Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70853248G>ACA355011TEX11c.405C>T (p.Ala135=)
c.450C>T (p.Ala150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853248G>CCA516759889TEX11c.405C>G (p.Ala135=)
c.450C>G (p.Ala150=)
Xg.70853248G=CA2436261268TEX11c.405C= (p.Ala135=)
c.450C= (p.Ala150=)
Xg.70853248G>TCA516759882TEX11c.405C>A (p.Ala135=)
c.450C>A (p.Ala150=)
 COSMIC COSMIC
Xg.70853249G>ACA413608017TEX11c.404C>T (p.Ala135Val)
c.449C>T (p.Ala150Val)
Xg.70853249G>CCA413608018TEX11c.404C>G (p.Ala135Gly)
c.449C>G (p.Ala150Gly)
Xg.70853249G>TCA413608019TEX11c.404C>A (p.Ala135Asp)
c.449C>A (p.Ala150Asp)
Xg.70853250C>ACA413608020TEX11c.403G>T (p.Ala135Ser)
c.448G>T (p.Ala150Ser)
Xg.70853250C>GCA413608022TEX11c.403G>C (p.Ala135Pro)
c.448G>C (p.Ala150Pro)
Xg.70853250C>TCA413608021TEX11c.403G>A (p.Ala135Thr)
c.448G>A (p.Ala150Thr)
 gnomAD v4
Xg.70853251C>ACA516759907TEX11c.402G>T (p.Val134=)
c.447G>T (p.Val149=)
Xg.70853251C>GCA516759906TEX11c.402G>C (p.Val134=)
c.447G>C (p.Val149=)
Xg.70853251C>TCA516759905TEX11c.402G>A (p.Val134=)
c.447G>A (p.Val149=)
Xg.70853252A>CCA413608023TEX11c.401T>G (p.Val134Gly)
c.446T>G (p.Val149Gly)
Xg.70853252A>GCA413608025TEX11c.401T>C (p.Val134Ala)
c.446T>C (p.Val149Ala)
Xg.70853252A>TCA413608024TEX11c.401T>A (p.Val134Glu)
c.446T>A (p.Val149Glu)
Xg.70853253C>ACA331002041TEX11c.400G>T (p.Val134Leu)
c.445G>T (p.Val149Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.70853253C=CA2436261269TEX11c.400G= (p.Val134=)
c.445G= (p.Val149=)
Xg.70853253C>GCA413608026TEX11c.400G>C (p.Val134Leu)
c.445G>C (p.Val149Leu)
 gnomAD v4
Xg.70853253C>TCA413608027TEX11c.400G>A (p.Val134Met)
c.445G>A (p.Val149Met)
Xg.70853254A=CA2436261270TEX11c.399T= (p.Ala133=)
c.444T= (p.Ala148=)
Xg.70853254A>CCA516759920TEX11c.399T>G (p.Ala133=)
c.444T>G (p.Ala148=)
Xg.70853254A>GCA10442914TEX11c.399T>C (p.Ala133=)
c.444T>C (p.Ala148=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853254A>TCA516759922TEX11c.399T>A (p.Ala133=)
c.444T>A (p.Ala148=)
Xg.70853255G>ACA413608028TEX11c.398C>T (p.Ala133Val)
c.443C>T (p.Ala148Val)
Xg.70853255G>CCA413608029TEX11c.398C>G (p.Ala133Gly)
c.443C>G (p.Ala148Gly)
Xg.70853255G>TCA413608030TEX11c.398C>A (p.Ala133Asp)
c.443C>A (p.Ala148Asp)
Xg.70853256C>ACA413608031TEX11c.397G>T (p.Ala133Ser)
c.442G>T (p.Ala148Ser)
Xg.70853256C>GCA413608032TEX11c.397G>C (p.Ala133Pro)
c.442G>C (p.Ala148Pro)
Xg.70853256C>TCA413608033TEX11c.397G>A (p.Ala133Thr)
c.442G>A (p.Ala148Thr)
Xg.70853257A=CA2436261271TEX11c.396T= (p.Ala132=)
c.441T= (p.Ala147=)
Xg.70853257A>CCA516759946TEX11c.396T>G (p.Ala132=)
c.441T>G (p.Ala147=)
Xg.70853257A>GCA516759949TEX11c.396T>C (p.Ala132=)
c.441T>C (p.Ala147=)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.70853257A>TCA516759953TEX11c.396T>A (p.Ala132=)
c.441T>A (p.Ala147=)
Xg.70853258G>ACA413608034TEX11c.395C>T (p.Ala132Val)
c.440C>T (p.Ala147Val)
Xg.70853258G>CCA413608035TEX11c.395C>G (p.Ala132Gly)
c.440C>G (p.Ala147Gly)
