Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.10404563G>ACA362701255TFAP2A,TFAP2A-AS2c.691C>T (p.Arg231Trp)
c.715C>T (p.Arg239Trp)
c.*206C>T (n.*206C>T)
c.280C>T (p.Arg94Trp)
c.697C>T (p.Arg233Trp)
c.32C>T
c.709C>T (p.Arg237Trp)
c.423C>T
n.709C>T
n.680C>T
c.844C>T (p.Arg282Trp)
c.559C>T (p.Arg187Trp)
n.62G>A
c.955C>T (p.Arg319Trp)
6g.10404563G>CCA134049088TFAP2A,TFAP2A-AS2c.691C>G (p.Arg231Gly)
c.715C>G (p.Arg239Gly)
c.*206C>G (n.*206C>G)
c.280C>G (p.Arg94Gly)
c.697C>G (p.Arg233Gly)
c.32C>G
c.709C>G (p.Arg237Gly)
c.423C>G
n.709C>G
n.680C>G
c.844C>G (p.Arg282Gly)
c.559C>G (p.Arg187Gly)
n.62G>C
c.955C>G (p.Arg319Gly)
 dbSNP
6g.10404563G=CA1609976748TFAP2A,TFAP2A-AS2c.691C= (p.Arg231=)
c.715C= (p.Arg239=)
c.*206C= (n.*206C=)
c.280C= (p.Arg94=)
c.697C= (p.Arg233=)
c.32C=
c.709C= (p.Arg237=)
c.423C=
n.709C=
n.680C=
c.844C= (p.Arg282=)
c.559C= (p.Arg187=)
n.62G=
c.955C= (p.Arg319=)
6g.10404563G>TCA448717595TFAP2A,TFAP2A-AS2c.691C>A (p.Arg231=)
c.715C>A (p.Arg239=)
c.*206C>A (n.*206C>A)
c.280C>A (p.Arg94=)
c.697C>A (p.Arg233=)
c.32C>A
c.709C>A (p.Arg237=)
c.423C>A
n.709C>A
n.680C>A
c.844C>A (p.Arg282=)
c.559C>A (p.Arg187=)
n.62G>T
c.955C>A (p.Arg319=)
 gnomAD v4
6g.10404564C>ACA448717597TFAP2A,TFAP2A-AS2c.690G>T (p.Arg230=)
c.714G>T (p.Arg238=)
c.*205G>T (n.*205G>T)
c.279G>T (p.Arg93=)
c.696G>T (p.Arg232=)
c.31G>T
c.708G>T (p.Arg236=)
c.422G>T
n.708G>T
n.679G>T
c.843G>T (p.Arg281=)
c.558G>T (p.Arg186=)
n.63C>A
c.954G>T (p.Arg318=)
6g.10404564C=CA1609976749TFAP2A,TFAP2A-AS2c.690G= (p.Arg230=)
c.714G= (p.Arg238=)
c.*205G= (n.*205G=)
c.279G= (p.Arg93=)
c.696G= (p.Arg232=)
c.31G=
c.708G= (p.Arg236=)
c.422G=
n.708G=
n.679G=
c.843G= (p.Arg281=)
c.558G= (p.Arg186=)
n.63C=
c.954G= (p.Arg318=)
6g.10404564C>GCA448717600TFAP2A,TFAP2A-AS2c.690G>C (p.Arg230=)
c.714G>C (p.Arg238=)
c.*205G>C (n.*205G>C)
c.279G>C (p.Arg93=)
c.696G>C (p.Arg232=)
c.31G>C
c.708G>C (p.Arg236=)
c.422G>C
n.708G>C
n.679G>C
c.843G>C (p.Arg281=)
c.558G>C (p.Arg186=)
n.63C>G
c.954G>C (p.Arg318=)
 dbSNP
6g.10404564C>TCA3631268TFAP2A,TFAP2A-AS2c.690G>A (p.Arg230=)
c.714G>A (p.Arg238=)
c.*205G>A (n.*205G>A)
c.279G>A (p.Arg93=)
c.696G>A (p.Arg232=)
c.31G>A
c.708G>A (p.Arg236=)
c.422G>A
n.708G>A
n.679G>A
c.843G>A (p.Arg281=)
c.558G>A (p.Arg186=)
n.63C>T
c.954G>A (p.Arg318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404565delCA645560345TFAP2A,TFAP2A-AS2c.690del (p.Arg231GlyfsTer29)
c.714del (p.Arg239GlyfsTer29)
c.*205del (n.*205del)
c.279del (p.Arg94GlyfsTer29)
c.696del (p.Arg233GlyfsTer29)
c.31del
c.708del (p.Arg237GlyfsTer29)
c.422del
n.708del
n.679del
c.843del (p.Arg282GlyfsTer29)
c.558del (p.Arg187GlyfsTer29)
n.64del
c.954del (p.Arg319GlyfsTer29)
 COSMIC COSMIC COSMIC
6g.10404565_10404576delCA2580074210TFAP2A,TFAP2A-AS2c.679_690del (p.Glu227_Arg230del)
c.703_714del (p.Glu235_Arg238del)
c.*194_*205del (n.*194_*205del)
c.268_279del (p.Glu90_Arg93del)
c.685_696del (p.Glu229_Arg232del)
c.20_31del
c.697_708del (p.Glu233_Arg236del)
c.411_422del
n.697_708del
n.668_679del
c.832_843del (p.Glu278_Arg281del)
c.547_558del (p.Glu183_Arg186del)
n.64_75del
c.943_954del (p.Glu315_Arg318del)
 ClinVar
6g.10404565C>ACA362701259TFAP2A,TFAP2A-AS2c.689G>T (p.Arg230Leu)
c.713G>T (p.Arg238Leu)
c.*204G>T (n.*204G>T)
c.278G>T (p.Arg93Leu)
c.695G>T (p.Arg232Leu)
c.30G>T
c.707G>T (p.Arg236Leu)
c.421G>T
n.707G>T
n.678G>T
c.842G>T (p.Arg281Leu)
c.557G>T (p.Arg186Leu)
n.64C>A
c.953G>T (p.Arg318Leu)
6g.10404565C>GCA362701261TFAP2A,TFAP2A-AS2c.689G>C (p.Arg230Pro)
c.713G>C (p.Arg238Pro)
c.*204G>C (n.*204G>C)
c.278G>C (p.Arg93Pro)
c.695G>C (p.Arg232Pro)
c.30G>C
c.707G>C (p.Arg236Pro)
c.421G>C
n.707G>C
n.678G>C
c.842G>C (p.Arg281Pro)
c.557G>C (p.Arg186Pro)
n.64C>G
c.953G>C (p.Arg318Pro)
 ClinVar dbSNP
6g.10404565C>TCA362701263TFAP2A,TFAP2A-AS2c.689G>A (p.Arg230Gln)
c.713G>A (p.Arg238Gln)
c.*204G>A (n.*204G>A)
c.278G>A (p.Arg93Gln)
c.695G>A (p.Arg232Gln)
c.30G>A
c.707G>A (p.Arg236Gln)
c.421G>A
n.707G>A
n.678G>A
c.842G>A (p.Arg281Gln)
c.557G>A (p.Arg186Gln)
n.64C>T
c.953G>A (p.Arg318Gln)
6g.10404566G>ACA362701265TFAP2A,TFAP2A-AS2c.688C>T (p.Arg230Trp)
c.712C>T (p.Arg238Trp)
c.*203C>T (n.*203C>T)
c.277C>T (p.Arg93Trp)
c.694C>T (p.Arg232Trp)
c.29C>T
c.706C>T (p.Arg236Trp)
c.420C>T
n.706C>T
n.677C>T
c.841C>T (p.Arg281Trp)
c.556C>T (p.Arg186Trp)
n.65G>A
c.952C>T (p.Arg318Trp)
 ClinVar dbSNP COSMIC COSMIC COSMIC
6g.10404566G>CCA362701267TFAP2A,TFAP2A-AS2c.688C>G (p.Arg230Gly)
c.712C>G (p.Arg238Gly)
c.*203C>G (n.*203C>G)
c.277C>G (p.Arg93Gly)
c.694C>G (p.Arg232Gly)
c.29C>G
c.706C>G (p.Arg236Gly)
c.420C>G
n.706C>G
n.677C>G
c.841C>G (p.Arg281Gly)
c.556C>G (p.Arg186Gly)
n.65G>C
c.952C>G (p.Arg318Gly)
6g.10404566G=CA1609976750TFAP2A,TFAP2A-AS2c.688C= (p.Arg230=)
c.712C= (p.Arg238=)
c.*203C= (n.*203C=)
c.277C= (p.Arg93=)
c.694C= (p.Arg232=)
c.29C=
c.706C= (p.Arg236=)
c.420C=
n.706C=
n.677C=
c.841C= (p.Arg281=)
c.556C= (p.Arg186=)
n.65G=
c.952C= (p.Arg318=)
6g.10404566G>TCA448717602TFAP2A,TFAP2A-AS2c.688C>A (p.Arg230=)
c.712C>A (p.Arg238=)
c.*203C>A (n.*203C>A)
c.277C>A (p.Arg93=)
c.694C>A (p.Arg232=)
c.29C>A
c.706C>A (p.Arg236=)
c.420C>A
n.706C>A
n.677C>A
c.841C>A (p.Arg281=)
c.556C>A (p.Arg186=)
n.65G>T
c.952C>A (p.Arg318=)
6g.10404567C>ACA362701268TFAP2A,TFAP2A-AS2c.687G>T (p.Gln229His)
