Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.130458389_130458391dupCA5283187ASS1c.175-12_175-10dup (n.175-12_175-10dup)
c.289-12_289-10dup (n.289-12_289-10dup)
c.271-12_271-10dup (n.271-12_271-10dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458389_130458391delCA2692120552ASS1c.175-12_175-10del (n.175-12_175-10del)
c.289-12_289-10del (n.289-12_289-10del)
c.271-12_271-10del (n.271-12_271-10del)
 gnomAD v4
9g.130458389C=CA1881249923ASS1c.175-12C= (n.175-12C=)
c.289-12C= (n.289-12C=)
c.271-12C= (n.271-12C=)
9g.130458389C>TCA5283188ASS1c.175-12C>T (n.175-12C>T)
c.289-12C>T (n.289-12C>T)
c.271-12C>T (n.271-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458391C=CA1881249924ASS1c.175-10C= (n.175-10C=)
c.289-10C= (n.289-10C=)
c.271-10C= (n.271-10C=)
9g.130458391C>TCA590945125ASS1c.175-10C>T (n.175-10C>T)
c.289-10C>T (n.289-10C>T)
c.271-10C>T (n.271-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458394C>ACA590945126ASS1c.175-7C>A (n.175-7C>A)
c.289-7C>A (n.289-7C>A)
c.271-7C>A (n.271-7C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458394C=CA1881249925ASS1c.175-7C= (n.175-7C=)
c.289-7C= (n.289-7C=)
c.271-7C= (n.271-7C=)
9g.130458394C>GCA5283189ASS1c.175-7C>G (n.175-7C>G)
c.289-7C>G (n.289-7C>G)
c.271-7C>G (n.271-7C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458394C>TCA1881249926ASS1c.175-7C>T (n.175-7C>T)
c.289-7C>T (n.289-7C>T)
c.271-7C>T (n.271-7C>T)
 dbSNP
9g.130458395C>GCA2697558099ASS1c.175-6C>G (n.175-6C>G)
c.289-6C>G (n.289-6C>G)
c.271-6C>G (n.271-6C>G)
 ClinVar
9g.130458395C>TCA2692120575ASS1c.175-6C>T (n.175-6C>T)
c.289-6C>T (n.289-6C>T)
c.271-6C>T (n.271-6C>T)
 gnomAD v4
9g.130458396C=CA1881249927ASS1c.175-5C= (n.175-5C=)
c.289-5C= (n.289-5C=)
c.271-5C= (n.271-5C=)
9g.130458396C>GCA645547250ASS1c.175-5C>G (n.175-5C>G)
c.289-5C>G (n.289-5C>G)
c.271-5C>G (n.271-5C>G)
 COSMIC
9g.130458396C>TCA5283190ASS1c.175-5C>T (n.175-5C>T)
c.289-5C>T (n.289-5C>T)
c.271-5C>T (n.271-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458397G>ACA5283191ASS1c.175-4G>A (n.175-4G>A)
c.289-4G>A (n.289-4G>A)
c.271-4G>A (n.271-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458397G>CCA2573144317ASS1c.175-4G>C (n.175-4G>C)
c.289-4G>C (n.289-4G>C)
c.271-4G>C (n.271-4G>C)
 ClinVar dbSNP
9g.130458397G=CA1881249928ASS1c.175-4G= (n.175-4G=)
c.289-4G= (n.289-4G=)
c.271-4G= (n.271-4G=)
9g.130458397G>TCA590945127ASS1c.175-4G>T (n.175-4G>T)
c.289-4G>T (n.289-4G>T)
c.271-4G>T (n.271-4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458398T>CCA590945128ASS1c.175-3T>C (n.175-3T>C)
c.289-3T>C (n.289-3T>C)
c.271-3T>C (n.271-3T>C)
 dbSNP gnomAD v2
9g.130458398T=CA1881249929ASS1c.175-3T= (n.175-3T=)
c.289-3T= (n.289-3T=)
c.271-3T= (n.271-3T=)
9g.130458399A=CA1881249930ASS1c.175-2A= (n.175-2A=)
c.289-2A= (n.289-2A=)
c.271-2A= (n.271-2A=)
9g.130458399A>CCA375224756ASS1c.175-2A>C (n.175-2A>C)
c.289-2A>C (n.289-2A>C)
c.271-2A>C (n.271-2A>C)
9g.130458399A>GCA375224758ASS1c.175-2A>G (n.175-2A>G)
c.289-2A>G (n.289-2A>G)
c.271-2A>G (n.271-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458399A>TCA375224760ASS1c.175-2A>T (n.175-2A>T)
c.289-2A>T (n.289-2A>T)
c.271-2A>T (n.271-2A>T)
9g.130458400G>ACA375224762ASS1c.175-1G>A (n.175-1G>A)
c.289-1G>A (n.289-1G>A)
c.271-1G>A (n.271-1G>A)
 ClinVar dbSNP
9g.130458400G>CCA375224764ASS1c.175-1G>C (n.175-1G>C)
c.289-1G>C (n.289-1G>C)
c.271-1G>C (n.271-1G>C)
9g.130458400G=CA1881249931ASS1c.175-1G= (n.175-1G=)
c.289-1G= (n.289-1G=)
c.271-1G= (n.271-1G=)
9g.130458400G>TCA375224765ASS1c.175-1G>T (n.175-1G>T)
c.289-1G>T (n.289-1G>T)
c.271-1G>T (n.271-1G>T)
 ClinVar dbSNP
9g.130458401G>ACA375224771ASS1c.175G>A (p.Val59Met)
c.289G>A (p.Val97Met)
c.271G>A (p.Val91Met)
 dbSNP gnomAD v2 gnomAD v4
9g.130458401G>CCA375224769ASS1c.175G>C (p.Val59Leu)
c.289G>C (p.Val97Leu)
c.271G>C (p.Val91Leu)
 COSMIC
9g.130458401G=CA1881249932ASS1c.175G= (p.Val59=)
c.289G= (p.Val97=)
c.271G= (p.Val91=)
9g.130458401G>TCA375224767ASS1c.175G>T (p.Val59Leu)
c.289G>T (p.Val97Leu)
c.271G>T (p.Val91Leu)
9g.130458402T>ACA375224773ASS1c.176T>A (p.Val59Glu)
c.290T>A (p.Val97Glu)
c.272T>A (p.Val91Glu)
9g.130458402T>CCA375224777ASS1c.176T>C (p.Val59Ala)
c.290T>C (p.Val97Ala)
c.272T>C (p.Val91Ala)
9g.130458402T>GCA375224775ASS1c.176T>G (p.Val59Gly)
c.290T>G (p.Val97Gly)
c.272T>G (p.Val91Gly)
9g.130458403G>ACA5283192ASS1c.177G>A (p.Val59=)
