Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68799222T>ACA381635177CPT1Ac.689A>T (p.Asn230Ile)
c.-56A>T (n.-56A>T)
c.785A>T (p.Asn262Ile)
11g.68799222T>CCA381635176CPT1Ac.689A>G (p.Asn230Ser)
c.-56A>G (n.-56A>G)
c.785A>G (p.Asn262Ser)
 COSMIC
11g.68799222T>GCA381635175CPT1Ac.689A>C (p.Asn230Thr)
c.-56A>C (n.-56A>C)
c.785A>C (p.Asn262Thr)
11g.68799223T>ACA381635178CPT1Ac.688A>T (p.Asn230Tyr)
c.-57A>T (n.-57A>T)
c.784A>T (p.Asn262Tyr)
11g.68799223T>CCA381635179CPT1Ac.688A>G (p.Asn230Asp)
c.-57A>G (n.-57A>G)
c.784A>G (p.Asn262Asp)
11g.68799223T>GCA381635180CPT1Ac.688A>C (p.Asn230His)
c.-57A>C (n.-57A>C)
c.784A>C (p.Asn262His)
11g.68799224T>ACA475204758CPT1Ac.687A>T (p.Thr229=)
c.-58A>T (n.-58A>T)
c.783A>T (p.Thr261=)
11g.68799224T>CCA475204759CPT1Ac.687A>G (p.Thr229=)
c.-58A>G (n.-58A>G)
c.783A>G (p.Thr261=)
 ClinVar
11g.68799224T>GCA475204760CPT1Ac.687A>C (p.Thr229=)
c.-58A>C (n.-58A>C)
c.783A>C (p.Thr261=)
11g.68799225G>ACA381635181CPT1Ac.686C>T (p.Thr229Ile)
c.-59C>T (n.-59C>T)
c.782C>T (p.Thr261Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68799225G>CCA381635182CPT1Ac.686C>G (p.Thr229Arg)
c.-59C>G (n.-59C>G)
c.782C>G (p.Thr261Arg)
11g.68799225G>TCA381635183CPT1Ac.686C>A (p.Thr229Lys)
c.-59C>A (n.-59C>A)
c.782C>A (p.Thr261Lys)
11g.68799226T>ACA381635184CPT1Ac.685A>T (p.Thr229Ser)
c.-60A>T (n.-60A>T)
c.781A>T (p.Thr261Ser)
11g.68799226T>CCA381635186CPT1Ac.685A>G (p.Thr229Ala)
c.-60A>G (n.-60A>G)
c.781A>G (p.Thr261Ala)
11g.68799226T>GCA381635185CPT1Ac.685A>C (p.Thr229Pro)
c.-60A>C (n.-60A>C)
c.781A>C (p.Thr261Pro)
 gnomAD v4
11g.68799227A>CCA475204763CPT1Ac.684T>G (p.Ala228=)
c.-61T>G (n.-61T>G)
c.780T>G (p.Ala260=)
11g.68799227A>GCA475204764CPT1Ac.684T>C (p.Ala228=)
c.-61T>C (n.-61T>C)
c.780T>C (p.Ala260=)
 gnomAD v4
11g.68799227A>TCA475204767CPT1Ac.684T>A (p.Ala228=)
c.-61T>A (n.-61T>A)
c.780T>A (p.Ala260=)
11g.68799228G>ACA381635187CPT1Ac.683C>T (p.Ala228Val)
c.-62C>T (n.-62C>T)
c.779C>T (p.Ala260Val)
11g.68799228G>CCA381635188CPT1Ac.683C>G (p.Ala228Gly)
c.-62C>G (n.-62C>G)
c.779C>G (p.Ala260Gly)
 ClinVar gnomAD v4
11g.68799228G>TCA381635189CPT1Ac.683C>A (p.Ala228Asp)
c.-62C>A (n.-62C>A)
c.779C>A (p.Ala260Asp)
11g.68799229C>ACA381635190CPT1Ac.682G>T (p.Ala228Ser)
c.-63G>T (n.-63G>T)
c.778G>T (p.Ala260Ser)
11g.68799229C>GCA381635191CPT1Ac.682G>C (p.Ala228Pro)
c.-63G>C (n.-63G>C)
c.778G>C (p.Ala260Pro)
11g.68799229C>TCA381635192CPT1Ac.682G>A (p.Ala228Thr)
c.-63G>A (n.-63G>A)
c.778G>A (p.Ala260Thr)
11g.68799230C>ACA381635193CPT1Ac.681G>T (p.Trp227Cys)
c.-64G>T (n.-64G>T)
c.777G>T (p.Trp259Cys)
11g.68799230C>GCA381635194CPT1Ac.681G>C (p.Trp227Cys)
c.-64G>C (n.-64G>C)
c.777G>C (p.Trp259Cys)
11g.68799230C>TCA381635195CPT1Ac.681G>A (p.Trp227Ter)
c.-64G>A (n.-64G>A)
c.777G>A (p.Trp259Ter)
11g.68799231C>ACA381635196CPT1Ac.680G>T (p.Trp227Leu)
c.-65G>T (n.-65G>T)
c.776G>T (p.Trp259Leu)
11g.68799231C>GCA381635197CPT1Ac.680G>C (p.Trp227Ser)
c.-65G>C (n.-65G>C)
c.776G>C (p.Trp259Ser)
11g.68799231C>TCA381635198CPT1Ac.680G>A (p.Trp227Ter)
c.-65G>A (n.-65G>A)
c.776G>A (p.Trp259Ter)
11g.68799232A>CCA381635199CPT1Ac.679T>G (p.Trp227Gly)
c.-66T>G (n.-66T>G)
c.775T>G (p.Trp259Gly)
11g.68799232A>GCA381635201CPT1Ac.679T>C (p.Trp227Arg)
c.-66T>C (n.-66T>C)
c.775T>C (p.Trp259Arg)
11g.68799232A>TCA381635200CPT1Ac.679T>A (p.Trp227Arg)
c.-66T>A (n.-66T>A)
c.775T>A (p.Trp259Arg)
11g.68799233C>ACA381635202CPT1Ac.678G>T (p.Trp226Cys)
c.-67G>T (n.-67G>T)
c.774G>T (p.Trp258Cys)
11g.68799233C>GCA6152598CPT1Ac.678G>C (p.Trp226Cys)
c.-67G>C (n.-67G>C)