c.711G>T (p.Gln237His)
c.*202G>T (n.*202G>T)
c.276G>T (p.Gln92His)
c.693G>T (p.Gln231His)
c.28G>T
c.705G>T (p.Gln235His)
c.419G>T
n.705G>T
n.676G>T
c.840G>T (p.Gln280His)
c.555G>T (p.Gln185His)
n.66C>A
c.951G>T (p.Gln317His)
6g.10404567C>GCA362701270TFAP2A,TFAP2A-AS2c.687G>C (p.Gln229His)
c.711G>C (p.Gln237His)
c.*202G>C (n.*202G>C)
c.276G>C (p.Gln92His)
c.693G>C (p.Gln231His)
c.28G>C
c.705G>C (p.Gln235His)
c.419G>C
n.705G>C
n.676G>C
c.840G>C (p.Gln280His)
c.555G>C (p.Gln185His)
n.66C>G
c.951G>C (p.Gln317His)
6g.10404567C>TCA448717603TFAP2A,TFAP2A-AS2c.687G>A (p.Gln229=)
c.711G>A (p.Gln237=)
c.*202G>A (n.*202G>A)
c.276G>A (p.Gln92=)
c.693G>A (p.Gln231=)
c.28G>A
c.705G>A (p.Gln235=)
c.419G>A
n.705G>A
n.676G>A
c.840G>A (p.Gln280=)
c.555G>A (p.Gln185=)
n.66C>T
c.951G>A (p.Gln317=)
 gnomAD v4
6g.10404568T>ACA362701276TFAP2A,TFAP2A-AS2c.686A>T (p.Gln229Leu)
c.710A>T (p.Gln237Leu)
c.*201A>T (n.*201A>T)
c.275A>T (p.Gln92Leu)
c.692A>T (p.Gln231Leu)
c.27A>T
c.704A>T (p.Gln235Leu)
c.418A>T
n.704A>T
n.675A>T
c.839A>T (p.Gln280Leu)
c.554A>T (p.Gln185Leu)
n.67T>A
c.950A>T (p.Gln317Leu)
 dbSNP
6g.10404568T>CCA362701274TFAP2A,TFAP2A-AS2c.686A>G (p.Gln229Arg)
c.710A>G (p.Gln237Arg)
c.*201A>G (n.*201A>G)
c.275A>G (p.Gln92Arg)
c.692A>G (p.Gln231Arg)
c.27A>G
c.704A>G (p.Gln235Arg)
c.418A>G
n.704A>G
n.675A>G
c.839A>G (p.Gln280Arg)
c.554A>G (p.Gln185Arg)
n.67T>C
c.950A>G (p.Gln317Arg)
 gnomAD v4
6g.10404568T>GCA362701273TFAP2A,TFAP2A-AS2c.686A>C (p.Gln229Pro)
c.710A>C (p.Gln237Pro)
c.*201A>C (n.*201A>C)
c.275A>C (p.Gln92Pro)
c.692A>C (p.Gln231Pro)
c.27A>C
c.704A>C (p.Gln235Pro)
c.418A>C
n.704A>C
n.675A>C
c.839A>C (p.Gln280Pro)
c.554A>C (p.Gln185Pro)
n.67T>G
c.950A>C (p.Gln317Pro)
6g.10404568T=CA1609976751TFAP2A,TFAP2A-AS2c.686A= (p.Gln229=)
c.710A= (p.Gln237=)
c.*201A= (n.*201A=)
c.275A= (p.Gln92=)
c.692A= (p.Gln231=)
c.27A=
c.704A= (p.Gln235=)
c.418A=
n.704A=
n.675A=
c.839A= (p.Gln280=)
c.554A= (p.Gln185=)
n.67T=
c.950A= (p.Gln317=)
6g.10404569G>ACA362701277TFAP2A,TFAP2A-AS2c.685C>T (p.Gln229Ter)
c.709C>T (p.Gln237Ter)
c.*200C>T (n.*200C>T)
c.274C>T (p.Gln92Ter)
c.691C>T (p.Gln231Ter)
c.26C>T
c.703C>T (p.Gln235Ter)
c.417C>T
n.703C>T
n.674C>T
c.838C>T (p.Gln280Ter)
c.553C>T (p.Gln185Ter)
n.68G>A
c.949C>T (p.Gln317Ter)
6g.10404569G>CCA362701279TFAP2A,TFAP2A-AS2c.685C>G (p.Gln229Glu)
c.709C>G (p.Gln237Glu)
c.*200C>G (n.*200C>G)
c.274C>G (p.Gln92Glu)
c.691C>G (p.Gln231Glu)
c.26C>G
c.703C>G (p.Gln235Glu)
c.417C>G
n.703C>G
n.674C>G
c.838C>G (p.Gln280Glu)
c.553C>G (p.Gln185Glu)
n.68G>C
c.949C>G (p.Gln317Glu)
6g.10404569G>TCA362701281TFAP2A,TFAP2A-AS2c.685C>A (p.Gln229Lys)
c.709C>A (p.Gln237Lys)
c.*200C>A (n.*200C>A)
c.274C>A (p.Gln92Lys)
c.691C>A (p.Gln231Lys)
c.26C>A
c.703C>A (p.Gln235Lys)
c.417C>A
n.703C>A
n.674C>A
c.838C>A (p.Gln280Lys)
c.553C>A (p.Gln185Lys)
n.68G>T
c.949C>A (p.Gln317Lys)
6g.10404570C>ACA448717605TFAP2A,TFAP2A-AS2c.684G>T (p.Val228=)
c.708G>T (p.Val236=)
c.*199G>T (n.*199G>T)
c.273G>T (p.Val91=)
c.690G>T (p.Val230=)
c.25G>T
c.702G>T (p.Val234=)
c.416G>T
n.702G>T
n.673G>T
c.837G>T (p.Val279=)
c.552G>T (p.Val184=)
n.69C>A
c.948G>T (p.Val316=)
 gnomAD v4
6g.10404570C=CA1609976752TFAP2A,TFAP2A-AS2c.684G= (p.Val228=)
c.708G= (p.Val236=)
c.*199G= (n.*199G=)
c.273G= (p.Val91=)
c.690G= (p.Val230=)
c.25G=
c.702G= (p.Val234=)
c.416G=
n.702G=
n.673G=
c.837G= (p.Val279=)
c.552G= (p.Val184=)
n.69C=
c.948G= (p.Val316=)
6g.10404570C>GCA448717608TFAP2A,TFAP2A-AS2c.684G>C (p.Val228=)
c.708G>C (p.Val236=)
c.*199G>C (n.*199G>C)
c.273G>C (p.Val91=)
c.690G>C (p.Val230=)
c.25G>C
c.702G>C (p.Val234=)
c.416G>C
n.702G>C
n.673G>C
c.837G>C (p.Val279=)
c.552G>C (p.Val184=)
n.69C>G
c.948G>C (p.Val316=)
6g.10404570C>TCA448717606TFAP2A,TFAP2A-AS2c.684G>A (p.Val228=)
c.708G>A (p.Val236=)
c.*199G>A (n.*199G>A)
c.273G>A (p.Val91=)
c.690G>A (p.Val230=)
c.25G>A
c.702G>A (p.Val234=)
c.416G>A
n.702G>A
n.673G>A
c.837G>A (p.Val279=)
c.552G>A (p.Val184=)
n.69C>T
c.948G>A (p.Val316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404571A>CCA362701283TFAP2A,TFAP2A-AS2c.683T>G (p.Val228Gly)
c.707T>G (p.Val236Gly)
c.*198T>G (n.*198T>G)
c.272T>G (p.Val91Gly)
c.689T>G (p.Val230Gly)
c.24T>G
c.701T>G (p.Val234Gly)
c.415T>G
n.701T>G
n.672T>G
c.836T>G (p.Val279Gly)
c.551T>G (p.Val184Gly)
n.70A>C
c.947T>G (p.Val316Gly)
6g.10404571A>GCA362701285TFAP2A,TFAP2A-AS2c.683T>C (p.Val228Ala)
c.707T>C (p.Val236Ala)
c.*198T>C (n.*198T>C)
c.272T>C (p.Val91Ala)
c.689T>C (p.Val230Ala)
c.24T>C
c.701T>C (p.Val234Ala)
c.415T>C
n.701T>C
n.672T>C
c.836T>C (p.Val279Ala)
c.551T>C (p.Val184Ala)
n.70A>G
c.947T>C (p.Val316Ala)
6g.10404571A>TCA362701286TFAP2A,TFAP2A-AS2c.683T>A (p.Val228Glu)
c.707T>A (p.Val236Glu)
c.*198T>A (n.*198T>A)
c.272T>A (p.Val91Glu)
c.689T>A (p.Val230Glu)
c.24T>A
c.701T>A (p.Val234Glu)
c.415T>A
n.701T>A
n.672T>A
c.836T>A (p.Val279Glu)
c.551T>A (p.Val184Glu)
n.70A>T
c.947T>A (p.Val316Glu)
6g.10404572C>ACA362701289TFAP2A,TFAP2A-AS2c.682G>T (p.Val228Leu)
c.706G>T (p.Val236Leu)
c.*197G>T (n.*197G>T)
c.271G>T (p.Val91Leu)
c.688G>T (p.Val230Leu)
c.23G>T
c.700G>T (p.Val234Leu)
c.414G>T
n.700G>T
n.671G>T
c.835G>T (p.Val279Leu)
c.550G>T (p.Val184Leu)
n.71C>A
c.946G>T (p.Val316Leu)
6g.10404572C>GCA362701291TFAP2A,TFAP2A-AS2c.682G>C (p.Val228Leu)
c.706G>C (p.Val236Leu)
