Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.156508616_156508618delinsGTCA2580073935SGCDc.208_210delinsGT (p.Leu70ValfsTer8)
c.205_207delinsGT (p.Leu69ValfsTer8)
c.*72_*74delinsGT (n.*72_*74delinsGT)
 ClinVar
5g.156508618G>ACA447387906SGCDc.210G>A (p.Leu70=)
c.207G>A (p.Leu69=)
c.*74G>A (n.*74G>A)
5g.156508618G>CCA447387904SGCDc.210G>C (p.Leu70=)
c.207G>C (p.Leu69=)
c.*74G>C (n.*74G>C)
5g.156508618G>TCA447387905SGCDc.210G>T (p.Leu70=)
c.207G>T (p.Leu69=)
c.*74G>T (n.*74G>T)
5g.156508619A>CCA447387907SGCDc.211A>C (p.Arg71=)
c.208A>C (p.Arg70=)
c.*75A>C (n.*75A>C)
5g.156508619A>GCA362007954SGCDc.211A>G (p.Arg71Gly)
c.208A>G (p.Arg70Gly)
c.*75A>G (n.*75A>G)
5g.156508619A>TCA362007955SGCDc.211A>T (p.Arg71Trp)
c.208A>T (p.Arg70Trp)
c.*75A>T (n.*75A>T)
5g.156508619_156508620delinsAGCA1593738828SGCDc.211_212delinsAG (p.Arg71=)
c.208_209delinsAG (p.Arg70=)
c.*75_*76delinsAG (n.*75_*76delinsAG)
5g.156508620G>ACA362007956SGCDc.212G>A (p.Arg71Lys)
c.209G>A (p.Arg70Lys)
c.*76G>A (n.*76G>A)
 COSMIC COSMIC
5g.156508620G>CCA3530538SGCDc.212G>C (p.Arg71Thr)
c.209G>C (p.Arg70Thr)
c.*76G>C (n.*76G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508620G=CA1593738829SGCDc.212G= (p.Arg71=)
c.209G= (p.Arg70=)
c.*76G= (n.*76G=)
5g.156508620G>TCA362007957SGCDc.212G>T (p.Arg71Met)
c.209G>T (p.Arg70Met)
c.*76G>T (n.*76G>T)
5g.156508621delCA563931217SGCDc.213del (p.Ile72SerfsTer6)
c.210del (p.Ile71SerfsTer6)
c.*77del (n.*77del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156508621G>ACA142621SGCDc.213G>A (p.Arg71=)
c.210G>A (p.Arg70=)
c.*77G>A (n.*77G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508621G>CCA362007958SGCDc.213G>C (p.Arg71Ser)
c.210G>C (p.Arg70Ser)
c.*77G>C (n.*77G>C)
5g.156508621G=CA1593738830SGCDc.213G= (p.Arg71=)
c.210G= (p.Arg70=)
c.*77G= (n.*77G=)
5g.156508621G>TCA362007959SGCDc.213G>T (p.Arg71Ser)
c.210G>T (p.Arg70Ser)
c.*77G>T (n.*77G>T)
5g.156508622A>CCA362007960SGCDc.214A>C (p.Ile72Leu)
c.211A>C (p.Ile71Leu)
c.*78A>C (n.*78A>C)
5g.156508622A>GCA362007961SGCDc.214A>G (p.Ile72Val)
c.211A>G (p.Ile71Val)
c.*78A>G (n.*78A>G)
 gnomAD v4
5g.156508622A>TCA362007962SGCDc.214A>T (p.Ile72Phe)
c.211A>T (p.Ile71Phe)
c.*78A>T (n.*78A>T)
5g.156508623T>ACA362007965SGCDc.215T>A (p.Ile72Asn)
c.212T>A (p.Ile71Asn)
c.*79T>A (n.*79T>A)
5g.156508623T>CCA362007964SGCDc.215T>C (p.Ile72Thr)
c.212T>C (p.Ile71Thr)
c.*79T>C (n.*79T>C)
5g.156508623T>GCA362007963SGCDc.215T>G (p.Ile72Ser)
c.212T>G (p.Ile71Ser)
c.*79T>G (n.*79T>G)
5g.156508624C>ACA447387908SGCDc.216C>A (p.Ile72=)
c.213C>A (p.Ile71=)
c.*80C>A (n.*80C>A)
5g.156508624C>GCA362007966SGCDc.216C>G (p.Ile72Met)
c.213C>G (p.Ile71Met)
c.*80C>G (n.*80C>G)
5g.156508624C>TCA447387909SGCDc.216C>T (p.Ile72=)
c.213C>T (p.Ile71=)
c.*80C>T (n.*80C>T)
5g.156508625A>CCA362007967SGCDc.217A>C (p.Thr73Pro)
c.214A>C (p.Thr72Pro)
c.*81A>C (n.*81A>C)
5g.156508625A>GCA362007968SGCDc.217A>G (p.Thr73Ala)
c.214A>G (p.Thr72Ala)
c.*81A>G (n.*81A>G)
5g.156508625A>TCA362007969SGCDc.217A>T (p.Thr73Ser)
c.214A>T (p.Thr72Ser)
c.*81A>T (n.*81A>T)
5g.156508626C>ACA362007970SGCDc.218C>A (p.Thr73Lys)
c.215C>A (p.Thr72Lys)
c.*82C>A (n.*82C>A)
 gnomAD v4
5g.156508626C>GCA362007971SGCDc.218C>G (p.Thr73Arg)
c.215C>G (p.Thr72Arg)
c.*82C>G (n.*82C>G)
 COSMIC COSMIC
5g.156508626C>TCA362007972SGCDc.218C>T (p.Thr73Ile)
c.215C>T (p.Thr72Ile)
c.*82C>T (n.*82C>T)
5g.156508627A>CCA447387910SGCDc.219A>C (p.Thr73=)
c.216A>C (p.Thr72=)
c.*83A>C (n.*83A>C)
5g.156508627A>GCA447387911SGCDc.219A>G (p.Thr73=)
c.216A>G (p.Thr72=)
c.*83A>G (n.*83A>G)
 ClinVar
5g.156508627A>TCA447387912SGCDc.219A>T (p.Thr73=)
c.216A>T (p.Thr72=)
c.*83A>T (n.*83A>T)
5g.156508628G>ACA362007973SGCDc.220G>A (p.Glu74Lys)
c.217G>A (p.Glu73Lys)
c.*84G>A (n.*84G>A)
5g.156508628G>CCA362007974SGCDc.220G>C (p.Glu74Gln)
c.217G>C (p.Glu73Gln)
c.*84G>C (n.*84G>C)
5g.156508628G>TCA362007975SGCDc.220G>T (p.Glu74Ter)
c.217G>T (p.Glu73Ter)
c.*84G>T (n.*84G>T)
5g.156508629A>CCA362007978SGCDc.221A>C (p.Glu74Ala)
c.218A>C (p.Glu73Ala)
c.*85A>C (n.*85A>C)
5g.156508629A>GCA362007977SGCDc.221A>G (p.Glu74Gly)
c.218A>G (p.Glu73Gly)
c.*85A>G (n.*85A>G)
5g.156508629A>TCA362007976SGCDc.221A>T (p.Glu74Val)
c.218A>T (p.Glu73Val)
c.*85A>T (n.*85A>T)
 gnomAD v4
5g.156508633delCA2578464704SGCDc.225del (p.Gly76ValfsTer2)
c.222del (p.Gly75ValfsTer2)
c.*89del (n.*89del)
 gnomAD v4
5g.156508630A=CA1593738831SGCDc.222A= (p.Glu74=)
c.219A= (p.Glu73=)
c.*86A= (n.*86A=)
5g.156508630A>CCA362007979SGCDc.222A>C (p.Glu74Asp)
