Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.6718238delCA2587880773C3n.494+13del
c.310+13del (n.310+13del)
c.433+13del (n.433+13del)
gnomAD v4
19g.6718235_6718239dupCA631663348C3n.494+8_494+12dup
c.310+8_310+12dup (n.310+8_310+12dup)
c.433+8_433+12dup (n.433+8_433+12dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6718236C=CA2320570588C3n.494+11G=
c.310+11G= (n.310+11G=)
c.433+11G= (n.433+11G=)
19g.6718236C>GCA2320570589C3n.494+11G>C
c.310+11G>C (n.310+11G>C)
c.433+11G>C (n.433+11G>C)
dbSNP gnomAD v4
19g.6718236C>TCA9129833C3n.494+11G>A
c.310+11G>A (n.310+11G>A)
c.433+11G>A (n.433+11G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.6718237C>ACA631663350C3n.494+10G>T
c.310+10G>T (n.310+10G>T)
c.433+10G>T (n.433+10G>T)
dbSNP gnomAD v2 gnomAD v4
19g.6718237C=CA2320570590C3n.494+10G=
c.310+10G= (n.310+10G=)
c.433+10G= (n.433+10G=)
19g.6718237C>TCA631663349C3n.494+10G>A
c.310+10G>A (n.310+10G>A)
c.433+10G>A (n.433+10G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6718238C>GCA2587880774C3n.494+9G>C
c.310+9G>C (n.310+9G>C)
c.433+9G>C (n.433+9G>C)
gnomAD v4
19g.6718238C>TCA2813446907C3n.494+9G>A
c.310+9G>A (n.310+9G>A)
c.433+9G>A (n.433+9G>A)
19g.6718239_6718240insACACACA2813446906C3n.494+9_494+10insTGTTG
c.310+9_310+10insTGTTG (n.310+9_310+10insTGTTG)
c.433+9_433+10insTGTTG (n.433+9_433+10insTGTTG)
19g.6718240G>ACA2320570592C3n.494+7C>T
c.310+7C>T (n.310+7C>T)
c.433+7C>T (n.433+7C>T)
dbSNP gnomAD v4
19g.6718240G>CCA2320570593C3n.494+7C>G
c.310+7C>G (n.310+7C>G)
c.433+7C>G (n.433+7C>G)
dbSNP gnomAD v4
19g.6718240G=CA2320570591C3n.494+7C=
c.310+7C= (n.310+7C=)
c.433+7C= (n.433+7C=)
19g.6718240_6718241insACCA2320570594C3n.494+6_494+7insGT
c.310+6_310+7insGT (n.310+6_310+7insGT)
c.433+6_433+7insGT (n.433+6_433+7insGT)
dbSNP
19g.6718241C>ACA2813446908C3n.494+6G>T
c.310+6G>T (n.310+6G>T)
c.433+6G>T (n.433+6G>T)
19g.6718242C>ACA2587880775C3n.494+5G>T
c.310+5G>T (n.310+5G>T)
c.433+5G>T (n.433+5G>T)
gnomAD v4
19g.6718242C>TCA2587880776C3n.494+5G>A
c.310+5G>A (n.310+5G>A)
c.433+5G>A (n.433+5G>A)
gnomAD v4
19g.6718242_6718243insAAACACACCCAACCA2813446909C3n.494+5_494+6insTTGGGTGTGTTTG
c.310+5_310+6insTTGGGTGTGTTTG (n.310+5_310+6insTTGGGTGTGTTTG)
c.433+5_433+6insTTGGGTGTGTTTG (n.433+5_433+6insTTGGGTGTGTTTG)
19g.6718243T>ACA2813446910C3n.494+4A>T
c.310+4A>T (n.310+4A>T)
c.433+4A>T (n.433+4A>T)
19g.6718243T>CCA2320570596C3n.494+4A>G
c.310+4A>G (n.310+4A>G)
c.433+4A>G (n.433+4A>G)
dbSNP gnomAD v4
19g.6718243T=CA2320570595C3n.494+4A=
c.310+4A= (n.310+4A=)
c.433+4A= (n.433+4A=)
19g.6718244C=CA2320570597C3n.494+3G=
c.310+3G= (n.310+3G=)
c.433+3G= (n.433+3G=)
19g.6718244C>GCA304803450C3n.494+3G>C
c.310+3G>C (n.310+3G>C)
c.433+3G>C (n.433+3G>C)
dbSNP
19g.6718244C>TCA645620607C3n.494+3G>A
c.310+3G>A (n.310+3G>A)
c.433+3G>A (n.433+3G>A)
COSMIC
19g.6718245A>CCA403645014C3n.494+2T>G
c.310+2T>G (n.310+2T>G)
c.433+2T>G (n.433+2T>G)
19g.6718245A>GCA403645015C3n.494+2T>C
c.310+2T>C (n.310+2T>C)
c.433+2T>C (n.433+2T>C)
19g.6718245A>TCA403645016C3n.494+2T>A
c.310+2T>A (n.310+2T>A)
c.433+2T>A (n.433+2T>A)
19g.6718246C>ACA304803459C3n.494+1G>T
c.310+1G>T (n.310+1G>T)
c.433+1G>T (n.433+1G>T)
dbSNP
19g.6718246C=CA2320570598C3n.494+1G=
c.310+1G= (n.310+1G=)
c.433+1G= (n.433+1G=)
19g.6718246C>GCA304803467C3n.494+1G>C
c.310+1G>C (n.310+1G>C)
c.433+1G>C (n.433+1G>C)
dbSNP
19g.6718246C>TCA403645017C3n.494+1G>A
c.310+1G>A (n.310+1G>A)
c.433+1G>A (n.433+1G>A)
19g.6718247C>ACA403645019C3n.494G>T
c.310G>T (p.Val104Phe)