c.291G>A (p.Val97=)
c.273G>A (p.Val91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458403G>CCA467388453ASS1c.177G>C (p.Val59=)
c.291G>C (p.Val97=)
c.273G>C (p.Val91=)
9g.130458403G=CA1881249933ASS1c.177G= (p.Val59=)
c.291G= (p.Val97=)
c.273G= (p.Val91=)
9g.130458403G>TCA467388454ASS1c.177G>T (p.Val59=)
c.291G>T (p.Val97=)
c.273G>T (p.Val91=)
9g.130458404T>ACA375224784ASS1c.178T>A (p.Phe60Ile)
c.292T>A (p.Phe98Ile)
c.274T>A (p.Phe92Ile)
 gnomAD v4
9g.130458404T>CCA375224780ASS1c.178T>C (p.Phe60Leu)
c.292T>C (p.Phe98Leu)
c.274T>C (p.Phe92Leu)
9g.130458404T>GCA375224782ASS1c.178T>G (p.Phe60Val)
c.292T>G (p.Phe98Val)
c.274T>G (p.Phe92Val)
9g.130458405T>ACA375224786ASS1c.179T>A (p.Phe60Tyr)
c.293T>A (p.Phe98Tyr)
c.275T>A (p.Phe92Tyr)
9g.130458405T>CCA375224788ASS1c.179T>C (p.Phe60Ser)
c.293T>C (p.Phe98Ser)
c.275T>C (p.Phe92Ser)
9g.130458405T>GCA5283193ASS1c.179T>G (p.Phe60Cys)
c.293T>G (p.Phe98Cys)
c.275T>G (p.Phe92Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458405T=CA1881249934ASS1c.179T= (p.Phe60=)
c.293T= (p.Phe98=)
c.275T= (p.Phe92=)
9g.130458406C>ACA375224791ASS1c.180C>A (p.Phe60Leu)
c.294C>A (p.Phe98Leu)
c.276C>A (p.Phe92Leu)
9g.130458406C=CA1881249935ASS1c.180C= (p.Phe60=)
c.294C= (p.Phe98=)
c.276C= (p.Phe92=)
9g.130458406C>GCA375224793ASS1c.180C>G (p.Phe60Leu)
c.294C>G (p.Phe98Leu)
c.276C>G (p.Phe92Leu)
9g.130458406C>TCA467388458ASS1c.180C>T (p.Phe60=)
c.294C>T (p.Phe98=)
c.276C>T (p.Phe92=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.130458407A=CA1881249936ASS1c.181A= (p.Ile61=)
c.295A= (p.Ile99=)
c.277A= (p.Ile93=)
9g.130458407A>CCA375224795ASS1c.181A>C (p.Ile61Leu)
c.295A>C (p.Ile99Leu)
c.277A>C (p.Ile93Leu)
9g.130458407A>GCA375224797ASS1c.181A>G (p.Ile61Val)
c.295A>G (p.Ile99Val)
c.277A>G (p.Ile93Val)
 dbSNP
9g.130458407A>TCA375224799ASS1c.181A>T (p.Ile61Phe)
c.295A>T (p.Ile99Phe)
c.277A>T (p.Ile93Phe)
9g.130458408T>ACA375224803ASS1c.182T>A (p.Ile61Asn)
c.296T>A (p.Ile99Asn)
c.278T>A (p.Ile93Asn)
9g.130458408T>CCA5283194ASS1c.182T>C (p.Ile61Thr)
c.296T>C (p.Ile99Thr)
c.278T>C (p.Ile93Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458408T>GCA375224801ASS1c.182T>G (p.Ile61Ser)
c.296T>G (p.Ile99Ser)
c.278T>G (p.Ile93Ser)
9g.130458408T=CA1881249937ASS1c.182T= (p.Ile61=)
c.296T= (p.Ile99=)
c.278T= (p.Ile93=)
9g.130458409T>ACA467388463ASS1c.183T>A (p.Ile61=)
c.297T>A (p.Ile99=)
c.279T>A (p.Ile93=)
9g.130458409T>CCA200607947ASS1c.183T>C (p.Ile61=)
c.297T>C (p.Ile99=)
c.279T>C (p.Ile93=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458409T>GCA375224806ASS1c.183T>G (p.Ile61Met)
c.297T>G (p.Ile99Met)
c.279T>G (p.Ile93Met)
9g.130458409T=CA1881249938ASS1c.183T= (p.Ile61=)
c.297T= (p.Ile99=)
c.279T= (p.Ile93=)
9g.130458410G>ACA375224808ASS1c.184G>A (p.Glu62Lys)
c.298G>A (p.Glu100Lys)
c.280G>A (p.Glu94Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.130458410G>CCA375224810ASS1c.184G>C (p.Glu62Gln)
c.298G>C (p.Glu100Gln)
c.280G>C (p.Glu94Gln)
9g.130458410G=CA1881249939ASS1c.184G= (p.Glu62=)
c.298G= (p.Glu100=)
c.280G= (p.Glu94=)
9g.130458410G>TCA375224812ASS1c.184G>T (p.Glu62Ter)
c.298G>T (p.Glu100Ter)
c.280G>T (p.Glu94Ter)
9g.130458411A>CCA375224814ASS1c.185A>C (p.Glu62Ala)
c.299A>C (p.Glu100Ala)
c.281A>C (p.Glu94Ala)
9g.130458411A>GCA375224817ASS1c.185A>G (p.Glu62Gly)
c.299A>G (p.Glu100Gly)
c.281A>G (p.Glu94Gly)
9g.130458411A>TCA375224819ASS1c.185A>T (p.Glu62Val)
c.299A>T (p.Glu100Val)
c.281A>T (p.Glu94Val)
9g.130458412G>ACA467388466ASS1c.186G>A (p.Glu62=)
c.300G>A (p.Glu100=)
c.282G>A (p.Glu94=)
 ClinVar
9g.130458412G>CCA375224820ASS1c.186G>C (p.Glu62Asp)
c.300G>C (p.Glu100Asp)
c.282G>C (p.Glu94Asp)
9g.130458412G>TCA375224822ASS1c.186G>T (p.Glu62Asp)
c.300G>T (p.Glu100Asp)
c.282G>T (p.Glu94Asp)
9g.130458413G>ACA375224824ASS1c.187G>A (p.Asp63Asn)
c.301G>A (p.Asp101Asn)
c.283G>A (p.Asp95Asn)
9g.130458413G>CCA375224826ASS1c.187G>C (p.Asp63His)
c.301G>C (p.Asp101His)
c.283G>C (p.Asp95His)
9g.130458413G>TCA375224827ASS1c.187G>T (p.Asp63Tyr)
c.301G>T (p.Asp101Tyr)
c.283G>T (p.Asp95Tyr)
9g.130458413_130458415delinsGATCA1881249940ASS1c.187_189delinsGAT (p.Asp63=)
c.301_303delinsGAT (p.Asp101=)
c.283_285delinsGAT (p.Asp95=)
9g.130458414A>CCA375224832ASS1c.188A>C (p.Asp63Ala)
c.302A>C (p.Asp101Ala)
c.284A>C (p.Asp95Ala)
9g.130458414A>GCA375224834ASS1c.188A>G (p.Asp63Gly)
c.302A>G (p.Asp101Gly)
