Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.172447992_172448073delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGACA1420511719GHSRc.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG (p.Leu114=)
3g.172447994_172448074delCA548333798GHSRc.341_421del (p.Leu114_Glu140del)
dbSNP gnomAD v2 gnomAD v4
3g.172448027G>ACA436966308GHSRc.387C>T (p.Ala129=)
3g.172448027G>CCA436966310GHSRc.387C>G (p.Ala129=)
3g.172448027G>TCA436966313GHSRc.387C>A (p.Ala129=)
3g.172448028G>ACA355514759GHSRc.386C>T (p.Ala129Val)
gnomAD v4
3g.172448028G>CCA355514756GHSRc.386C>G (p.Ala129Gly)
3g.172448028G>TCA355514755GHSRc.386C>A (p.Ala129Asp)
3g.172448029C>ACA355514762GHSRc.385G>T (p.Ala129Ser)
gnomAD v4
3g.172448029C>GCA355514765GHSRc.385G>C (p.Ala129Pro)
3g.172448029C>TCA355514767GHSRc.385G>A (p.Ala129Thr)
gnomAD v4
3g.172448030G>ACA436966321GHSRc.384C>T (p.Tyr128=)
dbSNP gnomAD v2 gnomAD v4
3g.172448030G>CCA355514769GHSRc.384C>G (p.Tyr128Ter)
3g.172448030G=CA1420511737GHSRc.384C= (p.Tyr128=)
3g.172448030G>TCA87785756GHSRc.384C>A (p.Tyr128Ter)
ClinVar dbSNP gnomAD v4
3g.172448031T>ACA355514771GHSRc.383A>T (p.Tyr128Phe)
gnomAD v4
3g.172448031T>CCA355514774GHSRc.383A>G (p.Tyr128Cys)
dbSNP gnomAD v4
3g.172448031T>GCA355514776GHSRc.383A>C (p.Tyr128Ser)
3g.172448031T=CA1420511738GHSRc.383A= (p.Tyr128=)
3g.172448032A=CA1420511739GHSRc.382T= (p.Tyr128=)
3g.172448032A>CCA355514779GHSRc.382T>G (p.Tyr128Asp)
dbSNP
3g.172448032A>GCA355514781GHSRc.382T>C (p.Tyr128His)
3g.172448032A>TCA355514783GHSRc.382T>A (p.Tyr128Asn)
3g.172448033G>ACA2706483GHSRc.381C>T (p.Thr127=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448033G>CCA436966333GHSRc.381C>G (p.Thr127=)
3g.172448033G=CA1420511740GHSRc.381C= (p.Thr127=)
3g.172448033G>TCA436966335GHSRc.381C>A (p.Thr127=)
3g.172448034G>ACA355514792GHSRc.380C>T (p.Thr127Ile)
dbSNP gnomAD v2 gnomAD v4
3g.172448034G>CCA355514793GHSRc.380C>G (p.Thr127Ser)
3g.172448034G=CA1420511741GHSRc.380C= (p.Thr127=)
3g.172448034G>TCA355514789GHSRc.380C>A (p.Thr127Asn)
COSMIC COSMIC
3g.172448035T>ACA355514797GHSRc.379A>T (p.Thr127Ser)
3g.172448035T>CCA355514800GHSRc.379A>G (p.Thr127Ala)
3g.172448035T>GCA355514802GHSRc.379A>C (p.Thr127Pro)
3g.172448036G>ACA436966348GHSRc.378C>T (p.Cys126=)
3g.172448036G>CCA355514804GHSRc.378C>G (p.Cys126Trp)
3g.172448036G>TCA355514805GHSRc.378C>A (p.Cys126Ter)
3g.172448037C>ACA355514813GHSRc.377G>T (p.Cys126Phe)
3g.172448037C>GCA355514809GHSRc.377G>C (p.Cys126Ser)
3g.172448037C>TCA355514812GHSRc.377G>A (p.Cys126Tyr)
3g.172448038A>CCA355514816GHSRc.376T>G (p.Cys126Gly)
3g.172448038A>GCA355514818GHSRc.376T>C (p.Cys126Arg)