c.433G>T (p.Val145Phe)
c.310G>T
19g.6718247C=CA2320570599C3n.494G=
c.310G= (p.Val104=)
c.433G= (p.Val145=)
c.310G=
19g.6718247C>GCA403645018C3n.494G>C
c.310G>C (p.Val104Leu)
c.433G>C (p.Val145Leu)
c.310G>C
19g.6718247C>TCA9129834C3n.494G>A
c.310G>A (p.Val104Ile)
c.433G>A (p.Val145Ile)
c.310G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6718247_6718248insCAACACCA2813446911C3n.494_494+1insTGTTGG
c.310_310+1insTGTTGG (p.Val104_Leu105insLeuVal)
c.433_433+1insTGTTGG (p.Val145_Leu146insLeuVal)
19g.6718248T>ACA505125124C3n.493A>T
c.309A>T (p.Thr103=)
c.432A>T (p.Thr144=)
19g.6718248T>CCA505125125C3n.493A>G
c.309A>G (p.Thr103=)
c.432A>G (p.Thr144=)
dbSNP gnomAD v4
19g.6718248T>GCA505125126C3n.493A>C
c.309A>C (p.Thr103=)
c.432A>C (p.Thr144=)
19g.6718248T=CA2320570600C3n.493A=
c.309A= (p.Thr103=)
c.432A= (p.Thr144=)
19g.6718249G>ACA403645020C3n.492C>T
c.308C>T (p.Thr103Ile)
c.431C>T (p.Thr144Ile)
19g.6718249G>CCA403645021C3n.492C>G
c.308C>G (p.Thr103Arg)
c.431C>G (p.Thr144Arg)
19g.6718249G>TCA403645022C3n.492C>A
c.308C>A (p.Thr103Lys)
c.431C>A (p.Thr144Lys)
19g.6718250T>ACA403645023C3n.491A>T
c.307A>T (p.Thr103Ser)
c.430A>T (p.Thr144Ser)
gnomAD v4
19g.6718250T>CCA403645024C3n.491A>G
c.307A>G (p.Thr103Ala)
c.430A>G (p.Thr144Ala)
19g.6718250T>GCA403645025C3n.491A>C
c.307A>C (p.Thr103Pro)
c.430A>C (p.Thr144Pro)
19g.6718251G>ACA505125127C3n.490C>T
c.306C>T (p.Ser102=)
c.429C>T (p.Ser143=)
19g.6718251G>CCA505125128C3n.490C>G
c.306C>G (p.Ser102=)
c.429C>G (p.Ser143=)
19g.6718251G>TCA505125129C3n.490C>A
c.306C>A (p.Ser102=)
c.429C>A (p.Ser143=)
19g.6718252G>ACA403645026C3n.489C>T
c.305C>T (p.Ser102Phe)
c.428C>T (p.Ser143Phe)
19g.6718252G>CCA403645027C3n.489C>G
c.305C>G (p.Ser102Cys)
c.428C>G (p.Ser143Cys)
19g.6718252G>TCA403645028C3n.489C>A
c.305C>A (p.Ser102Tyr)
c.428C>A (p.Ser143Tyr)
19g.6718253A=CA2320570601C3n.488T=
c.304T= (p.Ser102=)
c.427T= (p.Ser143=)
19g.6718253A>CCA9129835C3n.488T>G
c.304T>G (p.Ser102Ala)
c.427T>G (p.Ser143Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.6718253A>GCA403645029C3n.488T>C
c.304T>C (p.Ser102Pro)
c.427T>C (p.Ser143Pro)
19g.6718253A>TCA403645030C3n.488T>A
c.304T>A (p.Ser102Thr)
c.427T>A (p.Ser143Thr)
19g.6718254G>ACA304803497C3n.487C>T
c.303C>T (p.Gly101=)
c.426C>T (p.Gly142=)
dbSNP gnomAD v4
19g.6718254G>CCA505125130C3n.487C>G
c.303C>G (p.Gly101=)
c.426C>G (p.Gly142=)
19g.6718254G=CA2320570602C3n.487C=
c.303C= (p.Gly101=)
c.426C= (p.Gly142=)
19g.6718254G>TCA505125131C3n.487C>A
c.303C>A (p.Gly101=)
c.426C>A (p.Gly142=)
19g.6718255C>ACA403645031C3n.486G>T
c.302G>T (p.Gly101Val)
c.425G>T (p.Gly142Val)
19g.6718255C=CA2320570603C3n.486G=
c.302G= (p.Gly101=)
c.425G= (p.Gly142=)
19g.6718255C>GCA403645033C3n.486G>C
c.302G>C (p.Gly101Ala)
c.425G>C (p.Gly142Ala)
19g.6718255C>TCA403645032C3n.486G>A
c.302G>A (p.Gly101Asp)
c.425G>A (p.Gly142Asp)
dbSNP gnomAD v2 gnomAD v4
19g.6718256C>ACA403645034C3n.485G>T
c.301G>T (p.Gly101Cys)
c.424G>T (p.Gly142Cys)
19g.6718256C>GCA403645036C3n.485G>C
c.301G>C (p.Gly101Arg)
c.424G>C (p.Gly142Arg)
COSMIC
19g.6718256C>TCA403645035C3n.485G>A
c.301G>A (p.Gly101Ser)
c.424G>A (p.Gly142Ser)
19g.6718257A>CCA505125132C3n.484T>G
c.300T>G (p.Pro100=)
c.423T>G (p.Pro141=)
19g.6718257A>GCA505125134C3n.484T>C
c.300T>C (p.Pro100=)
c.423T>C (p.Pro141=)
19g.6718257A>TCA505125133C3n.484T>A
c.300T>A (p.Pro100=)
c.423T>A (p.Pro141=)
19g.6718258G>ACA403645037C3n.483C>T
c.299C>T (p.Pro100Leu)
c.422C>T (p.Pro141Leu)
gnomAD v4
19g.6718258G>CCA403645039C3n.483C>G