c.774G>C (p.Trp258Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799233C>TCA381635203CPT1Ac.678G>A (p.Trp226Ter)
c.-67G>A (n.-67G>A)
c.774G>A (p.Trp258Ter)
11g.68799234C>ACA381635204CPT1Ac.677G>T (p.Trp226Leu)
c.-68G>T (n.-68G>T)
c.773G>T (p.Trp258Leu)
11g.68799234C>GCA381635205CPT1Ac.677G>C (p.Trp226Ser)
c.-68G>C (n.-68G>C)
c.773G>C (p.Trp258Ser)
11g.68799234C>TCA381635206CPT1Ac.677G>A (p.Trp226Ter)
c.-68G>A (n.-68G>A)
c.773G>A (p.Trp258Ter)
11g.68799235A>CCA381635207CPT1Ac.676T>G (p.Trp226Gly)
c.-69T>G (n.-69T>G)
c.772T>G (p.Trp258Gly)
11g.68799235A>GCA381635208CPT1Ac.676T>C (p.Trp226Arg)
c.-69T>C (n.-69T>C)
c.772T>C (p.Trp258Arg)
11g.68799235A>TCA381635209CPT1Ac.676T>A (p.Trp226Arg)
c.-69T>A (n.-69T>A)
c.772T>A (p.Trp258Arg)
11g.68799236G>ACA223389958CPT1Ac.675C>T (p.Ser225=)
c.-70C>T (n.-70C>T)
c.771C>T (p.Ser257=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68799236G>CCA475204784CPT1Ac.675C>G (p.Ser225=)
c.-70C>G (n.-70C>G)
c.771C>G (p.Ser257=)
11g.68799236G>TCA475204783CPT1Ac.675C>A (p.Ser225=)
c.-70C>A (n.-70C>A)
c.771C>A (p.Ser257=)
11g.68799237G>ACA223389966CPT1Ac.674C>T (p.Ser225Phe)
c.-71C>T (n.-71C>T)
c.770C>T (p.Ser257Phe)
 dbSNP COSMIC COSMIC
11g.68799237G>CCA381635210CPT1Ac.674C>G (p.Ser225Cys)
c.-71C>G (n.-71C>G)
c.770C>G (p.Ser257Cys)
11g.68799237G>TCA381635211CPT1Ac.674C>A (p.Ser225Tyr)
c.-71C>A (n.-71C>A)
c.770C>A (p.Ser257Tyr)
 gnomAD v4
11g.68799238A>CCA381635212CPT1Ac.673T>G (p.Ser225Ala)
c.-72T>G (n.-72T>G)
c.769T>G (p.Ser257Ala)
11g.68799238A>GCA381635213CPT1Ac.673T>C (p.Ser225Pro)
c.-72T>C (n.-72T>C)
c.769T>C (p.Ser257Pro)
11g.68799238A>TCA381635214CPT1Ac.673T>A (p.Ser225Thr)
c.-72T>A (n.-72T>A)
c.769T>A (p.Ser257Thr)
11g.68799239T>ACA381635215CPT1Ac.672A>T (p.Lys224Asn)
c.-73A>T (n.-73A>T)
c.768A>T (p.Lys256Asn)
11g.68799239T>CCA475204790CPT1Ac.672A>G (p.Lys224=)
c.-73A>G (n.-73A>G)
c.768A>G (p.Lys256=)
11g.68799239T>GCA381635216CPT1Ac.672A>C (p.Lys224Asn)
c.-73A>C (n.-73A>C)
c.768A>C (p.Lys256Asn)
11g.68799240T>ACA381635217CPT1Ac.671A>T (p.Lys224Ile)
c.-74A>T (n.-74A>T)
c.767A>T (p.Lys256Ile)
11g.68799240T>CCA381635218CPT1Ac.671A>G (p.Lys224Arg)
c.-74A>G (n.-74A>G)
c.767A>G (p.Lys256Arg)
11g.68799240T>GCA381635219CPT1Ac.671A>C (p.Lys224Thr)
c.-74A>C (n.-74A>C)
c.767A>C (p.Lys256Thr)
11g.68799241T>ACA381635220CPT1Ac.670A>T (p.Lys224Ter)
c.-75A>T (n.-75A>T)
c.766A>T (p.Lys256Ter)
11g.68799241T>CCA381635221CPT1Ac.670A>G (p.Lys224Glu)
c.-75A>G (n.-75A>G)
c.766A>G (p.Lys256Glu)
11g.68799241T>GCA381635222CPT1Ac.670A>C (p.Lys224Gln)
c.-75A>C (n.-75A>C)
c.766A>C (p.Lys256Gln)
11g.68799242T>ACA381635223CPT1Ac.669A>T (p.Leu223Phe)
c.-76A>T (n.-76A>T)
c.765A>T (p.Leu255Phe)
11g.68799242T>CCA6152599CPT1Ac.669A>G (p.Leu223=)
c.-76A>G (n.-76A>G)
c.765A>G (p.Leu255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799242T>GCA381635224CPT1Ac.669A>C (p.Leu223Phe)
c.-76A>C (n.-76A>C)
c.765A>C (p.Leu255Phe)
11g.68799243A>CCA381635225CPT1Ac.668T>G (p.Leu223Ter)
c.-77T>G (n.-77T>G)
c.764T>G (p.Leu255Ter)
 ClinVar dbSNP
11g.68799243A>GCA381635226CPT1Ac.668T>C (p.Leu223Ser)
c.-77T>C (n.-77T>C)
c.764T>C (p.Leu255Ser)
11g.68799243A>TCA381635227CPT1Ac.668T>A (p.Leu223Ter)
c.-77T>A (n.-77T>A)
c.764T>A (p.Leu255Ter)
11g.68799244A>CCA381635229CPT1Ac.667T>G (p.Leu223Val)
c.-78T>G (n.-78T>G)
c.763T>G (p.Leu255Val)
11g.68799244A>GCA475204802CPT1Ac.667T>C (p.Leu223=)
c.-78T>C (n.-78T>C)
c.763T>C (p.Leu255=)
11g.68799244A>TCA381635228CPT1Ac.667T>A (p.Leu223Ile)
c.-78T>A (n.-78T>A)
c.763T>A (p.Leu255Ile)