3g.172448038A>TCA355514822GHSRc.376T>A (p.Cys126Ser)
3g.172448039G>ACA436966355GHSRc.375C>T (p.Ser125=)
dbSNP
3g.172448039G>CCA355514826GHSRc.375C>G (p.Ser125Arg)
3g.172448039G=CA1420511742GHSRc.375C= (p.Ser125=)
3g.172448039G>TCA355514828GHSRc.375C>A (p.Ser125Arg)
3g.172448040C>ACA355514836GHSRc.374G>T (p.Ser125Ile)
3g.172448040C=CA1420511743GHSRc.374G= (p.Ser125=)
3g.172448040C>GCA355514833GHSRc.374G>C (p.Ser125Thr)
3g.172448040C>TCA355514831GHSRc.374G>A (p.Ser125Asn)
dbSNP gnomAD v2 gnomAD v4
3g.172448041T>ACA355514839GHSRc.373A>T (p.Ser125Cys)
3g.172448041T>CCA355514844GHSRc.373A>G (p.Ser125Gly)
3g.172448041T>GCA355514841GHSRc.373A>C (p.Ser125Arg)
3g.172448042C>ACA355514845GHSRc.372G>T (p.Glu124Asp)
3g.172448042C=CA1420511744GHSRc.372G= (p.Glu124=)
3g.172448042C>GCA355514847GHSRc.372G>C (p.Glu124Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448042C>TCA436966365GHSRc.372G>A (p.Glu124=)
3g.172448043T>ACA355514850GHSRc.371A>T (p.Glu124Val)
3g.172448043T>CCA355514852GHSRc.371A>G (p.Glu124Gly)
3g.172448043T>GCA355514856GHSRc.371A>C (p.Glu124Ala)
3g.172448044C>ACA355514858GHSRc.370G>T (p.Glu124Ter)
3g.172448044C>GCA355514859GHSRc.370G>C (p.Glu124Gln)
3g.172448044C>TCA355514861GHSRc.370G>A (p.Glu124Lys)
3g.172448045A=CA1420511745GHSRc.369T= (p.Ser123=)
3g.172448045A>CCA355514864GHSRc.369T>G (p.Ser123Arg)
3g.172448045A>GCA436966380GHSRc.369T>C (p.Ser123=)
dbSNP gnomAD v2 gnomAD v4
3g.172448045A>TCA355514866GHSRc.369T>A (p.Ser123Arg)
3g.172448046C>ACA355514869GHSRc.368G>T (p.Ser123Ile)
3g.172448046C=CA1420511746GHSRc.368G= (p.Ser123=)
3g.172448046C>GCA355514872GHSRc.368G>C (p.Ser123Thr)
3g.172448046C>TCA355514873GHSRc.368G>A (p.Ser123Asn)
dbSNP gnomAD v3 gnomAD v4
3g.172448047T>ACA355514876GHSRc.367A>T (p.Ser123Cys)
3g.172448047T>CCA2706484GHSRc.367A>G (p.Ser123Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448047T>GCA355514875GHSRc.367A>C (p.Ser123Arg)
ClinVar
3g.172448047T=CA1420511747GHSRc.367A= (p.Ser123=)
3g.172448048G>ACA436966391GHSRc.366C>T (p.Val122=)
gnomAD v4
3g.172448048G>CCA436966392GHSRc.366C>G (p.Val122=)
3g.172448048G=CA1420511748GHSRc.366C= (p.Val122=)
3g.172448048G>TCA436966394GHSRc.366C>A (p.Val122=)
dbSNP
3g.172448049A>CCA355514878GHSRc.365T>G (p.Val122Gly)
3g.172448049A>GCA355514880GHSRc.365T>C (p.Val122Ala)
3g.172448049A>TCA355514881GHSRc.365T>A (p.Val122Asp)
3g.172448050C>ACA87785781GHSRc.364G>T (p.Val122Phe)
dbSNP gnomAD v4
3g.172448050C=CA1420511749GHSRc.364G= (p.Val122=)
3g.172448050C>GCA355514882GHSRc.364G>C (p.Val122Leu)
gnomAD v4
3g.172448050C>TCA87785786GHSRc.364G>A (p.Val122Ile)
dbSNP gnomAD v2 COSMIC COSMIC