Xg.70853258G>TCA413608036TEX11c.395C>A (p.Ala132Asp)
c.440C>A (p.Ala147Asp)
Xg.70853259C>ACA413608039TEX11c.394G>T (p.Ala132Ser)
c.439G>T (p.Ala147Ser)
Xg.70853259C>GCA413608038TEX11c.394G>C (p.Ala132Pro)
c.439G>C (p.Ala147Pro)
Xg.70853259C>TCA413608037TEX11c.394G>A (p.Ala132Thr)
c.439G>A (p.Ala147Thr)
Xg.70853260T>ACA413608040TEX11c.393A>T (p.Gln131His)
c.438A>T (p.Gln146His)
Xg.70853260T>CCA516759972TEX11c.393A>G (p.Gln131=)
c.438A>G (p.Gln146=)
Xg.70853260T>GCA413608041TEX11c.393A>C (p.Gln131His)
c.438A>C (p.Gln146His)
Xg.70853261delCA2579637147TEX11c.393del (p.Ala132LeufsTer13)
c.438del (p.Ala147LeufsTer13)
Xg.70853261T>ACA413608042TEX11c.392A>T (p.Gln131Leu)
c.437A>T (p.Gln146Leu)
Xg.70853261T>CCA10442915TEX11c.392A>G (p.Gln131Arg)
c.437A>G (p.Gln146Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853261T>GCA413608043TEX11c.392A>C (p.Gln131Pro)
c.437A>C (p.Gln146Pro)
Xg.70853261T=CA2436261272TEX11c.392A= (p.Gln131=)
c.437A= (p.Gln146=)
Xg.70853262G>ACA413608044TEX11c.391C>T (p.Gln131Ter)
c.436C>T (p.Gln146Ter)
Xg.70853262G>CCA413608045TEX11c.391C>G (p.Gln131Glu)
c.436C>G (p.Gln146Glu)
Xg.70853262G>TCA413608046TEX11c.391C>A (p.Gln131Lys)
c.436C>A (p.Gln146Lys)
Xg.70853263A>CCA413608047TEX11c.390T>G (p.Phe130Leu)
c.435T>G (p.Phe145Leu)
Xg.70853263A>GCA516759996TEX11c.390T>C (p.Phe130=)
c.435T>C (p.Phe145=)
Xg.70853263A>TCA413608048TEX11c.390T>A (p.Phe130Leu)
c.435T>A (p.Phe145Leu)
Xg.70853264A>CCA413608049TEX11c.389T>G (p.Phe130Cys)
c.434T>G (p.Phe145Cys)
Xg.70853264A>GCA413608050TEX11c.389T>C (p.Phe130Ser)
c.434T>C (p.Phe145Ser)
Xg.70853264A>TCA413608051TEX11c.389T>A (p.Phe130Tyr)
c.434T>A (p.Phe145Tyr)
Xg.70853265A>CCA413608053TEX11c.388T>G (p.Phe130Val)
c.433T>G (p.Phe145Val)
Xg.70853265A>GCA413608054TEX11c.388T>C (p.Phe130Leu)
c.433T>C (p.Phe145Leu)
Xg.70853265A>TCA413608052TEX11c.388T>A (p.Phe130Ile)
c.433T>A (p.Phe145Ile)
Xg.70853266A=CA2436261273TEX11c.387T= (p.Cys129=)
c.432T= (p.Cys144=)
Xg.70853266A>CCA413608055TEX11c.387T>G (p.Cys129Trp)
c.432T>G (p.Cys144Trp)
Xg.70853266A>GCA10442916TEX11c.387T>C (p.Cys129=)
c.432T>C (p.Cys144=)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.70853266A>TCA413608056TEX11c.387T>A (p.Cys129Ter)
c.432T>A (p.Cys144Ter)
Xg.70853267C>ACA413608057TEX11c.386G>T (p.Cys129Phe)
c.431G>T (p.Cys144Phe)
Xg.70853267C>GCA413608058TEX11c.386G>C (p.Cys129Ser)
c.431G>C (p.Cys144Ser)
Xg.70853267C>TCA413608059TEX11c.386G>A (p.Cys129Tyr)
c.431G>A (p.Cys144Tyr)
Xg.70853268A>CCA413608060TEX11c.385T>G (p.Cys129Gly)
c.430T>G (p.Cys144Gly)
Xg.70853268A>GCA413608061TEX11c.385T>C (p.Cys129Arg)
c.430T>C (p.Cys144Arg)
Xg.70853268A>TCA413608062TEX11c.385T>A (p.Cys129Ser)
c.430T>A (p.Cys144Ser)
 gnomAD v4
Xg.70853269T>ACA413608063TEX11c.384A>T (p.Glu128Asp)
c.429A>T (p.Glu143Asp)
Xg.70853269T>CCA516760041TEX11c.384A>G (p.Glu128=)
c.429A>G (p.Glu143=)
Xg.70853269T>GCA413608064TEX11c.384A>C (p.Glu128Asp)
c.429A>C (p.Glu143Asp)
Xg.70853270T>ACA413608067TEX11c.383A>T (p.Glu128Val)