c.284A>G (p.Asp95Gly)
9g.130458414A>TCA375224830ASS1c.188A>T (p.Asp63Val)
c.302A>T (p.Asp101Val)
c.284A>T (p.Asp95Val)
9g.130458414_130458415delCA590945134ASS1c.188_189del (p.Asp63GlyfsTer21)
c.302_303del (p.Asp101GlyfsTer21)
c.284_285del (p.Asp95GlyfsTer21)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458415T>ACA375224835ASS1c.189T>A (p.Asp63Glu)
c.303T>A (p.Asp101Glu)
c.285T>A (p.Asp95Glu)
9g.130458415T>CCA467388469ASS1c.189T>C (p.Asp63=)
c.303T>C (p.Asp101=)
c.285T>C (p.Asp95=)
 ClinVar dbSNP
9g.130458415T>GCA375224837ASS1c.189T>G (p.Asp63Glu)
c.303T>G (p.Asp101Glu)
c.285T>G (p.Asp95Glu)
9g.130458415T=CA1881249941ASS1c.189T= (p.Asp63=)
c.303T= (p.Asp101=)
c.285T= (p.Asp95=)
9g.130458416G>ACA5283195ASS1c.190G>A (p.Val64Ile)
c.304G>A (p.Val102Ile)
c.286G>A (p.Val96Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458416G>CCA375224839ASS1c.190G>C (p.Val64Leu)
c.304G>C (p.Val102Leu)
c.286G>C (p.Val96Leu)
9g.130458416G=CA1881249942ASS1c.190G= (p.Val64=)
c.304G= (p.Val102=)
c.286G= (p.Val96=)
9g.130458416G>TCA375224841ASS1c.190G>T (p.Val64Phe)
c.304G>T (p.Val102Phe)
c.286G>T (p.Val96Phe)
 COSMIC
9g.130458417T>ACA375224843ASS1c.191T>A (p.Val64Asp)
c.305T>A (p.Val102Asp)
c.287T>A (p.Val96Asp)
9g.130458417T>CCA375224845ASS1c.191T>C (p.Val64Ala)
c.305T>C (p.Val102Ala)
c.287T>C (p.Val96Ala)
9g.130458417T>GCA375224847ASS1c.191T>G (p.Val64Gly)
c.305T>G (p.Val102Gly)
c.287T>G (p.Val96Gly)
9g.130458418C>ACA467388474ASS1c.192C>A (p.Val64=)
c.306C>A (p.Val102=)
c.288C>A (p.Val96=)
9g.130458418C>GCA467388475ASS1c.192C>G (p.Val64=)
c.306C>G (p.Val102=)
c.288C>G (p.Val96=)
9g.130458418C>TCA467388476ASS1c.192C>T (p.Val64=)
c.306C>T (p.Val102=)
c.288C>T (p.Val96=)
 gnomAD v4
9g.130458419A>CCA375224849ASS1c.193A>C (p.Ser65Arg)
c.307A>C (p.Ser103Arg)
c.289A>C (p.Ser97Arg)
9g.130458419A>GCA375224851ASS1c.193A>G (p.Ser65Gly)
c.307A>G (p.Ser103Gly)
c.289A>G (p.Ser97Gly)
 gnomAD v4
9g.130458419A>TCA375224853ASS1c.193A>T (p.Ser65Cys)
c.307A>T (p.Ser103Cys)
c.289A>T (p.Ser97Cys)
9g.130458420G>ACA375224857ASS1c.194G>A (p.Ser65Asn)
c.308G>A (p.Ser103Asn)
c.290G>A (p.Ser97Asn)
9g.130458420G>CCA375224859ASS1c.194G>C (p.Ser65Thr)
c.308G>C (p.Ser103Thr)
c.290G>C (p.Ser97Thr)
9g.130458420G>TCA375224855ASS1c.194G>T (p.Ser65Ile)
c.308G>T (p.Ser103Ile)
c.290G>T (p.Ser97Ile)
9g.130458421C>ACA375224861ASS1c.195C>A (p.Ser65Arg)
c.309C>A (p.Ser103Arg)
c.291C>A (p.Ser97Arg)
9g.130458421C>GCA375224863ASS1c.195C>G (p.Ser65Arg)
c.309C>G (p.Ser103Arg)
c.291C>G (p.Ser97Arg)
9g.130458421C>TCA467388478ASS1c.195C>T (p.Ser65=)
c.309C>T (p.Ser103=)
c.291C>T (p.Ser97=)
9g.130458422A>CCA467388479ASS1c.196A>C (p.Arg66=)
c.310A>C (p.Arg104=)
c.292A>C (p.Arg98=)
9g.130458422A>GCA375224864ASS1c.196A>G (p.Arg66Gly)
c.310A>G (p.Arg104Gly)
c.292A>G (p.Arg98Gly)
9g.130458422A>TCA375224865ASS1c.196A>T (p.Arg66Trp)
c.310A>T (p.Arg104Trp)
c.292A>T (p.Arg98Trp)
9g.130458423G>ACA375224871ASS1c.197G>A (p.Arg66Lys)
c.311G>A (p.Arg104Lys)
c.293G>A (p.Arg98Lys)
 dbSNP
9g.130458423G>CCA375224869ASS1c.197G>C (p.Arg66Thr)
c.311G>C (p.Arg104Thr)
c.293G>C (p.Arg98Thr)
9g.130458423G>TCA375224867ASS1c.197G>T (p.Arg66Met)
c.311G>T (p.Arg104Met)
c.293G>T (p.Arg98Met)
9g.130458424G>ACA5283196ASS1c.198G>A (p.Arg66=)
c.312G>A (p.Arg104=)
c.294G>A (p.Arg98=)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
9g.130458424G>CCA375224874ASS1c.198G>C (p.Arg66Ser)
c.312G>C (p.Arg104Ser)
c.294G>C (p.Arg98Ser)
9g.130458424G=CA1881249943ASS1c.198G= (p.Arg66=)
c.312G= (p.Arg104=)
c.294G= (p.Arg98=)
9g.130458424G>TCA375224876ASS1c.198G>T (p.Arg66Ser)
c.312G>T (p.Arg104Ser)
c.294G>T (p.Arg98Ser)
9g.130458425G>ACA375224878ASS1c.199G>A (p.Glu67Lys)
c.313G>A (p.Glu105Lys)
c.295G>A (p.Glu99Lys)
 ClinVar dbSNP
9g.130458425G>CCA375224880ASS1c.199G>C (p.Glu67Gln)
c.313G>C (p.Glu105Gln)
c.295G>C (p.Glu99Gln)
9g.130458425G=CA1881249944ASS1c.199G= (p.Glu67=)
c.313G= (p.Glu105=)
c.295G= (p.Glu99=)
9g.130458425G>TCA375224882ASS1c.199G>T (p.Glu67Ter)
c.313G>T (p.Glu105Ter)
c.295G>T (p.Glu99Ter)
 ClinVar
9g.130458426A>CCA375224888ASS1c.200A>C (p.Glu67Ala)
c.314A>C (p.Glu105Ala)
c.296A>C (p.Glu99Ala)
9g.130458426A>GCA375224886ASS1c.200A>G (p.Glu67Gly)
c.314A>G (p.Glu105Gly)
c.296A>G (p.Glu99Gly)
9g.130458426A>TCA375224884ASS1c.200A>T (p.Glu67Val)
c.314A>T (p.Glu105Val)
c.296A>T (p.Glu99Val)
9g.130458427G>ACA467388480ASS1c.201G>A (p.Glu67=)