c.299C>G (p.Pro100Arg)
c.422C>G (p.Pro141Arg)
19g.6718258G>TCA403645038C3n.483C>A
c.299C>A (p.Pro100His)
c.422C>A (p.Pro141His)
19g.6718259G>ACA403645040C3n.482C>T
c.298C>T (p.Pro100Ser)
c.421C>T (p.Pro141Ser)
19g.6718259G>CCA403645041C3n.482C>G
c.298C>G (p.Pro100Ala)
c.421C>G (p.Pro141Ala)
19g.6718259G>TCA403645042C3n.482C>A
c.298C>A (p.Pro100Thr)
c.421C>A (p.Pro141Thr)
19g.6718260G>ACA505125135C3n.481C>T
c.297C>T (p.Thr99=)
c.420C>T (p.Thr140=)
gnomAD v4 COSMIC
19g.6718260G>CCA505125136C3n.481C>G
c.297C>G (p.Thr99=)
c.420C>G (p.Thr140=)
19g.6718260G=CA2320570604C3n.481C=
c.297C= (p.Thr99=)
c.420C= (p.Thr140=)
19g.6718260G>TCA9129836C3n.481C>A
c.297C>A (p.Thr99=)
c.420C>A (p.Thr140=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6718261G>ACA403645043C3n.480C>T
c.296C>T (p.Thr99Ile)
c.419C>T (p.Thr140Ile)
COSMIC
19g.6718261G>CCA403645044C3n.480C>G
c.296C>G (p.Thr99Ser)
c.419C>G (p.Thr140Ser)
19g.6718261G>TCA403645045C3n.480C>A
c.296C>A (p.Thr99Asn)
c.419C>A (p.Thr140Asn)
19g.6718262T>ACA403645046C3n.479A>T
c.295A>T (p.Thr99Ser)
c.418A>T (p.Thr140Ser)
19g.6718262T>CCA403645047C3n.479A>G
c.295A>G (p.Thr99Ala)
c.418A>G (p.Thr140Ala)
19g.6718262T>GCA403645048C3n.479A>C
c.295A>C (p.Thr99Pro)
c.418A>C (p.Thr140Pro)
dbSNP gnomAD v4
19g.6718262T=CA2320570605C3n.479A=
c.295A= (p.Thr99=)
c.418A= (p.Thr140=)
19g.6718263G>ACA505125137C3n.478C>T
c.294C>T (p.Tyr98=)
c.417C>T (p.Tyr139=)
19g.6718263G>CCA403645049C3n.478C>G
c.294C>G (p.Tyr98Ter)
c.417C>G (p.Tyr139Ter)
19g.6718263G>TCA403645050C3n.478C>A
c.294C>A (p.Tyr98Ter)
c.417C>A (p.Tyr139Ter)
19g.6718264T>ACA403645053C3n.477A>T
c.293A>T (p.Tyr98Phe)
c.416A>T (p.Tyr139Phe)
19g.6718264T>CCA403645052C3n.477A>G
c.293A>G (p.Tyr98Cys)
c.416A>G (p.Tyr139Cys)
19g.6718264T>GCA403645051C3n.477A>C
c.293A>C (p.Tyr98Ser)
c.416A>C (p.Tyr139Ser)
19g.6718265A>CCA403645054C3n.476T>G
c.292T>G (p.Tyr98Asp)
c.415T>G (p.Tyr139Asp)
19g.6718265A>GCA403645055C3n.476T>C
c.292T>C (p.Tyr98His)
c.415T>C (p.Tyr139His)
19g.6718265A>TCA403645056C3n.476T>A
c.292T>A (p.Tyr98Asn)
c.415T>A (p.Tyr139Asn)
19g.6718266G>ACA505125138C3n.475C>T
c.291C>T (p.Ile97=)
c.414C>T (p.Ile138=)
19g.6718266G>CCA403645057C3n.475C>G
c.291C>G (p.Ile97Met)
c.414C>G (p.Ile138Met)
19g.6718266G>TCA505125139C3n.475C>A
c.291C>A (p.Ile97=)
c.414C>A (p.Ile138=)
19g.6718267A>CCA403645058C3n.474T>G
c.290T>G (p.Ile97Ser)
c.413T>G (p.Ile138Ser)
19g.6718267A>GCA403645059C3n.474T>C
c.290T>C (p.Ile97Thr)
c.413T>C (p.Ile138Thr)
19g.6718267A>TCA403645060C3n.474T>A
c.290T>A (p.Ile97Asn)
c.413T>A (p.Ile138Asn)
19g.6718268T>ACA403645061C3n.473A>T
c.289A>T (p.Ile97Phe)
c.412A>T (p.Ile138Phe)
19g.6718268T>CCA403645062C3n.473A>G
c.289A>G (p.Ile97Val)
c.412A>G (p.Ile138Val)
gnomAD v4
19g.6718268T>GCA403645063C3n.473A>C
c.289A>C (p.Ile97Leu)
c.412A>C (p.Ile138Leu)
19g.6718269G>ACA505125140C3n.472C>T
c.288C>T (p.Thr96=)
c.411C>T (p.Thr137=)
dbSNP
19g.6718269G>CCA505125141C3n.472C>G
c.288C>G (p.Thr96=)
c.411C>G (p.Thr137=)
19g.6718269G=CA2320570606C3n.472C=
c.288C= (p.Thr96=)
c.411C= (p.Thr137=)
19g.6718269G>TCA505125142C3n.472C>A
c.288C>A (p.Thr96=)
c.411C>A (p.Thr137=)
19g.6718270G>ACA403645064C3n.471C>T
c.287C>T (p.Thr96Ile)
c.410C>T (p.Thr137Ile)
19g.6718270G>CCA403645065C3n.471C>G
c.287C>G (p.Thr96Ser)
c.410C>G (p.Thr137Ser)
19g.6718270G>TCA403645066C3n.471C>A
c.287C>A (p.Thr96Asn)
c.410C>A (p.Thr137Asn)
19g.6718271T>ACA403645068C3n.470A>T
c.286A>T (p.Thr96Ser)
c.409A>T (p.Thr137Ser)
19g.6718271T>CCA403645069C3n.470A>G