c.*197G>C (n.*197G>C)
c.271G>C (p.Val91Leu)
c.688G>C (p.Val230Leu)
c.23G>C
c.700G>C (p.Val234Leu)
c.414G>C
n.700G>C
n.671G>C
c.835G>C (p.Val279Leu)
c.550G>C (p.Val184Leu)
n.71C>G
c.946G>C (p.Val316Leu)
6g.10404572C>TCA362701292TFAP2A,TFAP2A-AS2c.682G>A (p.Val228Met)
c.706G>A (p.Val236Met)
c.*197G>A (n.*197G>A)
c.271G>A (p.Val91Met)
c.688G>A (p.Val230Met)
c.23G>A
c.700G>A (p.Val234Met)
c.414G>A
n.700G>A
n.671G>A
c.835G>A (p.Val279Met)
c.550G>A (p.Val184Met)
n.71C>T
c.946G>A (p.Val316Met)
 gnomAD v4
6g.10404573T>ACA362701294TFAP2A,TFAP2A-AS2c.681A>T (p.Glu227Asp)
c.705A>T (p.Glu235Asp)
c.*196A>T (n.*196A>T)
c.270A>T (p.Glu90Asp)
c.687A>T (p.Glu229Asp)
c.22A>T
c.699A>T (p.Glu233Asp)
c.413A>T
n.699A>T
n.670A>T
c.834A>T (p.Glu278Asp)
c.549A>T (p.Glu183Asp)
n.72T>A
c.945A>T (p.Glu315Asp)
6g.10404573T>CCA448717610TFAP2A,TFAP2A-AS2c.681A>G (p.Glu227=)
c.705A>G (p.Glu235=)
c.*196A>G (n.*196A>G)
c.270A>G (p.Glu90=)
c.687A>G (p.Glu229=)
c.22A>G
c.699A>G (p.Glu233=)
c.413A>G
n.699A>G
n.670A>G
c.834A>G (p.Glu278=)
c.549A>G (p.Glu183=)
n.72T>C
c.945A>G (p.Glu315=)
6g.10404573T>GCA362701296TFAP2A,TFAP2A-AS2c.681A>C (p.Glu227Asp)
c.705A>C (p.Glu235Asp)
c.*196A>C (n.*196A>C)
c.270A>C (p.Glu90Asp)
c.687A>C (p.Glu229Asp)
c.22A>C
c.699A>C (p.Glu233Asp)
c.413A>C
n.699A>C
n.670A>C
c.834A>C (p.Glu278Asp)
c.549A>C (p.Glu183Asp)
n.72T>G
c.945A>C (p.Glu315Asp)
6g.10404574dupCA645560346TFAP2A,TFAP2A-AS2c.681dup (p.Val228SerfsTer26)
c.705dup (p.Val236SerfsTer26)
c.*196dup (n.*196dup)
c.270dup (p.Val91SerfsTer26)
c.687dup (p.Val230SerfsTer26)
c.22dup
c.699dup (p.Val234SerfsTer26)
c.413dup
n.699dup
n.670dup
c.834dup (p.Val279SerfsTer26)
c.549dup (p.Val184SerfsTer26)
n.73dup
c.945dup (p.Val316SerfsTer26)
 COSMIC COSMIC COSMIC
6g.10404574T>ACA362701298TFAP2A,TFAP2A-AS2c.680A>T (p.Glu227Val)
c.704A>T (p.Glu235Val)
c.*195A>T (n.*195A>T)
c.269A>T (p.Glu90Val)
c.686A>T (p.Glu229Val)
c.21A>T
c.698A>T (p.Glu233Val)
c.412A>T
n.698A>T
n.669A>T
c.833A>T (p.Glu278Val)
c.548A>T (p.Glu183Val)
n.73T>A
c.944A>T (p.Glu315Val)
6g.10404574T>CCA362701300TFAP2A,TFAP2A-AS2c.680A>G (p.Glu227Gly)
c.704A>G (p.Glu235Gly)
c.*195A>G (n.*195A>G)
c.269A>G (p.Glu90Gly)
c.686A>G (p.Glu229Gly)
c.21A>G
c.698A>G (p.Glu233Gly)
c.412A>G
n.698A>G
n.669A>G
c.833A>G (p.Glu278Gly)
c.548A>G (p.Glu183Gly)
n.73T>C
c.944A>G (p.Glu315Gly)
6g.10404574T>GCA362701302TFAP2A,TFAP2A-AS2c.680A>C (p.Glu227Ala)
c.704A>C (p.Glu235Ala)
c.*195A>C (n.*195A>C)
c.269A>C (p.Glu90Ala)
c.686A>C (p.Glu229Ala)
c.21A>C
c.698A>C (p.Glu233Ala)
c.412A>C
n.698A>C
n.669A>C
c.833A>C (p.Glu278Ala)
c.548A>C (p.Glu183Ala)
n.73T>G
c.944A>C (p.Glu315Ala)
6g.10404575C>ACA362701306TFAP2A,TFAP2A-AS2c.679G>T (p.Glu227Ter)
c.703G>T (p.Glu235Ter)
c.*194G>T (n.*194G>T)
c.268G>T (p.Glu90Ter)
c.685G>T (p.Glu229Ter)
c.20G>T
c.697G>T (p.Glu233Ter)
c.411G>T
n.697G>T
n.668G>T
c.832G>T (p.Glu278Ter)
c.547G>T (p.Glu183Ter)
n.74C>A
c.943G>T (p.Glu315Ter)
6g.10404575C=CA1609976753TFAP2A,TFAP2A-AS2c.679G= (p.Glu227=)
c.703G= (p.Glu235=)
c.*194G= (n.*194G=)
c.268G= (p.Glu90=)
c.685G= (p.Glu229=)
c.20G=
c.697G= (p.Glu233=)
c.411G=
n.697G=
n.668G=
c.832G= (p.Glu278=)
c.547G= (p.Glu183=)
n.74C=
c.943G= (p.Glu315=)
6g.10404575C>GCA362701308TFAP2A,TFAP2A-AS2c.679G>C (p.Glu227Gln)
c.703G>C (p.Glu235Gln)
c.*194G>C (n.*194G>C)
c.268G>C (p.Glu90Gln)
c.685G>C (p.Glu229Gln)
c.20G>C
c.697G>C (p.Glu233Gln)
c.411G>C
n.697G>C
n.668G>C
c.832G>C (p.Glu278Gln)
c.547G>C (p.Glu183Gln)
n.74C>G
c.943G>C (p.Glu315Gln)
6g.10404575C>TCA362701304TFAP2A,TFAP2A-AS2c.679G>A (p.Glu227Lys)
c.703G>A (p.Glu235Lys)
c.*194G>A (n.*194G>A)
c.268G>A (p.Glu90Lys)
c.685G>A (p.Glu229Lys)
c.20G>A
c.697G>A (p.Glu233Lys)
c.411G>A
n.697G>A
n.668G>A
c.832G>A (p.Glu278Lys)
c.547G>A (p.Glu183Lys)
n.74C>T
c.943G>A (p.Glu315Lys)
 ClinVar dbSNP
6g.10404576C>ACA448717611TFAP2A,TFAP2A-AS2c.678G>T (p.Ala226=)
c.702G>T (p.Ala234=)
c.*193G>T (n.*193G>T)
c.267G>T (p.Ala89=)
c.684G>T (p.Ala228=)
c.19G>T
c.696G>T (p.Ala232=)
c.410G>T
n.696G>T
n.667G>T
c.831G>T (p.Ala277=)
c.546G>T (p.Ala182=)
n.75C>A
c.942G>T (p.Ala314=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404576C=CA1609976754TFAP2A,TFAP2A-AS2c.678G= (p.Ala226=)
c.702G= (p.Ala234=)
c.*193G= (n.*193G=)
c.267G= (p.Ala89=)
c.684G= (p.Ala228=)
c.19G=
c.696G= (p.Ala232=)
c.410G=
n.696G=
n.667G=
c.831G= (p.Ala277=)
c.546G= (p.Ala182=)
n.75C=
c.942G= (p.Ala314=)
6g.10404576C>GCA448717612TFAP2A,TFAP2A-AS2c.678G>C (p.Ala226=)
c.702G>C (p.Ala234=)
c.*193G>C (n.*193G>C)
c.267G>C (p.Ala89=)
c.684G>C (p.Ala228=)
c.19G>C
c.696G>C (p.Ala232=)
c.410G>C
n.696G>C
n.667G>C
c.831G>C (p.Ala277=)
c.546G>C (p.Ala182=)
n.75C>G
c.942G>C (p.Ala314=)
 gnomAD v4
6g.10404576C>TCA134049094TFAP2A,TFAP2A-AS2c.678G>A (p.Ala226=)
c.702G>A (p.Ala234=)
c.*193G>A (n.*193G>A)
c.267G>A (p.Ala89=)
c.684G>A (p.Ala228=)
c.19G>A
c.696G>A (p.Ala232=)
c.410G>A
n.696G>A
n.667G>A
c.831G>A (p.Ala277=)
c.546G>A (p.Ala182=)
n.75C>T
c.942G>A (p.Ala314=)
 ClinVar dbSNP gnomAD v4
6g.10404577G>ACA362701311TFAP2A,TFAP2A-AS2c.677C>T (p.Ala226Val)
c.701C>T (p.Ala234Val)
c.*192C>T (n.*192C>T)
c.266C>T (p.Ala89Val)
c.683C>T (p.Ala228Val)
c.18C>T
c.695C>T (p.Ala232Val)
c.409C>T
n.695C>T
n.666C>T
c.830C>T (p.Ala277Val)
c.545C>T (p.Ala182Val)
n.76G>A
c.941C>T (p.Ala314Val)
