Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111400987T>ACA2694473336DCXc.705+3A>T (n.705+3A>T)
c.948+3A>T (n.948+3A>T)
c.923+3A>T
n.945+3A>T
 gnomAD v4
Xg.111400987T>CCA2739004169DCXc.705+3A>G (n.705+3A>G)
c.948+3A>G (n.948+3A>G)
c.923+3A>G
n.945+3A>G
 dbSNP
Xg.111400988A>CCA414245788DCXc.705+2T>G (n.705+2T>G)
c.948+2T>G (n.948+2T>G)
c.923+2T>G
n.945+2T>G
Xg.111400988A>GCA414245789DCXc.705+2T>C (n.705+2T>C)
c.948+2T>C (n.948+2T>C)
c.923+2T>C
n.945+2T>C
Xg.111400988A>TCA414245787DCXc.705+2T>A (n.705+2T>A)
c.948+2T>A (n.948+2T>A)
c.923+2T>A
n.945+2T>A
Xg.111400988_111400989delinsACCA2451697191DCXc.705+1_705+2delinsGT (n.705+1_705+2delinsGT)
c.948+1_948+2delinsGT (n.948+1_948+2delinsGT)
c.923+1_923+2delinsGT
n.945+1_945+2delinsGT
Xg.111400989C>ACA414245792DCXc.705+1G>T (n.705+1G>T)
c.948+1G>T (n.948+1G>T)
c.923+1G>T
n.945+1G>T
Xg.111400989C>GCA414245790DCXc.705+1G>C (n.705+1G>C)
c.948+1G>C (n.948+1G>C)
c.923+1G>C
n.945+1G>C
Xg.111400989C>TCA414245791DCXc.705+1G>A (n.705+1G>A)
c.948+1G>A (n.948+1G>A)
c.923+1G>A
n.945+1G>A
 ClinVar dbSNP
Xg.111400990delCA645373313DCXc.705+1del
c.948+1del
c.923+1del
n.945+1del
 ClinVar dbSNP
Xg.111400990C>ACA414245793DCXc.705G>T (p.Gln235His)
c.948G>T (p.Gln316His)
c.923G>T
n.945G>T
Xg.111400990C>GCA414245794DCXc.705G>C (p.Gln235His)
c.948G>C (p.Gln316His)
c.923G>C
n.945G>C
Xg.111400990C>TCA518113915DCXc.705G>A (p.Gln235=)
c.948G>A (p.Gln316=)
c.923G>A
n.945G>A
Xg.111400991T>ACA414245795DCXc.704A>T (p.Gln235Leu)
c.947A>T (p.Gln316Leu)
c.922A>T
n.944A>T
Xg.111400991T>CCA414245796DCXc.704A>G (p.Gln235Arg)
c.947A>G (p.Gln316Arg)
c.922A>G
n.944A>G
Xg.111400991T>GCA414245797DCXc.704A>C (p.Gln235Pro)
c.947A>C (p.Gln316Pro)
c.922A>C
n.944A>C
Xg.111400992G>ACA414245798DCXc.703C>T (p.Gln235Ter)
c.946C>T (p.Gln316Ter)
c.921C>T
n.943C>T
 ClinVar
Xg.111400992G>CCA414245799DCXc.703C>G (p.Gln235Glu)
c.946C>G (p.Gln316Glu)
c.921C>G
n.943C>G
Xg.111400992G>TCA414245800DCXc.703C>A (p.Gln235Lys)
c.946C>A (p.Gln316Lys)
c.921C>A
n.943C>A
Xg.111400993_111401004delCA2822982894DCXc.692_703del (p.Leu231_Lys234del)
c.935_946del (p.Leu312_Lys315del)
c.910_921del
n.932_943del
Xg.111400993T>ACA414245801DCXc.702A>T (p.Lys234Asn)
c.945A>T (p.Lys315Asn)
c.920A>T
n.942A>T
Xg.111400993T>CCA518113916DCXc.702A>G (p.Lys234=)
c.945A>G (p.Lys315=)
c.920A>G
n.942A>G
Xg.111400993T>GCA414245802DCXc.702A>C (p.Lys234Asn)
c.945A>C (p.Lys315Asn)
c.920A>C
n.942A>C
Xg.111400994T>ACA414245805DCXc.701A>T (p.Lys234Ile)
c.944A>T (p.Lys315Ile)
c.919A>T
n.941A>T
Xg.111400994T>CCA414245803DCXc.701A>G (p.Lys234Arg)
c.944A>G (p.Lys315Arg)
c.919A>G
n.941A>G
Xg.111400994T>GCA414245804DCXc.701A>C (p.Lys234Thr)
c.944A>C (p.Lys315Thr)
c.919A>C
n.941A>C
Xg.111400995T>ACA414245806DCXc.700A>T (p.Lys234Ter)
c.943A>T (p.Lys315Ter)
c.918A>T
n.940A>T
Xg.111400995T>CCA414245807DCXc.700A>G (p.Lys234Glu)
c.943A>G (p.Lys315Glu)
c.918A>G
n.940A>G
Xg.111400995T>GCA414245808DCXc.700A>C (p.Lys234Gln)
c.943A>C (p.Lys315Gln)
c.918A>C
n.940A>C
Xg.111400995T=CA2451697192DCXc.700A= (p.Lys234=)
c.943A= (p.Lys315=)
c.918A=
n.940A=
Xg.111400996T>ACA518113917DCXc.699A>T (p.Gly233=)
c.942A>T (p.Gly314=)
c.917A>T
n.939A>T
Xg.111400996T>CCA518113919DCXc.699A>G (p.Gly233=)
c.942A>G (p.Gly314=)
c.917A>G
n.939A>G
Xg.111400996T>GCA518113918DCXc.699A>C (p.Gly233=)
c.942A>C (p.Gly314=)
c.917A>C
n.939A>C
Xg.111400996_111401010dupCA206209DCXc.685_699dup (p.Gly233_Lys234insTyrThrLeuAspGly)
c.928_942dup (p.Gly314_Lys315insTyrThrLeuAspGly)
c.903_917dup
n.925_939dup
 ClinVar dbSNP
Xg.111400997C>ACA414245809DCXc.698G>T (p.Gly233Val)
c.941G>T (p.Gly314Val)
c.916G>T
n.938G>T
Xg.111400997C>GCA414245810DCXc.698G>C (p.Gly233Ala)
c.941G>C (p.Gly314Ala)
c.916G>C
n.938G>C
Xg.111400997C>TCA414245811DCXc.698G>A (p.Gly233Glu)
c.941G>A (p.Gly314Glu)
c.916G>A
n.938G>A
Xg.111400998C>ACA414245812DCXc.697G>T (p.Gly233Ter)
c.940G>T (p.Gly314Ter)
c.915G>T
n.937G>T
Xg.111400998C>GCA414245813DCXc.697G>C (p.Gly233Arg)
c.940G>C (p.Gly314Arg)
c.915G>C
n.937G>C
Xg.111400998C>TCA414245814DCXc.697G>A (p.Gly233Arg)
c.940G>A (p.Gly314Arg)
c.915G>A
n.937G>A
Xg.111400999A=CA2451697193DCXc.696T= (p.Asp232=)
c.939T= (p.Asp313=)
c.914T=
n.936T=
Xg.111400999A>CCA414245815DCXc.696T>G (p.Asp232Glu)