c.219A>C (p.Glu73Asp)
c.*86A>C (n.*86A>C)
5g.156508630A>GCA447387913SGCDc.222A>G (p.Glu74=)
c.219A>G (p.Glu73=)
c.*86A>G (n.*86A>G)
 dbSNP
5g.156508630A>TCA362007980SGCDc.222A>T (p.Glu74Asp)
c.219A>T (p.Glu73Asp)
c.*86A>T (n.*86A>T)
5g.156508631A>CCA362007981SGCDc.223A>C (p.Lys75Gln)
c.220A>C (p.Lys74Gln)
c.*87A>C (n.*87A>C)
5g.156508631A>GCA362007982SGCDc.223A>G (p.Lys75Glu)
c.220A>G (p.Lys74Glu)
c.*87A>G (n.*87A>G)
5g.156508631A>TCA362007983SGCDc.223A>T (p.Lys75Ter)
c.220A>T (p.Lys74Ter)
c.*87A>T (n.*87A>T)
5g.156508632A>CCA362007984SGCDc.224A>C (p.Lys75Thr)
c.221A>C (p.Lys74Thr)
c.*88A>C (n.*88A>C)
5g.156508632A>GCA362007985SGCDc.224A>G (p.Lys75Arg)
c.221A>G (p.Lys74Arg)
c.*88A>G (n.*88A>G)
5g.156508632A>TCA362007986SGCDc.224A>T (p.Lys75Ile)
c.221A>T (p.Lys74Ile)
c.*88A>T (n.*88A>T)
5g.156508633A>CCA362007987SGCDc.225A>C (p.Lys75Asn)
c.222A>C (p.Lys74Asn)
c.*89A>C (n.*89A>C)
5g.156508633A>GCA447387914SGCDc.225A>G (p.Lys75=)
c.222A>G (p.Lys74=)
c.*89A>G (n.*89A>G)
 gnomAD v4
5g.156508633A>TCA362007988SGCDc.225A>T (p.Lys75Asn)
c.222A>T (p.Lys74Asn)
c.*89A>T (n.*89A>T)
5g.156508634G>ACA362007989SGCDc.226G>A (p.Gly76Ser)
c.223G>A (p.Gly75Ser)
c.*90G>A (n.*90G>A)
 gnomAD v4
5g.156508634G>CCA130613349SGCDc.226G>C (p.Gly76Arg)
c.223G>C (p.Gly75Arg)
c.*90G>C (n.*90G>C)
 dbSNP gnomAD v4
5g.156508634G=CA1593738832SGCDc.226G= (p.Gly76=)
c.223G= (p.Gly75=)
c.*90G= (n.*90G=)
5g.156508634G>TCA211885SGCDc.226G>T (p.Gly76Cys)
c.223G>T (p.Gly75Cys)
c.*90G>T (n.*90G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508635delCA2695198786SGCDc.227del (p.Gly76ValfsTer2)
c.224del (p.Gly75ValfsTer2)
c.*91del (n.*91del)
 ClinVar
5g.156508635G>ACA362007990SGCDc.227G>A (p.Gly76Asp)
c.224G>A (p.Gly75Asp)
c.*91G>A (n.*91G>A)
5g.156508635G>CCA362007991SGCDc.227G>C (p.Gly76Ala)
c.224G>C (p.Gly75Ala)
c.*91G>C (n.*91G>C)
5g.156508635G>TCA362007992SGCDc.227G>T (p.Gly76Val)
c.224G>T (p.Gly75Val)
c.*91G>T (n.*91G>T)
 COSMIC COSMIC
5g.156508636T>ACA447387915SGCDc.228T>A (p.Gly76=)
c.225T>A (p.Gly75=)
c.*92T>A (n.*92T>A)
5g.156508636T>CCA447387916SGCDc.228T>C (p.Gly76=)
c.225T>C (p.Gly75=)
c.*92T>C (n.*92T>C)
5g.156508636T>GCA447387917SGCDc.228T>G (p.Gly76=)
c.225T>G (p.Gly75=)
c.*92T>G (n.*92T>G)
5g.156508637C>ACA362007993SGCDc.229C>A (p.Leu77Ile)
c.226C>A (p.Leu76Ile)
c.*93C>A (n.*93C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156508637C=CA1593738833SGCDc.229C= (p.Leu77=)
c.226C= (p.Leu76=)
c.*93C= (n.*93C=)
5g.156508637C>GCA362007994SGCDc.229C>G (p.Leu77Val)
c.226C>G (p.Leu76Val)
c.*93C>G (n.*93C>G)
5g.156508637C>TCA447387918SGCDc.229C>T (p.Leu77=)
c.226C>T (p.Leu76=)
c.*93C>T (n.*93C>T)
5g.156508638T>ACA362007995SGCDc.230T>A (p.Leu77Gln)
c.227T>A (p.Leu76Gln)
c.*94T>A (n.*94T>A)
5g.156508638T>CCA362007996SGCDc.230T>C (p.Leu77Pro)
c.227T>C (p.Leu76Pro)
c.*94T>C (n.*94T>C)
5g.156508638T>GCA362007997SGCDc.230T>G (p.Leu77Arg)
c.227T>G (p.Leu76Arg)
c.*94T>G (n.*94T>G)
5g.156508639A=CA1593738834SGCDc.231A= (p.Leu77=)
c.228A= (p.Leu76=)
c.*95A= (n.*95A=)
5g.156508639A>CCA447387919SGCDc.231A>C (p.Leu77=)
c.228A>C (p.Leu76=)
c.*95A>C (n.*95A>C)
5g.156508639A>GCA447387921SGCDc.231A>G (p.Leu77=)
c.228A>G (p.Leu76=)
c.*95A>G (n.*95A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.156508639A>TCA447387920SGCDc.231A>T (p.Leu77=)
c.228A>T (p.Leu76=)
c.*95A>T (n.*95A>T)
5g.156508640A>CCA362007998SGCDc.232A>C (p.Lys78Gln)
c.229A>C (p.Lys77Gln)
c.*96A>C (n.*96A>C)
 ClinVar
5g.156508640A>GCA362007999SGCDc.232A>G (p.Lys78Glu)
c.229A>G (p.Lys77Glu)
c.*96A>G (n.*96A>G)
5g.156508640A>TCA362008000SGCDc.232A>T (p.Lys78Ter)
c.229A>T (p.Lys77Ter)
c.*96A>T (n.*96A>T)
5g.156508641A>CCA362008001SGCDc.233A>C (p.Lys78Thr)
c.230A>C (p.Lys77Thr)
c.*97A>C (n.*97A>C)
5g.156508641A>GCA362008003SGCDc.233A>G (p.Lys78Arg)
c.230A>G (p.Lys77Arg)
c.*97A>G (n.*97A>G)
5g.156508641A>TCA362008002SGCDc.233A>T (p.Lys78Met)
c.230A>T (p.Lys77Met)
c.*97A>T (n.*97A>T)
5g.156508642G>ACA447387922SGCDc.234G>A (p.Lys78=)
c.231G>A (p.Lys77=)
c.*98G>A (n.*98G>A)
 ClinVar
5g.156508642G>CCA362008004SGCDc.234G>C (p.Lys78Asn)
c.231G>C (p.Lys77Asn)
c.*98G>C (n.*98G>C)
5g.156508642G>TCA362008005SGCDc.234G>T (p.Lys78Asn)
c.231G>T (p.Lys77Asn)
c.*98G>T (n.*98G>T)
5g.156508643C>ACA362008006SGCDc.235C>A (p.Leu79Ile)
c.232C>A (p.Leu78Ile)
c.*99C>A (n.*99C>A)
5g.156508643C>GCA362008007SGCDc.235C>G (p.Leu79Val)
c.232C>G (p.Leu78Val)
c.*99C>G (n.*99C>G)
5g.156508643C>TCA447387923SGCDc.235C>T (p.Leu79=)
c.232C>T (p.Leu78=)
c.*99C>T (n.*99C>T)