3g.172448051G>ACA436966408GHSRc.363C>T (p.Phe121=)
3g.172448051G>CCA355514884GHSRc.363C>G (p.Phe121Leu)
3g.172448051G>TCA355514886GHSRc.363C>A (p.Phe121Leu)
3g.172448052A>CCA355514888GHSRc.362T>G (p.Phe121Cys)
3g.172448052A>GCA355514890GHSRc.362T>C (p.Phe121Ser)
3g.172448052A>TCA355514892GHSRc.362T>A (p.Phe121Tyr)
3g.172448053A>CCA355514897GHSRc.361T>G (p.Phe121Val)
3g.172448053A>GCA355514896GHSRc.361T>C (p.Phe121Leu)
3g.172448053A>TCA355514894GHSRc.361T>A (p.Phe121Ile)
3g.172448054T>ACA355514899GHSRc.360A>T (p.Gln120His)
dbSNP
3g.172448054T>CCA2706485GHSRc.360A>G (p.Gln120=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448054T>GCA355514901GHSRc.360A>C (p.Gln120His)
3g.172448054T=CA1420511750GHSRc.360A= (p.Gln120=)
3g.172448055T>ACA355514904GHSRc.359A>T (p.Gln120Leu)
3g.172448055T>CCA355514905GHSRc.359A>G (p.Gln120Arg)
3g.172448055T>GCA355514906GHSRc.359A>C (p.Gln120Pro)
3g.172448056G>ACA355514908GHSRc.358C>T (p.Gln120Ter)
COSMIC COSMIC
3g.172448056G>CCA355514910GHSRc.358C>G (p.Gln120Glu)
3g.172448056G>TCA355514911GHSRc.358C>A (p.Gln120Lys)
3g.172448057G>ACA2706486GHSRc.357C>T (p.Phe119=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448057G>CCA355514914GHSRc.357C>G (p.Phe119Leu)
gnomAD v4
3g.172448057G=CA1420511751GHSRc.357C= (p.Phe119=)
3g.172448057G>TCA355514915GHSRc.357C>A (p.Phe119Leu)
3g.172448058A>CCA355514918GHSRc.356T>G (p.Phe119Cys)
gnomAD v4
3g.172448058A>GCA355514919GHSRc.356T>C (p.Phe119Ser)
3g.172448058A>TCA355514917GHSRc.356T>A (p.Phe119Tyr)
3g.172448059A=CA1420511752GHSRc.355T= (p.Phe119=)
3g.172448059A>CCA355514921GHSRc.355T>G (p.Phe119Val)
3g.172448059A>GCA2706487GHSRc.355T>C (p.Phe119Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448059A>TCA355514923GHSRc.355T>A (p.Phe119Ile)
3g.172448061_172448062delCA2668560147GHSRc.354_355del (p.Phe119ProfsTer5)
gnomAD v4
3g.172448060G>ACA2706488GHSRc.354C>T (p.Leu118=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448060G>CCA2706489GHSRc.354C>G (p.Leu118=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448060G=CA1420511753GHSRc.354C= (p.Leu118=)
3g.172448060G>TCA436966431GHSRc.354C>A (p.Leu118=)
3g.172448061A=CA1420511754GHSRc.353T= (p.Leu118=)
3g.172448061A>CCA355514930GHSRc.353T>G (p.Leu118Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.172448061A>GCA355514927GHSRc.353T>C (p.Leu118Pro)
3g.172448061A>TCA355514928GHSRc.353T>A (p.Leu118His)
3g.172448062G>ACA355514933GHSRc.352C>T (p.Leu118Phe)
3g.172448062G>CCA355514934GHSRc.352C>G (p.Leu118Val)
3g.172448062G>TCA355514936GHSRc.352C>A (p.Leu118Ile)
3g.172448063T>ACA355514938GHSRc.351A>T (p.Lys117Asn)
dbSNP COSMIC COSMIC