c.939T>G (p.Asp313Glu)
c.914T>G
n.936T>G
Xg.111400999A>GCA518113920DCXc.696T>C (p.Asp232=)
c.939T>C (p.Asp313=)
c.914T>C
n.936T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.111400999A>TCA414245816DCXc.696T>A (p.Asp232Glu)
c.939T>A (p.Asp313Glu)
c.914T>A
n.936T>A
Xg.111401000T>ACA414245818DCXc.695A>T (p.Asp232Val)
c.938A>T (p.Asp313Val)
c.913A>T
n.935A>T
Xg.111401000T>CCA414245819DCXc.695A>G (p.Asp232Gly)
c.938A>G (p.Asp313Gly)
c.913A>G
n.935A>G
Xg.111401000T>GCA414245817DCXc.695A>C (p.Asp232Ala)
c.938A>C (p.Asp313Ala)
c.913A>C
n.935A>C
Xg.111401001C>ACA414245820DCXc.694G>T (p.Asp232Tyr)
c.937G>T (p.Asp313Tyr)
c.912G>T
n.934G>T
Xg.111401001C>GCA414245821DCXc.694G>C (p.Asp232His)
c.937G>C (p.Asp313His)
c.912G>C
n.934G>C
Xg.111401001C>TCA414245822DCXc.694G>A (p.Asp232Asn)
c.937G>A (p.Asp313Asn)
c.912G>A
n.934G>A
 dbSNP
Xg.111401002C>ACA518113921DCXc.693G>T (p.Leu231=)
c.936G>T (p.Leu312=)
c.911G>T
n.933G>T
Xg.111401002C>GCA518113922DCXc.693G>C (p.Leu231=)
c.936G>C (p.Leu312=)
c.911G>C
n.933G>C
Xg.111401002C>TCA518113923DCXc.693G>A (p.Leu231=)
c.936G>A (p.Leu312=)
c.911G>A
n.933G>A
Xg.111401002_111401004delinsCAGCA2451697194DCXc.691_693delinsCTG (p.Leu231=)
c.934_936delinsCTG (p.Leu312=)
c.909_911delinsCTG
n.931_933delinsCTG
Xg.111401003A>CCA414245823DCXc.692T>G (p.Leu231Arg)
c.935T>G (p.Leu312Arg)
c.910T>G
n.932T>G
 gnomAD v4
Xg.111401003A>GCA414245824DCXc.692T>C (p.Leu231Pro)
c.935T>C (p.Leu312Pro)
c.910T>C
n.932T>C
Xg.111401003A>TCA414245825DCXc.692T>A (p.Leu231Gln)
c.935T>A (p.Leu312Gln)
c.910T>A
n.932T>A
Xg.111401005_111401006delCA913191106DCXc.691_692del (p.Leu231GlyfsTer10)
c.934_935del (p.Leu312GlyfsTer10)
c.909_910del
n.931_932del
 ClinVar dbSNP
Xg.111401004G>ACA10493314DCXc.691C>T (p.Leu231=)
c.934C>T (p.Leu312=)
c.909C>T
n.931C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401004G>CCA414245826DCXc.691C>G (p.Leu231Val)
c.934C>G (p.Leu312Val)
c.909C>G
n.931C>G
Xg.111401004G=CA2451697195DCXc.691C= (p.Leu231=)
c.934C= (p.Leu312=)
c.909C=
n.931C=
Xg.111401004G>TCA414245827DCXc.691C>A (p.Leu231Met)
c.934C>A (p.Leu312Met)
c.909C>A
n.931C>A
Xg.111401005A>CCA518113924DCXc.690T>G (p.Thr230=)
c.933T>G (p.Thr311=)
c.908T>G
n.930T>G
Xg.111401005A>GCA518113925DCXc.690T>C (p.Thr230=)
c.933T>C (p.Thr311=)
c.908T>C
n.930T>C
Xg.111401005A>TCA518113926DCXc.690T>A (p.Thr230=)
c.933T>A (p.Thr311=)
c.908T>A
n.930T>A
Xg.111401006G>ACA414245828DCXc.689C>T (p.Thr230Ile)
c.932C>T (p.Thr311Ile)
c.907C>T
n.929C>T
Xg.111401006G>CCA414245829DCXc.689C>G (p.Thr230Ser)
c.932C>G (p.Thr311Ser)
c.907C>G
n.929C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111401006G=CA2451697196DCXc.689C= (p.Thr230=)
c.932C= (p.Thr311=)
c.907C=
n.929C=
Xg.111401006G>TCA414245830DCXc.689C>A (p.Thr230Asn)
c.932C>A (p.Thr311Asn)
c.907C>A
n.929C>A
Xg.111401007T>ACA414245831DCXc.688A>T (p.Thr230Ser)
c.931A>T (p.Thr311Ser)
c.906A>T
n.928A>T
Xg.111401007T>CCA414245832DCXc.688A>G (p.Thr230Ala)
c.931A>G (p.Thr311Ala)
c.906A>G
n.928A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111401007T>GCA172054DCXc.688A>C (p.Thr230Pro)
c.931A>C (p.Thr311Pro)
c.906A>C
n.928A>C
 ClinVar dbSNP
Xg.111401007T=CA2451697197DCXc.688A= (p.Thr230=)
c.931A= (p.Thr311=)
c.906A=
n.928A=
Xg.111401008G>ACA10493315DCXc.687C>T (p.Tyr229=)
c.930C>T (p.Tyr310=)
c.905C>T
n.927C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401008G>CCA414245834DCXc.687C>G (p.Tyr229Ter)
c.930C>G (p.Tyr310Ter)
c.905C>G
n.927C>G
Xg.111401008G=CA2451697198DCXc.687C= (p.Tyr229=)
c.930C= (p.Tyr310=)
c.905C=
n.927C=
Xg.111401008G>TCA414245833DCXc.687C>A (p.Tyr229Ter)
c.930C>A (p.Tyr310Ter)
c.905C>A
n.927C>A
Xg.111401009T>ACA414245835DCXc.686A>T (p.Tyr229Phe)
c.929A>T (p.Tyr310Phe)
c.904A>T
n.926A>T
Xg.111401009T>CCA414245836DCXc.686A>G (p.Tyr229Cys)
c.929A>G (p.Tyr310Cys)
c.904A>G
n.926A>G
Xg.111401009T>GCA414245837DCXc.686A>C (p.Tyr229Ser)
c.929A>C (p.Tyr310Ser)
c.904A>C
n.926A>C
Xg.111401009_111401011delinsTAGCA2451697199DCXc.684_686delinsCTA (p.Leu228=)
c.927_929delinsCTA (p.Leu309=)
c.902_904delinsCTA
n.924_926delinsCTA
Xg.111401010A>CCA414245838DCXc.685T>G (p.Tyr229Asp)
c.928T>G (p.Tyr310Asp)
c.903T>G
n.925T>G