5g.156508644T>ACA362008008SGCDc.236T>A (p.Leu79Gln)
c.233T>A (p.Leu78Gln)
c.*100T>A (n.*100T>A)
5g.156508644T>CCA362008009SGCDc.236T>C (p.Leu79Pro)
c.233T>C (p.Leu78Pro)
c.*100T>C (n.*100T>C)
 gnomAD v4
5g.156508644T>GCA362008010SGCDc.236T>G (p.Leu79Arg)
c.233T>G (p.Leu78Arg)
c.*100T>G (n.*100T>G)
5g.156508645A=CA1593738835SGCDc.237A= (p.Leu79=)
c.234A= (p.Leu78=)
c.*101A= (n.*101A=)
5g.156508645A>CCA447387924SGCDc.237A>C (p.Leu79=)
c.234A>C (p.Leu78=)
c.*101A>C (n.*101A>C)
5g.156508645A>GCA3530539SGCDc.237A>G (p.Leu79=)
c.234A>G (p.Leu78=)
c.*101A>G (n.*101A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508645A>TCA447387925SGCDc.237A>T (p.Leu79=)
c.234A>T (p.Leu78=)
c.*101A>T (n.*101A>T)
5g.156508646G>ACA362008011SGCDc.238G>A (p.Glu80Lys)
c.235G>A (p.Glu79Lys)
c.*102G>A (n.*102G>A)
 COSMIC COSMIC
5g.156508646G>CCA362008013SGCDc.238G>C (p.Glu80Gln)
c.235G>C (p.Glu79Gln)
c.*102G>C (n.*102G>C)
 gnomAD v4
5g.156508646G>TCA362008012SGCDc.238G>T (p.Glu80Ter)
c.235G>T (p.Glu79Ter)
c.*102G>T (n.*102G>T)
5g.156508647A>CCA362008014SGCDc.239A>C (p.Glu80Ala)
c.236A>C (p.Glu79Ala)
c.*103A>C (n.*103A>C)
5g.156508647A>GCA362008016SGCDc.239A>G (p.Glu80Gly)
c.236A>G (p.Glu79Gly)
c.*103A>G (n.*103A>G)
5g.156508647A>TCA362008015SGCDc.239A>T (p.Glu80Val)
c.236A>T (p.Glu79Val)
c.*103A>T (n.*103A>T)
5g.156508647_156508650delinsAAGGCA1593738836SGCDc.239_242delinsAAGG (p.Glu80=)
c.236_239delinsAAGG (p.Glu79=)
c.*103_*106delinsAAGG (n.*103_*106delinsAAGG)
5g.156508648A>CCA362008017SGCDc.240A>C (p.Glu80Asp)
c.237A>C (p.Glu79Asp)
c.*104A>C (n.*104A>C)
5g.156508648A>GCA447387926SGCDc.240A>G (p.Glu80=)
c.237A>G (p.Glu79=)
c.*104A>G (n.*104A>G)
 ClinVar gnomAD v4
5g.156508648A>TCA362008018SGCDc.240A>T (p.Glu80Asp)
c.237A>T (p.Glu79Asp)
c.*104A>T (n.*104A>T)
5g.156508650_156508652delCA308794SGCDc.242_244del (p.Gly81del)
c.239_241del (p.Gly80del)
c.*106_*108del (n.*106_*108del)
 ClinVar dbSNP
5g.156508649G>ACA362008021SGCDc.241G>A (p.Gly81Arg)
c.238G>A (p.Gly80Arg)
c.*105G>A (n.*105G>A)
 COSMIC
5g.156508649G>CCA362008019SGCDc.241G>C (p.Gly81Arg)
c.238G>C (p.Gly80Arg)
c.*105G>C (n.*105G>C)
5g.156508649G>TCA362008020SGCDc.241G>T (p.Gly81Ter)
c.238G>T (p.Gly80Ter)
c.*105G>T (n.*105G>T)
5g.156508650G>ACA362008022SGCDc.242G>A (p.Gly81Glu)
c.239G>A (p.Gly80Glu)
c.*106G>A (n.*106G>A)
 gnomAD v4 COSMIC COSMIC
5g.156508650G>CCA362008023SGCDc.242G>C (p.Gly81Ala)
c.239G>C (p.Gly80Ala)
c.*106G>C (n.*106G>C)
 ClinVar dbSNP gnomAD v4
5g.156508650G>TCA362008024SGCDc.242G>T (p.Gly81Val)
c.239G>T (p.Gly80Val)
c.*106G>T (n.*106G>T)
5g.156508651A=CA1593738837SGCDc.243A= (p.Gly81=)
c.240A= (p.Gly80=)
c.*107A= (n.*107A=)
5g.156508651A>CCA447387927SGCDc.243A>C (p.Gly81=)
c.240A>C (p.Gly80=)
c.*107A>C (n.*107A>C)
5g.156508651A>GCA3530540SGCDc.243A>G (p.Gly81=)
c.240A>G (p.Gly80=)
c.*107A>G (n.*107A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508651A>TCA447387928SGCDc.243A>T (p.Gly81=)
c.240A>T (p.Gly80=)
c.*107A>T (n.*107A>T)
5g.156508652G>ACA362008027SGCDc.244G>A (p.Asp82Asn)
c.241G>A (p.Asp81Asn)
c.*108G>A (n.*108G>A)
5g.156508652G>CCA362008026SGCDc.244G>C (p.Asp82His)
c.241G>C (p.Asp81His)
c.*108G>C (n.*108G>C)
5g.156508652G>TCA362008025SGCDc.244G>T (p.Asp82Tyr)
c.241G>T (p.Asp81Tyr)
c.*108G>T (n.*108G>T)
5g.156508653A>CCA362008028SGCDc.245A>C (p.Asp82Ala)
c.242A>C (p.Asp81Ala)
c.*109A>C (n.*109A>C)
5g.156508653A>GCA362008029SGCDc.245A>G (p.Asp82Gly)
c.242A>G (p.Asp81Gly)
c.*109A>G (n.*109A>G)
5g.156508653A>TCA362008030SGCDc.245A>T (p.Asp82Val)
c.242A>T (p.Asp81Val)
c.*109A>T (n.*109A>T)
5g.156508653_156508655delinsACTCA1593738838SGCDc.245_247delinsACT (p.Asp82=)
c.242_244delinsACT (p.Asp81=)
c.*109_*111delinsACT (n.*109_*111delinsACT)
5g.156508654C>ACA362008031SGCDc.246C>A (p.Asp82Glu)
c.243C>A (p.Asp81Glu)
c.*110C>A (n.*110C>A)
5g.156508654C>GCA362008032SGCDc.246C>G (p.Asp82Glu)
c.243C>G (p.Asp81Glu)
c.*110C>G (n.*110C>G)
 gnomAD v4
5g.156508654C>TCA447387929SGCDc.246C>T (p.Asp82=)
c.243C>T (p.Asp81=)
c.*110C>T (n.*110C>T)
5g.156508656_156508657delCA917616483SGCDc.248_249del (p.Ser83Ter)
c.245_246del (p.Ser82Ter)
c.*112_*113del (n.*112_*113del)
 ClinVar dbSNP
5g.156508655T>ACA362008033SGCDc.247T>A (p.Ser83Thr)
c.244T>A (p.Ser82Thr)
c.*111T>A (n.*111T>A)
5g.156508655T>CCA362008034SGCDc.247T>C (p.Ser83Pro)
c.244T>C (p.Ser82Pro)
c.*111T>C (n.*111T>C)
5g.156508655T>GCA362008035SGCDc.247T>G (p.Ser83Ala)
c.244T>G (p.Ser82Ala)
c.*111T>G (n.*111T>G)
 gnomAD v4
5g.156508656C>ACA362008037SGCDc.248C>A (p.Ser83Tyr)
c.245C>A (p.Ser82Tyr)