11g.68799245C>ACA381635230CPT1Ac.666G>T (p.Lys222Asn)
c.-79G>T (n.-79G>T)
c.762G>T (p.Lys254Asn)
11g.68799245C>GCA381635231CPT1Ac.666G>C (p.Lys222Asn)
c.-79G>C (n.-79G>C)
c.762G>C (p.Lys254Asn)
11g.68799245C>TCA475204806CPT1Ac.666G>A (p.Lys222=)
c.-79G>A (n.-79G>A)
c.762G>A (p.Lys254=)
11g.68799246T>ACA381635232CPT1Ac.665A>T (p.Lys222Met)
c.-80A>T (n.-80A>T)
c.761A>T (p.Lys254Met)
11g.68799246T>CCA381635233CPT1Ac.665A>G (p.Lys222Arg)
c.-80A>G (n.-80A>G)
c.761A>G (p.Lys254Arg)
11g.68799246T>GCA381635234CPT1Ac.665A>C (p.Lys222Thr)
c.-80A>C (n.-80A>C)
c.761A>C (p.Lys254Thr)
11g.68799247T>ACA6152600CPT1Ac.664A>T (p.Lys222Ter)
c.-81A>T (n.-81A>T)
c.760A>T (p.Lys254Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799247T>CCA381635235CPT1Ac.664A>G (p.Lys222Glu)
c.-81A>G (n.-81A>G)
c.760A>G (p.Lys254Glu)
11g.68799247T>GCA381635236CPT1Ac.664A>C (p.Lys222Gln)
c.-81A>C (n.-81A>C)
c.760A>C (p.Lys254Gln)
11g.68799248C>ACA381635237CPT1Ac.663G>T (p.Leu221Phe)
c.-82G>T (n.-82G>T)
c.759G>T (p.Leu253Phe)
11g.68799248C>GCA381635238CPT1Ac.663G>C (p.Leu221Phe)
c.-82G>C (n.-82G>C)
c.759G>C (p.Leu253Phe)
11g.68799248C>TCA475204810CPT1Ac.663G>A (p.Leu221=)
c.-82G>A (n.-82G>A)
c.759G>A (p.Leu253=)
 gnomAD v4
11g.68799249A>CCA381635239CPT1Ac.662T>G (p.Leu221Trp)
c.-83T>G (n.-83T>G)
c.758T>G (p.Leu253Trp)
 gnomAD v4
11g.68799249A>GCA381635240CPT1Ac.662T>C (p.Leu221Ser)
c.-83T>C (n.-83T>C)
c.758T>C (p.Leu253Ser)
11g.68799249A>TCA381635241CPT1Ac.662T>A (p.Leu221Ter)
c.-83T>A (n.-83T>A)
c.758T>A (p.Leu253Ter)
11g.68799250A>CCA381635242CPT1Ac.661T>G (p.Leu221Val)
c.-84T>G (n.-84T>G)
c.757T>G (p.Leu253Val)
11g.68799250A>GCA475204813CPT1Ac.661T>C (p.Leu221=)
c.-84T>C (n.-84T>C)
c.757T>C (p.Leu253=)
 ClinVar
11g.68799250A>TCA381635243CPT1Ac.661T>A (p.Leu221Met)
c.-84T>A (n.-84T>A)
c.757T>A (p.Leu253Met)
11g.68799251A>CCA381635244CPT1Ac.660T>G (p.Tyr220Ter)
c.-85T>G (n.-85T>G)
c.756T>G (p.Tyr252Ter)
11g.68799251A>GCA475204814CPT1Ac.660T>C (p.Tyr220=)
c.-85T>C (n.-85T>C)
c.756T>C (p.Tyr252=)
11g.68799251A>TCA381635245CPT1Ac.660T>A (p.Tyr220Ter)
c.-85T>A (n.-85T>A)
c.756T>A (p.Tyr252Ter)
11g.68799252T>ACA381635246CPT1Ac.659A>T (p.Tyr220Phe)
c.-86A>T (n.-86A>T)
c.755A>T (p.Tyr252Phe)
11g.68799252T>CCA381635247CPT1Ac.659A>G (p.Tyr220Cys)
c.-86A>G (n.-86A>G)
c.755A>G (p.Tyr252Cys)
11g.68799252T>GCA381635248CPT1Ac.659A>C (p.Tyr220Ser)
c.-86A>C (n.-86A>C)
c.755A>C (p.Tyr252Ser)
11g.68799253A>CCA381635249CPT1Ac.658T>G (p.Tyr220Asp)
c.-87T>G (n.-87T>G)
c.754T>G (p.Tyr252Asp)
11g.68799253A>GCA381635250CPT1Ac.658T>C (p.Tyr220His)
c.-87T>C (n.-87T>C)
c.754T>C (p.Tyr252His)
11g.68799253A>TCA381635251CPT1Ac.658T>A (p.Tyr220Asn)
c.-87T>A (n.-87T>A)
c.754T>A (p.Tyr252Asn)
11g.68799254C>ACA381635252CPT1Ac.657G>T (p.Trp219Cys)
c.-88G>T (n.-88G>T)
c.753G>T (p.Trp251Cys)
 gnomAD v4
11g.68799254C>GCA381635253CPT1Ac.657G>C (p.Trp219Cys)
c.-88G>C (n.-88G>C)
c.753G>C (p.Trp251Cys)
11g.68799254C>TCA381635254CPT1Ac.657G>A (p.Trp219Ter)
c.-88G>A (n.-88G>A)
c.753G>A (p.Trp251Ter)
 ClinVar dbSNP
11g.68799255C>ACA381635255CPT1Ac.656G>T (p.Trp219Leu)
c.-89G>T (n.-89G>T)
c.752G>T (p.Trp251Leu)
 gnomAD v4
11g.68799255C>GCA381635256CPT1Ac.656G>C (p.Trp219Ser)
c.-89G>C (n.-89G>C)
c.752G>C (p.Trp251Ser)
11g.68799255C>TCA381635257CPT1Ac.656G>A (p.Trp219Ter)
c.-89G>A (n.-89G>A)
c.752G>A (p.Trp251Ter)
11g.68799256A>CCA381635258CPT1Ac.655T>G (p.Trp219Gly)
c.-90T>G (n.-90T>G)
c.751T>G (p.Trp251Gly)
11g.68799256A>GCA381635260CPT1Ac.655T>C (p.Trp219Arg)
c.-90T>C (n.-90T>C)
c.751T>C (p.Trp251Arg)
 COSMIC COSMIC