6g.10404577G>CCA362701312TFAP2A,TFAP2A-AS2c.677C>G (p.Ala226Gly)
c.701C>G (p.Ala234Gly)
c.*192C>G (n.*192C>G)
c.266C>G (p.Ala89Gly)
c.683C>G (p.Ala228Gly)
c.18C>G
c.695C>G (p.Ala232Gly)
c.409C>G
n.695C>G
n.666C>G
c.830C>G (p.Ala277Gly)
c.545C>G (p.Ala182Gly)
n.76G>C
c.941C>G (p.Ala314Gly)
 gnomAD v4
6g.10404577G>TCA362701314TFAP2A,TFAP2A-AS2c.677C>A (p.Ala226Glu)
c.701C>A (p.Ala234Glu)
c.*192C>A (n.*192C>A)
c.266C>A (p.Ala89Glu)
c.683C>A (p.Ala228Glu)
c.18C>A
c.695C>A (p.Ala232Glu)
c.409C>A
n.695C>A
n.666C>A
c.830C>A (p.Ala277Glu)
c.545C>A (p.Ala182Glu)
n.76G>T
c.941C>A (p.Ala314Glu)
 gnomAD v4
6g.10404578C>ACA362701316TFAP2A,TFAP2A-AS2c.676G>T (p.Ala226Ser)
c.700G>T (p.Ala234Ser)
c.*191G>T (n.*191G>T)
c.265G>T (p.Ala89Ser)
c.682G>T (p.Ala228Ser)
c.17G>T
c.694G>T (p.Ala232Ser)
c.408G>T
n.694G>T
n.665G>T
c.829G>T (p.Ala277Ser)
c.544G>T (p.Ala182Ser)
n.77C>A
c.940G>T (p.Ala314Ser)
6g.10404578C=CA1609976755TFAP2A,TFAP2A-AS2c.676G= (p.Ala226=)
c.700G= (p.Ala234=)
c.*191G= (n.*191G=)
c.265G= (p.Ala89=)
c.682G= (p.Ala228=)
c.17G=
c.694G= (p.Ala232=)
c.408G=
n.694G=
n.665G=
c.829G= (p.Ala277=)
c.544G= (p.Ala182=)
n.77C=
c.940G= (p.Ala314=)
6g.10404578C>GCA362701318TFAP2A,TFAP2A-AS2c.676G>C (p.Ala226Pro)
c.700G>C (p.Ala234Pro)
c.*191G>C (n.*191G>C)
c.265G>C (p.Ala89Pro)
c.682G>C (p.Ala228Pro)
c.17G>C
c.694G>C (p.Ala232Pro)
c.408G>C
n.694G>C
n.665G>C
c.829G>C (p.Ala277Pro)
c.544G>C (p.Ala182Pro)
n.77C>G
c.940G>C (p.Ala314Pro)
6g.10404578C>TCA362701320TFAP2A,TFAP2A-AS2c.676G>A (p.Ala226Thr)
c.700G>A (p.Ala234Thr)
c.*191G>A (n.*191G>A)
c.265G>A (p.Ala89Thr)
c.682G>A (p.Ala228Thr)
c.17G>A
c.694G>A (p.Ala232Thr)
c.408G>A
n.694G>A
n.665G>A
c.829G>A (p.Ala277Thr)
c.544G>A (p.Ala182Thr)
n.77C>T
c.940G>A (p.Ala314Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.10404579C>ACA448717613TFAP2A,TFAP2A-AS2c.675G>T (p.Val225=)
c.699G>T (p.Val233=)
c.*190G>T (n.*190G>T)
c.264G>T (p.Val88=)
c.681G>T (p.Val227=)
c.16G>T
c.693G>T (p.Val231=)
c.407G>T
n.693G>T
n.664G>T
c.828G>T (p.Val276=)
c.543G>T (p.Val181=)
n.78C>A
c.939G>T (p.Val313=)
6g.10404579C>GCA448717614TFAP2A,TFAP2A-AS2c.675G>C (p.Val225=)
c.699G>C (p.Val233=)
c.*190G>C (n.*190G>C)
c.264G>C (p.Val88=)
c.681G>C (p.Val227=)
c.16G>C
c.693G>C (p.Val231=)
c.407G>C
n.693G>C
n.664G>C
c.828G>C (p.Val276=)
c.543G>C (p.Val181=)
n.78C>G
c.939G>C (p.Val313=)
 gnomAD v4
6g.10404579C>TCA448717615TFAP2A,TFAP2A-AS2c.675G>A (p.Val225=)
c.699G>A (p.Val233=)
c.*190G>A (n.*190G>A)
c.264G>A (p.Val88=)
c.681G>A (p.Val227=)
c.16G>A
c.693G>A (p.Val231=)
c.407G>A
n.693G>A
n.664G>A
c.828G>A (p.Val276=)
c.543G>A (p.Val181=)
n.78C>T
c.939G>A (p.Val313=)
6g.10404580A>CCA362701322TFAP2A,TFAP2A-AS2c.674T>G (p.Val225Gly)
c.698T>G (p.Val233Gly)
c.*189T>G (n.*189T>G)
c.263T>G (p.Val88Gly)
c.680T>G (p.Val227Gly)
c.15T>G
c.692T>G (p.Val231Gly)
c.406T>G
n.692T>G
n.663T>G
c.827T>G (p.Val276Gly)
c.542T>G (p.Val181Gly)
n.79A>C
c.938T>G (p.Val313Gly)
6g.10404580A>GCA362701324TFAP2A,TFAP2A-AS2c.674T>C (p.Val225Ala)
c.698T>C (p.Val233Ala)
c.*189T>C (n.*189T>C)
c.263T>C (p.Val88Ala)
c.680T>C (p.Val227Ala)
c.15T>C
c.692T>C (p.Val231Ala)
c.406T>C
n.692T>C
n.663T>C
c.827T>C (p.Val276Ala)
c.542T>C (p.Val181Ala)
n.79A>G
c.938T>C (p.Val313Ala)
 gnomAD v4
6g.10404580A>TCA362701326TFAP2A,TFAP2A-AS2c.674T>A (p.Val225Glu)
c.698T>A (p.Val233Glu)
c.*189T>A (n.*189T>A)
c.263T>A (p.Val88Glu)
c.680T>A (p.Val227Glu)
c.15T>A
c.692T>A (p.Val231Glu)
c.406T>A
n.692T>A
n.663T>A
c.827T>A (p.Val276Glu)
c.542T>A (p.Val181Glu)
n.79A>T
c.938T>A (p.Val313Glu)
6g.10404583_10404588delCA2695205973TFAP2A,TFAP2A-AS2c.669_674del (p.Thr224_Val225del)
c.693_698del (p.Thr232_Val233del)
c.*184_*189del (n.*184_*189del)
c.258_263del (p.Thr87_Val88del)
c.675_680del (p.Thr226_Val227del)
c.10_15del
c.687_692del (p.Thr230_Val231del)
c.401_406del
n.687_692del
n.658_663del
c.822_827del (p.Thr275_Val276del)
c.537_542del (p.Thr180_Val181del)
n.82_87del
c.933_938del (p.Thr312_Val313del)
6g.10404581C>ACA362701328TFAP2A,TFAP2A-AS2c.673G>T (p.Val225Leu)
c.697G>T (p.Val233Leu)
c.*188G>T (n.*188G>T)
c.262G>T (p.Val88Leu)
c.679G>T (p.Val227Leu)
c.14G>T
c.691G>T (p.Val231Leu)
c.405G>T
n.691G>T
n.662G>T
c.826G>T (p.Val276Leu)
c.541G>T (p.Val181Leu)
n.80C>A
c.937G>T (p.Val313Leu)
6g.10404581C>GCA362701329TFAP2A,TFAP2A-AS2c.673G>C (p.Val225Leu)
c.697G>C (p.Val233Leu)
c.*188G>C (n.*188G>C)
c.262G>C (p.Val88Leu)
c.679G>C (p.Val227Leu)
c.14G>C
c.691G>C (p.Val231Leu)
c.405G>C
n.691G>C
n.662G>C
c.826G>C (p.Val276Leu)
c.541G>C (p.Val181Leu)
n.80C>G
c.937G>C (p.Val313Leu)
6g.10404581C>TCA362701330TFAP2A,TFAP2A-AS2c.673G>A (p.Val225Met)
c.697G>A (p.Val233Met)
c.*188G>A (n.*188G>A)
c.262G>A (p.Val88Met)
c.679G>A (p.Val227Met)
c.14G>A
c.691G>A (p.Val231Met)
c.405G>A
n.691G>A
n.662G>A
c.826G>A (p.Val276Met)
c.541G>A (p.Val181Met)
n.80C>T
c.937G>A (p.Val313Met)
6g.10404582C>ACA448717616TFAP2A,TFAP2A-AS2c.672G>T (p.Thr224=)
c.696G>T (p.Thr232=)
c.*187G>T (n.*187G>T)
c.261G>T (p.Thr87=)
c.678G>T (p.Thr226=)
c.13G>T
c.690G>T (p.Thr230=)
c.404G>T
n.690G>T
n.661G>T
c.825G>T (p.Thr275=)
c.540G>T (p.Thr180=)
n.81C>A
c.936G>T (p.Thr312=)
 gnomAD v4
6g.10404582C=CA1609976756TFAP2A,TFAP2A-AS2c.672G= (p.Thr224=)
c.696G= (p.Thr232=)
c.*187G= (n.*187G=)
c.261G= (p.Thr87=)
c.678G= (p.Thr226=)
c.13G=
c.690G= (p.Thr230=)