Xg.111401010A>GCA414245839DCXc.685T>C (p.Tyr229His)
c.928T>C (p.Tyr310His)
c.903T>C
n.925T>C
Xg.111401010A>TCA414245840DCXc.685T>A (p.Tyr229Asn)
c.928T>A (p.Tyr310Asn)
c.903T>A
n.925T>A
Xg.111401012_111401013delCA645373314DCXc.684_685del (p.Tyr229HisfsTer12)
c.927_928del (p.Tyr310HisfsTer12)
c.902_903del
n.924_925del
 ClinVar dbSNP
Xg.111401011G>ACA518113927DCXc.684C>T (p.Leu228=)
c.927C>T (p.Leu309=)
c.902C>T
n.924C>T
Xg.111401011G>CCA518113929DCXc.684C>G (p.Leu228=)
c.927C>G (p.Leu309=)
c.902C>G
n.924C>G
Xg.111401011G>TCA518113928DCXc.684C>A (p.Leu228=)
c.927C>A (p.Leu309=)
c.902C>A
n.924C>A
Xg.111401012A=CA2451697200DCXc.683T= (p.Leu228=)
c.926T= (p.Leu309=)
c.901T=
n.923T=
Xg.111401012A>CCA414245841DCXc.683T>G (p.Leu228Arg)
c.926T>G (p.Leu309Arg)
c.901T>G
n.923T>G
Xg.111401012A>GCA172051DCXc.683T>C (p.Leu228Pro)
c.926T>C (p.Leu309Pro)
c.901T>C
n.923T>C
 ClinVar dbSNP
Xg.111401012A>TCA414245842DCXc.683T>A (p.Leu228His)
c.926T>A (p.Leu309His)
c.901T>A
n.923T>A
Xg.111401013G>ACA414245843DCXc.682C>T (p.Leu228Phe)
c.925C>T (p.Leu309Phe)
c.900C>T
n.922C>T
Xg.111401013G>CCA414245844DCXc.682C>G (p.Leu228Val)
c.925C>G (p.Leu309Val)
c.900C>G
n.922C>G
Xg.111401013G>TCA414245845DCXc.682C>A (p.Leu228Ile)
c.925C>A (p.Leu309Ile)
c.900C>A
n.922C>A
Xg.111401013_111401014delinsGTCA2451697201DCXc.681_682delinsAC (p.Lys227=)
c.924_925delinsAC (p.Lys308=)
c.899_900delinsAC
n.921_922delinsAC
Xg.111401014T>ACA414245846DCXc.681A>T (p.Lys227Asn)
c.924A>T (p.Lys308Asn)
c.899A>T
n.921A>T
Xg.111401014T>CCA518113930DCXc.681A>G (p.Lys227=)
c.924A>G (p.Lys308=)
c.899A>G
n.921A>G
 dbSNP
Xg.111401014T>GCA414245847DCXc.681A>C (p.Lys227Asn)
c.924A>C (p.Lys308Asn)
c.899A>C
n.921A>C
 gnomAD v4
Xg.111401014T=CA2451697202DCXc.681A= (p.Lys227=)
c.924A= (p.Lys308=)
c.899A=
n.921A=
Xg.111401019dupCA209792DCXc.681dup (p.Leu228ThrfsTer14)
c.924dup (p.Leu309ThrfsTer14)
c.899dup
n.921dup
 ClinVar dbSNP
Xg.111401019delCA172050DCXc.681del (p.Lys227AsnfsTer10)
c.924del (p.Lys308AsnfsTer10)
c.899del
n.921del
 ClinVar dbSNP COSMIC COSMIC
Xg.111401015T>ACA414245849DCXc.680A>T (p.Lys227Ile)
c.923A>T (p.Lys308Ile)
c.898A>T
n.920A>T
Xg.111401015T>CCA414245848DCXc.680A>G (p.Lys227Arg)
c.923A>G (p.Lys308Arg)
c.898A>G
n.920A>G
Xg.111401015T>GCA414245850DCXc.680A>C (p.Lys227Thr)
c.923A>C (p.Lys308Thr)
c.898A>C
n.920A>C
Xg.111401016T>ACA414245851DCXc.679A>T (p.Lys227Ter)
c.922A>T (p.Lys308Ter)
c.897A>T
n.919A>T
Xg.111401016T>CCA414245852DCXc.679A>G (p.Lys227Glu)
c.922A>G (p.Lys308Glu)
c.897A>G
n.919A>G
Xg.111401016T>GCA414245853DCXc.679A>C (p.Lys227Gln)
c.922A>C (p.Lys308Gln)
c.897A>C
n.919A>C
 COSMIC COSMIC
Xg.111401017T>ACA414245854DCXc.678A>T (p.Lys226Asn)
c.921A>T (p.Lys307Asn)
c.896A>T
n.918A>T
Xg.111401017T>CCA518113931DCXc.678A>G (p.Lys226=)
c.921A>G (p.Lys307=)
c.896A>G
n.918A>G
Xg.111401017T>GCA414245855DCXc.678A>C (p.Lys226Asn)
c.921A>C (p.Lys307Asn)
c.896A>C
n.918A>C
Xg.111401018T>ACA414245856DCXc.677A>T (p.Lys226Ile)
c.920A>T (p.Lys307Ile)
c.895A>T
n.917A>T
Xg.111401018T>CCA414245857DCXc.677A>G (p.Lys226Arg)
c.920A>G (p.Lys307Arg)
c.895A>G
n.917A>G
Xg.111401018T>GCA414245858DCXc.677A>C (p.Lys226Thr)
c.920A>C (p.Lys307Thr)
c.895A>C
n.917A>C
 ClinVar
Xg.111401019T>ACA414245859DCXc.676A>T (p.Lys226Ter)
c.919A>T (p.Lys307Ter)
c.894A>T
n.916A>T
Xg.111401019T>CCA414245860DCXc.676A>G (p.Lys226Glu)
c.919A>G (p.Lys307Glu)
c.894A>G
n.916A>G
Xg.111401019T>GCA414245861DCXc.676A>C (p.Lys226Gln)
c.919A>C (p.Lys307Gln)
c.894A>C
n.916A>C
Xg.111401020G>ACA518113932DCXc.675C>T (p.Val225=)
c.918C>T (p.Val306=)
c.893C>T
n.915C>T
Xg.111401020G>CCA10493316DCXc.675C>G (p.Val225=)
c.918C>G (p.Val306=)
c.893C>G
n.915C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401020G=CA2451697203DCXc.675C= (p.Val225=)
c.918C= (p.Val306=)
c.893C=
n.915C=
Xg.111401020G>TCA518113933DCXc.675C>A (p.Val225=)
c.918C>A (p.Val306=)
c.893C>A
n.915C>A
Xg.111401021A>CCA414245864DCXc.674T>G (p.Val225Gly)
c.917T>G (p.Val306Gly)
c.892T>G
n.914T>G
Xg.111401021A>GCA414245863DCXc.674T>C (p.Val225Ala)
c.917T>C (p.Val306Ala)
c.892T>C
n.914T>C
Xg.111401021A>TCA414245862DCXc.674T>A (p.Val225Asp)
c.917T>A (p.Val306Asp)
c.892T>A
n.914T>A
Xg.111401022C>ACA414245865DCXc.673G>T (p.Val225Phe)