11g.68799256A>TCA381635259CPT1Ac.655T>A (p.Trp219Arg)
c.-90T>A (n.-90T>A)
c.751T>A (p.Trp251Arg)
11g.68799257C>ACA381635261CPT1Ac.654G>T (p.Gln218His)
c.-91G>T (n.-91G>T)
c.750G>T (p.Gln250His)
11g.68799257C>GCA381635262CPT1Ac.654G>C (p.Gln218His)
c.-91G>C (n.-91G>C)
c.750G>C (p.Gln250His)
11g.68799257C>TCA475204825CPT1Ac.654G>A (p.Gln218=)
c.-91G>A (n.-91G>A)
c.750G>A (p.Gln250=)
11g.68799258T>ACA381635263CPT1Ac.653A>T (p.Gln218Leu)
c.-92A>T (n.-92A>T)
c.749A>T (p.Gln250Leu)
11g.68799258T>CCA381635264CPT1Ac.653A>G (p.Gln218Arg)
c.-92A>G (n.-92A>G)
c.749A>G (p.Gln250Arg)
11g.68799258T>GCA381635265CPT1Ac.653A>C (p.Gln218Pro)
c.-92A>C (n.-92A>C)
c.749A>C (p.Gln250Pro)
 gnomAD v4
11g.68799259G>ACA223389993CPT1Ac.652C>T (p.Gln218Ter)
c.-93C>T (n.-93C>T)
c.748C>T (p.Gln250Ter)
 dbSNP
11g.68799259G>CCA381635266CPT1Ac.652C>G (p.Gln218Glu)
c.-93C>G (n.-93C>G)
c.748C>G (p.Gln250Glu)
11g.68799259G>TCA381635267CPT1Ac.652C>A (p.Gln218Lys)
c.-93C>A (n.-93C>A)
c.748C>A (p.Gln250Lys)
11g.68799260T>ACA6152601CPT1Ac.651A>T (p.Leu217Phe)
c.-94A>T (n.-94A>T)
c.747A>T (p.Leu249Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799260T>CCA475204832CPT1Ac.651A>G (p.Leu217=)
c.-94A>G (n.-94A>G)
c.747A>G (p.Leu249=)
11g.68799260T>GCA381635268CPT1Ac.651A>C (p.Leu217Phe)
c.-94A>C (n.-94A>C)
c.747A>C (p.Leu249Phe)
11g.68799261A>CCA381635269CPT1Ac.650T>G (p.Leu217Ter)
c.-95T>G (n.-95T>G)
c.746T>G (p.Leu249Ter)
11g.68799261A>GCA381635270CPT1Ac.650T>C (p.Leu217Ser)
c.-95T>C (n.-95T>C)
c.746T>C (p.Leu249Ser)
11g.68799261A>TCA381635271CPT1Ac.650T>A (p.Leu217Ter)
c.-95T>A (n.-95T>A)
c.746T>A (p.Leu249Ter)
11g.68799262A>CCA381635272CPT1Ac.649T>G (p.Leu217Val)
c.-96T>G (n.-96T>G)
c.745T>G (p.Leu249Val)
11g.68799262A>GCA223389994CPT1Ac.649T>C (p.Leu217=)
c.-96T>C (n.-96T>C)
c.745T>C (p.Leu249=)
 dbSNP
11g.68799262A>TCA381635273CPT1Ac.649T>A (p.Leu217Ile)
c.-96T>A (n.-96T>A)
c.745T>A (p.Leu249Ile)
11g.68799263T>ACA381635274CPT1Ac.648A>T (p.Arg216Ser)
c.-97A>T (n.-97A>T)
c.744A>T (p.Arg248Ser)
11g.68799263T>CCA475204836CPT1Ac.648A>G (p.Arg216=)
c.-97A>G (n.-97A>G)
c.744A>G (p.Arg248=)
11g.68799263T>GCA381635275CPT1Ac.648A>C (p.Arg216Ser)
c.-97A>C (n.-97A>C)
c.744A>C (p.Arg248Ser)
11g.68799264C>ACA381635276CPT1Ac.647G>T (p.Arg216Ile)
c.-98G>T (n.-98G>T)
c.743G>T (p.Arg248Ile)
11g.68799264C>GCA381635277CPT1Ac.647G>C (p.Arg216Thr)
c.-98G>C (n.-98G>C)
c.743G>C (p.Arg248Thr)
11g.68799264C>TCA223389996CPT1Ac.647G>A (p.Arg216Lys)
c.-98G>A (n.-98G>A)
c.743G>A (p.Arg248Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68799265T>ACA381635278CPT1Ac.646A>T (p.Arg216Ter)
c.-99A>T (n.-99A>T)
c.742A>T (p.Arg248Ter)
11g.68799265T>CCA381635279CPT1Ac.646A>G (p.Arg216Gly)
c.-99A>G (n.-99A>G)
c.742A>G (p.Arg248Gly)
11g.68799265T>GCA475204839CPT1Ac.646A>C (p.Arg216=)
c.-99A>C (n.-99A>C)
c.742A>C (p.Arg248=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68799266T>ACA475204842CPT1Ac.645A>T (p.Pro215=)
c.-100A>T (n.-100A>T)
c.741A>T (p.Pro247=)
11g.68799266T>CCA475204844CPT1Ac.645A>G (p.Pro215=)
c.-100A>G (n.-100A>G)
c.741A>G (p.Pro247=)
 gnomAD v4
11g.68799266T>GCA475204845CPT1Ac.645A>C (p.Pro215=)
c.-100A>C (n.-100A>C)
c.741A>C (p.Pro247=)
11g.68799267G>ACA381635280CPT1Ac.644C>T (p.Pro215Leu)
c.-101C>T (n.-101C>T)
c.740C>T (p.Pro247Leu)
11g.68799267G>CCA381635281CPT1Ac.644C>G (p.Pro215Arg)
c.-101C>G (n.-101C>G)
c.740C>G (p.Pro247Arg)
11g.68799267G>TCA381635282CPT1Ac.644C>A (p.Pro215Gln)
c.-101C>A (n.-101C>A)
c.740C>A (p.Pro247Gln)
11g.68799268G>ACA381635283CPT1Ac.643C>T (p.Pro215Ser)