3g.172448063T>CCA2706490GHSRc.351A>G (p.Lys117=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448063T>GCA355514940GHSRc.351A>C (p.Lys117Asn)
3g.172448063T=CA1420511755GHSRc.351A= (p.Lys117=)
3g.172448064T>ACA355514944GHSRc.350A>T (p.Lys117Ile)
COSMIC COSMIC
3g.172448064T>CCA355514946GHSRc.350A>G (p.Lys117Arg)
3g.172448064T>GCA355514942GHSRc.350A>C (p.Lys117Thr)
ClinVar dbSNP gnomAD v4
3g.172448064T=CA1420511756GHSRc.350A= (p.Lys117=)
3g.172448065T>ACA355514950GHSRc.349A>T (p.Lys117Ter)
3g.172448065T>CCA355514948GHSRc.349A>G (p.Lys117Glu)
3g.172448065T>GCA355514952GHSRc.349A>C (p.Lys117Gln)
3g.172448066G>ACA436966442GHSRc.348C>T (p.Cys116=)
3g.172448066G>CCA355514953GHSRc.348C>G (p.Cys116Trp)
3g.172448066G>TCA355514955GHSRc.348C>A (p.Cys116Ter)
gnomAD v4
3g.172448067C>ACA355514957GHSRc.347G>T (p.Cys116Phe)
COSMIC COSMIC
3g.172448067C>GCA355514958GHSRc.347G>C (p.Cys116Ser)
3g.172448067C>TCA355514960GHSRc.347G>A (p.Cys116Tyr)
3g.172448068A>CCA355514963GHSRc.346T>G (p.Cys116Gly)
3g.172448068A>GCA355514964GHSRc.346T>C (p.Cys116Arg)
3g.172448068A>TCA355514965GHSRc.346T>A (p.Cys116Ser)
3g.172448069G>ACA436966446GHSRc.345C>T (p.Leu115=)
gnomAD v4
3g.172448069G>CCA436966448GHSRc.345C>G (p.Leu115=)
3g.172448069G>TCA436966449GHSRc.345C>A (p.Leu115=)
3g.172448070A=CA1420511757GHSRc.344T= (p.Leu115=)
3g.172448070A>CCA355514967GHSRc.344T>G (p.Leu115Arg)
3g.172448070A>GCA355514969GHSRc.344T>C (p.Leu115Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.172448070A>TCA355514971GHSRc.344T>A (p.Leu115His)
3g.172448071G>ACA355514972GHSRc.343C>T (p.Leu115Phe)
3g.172448071G>CCA355514973GHSRc.343C>G (p.Leu115Val)
3g.172448071G>TCA355514974GHSRc.343C>A (p.Leu115Ile)
gnomAD v4
3g.172448072G>ACA436966452GHSRc.342C>T (p.Leu114=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448072G>CCA436966453GHSRc.342C>G (p.Leu114=)
3g.172448072G=CA1420511758GHSRc.342C= (p.Leu114=)
3g.172448072G>TCA436966455GHSRc.342C>A (p.Leu114=)
dbSNP
3g.172448073A>CCA355514978GHSRc.341T>G (p.Leu114Arg)
3g.172448073A>GCA355514977GHSRc.341T>C (p.Leu114Pro)
3g.172448073A>TCA355514976GHSRc.341T>A (p.Leu114His)
3g.172448074G>ACA355514979GHSRc.340C>T (p.Leu114Phe)
3g.172448074G>CCA355514980GHSRc.340C>G (p.Leu114Val)
dbSNP gnomAD v2 gnomAD v4
3g.172448074G=CA1420511759GHSRc.340C= (p.Leu114=)
3g.172448074G>TCA355514981GHSRc.340C>A (p.Leu114Ile)
3g.172448075G>ACA436966460GHSRc.339C>T (p.Asp113=)
3g.172448075G>CCA355514982GHSRc.339C>G (p.Asp113Glu)
3g.172448075G>TCA355514984GHSRc.339C>A (p.Asp113Glu)
3g.172448076T>ACA355514986GHSRc.338A>T (p.Asp113Val)
3g.172448076T>CCA355514988GHSRc.338A>G (p.Asp113Gly)