c.916G>T (p.Val306Phe)
c.891G>T
n.913G>T
Xg.111401022C>GCA414245866DCXc.673G>C (p.Val225Leu)
c.916G>C (p.Val306Leu)
c.891G>C
n.913G>C
Xg.111401022C>TCA414245867DCXc.673G>A (p.Val225Ile)
c.916G>A (p.Val306Ile)
c.891G>A
n.913G>A
Xg.111401023A>CCA518113934DCXc.672T>G (p.Val224=)
c.915T>G (p.Val305=)
c.890T>G
n.912T>G
Xg.111401023A>GCA518113935DCXc.672T>C (p.Val224=)
c.915T>C (p.Val305=)
c.890T>C
n.912T>C
Xg.111401023A>TCA518113936DCXc.672T>A (p.Val224=)
c.915T>A (p.Val305=)
c.890T>A
n.912T>A
Xg.111401024A>CCA414245868DCXc.671T>G (p.Val224Gly)
c.914T>G (p.Val305Gly)
c.889T>G
n.911T>G
Xg.111401024A>GCA414245869DCXc.671T>C (p.Val224Ala)
c.914T>C (p.Val305Ala)
c.889T>C
n.911T>C
Xg.111401024A>TCA414245870DCXc.671T>A (p.Val224Asp)
c.914T>A (p.Val305Asp)
c.889T>A
n.911T>A
Xg.111401024_111401025delinsACCA2451697204DCXc.670_671delinsGT (p.Val224=)
c.913_914delinsGT (p.Val305=)
c.888_889delinsGT
n.910_911delinsGT
Xg.111401025C>ACA414245871DCXc.670G>T (p.Val224Phe)
c.913G>T (p.Val305Phe)
c.888G>T
n.910G>T
Xg.111401025C>GCA414245872DCXc.670G>C (p.Val224Leu)
c.913G>C (p.Val305Leu)
c.888G>C
n.910G>C
Xg.111401025C>TCA414245873DCXc.670G>A (p.Val224Ile)
c.913G>A (p.Val305Ile)
c.888G>A
n.910G>A
Xg.111401028delCA172049DCXc.670del (p.Val224LeufsTer13)
c.913del (p.Val305LeufsTer13)
c.888del
n.910del
 ClinVar dbSNP
Xg.111401026C>ACA518113937DCXc.669G>T (p.Gly223=)
c.912G>T (p.Gly304=)
c.887G>T
n.909G>T
 gnomAD v4
Xg.111401026C>GCA518113939DCXc.669G>C (p.Gly223=)
c.912G>C (p.Gly304=)
c.887G>C
n.909G>C
Xg.111401026C>TCA518113938DCXc.669G>A (p.Gly223=)
c.912G>A (p.Gly304=)
c.887G>A
n.909G>A
Xg.111401027C>ACA414245874DCXc.668G>T (p.Gly223Val)
c.911G>T (p.Gly304Val)
c.886G>T
n.908G>T
Xg.111401027C>GCA414245875DCXc.668G>C (p.Gly223Ala)
c.911G>C (p.Gly304Ala)
c.886G>C
n.908G>C
Xg.111401027C>TCA414245876DCXc.668G>A (p.Gly223Glu)
c.911G>A (p.Gly304Glu)
c.886G>A
n.908G>A
 COSMIC COSMIC
Xg.111401028C>ACA414245877DCXc.667G>T (p.Gly223Trp)
c.910G>T (p.Gly304Trp)
c.885G>T
n.907G>T
 COSMIC COSMIC
Xg.111401028C=CA2451697206DCXc.667G= (p.Gly223=)
c.910G= (p.Gly304=)
c.885G=
n.907G=
Xg.111401028C>GCA16621176DCXc.667G>C (p.Gly223Arg)
c.910G>C (p.Gly304Arg)
c.885G>C
n.907G>C
 ClinVar dbSNP
Xg.111401028C>TCA172046DCXc.667G>A (p.Gly223Arg)
c.910G>A (p.Gly304Arg)
c.885G>A
n.907G>A
 ClinVar dbSNP gnomAD v2
Xg.111401028_111401029delinsCGCA2451697205DCXc.666_667delinsCG (p.Thr222=)
c.909_910delinsCG (p.Thr303=)
c.884_885delinsCG
n.906_907delinsCG
Xg.111401029G>ACA10493317DCXc.666C>T (p.Thr222=)
c.909C>T (p.Thr303=)
c.884C>T
n.906C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401029G>CCA518113940DCXc.666C>G (p.Thr222=)
c.909C>G (p.Thr303=)
c.884C>G
n.906C>G
 gnomAD v4
Xg.111401029G=CA2451697207DCXc.666C= (p.Thr222=)
c.909C= (p.Thr303=)
c.884C=
n.906C=
Xg.111401029G>TCA518113941DCXc.666C>A (p.Thr222=)
c.909C>A (p.Thr303=)
c.884C>A
n.906C>A
Xg.111401030delCA172045DCXc.666del (p.Val224LeufsTer13)
c.909del (p.Val305LeufsTer13)
c.884del
n.906del
 ClinVar dbSNP
Xg.111401030G>ACA414245878DCXc.665C>T (p.Thr222Ile)
c.908C>T (p.Thr303Ile)
c.883C>T
n.905C>T
 ClinVar dbSNP
Xg.111401030G>CCA414245879DCXc.665C>G (p.Thr222Ser)
c.908C>G (p.Thr303Ser)
c.883C>G
n.905C>G
Xg.111401030G=CA2451697208DCXc.665C= (p.Thr222=)
c.908C= (p.Thr303=)
c.883C=
n.905C=
Xg.111401030G>TCA414245880DCXc.665C>A (p.Thr222Asn)
c.908C>A (p.Thr303Asn)
c.883C>A
n.905C>A
Xg.111401031T>ACA414245881DCXc.664A>T (p.Thr222Ser)
c.907A>T (p.Thr303Ser)
c.882A>T
n.904A>T
Xg.111401031T>CCA414245882DCXc.664A>G (p.Thr222Ala)
c.907A>G (p.Thr303Ala)
c.882A>G
n.904A>G
Xg.111401031T>GCA414245883DCXc.664A>C (p.Thr222Pro)
c.907A>C (p.Thr303Pro)
c.882A>C
n.904A>C
Xg.111401032C>ACA414245884DCXc.663G>T (p.Glu221Asp)
c.906G>T (p.Glu302Asp)
c.881G>T
n.903G>T
Xg.111401032C=CA2451697209DCXc.663G= (p.Glu221=)
c.906G= (p.Glu302=)
c.881G=
n.903G=
Xg.111401032C>GCA414245885DCXc.663G>C (p.Glu221Asp)
c.906G>C (p.Glu302Asp)
c.881G>C
n.903G>C
Xg.111401032C>TCA518113942DCXc.663G>A (p.Glu221=)
c.906G>A (p.Glu302=)
c.881G>A
n.903G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.111401033T>ACA414245886DCXc.662A>T (p.Glu221Val)
c.905A>T (p.Glu302Val)
c.880A>T
n.902A>T
Xg.111401033T>CCA414245887DCXc.662A>G (p.Glu221Gly)