c.404G=
n.690G=
n.661G=
c.825G= (p.Thr275=)
c.540G= (p.Thr180=)
n.81C=
c.936G= (p.Thr312=)
6g.10404582C>GCA448717618TFAP2A,TFAP2A-AS2c.672G>C (p.Thr224=)
c.696G>C (p.Thr232=)
c.*187G>C (n.*187G>C)
c.261G>C (p.Thr87=)
c.678G>C (p.Thr226=)
c.13G>C
c.690G>C (p.Thr230=)
c.404G>C
n.690G>C
n.661G>C
c.825G>C (p.Thr275=)
c.540G>C (p.Thr180=)
n.81C>G
c.936G>C (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404582C>TCA448717617TFAP2A,TFAP2A-AS2c.672G>A (p.Thr224=)
c.696G>A (p.Thr232=)
c.*187G>A (n.*187G>A)
c.261G>A (p.Thr87=)
c.678G>A (p.Thr226=)
c.13G>A
c.690G>A (p.Thr230=)
c.404G>A
n.690G>A
n.661G>A
c.825G>A (p.Thr275=)
c.540G>A (p.Thr180=)
n.81C>T
c.936G>A (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404583G>ACA362701336TFAP2A,TFAP2A-AS2c.671C>T (p.Thr224Met)
c.695C>T (p.Thr232Met)
c.*186C>T (n.*186C>T)
c.260C>T (p.Thr87Met)
c.677C>T (p.Thr226Met)
c.12C>T
c.689C>T (p.Thr230Met)
c.403C>T
n.689C>T
n.660C>T
c.824C>T (p.Thr275Met)
c.539C>T (p.Thr180Met)
n.82G>A
c.935C>T (p.Thr312Met)
 dbSNP
6g.10404583G>CCA362701332TFAP2A,TFAP2A-AS2c.671C>G (p.Thr224Arg)
c.695C>G (p.Thr232Arg)
c.*186C>G (n.*186C>G)
c.260C>G (p.Thr87Arg)
c.677C>G (p.Thr226Arg)
c.12C>G
c.689C>G (p.Thr230Arg)
c.403C>G
n.689C>G
n.660C>G
c.824C>G (p.Thr275Arg)
c.539C>G (p.Thr180Arg)
n.82G>C
c.935C>G (p.Thr312Arg)
6g.10404583G=CA1609976757TFAP2A,TFAP2A-AS2c.671C= (p.Thr224=)
c.695C= (p.Thr232=)
c.*186C= (n.*186C=)
c.260C= (p.Thr87=)
c.677C= (p.Thr226=)
c.12C=
c.689C= (p.Thr230=)
c.403C=
n.689C=
n.660C=
c.824C= (p.Thr275=)
c.539C= (p.Thr180=)
n.82G=
c.935C= (p.Thr312=)
6g.10404583G>TCA362701334TFAP2A,TFAP2A-AS2c.671C>A (p.Thr224Lys)
c.695C>A (p.Thr232Lys)
c.*186C>A (n.*186C>A)
c.260C>A (p.Thr87Lys)
c.677C>A (p.Thr226Lys)
c.12C>A
c.689C>A (p.Thr230Lys)
c.403C>A
n.689C>A
n.660C>A
c.824C>A (p.Thr275Lys)
c.539C>A (p.Thr180Lys)
n.82G>T
c.935C>A (p.Thr312Lys)
6g.10404584T>ACA362701338TFAP2A,TFAP2A-AS2c.670A>T (p.Thr224Ser)
c.694A>T (p.Thr232Ser)
c.*185A>T (n.*185A>T)
c.259A>T (p.Thr87Ser)
c.676A>T (p.Thr226Ser)
c.11A>T
c.688A>T (p.Thr230Ser)
c.402A>T
n.688A>T
n.659A>T
c.823A>T (p.Thr275Ser)
c.538A>T (p.Thr180Ser)
n.83T>A
c.934A>T (p.Thr312Ser)
 gnomAD v4
6g.10404584T>CCA362701340TFAP2A,TFAP2A-AS2c.670A>G (p.Thr224Ala)
c.694A>G (p.Thr232Ala)
c.*185A>G (n.*185A>G)
c.259A>G (p.Thr87Ala)
c.676A>G (p.Thr226Ala)
c.11A>G
c.688A>G (p.Thr230Ala)
c.402A>G
n.688A>G
n.659A>G
c.823A>G (p.Thr275Ala)
c.538A>G (p.Thr180Ala)
n.83T>C
c.934A>G (p.Thr312Ala)
 gnomAD v4
6g.10404584T>GCA362701342TFAP2A,TFAP2A-AS2c.670A>C (p.Thr224Pro)
c.694A>C (p.Thr232Pro)
c.*185A>C (n.*185A>C)
c.259A>C (p.Thr87Pro)
c.676A>C (p.Thr226Pro)
c.11A>C
c.688A>C (p.Thr230Pro)
c.402A>C
n.688A>C
n.659A>C
c.823A>C (p.Thr275Pro)
c.538A>C (p.Thr180Pro)
n.83T>G
c.934A>C (p.Thr312Pro)
6g.10404585G>ACA448717620TFAP2A,TFAP2A-AS2c.669C>T (p.Val223=)
c.693C>T (p.Val231=)
c.*184C>T (n.*184C>T)
c.258C>T (p.Val86=)
c.675C>T (p.Val225=)
c.10C>T
c.687C>T (p.Val229=)
c.401C>T
n.687C>T
n.658C>T
c.822C>T (p.Val274=)
c.537C>T (p.Val179=)
n.84G>A
c.933C>T (p.Val311=)
6g.10404585G>CCA3631269TFAP2A,TFAP2A-AS2c.669C>G (p.Val223=)
c.693C>G (p.Val231=)
c.*184C>G (n.*184C>G)
c.258C>G (p.Val86=)
c.675C>G (p.Val225=)
c.10C>G
c.687C>G (p.Val229=)
c.401C>G
n.687C>G
n.658C>G
c.822C>G (p.Val274=)
c.537C>G (p.Val179=)
n.84G>C
c.933C>G (p.Val311=)
 dbSNP ExAC gnomAD v4
6g.10404585G=CA1609976758TFAP2A,TFAP2A-AS2c.669C= (p.Val223=)
c.693C= (p.Val231=)
c.*184C= (n.*184C=)
c.258C= (p.Val86=)
c.675C= (p.Val225=)
c.10C=
c.687C= (p.Val229=)
c.401C=
n.687C=
n.658C=
c.822C= (p.Val274=)
c.537C= (p.Val179=)
n.84G=
c.933C= (p.Val311=)
6g.10404585G>TCA448717621TFAP2A,TFAP2A-AS2c.669C>A (p.Val223=)
c.693C>A (p.Val231=)
c.*184C>A (n.*184C>A)
c.258C>A (p.Val86=)
c.675C>A (p.Val225=)
c.10C>A
c.687C>A (p.Val229=)
c.401C>A
n.687C>A
n.658C>A
c.822C>A (p.Val274=)
c.537C>A (p.Val179=)
n.84G>T
c.933C>A (p.Val311=)
6g.10404586A>CCA362701345TFAP2A,TFAP2A-AS2c.668T>G (p.Val223Gly)
c.692T>G (p.Val231Gly)
c.*183T>G (n.*183T>G)
c.257T>G (p.Val86Gly)
c.674T>G (p.Val225Gly)
c.9T>G
c.686T>G (p.Val229Gly)
c.400T>G
n.686T>G
n.657T>G
c.821T>G (p.Val274Gly)
c.536T>G (p.Val179Gly)
n.85A>C
c.932T>G (p.Val311Gly)
6g.10404586A>GCA362701346TFAP2A,TFAP2A-AS2c.668T>C (p.Val223Ala)
c.692T>C (p.Val231Ala)
c.*183T>C (n.*183T>C)
c.257T>C (p.Val86Ala)
c.674T>C (p.Val225Ala)
c.9T>C
c.686T>C (p.Val229Ala)
c.400T>C
n.686T>C
n.657T>C
c.821T>C (p.Val274Ala)
c.536T>C (p.Val179Ala)
n.85A>G
c.932T>C (p.Val311Ala)
6g.10404586A>TCA362701348TFAP2A,TFAP2A-AS2c.668T>A (p.Val223Asp)
c.692T>A (p.Val231Asp)
c.*183T>A (n.*183T>A)
c.257T>A (p.Val86Asp)
c.674T>A (p.Val225Asp)
c.9T>A
c.686T>A (p.Val229Asp)
c.400T>A
n.686T>A
n.657T>A
c.821T>A (p.Val274Asp)
c.536T>A (p.Val179Asp)
n.85A>T
c.932T>A (p.Val311Asp)
6g.10404587C>ACA362701350TFAP2A,TFAP2A-AS2c.667G>T (p.Val223Phe)
c.691G>T (p.Val231Phe)
c.*182G>T (n.*182G>T)
c.256G>T (p.Val86Phe)
c.673G>T (p.Val225Phe)
c.8G>T
c.685G>T (p.Val229Phe)
c.399G>T
n.685G>T
n.656G>T
c.820G>T (p.Val274Phe)
c.535G>T (p.Val179Phe)
n.86C>A
c.931G>T (p.Val311Phe)
6g.10404587C=CA1609976759TFAP2A,TFAP2A-AS2c.667G= (p.Val223=)
c.691G= (p.Val231=)
c.*182G= (n.*182G=)
c.256G= (p.Val86=)
c.673G= (p.Val225=)
c.8G=
c.685G= (p.Val229=)
c.399G=
n.685G=
n.656G=
c.820G= (p.Val274=)