c.-102C>T (n.-102C>T)
c.739C>T (p.Pro247Ser)
11g.68799268G>CCA381635284CPT1Ac.643C>G (p.Pro215Ala)
c.-102C>G (n.-102C>G)
c.739C>G (p.Pro247Ala)
11g.68799268G>TCA381635285CPT1Ac.643C>A (p.Pro215Thr)
c.-102C>A (n.-102C>A)
c.739C>A (p.Pro247Thr)
11g.68799269T>ACA475204853CPT1Ac.642A>T (p.Gly214=)
c.738A>T (p.Gly246=)
11g.68799269T>CCA6152602CPT1Ac.642A>G (p.Gly214=)
c.738A>G (p.Gly246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799269T>GCA475204855CPT1Ac.642A>C (p.Gly214=)
c.738A>C (p.Gly246=)
11g.68799270C>ACA381635286CPT1Ac.641G>T (p.Gly214Val)
c.737G>T (p.Gly246Val)
11g.68799270C>GCA381635288CPT1Ac.641G>C (p.Gly214Ala)
c.737G>C (p.Gly246Ala)
11g.68799270C>TCA381635287CPT1Ac.641G>A (p.Gly214Glu)
c.737G>A (p.Gly246Glu)
11g.68799271C>ACA381635289CPT1Ac.640G>T (p.Gly214Ter)
c.736G>T (p.Gly246Ter)
11g.68799271C>GCA381635290CPT1Ac.640G>C (p.Gly214Arg)
c.736G>C (p.Gly246Arg)
11g.68799271C>TCA381635291CPT1Ac.640G>A (p.Gly214Arg)
c.736G>A (p.Gly246Arg)
11g.68799272A>CCA6152603CPT1Ac.639T>G (p.Leu213=)
c.735T>G (p.Leu245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799272A>GCA475204861CPT1Ac.639T>C (p.Leu213=)
c.735T>C (p.Leu245=)
11g.68799272A>TCA475204862CPT1Ac.639T>A (p.Leu213=)
c.735T>A (p.Leu245=)
11g.68799273A>CCA381635292CPT1Ac.638T>G (p.Leu213Arg)
c.734T>G (p.Leu245Arg)
11g.68799273A>GCA381635293CPT1Ac.638T>C (p.Leu213Pro)
c.734T>C (p.Leu245Pro)
11g.68799273A>TCA381635294CPT1Ac.638T>A (p.Leu213His)
c.734T>A (p.Leu245His)
11g.68799274G>ACA381635295CPT1Ac.637C>T (p.Leu213Phe)
c.733C>T (p.Leu245Phe)
 COSMIC COSMIC
11g.68799274G>CCA381635296CPT1Ac.637C>G (p.Leu213Val)
c.733C>G (p.Leu245Val)
11g.68799274G>TCA381635297CPT1Ac.637C>A (p.Leu213Ile)
c.733C>A (p.Leu245Ile)
11g.68799274dupCA2842754979CPT1Ac.637dup (p.Leu213ProfsTer?)
c.733dup (p.Leu245ProfsTer?)
11g.68799275A>CCA475204867CPT1Ac.636T>G (p.Gly212=)
c.732T>G (p.Gly244=)
11g.68799275A>GCA475204868CPT1Ac.636T>C (p.Gly212=)
c.732T>C (p.Gly244=)
11g.68799275A>TCA475204869CPT1Ac.636T>A (p.Gly212=)
c.732T>A (p.Gly244=)
11g.68799276C>ACA6152604CPT1Ac.635G>T (p.Gly212Val)
c.731G>T (p.Gly244Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799276C>GCA381635298CPT1Ac.635G>C (p.Gly212Ala)
c.731G>C (p.Gly244Ala)
11g.68799276C>TCA381635299CPT1Ac.635G>A (p.Gly212Asp)
c.731G>A (p.Gly244Asp)
 gnomAD v4
11g.68799277C>ACA381635300CPT1Ac.634G>T (p.Gly212Cys)
c.730G>T (p.Gly244Cys)
11g.68799277C>GCA381635301CPT1Ac.634G>C (p.Gly212Arg)
c.730G>C (p.Gly244Arg)
11g.68799277C>TCA6152605CPT1Ac.634G>A (p.Gly212Ser)
c.730G>A (p.Gly244Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799278G>ACA6152606CPT1Ac.633C>T (p.Val211=)
c.729C>T (p.Val243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799278G>CCA475204880CPT1Ac.633C>G (p.Val211=)
c.729C>G (p.Val243=)
 gnomAD v4
11g.68799278G>TCA475204877CPT1Ac.633C>A (p.Val211=)
c.729C>A (p.Val243=)
11g.68799279A>CCA381635302CPT1Ac.632T>G (p.Val211Gly)
c.728T>G (p.Val243Gly)
 COSMIC COSMIC
11g.68799279A>GCA381635303CPT1Ac.632T>C (p.Val211Ala)
c.728T>C (p.Val243Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.68799279A>TCA381635304CPT1Ac.632T>A (p.Val211Asp)
c.728T>A (p.Val243Asp)
11g.68799280C>ACA381635305CPT1Ac.631G>T (p.Val211Phe)
c.727G>T (p.Val243Phe)
 gnomAD v4
11g.68799280C>GCA381635306CPT1Ac.631G>C (p.Val211Leu)
c.727G>C (p.Val243Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68799280C>TCA381635307CPT1Ac.631G>A (p.Val211Ile)
c.727G>A (p.Val243Ile)
 dbSNP gnomAD v4
11g.68799281A>CCA475204887CPT1Ac.630T>G (p.Ala210=)
c.726T>G (p.Ala242=)