3g.172448076T>GCA355514989GHSRc.338A>C (p.Asp113Ala)
3g.172448077C>ACA355514990GHSRc.337G>T (p.Asp113Tyr)
3g.172448077C>GCA355514992GHSRc.337G>C (p.Asp113His)
ClinVar
3g.172448077C>TCA355514994GHSRc.337G>A (p.Asp113Asn)
gnomAD v4 COSMIC COSMIC
3g.172448078G>ACA436966463GHSRc.336C>T (p.Gly112=)
gnomAD v4
3g.172448078G>CCA436966464GHSRc.336C>G (p.Gly112=)
3g.172448078G>TCA436966465GHSRc.336C>A (p.Gly112=)
3g.172448079C>ACA355514996GHSRc.335G>T (p.Gly112Val)
3g.172448079C>GCA355514998GHSRc.335G>C (p.Gly112Ala)
3g.172448079C>TCA355515000GHSRc.335G>A (p.Gly112Asp)
3g.172448080C>ACA355515002GHSRc.334G>T (p.Gly112Cys)
3g.172448080C=CA1420511760GHSRc.334G= (p.Gly112=)
3g.172448080C>GCA87785858GHSRc.334G>C (p.Gly112Arg)
dbSNP gnomAD v3 gnomAD v4
3g.172448080C>TCA355515001GHSRc.334G>A (p.Gly112Ser)
COSMIC COSMIC
3g.172448081G>ACA436966472GHSRc.333C>T (p.Phe111=)
gnomAD v4
3g.172448081G>CCA355515004GHSRc.333C>G (p.Phe111Leu)
3g.172448081G>TCA355515005GHSRc.333C>A (p.Phe111Leu)
3g.172448082A>CCA355515006GHSRc.332T>G (p.Phe111Cys)
3g.172448082A>GCA355515008GHSRc.332T>C (p.Phe111Ser)
3g.172448082A>TCA355515009GHSRc.332T>A (p.Phe111Tyr)
3g.172448083A>CCA355515011GHSRc.331T>G (p.Phe111Val)
3g.172448083A>GCA355515013GHSRc.331T>C (p.Phe111Leu)
3g.172448083A>TCA355515015GHSRc.331T>A (p.Phe111Ile)
3g.172448084G>ACA436966475GHSRc.330C>T (p.Asn110=)
gnomAD v4
3g.172448084G>CCA355515016GHSRc.330C>G (p.Asn110Lys)
3g.172448084G>TCA355515017GHSRc.330C>A (p.Asn110Lys)
3g.172448085T>ACA355515019GHSRc.329A>T (p.Asn110Ile)
3g.172448085T>CCA355515021GHSRc.329A>G (p.Asn110Ser)
dbSNP gnomAD v2 gnomAD v4
3g.172448085T>GCA355515022GHSRc.329A>C (p.Asn110Thr)
3g.172448085T=CA1420511761GHSRc.329A= (p.Asn110=)
3g.172448086T>ACA355515027GHSRc.328A>T (p.Asn110Tyr)
3g.172448086T>CCA355515024GHSRc.328A>G (p.Asn110Asp)
3g.172448086T>GCA355515026GHSRc.328A>C (p.Asn110His)
3g.172448087C>ACA355515028GHSRc.327G>T (p.Trp109Cys)
3g.172448087C=CA1420511762GHSRc.327G= (p.Trp109=)
3g.172448087C>GCA355515029GHSRc.327G>C (p.Trp109Cys)
gnomAD v4
3g.172448087C>TCA355515031GHSRc.327G>A (p.Trp109Ter)
dbSNP gnomAD v4 COSMIC COSMIC
3g.172448088C>ACA355515032GHSRc.326G>T (p.Trp109Leu)
3g.172448088C>GCA355515033GHSRc.326G>C (p.Trp109Ser)
3g.172448088C>TCA355515035GHSRc.326G>A (p.Trp109Ter)
3g.172448089A=CA1420511763GHSRc.325T= (p.Trp109=)
3g.172448089A>CCA355515037GHSRc.325T>G (p.Trp109Gly)
3g.172448089A>GCA2706491GHSRc.325T>C (p.Trp109Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.172448089A>TCA355515039GHSRc.325T>A (p.Trp109Arg)
3g.172448090G>ACA436966482GHSRc.324C>T (p.Pro108=)