c.535G= (p.Val179=)
n.86C=
c.931G= (p.Val311=)
6g.10404587C>GCA362701352TFAP2A,TFAP2A-AS2c.667G>C (p.Val223Leu)
c.691G>C (p.Val231Leu)
c.*182G>C (n.*182G>C)
c.256G>C (p.Val86Leu)
c.673G>C (p.Val225Leu)
c.8G>C
c.685G>C (p.Val229Leu)
c.399G>C
n.685G>C
n.656G>C
c.820G>C (p.Val274Leu)
c.535G>C (p.Val179Leu)
n.86C>G
c.931G>C (p.Val311Leu)
6g.10404587C>TCA3631270TFAP2A,TFAP2A-AS2c.667G>A (p.Val223Ile)
c.691G>A (p.Val231Ile)
c.*182G>A (n.*182G>A)
c.256G>A (p.Val86Ile)
c.673G>A (p.Val225Ile)
c.8G>A
c.685G>A (p.Val229Ile)
c.399G>A
n.685G>A
n.656G>A
c.820G>A (p.Val274Ile)
c.535G>A (p.Val179Ile)
n.86C>T
c.931G>A (p.Val311Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404588C>ACA362701355TFAP2A,TFAP2A-AS2c.666G>T (p.Lys222Asn)
c.690G>T (p.Lys230Asn)
c.*181G>T (n.*181G>T)
c.255G>T (p.Lys85Asn)
c.672G>T (p.Lys224Asn)
c.7G>T
c.684G>T (p.Lys228Asn)
c.398G>T
n.684G>T
n.655G>T
c.819G>T (p.Lys273Asn)
c.534G>T (p.Lys178Asn)
n.87C>A
c.930G>T (p.Lys310Asn)
6g.10404588C=CA1609976760TFAP2A,TFAP2A-AS2c.666G= (p.Lys222=)
c.690G= (p.Lys230=)
c.*181G= (n.*181G=)
c.255G= (p.Lys85=)
c.672G= (p.Lys224=)
c.7G=
c.684G= (p.Lys228=)
c.398G=
n.684G=
n.655G=
c.819G= (p.Lys273=)
c.534G= (p.Lys178=)
n.87C=
c.930G= (p.Lys310=)
6g.10404588C>GCA362701357TFAP2A,TFAP2A-AS2c.666G>C (p.Lys222Asn)
c.690G>C (p.Lys230Asn)
c.*181G>C (n.*181G>C)
c.255G>C (p.Lys85Asn)
c.672G>C (p.Lys224Asn)
c.7G>C
c.684G>C (p.Lys228Asn)
c.398G>C
n.684G>C
n.655G>C
c.819G>C (p.Lys273Asn)
c.534G>C (p.Lys178Asn)
n.87C>G
c.930G>C (p.Lys310Asn)
 dbSNP
6g.10404588C>TCA448717622TFAP2A,TFAP2A-AS2c.666G>A (p.Lys222=)
c.690G>A (p.Lys230=)
c.*181G>A (n.*181G>A)
c.255G>A (p.Lys85=)
c.672G>A (p.Lys224=)
c.7G>A
c.684G>A (p.Lys228=)
c.398G>A
n.684G>A
n.655G>A
c.819G>A (p.Lys273=)
c.534G>A (p.Lys178=)
n.87C>T
c.930G>A (p.Lys310=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404589T>ACA362701361TFAP2A,TFAP2A-AS2c.665A>T (p.Lys222Met)
c.689A>T (p.Lys230Met)
c.*180A>T (n.*180A>T)
c.254A>T (p.Lys85Met)
c.671A>T (p.Lys224Met)
c.6A>T
c.683A>T (p.Lys228Met)
c.397A>T
n.683A>T
n.654A>T
c.818A>T (p.Lys273Met)
c.533A>T (p.Lys178Met)
n.88T>A
c.929A>T (p.Lys310Met)
6g.10404589T>CCA362701362TFAP2A,TFAP2A-AS2c.665A>G (p.Lys222Arg)
c.689A>G (p.Lys230Arg)
c.*180A>G (n.*180A>G)
c.254A>G (p.Lys85Arg)
c.671A>G (p.Lys224Arg)
c.6A>G
c.683A>G (p.Lys228Arg)
c.397A>G
n.683A>G
n.654A>G
c.818A>G (p.Lys273Arg)
c.533A>G (p.Lys178Arg)
n.88T>C
c.929A>G (p.Lys310Arg)
 ClinVar gnomAD v4
6g.10404589T>GCA362701359TFAP2A,TFAP2A-AS2c.665A>C (p.Lys222Thr)
c.689A>C (p.Lys230Thr)
c.*180A>C (n.*180A>C)
c.254A>C (p.Lys85Thr)
c.671A>C (p.Lys224Thr)
c.6A>C
c.683A>C (p.Lys228Thr)
c.397A>C
n.683A>C
n.654A>C
c.818A>C (p.Lys273Thr)
c.533A>C (p.Lys178Thr)
n.88T>G
c.929A>C (p.Lys310Thr)
 gnomAD v4
6g.10404590T>ACA362701364TFAP2A,TFAP2A-AS2c.664A>T (p.Lys222Ter)
c.688A>T (p.Lys230Ter)
c.*179A>T (n.*179A>T)
c.253A>T (p.Lys85Ter)
c.670A>T (p.Lys224Ter)
c.5A>T
c.682A>T (p.Lys228Ter)
c.396A>T
n.682A>T
n.653A>T
c.817A>T (p.Lys273Ter)
c.532A>T (p.Lys178Ter)
n.89T>A
c.928A>T (p.Lys310Ter)
6g.10404590T>CCA362701368TFAP2A,TFAP2A-AS2c.664A>G (p.Lys222Glu)
c.688A>G (p.Lys230Glu)
c.*179A>G (n.*179A>G)
c.253A>G (p.Lys85Glu)
c.670A>G (p.Lys224Glu)
c.5A>G
c.682A>G (p.Lys228Glu)
c.396A>G
n.682A>G
n.653A>G
c.817A>G (p.Lys273Glu)
c.532A>G (p.Lys178Glu)
n.89T>C
c.928A>G (p.Lys310Glu)
6g.10404590T>GCA362701366TFAP2A,TFAP2A-AS2c.664A>C (p.Lys222Gln)
c.688A>C (p.Lys230Gln)
c.*179A>C (n.*179A>C)
c.253A>C (p.Lys85Gln)
c.670A>C (p.Lys224Gln)
c.5A>C
c.682A>C (p.Lys228Gln)
c.396A>C
n.682A>C
n.653A>C
c.817A>C (p.Lys273Gln)
c.532A>C (p.Lys178Gln)
n.89T>G
c.928A>C (p.Lys310Gln)
6g.10404591G>ACA448717623TFAP2A,TFAP2A-AS2c.663C>T (p.Tyr221=)
c.687C>T (p.Tyr229=)
c.*178C>T (n.*178C>T)
c.252C>T (p.Tyr84=)
c.669C>T (p.Tyr223=)
c.4C>T
c.681C>T (p.Tyr227=)
c.395C>T
n.681C>T
n.652C>T
c.816C>T (p.Tyr272=)
c.531C>T (p.Tyr177=)
n.90G>A
c.927C>T (p.Tyr309=)
6g.10404591G>CCA362701370TFAP2A,TFAP2A-AS2c.663C>G (p.Tyr221Ter)
c.687C>G (p.Tyr229Ter)
c.*178C>G (n.*178C>G)
c.252C>G (p.Tyr84Ter)
c.669C>G (p.Tyr223Ter)
c.4C>G
c.681C>G (p.Tyr227Ter)
c.395C>G
n.681C>G
n.652C>G
c.816C>G (p.Tyr272Ter)
c.531C>G (p.Tyr177Ter)
n.90G>C
c.927C>G (p.Tyr309Ter)
 ClinVar dbSNP
6g.10404591G>TCA362701372TFAP2A,TFAP2A-AS2c.663C>A (p.Tyr221Ter)
c.687C>A (p.Tyr229Ter)
c.*178C>A (n.*178C>A)
c.252C>A (p.Tyr84Ter)
c.669C>A (p.Tyr223Ter)
c.4C>A
c.681C>A (p.Tyr227Ter)
c.395C>A
n.681C>A
n.652C>A
c.816C>A (p.Tyr272Ter)
c.531C>A (p.Tyr177Ter)
n.90G>T
c.927C>A (p.Tyr309Ter)
6g.10404592T>ACA362701374TFAP2A,TFAP2A-AS2c.662A>T (p.Tyr221Phe)
c.686A>T (p.Tyr229Phe)
c.*177A>T (n.*177A>T)
c.251A>T (p.Tyr84Phe)
c.668A>T (p.Tyr223Phe)
c.3A>T
c.680A>T (p.Tyr227Phe)
c.394A>T
n.680A>T
n.651A>T
c.815A>T (p.Tyr272Phe)
c.530A>T (p.Tyr177Phe)
n.91T>A
c.926A>T (p.Tyr309Phe)
6g.10404592T>CCA362701376TFAP2A,TFAP2A-AS2c.662A>G (p.Tyr221Cys)
c.686A>G (p.Tyr229Cys)
c.*177A>G (n.*177A>G)
c.251A>G (p.Tyr84Cys)
c.668A>G (p.Tyr223Cys)
c.3A>G
c.680A>G (p.Tyr227Cys)
c.394A>G
n.680A>G
n.651A>G
c.815A>G (p.Tyr272Cys)
c.530A>G (p.Tyr177Cys)
n.91T>C
c.926A>G (p.Tyr309Cys)
6g.10404592T>GCA362701377TFAP2A,TFAP2A-AS2c.662A>C (p.Tyr221Ser)
c.686A>C (p.Tyr229Ser)
c.*177A>C (n.*177A>C)
c.251A>C (p.Tyr84Ser)
c.668A>C (p.Tyr223Ser)
c.3A>C
c.680A>C (p.Tyr227Ser)