c.*112C>A (n.*112C>A)
 COSMIC
5g.156508656C>GCA362008038SGCDc.248C>G (p.Ser83Cys)
c.245C>G (p.Ser82Cys)
c.*112C>G (n.*112C>G)
5g.156508656C>TCA362008036SGCDc.248C>T (p.Ser83Phe)
c.245C>T (p.Ser82Phe)
c.*112C>T (n.*112C>T)
5g.156508657T>ACA447387930SGCDc.249T>A (p.Ser83=)
c.246T>A (p.Ser82=)
c.*113T>A (n.*113T>A)
5g.156508657T>CCA447387931SGCDc.249T>C (p.Ser83=)
c.246T>C (p.Ser82=)
c.*113T>C (n.*113T>C)
5g.156508657T>GCA447387932SGCDc.249T>G (p.Ser83=)
c.246T>G (p.Ser82=)
c.*113T>G (n.*113T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156508657T=CA1593738839SGCDc.249T= (p.Ser83=)
c.246T= (p.Ser82=)
c.*113T= (n.*113T=)
5g.156508658G>ACA362008039SGCDc.250G>A (p.Glu84Lys)
c.247G>A (p.Glu83Lys)
c.*114G>A (n.*114G>A)
5g.156508658G>CCA362008040SGCDc.250G>C (p.Glu84Gln)
c.247G>C (p.Glu83Gln)
c.*114G>C (n.*114G>C)
5g.156508658G>TCA362008041SGCDc.250G>T (p.Glu84Ter)
c.247G>T (p.Glu83Ter)
c.*114G>T (n.*114G>T)
 COSMIC COSMIC
5g.156508659A>CCA362008042SGCDc.251A>C (p.Glu84Ala)
c.248A>C (p.Glu83Ala)
c.*115A>C (n.*115A>C)
5g.156508659A>GCA362008043SGCDc.251A>G (p.Glu84Gly)
c.248A>G (p.Glu83Gly)
c.*115A>G (n.*115A>G)
5g.156508659A>TCA362008044SGCDc.251A>T (p.Glu84Val)
c.248A>T (p.Glu83Val)
c.*115A>T (n.*115A>T)
5g.156508660dupCA2578464705SGCDc.252dup (p.Phe85IlefsTer16)
c.249dup (p.Phe84IlefsTer16)
c.*116dup (n.*116dup)
5g.156508660A>CCA362008045SGCDc.252A>C (p.Glu84Asp)
c.249A>C (p.Glu83Asp)
c.*116A>C (n.*116A>C)
5g.156508660A>GCA447387933SGCDc.252A>G (p.Glu84=)
c.249A>G (p.Glu83=)
c.*116A>G (n.*116A>G)
5g.156508660A>TCA362008046SGCDc.252A>T (p.Glu84Asp)
c.249A>T (p.Glu83Asp)
c.*116A>T (n.*116A>T)
5g.156508661T>ACA362008049SGCDc.253T>A (p.Phe85Ile)
c.250T>A (p.Phe84Ile)
c.*117T>A (n.*117T>A)
5g.156508661T>CCA362008048SGCDc.253T>C (p.Phe85Leu)
c.250T>C (p.Phe84Leu)
c.*117T>C (n.*117T>C)
5g.156508661T>GCA362008047SGCDc.253T>G (p.Phe85Val)
c.250T>G (p.Phe84Val)
c.*117T>G (n.*117T>G)
 gnomAD v4
5g.156508662T>ACA362008050SGCDc.254T>A (p.Phe85Tyr)
c.251T>A (p.Phe84Tyr)
c.*118T>A (n.*118T>A)
5g.156508662T>CCA362008051SGCDc.254T>C (p.Phe85Ser)
c.251T>C (p.Phe84Ser)
c.*118T>C (n.*118T>C)
5g.156508662T>GCA362008052SGCDc.254T>G (p.Phe85Cys)
c.251T>G (p.Phe84Cys)
c.*118T>G (n.*118T>G)
5g.156508663C>ACA362008053SGCDc.255C>A (p.Phe85Leu)
c.252C>A (p.Phe84Leu)
c.*119C>A (n.*119C>A)
5g.156508663C=CA1593738840SGCDc.255C= (p.Phe85=)
c.252C= (p.Phe84=)
c.*119C= (n.*119C=)
5g.156508663C>GCA362008054SGCDc.255C>G (p.Phe85Leu)
c.252C>G (p.Phe84Leu)
c.*119C>G (n.*119C>G)
 gnomAD v4
5g.156508663C>TCA3530541SGCDc.255C>T (p.Phe85=)
c.252C>T (p.Phe84=)
c.*119C>T (n.*119C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.156508664T>ACA362008055SGCDc.256T>A (p.Leu86Ile)
c.253T>A (p.Leu85Ile)
c.*120T>A (n.*120T>A)
5g.156508664T>CCA447387934SGCDc.256T>C (p.Leu86=)
c.253T>C (p.Leu85=)
c.*120T>C (n.*120T>C)
5g.156508664T>GCA362008056SGCDc.256T>G (p.Leu86Val)
c.253T>G (p.Leu85Val)
c.*120T>G (n.*120T>G)
5g.156508665T>ACA362008057SGCDc.257T>A (p.Leu86Ter)
c.254T>A (p.Leu85Ter)
c.*121T>A (n.*121T>A)
5g.156508665T>CCA362008058SGCDc.257T>C (p.Leu86Ser)
c.254T>C (p.Leu85Ser)
c.*121T>C (n.*121T>C)
5g.156508665T>GCA362008059SGCDc.257T>G (p.Leu86Ter)
c.254T>G (p.Leu85Ter)
c.*121T>G (n.*121T>G)
5g.156508666A=CA1593738841SGCDc.258A= (p.Leu86=)
c.255A= (p.Leu85=)
c.*122A= (n.*122A=)
5g.156508666A>CCA362008061SGCDc.258A>C (p.Leu86Phe)
c.255A>C (p.Leu85Phe)
c.*122A>C (n.*122A>C)
5g.156508666A>GCA3530542SGCDc.258A>G (p.Leu86=)
c.255A>G (p.Leu85=)
c.*122A>G (n.*122A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508666A>TCA362008060SGCDc.258A>T (p.Leu86Phe)
c.255A>T (p.Leu85Phe)
c.*122A>T (n.*122A>T)
5g.156508668_156508670dupCA2676178098SGCDc.260_262dup (p.Gln87_Pro88insGln)
c.257_259dup (p.Gln86_Pro87insGln)
c.*124_*126dup (n.*124_*126dup)
 gnomAD v4
5g.156508667C>ACA362008064SGCDc.259C>A (p.Gln87Lys)
c.256C>A (p.Gln86Lys)
c.*123C>A (n.*123C>A)
 gnomAD v4
5g.156508667C>GCA362008062SGCDc.259C>G (p.Gln87Glu)
c.256C>G (p.Gln86Glu)
c.*123C>G (n.*123C>G)
5g.156508667C>TCA362008063SGCDc.259C>T (p.Gln87Ter)
c.256C>T (p.Gln86Ter)
c.*123C>T (n.*123C>T)
 COSMIC COSMIC
5g.156508668A>CCA362008065SGCDc.260A>C (p.Gln87Pro)
c.257A>C (p.Gln86Pro)
c.*124A>C (n.*124A>C)
5g.156508668A>GCA362008066SGCDc.260A>G (p.Gln87Arg)
c.257A>G (p.Gln86Arg)
c.*124A>G (n.*124A>G)
5g.156508668A>TCA362008067SGCDc.260A>T (p.Gln87Leu)
c.257A>T (p.Gln86Leu)
c.*124A>T (n.*124A>T)
5g.156508669A=CA1593738842SGCDc.261A= (p.Gln87=)
c.258A= (p.Gln86=)