11g.68799281A>GCA475204888CPT1Ac.630T>C (p.Ala210=)
c.726T>C (p.Ala242=)
11g.68799281A>TCA475204889CPT1Ac.630T>A (p.Ala210=)
c.726T>A (p.Ala242=)
11g.68799282G>ACA381635308CPT1Ac.629C>T (p.Ala210Val)
c.725C>T (p.Ala242Val)
 gnomAD v4
11g.68799282G>CCA381635309CPT1Ac.629C>G (p.Ala210Gly)
c.725C>G (p.Ala242Gly)
11g.68799282G>TCA381635310CPT1Ac.629C>A (p.Ala210Asp)
c.725C>A (p.Ala242Asp)
11g.68799283C>ACA381635313CPT1Ac.628G>T (p.Ala210Ser)
c.724G>T (p.Ala242Ser)
11g.68799283C>GCA381635312CPT1Ac.628G>C (p.Ala210Pro)
c.724G>C (p.Ala242Pro)
11g.68799283C>TCA381635311CPT1Ac.628G>A (p.Ala210Thr)
c.724G>A (p.Ala242Thr)
11g.68799284A>CCA381635314CPT1Ac.627T>G (p.Phe209Leu)
c.723T>G (p.Phe241Leu)
11g.68799284A>GCA475204892CPT1Ac.627T>C (p.Phe209=)
c.723T>C (p.Phe241=)
11g.68799284A>TCA381635315CPT1Ac.627T>A (p.Phe209Leu)
c.723T>A (p.Phe241Leu)
11g.68799287delCA2695214979CPT1Ac.627del (p.Phe209LeufsTer13)
c.723del (p.Phe241LeufsTer13)
11g.68799285A>CCA381635316CPT1Ac.626T>G (p.Phe209Cys)
c.722T>G (p.Phe241Cys)
11g.68799285A>GCA381635318CPT1Ac.626T>C (p.Phe209Ser)
c.722T>C (p.Phe241Ser)
11g.68799285A>TCA381635317CPT1Ac.626T>A (p.Phe209Tyr)
c.722T>A (p.Phe241Tyr)
11g.68799286A>CCA381635319CPT1Ac.625T>G (p.Phe209Val)
c.721T>G (p.Phe241Val)
11g.68799286A>GCA381635321CPT1Ac.625T>C (p.Phe209Leu)
c.721T>C (p.Phe241Leu)
11g.68799286A>TCA381635320CPT1Ac.625T>A (p.Phe209Ile)
c.721T>A (p.Phe241Ile)
11g.68799287A>CCA381635322CPT1Ac.624T>G (p.Asp208Glu)
c.720T>G (p.Asp240Glu)
11g.68799287A>GCA475204896CPT1Ac.624T>C (p.Asp208=)
c.720T>C (p.Asp240=)
 dbSNP
11g.68799287A>TCA381635323CPT1Ac.624T>A (p.Asp208Glu)
c.720T>A (p.Asp240Glu)
11g.68799288T>ACA381635324CPT1Ac.623A>T (p.Asp208Val)
c.719A>T (p.Asp240Val)
11g.68799288T>CCA381635326CPT1Ac.623A>G (p.Asp208Gly)
c.719A>G (p.Asp240Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.68799288T>GCA381635328CPT1Ac.623A>C (p.Asp208Ala)
c.719A>C (p.Asp240Ala)
11g.68799289C>ACA6152607CPT1Ac.622G>T (p.Asp208Tyr)
c.718G>T (p.Asp240Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799289C>GCA381635330CPT1Ac.622G>C (p.Asp208His)
c.718G>C (p.Asp240His)
11g.68799289C>TCA381635332CPT1Ac.622G>A (p.Asp208Asn)
c.718G>A (p.Asp240Asn)
11g.68799290T>ACA381635333CPT1Ac.621A>T (p.Gln207His)
c.717A>T (p.Gln239His)
 gnomAD v4
11g.68799290T>CCA475204902CPT1Ac.621A>G (p.Gln207=)
c.717A>G (p.Gln239=)
11g.68799290T>GCA381635334CPT1Ac.621A>C (p.Gln207His)
c.717A>C (p.Gln239His)
11g.68799291T>ACA381635337CPT1Ac.620A>T (p.Gln207Leu)
c.716A>T (p.Gln239Leu)
11g.68799291T>CCA381635338CPT1Ac.620A>G (p.Gln207Arg)
c.716A>G (p.Gln239Arg)
 ClinVar dbSNP
11g.68799291T>GCA381635340CPT1Ac.620A>C (p.Gln207Pro)
c.716A>C (p.Gln239Pro)
11g.68799292G>ACA381635343CPT1Ac.619C>T (p.Gln207Ter)
c.715C>T (p.Gln239Ter)
 ClinVar gnomAD v4
11g.68799292G>CCA381635346CPT1Ac.619C>G (p.Gln207Glu)
c.715C>G (p.Gln239Glu)
 dbSNP gnomAD v4
11g.68799292G>TCA381635344CPT1Ac.619C>A (p.Gln207Lys)
c.715C>A (p.Gln239Lys)
11g.68799293A>CCA475204908CPT1Ac.618T>G (p.Ala206=)
c.714T>G (p.Ala238=)
11g.68799293A>GCA475204910CPT1Ac.618T>C (p.Ala206=)
c.714T>C (p.Ala238=)
11g.68799293A>TCA475204911CPT1Ac.618T>A (p.Ala206=)
c.714T>A (p.Ala238=)
11g.68799294G>ACA381635348CPT1Ac.617C>T (p.Ala206Val)
c.713C>T (p.Ala238Val)
 dbSNP
11g.68799294G>CCA381635350CPT1Ac.617C>G (p.Ala206Gly)
c.713C>G (p.Ala238Gly)
11g.68799294G>TCA381635352CPT1Ac.617C>A (p.Ala206Asp)
c.713C>A (p.Ala238Asp)
11g.68799295C>ACA381635353CPT1Ac.616G>T (p.Ala206Ser)
c.712G>T (p.Ala238Ser)