c.428A>T (p.Glu143Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853270T>CCA413608066TEX11c.383A>G (p.Glu128Gly)
c.428A>G (p.Glu143Gly)
Xg.70853270T>GCA413608065TEX11c.383A>C (p.Glu128Ala)
c.428A>C (p.Glu143Ala)
Xg.70853270T=CA2436261274TEX11c.383A= (p.Glu128=)
c.428A= (p.Glu143=)
Xg.70853271C>ACA413608068TEX11c.382G>T (p.Glu128Ter)
c.427G>T (p.Glu143Ter)
 COSMIC COSMIC
Xg.70853271C=CA2436261275TEX11c.382G= (p.Glu128=)
c.427G= (p.Glu143=)
Xg.70853271C>GCA413608069TEX11c.382G>C (p.Glu128Gln)
c.427G>C (p.Glu143Gln)
Xg.70853271C>TCA10442917TEX11c.382G>A (p.Glu128Lys)
c.427G>A (p.Glu143Lys)
 dbSNP ExAC
Xg.70853272A=CA2436261276TEX11c.381T= (p.Asp127=)
c.426T= (p.Asp142=)
Xg.70853272A>CCA413608070TEX11c.381T>G (p.Asp127Glu)
c.426T>G (p.Asp142Glu)
Xg.70853272A>GCA516760063TEX11c.381T>C (p.Asp127=)
c.426T>C (p.Asp142=)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853272A>TCA413608071TEX11c.381T>A (p.Asp127Glu)
c.426T>A (p.Asp142Glu)
Xg.70853273T>ACA413608072TEX11c.380A>T (p.Asp127Val)
c.425A>T (p.Asp142Val)
Xg.70853273T>CCA413608073TEX11c.380A>G (p.Asp127Gly)
c.425A>G (p.Asp142Gly)
Xg.70853273T>GCA413608074TEX11c.380A>C (p.Asp127Ala)
c.425A>C (p.Asp142Ala)
Xg.70853274delCA2579637148TEX11c.379del (p.Asp127MetfsTer18)
c.424del (p.Asp142MetfsTer18)
Xg.70853274C>ACA413608075TEX11c.379G>T (p.Asp127Tyr)
c.424G>T (p.Asp142Tyr)
Xg.70853274C>GCA413608076TEX11c.379G>C (p.Asp127His)
c.424G>C (p.Asp142His)
Xg.70853274C>TCA413608077TEX11c.379G>A (p.Asp127Asn)
c.424G>A (p.Asp142Asn)
Xg.70853275A>CCA516760080TEX11c.378T>G (p.Ala126=)
c.423T>G (p.Ala141=)
Xg.70853275A>GCA516760084TEX11c.378T>C (p.Ala126=)
c.423T>C (p.Ala141=)
Xg.70853275A>TCA516760086TEX11c.378T>A (p.Ala126=)
c.423T>A (p.Ala141=)
Xg.70853276G>ACA413608080TEX11c.377C>T (p.Ala126Val)
c.422C>T (p.Ala141Val)
Xg.70853276G>CCA413608079TEX11c.377C>G (p.Ala126Gly)
c.422C>G (p.Ala141Gly)
Xg.70853276G>TCA413608078TEX11c.377C>A (p.Ala126Asp)
c.422C>A (p.Ala141Asp)
 gnomAD v4
Xg.70853277C>ACA413608081TEX11c.376G>T (p.Ala126Ser)
c.421G>T (p.Ala141Ser)
Xg.70853277C=CA2436261277TEX11c.376G= (p.Ala126=)
c.421G= (p.Ala141=)
Xg.70853277C>GCA413608082TEX11c.376G>C (p.Ala126Pro)
c.421G>C (p.Ala141Pro)
Xg.70853277C>TCA10442918TEX11c.376G>A (p.Ala126Thr)
c.421G>A (p.Ala141Thr)
 dbSNP ExAC gnomAD v4
Xg.70853278G>ACA10442919TEX11c.375C>T (p.Ile125=)
c.420C>T (p.Ile140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853278G>CCA10442920TEX11c.375C>G (p.Ile125Met)
c.420C>G (p.Ile140Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853278G=CA2436261278TEX11c.375C= (p.Ile125=)
c.420C= (p.Ile140=)
Xg.70853278G>TCA516760110TEX11c.375C>A (p.Ile125=)
c.420C>A (p.Ile140=)
Xg.70853279A>CCA413608083TEX11c.374T>G (p.Ile125Ser)
c.419T>G (p.Ile140Ser)
Xg.70853279A>GCA413608084TEX11c.374T>C (p.Ile125Thr)
c.419T>C (p.Ile140Thr)
Xg.70853279A>TCA413608085TEX11c.374T>A (p.Ile125Asn)
c.419T>A (p.Ile140Asn)
Xg.70853280T>ACA413608086TEX11c.373A>T (p.Ile125Phe)
c.418A>T (p.Ile140Phe)