c.315G>A (p.Glu105=)
c.297G>A (p.Glu99=)
9g.130458427G>CCA375224890ASS1c.201G>C (p.Glu67Asp)
c.315G>C (p.Glu105Asp)
c.297G>C (p.Glu99Asp)
9g.130458427G>TCA375224892ASS1c.201G>T (p.Glu67Asp)
c.315G>T (p.Glu105Asp)
c.297G>T (p.Glu99Asp)
 gnomAD v4
9g.130458428T>ACA375224894ASS1c.202T>A (p.Phe68Ile)
c.316T>A (p.Phe106Ile)
c.298T>A (p.Phe100Ile)
9g.130458428T>CCA375224896ASS1c.202T>C (p.Phe68Leu)
c.316T>C (p.Phe106Leu)
c.298T>C (p.Phe100Leu)
9g.130458428T>GCA375224898ASS1c.202T>G (p.Phe68Val)
c.316T>G (p.Phe106Val)
c.298T>G (p.Phe100Val)
9g.130458429T>ACA375224900ASS1c.203T>A (p.Phe68Tyr)
c.317T>A (p.Phe106Tyr)
c.299T>A (p.Phe100Tyr)
9g.130458429T>CCA375224902ASS1c.203T>C (p.Phe68Ser)
c.317T>C (p.Phe106Ser)
c.299T>C (p.Phe100Ser)
 gnomAD v4
9g.130458429T>GCA375224904ASS1c.203T>G (p.Phe68Cys)
c.317T>G (p.Phe106Cys)
c.299T>G (p.Phe100Cys)
9g.130458430T>ACA375224906ASS1c.204T>A (p.Phe68Leu)
c.318T>A (p.Phe106Leu)
c.300T>A (p.Phe100Leu)
9g.130458430T>CCA467388481ASS1c.204T>C (p.Phe68=)
c.318T>C (p.Phe106=)
c.300T>C (p.Phe100=)
9g.130458430T>GCA375224908ASS1c.204T>G (p.Phe68Leu)
c.318T>G (p.Phe106Leu)
c.300T>G (p.Phe100Leu)
9g.130458431G>ACA375224911ASS1c.205G>A (p.Val69Met)
c.319G>A (p.Val107Met)
c.301G>A (p.Val101Met)
9g.130458431G>CCA375224912ASS1c.205G>C (p.Val69Leu)
c.319G>C (p.Val107Leu)
c.301G>C (p.Val101Leu)
9g.130458431G>TCA375224914ASS1c.205G>T (p.Val69Leu)
c.319G>T (p.Val107Leu)
c.301G>T (p.Val101Leu)
 gnomAD v4
9g.130458432T>ACA375224919ASS1c.206T>A (p.Val69Glu)
c.320T>A (p.Val107Glu)
c.302T>A (p.Val101Glu)
9g.130458432T>CCA5283197ASS1c.206T>C (p.Val69Ala)
c.320T>C (p.Val107Ala)
c.302T>C (p.Val101Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458432T>GCA375224916ASS1c.206T>G (p.Val69Gly)
c.320T>G (p.Val107Gly)
c.302T>G (p.Val101Gly)
9g.130458432T=CA1881249945ASS1c.206T= (p.Val69=)
c.320T= (p.Val107=)
c.302T= (p.Val101=)
9g.130458433G>ACA467388482ASS1c.207G>A (p.Val69=)
c.321G>A (p.Val107=)
c.303G>A (p.Val101=)
 ClinVar dbSNP gnomAD v4
9g.130458433G>CCA467388483ASS1c.207G>C (p.Val69=)
c.321G>C (p.Val107=)
c.303G>C (p.Val101=)
9g.130458433G>TCA467388484ASS1c.207G>T (p.Val69=)
c.321G>T (p.Val107=)
c.303G>T (p.Val101=)
9g.130458434G>ACA375224921ASS1c.208G>A (p.Glu70Lys)
c.322G>A (p.Glu108Lys)
c.304G>A (p.Glu102Lys)
9g.130458434G>CCA375224924ASS1c.208G>C (p.Glu70Gln)
c.322G>C (p.Glu108Gln)
c.304G>C (p.Glu102Gln)
9g.130458434G>TCA375224926ASS1c.208G>T (p.Glu70Ter)
c.322G>T (p.Glu108Ter)
c.304G>T (p.Glu102Ter)
9g.130458435A>CCA375224928ASS1c.209A>C (p.Glu70Ala)
c.323A>C (p.Glu108Ala)
c.305A>C (p.Glu102Ala)
9g.130458435A>GCA375224930ASS1c.209A>G (p.Glu70Gly)
c.323A>G (p.Glu108Gly)
c.305A>G (p.Glu102Gly)
9g.130458435A>TCA375224932ASS1c.209A>T (p.Glu70Val)
c.323A>T (p.Glu108Val)
c.305A>T (p.Glu102Val)
9g.130458436G>ACA467388485ASS1c.210G>A (p.Glu70=)
c.324G>A (p.Glu108=)
c.306G>A (p.Glu102=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458436G>CCA375224934ASS1c.210G>C (p.Glu70Asp)
c.324G>C (p.Glu108Asp)
c.306G>C (p.Glu102Asp)
9g.130458436G=CA1881249946ASS1c.210G= (p.Glu70=)
c.324G= (p.Glu108=)
c.306G= (p.Glu102=)
9g.130458436G>TCA375224937ASS1c.210G>T (p.Glu70Asp)
c.324G>T (p.Glu108Asp)
c.306G>T (p.Glu102Asp)
9g.130458437dupCA2692120643ASS1c.211dup (p.Glu71GlyfsTer14)
c.325dup (p.Glu109GlyfsTer14)
c.307dup (p.Glu103GlyfsTer14)
 gnomAD v4
9g.130458437G>ACA375224939ASS1c.211G>A (p.Glu71Lys)
c.325G>A (p.Glu109Lys)
c.307G>A (p.Glu103Lys)
9g.130458437G>CCA375224941ASS1c.211G>C (p.Glu71Gln)
c.325G>C (p.Glu109Gln)
c.307G>C (p.Glu103Gln)
9g.130458437G>TCA375224943ASS1c.211G>T (p.Glu71Ter)
c.325G>T (p.Glu109Ter)
c.307G>T (p.Glu103Ter)
9g.130458438A>CCA375224946ASS1c.212A>C (p.Glu71Ala)
c.326A>C (p.Glu109Ala)
c.308A>C (p.Glu103Ala)
 gnomAD v4
9g.130458438A>GCA375224948ASS1c.212A>G (p.Glu71Gly)
c.326A>G (p.Glu109Gly)
c.308A>G (p.Glu103Gly)
9g.130458438A>TCA375224950ASS1c.212A>T (p.Glu71Val)
c.326A>T (p.Glu109Val)
c.308A>T (p.Glu103Val)
9g.130458439G>ACA5283198ASS1c.213G>A (p.Glu71=)
c.327G>A (p.Glu109=)
c.309G>A (p.Glu103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458439G>CCA375224955ASS1c.213G>C (p.Glu71Asp)
c.327G>C (p.Glu109Asp)
c.309G>C (p.Glu103Asp)
9g.130458439G=CA1881249947ASS1c.213G= (p.Glu71=)
c.327G= (p.Glu109=)
c.309G= (p.Glu103=)
9g.130458439G>TCA375224952ASS1c.213G>T (p.Glu71Asp)
c.327G>T (p.Glu109Asp)