c.286A>G (p.Thr96Ala)
c.409A>G (p.Thr137Ala)
19g.6718271T>GCA403645067C3n.470A>C
c.286A>C (p.Thr96Pro)
c.409A>C (p.Thr137Pro)
gnomAD v4
19g.6718272C>ACA403645070C3n.469G>T
c.285G>T (p.Lys95Asn)
c.408G>T (p.Lys136Asn)
19g.6718272C=CA2320570607C3n.469G=
c.285G= (p.Lys95=)
c.408G= (p.Lys136=)
19g.6718272C>GCA403645071C3n.469G>C
c.285G>C (p.Lys95Asn)
c.408G>C (p.Lys136Asn)
19g.6718272C>TCA505125143C3n.469G>A
c.285G>A (p.Lys95=)
c.408G>A (p.Lys136=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.6718273T>ACA403645072C3n.468A>T
c.284A>T (p.Lys95Met)
c.407A>T (p.Lys136Met)
19g.6718273T>CCA403645073C3n.468A>G
c.284A>G (p.Lys95Arg)
c.407A>G (p.Lys136Arg)
dbSNP
19g.6718273T>GCA403645074C3n.468A>C
c.284A>C (p.Lys95Thr)
c.407A>C (p.Lys136Thr)
19g.6718273T=CA2320570608C3n.468A=
c.284A= (p.Lys95=)
c.407A= (p.Lys136=)
19g.6718274T>ACA403645075C3n.467A>T
c.283A>T (p.Lys95Ter)
c.406A>T (p.Lys136Ter)
19g.6718274T>CCA403645076C3n.467A>G
c.283A>G (p.Lys95Glu)
c.406A>G (p.Lys136Glu)
19g.6718274T>GCA403645077C3n.467A>C
c.283A>C (p.Lys95Gln)
c.406A>C (p.Lys136Gln)
19g.6718275G>ACA505125144C3n.466C>T
c.282C>T (p.Asp94=)
c.405C>T (p.Asp135=)
19g.6718275G>CCA403645078C3n.466C>G
c.282C>G (p.Asp94Glu)
c.405C>G (p.Asp135Glu)
19g.6718275G>TCA403645079C3n.466C>A
c.282C>A (p.Asp94Glu)
c.405C>A (p.Asp135Glu)
19g.6718276T>ACA403645080C3n.465A>T
c.281A>T (p.Asp94Val)
c.404A>T (p.Asp135Val)
19g.6718276T>CCA403645081C3n.465A>G
c.281A>G (p.Asp94Gly)
c.404A>G (p.Asp135Gly)
19g.6718276T>GCA403645082C3n.465A>C
c.281A>C (p.Asp94Ala)
c.404A>C (p.Asp135Ala)
19g.6718277C>ACA403645083C3n.464G>T
c.280G>T (p.Asp94Tyr)
c.403G>T (p.Asp135Tyr)
19g.6718277C>GCA403645085C3n.464G>C
c.280G>C (p.Asp94His)
c.403G>C (p.Asp135His)
19g.6718277C>TCA403645084C3n.464G>A
c.280G>A (p.Asp94Asn)
c.403G>A (p.Asp135Asn)
19g.6718278T>ACA505125145C3n.463A>T
c.279A>T (p.Thr93=)
c.402A>T (p.Thr134=)
19g.6718278T>CCA505125146C3n.463A>G
c.279A>G (p.Thr93=)
c.402A>G (p.Thr134=)
gnomAD v4
19g.6718278T>GCA9129837C3n.463A>C
c.279A>C (p.Thr93=)
c.402A>C (p.Thr134=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.6718278T=CA2320570609C3n.463A=
c.279A= (p.Thr93=)
c.402A= (p.Thr134=)
19g.6718279G>ACA403645086C3n.462C>T
c.278C>T (p.Thr93Ile)
c.401C>T (p.Thr134Ile)
19g.6718279G>CCA403645087C3n.462C>G
c.278C>G (p.Thr93Arg)
c.401C>G (p.Thr134Arg)
19g.6718279G>TCA403645088C3n.462C>A
c.278C>A (p.Thr93Lys)
c.401C>A (p.Thr134Lys)
19g.6718280T>ACA403645089C3n.461A>T
c.277A>T (p.Thr93Ser)
c.400A>T (p.Thr134Ser)
19g.6718280T>CCA9129838C3n.461A>G
c.277A>G (p.Thr93Ala)
c.400A>G (p.Thr134Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.6718280T>GCA403645090C3n.461A>C
c.277A>C (p.Thr93Pro)
c.400A>C (p.Thr134Pro)
19g.6718280T=CA2320570610C3n.461A=
c.277A= (p.Thr93=)
c.400A= (p.Thr134=)
19g.6718281C>ACA403645091C3n.460G>T
c.276G>T (p.Gln92His)
c.399G>T (p.Gln133His)
19g.6718281C=CA2320570611C3n.460G=
c.276G= (p.Gln92=)
c.399G= (p.Gln133=)
19g.6718281C>GCA403645092C3n.460G>C
c.276G>C (p.Gln92His)
c.399G>C (p.Gln133His)
19g.6718281C>TCA505125147C3n.460G>A
c.276G>A (p.Gln92=)
c.399G>A (p.Gln133=)
dbSNP gnomAD v4
19g.6718282T>ACA403645095C3n.459A>T
c.275A>T (p.Gln92Leu)
c.398A>T (p.Gln133Leu)
gnomAD v4
19g.6718282T>CCA403645094C3n.459A>G
c.275A>G (p.Gln92Arg)
c.398A>G (p.Gln133Arg)
19g.6718282T>GCA403645093C3n.459A>C
c.275A>C (p.Gln92Pro)
c.398A>C (p.Gln133Pro)
19g.6718284_6718287delCA2587880777C3n.456_459del
c.272_275del (p.Ile91ArgfsTer?)
c.395_398del (p.Ile132ArgfsTer?)