c.*125A= (n.*125A=)
5g.156508669A>CCA362008068SGCDc.261A>C (p.Gln87His)
c.258A>C (p.Gln86His)
c.*125A>C (n.*125A>C)
 dbSNP
5g.156508669A>GCA447387935SGCDc.261A>G (p.Gln87=)
c.258A>G (p.Gln86=)
c.*125A>G (n.*125A>G)
 gnomAD v4
5g.156508669A>TCA362008069SGCDc.261A>T (p.Gln87His)
c.258A>T (p.Gln86His)
c.*125A>T (n.*125A>T)
5g.156508670C>ACA362008070SGCDc.262C>A (p.Pro88Thr)
c.259C>A (p.Pro87Thr)
c.*126C>A (n.*126C>A)
 gnomAD v4
5g.156508670C=CA1593738843SGCDc.262C= (p.Pro88=)
c.259C= (p.Pro87=)
c.*126C= (n.*126C=)
5g.156508670C>GCA362008071SGCDc.262C>G (p.Pro88Ala)
c.259C>G (p.Pro87Ala)
c.*126C>G (n.*126C>G)
5g.156508670C>TCA362008072SGCDc.262C>T (p.Pro88Ser)
c.259C>T (p.Pro87Ser)
c.*126C>T (n.*126C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.156508671C>ACA362008075SGCDc.263C>A (p.Pro88His)
c.260C>A (p.Pro87His)
c.*127C>A (n.*127C>A)
5g.156508671C>GCA362008074SGCDc.263C>G (p.Pro88Arg)
c.260C>G (p.Pro87Arg)
c.*127C>G (n.*127C>G)
 gnomAD v4
5g.156508671C>TCA362008073SGCDc.263C>T (p.Pro88Leu)
c.260C>T (p.Pro87Leu)
c.*127C>T (n.*127C>T)
5g.156508675_156508676delCA2578464706SGCDc.267_268del (p.Tyr90ArgfsTer10)
c.264_265del (p.Tyr89ArgfsTer10)
c.*131_*132del (n.*131_*132del)
5g.156508672T>ACA3530543SGCDc.264T>A (p.Pro88=)
c.261T>A (p.Pro87=)
c.*128T>A (n.*128T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508672T>CCA447387936SGCDc.264T>C (p.Pro88=)
c.261T>C (p.Pro87=)
c.*128T>C (n.*128T>C)
5g.156508672T>GCA447387937SGCDc.264T>G (p.Pro88=)
c.261T>G (p.Pro87=)
c.*128T>G (n.*128T>G)
5g.156508672T=CA1593738844SGCDc.264T= (p.Pro88=)
c.261T= (p.Pro87=)
c.*128T= (n.*128T=)
5g.156508673C>ACA362008076SGCDc.265C>A (p.Leu89Ile)
c.262C>A (p.Leu88Ile)
c.*129C>A (n.*129C>A)
5g.156508673C=CA1593738845SGCDc.265C= (p.Leu89=)
c.262C= (p.Leu88=)
c.*129C= (n.*129C=)
5g.156508673C>GCA3530544SGCDc.265C>G (p.Leu89Val)
c.262C>G (p.Leu88Val)
c.*129C>G (n.*129C>G)
 ClinVar dbSNP ExAC gnomAD v2
5g.156508673C>TCA362008077SGCDc.265C>T (p.Leu89Phe)
c.262C>T (p.Leu88Phe)
c.*129C>T (n.*129C>T)
5g.156508674T>ACA362008078SGCDc.266T>A (p.Leu89His)
c.263T>A (p.Leu88His)
c.*130T>A (n.*130T>A)
5g.156508674T>CCA362008079SGCDc.266T>C (p.Leu89Pro)
c.263T>C (p.Leu88Pro)
c.*130T>C (n.*130T>C)
5g.156508674T>GCA362008080SGCDc.266T>G (p.Leu89Arg)
c.263T>G (p.Leu88Arg)
c.*130T>G (n.*130T>G)
5g.156508675C>ACA447387938SGCDc.267C>A (p.Leu89=)
c.264C>A (p.Leu88=)
c.*131C>A (n.*131C>A)
 gnomAD v4
5g.156508675C=CA1593738846SGCDc.267C= (p.Leu89=)
c.264C= (p.Leu88=)
c.*131C= (n.*131C=)
5g.156508675C>GCA447387939SGCDc.267C>G (p.Leu89=)
c.264C>G (p.Leu88=)
c.*131C>G (n.*131C>G)
 ClinVar
5g.156508675C>TCA130613350SGCDc.267C>T (p.Leu89=)
c.264C>T (p.Leu88=)
c.*131C>T (n.*131C>T)
 dbSNP
5g.156508676T>ACA237510SGCDc.268T>A (p.Tyr90Asn)
c.265T>A (p.Tyr89Asn)
c.*132T>A (n.*132T>A)
 ClinVar dbSNP
5g.156508676T>CCA362008081SGCDc.268T>C (p.Tyr90His)
c.265T>C (p.Tyr89His)
c.*132T>C (n.*132T>C)
5g.156508676T>GCA362008082SGCDc.268T>G (p.Tyr90Asp)
c.265T>G (p.Tyr89Asp)
c.*132T>G (n.*132T>G)
5g.156508676T=CA1593738847SGCDc.268T= (p.Tyr90=)
c.265T= (p.Tyr89=)
c.*132T= (n.*132T=)
5g.156508677A>CCA362008083SGCDc.269A>C (p.Tyr90Ser)
c.266A>C (p.Tyr89Ser)
c.*133A>C (n.*133A>C)
5g.156508677A>GCA362008085SGCDc.269A>G (p.Tyr90Cys)
c.266A>G (p.Tyr89Cys)
c.*133A>G (n.*133A>G)
5g.156508677A>TCA362008084SGCDc.269A>T (p.Tyr90Phe)
c.266A>T (p.Tyr89Phe)
c.*133A>T (n.*133A>T)
5g.156508677_156508680delinsACGCCA1593738848SGCDc.269_272delinsACGC (p.Tyr90=)
c.266_269delinsACGC (p.Tyr89=)
c.*133_*136delinsACGC (n.*133_*136delinsACGC)
5g.156508678C>ACA362008086SGCDc.270C>A (p.Tyr90Ter)
c.267C>A (p.Tyr89Ter)
c.*134C>A (n.*134C>A)
 dbSNP gnomAD v4
5g.156508678C=CA1593738849SGCDc.270C= (p.Tyr90=)
c.267C= (p.Tyr89=)
c.*134C= (n.*134C=)
5g.156508678C>GCA362008087SGCDc.270C>G (p.Tyr90Ter)
c.267C>G (p.Tyr89Ter)
c.*134C>G (n.*134C>G)
5g.156508678C>TCA3530546SGCDc.270C>T (p.Tyr90=)
c.267C>T (p.Tyr89=)
c.*134C>T (n.*134C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508679_156508681delCA3530545SGCDc.271_273del (p.Ala91del)
c.268_270del (p.Ala90del)
c.*135_*137del (n.*135_*137del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508679G>ACA130613351SGCDc.271G>A (p.Ala91Thr)
c.268G>A (p.Ala90Thr)
c.*135G>A (n.*135G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156508679G>CCA362008088SGCDc.271G>C (p.Ala91Pro)
c.268G>C (p.Ala90Pro)
c.*135G>C (n.*135G>C)
 gnomAD v4
5g.156508679G=CA1593738850SGCDc.271G= (p.Ala91=)
c.268G= (p.Ala90=)
c.*135G= (n.*135G=)