Xg.70853280T>CCA413608087TEX11c.373A>G (p.Ile125Val)
c.418A>G (p.Ile140Val)
Xg.70853280T>GCA413608088TEX11c.373A>C (p.Ile125Leu)
c.418A>C (p.Ile140Leu)
Xg.70853281T>ACA516760129TEX11c.372A>T (p.Leu124=)
c.417A>T (p.Leu139=)
Xg.70853281T>CCA516760131TEX11c.372A>G (p.Leu124=)
c.417A>G (p.Leu139=)
Xg.70853281T>GCA516760133TEX11c.372A>C (p.Leu124=)
c.417A>C (p.Leu139=)
Xg.70853282A>CCA413608089TEX11c.371T>G (p.Leu124Arg)
c.416T>G (p.Leu139Arg)
Xg.70853282A>GCA413608090TEX11c.371T>C (p.Leu124Pro)
c.416T>C (p.Leu139Pro)
 gnomAD v4
Xg.70853282A>TCA413608091TEX11c.371T>A (p.Leu124Gln)
c.416T>A (p.Leu139Gln)
Xg.70853283G>ACA516760145TEX11c.370C>T (p.Leu124=)
c.415C>T (p.Leu139=)
Xg.70853283G>CCA413608092TEX11c.370C>G (p.Leu124Val)
c.415C>G (p.Leu139Val)
Xg.70853283G=CA2436261279TEX11c.370C= (p.Leu124=)
c.415C= (p.Leu139=)
Xg.70853283G>TCA413608093TEX11c.370C>A (p.Leu124Ile)
c.415C>A (p.Leu139Ile)
 dbSNP
Xg.70853284A>CCA413608094TEX11c.369T>G (p.Phe123Leu)
c.414T>G (p.Phe138Leu)
Xg.70853284A>GCA516760152TEX11c.369T>C (p.Phe123=)
c.414T>C (p.Phe138=)
Xg.70853284A>TCA413608095TEX11c.369T>A (p.Phe123Leu)
c.414T>A (p.Phe138Leu)
Xg.70853285A>CCA413608096TEX11c.368T>G (p.Phe123Cys)
c.413T>G (p.Phe138Cys)
Xg.70853285A>GCA413608097TEX11c.368T>C (p.Phe123Ser)
c.413T>C (p.Phe138Ser)
Xg.70853285A>TCA413608098TEX11c.368T>A (p.Phe123Tyr)
c.413T>A (p.Phe138Tyr)
Xg.70853286A>CCA413608099TEX11c.367T>G (p.Phe123Val)
c.412T>G (p.Phe138Val)
Xg.70853286A>GCA413608100TEX11c.367T>C (p.Phe123Leu)
c.412T>C (p.Phe138Leu)
Xg.70853286A>TCA413608101TEX11c.367T>A (p.Phe123Ile)
c.412T>A (p.Phe138Ile)
Xg.70853287A>CCA413608102TEX11c.366T>G (p.Asn122Lys)
c.411T>G (p.Asn137Lys)
Xg.70853287A>GCA516760183TEX11c.366T>C (p.Asn122=)
c.411T>C (p.Asn137=)
Xg.70853287A>TCA413608103TEX11c.366T>A (p.Asn122Lys)
c.411T>A (p.Asn137Lys)
Xg.70853288T>ACA413608104TEX11c.365A>T (p.Asn122Ile)
c.410A>T (p.Asn137Ile)
Xg.70853288T>CCA413608105TEX11c.365A>G (p.Asn122Ser)
c.410A>G (p.Asn137Ser)
 gnomAD v4
Xg.70853288T>GCA10442921TEX11c.365A>C (p.Asn122Thr)
c.410A>C (p.Asn137Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853288T=CA2436261280TEX11c.365A= (p.Asn122=)
c.410A= (p.Asn137=)
Xg.70853289T>ACA413608108TEX11c.364A>T (p.Asn122Tyr)
c.409A>T (p.Asn137Tyr)
Xg.70853289T>CCA413608107TEX11c.364A>G (p.Asn122Asp)
c.409A>G (p.Asn137Asp)
Xg.70853289T>GCA413608106TEX11c.364A>C (p.Asn122His)
c.409A>C (p.Asn137His)
Xg.70853290T>ACA516760208TEX11c.363A>T (p.Gly121=)
c.408A>T (p.Gly136=)
Xg.70853290T>CCA516760210TEX11c.363A>G (p.Gly121=)
c.408A>G (p.Gly136=)
Xg.70853290T>GCA516760205TEX11c.363A>C (p.Gly121=)
c.408A>C (p.Gly136=)
Xg.70853291C>ACA413608109TEX11c.362G>T (p.Gly121Val)
c.407G>T (p.Gly136Val)
Xg.70853291C>GCA413608110TEX11c.362G>C (p.Gly121Ala)
c.407G>C (p.Gly136Ala)
Xg.70853291C>TCA413608111TEX11c.362G>A (p.Gly121Glu)
c.407G>A (p.Gly136Glu)
Xg.70853292C>ACA413608112TEX11c.361G>T (p.Gly121Ter)
c.406G>T (p.Gly136Ter)
Xg.70853292C>GCA413608113TEX11c.361G>C (p.Gly121Arg)