c.309G>T (p.Glu103Asp)
9g.130458440T>ACA375224957ASS1c.214T>A (p.Phe72Ile)
c.328T>A (p.Phe110Ile)
c.310T>A (p.Phe104Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.130458440T>CCA375224959ASS1c.214T>C (p.Phe72Leu)
c.328T>C (p.Phe110Leu)
c.310T>C (p.Phe104Leu)
9g.130458440T>GCA375224961ASS1c.214T>G (p.Phe72Val)
c.328T>G (p.Phe110Val)
c.310T>G (p.Phe104Val)
9g.130458440T=CA1881249948ASS1c.214T= (p.Phe72=)
c.328T= (p.Phe110=)
c.310T= (p.Phe104=)
9g.130458441T>ACA375224963ASS1c.215T>A (p.Phe72Tyr)
c.329T>A (p.Phe110Tyr)
c.311T>A (p.Phe104Tyr)
9g.130458441T>CCA375224965ASS1c.215T>C (p.Phe72Ser)
c.329T>C (p.Phe110Ser)
c.311T>C (p.Phe104Ser)
9g.130458441T>GCA375224967ASS1c.215T>G (p.Phe72Cys)
c.329T>G (p.Phe110Cys)
c.311T>G (p.Phe104Cys)
9g.130458442C>ACA375224969ASS1c.216C>A (p.Phe72Leu)
c.330C>A (p.Phe110Leu)
c.312C>A (p.Phe104Leu)
9g.130458442C=CA1881249949ASS1c.216C= (p.Phe72=)
c.330C= (p.Phe110=)
c.312C= (p.Phe104=)
9g.130458442C>GCA375224971ASS1c.216C>G (p.Phe72Leu)
c.330C>G (p.Phe110Leu)
c.312C>G (p.Phe104Leu)
 ClinVar dbSNP
9g.130458442C>TCA467388486ASS1c.216C>T (p.Phe72=)
c.330C>T (p.Phe110=)
c.312C>T (p.Phe104=)
 COSMIC
9g.130458443A>CCA375224973ASS1c.217A>C (p.Ile73Leu)
c.331A>C (p.Ile111Leu)
c.313A>C (p.Ile105Leu)
9g.130458443A>GCA375224975ASS1c.217A>G (p.Ile73Val)
c.331A>G (p.Ile111Val)
c.313A>G (p.Ile105Val)
9g.130458443A>TCA375224977ASS1c.217A>T (p.Ile73Phe)
c.331A>T (p.Ile111Phe)
c.313A>T (p.Ile105Phe)
9g.130458444T>ACA375224982ASS1c.218T>A (p.Ile73Asn)
c.332T>A (p.Ile111Asn)
c.314T>A (p.Ile105Asn)
9g.130458444T>CCA375224980ASS1c.218T>C (p.Ile73Thr)
c.332T>C (p.Ile111Thr)
c.314T>C (p.Ile105Thr)
9g.130458444T>GCA375224978ASS1c.218T>G (p.Ile73Ser)
c.332T>G (p.Ile111Ser)
c.314T>G (p.Ile105Ser)
9g.130458445C>ACA467388487ASS1c.219C>A (p.Ile73=)
c.333C>A (p.Ile111=)
c.315C>A (p.Ile105=)
9g.130458445C>GCA375224984ASS1c.219C>G (p.Ile73Met)
c.333C>G (p.Ile111Met)
c.315C>G (p.Ile105Met)
9g.130458445C>TCA467388488ASS1c.219C>T (p.Ile73=)
c.333C>T (p.Ile111=)
c.315C>T (p.Ile105=)
9g.130458446T>ACA375224986ASS1c.220T>A (p.Trp74Arg)
c.334T>A (p.Trp112Arg)
c.316T>A (p.Trp106Arg)
9g.130458446T>CCA375224988ASS1c.220T>C (p.Trp74Arg)
c.334T>C (p.Trp112Arg)
c.316T>C (p.Trp106Arg)
9g.130458446T>GCA375224990ASS1c.220T>G (p.Trp74Gly)
c.334T>G (p.Trp112Gly)
c.316T>G (p.Trp106Gly)
9g.130458447G>ACA375224992ASS1c.221G>A (p.Trp74Ter)
c.335G>A (p.Trp112Ter)
c.317G>A (p.Trp106Ter)
9g.130458447G>CCA375224994ASS1c.221G>C (p.Trp74Ser)
c.335G>C (p.Trp112Ser)
c.317G>C (p.Trp106Ser)
9g.130458447G>TCA375224996ASS1c.221G>T (p.Trp74Leu)
c.335G>T (p.Trp112Leu)
c.317G>T (p.Trp106Leu)
9g.130458448G>ACA375224998ASS1c.222G>A (p.Trp74Ter)
c.336G>A (p.Trp112Ter)
c.318G>A (p.Trp106Ter)
 ClinVar gnomAD v4
9g.130458448G>CCA375225000ASS1c.222G>C (p.Trp74Cys)
c.336G>C (p.Trp112Cys)
c.318G>C (p.Trp106Cys)
9g.130458448G>TCA375225002ASS1c.222G>T (p.Trp74Cys)
c.336G>T (p.Trp112Cys)
c.318G>T (p.Trp106Cys)
9g.130458449C>ACA375225004ASS1c.223C>A (p.Pro75Thr)
c.337C>A (p.Pro113Thr)
c.319C>A (p.Pro107Thr)
9g.130458449C>GCA375225006ASS1c.223C>G (p.Pro75Ala)
c.337C>G (p.Pro113Ala)
c.319C>G (p.Pro107Ala)
9g.130458449C>TCA375225007ASS1c.223C>T (p.Pro75Ser)
c.337C>T (p.Pro113Ser)
c.319C>T (p.Pro107Ser)
9g.130458450C>ACA375225011ASS1c.224C>A (p.Pro75Gln)
c.338C>A (p.Pro113Gln)
c.320C>A (p.Pro107Gln)
9g.130458450C=CA1881249951ASS1c.224C= (p.Pro75=)
c.338C= (p.Pro113=)
c.320C= (p.Pro107=)
9g.130458450C>GCA375225013ASS1c.224C>G (p.Pro75Arg)
c.338C>G (p.Pro113Arg)
c.320C>G (p.Pro107Arg)
9g.130458450C>TCA5283199ASS1c.224C>T (p.Pro75Leu)
c.338C>T (p.Pro113Leu)
c.320C>T (p.Pro107Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458450_130458451delinsCGCA1881249950ASS1c.224_225delinsCG (p.Pro75=)
c.338_339delinsCG (p.Pro113=)
c.320_321delinsCG (p.Pro107=)
9g.130458451G>ACA5283200ASS1c.225G>A (p.Pro75=)
c.339G>A (p.Pro113=)
c.321G>A (p.Pro107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458451G>CCA467388489ASS1c.225G>C (p.Pro75=)
c.339G>C (p.Pro113=)
c.321G>C (p.Pro107=)
 dbSNP
9g.130458451G=CA1881249952ASS1c.225G= (p.Pro75=)
c.339G= (p.Pro113=)
c.321G= (p.Pro107=)
9g.130458451G>TCA467388490ASS1c.225G>T (p.Pro75=)
c.339G>T (p.Pro113=)
c.321G>T (p.Pro107=)
9g.130458452delCA16041298ASS1c.226del (p.Ala76ProfsTer?)
c.340del (p.Ala114ProfsTer?)
c.322del (p.Ala108ProfsTer?)