5g.156508679G>TCA362008089SGCDc.271G>T (p.Ala91Ser)
c.268G>T (p.Ala90Ser)
c.*135G>T (n.*135G>T)
5g.156508680C>ACA362008090SGCDc.272C>A (p.Ala91Asp)
c.269C>A (p.Ala90Asp)
c.*136C>A (n.*136C>A)
 dbSNP
5g.156508680C>GCA362008091SGCDc.272C>G (p.Ala91Gly)
c.269C>G (p.Ala90Gly)
c.*136C>G (n.*136C>G)
5g.156508680C>TCA362008092SGCDc.272C>T (p.Ala91Val)
c.269C>T (p.Ala90Val)
c.*136C>T (n.*136C>T)
5g.156508681C>ACA447387940SGCDc.273C>A (p.Ala91=)
c.270C>A (p.Ala90=)
c.*137C>A (n.*137C>A)
 gnomAD v4
5g.156508681C=CA1593738851SGCDc.273C= (p.Ala91=)
c.270C= (p.Ala90=)
c.*137C= (n.*137C=)
5g.156508681C>GCA447387941SGCDc.273C>G (p.Ala91=)
c.270C>G (p.Ala90=)
c.*137C>G (n.*137C>G)
5g.156508681C>TCA447387942SGCDc.273C>T (p.Ala91=)
c.270C>T (p.Ala90=)
c.*137C>T (n.*137C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.156508682A=CA1593738852SGCDc.274A= (p.Lys92=)
c.271A= (p.Lys91=)
c.*138A= (n.*138A=)
5g.156508682A>CCA362008093SGCDc.274A>C (p.Lys92Gln)
c.271A>C (p.Lys91Gln)
c.*138A>C (n.*138A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.156508682A>GCA362008095SGCDc.274A>G (p.Lys92Glu)
c.271A>G (p.Lys91Glu)
c.*138A>G (n.*138A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.156508682A>TCA362008094SGCDc.274A>T (p.Lys92Ter)
c.271A>T (p.Lys91Ter)
c.*138A>T (n.*138A>T)
5g.156508683A=CA1593738853SGCDc.275A= (p.Lys92=)
c.272A= (p.Lys91=)
c.*139A= (n.*139A=)
5g.156508683A>CCA362008096SGCDc.275A>C (p.Lys92Thr)
c.272A>C (p.Lys91Thr)
c.*139A>C (n.*139A>C)
 gnomAD v4
5g.156508683A>GCA362008097SGCDc.275A>G (p.Lys92Arg)
c.272A>G (p.Lys91Arg)
c.*139A>G (n.*139A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.156508683A>TCA362008098SGCDc.275A>T (p.Lys92Ile)
c.272A>T (p.Lys91Ile)
c.*139A>T (n.*139A>T)
 COSMIC COSMIC
5g.156508684_156508685insCAACA2769044678SGCDc.276_277insCAA (p.Lys92_Glu93insGln)
c.273_274insCAA (p.Lys91_Glu92insGln)
c.*140_*141insCAA (n.*140_*141insCAA)
5g.156508684A>CCA362008099SGCDc.276A>C (p.Lys92Asn)
c.273A>C (p.Lys91Asn)
c.*140A>C (n.*140A>C)
5g.156508684A>GCA447387943SGCDc.276A>G (p.Lys92=)
c.273A>G (p.Lys91=)
c.*140A>G (n.*140A>G)
5g.156508684A>TCA362008100SGCDc.276A>T (p.Lys92Asn)
c.273A>T (p.Lys91Asn)
c.*140A>T (n.*140A>T)
5g.156508685G>ACA362008101SGCDc.277G>A (p.Glu93Lys)
c.274G>A (p.Glu92Lys)
c.*141G>A (n.*141G>A)
5g.156508685G>CCA362008102SGCDc.277G>C (p.Glu93Gln)
c.274G>C (p.Glu92Gln)
c.*141G>C (n.*141G>C)
 gnomAD v4 COSMIC COSMIC
5g.156508685G>TCA362008103SGCDc.277G>T (p.Glu93Ter)
c.274G>T (p.Glu92Ter)
c.*141G>T (n.*141G>T)
5g.156508686A>CCA362008105SGCDc.278A>C (p.Glu93Ala)
c.275A>C (p.Glu92Ala)
c.*142A>C (n.*142A>C)
5g.156508686A>GCA362008106SGCDc.278A>G (p.Glu93Gly)
c.275A>G (p.Glu92Gly)
c.*142A>G (n.*142A>G)
5g.156508686A>TCA362008104SGCDc.278A>T (p.Glu93Val)
c.275A>T (p.Glu92Val)
c.*142A>T (n.*142A>T)
5g.156508687A>CCA362008107SGCDc.279A>C (p.Glu93Asp)
c.276A>C (p.Glu92Asp)
c.*143A>C (n.*143A>C)
5g.156508687A>GCA447387944SGCDc.279A>G (p.Glu93=)
c.276A>G (p.Glu92=)
c.*143A>G (n.*143A>G)
5g.156508687A>TCA362008108SGCDc.279A>T (p.Glu93Asp)
c.276A>T (p.Glu92Asp)
c.*143A>T (n.*143A>T)
5g.156508688A>CCA362008109SGCDc.280A>C (p.Ile94Leu)
c.277A>C (p.Ile93Leu)
c.*144A>C (n.*144A>C)
5g.156508688A>GCA362008111SGCDc.280A>G (p.Ile94Val)
c.277A>G (p.Ile93Val)
c.*144A>G (n.*144A>G)
5g.156508688A>TCA362008110SGCDc.280A>T (p.Ile94Phe)
c.277A>T (p.Ile93Phe)
c.*144A>T (n.*144A>T)
5g.156508689T>ACA362008112SGCDc.281T>A (p.Ile94Asn)
c.278T>A (p.Ile93Asn)
c.*145T>A (n.*145T>A)
5g.156508689T>CCA130613352SGCDc.281T>C (p.Ile94Thr)
c.278T>C (p.Ile93Thr)
c.*145T>C (n.*145T>C)
 dbSNP gnomAD v4
5g.156508689T>GCA362008113SGCDc.281T>G (p.Ile94Ser)
c.278T>G (p.Ile93Ser)
c.*145T>G (n.*145T>G)
5g.156508689T=CA1593738854SGCDc.281T= (p.Ile94=)
c.278T= (p.Ile93=)
c.*145T= (n.*145T=)
5g.156508690C>ACA447387945SGCDc.282C>A (p.Ile94=)
c.279C>A (p.Ile93=)
c.*146C>A (n.*146C>A)
 ClinVar gnomAD v4
5g.156508690C=CA1593738855SGCDc.282C= (p.Ile94=)
c.279C= (p.Ile93=)
c.*146C= (n.*146C=)
5g.156508690C>GCA362008114SGCDc.282C>G (p.Ile94Met)
c.279C>G (p.Ile93Met)
c.*146C>G (n.*146C>G)
5g.156508690C>TCA3530547SGCDc.282C>T (p.Ile94=)
c.279C>T (p.Ile93=)
c.*146C>T (n.*146C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508691delCA2676178099SGCDc.283del (p.Gln95SerfsTer18)
c.280del (p.Gln94SerfsTer18)
c.*147del (n.*147del)
 gnomAD v4
5g.156508691C>ACA362008115SGCDc.283C>A (p.Gln95Lys)
c.280C>A (p.Gln94Lys)
c.*147C>A (n.*147C>A)
5g.156508691C>GCA362008116SGCDc.283C>G (p.Gln95Glu)
c.280C>G (p.Gln94Glu)