c.905A>G (p.Glu302Gly)
c.880A>G
n.902A>G
Xg.111401033T>GCA414245888DCXc.662A>C (p.Glu221Ala)
c.905A>C (p.Glu302Ala)
c.880A>C
n.902A>C
Xg.111401034C>ACA414245889DCXc.661G>T (p.Glu221Ter)
c.904G>T (p.Glu302Ter)
c.879G>T
n.901G>T
Xg.111401034C>GCA414245891DCXc.661G>C (p.Glu221Gln)
c.904G>C (p.Glu302Gln)
c.879G>C
n.901G>C
 COSMIC COSMIC
Xg.111401034C>TCA414245890DCXc.661G>A (p.Glu221Lys)
c.904G>A (p.Glu302Lys)
c.879G>A
n.901G>A
 COSMIC COSMIC
Xg.111401035C>ACA518113943DCXc.660G>T (p.Leu220=)
c.903G>T (p.Leu301=)
c.878G>T
n.900G>T
Xg.111401035C>GCA518113944DCXc.660G>C (p.Leu220=)
c.903G>C (p.Leu301=)
c.878G>C
n.900G>C
 gnomAD v4
Xg.111401035C>TCA518113945DCXc.660G>A (p.Leu220=)
c.903G>A (p.Leu301=)
c.878G>A
n.900G>A
Xg.111401036A>CCA414245892DCXc.659T>G (p.Leu220Arg)
c.902T>G (p.Leu301Arg)
c.877T>G
n.899T>G
Xg.111401036A>GCA414245893DCXc.659T>C (p.Leu220Pro)
c.902T>C (p.Leu301Pro)
c.877T>C
n.899T>C
Xg.111401036A>TCA414245894DCXc.659T>A (p.Leu220Gln)
c.902T>A (p.Leu301Gln)
c.877T>A
n.899T>A
Xg.111401037G>ACA518113946DCXc.658C>T (p.Leu220=)
c.901C>T (p.Leu301=)
c.876C>T
n.898C>T
Xg.111401037G>CCA414245895DCXc.658C>G (p.Leu220Val)
c.901C>G (p.Leu301Val)
c.876C>G
n.898C>G
Xg.111401037G>TCA414245896DCXc.658C>A (p.Leu220Met)
c.901C>A (p.Leu301Met)
c.876C>A
n.898C>A
Xg.111401038T>ACA414245897DCXc.657A>T (p.Lys219Asn)
c.900A>T (p.Lys300Asn)
c.875A>T
n.897A>T
Xg.111401038T>CCA518113947DCXc.657A>G (p.Lys219=)
c.900A>G (p.Lys300=)
c.875A>G
n.897A>G
Xg.111401038T>GCA414245898DCXc.657A>C (p.Lys219Asn)
c.900A>C (p.Lys300Asn)
c.875A>C
n.897A>C
Xg.111401039T>ACA414245899DCXc.656A>T (p.Lys219Ile)
c.899A>T (p.Lys300Ile)
c.874A>T
n.896A>T
Xg.111401039T>CCA414245900DCXc.656A>G (p.Lys219Arg)
c.899A>G (p.Lys300Arg)
c.874A>G
n.896A>G
Xg.111401039T>GCA414245901DCXc.656A>C (p.Lys219Thr)
c.899A>C (p.Lys300Thr)
c.874A>C
n.896A>C
Xg.111401040T>ACA414245903DCXc.655A>T (p.Lys219Ter)
c.898A>T (p.Lys300Ter)
c.873A>T
n.895A>T
Xg.111401040T>CCA414245904DCXc.655A>G (p.Lys219Glu)
c.898A>G (p.Lys300Glu)
c.873A>G
n.895A>G
Xg.111401040T>GCA414245902DCXc.655A>C (p.Lys219Gln)
c.898A>C (p.Lys300Gln)
c.873A>C
n.895A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.111401040T=CA2451697210DCXc.655A= (p.Lys219=)
c.898A= (p.Lys300=)
c.873A=
n.895A=
Xg.111401041G>ACA518113949DCXc.654C>T (p.Ile218=)
c.897C>T (p.Ile299=)
c.872C>T
n.894C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401041G>CCA414245905DCXc.654C>G (p.Ile218Met)
c.897C>G (p.Ile299Met)
c.872C>G
n.894C>G
Xg.111401041G=CA2451697211DCXc.654C= (p.Ile218=)
c.897C= (p.Ile299=)
c.872C=
n.894C=
Xg.111401041G>TCA518113948DCXc.654C>A (p.Ile218=)
c.897C>A (p.Ile299=)
c.872C>A
n.894C>A
Xg.111401042A>CCA414245906DCXc.653T>G (p.Ile218Ser)
c.896T>G (p.Ile299Ser)
c.871T>G
n.893T>G
Xg.111401042A>GCA414245907DCXc.653T>C (p.Ile218Thr)
c.896T>C (p.Ile299Thr)
c.871T>C
n.893T>C
Xg.111401042A>TCA414245908DCXc.653T>A (p.Ile218Asn)
c.896T>A (p.Ile299Asn)
c.871T>A
n.893T>A
Xg.111401043T>ACA414245909DCXc.652A>T (p.Ile218Phe)
c.895A>T (p.Ile299Phe)
c.870A>T
n.892A>T
Xg.111401043T>CCA414245910DCXc.652A>G (p.Ile218Val)
c.895A>G (p.Ile299Val)
c.870A>G
n.892A>G
Xg.111401043T>GCA414245911DCXc.652A>C (p.Ile218Leu)
c.895A>C (p.Ile299Leu)
c.870A>C
n.892A>C
Xg.111401043_111401044delinsTGCA2451697212DCXc.651_652delinsCA (p.Ala217=)
c.894_895delinsCA (p.Ala298=)
c.869_870delinsCA
n.891_892delinsCA
Xg.111401044G>ACA518113950DCXc.651C>T (p.Ala217=)
c.894C>T (p.Ala298=)
c.869C>T
n.891C>T
Xg.111401044G>CCA518113951DCXc.651C>G (p.Ala217=)
c.894C>G (p.Ala298=)
c.869C>G
n.891C>G
Xg.111401044G>TCA518113952DCXc.651C>A (p.Ala217=)
c.894C>A (p.Ala298=)
c.869C>A
n.891C>A
Xg.111401045delCA172044DCXc.651del (p.Ile218SerfsTer19)
c.894del (p.Ile299SerfsTer19)
c.869del
n.891del
 ClinVar dbSNP
Xg.111401045G>ACA414245912DCXc.650C>T (p.Ala217Val)
c.893C>T (p.Ala298Val)
c.868C>T
n.890C>T
Xg.111401045G>CCA414245913DCXc.650C>G (p.Ala217Gly)
c.893C>G (p.Ala298Gly)
c.868C>G
n.890C>G
Xg.111401045G>TCA414245914DCXc.650C>A (p.Ala217Asp)
c.893C>A (p.Ala298Asp)
c.868C>A
n.890C>A
Xg.111401046C>ACA414245915DCXc.649G>T (p.Ala217Ser)
c.892G>T (p.Ala298Ser)
c.867G>T
n.889G>T
Xg.111401046C=CA2451697213DCXc.649G= (p.Ala217=)