gnomAD v4
19g.6718283G>ACA403645096C3n.458C>T
c.274C>T (p.Gln92Ter)
c.397C>T (p.Gln133Ter)
19g.6718283G>CCA403645098C3n.458C>G
c.274C>G (p.Gln92Glu)
c.397C>G (p.Gln133Glu)
19g.6718283G>TCA403645097C3n.458C>A
c.274C>A (p.Gln92Lys)
c.397C>A (p.Gln133Lys)
19g.6718284G>ACA505125148C3n.457C>T
c.273C>T (p.Ile91=)
c.396C>T (p.Ile132=)
19g.6718284G>CCA403645099C3n.457C>G
c.273C>G (p.Ile91Met)
c.396C>G (p.Ile132Met)
19g.6718284G>TCA505125149C3n.457C>A
c.273C>A (p.Ile91=)
c.396C>A (p.Ile132=)
19g.6718285A>CCA403645100C3n.456T>G
c.272T>G (p.Ile91Ser)
c.395T>G (p.Ile132Ser)
19g.6718285A>GCA403645101C3n.456T>C
c.272T>C (p.Ile91Thr)
c.395T>C (p.Ile132Thr)
19g.6718285A>TCA403645102C3n.456T>A
c.272T>A (p.Ile91Asn)
c.395T>A (p.Ile132Asn)
19g.6718286T>ACA403645103C3n.455A>T
c.271A>T (p.Ile91Phe)
c.394A>T (p.Ile132Phe)
19g.6718286T>CCA403645104C3n.455A>G
c.271A>G (p.Ile91Val)
c.394A>G (p.Ile132Val)
19g.6718286T>GCA403645105C3n.455A>C
c.271A>C (p.Ile91Leu)
c.394A>C (p.Ile132Leu)
19g.6718287G>ACA9129839C3n.454C>T
c.270C>T (p.Phe90=)
c.393C>T (p.Phe131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6718287G>CCA403645106C3n.454C>G
c.270C>G (p.Phe90Leu)
c.393C>G (p.Phe131Leu)
19g.6718287G=CA2320570612C3n.454C=
c.270C= (p.Phe90=)
c.393C= (p.Phe131=)
19g.6718287G>TCA403645107C3n.454C>A
c.270C>A (p.Phe90Leu)
c.393C>A (p.Phe131Leu)
19g.6718288A>CCA403645110C3n.453T>G
c.269T>G (p.Phe90Cys)
c.392T>G (p.Phe131Cys)
19g.6718288A>GCA403645109C3n.453T>C
c.269T>C (p.Phe90Ser)
c.392T>C (p.Phe131Ser)
19g.6718288A>TCA403645108C3n.453T>A
c.269T>A (p.Phe90Tyr)
c.392T>A (p.Phe131Tyr)
19g.6718289A>CCA403645111C3n.452T>G
c.268T>G (p.Phe90Val)
c.391T>G (p.Phe131Val)
19g.6718289A>GCA403645112C3n.452T>C
c.268T>C (p.Phe90Leu)
c.391T>C (p.Phe131Leu)
19g.6718289A>TCA403645113C3n.452T>A
c.268T>A (p.Phe90Ile)
c.391T>A (p.Phe131Ile)
19g.6718290G>ACA505125150C3n.451C>T
c.267C>T (p.Leu89=)
c.390C>T (p.Leu130=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6718290G>CCA505125151C3n.451C>G
c.267C>G (p.Leu89=)
c.390C>G (p.Leu130=)
dbSNP gnomAD v2 gnomAD v4
19g.6718290G=CA2320570613C3n.451C=
c.267C= (p.Leu89=)
c.390C= (p.Leu130=)
19g.6718290G>TCA505125152C3n.451C>A
c.267C>A (p.Leu89=)
c.390C>A (p.Leu130=)
19g.6718291A>CCA403645114C3n.450T>G
c.266T>G (p.Leu89Arg)
c.389T>G (p.Leu130Arg)
19g.6718291A>GCA403645115C3n.450T>C
c.266T>C (p.Leu89Pro)
c.389T>C (p.Leu130Pro)
19g.6718291A>TCA403645116C3n.450T>A
c.266T>A (p.Leu89His)
c.389T>A (p.Leu130His)
19g.6718292G>ACA403645117C3n.449C>T
c.265C>T (p.Leu89Phe)
c.388C>T (p.Leu130Phe)
19g.6718292G>CCA9129840C3n.449C>G
c.265C>G (p.Leu89Val)
c.388C>G (p.Leu130Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6718292G=CA2320570614C3n.449C=
c.265C= (p.Leu89=)
c.388C= (p.Leu130=)
19g.6718292G>TCA403645118C3n.449C>A
c.265C>A (p.Leu89Ile)
c.388C>A (p.Leu130Ile)
19g.6718293G>ACA505125153C3n.448C>T
c.264C>T (p.Tyr88=)
c.387C>T (p.Tyr129=)
19g.6718293G>CCA403645119C3n.448C>G
c.264C>G (p.Tyr88Ter)
c.387C>G (p.Tyr129Ter)
ClinVar dbSNP gnomAD v4
19g.6718293G>TCA403645120C3n.448C>A
c.264C>A (p.Tyr88Ter)
c.387C>A (p.Tyr129Ter)
19g.6718294T>ACA403645122C3n.447A>T
c.263A>T (p.Tyr88Phe)
c.386A>T (p.Tyr129Phe)
19g.6718294T>CCA403645123C3n.447A>G
c.263A>G (p.Tyr88Cys)
c.386A>G (p.Tyr129Cys)
gnomAD v4
19g.6718294T>GCA403645121C3n.447A>C
c.263A>C (p.Tyr88Ser)
c.386A>C (p.Tyr129Ser)
19g.6718295A>CCA403645124C3n.446T>G
c.262T>G (p.Tyr88Asp)
c.385T>G (p.Tyr129Asp)
19g.6718295A>GCA403645125C3n.446T>C
c.262T>C (p.Tyr88His)
c.385T>C (p.Tyr129His)
19g.6718295A>TCA403645126C3n.446T>A
c.262T>A (p.Tyr88Asn)
c.385T>A (p.Tyr129Asn)
19g.6718295_6718296delinsACCA2320570615C3n.445_446delinsGT
c.261_262delinsGT (p.Gly87=)
c.384_385delinsGT (p.Gly128=)
19g.6718296C>ACA505125154C3n.445G>T
c.261G>T (p.Gly87=)
c.384G>T (p.Gly128=)
19g.6718296C>GCA505125155C3n.445G>C
c.261G>C (p.Gly87=)
c.384G>C (p.Gly128=)
19g.6718296C>TCA505125156C3n.445G>A
c.261G>A (p.Gly87=)
c.384G>A (p.Gly128=)
gnomAD v4
19g.6718298delCA2320570616C3n.445del
c.261del (p.Tyr88ThrfsTer?)
c.384del (p.Tyr129ThrfsTer?)