 ClinVar dbSNP
9g.130458452G>ACA375225017ASS1c.226G>A (p.Ala76Thr)
c.340G>A (p.Ala114Thr)
c.322G>A (p.Ala108Thr)
9g.130458452G>CCA375225018ASS1c.226G>C (p.Ala76Pro)
c.340G>C (p.Ala114Pro)
c.322G>C (p.Ala108Pro)
9g.130458452G>TCA375225020ASS1c.226G>T (p.Ala76Ser)
c.340G>T (p.Ala114Ser)
c.322G>T (p.Ala108Ser)
 gnomAD v4
9g.130458453C>ACA375225022ASS1c.227C>A (p.Ala76Asp)
c.341C>A (p.Ala114Asp)
c.323C>A (p.Ala108Asp)
9g.130458453C>GCA375225024ASS1c.227C>G (p.Ala76Gly)
c.341C>G (p.Ala114Gly)
c.323C>G (p.Ala108Gly)
9g.130458453C>TCA375225025ASS1c.227C>T (p.Ala76Val)
c.341C>T (p.Ala114Val)
c.323C>T (p.Ala108Val)
 gnomAD v4
9g.130458454C>ACA467388493ASS1c.228C>A (p.Ala76=)
c.342C>A (p.Ala114=)
c.324C>A (p.Ala108=)
9g.130458454C=CA1881249953ASS1c.228C= (p.Ala76=)
c.342C= (p.Ala114=)
c.324C= (p.Ala108=)
9g.130458454C>GCA467388491ASS1c.228C>G (p.Ala76=)
c.342C>G (p.Ala114=)
c.324C>G (p.Ala108=)
 dbSNP gnomAD v3 gnomAD v4
9g.130458454C>TCA467388492ASS1c.228C>T (p.Ala76=)
c.342C>T (p.Ala114=)
c.324C>T (p.Ala108=)
9g.130458455A=CA1881249954ASS1c.229A= (p.Ile77=)
c.343A= (p.Ile115=)
c.325A= (p.Ile109=)
9g.130458455A>CCA375225028ASS1c.229A>C (p.Ile77Leu)
c.343A>C (p.Ile115Leu)
c.325A>C (p.Ile109Leu)
9g.130458455A>GCA375225030ASS1c.229A>G (p.Ile77Val)
c.343A>G (p.Ile115Val)
c.325A>G (p.Ile109Val)
 dbSNP
9g.130458455A>TCA5283201ASS1c.229A>T (p.Ile77Phe)
c.343A>T (p.Ile115Phe)
c.325A>T (p.Ile109Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458456T>ACA375225032ASS1c.230T>A (p.Ile77Asn)
c.344T>A (p.Ile115Asn)
c.326T>A (p.Ile109Asn)
9g.130458456T>CCA375225035ASS1c.230T>C (p.Ile77Thr)
c.344T>C (p.Ile115Thr)
c.326T>C (p.Ile109Thr)
9g.130458456T>GCA375225037ASS1c.230T>G (p.Ile77Ser)
c.344T>G (p.Ile115Ser)
c.326T>G (p.Ile109Ser)
 gnomAD v4
9g.130458457C>ACA467388494ASS1c.231C>A (p.Ile77=)
c.345C>A (p.Ile115=)
c.327C>A (p.Ile109=)
9g.130458457C>GCA375225039ASS1c.231C>G (p.Ile77Met)
c.345C>G (p.Ile115Met)
c.327C>G (p.Ile109Met)
 ClinVar
9g.130458457C>TCA467388495ASS1c.231C>T (p.Ile77=)
c.345C>T (p.Ile115=)
c.327C>T (p.Ile109=)
9g.130458458C>ACA375225045ASS1c.232C>A (p.Gln78Lys)
c.346C>A (p.Gln116Lys)
c.328C>A (p.Gln110Lys)
9g.130458458C>GCA375225042ASS1c.232C>G (p.Gln78Glu)
c.346C>G (p.Gln116Glu)
c.328C>G (p.Gln110Glu)
9g.130458458C>TCA375225043ASS1c.232C>T (p.Gln78Ter)
c.346C>T (p.Gln116Ter)
c.328C>T (p.Gln110Ter)
9g.130458459A>CCA375225048ASS1c.233A>C (p.Gln78Pro)
c.347A>C (p.Gln116Pro)
c.329A>C (p.Gln110Pro)
9g.130458459A>GCA375225049ASS1c.233A>G (p.Gln78Arg)
c.347A>G (p.Gln116Arg)
c.329A>G (p.Gln110Arg)
9g.130458459A>TCA375225051ASS1c.233A>T (p.Gln78Leu)
c.347A>T (p.Gln116Leu)
c.329A>T (p.Gln110Leu)
9g.130458460G>ACA5283202ASS1c.234G>A (p.Gln78=)
c.348G>A (p.Gln116=)
c.330G>A (p.Gln110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130458460G>CCA375225054ASS1c.234G>C (p.Gln78His)
c.348G>C (p.Gln116His)
c.330G>C (p.Gln110His)
9g.130458460G=CA1881249955ASS1c.234G= (p.Gln78=)
c.348G= (p.Gln116=)
c.330G= (p.Gln110=)
9g.130458460G>TCA375225056ASS1c.234G>T (p.Gln78His)
c.348G>T (p.Gln116His)
c.330G>T (p.Gln110His)
9g.130458461T>ACA375225058ASS1c.235T>A (p.Ser79Thr)
c.349T>A (p.Ser117Thr)
c.331T>A (p.Ser111Thr)
9g.130458461T>CCA375225060ASS1c.235T>C (p.Ser79Pro)
c.349T>C (p.Ser117Pro)
c.331T>C (p.Ser111Pro)
9g.130458461T>GCA375225062ASS1c.235T>G (p.Ser79Ala)
c.349T>G (p.Ser117Ala)
c.331T>G (p.Ser111Ala)
9g.130458462C>ACA375225064ASS1c.236C>A (p.Ser79Tyr)
c.350C>A (p.Ser117Tyr)
c.332C>A (p.Ser111Tyr)
 gnomAD v4
9g.130458462C>GCA375225066ASS1c.236C>G (p.Ser79Cys)
c.350C>G (p.Ser117Cys)
c.332C>G (p.Ser111Cys)
9g.130458462C>TCA375225068ASS1c.236C>T (p.Ser79Phe)
c.350C>T (p.Ser117Phe)
c.332C>T (p.Ser111Phe)
9g.130458463C>ACA467388496ASS1c.237C>A (p.Ser79=)
c.351C>A (p.Ser117=)
c.333C>A (p.Ser111=)
9g.130458463C=CA1881249956ASS1c.237C= (p.Ser79=)
c.351C= (p.Ser117=)
c.333C= (p.Ser111=)
9g.130458463C>GCA467388497ASS1c.237C>G (p.Ser79=)
c.351C>G (p.Ser117=)
c.333C>G (p.Ser111=)
9g.130458463C>TCA5283203ASS1c.237C>T (p.Ser79=)
c.351C>T (p.Ser117=)
c.333C>T (p.Ser111=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458464A>CCA375225075ASS1c.238A>C (p.Ser80Arg)
c.352A>C (p.Ser118Arg)
c.334A>C (p.Ser112Arg)
9g.130458464A>GCA375225072ASS1c.238A>G (p.Ser80Gly)
c.352A>G (p.Ser118Gly)
c.334A>G (p.Ser112Gly)
9g.130458464A>TCA375225073ASS1c.238A>T (p.Ser80Cys)
c.352A>T (p.Ser118Cys)
c.334A>T (p.Ser112Cys)
9g.130458465G>ACA375225078ASS1c.239G>A (p.Ser80Asn)
c.353G>A (p.Ser118Asn)
c.335G>A (p.Ser112Asn)
9g.130458465G>CCA375225079ASS1c.239G>C (p.Ser80Thr)
c.353G>C (p.Ser118Thr)
c.335G>C (p.Ser112Thr)
9g.130458465G>TCA375225081ASS1c.239G>T (p.Ser80Ile)
c.353G>T (p.Ser118Ile)
c.335G>T (p.Ser112Ile)