c.892G= (p.Ala298=)
c.867G=
n.889G=
Xg.111401046C>GCA414245916DCXc.649G>C (p.Ala217Pro)
c.892G>C (p.Ala298Pro)
c.867G>C
n.889G>C
Xg.111401046C>TCA414245917DCXc.649G>A (p.Ala217Thr)
c.892G>A (p.Ala298Thr)
c.867G>A
n.889G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.111401047T>ACA414245919DCXc.648A>T (p.Glu216Asp)
c.891A>T (p.Glu297Asp)
c.866A>T
n.888A>T
Xg.111401047T>CCA518113953DCXc.648A>G (p.Glu216=)
c.891A>G (p.Glu297=)
c.866A>G
n.888A>G
Xg.111401047T>GCA414245918DCXc.648A>C (p.Glu216Asp)
c.891A>C (p.Glu297Asp)
c.866A>C
n.888A>C
Xg.111401048T>ACA414245920DCXc.647A>T (p.Glu216Val)
c.890A>T (p.Glu297Val)
c.865A>T
n.887A>T
Xg.111401048T>CCA414245921DCXc.647A>G (p.Glu216Gly)
c.890A>G (p.Glu297Gly)
c.865A>G
n.887A>G
Xg.111401048T>GCA414245922DCXc.647A>C (p.Glu216Ala)
c.890A>C (p.Glu297Ala)
c.865A>C
n.887A>C
Xg.111401049C>ACA414245923DCXc.646G>T (p.Glu216Ter)
c.889G>T (p.Glu297Ter)
c.864G>T
n.886G>T
Xg.111401049C>GCA414245924DCXc.646G>C (p.Glu216Gln)
c.889G>C (p.Glu297Gln)
c.864G>C
n.886G>C
Xg.111401049C>TCA414245925DCXc.646G>A (p.Glu216Lys)
c.889G>A (p.Glu297Lys)
c.864G>A
n.886G>A
Xg.111401050T>ACA518113954DCXc.645A>T (p.Thr215=)
c.888A>T (p.Thr296=)
c.863A>T
n.885A>T
Xg.111401050T>CCA518113955DCXc.645A>G (p.Thr215=)
c.888A>G (p.Thr296=)
c.863A>G
n.885A>G
Xg.111401050T>GCA518113956DCXc.645A>C (p.Thr215=)
c.888A>C (p.Thr296=)
c.863A>C
n.885A>C
Xg.111401051G>ACA414245926DCXc.644C>T (p.Thr215Ile)
c.887C>T (p.Thr296Ile)
c.862C>T
n.884C>T
Xg.111401051G>CCA414245927DCXc.644C>G (p.Thr215Arg)
c.887C>G (p.Thr296Arg)
c.862C>G
n.884C>G
Xg.111401051G>TCA414245928DCXc.644C>A (p.Thr215Lys)
c.887C>A (p.Thr296Lys)
c.862C>A
n.884C>A
Xg.111401052T>ACA414245929DCXc.643A>T (p.Thr215Ser)
c.886A>T (p.Thr296Ser)
c.861A>T
n.883A>T
Xg.111401052T>CCA414245930DCXc.643A>G (p.Thr215Ala)
c.886A>G (p.Thr296Ala)
c.861A>G
n.883A>G
 COSMIC COSMIC
Xg.111401052T>GCA414245931DCXc.643A>C (p.Thr215Pro)
c.886A>C (p.Thr296Pro)
c.861A>C
n.883A>C
Xg.111401053G>ACA518113957DCXc.642C>T (p.Ile214=)
c.885C>T (p.Ile295=)
c.860C>T
n.882C>T
Xg.111401053G>CCA414245932DCXc.642C>G (p.Ile214Met)
c.885C>G (p.Ile295Met)
c.860C>G
n.882C>G
Xg.111401053G>TCA518113958DCXc.642C>A (p.Ile214=)
c.885C>A (p.Ile295=)
c.860C>A
n.882C>A
Xg.111401054A=CA2451697214DCXc.641T= (p.Ile214=)
c.884T= (p.Ile295=)
c.859T=
n.881T=
Xg.111401054A>CCA414245934DCXc.641T>G (p.Ile214Ser)
c.884T>G (p.Ile295Ser)
c.859T>G
n.881T>G
Xg.111401054A>GCA172041DCXc.641T>C (p.Ile214Thr)
c.884T>C (p.Ile295Thr)
c.859T>C
n.881T>C
 ClinVar dbSNP
Xg.111401054A>TCA414245933DCXc.641T>A (p.Ile214Asn)
c.884T>A (p.Ile295Asn)
c.859T>A
n.881T>A
Xg.111401055T>ACA414245935DCXc.640A>T (p.Ile214Phe)
c.883A>T (p.Ile295Phe)
c.858A>T
n.880A>T
Xg.111401055T>CCA414245936DCXc.640A>G (p.Ile214Val)
c.883A>G (p.Ile295Val)
c.858A>G
n.880A>G
Xg.111401055T>GCA414245937DCXc.640A>C (p.Ile214Leu)
c.883A>C (p.Ile295Leu)
c.858A>C
n.880A>C
Xg.111401056A>CCA414245938DCXc.639T>G (p.Asp213Glu)
c.882T>G (p.Asp294Glu)
c.857T>G
n.879T>G
Xg.111401056A>GCA518113959DCXc.639T>C (p.Asp213=)
c.882T>C (p.Asp294=)
c.857T>C
n.879T>C
Xg.111401056A>TCA414245939DCXc.639T>A (p.Asp213Glu)
c.882T>A (p.Asp294Glu)
c.857T>A
n.879T>A
Xg.111401057T>ACA414245942DCXc.638A>T (p.Asp213Val)
c.881A>T (p.Asp294Val)
c.856A>T
n.878A>T
Xg.111401057T>CCA414245941DCXc.638A>G (p.Asp213Gly)
c.881A>G (p.Asp294Gly)
c.856A>G
n.878A>G
Xg.111401057T>GCA414245940DCXc.638A>C (p.Asp213Ala)
c.881A>C (p.Asp294Ala)
c.856A>C
n.878A>C
Xg.111401058C>ACA414245943DCXc.637G>T (p.Asp213Tyr)
c.880G>T (p.Asp294Tyr)
c.855G>T
n.877G>T
Xg.111401058C>GCA414245944DCXc.637G>C (p.Asp213His)
c.880G>C (p.Asp294His)
c.855G>C
n.877G>C
Xg.111401058C>TCA414245945DCXc.637G>A (p.Asp213Asn)
c.880G>A (p.Asp294Asn)
c.855G>A
n.877G>A
Xg.111401059A>CCA518113960DCXc.636T>G (p.Thr212=)
c.879T>G (p.Thr293=)
c.854T>G
n.876T>G
Xg.111401059A>GCA518113961DCXc.636T>C (p.Thr212=)
c.879T>C (p.Thr293=)
c.854T>C
n.876T>C
Xg.111401059A>TCA518113962DCXc.636T>A (p.Thr212=)
c.879T>A (p.Thr293=)
c.854T>A
n.876T>A
Xg.111401060G>ACA414245946DCXc.635C>T (p.Thr212Ile)
c.878C>T (p.Thr293Ile)
c.853C>T
n.875C>T
Xg.111401060G>CCA414245947DCXc.635C>G (p.Thr212Ser)
c.878C>G (p.Thr293Ser)
c.853C>G