c.*147C>G (n.*147C>G)
5g.156508691C>TCA362008117SGCDc.283C>T (p.Gln95Ter)
c.280C>T (p.Gln94Ter)
c.*147C>T (n.*147C>T)
5g.156508692A>CCA362008120SGCDc.284A>C (p.Gln95Pro)
c.281A>C (p.Gln94Pro)
c.*148A>C (n.*148A>C)
5g.156508692A>GCA362008119SGCDc.284A>G (p.Gln95Arg)
c.281A>G (p.Gln94Arg)
c.*148A>G (n.*148A>G)
5g.156508692A>TCA362008118SGCDc.284A>T (p.Gln95Leu)
c.281A>T (p.Gln94Leu)
c.*148A>T (n.*148A>T)
5g.156508693G>ACA447387946SGCDc.285G>A (p.Gln95=)
c.282G>A (p.Gln94=)
c.*149G>A (n.*149G>A)
 gnomAD v4
5g.156508693G>CCA362008121SGCDc.285G>C (p.Gln95His)
c.282G>C (p.Gln94His)
c.*149G>C (n.*149G>C)
 ClinVar dbSNP
5g.156508693G=CA1593738856SGCDc.285G= (p.Gln95=)
c.282G= (p.Gln94=)
c.*149G= (n.*149G=)
5g.156508693G>TCA362008122SGCDc.285G>T (p.Gln95His)
c.282G>T (p.Gln94His)
c.*149G>T (n.*149G>T)
 dbSNP gnomAD v2
5g.156508694T>ACA362008123SGCDc.286T>A (p.Ser96Thr)
c.283T>A (p.Ser95Thr)
c.*150T>A (n.*150T>A)
5g.156508694T>CCA362008124SGCDc.286T>C (p.Ser96Pro)
c.283T>C (p.Ser95Pro)
c.*150T>C (n.*150T>C)
 gnomAD v4
5g.156508694T>GCA362008125SGCDc.286T>G (p.Ser96Ala)
c.283T>G (p.Ser95Ala)
c.*150T>G (n.*150T>G)
 gnomAD v4
5g.156508695C>ACA362008126SGCDc.287C>A (p.Ser96Tyr)
c.284C>A (p.Ser95Tyr)
c.*151C>A (n.*151C>A)
 gnomAD v4
5g.156508695C>GCA362008127SGCDc.287C>G (p.Ser96Cys)
c.284C>G (p.Ser95Cys)
c.*151C>G (n.*151C>G)
5g.156508695C>TCA362008128SGCDc.287C>T (p.Ser96Phe)
c.284C>T (p.Ser95Phe)
c.*151C>T (n.*151C>T)
 gnomAD v4 COSMIC
5g.156508697delCA2676178100SGCDc.289del (p.Arg97AspfsTer16)
c.286del (p.Arg96AspfsTer16)
c.*153del (n.*153del)
 gnomAD v4
5g.156508696C>ACA3530548SGCDc.288C>A (p.Ser96=)
c.285C>A (p.Ser95=)
c.*152C>A (n.*152C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508696C=CA1593738857SGCDc.288C= (p.Ser96=)
c.285C= (p.Ser95=)
c.*152C= (n.*152C=)
5g.156508696C>GCA447387948SGCDc.288C>G (p.Ser96=)
c.285C>G (p.Ser95=)
c.*152C>G (n.*152C>G)
5g.156508696C>TCA447387947SGCDc.288C>T (p.Ser96=)
c.285C>T (p.Ser95=)
c.*152C>T (n.*152C>T)
 ClinVar dbSNP COSMIC
5g.156508697C>ACA447387949SGCDc.289C>A (p.Arg97=)
c.286C>A (p.Arg96=)
c.*153C>A (n.*153C>A)
 ClinVar gnomAD v4 COSMIC
5g.156508697C=CA1593738858SGCDc.289C= (p.Arg97=)
c.286C= (p.Arg96=)
c.*153C= (n.*153C=)
5g.156508697C>GCA362008129SGCDc.289C>G (p.Arg97Gly)
c.286C>G (p.Arg96Gly)
c.*153C>G (n.*153C>G)
5g.156508697C>TCA3530549SGCDc.289C>T (p.Arg97Ter)
c.286C>T (p.Arg96Ter)
c.*153C>T (n.*153C>T)
 ClinVar dbSNP ExAC gnomAD v4
5g.156508698G>ACA142625SGCDc.290G>A (p.Arg97Gln)
c.287G>A (p.Arg96Gln)
c.*154G>A (n.*154G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508698G>CCA362008130SGCDc.290G>C (p.Arg97Pro)
c.287G>C (p.Arg96Pro)
c.*154G>C (n.*154G>C)
 gnomAD v4
5g.156508698G=CA1593738859SGCDc.290G= (p.Arg97=)
c.287G= (p.Arg96=)
c.*154G= (n.*154G=)
5g.156508698G>TCA362008131SGCDc.290G>T (p.Arg97Leu)
c.287G>T (p.Arg96Leu)
c.*154G>T (n.*154G>T)
 gnomAD v4
5g.156508699delCA2676178101SGCDc.291del (p.Pro98GlnfsTer15)
c.288del (p.Pro97GlnfsTer15)
c.*155del (n.*155del)
 gnomAD v4
5g.156508699A=CA1593738860SGCDc.291A= (p.Arg97=)
c.288A= (p.Arg96=)
c.*155A= (n.*155A=)
5g.156508699A>CCA447387951SGCDc.291A>C (p.Arg97=)
c.288A>C (p.Arg96=)
c.*155A>C (n.*155A>C)
5g.156508699A>GCA447387952SGCDc.291A>G (p.Arg97=)
c.288A>G (p.Arg96=)
c.*155A>G (n.*155A>G)
 dbSNP gnomAD v4
5g.156508699A>TCA447387953SGCDc.291A>T (p.Arg97=)
c.288A>T (p.Arg96=)
c.*155A>T (n.*155A>T)
 gnomAD v4
5g.156508700C>ACA362008132SGCDc.292C>A (p.Pro98Thr)
c.289C>A (p.Pro97Thr)
c.*156C>A (n.*156C>A)
 dbSNP gnomAD v4
5g.156508700C=CA1593738861SGCDc.292C= (p.Pro98=)
c.289C= (p.Pro97=)
c.*156C= (n.*156C=)
5g.156508700C>GCA362008133SGCDc.292C>G (p.Pro98Ala)
c.289C>G (p.Pro97Ala)
c.*156C>G (n.*156C>G)
5g.156508700C>TCA362008134SGCDc.292C>T (p.Pro98Ser)
c.289C>T (p.Pro97Ser)
c.*156C>T (n.*156C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156508701delCA2676178102SGCDc.293del (p.Pro98GlnfsTer15)
c.290del (p.Pro97GlnfsTer15)
c.*157del (n.*157del)
 gnomAD v4
5g.156508701C>ACA362008135SGCDc.293C>A (p.Pro98Gln)
c.290C>A (p.Pro97Gln)
c.*157C>A (n.*157C>A)
 gnomAD v4
5g.156508701C>GCA362008136SGCDc.293C>G (p.Pro98Arg)
c.290C>G (p.Pro97Arg)
c.*157C>G (n.*157C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.156508701C>TCA362008137SGCDc.293C>T (p.Pro98Leu)
c.290C>T (p.Pro97Leu)
c.*157C>T (n.*157C>T)
5g.156508702A=CA1593738862SGCDc.294A= (p.Pro98=)
c.291A= (p.Pro97=)
c.*158A= (n.*158A=)
5g.156508702A>CCA447387957SGCDc.294A>C (p.Pro98=)
c.291A>C (p.Pro97=)