c.406G>C (p.Gly136Arg)
Xg.70853292C>TCA413608114TEX11c.361G>A (p.Gly121Arg)
c.406G>A (p.Gly136Arg)
 gnomAD v4
Xg.70853293A>CCA516760239TEX11c.360T>G (p.Ala120=)
c.405T>G (p.Ala135=)
Xg.70853293A>GCA516760230TEX11c.360T>C (p.Ala120=)
c.405T>C (p.Ala135=)
Xg.70853293A>TCA516760234TEX11c.360T>A (p.Ala120=)
c.405T>A (p.Ala135=)
Xg.70853294G>ACA413608117TEX11c.359C>T (p.Ala120Val)
c.404C>T (p.Ala135Val)
 COSMIC COSMIC
Xg.70853294G>CCA413608115TEX11c.359C>G (p.Ala120Gly)
c.404C>G (p.Ala135Gly)
Xg.70853294G>TCA413608116TEX11c.359C>A (p.Ala120Asp)
c.404C>A (p.Ala135Asp)
Xg.70853295C>ACA413608118TEX11c.358G>T (p.Ala120Ser)
c.403G>T (p.Ala135Ser)
Xg.70853295C>GCA413608119TEX11c.358G>C (p.Ala120Pro)
c.403G>C (p.Ala135Pro)
Xg.70853295C>TCA413608120TEX11c.358G>A (p.Ala120Thr)
c.403G>A (p.Ala135Thr)
Xg.70853296A>CCA413608121TEX11c.357T>G (p.Asp119Glu)
c.402T>G (p.Asp134Glu)
Xg.70853296A>GCA516760262TEX11c.357T>C (p.Asp119=)
c.402T>C (p.Asp134=)
Xg.70853296A>TCA413608122TEX11c.357T>A (p.Asp119Glu)
c.402T>A (p.Asp134Glu)
Xg.70853297T>ACA413608123TEX11c.356A>T (p.Asp119Val)
c.401A>T (p.Asp134Val)
Xg.70853297T>CCA413608125TEX11c.356A>G (p.Asp119Gly)
c.401A>G (p.Asp134Gly)
Xg.70853297T>GCA413608124TEX11c.356A>C (p.Asp119Ala)
c.401A>C (p.Asp134Ala)
Xg.70853298C>ACA413608126TEX11c.355G>T (p.Asp119Tyr)
c.400G>T (p.Asp134Tyr)
Xg.70853298C>GCA413608127TEX11c.355G>C (p.Asp119His)
c.400G>C (p.Asp134His)
Xg.70853298C>TCA413608128TEX11c.355G>A (p.Asp119Asn)
c.400G>A (p.Asp134Asn)
Xg.70853299C>ACA413608129TEX11c.354G>T (p.Leu118Phe)
c.399G>T (p.Leu133Phe)
Xg.70853299C>GCA413608130TEX11c.354G>C (p.Leu118Phe)
c.399G>C (p.Leu133Phe)
Xg.70853299C>TCA516760299TEX11c.354G>A (p.Leu118=)
c.399G>A (p.Leu133=)
Xg.70853300A>CCA413608131TEX11c.353T>G (p.Leu118Trp)
c.398T>G (p.Leu133Trp)
Xg.70853300A>GCA413608132TEX11c.353T>C (p.Leu118Ser)
c.398T>C (p.Leu133Ser)
Xg.70853300A>TCA413608133TEX11c.353T>A (p.Leu118Ter)
c.398T>A (p.Leu133Ter)
Xg.70853301A>CCA413608134TEX11c.352T>G (p.Leu118Val)
c.397T>G (p.Leu133Val)
Xg.70853301A>GCA516760325TEX11c.352T>C (p.Leu118=)
c.397T>C (p.Leu133=)
 gnomAD v4
Xg.70853301A>TCA413608135TEX11c.352T>A (p.Leu118Met)
c.397T>A (p.Leu133Met)
Xg.70853302C>ACA413608138TEX11c.351G>T (p.Trp117Cys)
c.396G>T (p.Trp132Cys)
Xg.70853302C>GCA413608137TEX11c.351G>C (p.Trp117Cys)
c.396G>C (p.Trp132Cys)
Xg.70853302C>TCA413608136TEX11c.351G>A (p.Trp117Ter)
c.396G>A (p.Trp132Ter)
Xg.70853303C>ACA413608139TEX11c.350G>T (p.Trp117Leu)
c.395G>T (p.Trp132Leu)
 gnomAD v4
Xg.70853303C>GCA413608141TEX11c.350G>C (p.Trp117Ser)
c.395G>C (p.Trp132Ser)
Xg.70853303C>TCA413608140TEX11c.350G>A (p.Trp117Ter)
c.395G>A (p.Trp132Ter)
Xg.70853304A>CCA413608142TEX11c.349T>G (p.Trp117Gly)
c.394T>G (p.Trp132Gly)
Xg.70853304A>GCA413608144TEX11c.349T>C (p.Trp117Arg)
c.394T>C (p.Trp132Arg)
Xg.70853304A>TCA413608143TEX11c.349T>A (p.Trp117Arg)
c.394T>A (p.Trp132Arg)
 gnomAD v4
Xg.70853305T>ACA413608145TEX11c.348A>T (p.Glu116Asp)
c.393A>T (p.Glu131Asp)
 dbSNP