n.875C>G
Xg.111401060G>TCA414245948DCXc.635C>A (p.Thr212Asn)
c.878C>A (p.Thr293Asn)
c.853C>A
n.875C>A
Xg.111401061T>ACA414245949DCXc.634A>T (p.Thr212Ser)
c.877A>T (p.Thr293Ser)
c.852A>T
n.874A>T
Xg.111401061T>CCA414245951DCXc.634A>G (p.Thr212Ala)
c.877A>G (p.Thr293Ala)
c.852A>G
n.874A>G
Xg.111401061T>GCA414245950DCXc.634A>C (p.Thr212Pro)
c.877A>C (p.Thr293Pro)
c.852A>C
n.874A>C
Xg.111401062G>ACA518113963DCXc.633C>T (p.Leu211=)
c.876C>T (p.Leu292=)
c.851C>T
n.873C>T
Xg.111401062G>CCA518113965DCXc.633C>G (p.Leu211=)
c.876C>G (p.Leu292=)
c.851C>G
n.873C>G
 COSMIC COSMIC
Xg.111401062G>TCA518113964DCXc.633C>A (p.Leu211=)
c.876C>A (p.Leu292=)
c.851C>A
n.873C>A
Xg.111401063A>CCA414245952DCXc.632T>G (p.Leu211Arg)
c.875T>G (p.Leu292Arg)
c.850T>G
n.872T>G
Xg.111401063A>GCA414245953DCXc.632T>C (p.Leu211Pro)
c.875T>C (p.Leu292Pro)
c.850T>C
n.872T>C
Xg.111401063A>TCA414245954DCXc.632T>A (p.Leu211His)
c.875T>A (p.Leu292His)
c.850T>A
n.872T>A
Xg.111401064G>ACA414245955DCXc.631C>T (p.Leu211Phe)
c.874C>T (p.Leu292Phe)
c.849C>T
n.871C>T
Xg.111401064G>CCA414245956DCXc.631C>G (p.Leu211Val)
c.874C>G (p.Leu292Val)
c.849C>G
n.871C>G
Xg.111401064G>TCA414245957DCXc.631C>A (p.Leu211Ile)
c.874C>A (p.Leu292Ile)
c.849C>A
n.871C>A
 COSMIC
Xg.111401065G>ACA518113966DCXc.630C>T (p.Val210=)
c.873C>T (p.Val291=)
c.848C>T
n.870C>T
Xg.111401065G>CCA518113967DCXc.630C>G (p.Val210=)
c.873C>G (p.Val291=)
c.848C>G
n.870C>G
Xg.111401065G>TCA518113968DCXc.630C>A (p.Val210=)
c.873C>A (p.Val291=)
c.848C>A
n.870C>A
Xg.111401066A=CA2451697215DCXc.629T= (p.Val210=)
c.872T= (p.Val291=)
c.847T=
n.869T=
Xg.111401066A>CCA414245958DCXc.629T>G (p.Val210Gly)
c.872T>G (p.Val291Gly)
c.847T>G
n.869T>G
Xg.111401066A>GCA10493318DCXc.629T>C (p.Val210Ala)
c.872T>C (p.Val291Ala)
c.847T>C
n.869T>C
 dbSNP ExAC
Xg.111401066A>TCA414245959DCXc.629T>A (p.Val210Asp)
c.872T>A (p.Val291Asp)
c.847T>A
n.869T>A
Xg.111401067delCA2573055069DCXc.628del (p.Val210SerfsTer27)
c.871del (p.Val291SerfsTer27)
c.846del
n.868del
 ClinVar dbSNP
Xg.111401067C>ACA172038DCXc.628G>T (p.Val210Phe)
c.871G>T (p.Val291Phe)
c.846G>T
n.868G>T
 ClinVar dbSNP
Xg.111401067C=CA2451697216DCXc.628G= (p.Val210=)
c.871G= (p.Val291=)
c.846G=
n.868G=
Xg.111401067C>GCA414245960DCXc.628G>C (p.Val210Leu)
c.871G>C (p.Val291Leu)
c.846G>C
n.868G>C
Xg.111401067C>TCA414245961DCXc.628G>A (p.Val210Ile)
c.871G>A (p.Val291Ile)
c.846G>A
n.868G>A
 dbSNP gnomAD v4
Xg.111401068T>ACA414245962DCXc.627A>T (p.Gln209His)
c.870A>T (p.Gln290His)
c.845A>T
n.867A>T
Xg.111401068T>CCA518113969DCXc.627A>G (p.Gln209=)
c.870A>G (p.Gln290=)
c.845A>G
n.867A>G
Xg.111401068T>GCA414245963DCXc.627A>C (p.Gln209His)
c.870A>C (p.Gln290His)
c.845A>C
n.867A>C
 ClinVar
Xg.111401069T>ACA414245964DCXc.626A>T (p.Gln209Leu)
c.869A>T (p.Gln290Leu)
c.844A>T
n.866A>T
Xg.111401069T>CCA414245966DCXc.626A>G (p.Gln209Arg)
c.869A>G (p.Gln290Arg)
c.844A>G
n.866A>G
Xg.111401069T>GCA414245965DCXc.626A>C (p.Gln209Pro)
c.869A>C (p.Gln290Pro)
c.844A>C
n.866A>C
Xg.111401070G>ACA414245967DCXc.625C>T (p.Gln209Ter)
c.868C>T (p.Gln290Ter)
c.843C>T
n.865C>T
Xg.111401070G>CCA414245969DCXc.625C>G (p.Gln209Glu)
c.868C>G (p.Gln290Glu)
c.843C>G
n.865C>G
Xg.111401070G>TCA414245968DCXc.625C>A (p.Gln209Lys)
c.868C>A (p.Gln290Lys)
c.843C>A
n.865C>A
Xg.111401071C>ACA414245970DCXc.624G>T (p.Glu208Asp)
c.867G>T (p.Glu289Asp)
c.842G>T
n.864G>T
Xg.111401071C>GCA414245971DCXc.624G>C (p.Glu208Asp)
c.867G>C (p.Glu289Asp)
c.842G>C
n.864G>C
Xg.111401071C>TCA518113970DCXc.624G>A (p.Glu208=)
c.867G>A (p.Glu289=)
c.842G>A
n.864G>A
Xg.111401072T>ACA414245972DCXc.623A>T (p.Glu208Val)
c.866A>T (p.Glu289Val)
c.841A>T
n.863A>T
Xg.111401072T>CCA414245973DCXc.623A>G (p.Glu208Gly)
c.866A>G (p.Glu289Gly)
c.841A>G
n.863A>G
Xg.111401072T>GCA414245974DCXc.623A>C (p.Glu208Ala)
c.866A>C (p.Glu289Ala)
c.841A>C
n.863A>C
Xg.111401073C>ACA414245975DCXc.622G>T (p.Glu208Ter)
c.865G>T (p.Glu289Ter)
c.840G>T
n.862G>T
Xg.111401073C>GCA414245976DCXc.622G>C (p.Glu208Gln)
c.865G>C (p.Glu289Gln)
c.840G>C
n.862G>C
 COSMIC COSMIC
Xg.111401073C>TCA414245977DCXc.622G>A (p.Glu208Lys)
c.865G>A (p.Glu289Lys)
c.840G>A
n.862G>A
Xg.111401074A>CCA414245978DCXc.621T>G (p.Phe207Leu)
c.864T>G (p.Phe288Leu)