dbSNP
19g.6718297C>ACA403645127C3n.444G>T
c.260G>T (p.Gly87Val)
c.383G>T (p.Gly128Val)
19g.6718297C>GCA403645128C3n.444G>C
c.260G>C (p.Gly87Ala)
c.383G>C (p.Gly128Ala)
gnomAD v4
19g.6718297C>TCA403645129C3n.444G>A
c.260G>A (p.Gly87Glu)
c.383G>A (p.Gly128Glu)
19g.6718298C>ACA403645132C3n.443G>T
c.259G>T (p.Gly87Trp)
c.382G>T (p.Gly128Trp)
19g.6718298C=CA2320570617C3n.443G=
c.259G= (p.Gly87=)
c.382G= (p.Gly128=)
19g.6718298C>GCA403645130C3n.443G>C
c.259G>C (p.Gly87Arg)
c.382G>C (p.Gly128Arg)
19g.6718298C>TCA403645131C3n.443G>A
c.259G>A (p.Gly87Arg)
c.382G>A (p.Gly128Arg)
dbSNP gnomAD v4
19g.6718299G>ACA505125157C3n.442C>T
c.258C>T (p.Ser86=)
c.381C>T (p.Ser127=)
ClinVar dbSNP gnomAD v4 COSMIC
19g.6718299G>CCA403645133C3n.442C>G
c.258C>G (p.Ser86Arg)
c.381C>G (p.Ser127Arg)
19g.6718299G=CA2320570618C3n.442C=
c.258C= (p.Ser86=)
c.381C= (p.Ser127=)
19g.6718299G>TCA304803552C3n.442C>A
c.258C>A (p.Ser86Arg)
c.381C>A (p.Ser127Arg)
dbSNP
19g.6718300C>ACA403645134C3n.441G>T
c.257G>T (p.Ser86Ile)
c.380G>T (p.Ser127Ile)
19g.6718300C>GCA403645135C3n.441G>C
c.257G>C (p.Ser86Thr)
c.380G>C (p.Ser127Thr)
gnomAD v4
19g.6718300C>TCA403645136C3n.441G>A
c.257G>A (p.Ser86Asn)
c.380G>A (p.Ser127Asn)
19g.6718301T>ACA403645137C3n.440A>T
c.256A>T (p.Ser86Cys)
c.379A>T (p.Ser127Cys)
19g.6718301T>CCA403645139C3n.440A>G
c.256A>G (p.Ser86Gly)
c.379A>G (p.Ser127Gly)
19g.6718301T>GCA403645138C3n.440A>C
c.256A>C (p.Ser86Arg)
c.379A>C (p.Ser127Arg)
19g.6718302C>ACA403645140C3n.439G>T
c.255G>T (p.Gln85His)
c.378G>T (p.Gln126His)
19g.6718302C>GCA403645141C3n.439G>C
c.255G>C (p.Gln85His)
c.378G>C (p.Gln126His)
19g.6718302C>TCA505125158C3n.439G>A
c.255G>A (p.Gln85=)
c.378G>A (p.Gln126=)
19g.6718303T>ACA403645142C3n.438A>T
c.254A>T (p.Gln85Leu)
c.377A>T (p.Gln126Leu)
19g.6718303T>CCA403645143C3n.438A>G
c.254A>G (p.Gln85Arg)
c.377A>G (p.Gln126Arg)
dbSNP
19g.6718303T>GCA403645144C3n.438A>C
c.254A>C (p.Gln85Pro)
c.377A>C (p.Gln126Pro)
19g.6718303T=CA2320570619C3n.438A=
c.254A= (p.Gln85=)
c.377A= (p.Gln126=)
19g.6718304G>ACA403645145C3n.437C>T
c.253C>T (p.Gln85Ter)
c.376C>T (p.Gln126Ter)
gnomAD v4
19g.6718304G>CCA403645146C3n.437C>G
c.253C>G (p.Gln85Glu)
c.376C>G (p.Gln126Glu)
19g.6718304G>TCA403645147C3n.437C>A
c.253C>A (p.Gln85Lys)
c.376C>A (p.Gln126Lys)
19g.6718305C>ACA304803558C3n.436G>T
c.252G>T (p.Leu84=)
c.375G>T (p.Leu125=)
dbSNP gnomAD v4
19g.6718305C=CA2320570620C3n.436G=
c.252G= (p.Leu84=)
c.375G= (p.Leu125=)
19g.6718305C>GCA505125159C3n.436G>C
c.252G>C (p.Leu84=)
c.375G>C (p.Leu125=)
dbSNP
19g.6718305C>TCA505125160C3n.436G>A
c.252G>A (p.Leu84=)
c.375G>A (p.Leu125=)
19g.6718306A=CA2320570621C3n.435T=
c.251T= (p.Leu84=)
c.374T= (p.Leu125=)
19g.6718306A>CCA403645148C3n.435T>G
c.251T>G (p.Leu84Arg)
c.374T>G (p.Leu125Arg)
19g.6718306A>GCA403645149C3n.435T>C
c.251T>C (p.Leu84Pro)
c.374T>C (p.Leu125Pro)
gnomAD v4
19g.6718306A>TCA403645150C3n.435T>A
c.251T>A (p.Leu84Gln)
c.374T>A (p.Leu125Gln)
19g.6718307G>ACA505125161C3n.434C>T
c.250C>T (p.Leu84=)
c.373C>T (p.Leu125=)
dbSNP
19g.6718307G>CCA403645152C3n.434C>G
c.250C>G (p.Leu84Val)
c.373C>G (p.Leu125Val)
19g.6718307G=CA2320570622C3n.434C=
c.250C= (p.Leu84=)
c.373C= (p.Leu125=)
19g.6718307G>TCA403645151C3n.434C>A
c.250C>A (p.Leu84Met)
c.373C>A (p.Leu125Met)
19g.6718308dupCA631663706C3n.434dup
c.250dup (p.Leu84ProfsTer?)
