>C
n.613T>C
 ClinVar dbSNP
Xg.111401322A>TCA414246518DCXc.373T>A (p.Tyr125Asn)
c.616T>A (p.Tyr206Asn)
c.591T>A
n.613T>A
Xg.111401323G>ACA518114278DCXc.372C>T (p.Ser124=)
c.615C>T (p.Ser205=)
c.590C>T
n.612C>T
 COSMIC COSMIC
Xg.111401323G>CCA414246519DCXc.372C>G (p.Ser124Arg)
c.615C>G (p.Ser205Arg)
c.590C>G
n.612C>G
Xg.111401323G>TCA414246520DCXc.372C>A (p.Ser124Arg)
c.615C>A (p.Ser205Arg)
c.590C>A
n.612C>A
 gnomAD v4
Xg.111401324C>ACA414246521DCXc.371G>T (p.Ser124Ile)
c.614G>T (p.Ser205Ile)
c.589G>T
n.611G>T
Xg.111401324C>GCA414246522DCXc.371G>C (p.Ser124Thr)
c.614G>C (p.Ser205Thr)
c.589G>C
n.611G>C
Xg.111401324C>TCA414246523DCXc.371G>A (p.Ser124Asn)
c.614G>A (p.Ser205Asn)
c.589G>A
n.611G>A
 gnomAD v4
Xg.111401325T>ACA414246524DCXc.370A>T (p.Ser124Cys)
c.613A>T (p.Ser205Cys)
c.588A>T
n.610A>T
Xg.111401325T>CCA414246525DCXc.370A>G (p.Ser124Gly)
c.613A>G (p.Ser205Gly)
c.588A>G
n.610A>G
Xg.111401325T>GCA414246526DCXc.370A>C (p.Ser124Arg)
c.613A>C (p.Ser205Arg)
c.588A>C
n.610A>C
Xg.111401326T>ACA414246527DCXc.369A>T (p.Glu123Asp)
c.612A>T (p.Glu204Asp)
c.587A>T
n.609A>T
Xg.111401326T>CCA518114279DCXc.369A>G (p.Glu123=)
c.612A>G (p.Glu204=)
c.587A>G
n.609A>G
Xg.111401326T>GCA414246528DCXc.369A>C (p.Glu123Asp)
c.612A>C (p.Glu204Asp)
c.587A>C
n.609A>C
Xg.111401327T>ACA414246531DCXc.368A>T (p.Glu123Val)
c.611A>T (p.Glu204Val)
c.586A>T
n.608A>T
Xg.111401327T>CCA414246530DCXc.368A>G (p.Glu123Gly)
c.611A>G (p.Glu204Gly)
c.586A>G
n.608A>G
Xg.111401327T>GCA414246529DCXc.368A>C (p.Glu123Ala)
c.611A>C (p.Glu204Ala)
c.586A>C
n.608A>C
Xg.111401327_111401328delinsTCCA2451697289DCXc.367_368delinsGA (p.Glu123=)
c.610_611delinsGA (p.Glu204=)
c.585_586delinsGA
n.607_608delinsGA
Xg.111401328C>ACA414246532DCXc.367G>T (p.Glu123Ter)
c.610G>T (p.Glu204Ter)
c.585G>T
n.607G>T
Xg.111401328C>GCA414246533DCXc.367G>C (p.Glu123Gln)
c.610G>C (p.Glu204Gln)
c.585G>C
n.607G>C
Xg.111401328C>TCA414246534DCXc.367G>A (p.Glu123Lys)
c.610G>A (p.Glu204Lys)
c.585G>A
n.607G>A
 COSMIC COSMIC
Xg.111401331delCA171941DCXc.367del
c.610del
c.585del
n.607del
 ClinVar dbSNP
Xg.111401329C>ACA518114280DCXc.366G>T (p.Gly122=)
c.609G>T (p.Gly203=)
c.584G>T
n.606G>T
 dbSNP
Xg.111401329C=CA2451697290DCXc.366G= (p.Gly122=)
c.609G= (p.Gly203=)
c.584G=
n.606G=
Xg.111401329C>GCA518114281DCXc.366G>C (p.Gly122=)
c.609G>C (p.Gly203=)
c.584G>C
n.606G>C
Xg.111401329C>TCA10493326DCXc.366G>A (p.Gly122=)
c.609G>A (p.Gly203=)
c.584G>A
n.606G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111401330C>ACA414246535DCXc.365G>T (p.Gly122Val)
c.608G>T (p.Gly203Val)
c.583G>T
n.605G>T
Xg.111401330C>GCA414246536DCXc.365G>C (p.Gly122Ala)
c.608G>C (p.Gly203Ala)
c.583G>C
n.605G>C