c.839T>G
n.861T>G
Xg.111401074A>GCA518113971DCXc.621T>C (p.Phe207=)
c.864T>C (p.Phe288=)
c.839T>C
n.861T>C
Xg.111401074A>TCA414245979DCXc.621T>A (p.Phe207Leu)
c.864T>A (p.Phe288Leu)
c.839T>A
n.861T>A
Xg.111401075A>CCA414245982DCXc.620T>G (p.Phe207Cys)
c.863T>G (p.Phe288Cys)
c.838T>G
n.860T>G
Xg.111401075A>GCA414245981DCXc.620T>C (p.Phe207Ser)
c.863T>C (p.Phe288Ser)
c.838T>C
n.860T>C
Xg.111401075A>TCA414245980DCXc.620T>A (p.Phe207Tyr)
c.863T>A (p.Phe288Tyr)
c.838T>A
n.860T>A
Xg.111401076A>CCA414245983DCXc.619T>G (p.Phe207Val)
c.862T>G (p.Phe288Val)
c.837T>G
n.859T>G
Xg.111401076A>GCA414245984DCXc.619T>C (p.Phe207Leu)
c.862T>C (p.Phe288Leu)
c.837T>C
n.859T>C
Xg.111401076A>TCA414245985DCXc.619T>A (p.Phe207Ile)
c.862T>A (p.Phe288Ile)
c.837T>A
n.859T>A
Xg.111401077A>CCA518113972DCXc.618T>G (p.Ser206=)
c.861T>G (p.Ser287=)
c.836T>G
n.858T>G
Xg.111401077A>GCA518113973DCXc.618T>C (p.Ser206=)
c.861T>C (p.Ser287=)
c.836T>C
n.858T>C
Xg.111401077A>TCA518113974DCXc.618T>A (p.Ser206=)
c.861T>A (p.Ser287=)
c.836T>A
n.858T>A
Xg.111401078G>ACA414245986DCXc.617C>T (p.Ser206Phe)
c.860C>T (p.Ser287Phe)
c.835C>T
n.857C>T
Xg.111401078G>CCA414245987DCXc.617C>G (p.Ser206Cys)
c.860C>G (p.Ser287Cys)
c.835C>G
n.857C>G
Xg.111401078G>TCA414245988DCXc.617C>A (p.Ser206Tyr)
c.860C>A (p.Ser287Tyr)
c.835C>A
n.857C>A
Xg.111401079A>CCA414245989DCXc.616T>G (p.Ser206Ala)
c.859T>G (p.Ser287Ala)
c.834T>G
n.856T>G
Xg.111401079A>GCA414245990DCXc.616T>C (p.Ser206Pro)
c.859T>C (p.Ser287Pro)
c.834T>C
n.856T>C
Xg.111401079A>TCA414245991DCXc.616T>A (p.Ser206Thr)
c.859T>A (p.Ser287Thr)
c.834T>A
n.856T>A
Xg.111401080G>ACA518113975DCXc.615C>T (p.His205=)
c.858C>T (p.His286=)
c.833C>T
n.855C>T
Xg.111401080G>CCA414245992DCXc.615C>G (p.His205Gln)
c.858C>G (p.His286Gln)
c.833C>G
n.855C>G
Xg.111401080G>TCA414245993DCXc.615C>A (p.His205Gln)
c.858C>A (p.His286Gln)
c.833C>A
n.855C>A
Xg.111401081T>ACA172035DCXc.614A>T (p.His205Leu)
c.857A>T (p.His286Leu)
c.832A>T
n.854A>T
 ClinVar dbSNP
Xg.111401081T>CCA414245995DCXc.614A>G (p.His205Arg)
c.857A>G (p.His286Arg)
c.832A>G
n.854A>G
Xg.111401081T>GCA414245994DCXc.614A>C (p.His205Pro)
c.857A>C (p.His286Pro)
c.832A>C
n.854A>C
Xg.111401081T=CA2451697217DCXc.614A= (p.His205=)
c.857A= (p.His286=)
c.832A=
n.854A=
Xg.111401082G>ACA414245996DCXc.613C>T (p.His205Tyr)
c.856C>T (p.His286Tyr)
c.831C>T
n.853C>T
Xg.111401082G>CCA414245997DCXc.613C>G (p.His205Asp)
c.856C>G (p.His286Asp)
c.831C>G
n.853C>G
 ClinVar
Xg.111401082G>TCA414245998DCXc.613C>A (p.His205Asn)
c.856C>A (p.His286Asn)
c.831C>A
n.853C>A
 COSMIC
Xg.111401083G>ACA518113976DCXc.612C>T (p.Ala204=)
c.855C>T (p.Ala285=)
c.830C>T
n.852C>T
Xg.111401083G>CCA518113977DCXc.612C>G (p.Ala204=)
c.855C>G (p.Ala285=)
c.830C>G
n.852C>G
Xg.111401083G>TCA518113978DCXc.612C>A (p.Ala204=)
c.855C>A (p.Ala285=)
c.830C>A
n.852C>A
Xg.111401084G>ACA414245999DCXc.611C>T (p.Ala204Val)
c.854C>T (p.Ala285Val)
c.829C>T
n.851C>T
 gnomAD v4
Xg.111401084G>CCA414246000DCXc.611C>G (p.Ala204Gly)
c.854C>G (p.Ala285Gly)
c.829C>G
n.851C>G
Xg.111401084G=CA2451697218DCXc.611C= (p.Ala204=)
c.854C= (p.Ala285=)
c.829C=
n.851C=
Xg.111401084G>TCA172032DCXc.611C>A (p.Ala204Asp)
c.854C>A (p.Ala285Asp)
c.829C>A
n.851C>A
 ClinVar dbSNP
Xg.111401085C>ACA414246001DCXc.610G>T (p.Ala204Ser)
c.853G>T (p.Ala285Ser)
c.828G>T
n.850G>T
Xg.111401085C>GCA414246002DCXc.610G>C (p.Ala204Pro)
c.853G>C (p.Ala285Pro)
c.828G>C
n.850G>C
Xg.111401085C>TCA414246003DCXc.610G>A (p.Ala204Thr)
c.853G>A (p.Ala285Thr)
c.828G>A
n.850G>A
 gnomAD v4
Xg.111401086T>ACA518113979DCXc.609A>T (p.Thr203=)
c.852A>T (p.Thr284=)
c.827A>T
n.849A>T
Xg.111401086T>CCA518113980DCXc.609A>G (p.Thr203=)
c.852A>G (p.Thr284=)
c.827A>G
n.849A>G
Xg.111401086T>GCA518113981DCXc.609A>C (p.Thr203=)
c.852A>C (p.Thr284=)
c.827A>C
n.849A>C
Xg.111401087G>ACA414246004DCXc.608C>T (p.Thr203Ile)
c.851C>T (p.Thr284Ile)
c.826C>T
n.848C>T
Xg.111401087G>CCA121598DCXc.608C>G (p.Thr203Arg)
c.851C>G (p.Thr284Arg)
c.826C>G
n.848C>G
 ClinVar dbSNP
Xg.111401087G=CA2451697219DCXc.608C= (p.Thr203=)
c.851C= (p.Thr284=)
c.826C=
n.848C=
Xg.111401087G>TCA172029DCXc.608C>A (p.Thr203Lys)
c.851C>A (p.Thr284Lys)
c.826C>A
n.848C>A
 ClinVar dbSNP

Number of alleles fetched