11g.68799295C>GCA381635355CPT1Ac.616G>C (p.Ala206Pro)
c.712G>C (p.Ala238Pro)
11g.68799295C>TCA381635357CPT1Ac.616G>A (p.Ala206Thr)
c.712G>A (p.Ala238Thr)
11g.68799296A>CCA475204917CPT1Ac.615T>G (p.Leu205=)
c.711T>G (p.Leu237=)
11g.68799296A>GCA475204919CPT1Ac.615T>C (p.Leu205=)
c.711T>C (p.Leu237=)
11g.68799296A>TCA475204920CPT1Ac.615T>A (p.Leu205=)
c.711T>A (p.Leu237=)
11g.68799297A>CCA381635359CPT1Ac.614T>G (p.Leu205Arg)
c.710T>G (p.Leu237Arg)
11g.68799297A>GCA381635361CPT1Ac.614T>C (p.Leu205Pro)
c.710T>C (p.Leu237Pro)
11g.68799297A>TCA381635363CPT1Ac.614T>A (p.Leu205His)
c.710T>A (p.Leu237His)
11g.68799298G>ACA6152608CPT1Ac.613C>T (p.Leu205Phe)
c.709C>T (p.Leu237Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799298G>CCA381635367CPT1Ac.613C>G (p.Leu205Val)
c.709C>G (p.Leu237Val)
11g.68799298G>TCA381635365CPT1Ac.613C>A (p.Leu205Ile)
c.709C>A (p.Leu237Ile)
11g.68799299T>ACA475204922CPT1Ac.612A>T (p.Ala204=)
c.708A>T (p.Ala236=)
 gnomAD v4
11g.68799299T>CCA475204924CPT1Ac.612A>G (p.Ala204=)
c.708A>G (p.Ala236=)
11g.68799299T>GCA475204925CPT1Ac.612A>C (p.Ala204=)
c.708A>C (p.Ala236=)
11g.68799300G>ACA223390032CPT1Ac.611C>T (p.Ala204Val)
c.707C>T (p.Ala236Val)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.68799300G>CCA381635369CPT1Ac.611C>G (p.Ala204Gly)
c.707C>G (p.Ala236Gly)
11g.68799300G>TCA6152609CPT1Ac.611C>A (p.Ala204Glu)
c.707C>A (p.Ala236Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799301C>ACA381635372CPT1Ac.610G>T (p.Ala204Ser)
c.706G>T (p.Ala236Ser)
11g.68799301C>GCA381635374CPT1Ac.610G>C (p.Ala204Pro)
c.706G>C (p.Ala236Pro)
11g.68799301C>TCA6152610CPT1Ac.610G>A (p.Ala204Thr)
c.706G>A (p.Ala236Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799302T>ACA475204928CPT1Ac.609A>T (p.Thr203=)
c.705A>T (p.Thr235=)
11g.68799302T>CCA475204931CPT1Ac.609A>G (p.Thr203=)
c.705A>G (p.Thr235=)
 gnomAD v4
11g.68799302T>GCA475204930CPT1Ac.609A>C (p.Thr203=)
c.705A>C (p.Thr235=)
11g.68799303G>ACA381635377CPT1Ac.608C>T (p.Thr203Ile)
c.704C>T (p.Thr235Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.68799303G>CCA381635379CPT1Ac.608C>G (p.Thr203Arg)
c.704C>G (p.Thr235Arg)
11g.68799303G>TCA381635381CPT1Ac.608C>A (p.Thr203Lys)
c.704C>A (p.Thr235Lys)
11g.68799304T>ACA381635383CPT1Ac.607A>T (p.Thr203Ser)
c.703A>T (p.Thr235Ser)
11g.68799304T>CCA381635385CPT1Ac.607A>G (p.Thr203Ala)
c.703A>G (p.Thr235Ala)
11g.68799304T>GCA381635386CPT1Ac.607A>C (p.Thr203Pro)
c.703A>C (p.Thr235Pro)
11g.68799305C>ACA381635391CPT1Ac.606G>T (p.Met202Ile)
c.702G>T (p.Met234Ile)
11g.68799305C>GCA381635388CPT1Ac.606G>C (p.Met202Ile)
c.702G>C (p.Met234Ile)
11g.68799305C>TCA381635389CPT1Ac.606G>A (p.Met202Ile)
c.702G>A (p.Met234Ile)
11g.68799306A>CCA381635393CPT1Ac.605T>G (p.Met202Arg)
c.701T>G (p.Met234Arg)
11g.68799306A>GCA381635394CPT1Ac.605T>C (p.Met202Thr)
c.701T>C (p.Met234Thr)
11g.68799306A>TCA381635396CPT1Ac.605T>A (p.Met202Lys)
c.701T>A (p.Met234Lys)
11g.68799307T>ACA381635398CPT1Ac.604A>T (p.Met202Leu)
c.700A>T (p.Met234Leu)
11g.68799307T>CCA381635400CPT1Ac.604A>G (p.Met202Val)
c.700A>G (p.Met234Val)
11g.68799307T>GCA381635402CPT1Ac.604A>C (p.Met202Leu)
c.700A>C (p.Met234Leu)
11g.68799308C>ACA6152611CPT1Ac.603G>T (p.Arg201=)
c.699G>T (p.Arg233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799308C>GCA475204943CPT1Ac.603G>C (p.Arg201=)
c.699G>C (p.Arg233=)
11g.68799308C>TCA475204944CPT1Ac.603G>A (p.Arg201=)
c.699G>A (p.Arg233=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.68799309C>ACA381635405CPT1Ac.602G>T (p.Arg201Leu)
c.698G>T (p.Arg233Leu)