3g.172448090G>CCA436966483GHSRc.324C>G (p.Pro108=)
dbSNP gnomAD v2 gnomAD v4
3g.172448090G=CA1420511764GHSRc.324C= (p.Pro108=)
3g.172448090G>TCA436966485GHSRc.324C>A (p.Pro108=)
3g.172448092delCA2668560148GHSRc.324del (p.Trp109GlyfsTer29)
gnomAD v4
3g.172448091G>ACA2706492GHSRc.323C>T (p.Pro108Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448091G>CCA355515041GHSRc.323C>G (p.Pro108Arg)
3g.172448091G=CA1420511765GHSRc.323C= (p.Pro108=)
3g.172448091G>TCA355515043GHSRc.323C>A (p.Pro108His)
3g.172448092G>ACA355515048GHSRc.322C>T (p.Pro108Ser)
3g.172448092G>CCA355515045GHSRc.322C>G (p.Pro108Ala)
3g.172448092G>TCA355515046GHSRc.322C>A (p.Pro108Thr)
3g.172448093C>ACA436966492GHSRc.321G>T (p.Arg107=)
3g.172448093C=CA1420511766GHSRc.321G= (p.Arg107=)
3g.172448093C>GCA2706493GHSRc.321G>C (p.Arg107=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448093C>TCA436966494GHSRc.321G>A (p.Arg107=)
3g.172448094C>ACA355515050GHSRc.320G>T (p.Arg107Leu)
dbSNP gnomAD v2 gnomAD v4
3g.172448094C=CA1420511767GHSRc.320G= (p.Arg107=)
3g.172448094C>GCA355515052GHSRc.320G>C (p.Arg107Pro)
3g.172448094C>TCA355515054GHSRc.320G>A (p.Arg107Gln)
3g.172448094_172448095delinsCGCA1420511768GHSRc.319_320delinsCG (p.Arg107=)
3g.172448095G>ACA87785876GHSRc.319C>T (p.Arg107Trp)
dbSNP gnomAD v2 COSMIC COSMIC
3g.172448095G>CCA355515056GHSRc.319C>G (p.Arg107Gly)
3g.172448095G=CA1420511769GHSRc.319C= (p.Arg107=)
3g.172448095G>TCA436966496GHSRc.319C>A (p.Arg107=)
3g.172448096delCA548333815GHSRc.319del (p.Arg107GlyfsTer?)
dbSNP gnomAD v2 gnomAD v4
3g.172448096G>ACA436966497GHSRc.318C>T (p.Tyr106=)
gnomAD v4
3g.172448096G>CCA355515058GHSRc.318C>G (p.Tyr106Ter)
gnomAD v4
3g.172448096G>TCA355515060GHSRc.318C>A (p.Tyr106Ter)
3g.172448097T>ACA355515061GHSRc.317A>T (p.Tyr106Phe)
3g.172448097T>CCA355515063GHSRc.317A>G (p.Tyr106Cys)
gnomAD v4
3g.172448097T>GCA355515062GHSRc.317A>C (p.Tyr106Ser)
3g.172448098A>CCA355515065GHSRc.316T>G (p.Tyr106Asp)
3g.172448098A>GCA355515067GHSRc.316T>C (p.Tyr106His)
gnomAD v4
3g.172448098A>TCA355515068GHSRc.316T>A (p.Tyr106Asn)
3g.172448099C>ACA355515070GHSRc.315G>T (p.Gln105His)
dbSNP gnomAD v4
3g.172448099C=CA1420511770GHSRc.315G= (p.Gln105=)
3g.172448099C>GCA355515071GHSRc.315G>C (p.Gln105His)
3g.172448099C>TCA436966501GHSRc.315G>A (p.Gln105=)
3g.172448100T>ACA355515073GHSRc.314A>T (p.Gln105Leu)
3g.172448100T>CCA355515077GHSRc.314A>G (p.Gln105Arg)
3g.172448100T>GCA355515075GHSRc.314A>C (p.Gln105Pro)
3g.172448101G>ACA355515079GHSRc.313C>T (p.Gln105Ter)
3g.172448101G>CCA355515081GHSRc.313C>G (p.Gln105Glu)
3g.172448101G=CA1420511771GHSRc.313C= (p.Gln105=)