c.394A>C
n.680A>C
n.651A>C
c.815A>C (p.Tyr272Ser)
c.530A>C (p.Tyr177Ser)
n.91T>G
c.926A>C (p.Tyr309Ser)
6g.10404593A>CCA362701379TFAP2A,TFAP2A-AS2c.661T>G (p.Tyr221Asp)
c.685T>G (p.Tyr229Asp)
c.*176T>G (n.*176T>G)
c.250T>G (p.Tyr84Asp)
c.667T>G (p.Tyr223Asp)
c.2T>G
c.679T>G (p.Tyr227Asp)
c.393T>G
n.679T>G
n.650T>G
c.814T>G (p.Tyr272Asp)
c.529T>G (p.Tyr177Asp)
n.92A>C
c.925T>G (p.Tyr309Asp)
6g.10404593A>GCA362701381TFAP2A,TFAP2A-AS2c.661T>C (p.Tyr221His)
c.685T>C (p.Tyr229His)
c.*176T>C (n.*176T>C)
c.250T>C (p.Tyr84His)
c.667T>C (p.Tyr223His)
c.2T>C
c.679T>C (p.Tyr227His)
c.393T>C
n.679T>C
n.650T>C
c.814T>C (p.Tyr272His)
c.529T>C (p.Tyr177His)
n.92A>G
c.925T>C (p.Tyr309His)
6g.10404593A>TCA362701383TFAP2A,TFAP2A-AS2c.661T>A (p.Tyr221Asn)
c.685T>A (p.Tyr229Asn)
c.*176T>A (n.*176T>A)
c.250T>A (p.Tyr84Asn)
c.667T>A (p.Tyr223Asn)
c.2T>A
c.679T>A (p.Tyr227Asn)
c.393T>A
n.679T>A
n.650T>A
c.814T>A (p.Tyr272Asn)
c.529T>A (p.Tyr177Asn)
n.92A>T
c.925T>A (p.Tyr309Asn)
6g.10404594C>ACA362701385TFAP2A,TFAP2A-AS2c.660G>T (p.Lys220Asn)
c.684G>T (p.Lys228Asn)
c.*175G>T (n.*175G>T)
c.249G>T (p.Lys83Asn)
c.666G>T (p.Lys222Asn)
c.1G>T
c.678G>T (p.Lys226Asn)
c.392G>T
n.678G>T
n.649G>T
c.813G>T (p.Lys271Asn)
c.528G>T (p.Lys176Asn)
n.93C>A
c.924G>T (p.Lys308Asn)
6g.10404594C=CA1609976761TFAP2A,TFAP2A-AS2c.660G= (p.Lys220=)
c.684G= (p.Lys228=)
c.*175G= (n.*175G=)
c.249G= (p.Lys83=)
c.666G= (p.Lys222=)
c.1G=
c.678G= (p.Lys226=)
c.392G=
n.678G=
n.649G=
c.813G= (p.Lys271=)
c.528G= (p.Lys176=)
n.93C=
c.924G= (p.Lys308=)
6g.10404594C>GCA362701387TFAP2A,TFAP2A-AS2c.660G>C (p.Lys220Asn)
c.684G>C (p.Lys228Asn)
c.*175G>C (n.*175G>C)
c.249G>C (p.Lys83Asn)
c.666G>C (p.Lys222Asn)
c.1G>C
c.678G>C (p.Lys226Asn)
c.392G>C
n.678G>C
n.649G>C
c.813G>C (p.Lys271Asn)
c.528G>C (p.Lys176Asn)
n.93C>G
c.924G>C (p.Lys308Asn)
6g.10404594C>TCA134049110TFAP2A,TFAP2A-AS2c.660G>A (p.Lys220=)
c.684G>A (p.Lys228=)
c.*175G>A (n.*175G>A)
c.249G>A (p.Lys83=)
c.666G>A (p.Lys222=)
c.1G>A
c.678G>A (p.Lys226=)
c.392G>A
n.678G>A
n.649G>A
c.813G>A (p.Lys271=)
c.528G>A (p.Lys176=)
n.93C>T
c.924G>A (p.Lys308=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404595T>ACA362701389TFAP2A,TFAP2A-AS2c.659A>T (p.Lys220Met)
c.683A>T (p.Lys228Met)
c.*174A>T (n.*174A>T)
c.248A>T (p.Lys83Met)
c.665A>T (p.Lys222Met)
c.677A>T (p.Lys226Met)
c.391A>T
n.677A>T
n.648A>T
c.812A>T (p.Lys271Met)
c.527A>T (p.Lys176Met)
n.94T>A
c.923A>T (p.Lys308Met)
6g.10404595T>CCA362701391TFAP2A,TFAP2A-AS2c.659A>G (p.Lys220Arg)
c.683A>G (p.Lys228Arg)
c.*174A>G (n.*174A>G)
c.248A>G (p.Lys83Arg)
c.665A>G (p.Lys222Arg)
c.677A>G (p.Lys226Arg)
c.391A>G
n.677A>G
n.648A>G
c.812A>G (p.Lys271Arg)
c.527A>G (p.Lys176Arg)
n.94T>C
c.923A>G (p.Lys308Arg)
6g.10404595T>GCA362701392TFAP2A,TFAP2A-AS2c.659A>C (p.Lys220Thr)
c.683A>C (p.Lys228Thr)
c.*174A>C (n.*174A>C)
c.248A>C (p.Lys83Thr)
c.665A>C (p.Lys222Thr)
c.677A>C (p.Lys226Thr)
c.391A>C
n.677A>C
n.648A>C
c.812A>C (p.Lys271Thr)
c.527A>C (p.Lys176Thr)
n.94T>G
c.923A>C (p.Lys308Thr)
6g.10404596T>ACA362701394TFAP2A,TFAP2A-AS2c.658A>T (p.Lys220Ter)
c.682A>T (p.Lys228Ter)
c.*173A>T (n.*173A>T)
c.247A>T (p.Lys83Ter)
c.664A>T (p.Lys222Ter)
c.676A>T (p.Lys226Ter)
c.390A>T
n.676A>T
n.647A>T
c.811A>T (p.Lys271Ter)
c.526A>T (p.Lys176Ter)
n.95T>A
c.922A>T (p.Lys308Ter)
6g.10404596T>CCA362701398TFAP2A,TFAP2A-AS2c.658A>G (p.Lys220Glu)
c.682A>G (p.Lys228Glu)
c.*173A>G (n.*173A>G)
c.247A>G (p.Lys83Glu)
c.664A>G (p.Lys222Glu)
c.676A>G (p.Lys226Glu)
c.390A>G
n.676A>G
n.647A>G
c.811A>G (p.Lys271Glu)
c.526A>G (p.Lys176Glu)
n.95T>C
c.922A>G (p.Lys308Glu)
6g.10404596T>GCA362701396TFAP2A,TFAP2A-AS2c.658A>C (p.Lys220Gln)
c.682A>C (p.Lys228Gln)
c.*173A>C (n.*173A>C)
c.247A>C (p.Lys83Gln)
c.664A>C (p.Lys222Gln)
c.676A>C (p.Lys226Gln)
c.390A>C
n.676A>C
n.647A>C
c.811A>C (p.Lys271Gln)
c.526A>C (p.Lys176Gln)
n.95T>G
c.922A>C (p.Lys308Gln)
6g.10404597C>ACA448717626TFAP2A,TFAP2A-AS2c.657G>T (p.Ser219=)
c.681G>T (p.Ser227=)
c.*172G>T (n.*172G>T)
c.246G>T (p.Ser82=)
c.663G>T (p.Ser221=)
c.675G>T (p.Ser225=)
c.389G>T
n.675G>T
n.646G>T
c.810G>T (p.Ser270=)
c.525G>T (p.Ser175=)
n.96C>A
c.921G>T (p.Ser307=)
6g.10404597C=CA1609976762TFAP2A,TFAP2A-AS2c.657G= (p.Ser219=)
c.681G= (p.Ser227=)
c.*172G= (n.*172G=)
c.246G= (p.Ser82=)
c.663G= (p.Ser221=)
c.675G= (p.Ser225=)
c.389G=
n.675G=
n.646G=
c.810G= (p.Ser270=)
c.525G= (p.Ser175=)
n.96C=
c.921G= (p.Ser307=)
6g.10404597C>GCA448717628TFAP2A,TFAP2A-AS2c.657G>C (p.Ser219=)
c.681G>C (p.Ser227=)
c.*172G>C (n.*172G>C)
c.246G>C (p.Ser82=)
c.663G>C (p.Ser221=)
c.675G>C (p.Ser225=)
c.389G>C
n.675G>C
n.646G>C
c.810G>C (p.Ser270=)
c.525G>C (p.Ser175=)
n.96C>G
c.921G>C (p.Ser307=)
6g.10404597C>TCA3631271TFAP2A,TFAP2A-AS2c.657G>A (p.Ser219=)
c.681G>A (p.Ser227=)
c.*172G>A (n.*172G>A)
c.246G>A (p.Ser82=)
c.663G>A (p.Ser221=)
c.675G>A (p.Ser225=)
c.389G>A
n.675G>A
n.646G>A
c.810G>A (p.Ser270=)
c.525G>A (p.Ser175=)
n.96C>T
c.921G>A (p.Ser307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404598G>ACA362701401TFAP2A,TFAP2A-AS2c.656C>T (p.Ser219Leu)
c.680C>T (p.Ser227Leu)
c.*171C>T (n.*171C>T)
c.245C>T (p.Ser82Leu)
c.662C>T (p.Ser221Leu)
c.674C>T (p.Ser225Leu)
c.388C>T
n.674C>T
n.645C>T
c.809C>T (p.Ser270Leu)
c.524C>T (p.Ser175Leu)
n.97G>A
c.920C>T (p.Ser307Leu)