11g.68799309C>GCA381635407CPT1Ac.602G>C (p.Arg201Pro)
c.698G>C (p.Arg233Pro)
11g.68799309C>TCA6152612CPT1Ac.602G>A (p.Arg201Gln)
c.698G>A (p.Arg233Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799310G>ACA6152613CPT1Ac.601C>T (p.Arg201Trp)
c.697C>T (p.Arg233Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68799310G>CCA381635411CPT1Ac.601C>G (p.Arg201Gly)
c.697C>G (p.Arg233Gly)
11g.68799310G>TCA475204947CPT1Ac.601C>A (p.Arg201=)
c.697C>A (p.Arg233=)
11g.68799311T>ACA381635413CPT1Ac.600A>T (p.Lys200Asn)
c.696A>T (p.Lys232Asn)
11g.68799311T>CCA475204948CPT1Ac.600A>G (p.Lys200=)
c.696A>G (p.Lys232=)
11g.68799311T>GCA381635415CPT1Ac.600A>C (p.Lys200Asn)
c.696A>C (p.Lys232Asn)
11g.68799312T>ACA381635417CPT1Ac.599A>T (p.Lys200Ile)
c.695A>T (p.Lys232Ile)
11g.68799312T>CCA381635421CPT1Ac.599A>G (p.Lys200Arg)
c.695A>G (p.Lys232Arg)
 dbSNP
11g.68799312T>GCA381635419CPT1Ac.599A>C (p.Lys200Thr)
c.695A>C (p.Lys232Thr)
11g.68799313T>ACA381635423CPT1Ac.598A>T (p.Lys200Ter)
c.694A>T (p.Lys232Ter)
11g.68799313T>CCA6152614CPT1Ac.598A>G (p.Lys200Glu)
c.694A>G (p.Lys232Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68799313T>GCA381635426CPT1Ac.598A>C (p.Lys200Gln)
c.694A>C (p.Lys232Gln)
11g.68799314G>ACA475204953CPT1Ac.597C>T (p.Phe199=)
c.693C>T (p.Phe231=)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.68799314G>CCA6152615CPT1Ac.597C>G (p.Phe199Leu)
c.693C>G (p.Phe231Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68799314G>TCA381635429CPT1Ac.597C>A (p.Phe199Leu)
c.693C>A (p.Phe231Leu)
11g.68799315A>CCA381635430CPT1Ac.596T>G (p.Phe199Cys)
c.692T>G (p.Phe231Cys)
11g.68799315A>GCA381635432CPT1Ac.596T>C (p.Phe199Ser)
c.692T>C (p.Phe231Ser)
11g.68799315A>TCA381635434CPT1Ac.596T>A (p.Phe199Tyr)
c.692T>A (p.Phe231Tyr)
 gnomAD v4
11g.68799316A>CCA381635435CPT1Ac.595T>G (p.Phe199Val)
c.691T>G (p.Phe231Val)
11g.68799316A>GCA381635437CPT1Ac.595T>C (p.Phe199Leu)
c.691T>C (p.Phe231Leu)
 gnomAD v4
11g.68799316A>TCA381635439CPT1Ac.595T>A (p.Phe199Ile)
c.691T>A (p.Phe231Ile)
11g.68799317G>ACA475204958CPT1Ac.594C>T (p.Asp198=)
c.690C>T (p.Asp230=)
11g.68799317G>CCA381635443CPT1Ac.594C>G (p.Asp198Glu)
c.690C>G (p.Asp230Glu)
11g.68799317G>TCA381635441CPT1Ac.594C>A (p.Asp198Glu)
c.690C>A (p.Asp230Glu)
11g.68799318T>ACA381635445CPT1Ac.593A>T (p.Asp198Val)
c.689A>T (p.Asp230Val)
11g.68799318T>CCA381635447CPT1Ac.593A>G (p.Asp198Gly)
c.689A>G (p.Asp230Gly)
11g.68799318T>GCA381635449CPT1Ac.593A>C (p.Asp198Ala)
c.689A>C (p.Asp230Ala)
 dbSNP
11g.68799319C>ACA381635451CPT1Ac.592G>T (p.Asp198Tyr)
c.688G>T (p.Asp230Tyr)
 gnomAD v4
11g.68799319C>GCA381635453CPT1Ac.592G>C (p.Asp198His)
c.688G>C (p.Asp230His)
11g.68799319C>TCA381635455CPT1Ac.592G>A (p.Asp198Asn)
c.688G>A (p.Asp230Asn)
11g.68799320T>ACA381635457CPT1Ac.591A>T (p.Glu197Asp)
c.687A>T (p.Glu229Asp)
11g.68799320T>CCA475204965CPT1Ac.591A>G (p.Glu197=)
c.687A>G (p.Glu229=)
11g.68799320T>GCA381635459CPT1Ac.591A>C (p.Glu197Asp)
c.687A>C (p.Glu229Asp)
11g.68799321T>ACA381635461CPT1Ac.590A>T (p.Glu197Val)
c.686A>T (p.Glu229Val)
11g.68799321T>CCA381635463CPT1Ac.590A>G (p.Glu197Gly)
c.686A>G (p.Glu229Gly)
 gnomAD v4
11g.68799321T>GCA381635464CPT1Ac.590A>C (p.Glu197Ala)
c.686A>C (p.Glu229Ala)
11g.68799322C>ACA381635468CPT1Ac.589G>T (p.Glu197Ter)
c.685G>T (p.Glu229Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.68799322C>GCA381635470CPT1Ac.589G>C (p.Glu197Gln)
c.685G>C (p.Glu229Gln)
 dbSNP gnomAD v4
11g.68799322C>TCA381635466CPT1Ac.589G>A (p.Glu197Lys)
c.685G>A (p.Glu229Lys)

Number of alleles fetched