Xg.111401330C>TCA414246537DCXc.365G>A (p.Gly122Glu)
c.608G>A (p.Gly203Glu)
c.583G>A
n.605G>A
Xg.111401331C>ACA414246538DCXc.365-1G>T (n.365-1G>T)
c.608-1G>T (n.608-1G>T)
c.583-1G>T
n.605-1G>T
 ClinVar dbSNP
Xg.111401331C>GCA414246539DCXc.365-1G>C (n.365-1G>C)
c.608-1G>C (n.608-1G>C)
c.583-1G>C
n.605-1G>C
Xg.111401331C>TCA414246540DCXc.365-1G>A (n.365-1G>A)
c.608-1G>A (n.608-1G>A)
c.583-1G>A
n.605-1G>A
Xg.111401332T>ACA414246541DCXc.365-2A>T (n.365-2A>T)
c.608-2A>T (n.608-2A>T)
c.583-2A>T
n.605-2A>T
Xg.111401332T>CCA334420251DCXc.365-2A>G (n.365-2A>G)
c.608-2A>G (n.608-2A>G)
c.583-2A>G
n.605-2A>G
 dbSNP
Xg.111401332T>GCA414246542DCXc.365-2A>C (n.365-2A>C)
c.608-2A>C (n.608-2A>C)
c.583-2A>C
n.605-2A>C
Xg.111401332T=CA2451697291DCXc.365-2A= (n.365-2A=)
c.608-2A= (n.608-2A=)
c.583-2A=
n.605-2A=
Xg.111401332_111401333insTCCTCCCA2822982956DCXc.365-3_365-2insGGAGGA (n.365-3_365-2insGGAGGA)
c.608-3_608-2insGGAGGA (n.608-3_608-2insGGAGGA)
c.583-3_583-2insGGAGGA
n.605-3_605-2insGGAGGA
Xg.111401333A>TCA2822982957DCXc.365-3T>A (n.365-3T>A)
c.608-3T>A (n.608-3T>A)
c.583-3T>A
n.605-3T>A
Xg.111401333_111401334insGTTCATCCATGCTTCCGATCTTCCTGGATCCATCAATGGTGTAAATGTAACGCACTCCCTGCA2822982958DCXc.365-4_365-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC (n.365-4_365-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC)
c.608-4_608-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC (n.608-4_608-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC)
c.583-4_583-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC
n.605-4_605-3insCAGGGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAAC
Xg.111401336G>ACA2579680620DCXc.365-6C>T (n.365-6C>T)
c.608-6C>T (n.608-6C>T)
c.583-6C>T
n.605-6C>T
Xg.111401337C>GCA2553723193DCXc.365-7G>C (n.365-7G>C)
c.608-7G>C (n.608-7G>C)
c.583-7G>C
n.605-7G>C
Xg.111401342A=CA2451697292DCXc.365-12T= (n.365-12T=)
c.608-12T= (n.608-12T=)
c.583-12T=
n.605-12T=
Xg.111401342A>CCA870061348DCXc.365-12T>G (n.365-12T>G)
c.608-12T>G (n.608-12T>G)
c.583-12T>G
n.605-12T>G
 dbSNP
Xg.111401345A=CA2451697293DCXc.365-15T= (n.365-15T=)
c.608-15T= (n.608-15T=)
c.583-15T=
n.605-15T=
Xg.111401345_111401346insTCACTTCAACTTCCTTTTATCAAAATAGATGCTGAGCATCAATGTGCA10493327DCXc.365-16_365-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA (n.365-16_365-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA)
c.608-16_608-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA (n.608-16_608-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA)
c.583-16_583-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA
n.605-16_605-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA
 dbSNP ExAC
Xg.111401346A>CCA2694473337DCXc.365-16T>G (n.365-16T>G)