Xg.70853305T>CCA516760337TEX11c.348A>G (p.Glu116=)
c.393A>G (p.Glu131=)
Xg.70853305T>GCA413608146TEX11c.348A>C (p.Glu116Asp)
c.393A>C (p.Glu131Asp)
Xg.70853305T=CA2436261281TEX11c.348A= (p.Glu116=)
c.393A= (p.Glu131=)
Xg.70853306T>ACA413608147TEX11c.347A>T (p.Glu116Val)
c.392A>T (p.Glu131Val)
Xg.70853306T>CCA413608148TEX11c.347A>G (p.Glu116Gly)
c.392A>G (p.Glu131Gly)
Xg.70853306T>GCA413608149TEX11c.347A>C (p.Glu116Ala)
c.392A>C (p.Glu131Ala)
Xg.70853307C>ACA413608150TEX11c.346G>T (p.Glu116Ter)
c.391G>T (p.Glu131Ter)
 COSMIC COSMIC
Xg.70853307C=CA2436261282TEX11c.346G= (p.Glu116=)
c.391G= (p.Glu131=)
Xg.70853307C>GCA413608151TEX11c.346G>C (p.Glu116Gln)
c.391G>C (p.Glu131Gln)
Xg.70853307C>TCA413608152TEX11c.346G>A (p.Glu116Lys)
c.391G>A (p.Glu131Lys)
 dbSNP COSMIC COSMIC
Xg.70853308T>ACA413608153TEX11c.345A>T (p.Lys115Asn)
c.390A>T (p.Lys130Asn)
Xg.70853308T>CCA516760354TEX11c.345A>G (p.Lys115=)
c.390A>G (p.Lys130=)
Xg.70853308T>GCA413608154TEX11c.345A>C (p.Lys115Asn)
c.390A>C (p.Lys130Asn)
Xg.70853311delCA2531285319TEX11c.345del (p.Glu116AsnfsTer9)
c.390del (p.Glu131AsnfsTer9)
Xg.70853309T>ACA413608155TEX11c.344A>T (p.Lys115Ile)
c.389A>T (p.Lys130Ile)
Xg.70853309T>CCA10442922TEX11c.344A>G (p.Lys115Arg)
c.389A>G (p.Lys130Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853309T>GCA413608156TEX11c.344A>C (p.Lys115Thr)
c.389A>C (p.Lys130Thr)
Xg.70853309T=CA2436261283TEX11c.344A= (p.Lys115=)
c.389A= (p.Lys130=)
Xg.70853310T>ACA413608159TEX11c.343A>T (p.Lys115Ter)
c.388A>T (p.Lys130Ter)
Xg.70853310T>CCA413608157TEX11c.343A>G (p.Lys115Glu)
c.388A>G (p.Lys130Glu)
Xg.70853310T>GCA413608158TEX11c.343A>C (p.Lys115Gln)
c.388A>C (p.Lys130Gln)
Xg.70853311T>ACA516760367TEX11c.342A>T (p.Gly114=)
c.387A>T (p.Gly129=)
Xg.70853311T>CCA516760366TEX11c.342A>G (p.Gly114=)
c.387A>G (p.Gly129=)
 dbSNP
Xg.70853311T>GCA516760364TEX11c.342A>C (p.Gly114=)
c.387A>C (p.Gly129=)
Xg.70853311T=CA2436261284TEX11c.342A= (p.Gly114=)
c.387A= (p.Gly129=)
Xg.70853312C>ACA413608160TEX11c.341G>T (p.Gly114Val)
c.386G>T (p.Gly129Val)
Xg.70853312C>GCA413608161TEX11c.341G>C (p.Gly114Ala)
c.386G>C (p.Gly129Ala)
Xg.70853312C>TCA413608162TEX11c.341G>A (p.Gly114Glu)
c.386G>A (p.Gly129Glu)
 COSMIC COSMIC
Xg.70853313C>ACA413608163TEX11c.340G>T (p.Gly114Ter)
c.385G>T (p.Gly129Ter)
Xg.70853313C>GCA413608164TEX11c.340G>C (p.Gly114Arg)
c.385G>C (p.Gly129Arg)
Xg.70853313C>TCA413608165TEX11c.340G>A (p.Gly114Arg)
c.385G>A (p.Gly129Arg)
Xg.70853314T>ACA516760397TEX11c.339A>T (p.Ile113=)
c.384A>T (p.Ile128=)
Xg.70853314T>CCA413608166TEX11c.339A>G (p.Ile113Met)
c.384A>G (p.Ile128Met)
Xg.70853314T>GCA516760400TEX11c.339A>C (p.Ile113=)
c.384A>C (p.Ile128=)
Xg.70853315A>CCA413608167TEX11c.338T>G (p.Ile113Arg)
c.383T>G (p.Ile128Arg)
Xg.70853315A>GCA413608168TEX11c.338T>C (p.Ile113Thr)
c.383T>C (p.Ile128Thr)
Xg.70853315A>TCA413608169TEX11c.338T>A (p.Ile113Lys)
c.383T>A (p.Ile128Lys)
Xg.70853316T>ACA331002042TEX11c.337A>T (p.Ile113Leu)