3g.172448101G>TCA355515083GHSRc.313C>A (p.Gln105Lys)
dbSNP gnomAD v3 gnomAD v4
3g.172448102C>ACA355515084GHSRc.312G>T (p.Trp104Cys)
3g.172448102C=CA1420511772GHSRc.312G= (p.Trp104=)
3g.172448102C>GCA355515086GHSRc.312G>C (p.Trp104Cys)
3g.172448102C>TCA355515087GHSRc.312G>A (p.Trp104Ter)
dbSNP gnomAD v2
3g.172448103C>ACA355515089GHSRc.311G>T (p.Trp104Leu)
3g.172448103C>GCA355515091GHSRc.311G>C (p.Trp104Ser)
3g.172448103C>TCA355515092GHSRc.311G>A (p.Trp104Ter)
3g.172448104A=CA1420511773GHSRc.310T= (p.Trp104=)
3g.172448104A>CCA355515095GHSRc.310T>G (p.Trp104Gly)
3g.172448104A>GCA355515097GHSRc.310T>C (p.Trp104Arg)
dbSNP
3g.172448104A>TCA355515098GHSRc.310T>A (p.Trp104Arg)
3g.172448105G>ACA436966507GHSRc.309C>T (p.Leu103=)
3g.172448105G>CCA436966509GHSRc.309C>G (p.Leu103=)
gnomAD v4
3g.172448105G>TCA436966510GHSRc.309C>A (p.Leu103=)
3g.172448106A>CCA355515100GHSRc.308T>G (p.Leu103Arg)
3g.172448106A>GCA355515103GHSRc.308T>C (p.Leu103Pro)
3g.172448106A>TCA355515101GHSRc.308T>A (p.Leu103His)
3g.172448107G>ACA355515104GHSRc.307C>T (p.Leu103Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448107G>CCA355515106GHSRc.307C>G (p.Leu103Val)
3g.172448107G=CA1420511774GHSRc.307C= (p.Leu103=)
3g.172448107G>TCA355515107GHSRc.307C>A (p.Leu103Ile)
3g.172448108G>ACA2706494GHSRc.306C>T (p.Arg102=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448108G>CCA436966515GHSRc.306C>G (p.Arg102=)
3g.172448108G=CA1420511775GHSRc.306C= (p.Arg102=)
3g.172448108G>TCA436966517GHSRc.306C>A (p.Arg102=)
3g.172448109C>ACA355515110GHSRc.305G>T (p.Arg102Leu)
3g.172448109C=CA1420511776GHSRc.305G= (p.Arg102=)
3g.172448109C>GCA355515112GHSRc.305G>C (p.Arg102Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448109C>TCA355515113GHSRc.305G>A (p.Arg102His)
dbSNP gnomAD v4
3g.172448110G>ACA355515115GHSRc.304C>T (p.Arg102Cys)
COSMIC COSMIC
3g.172448110G>CCA355515116GHSRc.304C>G (p.Arg102Gly)
3g.172448110G>TCA355515118GHSRc.304C>A (p.Arg102Ser)
3g.172448111A>CCA436966521GHSRc.303T>G (p.Val101=)
3g.172448111A>GCA436966522GHSRc.303T>C (p.Val101=)
gnomAD v4
3g.172448111A>TCA436966524GHSRc.303T>A (p.Val101=)
3g.172448112A>CCA355515120GHSRc.302T>G (p.Val101Gly)
3g.172448112A>GCA355515121GHSRc.302T>C (p.Val101Ala)
3g.172448112A>TCA355515123GHSRc.302T>A (p.Val101Asp)
3g.172448113C>ACA355515129GHSRc.301G>T (p.Val101Phe)
gnomAD v4
3g.172448113C>GCA355515125GHSRc.301G>C (p.Val101Leu)
3g.172448113C>TCA355515127GHSRc.301G>A (p.Val101Ile)
gnomAD v4
3g.172448114G>ACA436966531GHSRc.300C>T (p.Leu100=)
gnomAD v4
3g.172448114G>CCA436966533GHSRc.300C>G (p.Leu100=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.172448114G=CA1420511777GHSRc.300C= (p.Leu100=)