c.373dup (p.Leu125ProfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.6718308G>ACA505125162C3n.433C>T
c.249C>T (p.Ser83=)
c.372C>T (p.Ser124=)
19g.6718308G>CCA403645153C3n.433C>G
c.249C>G (p.Ser83Arg)
c.372C>G (p.Ser124Arg)
19g.6718308G>TCA403645154C3n.433C>A
c.249C>A (p.Ser83Arg)
c.372C>A (p.Ser124Arg)
19g.6718309C>ACA403645155C3n.432G>T
c.248G>T (p.Ser83Ile)
c.371G>T (p.Ser124Ile)
19g.6718309C=CA2320570623C3n.432G=
c.248G= (p.Ser83=)
c.371G= (p.Ser124=)
19g.6718309C>GCA403645156C3n.432G>C
c.248G>C (p.Ser83Thr)
c.371G>C (p.Ser124Thr)
19g.6718309C>TCA9129841C3n.432G>A
c.248G>A (p.Ser83Asn)
c.371G>A (p.Ser124Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6718310T>ACA403645157C3n.431A>T
c.247A>T (p.Ser83Cys)
c.370A>T (p.Ser124Cys)
19g.6718310T>CCA304803604C3n.431A>G
c.247A>G (p.Ser83Gly)
c.370A>G (p.Ser124Gly)
dbSNP gnomAD v3 gnomAD v4
19g.6718310T>GCA403645158C3n.431A>C
c.247A>C (p.Ser83Arg)
c.370A>C (p.Ser124Arg)
19g.6718310T=CA2320570624C3n.431A=
c.247A= (p.Ser83=)
c.370A= (p.Ser124=)
19g.6718311G>ACA505125165C3n.430C>T
c.246C>T (p.Val82=)
c.369C>T (p.Val123=)
19g.6718311G>CCA505125164C3n.430C>G
c.246C>G (p.Val82=)
c.369C>G (p.Val123=)
19g.6718311G>TCA505125163C3n.430C>A
c.246C>A (p.Val82=)
c.369C>A (p.Val123=)
19g.6718312A>CCA403645159C3n.429T>G
c.245T>G (p.Val82Gly)
c.368T>G (p.Val123Gly)
19g.6718312A>GCA403645160C3n.429T>C
c.245T>C (p.Val82Ala)
c.368T>C (p.Val123Ala)
19g.6718312A>TCA403645161C3n.429T>A
c.245T>A (p.Val82Asp)
c.368T>A (p.Val123Asp)
19g.6718313C>ACA403645162C3n.428G>T
c.244G>T (p.Val82Phe)
c.367G>T (p.Val123Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6718313C=CA2320570625C3n.428G=
c.244G= (p.Val82=)
c.367G= (p.Val123=)
19g.6718313C>GCA403645163C3n.428G>C
c.244G>C (p.Val82Leu)
c.367G>C (p.Val123Leu)
dbSNP gnomAD v2 gnomAD v4
19g.6718313C>TCA403645164C3n.428G>A
c.244G>A (p.Val82Ile)
c.367G>A (p.Val123Ile)
19g.6718314C>ACA505125166C3n.427G>T
c.243G>T (p.Leu81=)
c.366G>T (p.Leu122=)
19g.6718314C>GCA505125168C3n.427G>C
c.243G>C (p.Leu81=)
c.366G>C (p.Leu122=)
19g.6718314C>TCA505125167C3n.427G>A
c.243G>A (p.Leu81=)
c.366G>A (p.Leu122=)
19g.6718315A=CA2320570626C3n.426T=
c.242T= (p.Leu81=)
c.365T= (p.Leu122=)
19g.6718315A>CCA403645165C3n.426T>G
c.242T>G (p.Leu81Arg)
c.365T>G (p.Leu122Arg)
ClinVar dbSNP
19g.6718315A>GCA304803613C3n.426T>C
c.242T>C (p.Leu81Pro)
c.365T>C (p.Leu122Pro)
dbSNP gnomAD v4
19g.6718315A>TCA403645166C3n.426T>A
c.242T>A (p.Leu81Gln)
c.365T>A (p.Leu122Gln)
19g.6718316G>ACA505125169C3n.425C>T
c.241C>T (p.Leu81=)
c.364C>T (p.Leu122=)
gnomAD v4
19g.6718316G>CCA403645168C3n.425C>G
c.241C>G (p.Leu81Val)
c.364C>G (p.Leu122Val)
19g.6718316G>TCA403645167C3n.425C>A
c.241C>A (p.Leu81Met)
c.364C>A (p.Leu122Met)
19g.6718317C>ACA505125170C3n.424G>T
c.240G>T (p.Val80=)
c.363G>T (p.Val121=)
19g.6718317C>GCA505125171C3n.424G>C
c.240G>C (p.Val80=)
c.363G>C (p.Val121=)
19g.6718317C>TCA505125172C3n.424G>A
c.240G>A (p.Val80=)
c.363G>A (p.Val121=)
19g.6718318A>CCA403645169C3n.423T>G
c.239T>G (p.Val80Gly)
c.362T>G (p.Val121Gly)
19g.6718318A>GCA403645170C3n.423T>C
c.239T>C (p.Val80Ala)
c.362T>C (p.Val121Ala)
19g.6718318A>TCA403645171C3n.423T>A
c.239T>A (p.Val80Glu)
c.362T>A (p.Val121Glu)
19g.6718319C>ACA403645172C3n.422G>T
c.238G>T (p.Val80Leu)
c.361G>T (p.Val121Leu)
ClinVar dbSNP
19g.6718319C>GCA403645173C3n.422G>C
c.238G>C (p.Val80Leu)
c.361G>C (p.Val121Leu)
gnomAD v4
19g.6718319C>TCA403645174C3n.422G>A
c.238G>A (p.Val80Met)
c.361G>A (p.Val121Met)
19g.6718320C>ACA505125173C3n.421G>T
c.237G>T (p.Val79=)
c.360G>T (p.Val120=)
19g.6718320C>GCA505125174C3n.421G>C
c.237G>C (p.Val79=)
c.360G>C (p.Val120=)
19g.6718320C>TCA505125175C3n.421G>A
c.237G>A (p.Val79=)
c.360G>A (p.Val120=)
19g.6718321A>CCA403645175C3n.420T>G
c.236T>G (p.Val79Gly)
c.359T>G (p.Val120Gly)
19g.6718321A>GCA403645176C3n.420T>C
c.236T>C (p.Val79Ala)
c.359T>C (p.Val120Ala)