9g.130458467_130458468delCA2697558100ASS1c.241_242del (p.Ala81ThrfsTer3)
c.355_356del (p.Ala119ThrfsTer3)
c.337_338del (p.Ala113ThrfsTer3)
 ClinVar
9g.130458466C>ACA375225083ASS1c.240C>A (p.Ser80Arg)
c.354C>A (p.Ser118Arg)
c.336C>A (p.Ser112Arg)
 COSMIC
9g.130458466C=CA1881249957ASS1c.240C= (p.Ser80=)
c.354C= (p.Ser118=)
c.336C= (p.Ser112=)
9g.130458466C>GCA375225085ASS1c.240C>G (p.Ser80Arg)
c.354C>G (p.Ser118Arg)
c.336C>G (p.Ser112Arg)
9g.130458466C>TCA5283204ASS1c.240C>T (p.Ser80=)
c.354C>T (p.Ser118=)
c.336C>T (p.Ser112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458467G>ACA5283205ASS1c.241G>A (p.Ala81Thr)
c.355G>A (p.Ala119Thr)
c.337G>A (p.Ala113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458467G>CCA375225088ASS1c.241G>C (p.Ala81Pro)
c.355G>C (p.Ala119Pro)
c.337G>C (p.Ala113Pro)
9g.130458467G=CA1881249958ASS1c.241G= (p.Ala81=)
c.355G= (p.Ala119=)
c.337G= (p.Ala113=)
9g.130458467G>TCA375225090ASS1c.241G>T (p.Ala81Ser)
c.355G>T (p.Ala119Ser)
c.337G>T (p.Ala113Ser)
9g.130458468C>ACA375225093ASS1c.242C>A (p.Ala81Glu)
c.356C>A (p.Ala119Glu)
c.338C>A (p.Ala113Glu)
9g.130458468C=CA1881249959ASS1c.242C= (p.Ala81=)
c.356C= (p.Ala119=)
c.338C= (p.Ala113=)
9g.130458468C>GCA375225095ASS1c.242C>G (p.Ala81Gly)
c.356C>G (p.Ala119Gly)
c.338C>G (p.Ala113Gly)
9g.130458468C>TCA5283206ASS1c.242C>T (p.Ala81Val)
c.356C>T (p.Ala119Val)
c.338C>T (p.Ala113Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458469A>CCA467388499ASS1c.243A>C (p.Ala81=)
c.357A>C (p.Ala119=)
c.339A>C (p.Ala113=)
9g.130458469A>GCA467388500ASS1c.243A>G (p.Ala81=)
c.357A>G (p.Ala119=)
c.339A>G (p.Ala113=)
 gnomAD v4
9g.130458469A>TCA467388498ASS1c.243A>T (p.Ala81=)
c.357A>T (p.Ala119=)
c.339A>T (p.Ala113=)
9g.130458470C>ACA375225098ASS1c.244C>A (p.Leu82Met)
c.358C>A (p.Leu120Met)
c.340C>A (p.Leu114Met)
 gnomAD v4
9g.130458470C>GCA375225100ASS1c.244C>G (p.Leu82Val)
c.358C>G (p.Leu120Val)
c.340C>G (p.Leu114Val)
9g.130458470C>TCA467388501ASS1c.244C>T (p.Leu82=)
c.358C>T (p.Leu120=)
c.340C>T (p.Leu114=)
9g.130458471T>ACA375225105ASS1c.245T>A (p.Leu82Gln)
c.359T>A (p.Leu120Gln)
c.341T>A (p.Leu114Gln)
9g.130458471T>CCA5283207ASS1c.245T>C (p.Leu82Pro)
c.359T>C (p.Leu120Pro)
c.341T>C (p.Leu114Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458471T>GCA375225103ASS1c.245T>G (p.Leu82Arg)
c.359T>G (p.Leu120Arg)
c.341T>G (p.Leu114Arg)
9g.130458471T=CA1881249960ASS1c.245T= (p.Leu82=)
c.359T= (p.Leu120=)
c.341T= (p.Leu114=)
9g.130458472delCA2695199419ASS1c.246del (p.Tyr83MetfsTer?)
c.360del (p.Tyr121MetfsTer?)
c.342del (p.Tyr115MetfsTer?)
 ClinVar
9g.130458472G>ACA5283208ASS1c.246G>A (p.Leu82=)
c.360G>A (p.Leu120=)
c.342G>A (p.Leu114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458472G>CCA467388502ASS1c.246G>C (p.Leu82=)
c.360G>C (p.Leu120=)
c.342G>C (p.Leu114=)
9g.130458472G=CA1881249961ASS1c.246G= (p.Leu82=)
c.360G= (p.Leu120=)
c.342G= (p.Leu114=)
9g.130458472G>TCA467388503ASS1c.246G>T (p.Leu82=)
c.360G>T (p.Leu120=)
c.342G>T (p.Leu114=)
9g.130458473T>ACA375225108ASS1c.247T>A (p.Tyr83Asn)
c.361T>A (p.Tyr121Asn)
c.343T>A (p.Tyr115Asn)
9g.130458473T>CCA5283209ASS1c.247T>C (p.Tyr83His)
c.361T>C (p.Tyr121His)
c.343T>C (p.Tyr115His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458473T>GCA375225111ASS1c.247T>G (p.Tyr83Asp)
c.361T>G (p.Tyr121Asp)
c.343T>G (p.Tyr115Asp)
9g.130458473T=CA1881249962ASS1c.247T= (p.Tyr83=)
c.361T= (p.Tyr121=)
c.343T= (p.Tyr115=)
9g.130458474A>CCA375225114ASS1c.248A>C (p.Tyr83Ser)
c.362A>C (p.Tyr121Ser)
c.344A>C (p.Tyr115Ser)
9g.130458474A>GCA375225116ASS1c.248A>G (p.Tyr83Cys)
c.362A>G (p.Tyr121Cys)
c.344A>G (p.Tyr115Cys)
9g.130458474A>TCA375225117ASS1c.248A>T (p.Tyr83Phe)
c.362A>T (p.Tyr121Phe)
c.344A>T (p.Tyr115Phe)
9g.130458475T>ACA375225118ASS1c.249T>A (p.Tyr83Ter)
c.363T>A (p.Tyr121Ter)
c.345T>A (p.Tyr115Ter)
9g.130458475T>CCA467388504ASS1c.249T>C (p.Tyr83=)
c.363T>C (p.Tyr121=)
c.345T>C (p.Tyr115=)
9g.130458475T>GCA375225120ASS1c.249T>G (p.Tyr83Ter)
c.363T>G (p.Tyr121Ter)
c.345T>G (p.Tyr115Ter)
9g.130458476G>ACA375225122ASS1c.250G>A (p.Glu84Lys)
c.364G>A (p.Glu122Lys)
c.346G>A (p.Glu116Lys)
 ClinVar dbSNP
9g.130458476G>CCA375225124ASS1c.250G>C (p.Glu84Gln)
c.364G>C (p.Glu122Gln)
c.346G>C (p.Glu116Gln)
9g.130458476G=CA1881249963ASS1c.250G= (p.Glu84=)
c.364G= (p.Glu122=)
c.346G= (p.Glu116=)
9g.130458476G>TCA375225126ASS1c.250G>T (p.Glu84Ter)
c.364G>T (p.Glu122Ter)
c.346G>T (p.Glu116Ter)
9g.130458477A>CCA375225128ASS1c.251A>C (p.Glu84Ala)
c.365A>C (p.Glu122Ala)
c.347A>C (p.Glu116Ala)
9g.130458477A>GCA375225131ASS1c.251A>G (p.Glu84Gly)
c.365A>G (p.Glu122Gly)
c.347A>G (p.Glu116Gly)
9g.130458477A>TCA375225129ASS1c.251A>T (p.Glu84Val)
c.365A>T (p.Glu122Val)
c.347A>T (p.Glu116Val)
9g.130458478G>ACA467388505ASS1c.252G>A (p.Glu84=)