3g.172448114G>TCA436966532GHSRc.300C>A (p.Leu100=)
3g.172448115A=CA1420511778GHSRc.299T= (p.Leu100=)
3g.172448115A>CCA355515131GHSRc.299T>G (p.Leu100Arg)
3g.172448115A>GCA355515132GHSRc.299T>C (p.Leu100Pro)
dbSNP gnomAD v3 gnomAD v4
3g.172448115A>TCA355515134GHSRc.299T>A (p.Leu100His)
3g.172448116G>ACA355515136GHSRc.298C>T (p.Leu100Phe)
3g.172448116G>CCA355515137GHSRc.298C>G (p.Leu100Val)
3g.172448116G>TCA355515138GHSRc.298C>A (p.Leu100Ile)
3g.172448116_172448117delinsATCA2580610841GHSRc.297_298delinsAT (p.Asp99_Leu100delinsGluPhe)
3g.172448117G>ACA436966535GHSRc.297C>T (p.Asp99=)
3g.172448117G>CCA355515140GHSRc.297C>G (p.Asp99Glu)
3g.172448117G=CA1420511779GHSRc.297C= (p.Asp99=)
3g.172448117G>TCA2706495GHSRc.297C>A (p.Asp99Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.172448118T>ACA355515142GHSRc.296A>T (p.Asp99Val)
3g.172448118T>CCA355515144GHSRc.296A>G (p.Asp99Gly)
3g.172448118T>GCA355515145GHSRc.296A>C (p.Asp99Ala)
3g.172448119C>ACA355515148GHSRc.295G>T (p.Asp99Tyr)
3g.172448119C=CA1420511780GHSRc.295G= (p.Asp99=)
3g.172448119C>GCA355515151GHSRc.295G>C (p.Asp99His)
dbSNP
3g.172448119C>TCA355515149GHSRc.295G>A (p.Asp99Asn)
3g.172448120C>ACA436966536GHSRc.294G>T (p.Leu98=)
3g.172448120C>GCA436966537GHSRc.294G>C (p.Leu98=)
3g.172448120C>TCA436966538GHSRc.294G>A (p.Leu98=)
3g.172448121delCA2668560149GHSRc.293del (p.Leu98ArgfsTer?)
gnomAD v4
3g.172448121A>CCA355515153GHSRc.293T>G (p.Leu98Arg)
3g.172448121A>GCA355515157GHSRc.293T>C (p.Leu98Pro)
gnomAD v4 COSMIC COSMIC
3g.172448121A>TCA355515155GHSRc.293T>A (p.Leu98Gln)
3g.172448122G>ACA436966544GHSRc.292C>T (p.Leu98=)
3g.172448122G>CCA355515159GHSRc.292C>G (p.Leu98Val)
3g.172448122G>TCA355515161GHSRc.292C>A (p.Leu98Met)
3g.172448123G>ACA87785921GHSRc.291C>T (p.Pro97=)
dbSNP
3g.172448123G>CCA436966546GHSRc.291C>G (p.Pro97=)
3g.172448123G=CA1420511781GHSRc.291C= (p.Pro97=)
3g.172448123G>TCA436966547GHSRc.291C>A (p.Pro97=)
3g.172448124G>ACA355515163GHSRc.290C>T (p.Pro97Leu)
3g.172448124G>CCA355515164GHSRc.290C>G (p.Pro97Arg)
3g.172448124G>TCA355515166GHSRc.290C>A (p.Pro97His)
3g.172448125G>ACA355515172GHSRc.289C>T (p.Pro97Ser)
3g.172448125G>CCA355515170GHSRc.289C>G (p.Pro97Ala)
3g.172448125G>TCA355515168GHSRc.289C>A (p.Pro97Thr)
3g.172448126C>ACA355515174GHSRc.288G>T (p.Met96Ile)
3g.172448126C>GCA355515175GHSRc.288G>C (p.Met96Ile)
3g.172448126C>TCA355515177GHSRc.288G>A (p.Met96Ile)
3g.172448127A>CCA355515178GHSRc.287T>G (p.Met96Arg)
3g.172448127A>GCA355515180GHSRc.287T>C (p.Met96Thr)
3g.172448127A>TCA355515182GHSRc.287T>A (p.Met96Lys)

Number of alleles fetched