c.*158A>C (n.*158A>C)
5g.156508702A>GCA447387955SGCDc.294A>G (p.Pro98=)
c.291A>G (p.Pro97=)
c.*158A>G (n.*158A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.156508702A>TCA447387956SGCDc.294A>T (p.Pro98=)
c.291A>T (p.Pro97=)
c.*158A>T (n.*158A>T)
5g.156508703G>ACA346112SGCDc.294+1G>A (n.294+1G>A)
c.291+1G>A (n.291+1G>A)
c.*158+1G>A (n.*158+1G>A)
 ClinVar dbSNP gnomAD v4
5g.156508703G>CCA362008139SGCDc.294+1G>C (n.294+1G>C)
c.291+1G>C (n.291+1G>C)
c.*158+1G>C (n.*158+1G>C)
5g.156508703G=CA1593738863SGCDc.294+1G= (n.294+1G=)
c.291+1G= (n.291+1G=)
c.*158+1G= (n.*158+1G=)
5g.156508703G>TCA362008138SGCDc.294+1G>T (n.294+1G>T)
c.291+1G>T (n.291+1G>T)
c.*158+1G>T (n.*158+1G>T)
5g.156508704T>ACA362008140SGCDc.294+2T>A (n.294+2T>A)
c.291+2T>A (n.291+2T>A)
c.*158+2T>A (n.*158+2T>A)
 gnomAD v4
5g.156508704T>CCA362008141SGCDc.294+2T>C (n.294+2T>C)
c.291+2T>C (n.291+2T>C)
c.*158+2T>C (n.*158+2T>C)
 dbSNP gnomAD v4
5g.156508704T>GCA362008142SGCDc.294+2T>G (n.294+2T>G)
c.291+2T>G (n.291+2T>G)
c.*158+2T>G (n.*158+2T>G)
5g.156508704T=CA1593738864SGCDc.294+2T= (n.294+2T=)
c.291+2T= (n.291+2T=)
c.*158+2T= (n.*158+2T=)
5g.156508705A=CA1593738865SGCDc.294+3A= (n.294+3A=)
c.291+3A= (n.291+3A=)
c.*158+3A= (n.*158+3A=)
5g.156508705A>GCA130613353SGCDc.294+3A>G (n.294+3A>G)
c.291+3A>G (n.291+3A>G)
c.*158+3A>G (n.*158+3A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.156508706delCA2676178103SGCDc.294+4del (n.294+4del)
c.291+4del (n.291+4del)
c.*158+4del (n.*158+4del)
 gnomAD v4
5g.156508706A>GCA2676178104SGCDc.294+4A>G (n.294+4A>G)
c.291+4A>G (n.291+4A>G)
c.*158+4A>G (n.*158+4A>G)
 gnomAD v4
5g.156508707G>ACA2676178105SGCDc.294+5G>A (n.294+5G>A)
c.291+5G>A (n.291+5G>A)
c.*158+5G>A (n.*158+5G>A)
 gnomAD v4
5g.156508708_156508727delCA2578464707SGCDc.294+6_294+25del (n.294+6_294+25del)
c.291+6_291+25del (n.291+6_291+25del)
c.*158+6_*158+25del (n.*158+6_*158+25del)
 gnomAD v4
5g.156508708T>CCA2676178106SGCDc.294+6T>C (n.294+6T>C)
c.291+6T>C (n.291+6T>C)
c.*158+6T>C (n.*158+6T>C)
 gnomAD v4
5g.156508709T>CCA2676178107SGCDc.294+7T>C (n.294+7T>C)
c.291+7T>C (n.291+7T>C)
c.*158+7T>C (n.*158+7T>C)
 gnomAD v4
5g.156508710T>ACA2581515107SGCDc.294+8T>A (n.294+8T>A)
c.291+8T>A (n.291+8T>A)
c.*158+8T>A (n.*158+8T>A)
5g.156508710T>CCA142629SGCDc.294+8T>C (n.294+8T>C)
c.291+8T>C (n.291+8T>C)
c.*158+8T>C (n.*158+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508710T>GCA2581515106SGCDc.294+8T>G (n.294+8T>G)
c.291+8T>G (n.291+8T>G)
c.*158+8T>G (n.*158+8T>G)
5g.156508710T=CA1593738866SGCDc.294+8T= (n.294+8T=)
c.291+8T= (n.291+8T=)
c.*158+8T= (n.*158+8T=)
5g.156508711C>ACA2676178108SGCDc.294+9C>A (n.294+9C>A)
c.291+9C>A (n.291+9C>A)
c.*158+9C>A (n.*158+9C>A)
 gnomAD v4
5g.156508712T>ACA2676178109SGCDc.294+10T>A (n.294+10T>A)
c.291+10T>A (n.291+10T>A)
c.*158+10T>A (n.*158+10T>A)
 gnomAD v4
5g.156508712T>CCA2676178110SGCDc.294+10T>C (n.294+10T>C)
c.291+10T>C (n.291+10T>C)
c.*158+10T>C (n.*158+10T>C)
 gnomAD v4
5g.156508713G>ACA3530550SGCDc.294+11G>A (n.294+11G>A)
c.291+11G>A (n.291+11G>A)
c.*158+11G>A (n.*158+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508713G=CA1593738867SGCDc.294+11G= (n.294+11G=)
c.291+11G= (n.291+11G=)
c.*158+11G= (n.*158+11G=)
5g.156508714C>ACA2676178111SGCDc.294+12C>A (n.294+12C>A)
c.291+12C>A (n.291+12C>A)
c.*158+12C>A (n.*158+12C>A)
 gnomAD v4
5g.156508714C=CA1593738868SGCDc.294+12C= (n.294+12C=)
c.291+12C= (n.291+12C=)
c.*158+12C= (n.*158+12C=)
5g.156508714C>TCA130613354SGCDc.294+12C>T (n.294+12C>T)
c.291+12C>T (n.291+12C>T)
c.*158+12C>T (n.*158+12C>T)
 dbSNP gnomAD v4
5g.156508715T>CCA3530551SGCDc.294+13T>C (n.294+13T>C)
c.291+13T>C (n.291+13T>C)
c.*158+13T>C (n.*158+13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508715T=CA1593738869SGCDc.294+13T= (n.294+13T=)
c.291+13T= (n.291+13T=)
c.*158+13T= (n.*158+13T=)
5g.156508717A=CA1593738870SGCDc.294+15A= (n.294+15A=)
c.291+15A= (n.291+15A=)
c.*158+15A= (n.*158+15A=)
5g.156508717A>CCA3530552SGCDc.294+15A>C (n.294+15A>C)
c.291+15A>C (n.291+15A>C)
c.*158+15A>C (n.*158+15A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156508718G>ACA2676178112SGCDc.294+16G>A (n.294+16G>A)
c.291+16G>A (n.291+16G>A)
c.*158+16G>A (n.*158+16G>A)
 gnomAD v4
5g.156508718G>CCA3530553SGCDc.294+16G>C (n.294+16G>C)
c.291+16G>C (n.291+16G>C)
c.*158+16G>C (n.*158+16G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.156508718G=CA1593738871SGCDc.294+16G= (n.294+16G=)
c.291+16G= (n.291+16G=)
c.*158+16G= (n.*158+16G=)

Number of alleles fetched