c.366G>A (p.Glu122=)
c.348G>A (p.Glu116=)
 gnomAD v4
9g.130458478G>CCA375225133ASS1c.252G>C (p.Glu84Asp)
c.366G>C (p.Glu122Asp)
c.348G>C (p.Glu116Asp)
9g.130458478G>TCA375225135ASS1c.252G>T (p.Glu84Asp)
c.366G>T (p.Glu122Asp)
c.348G>T (p.Glu116Asp)
9g.130458479G>ACA375225138ASS1c.253G>A (p.Asp85Asn)
c.367G>A (p.Asp123Asn)
c.349G>A (p.Asp117Asn)
9g.130458479G>CCA375225140ASS1c.253G>C (p.Asp85His)
c.367G>C (p.Asp123His)
c.349G>C (p.Asp117His)
9g.130458479G>TCA375225142ASS1c.253G>T (p.Asp85Tyr)
c.367G>T (p.Asp123Tyr)
c.349G>T (p.Asp117Tyr)
 COSMIC
9g.130458480A=CA1881249964ASS1c.254A= (p.Asp85=)
c.368A= (p.Asp123=)
c.350A= (p.Asp117=)
9g.130458480A>CCA375225144ASS1c.254A>C (p.Asp85Ala)
c.368A>C (p.Asp123Ala)
c.350A>C (p.Asp117Ala)
9g.130458480A>GCA200608034ASS1c.254A>G (p.Asp85Gly)
c.368A>G (p.Asp123Gly)
c.350A>G (p.Asp117Gly)
 dbSNP
9g.130458480A>TCA375225147ASS1c.254A>T (p.Asp85Val)
c.368A>T (p.Asp123Val)
c.350A>T (p.Asp117Val)
9g.130458481C>ACA375225149ASS1c.255C>A (p.Asp85Glu)
c.369C>A (p.Asp123Glu)
c.351C>A (p.Asp117Glu)
9g.130458481C>GCA375225151ASS1c.255C>G (p.Asp85Glu)
c.369C>G (p.Asp123Glu)
c.351C>G (p.Asp117Glu)
9g.130458481C>TCA467388506ASS1c.255C>T (p.Asp85=)
c.369C>T (p.Asp123=)
c.351C>T (p.Asp117=)
9g.130458482C>ACA375225154ASS1c.256C>A (p.Arg86Ser)
c.370C>A (p.Arg124Ser)
c.352C>A (p.Arg118Ser)
9g.130458482C=CA1881249965ASS1c.256C= (p.Arg86=)
c.370C= (p.Arg124=)
c.352C= (p.Arg118=)
9g.130458482C>GCA375225155ASS1c.256C>G (p.Arg86Gly)
c.370C>G (p.Arg124Gly)
c.352C>G (p.Arg118Gly)
9g.130458482C>TCA253837ASS1c.256C>T (p.Arg86Cys)
c.370C>T (p.Arg124Cys)
c.352C>T (p.Arg118Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458483G>ACA5283210ASS1c.257G>A (p.Arg86His)
c.371G>A (p.Arg124His)
c.353G>A (p.Arg118His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458483G>CCA375225157ASS1c.257G>C (p.Arg86Pro)
c.371G>C (p.Arg124Pro)
c.353G>C (p.Arg118Pro)
9g.130458483G=CA1881249966ASS1c.257G= (p.Arg86=)
c.371G= (p.Arg124=)
c.353G= (p.Arg118=)
9g.130458483G>TCA375225156ASS1c.257G>T (p.Arg86Leu)
c.371G>T (p.Arg124Leu)
c.353G>T (p.Arg118Leu)
9g.130458484C>ACA467388507ASS1c.258C>A (p.Arg86=)
c.372C>A (p.Arg124=)
c.354C>A (p.Arg118=)
 dbSNP COSMIC
9g.130458484C=CA1881249967ASS1c.258C= (p.Arg86=)
c.372C= (p.Arg124=)
c.354C= (p.Arg118=)
9g.130458484C>GCA467388508ASS1c.258C>G (p.Arg86=)
c.372C>G (p.Arg124=)
c.354C>G (p.Arg118=)
9g.130458484C>TCA467388509ASS1c.258C>T (p.Arg86=)
c.372C>T (p.Arg124=)
c.354C>T (p.Arg118=)
 ClinVar gnomAD v4
9g.130458485T>ACA375225158ASS1c.259T>A (p.Tyr87Asn)
c.373T>A (p.Tyr125Asn)
c.355T>A (p.Tyr119Asn)
9g.130458485T>CCA375225159ASS1c.259T>C (p.Tyr87His)
c.373T>C (p.Tyr125His)
c.355T>C (p.Tyr119His)
9g.130458485T>GCA375225160ASS1c.259T>G (p.Tyr87Asp)
c.373T>G (p.Tyr125Asp)
c.355T>G (p.Tyr119Asp)
9g.130458486A=CA1881249968ASS1c.260A= (p.Tyr87=)
c.374A= (p.Tyr125=)
c.356A= (p.Tyr119=)
9g.130458486A>CCA375225161ASS1c.260A>C (p.Tyr87Ser)
c.374A>C (p.Tyr125Ser)
c.356A>C (p.Tyr119Ser)
9g.130458486A>GCA375225162ASS1c.260A>G (p.Tyr87Cys)
c.374A>G (p.Tyr125Cys)
c.356A>G (p.Tyr119Cys)
9g.130458486A>TCA5283211ASS1c.260A>T (p.Tyr87Phe)
c.374A>T (p.Tyr125Phe)
c.356A>T (p.Tyr119Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458486_130458487delinsACCA1881249969ASS1c.260_261delinsAC (p.Tyr87=)
c.374_375delinsAC (p.Tyr125=)
c.356_357delinsAC (p.Tyr119=)
9g.130458487C>ACA375225163ASS1c.261C>A (p.Tyr87Ter)
c.375C>A (p.Tyr125Ter)
c.357C>A (p.Tyr119Ter)
9g.130458487C=CA1881249970ASS1c.261C= (p.Tyr87=)
c.375C= (p.Tyr125=)
c.357C= (p.Tyr119=)
9g.130458487C>GCA375225164ASS1c.261C>G (p.Tyr87Ter)
c.375C>G (p.Tyr125Ter)
c.357C>G (p.Tyr119Ter)
9g.130458487C>TCA5283212ASS1c.261C>T (p.Tyr87=)
c.375C>T (p.Tyr125=)
c.357C>T (p.Tyr119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458488delCA915947573ASS1c.262del (p.Leu88SerfsTer?)
c.376del (p.Leu126SerfsTer?)
c.358del (p.Leu120SerfsTer?)
 ClinVar dbSNP
9g.130458488C>ACA200608041ASS1c.262C>A (p.Leu88Ile)
c.376C>A (p.Leu126Ile)
c.358C>A (p.Leu120Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458488C=CA1881249971ASS1c.262C= (p.Leu88=)
c.376C= (p.Leu126=)
c.358C= (p.Leu120=)
9g.130458488C>GCA375225165ASS1c.262C>G (p.Leu88Val)
c.376C>G (p.Leu126Val)
c.358C>G (p.Leu120Val)
9g.130458488C>TCA375225166ASS1c.262C>T (p.Leu88Phe)
c.376C>T (p.Leu126Phe)
c.358C>T (p.Leu120Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.130458489T>ACA375225168ASS1c.263T>A (p.Leu88His)
c.377T>A (p.Leu126His)
c.359T>A (p.Leu120His)
9g.130458489T>CCA375225169ASS1c.263T>C (p.Leu88Pro)
c.377T>C (p.Leu126Pro)
c.359T>C (p.Leu120Pro)
 gnomAD v4
9g.130458489T>GCA375225167ASS1c.263T>G (p.Leu88Arg)
c.377T>G (p.Leu126Arg)
c.359T>G (p.Leu120Arg)

Number of alleles fetched