19g.6718321A>TCA403645177C3n.420T>A
c.236T>A (p.Val79Glu)
c.359T>A (p.Val120Glu)
19g.6718322C>ACA403645178C3n.419G>T
c.235G>T (p.Val79Leu)
c.358G>T (p.Val120Leu)
dbSNP gnomAD v4
19g.6718322C=CA2320570627C3n.419G=
c.235G= (p.Val79=)
c.358G= (p.Val120=)
19g.6718322C>GCA403645179C3n.419G>C
c.235G>C (p.Val79Leu)
c.358G>C (p.Val120Leu)
19g.6718322C>TCA403645180C3n.419G>A
c.235G>A (p.Val79Met)
c.358G>A (p.Val120Met)
19g.6718323C>ACA403645182C3n.418G>T
c.234G>T (p.Lys78Asn)
c.357G>T (p.Lys119Asn)
19g.6718323C>GCA403645181C3n.418G>C
c.234G>C (p.Lys78Asn)
c.357G>C (p.Lys119Asn)
19g.6718323C>TCA505125176C3n.418G>A
c.234G>A (p.Lys78=)
c.357G>A (p.Lys119=)
19g.6718324T>ACA403645183C3n.417A>T
c.233A>T (p.Lys78Met)
c.356A>T (p.Lys119Met)
19g.6718324T>CCA403645184C3n.417A>G
c.233A>G (p.Lys78Arg)
c.356A>G (p.Lys119Arg)
19g.6718324T>GCA403645185C3n.417A>C
c.233A>C (p.Lys78Thr)
c.356A>C (p.Lys119Thr)
19g.6718325T>ACA403645186C3n.416A>T
c.232A>T (p.Lys78Ter)
c.355A>T (p.Lys119Ter)
19g.6718325T>CCA403645187C3n.416A>G
c.232A>G (p.Lys78Glu)
c.355A>G (p.Lys119Glu)
19g.6718325T>GCA403645188C3n.416A>C
c.232A>C (p.Lys78Gln)
c.355A>C (p.Lys119Gln)
19g.6718326C>ACA403645190C3n.415G>T
c.231G>T (p.Glu77Asp)
c.354G>T (p.Glu118Asp)
19g.6718326C>GCA403645189C3n.415G>C
c.231G>C (p.Glu77Asp)
c.354G>C (p.Glu118Asp)
19g.6718326C>TCA505125177C3n.415G>A
c.231G>A (p.Glu77=)
c.354G>A (p.Glu118=)
gnomAD v4
19g.6718327T>ACA403645191C3n.414A>T
c.230A>T (p.Glu77Val)
c.353A>T (p.Glu118Val)
19g.6718327T>CCA403645192C3n.414A>G
c.230A>G (p.Glu77Gly)
c.353A>G (p.Glu118Gly)
19g.6718327T>GCA403645193C3n.414A>C
c.230A>C (p.Glu77Ala)
c.353A>C (p.Glu118Ala)
19g.6718328C>ACA403645194C3n.413G>T
c.229G>T (p.Glu77Ter)
c.352G>T (p.Glu118Ter)
19g.6718328C>GCA403645195C3n.413G>C
c.229G>C (p.Glu77Gln)
c.352G>C (p.Glu118Gln)
19g.6718328C>TCA403645196C3n.413G>A
c.229G>A (p.Glu77Lys)
c.352G>A (p.Glu118Lys)
19g.6718329C>ACA505125179C3n.412G>T
c.228G>T (p.Val76=)
c.351G>T (p.Val117=)
19g.6718329C>GCA505125180C3n.412G>C
c.228G>C (p.Val76=)
c.351G>C (p.Val117=)
19g.6718329C>TCA505125178C3n.412G>A
c.228G>A (p.Val76=)
c.351G>A (p.Val117=)
gnomAD v4
19g.6718330A>CCA403645197C3n.411T>G
c.227T>G (p.Val76Gly)
c.350T>G (p.Val117Gly)
19g.6718330A>GCA403645199C3n.411T>C
c.227T>C (p.Val76Ala)
c.350T>C (p.Val117Ala)
19g.6718330A>TCA403645198C3n.411T>A
c.227T>A (p.Val76Glu)
c.350T>A (p.Val117Glu)
19g.6718331C>ACA403645200C3n.410G>T
c.226G>T (p.Val76Leu)
c.349G>T (p.Val117Leu)
19g.6718331C>GCA403645201C3n.410G>C
c.226G>C (p.Val76Leu)
c.349G>C (p.Val117Leu)
19g.6718331C>TCA403645202C3n.410G>A
c.226G>A (p.Val76Met)
c.349G>A (p.Val117Met)
19g.6718332C>ACA505125183C3n.409G>T
c.225G>T (p.Val75=)
c.348G>T (p.Val116=)
gnomAD v4
19g.6718332C>GCA505125181C3n.409G>C
c.225G>C (p.Val75=)
c.348G>C (p.Val116=)
19g.6718332C>TCA505125182C3n.409G>A
c.225G>A (p.Val75=)
c.348G>A (p.Val116=)
19g.6718333A>CCA403645203C3n.408T>G
c.224T>G (p.Val75Gly)
c.347T>G (p.Val116Gly)
19g.6718333A>GCA403645204C3n.408T>C
c.224T>C (p.Val75Ala)
c.347T>C (p.Val116Ala)
gnomAD v4
19g.6718333A>TCA403645205C3n.408T>A
c.224T>A (p.Val75Glu)
c.347T>A (p.Val116Glu)
19g.6718334C>ACA403645206C3n.407G>T
c.223G>T (p.Val75Leu)
c.346G>T (p.Val116Leu)
19g.6718334C>GCA403645207C3n.407G>C
c.223G>C (p.Val75Leu)
c.346G>C (p.Val116Leu)
19g.6718334C>TCA403645208C3n.407G>A
c.223G>A (p.Val75Met)
c.346G>A (p.Val116Met)
ClinVar
19g.6718335T>ACA403645209C3n.406A>T
c.222A>T (p.Gln74His)
c.345A>T (p.Gln115His)
gnomAD v4
19g.6718335T>CCA505125184C3n.406A>G
c.222A>G (p.Gln74=)
c.345A>G (p.Gln115=)
19g.6718335T>GCA403645210C3n.406A>C
c.222A>C (p.Gln74His)
c.345A>C (p.Gln115His)
19g.6718336T>ACA403645213C3n.405A>T
c.221A>T (p.Gln74Leu)
c.344A>T (p.Gln115Leu)
19g.6718336T>CCA403645212C3n.405A>G
c.221A>G (p.Gln74Arg)
c.344A>G (p.Gln115Arg)
19g.6718336T>GCA403645211C3n.405A>C
c.221A>C (p.Gln74Pro)
c.344A>C (p.Gln115Pro)

Number of alleles fetched