c.382A>T (p.Ile128Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853316T>CCA413608171TEX11c.337A>G (p.Ile113Val)
c.382A>G (p.Ile128Val)
Xg.70853316T>GCA413608170TEX11c.337A>C (p.Ile113Leu)
c.382A>C (p.Ile128Leu)
Xg.70853316T=CA2436261285TEX11c.337A= (p.Ile113=)
c.382A= (p.Ile128=)
Xg.70853317T>ACA413608172TEX11c.336A>T (p.Arg112Ser)
c.381A>T (p.Arg127Ser)
Xg.70853317T>CCA516760412TEX11c.336A>G (p.Arg112=)
c.381A>G (p.Arg127=)
Xg.70853317T>GCA413608173TEX11c.336A>C (p.Arg112Ser)
c.381A>C (p.Arg127Ser)
Xg.70853318C>ACA413608174TEX11c.335G>T (p.Arg112Ile)
c.380G>T (p.Arg127Ile)
Xg.70853318C>GCA413608175TEX11c.335G>C (p.Arg112Thr)
c.380G>C (p.Arg127Thr)
Xg.70853318C>TCA413608176TEX11c.335G>A (p.Arg112Lys)
c.380G>A (p.Arg127Lys)
Xg.70853319T>ACA413608178TEX11c.334A>T (p.Arg112Ter)
c.379A>T (p.Arg127Ter)
Xg.70853319T>CCA413608177TEX11c.334A>G (p.Arg112Gly)
c.379A>G (p.Arg127Gly)
 dbSNP
Xg.70853319T>GCA516760428TEX11c.334A>C (p.Arg112=)
c.379A>C (p.Arg127=)
Xg.70853319T=CA2436261286TEX11c.334A= (p.Arg112=)
c.379A= (p.Arg127=)
Xg.70853320C>ACA413608179TEX11c.333G>T (p.Met111Ile)
c.378G>T (p.Met126Ile)
Xg.70853320C>GCA413608180TEX11c.333G>C (p.Met111Ile)
c.378G>C (p.Met126Ile)
Xg.70853320C>TCA413608181TEX11c.333G>A (p.Met111Ile)
c.378G>A (p.Met126Ile)
 gnomAD v4 COSMIC COSMIC
Xg.70853321A>CCA413608182TEX11c.332T>G (p.Met111Arg)
c.377T>G (p.Met126Arg)
 gnomAD v4
Xg.70853321A>GCA413608183TEX11c.332T>C (p.Met111Thr)
c.377T>C (p.Met126Thr)
 gnomAD v4
Xg.70853321A>TCA413608184TEX11c.332T>A (p.Met111Lys)
c.377T>A (p.Met126Lys)
 COSMIC COSMIC
Xg.70853322T>ACA413608185TEX11c.331A>T (p.Met111Leu)
c.376A>T (p.Met126Leu)
Xg.70853322T>CCA413608187TEX11c.331A>G (p.Met111Val)
c.376A>G (p.Met126Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853322T>GCA413608186TEX11c.331A>C (p.Met111Leu)
c.376A>C (p.Met126Leu)
Xg.70853322T=CA2436261287TEX11c.331A= (p.Met111=)
c.376A= (p.Met126=)
Xg.70853323A>CCA413608188TEX11c.330T>G (p.Asn110Lys)
c.375T>G (p.Asn125Lys)
Xg.70853323A>GCA516760448TEX11c.330T>C (p.Asn110=)
c.375T>C (p.Asn125=)
 gnomAD v4
Xg.70853323A>TCA413608189TEX11c.330T>A (p.Asn110Lys)
c.375T>A (p.Asn125Lys)
Xg.70853324T>ACA413608190TEX11c.329A>T (p.Asn110Ile)
c.374A>T (p.Asn125Ile)
Xg.70853324T>CCA413608191TEX11c.329A>G (p.Asn110Ser)
c.374A>G (p.Asn125Ser)
Xg.70853324T>GCA413608192TEX11c.329A>C (p.Asn110Thr)
c.374A>C (p.Asn125Thr)
Xg.70853325T>ACA413608193TEX11c.328A>T (p.Asn110Tyr)
c.373A>T (p.Asn125Tyr)
 dbSNP gnomAD v3 gnomAD v4
Xg.70853325T>CCA413608194TEX11c.328A>G (p.Asn110Asp)
c.373A>G (p.Asn125Asp)
Xg.70853325T>GCA413608195TEX11c.328A>C (p.Asn110His)
c.373A>C (p.Asn125His)
Xg.70853325T=CA2436261288TEX11c.328A= (p.Asn110=)
c.373A= (p.Asn125=)
Xg.70853326C>ACA413608196TEX11c.327G>T (p.Met109Ile)
c.372G>T (p.Met124Ile)
Xg.70853326C>GCA413608197TEX11c.327G>C (p.Met109Ile)
c.372G>C (p.Met124Ile)
Xg.70853326C>TCA413608198TEX11c.327G>A (p.Met109Ile)
c.372G>A (p.Met124Ile)
 ClinVar gnomAD v4
Xg.70853327A>CCA413608200TEX11c.326T>G (p.Met109Arg)