c.608-16T>G (n.608-16T>G)
c.583-16T>G
n.605-16T>G
 gnomAD v4
Xg.111401348T>ACA2535902810DCXc.365-18A>T (n.365-18A>T)
c.608-18A>T (n.608-18A>T)
c.583-18A>T
n.605-18A>T
Xg.111401348T>GCA10493328DCXc.365-18A>C (n.365-18A>C)
c.608-18A>C (n.608-18A>C)
c.583-18A>C
n.605-18A>C
 dbSNP ExAC
Xg.111401348T=CA2451697294DCXc.365-18A= (n.365-18A=)
c.608-18A= (n.608-18A=)
c.583-18A=
n.605-18A=
Xg.111401348_111401352delCA2538891388DCXc.365-22_365-18del (n.365-22_365-18del)
c.608-22_608-18del (n.608-22_608-18del)
c.583-22_583-18del
n.605-22_605-18del
Xg.111401349G>TCA2504522542DCXc.365-19C>A (n.365-19C>A)
c.608-19C>A (n.608-19C>A)
c.583-19C>A
n.605-19C>A
 gnomAD v4
Xg.111401351_111401353dupCA2739273741DCXc.365-22_365-20dup (n.365-22_365-20dup)
c.608-22_608-20dup (n.608-22_608-20dup)
c.583-22_583-20dup
n.605-22_605-20dup
 ClinVar
Xg.111401353A>CCA2694473338DCXc.365-23T>G (n.365-23T>G)
c.608-23T>G (n.608-23T>G)
c.583-23T>G
n.605-23T>G
 gnomAD v4
Xg.111401355G>ACA2514563095DCXc.365-25C>T (n.365-25C>T)
c.608-25C>T (n.608-25C>T)
c.583-25C>T
n.605-25C>T
Xg.111401355G>TCA2694473339DCXc.365-25C>A (n.365-25C>A)
c.608-25C>A (n.608-25C>A)
c.583-25C>A
n.605-25C>A
 gnomAD v4
Xg.111401358A>GCA2579680621DCXc.365-28T>C (n.365-28T>C)
c.608-28T>C (n.608-28T>C)
c.583-28T>C
n.605-28T>C
Xg.111401358A>TCA2579680622DCXc.365-28T>A (n.365-28T>A)
c.608-28T>A (n.608-28T>A)
c.583-28T>A
n.605-28T>A
 gnomAD v4
Xg.111401360T>ACA2694473340DCXc.365-30A>T (n.365-30A>T)
c.608-30A>T (n.608-30A>T)
c.583-30A>T
n.605-30A>T
 gnomAD v4
Xg.111401360T>CCA2694473341DCXc.365-30A>G (n.365-30A>G)
c.608-30A>G (n.608-30A>G)
c.583-30A>G
n.605-30A>G
 gnomAD v4
Xg.111401360T>GCA870061353DCXc.365-30A>C (n.365-30A>C)
c.608-30A>C (n.608-30A>C)
c.583-30A>C
n.605-30A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.111401360T=CA2451697295DCXc.365-30A= (n.365-30A=)
c.608-30A= (n.608-30A=)
c.583-30A=
n.605-30A=
Xg.111401361A=CA2451697296DCXc.365-31T= (n.365-31T=)
c.608-31T= (n.608-31T=)
c.583-31T=
n.605-31T=
Xg.111401361A>CCA10493329DCXc.365-31T>G (n.365-31T>G)
c.608-31T>G (n.608-31T>G)
c.583-31T>G
n.605-31T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401361A>GCA2694473342DCXc.365-31T>C (n.365-31T>C)
c.608-31T>C (n.608-31T>C)
c.583-31T>C
n.605-31T>C
 gnomAD v4
Xg.111401362G>ACA644064766DCXc.365-32C>T (n.365-32C>T)
c.608-32C>T (n.608-32C>T)
c.583-32C>T
n.605-32C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401362G=CA2451697297DCXc.365-32C= (n.365-32C=)
c.608-32C= (n.608-32C=)
c.583-32C=
n.605-32C=
Xg.111401362G>TCA2694473343DCXc.365-32C>A (n.365-32C>A)
c.608-32C>A (n.608-32C>A)
c.583-32C>A
n.605-32C>A
 gnomAD v4

Number of alleles fetched