c.371T>G (p.Met124Arg)
Xg.70853327A>GCA413608201TEX11c.326T>C (p.Met109Thr)
c.371T>C (p.Met124Thr)
 gnomAD v4
Xg.70853327A>TCA413608199TEX11c.326T>A (p.Met109Lys)
c.371T>A (p.Met124Lys)
Xg.70853328T>ACA413608204TEX11c.325A>T (p.Met109Leu)
c.370A>T (p.Met124Leu)
Xg.70853328T>CCA413608202TEX11c.325A>G (p.Met109Val)
c.370A>G (p.Met124Val)
 gnomAD v4
Xg.70853328T>GCA413608203TEX11c.325A>C (p.Met109Leu)
c.370A>C (p.Met124Leu)
Xg.70853329C>ACA413608205TEX11c.325-1G>T (n.325-1G>T)
c.370-1G>T (n.370-1G>T)
Xg.70853329C=CA2436261289TEX11c.325-1G= (n.325-1G=)
c.370-1G= (n.370-1G=)
Xg.70853329C>GCA413608206TEX11c.325-1G>C (n.325-1G>C)
c.370-1G>C (n.370-1G>C)
Xg.70853329C>TCA331002043TEX11c.325-1G>A (n.325-1G>A)
c.370-1G>A (n.370-1G>A)
 dbSNP COSMIC COSMIC
Xg.70853330T>ACA413608207TEX11c.325-2A>T (n.325-2A>T)
c.370-2A>T (n.370-2A>T)
Xg.70853330T>CCA413608208TEX11c.325-2A>G (n.325-2A>G)
c.370-2A>G (n.370-2A>G)
Xg.70853330T>GCA413608209TEX11c.325-2A>C (n.325-2A>C)
c.370-2A>C (n.370-2A>C)
Xg.70853331A>GCA2694012977TEX11c.325-3T>C (n.325-3T>C)
c.370-3T>C (n.370-3T>C)
 gnomAD v4
Xg.70853332G>CCA10442923TEX11c.325-4C>G (n.325-4C>G)
c.370-4C>G (n.370-4C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853332G=CA2436261290TEX11c.325-4C= (n.325-4C=)
c.370-4C= (n.370-4C=)
Xg.70853332G>TCA2694012978TEX11c.325-4C>A (n.325-4C>A)
c.370-4C>A (n.370-4C>A)
 gnomAD v4
Xg.70853333A>GCA2694012979TEX11c.325-5T>C (n.325-5T>C)
c.370-5T>C (n.370-5T>C)
 gnomAD v4
Xg.70853335G>TCA2694012980TEX11c.325-7C>A (n.325-7C>A)
c.370-7C>A (n.370-7C>A)
 gnomAD v4
Xg.70853336A=CA2436261291TEX11c.325-8T= (n.325-8T=)
c.370-8T= (n.370-8T=)
Xg.70853336A>GCA10442924TEX11c.325-8T>C (n.325-8T>C)
c.370-8T>C (n.370-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853337G>CCA642470376TEX11c.325-9C>G (n.325-9C>G)
c.370-9C>G (n.370-9C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853337G=CA2436261292TEX11c.325-9C= (n.325-9C=)
c.370-9C= (n.370-9C=)
Xg.70853338A=CA2436261293TEX11c.325-10T= (n.325-10T=)
c.370-10T= (n.370-10T=)
Xg.70853338A>GCA642470377TEX11c.325-10T>C (n.325-10T>C)
c.370-10T>C (n.370-10T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853339G>CCA642470378TEX11c.325-11C>G (n.325-11C>G)
c.370-11C>G (n.370-11C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.70853339G=CA2436261294TEX11c.325-11C= (n.325-11C=)
c.370-11C= (n.370-11C=)
Xg.70853339G>TCA10442925TEX11c.325-11C>A (n.325-11C>A)
c.370-11C>A (n.370-11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70853341A>CCA2694012981TEX11c.325-13T>G (n.325-13T>G)
c.370-13T>G (n.370-13T>G)
 gnomAD v4
Xg.70853345A=CA2436261295TEX11c.325-17T= (n.325-17T=)
c.370-17T= (n.370-17T=)
Xg.70853345A>GCA10442926TEX11c.325-17T>C (n.325-17T>C)
c.370-17T>C (n.370-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70853348A=CA2436261296TEX11c.325-20T= (n.325-20T=)
c.370-20T= (n.370-20T=)
Xg.70853348A>GCA2436261297TEX11c.325-20T>C (n.325-20T>C)
c.370-20T>C (n.370-20T>C)
 dbSNP

Number of alleles fetched