6g.10404598G>CCA362701403TFAP2A,TFAP2A-AS2c.656C>G (p.Ser219Trp)
c.680C>G (p.Ser227Trp)
c.*171C>G (n.*171C>G)
c.245C>G (p.Ser82Trp)
c.662C>G (p.Ser221Trp)
c.674C>G (p.Ser225Trp)
c.388C>G
n.674C>G
n.645C>G
c.809C>G (p.Ser270Trp)
c.524C>G (p.Ser175Trp)
n.97G>C
c.920C>G (p.Ser307Trp)
6g.10404598G>TCA362701404TFAP2A,TFAP2A-AS2c.656C>A (p.Ser219Ter)
c.680C>A (p.Ser227Ter)
c.*171C>A (n.*171C>A)
c.245C>A (p.Ser82Ter)
c.662C>A (p.Ser221Ter)
c.674C>A (p.Ser225Ter)
c.388C>A
n.674C>A
n.645C>A
c.809C>A (p.Ser270Ter)
c.524C>A (p.Ser175Ter)
n.97G>T
c.920C>A (p.Ser307Ter)
 ClinVar
6g.10404599A=CA1609976763TFAP2A,TFAP2A-AS2c.655T= (p.Ser219=)
c.679T= (p.Ser227=)
c.*170T= (n.*170T=)
c.244T= (p.Ser82=)
c.661T= (p.Ser221=)
c.673T= (p.Ser225=)
c.387T=
n.673T=
n.644T=
c.808T= (p.Ser270=)
c.523T= (p.Ser175=)
n.98A=
c.919T= (p.Ser307=)
6g.10404599A>CCA362701407TFAP2A,TFAP2A-AS2c.655T>G (p.Ser219Ala)
c.679T>G (p.Ser227Ala)
c.*170T>G (n.*170T>G)
c.244T>G (p.Ser82Ala)
c.661T>G (p.Ser221Ala)
c.673T>G (p.Ser225Ala)
c.387T>G
n.673T>G
n.644T>G
c.808T>G (p.Ser270Ala)
c.523T>G (p.Ser175Ala)
n.98A>C
c.919T>G (p.Ser307Ala)
6g.10404599A>GCA3631272TFAP2A,TFAP2A-AS2c.655T>C (p.Ser219Pro)
c.679T>C (p.Ser227Pro)
c.*170T>C (n.*170T>C)
c.244T>C (p.Ser82Pro)
c.661T>C (p.Ser221Pro)
c.673T>C (p.Ser225Pro)
c.387T>C
n.673T>C
n.644T>C
c.808T>C (p.Ser270Pro)
c.523T>C (p.Ser175Pro)
n.98A>G
c.919T>C (p.Ser307Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404599A>TCA362701409TFAP2A,TFAP2A-AS2c.655T>A (p.Ser219Thr)
c.679T>A (p.Ser227Thr)
c.*170T>A (n.*170T>A)
c.244T>A (p.Ser82Thr)
c.661T>A (p.Ser221Thr)
c.673T>A (p.Ser225Thr)
c.387T>A
n.673T>A
n.644T>A
c.808T>A (p.Ser270Thr)
c.523T>A (p.Ser175Thr)
n.98A>T
c.919T>A (p.Ser307Thr)
6g.10404600G>ACA448717630TFAP2A,TFAP2A-AS2c.654C>T (p.Thr218=)
c.678C>T (p.Thr226=)
c.*169C>T (n.*169C>T)
c.243C>T (p.Thr81=)
c.660C>T (p.Thr220=)
c.672C>T (p.Thr224=)
c.386C>T
n.672C>T
n.643C>T
c.807C>T (p.Thr269=)
c.522C>T (p.Thr174=)
n.99G>A
c.918C>T (p.Thr306=)
6g.10404600G>CCA448717631TFAP2A,TFAP2A-AS2c.654C>G (p.Thr218=)
c.678C>G (p.Thr226=)
c.*169C>G (n.*169C>G)
c.243C>G (p.Thr81=)
c.660C>G (p.Thr220=)
c.672C>G (p.Thr224=)
c.386C>G
n.672C>G
n.643C>G
c.807C>G (p.Thr269=)
c.522C>G (p.Thr174=)
n.99G>C
c.918C>G (p.Thr306=)
 ClinVar gnomAD v4
6g.10404600G>TCA448717632TFAP2A,TFAP2A-AS2c.654C>A (p.Thr218=)
c.678C>A (p.Thr226=)
c.*169C>A (n.*169C>A)
c.243C>A (p.Thr81=)
c.660C>A (p.Thr220=)
c.672C>A (p.Thr224=)
c.386C>A
n.672C>A
n.643C>A
c.807C>A (p.Thr269=)
c.522C>A (p.Thr174=)
n.99G>T
c.918C>A (p.Thr306=)
6g.10404601G>ACA362701411TFAP2A,TFAP2A-AS2c.653C>T (p.Thr218Ile)
c.677C>T (p.Thr226Ile)
c.*168C>T (n.*168C>T)
c.242C>T (p.Thr81Ile)
c.659C>T (p.Thr220Ile)
c.671C>T (p.Thr224Ile)
c.385C>T
n.671C>T
n.642C>T
c.806C>T (p.Thr269Ile)
c.521C>T (p.Thr174Ile)
n.100G>A
c.917C>T (p.Thr306Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404601G>CCA362701413TFAP2A,TFAP2A-AS2c.653C>G (p.Thr218Ser)
c.677C>G (p.Thr226Ser)
c.*168C>G (n.*168C>G)
c.242C>G (p.Thr81Ser)
c.659C>G (p.Thr220Ser)
c.671C>G (p.Thr224Ser)
c.385C>G
n.671C>G
n.642C>G
c.806C>G (p.Thr269Ser)
c.521C>G (p.Thr174Ser)
n.100G>C
c.917C>G (p.Thr306Ser)
6g.10404601G=CA1609976764TFAP2A,TFAP2A-AS2c.653C= (p.Thr218=)
c.677C= (p.Thr226=)
c.*168C= (n.*168C=)
c.242C= (p.Thr81=)
c.659C= (p.Thr220=)
c.671C= (p.Thr224=)
c.385C=
n.671C=
n.642C=
c.806C= (p.Thr269=)
c.521C= (p.Thr174=)
n.100G=
c.917C= (p.Thr306=)
6g.10404601G>TCA362701415TFAP2A,TFAP2A-AS2c.653C>A (p.Thr218Asn)
c.677C>A (p.Thr226Asn)
c.*168C>A (n.*168C>A)
c.242C>A (p.Thr81Asn)
c.659C>A (p.Thr220Asn)
c.671C>A (p.Thr224Asn)
c.385C>A
n.671C>A
n.642C>A
c.806C>A (p.Thr269Asn)
c.521C>A (p.Thr174Asn)
n.100G>T
c.917C>A (p.Thr306Asn)
6g.10404602T>ACA362701420TFAP2A,TFAP2A-AS2c.652A>T (p.Thr218Ser)
c.676A>T (p.Thr226Ser)
c.*167A>T (n.*167A>T)
c.241A>T (p.Thr81Ser)
c.658A>T (p.Thr220Ser)
c.670A>T (p.Thr224Ser)
c.384A>T
n.670A>T
n.641A>T
c.805A>T (p.Thr269Ser)
c.520A>T (p.Thr174Ser)
n.101T>A
c.916A>T (p.Thr306Ser)
6g.10404602T>CCA362701418TFAP2A,TFAP2A-AS2c.652A>G (p.Thr218Ala)
c.676A>G (p.Thr226Ala)
c.*167A>G (n.*167A>G)
c.241A>G (p.Thr81Ala)
c.658A>G (p.Thr220Ala)
c.670A>G (p.Thr224Ala)
c.384A>G
n.670A>G
n.641A>G
c.805A>G (p.Thr269Ala)
c.520A>G (p.Thr174Ala)
n.101T>C
c.916A>G (p.Thr306Ala)
 gnomAD v4
6g.10404602T>GCA362701417TFAP2A,TFAP2A-AS2c.652A>C (p.Thr218Pro)
c.676A>C (p.Thr226Pro)
c.*167A>C (n.*167A>C)
c.241A>C (p.Thr81Pro)
c.658A>C (p.Thr220Pro)
c.670A>C (p.Thr224Pro)
c.384A>C
n.670A>C
n.641A>C
c.805A>C (p.Thr269Pro)
c.520A>C (p.Thr174Pro)
n.101T>G
c.916A>C (p.Thr306Pro)
6g.10404603G>ACA448717637TFAP2A,TFAP2A-AS2c.651C>T (p.Ser217=)
c.675C>T (p.Ser225=)
c.*166C>T (n.*166C>T)
c.240C>T (p.Ser80=)
c.657C>T (p.Ser219=)
c.669C>T (p.Ser223=)
c.383C>T
n.669C>T
n.640C>T
c.804C>T (p.Ser268=)
c.519C>T (p.Ser173=)
n.102G>A
c.915C>T (p.Ser305=)
 dbSNP gnomAD v4
6g.10404603G>CCA448717638TFAP2A,TFAP2A-AS2c.651C>G (p.Ser217=)
c.675C>G (p.Ser225=)
c.*166C>G (n.*166C>G)
c.240C>G (p.Ser80=)
c.657C>G (p.Ser219=)
c.669C>G (p.Ser223=)
c.383C>G
n.669C>G
n.640C>G
c.804C>G (p.Ser268=)
c.519C>G (p.Ser173=)
n.102G>C
c.915C>G (p.Ser305=)
6g.10404603G=CA1609976765TFAP2A,TFAP2A-AS2c.651C= (p.Ser217=)
c.675C= (p.Ser225=)
c.*166C= (n.*166C=)
c.240C= (p.Ser80=)
c.657C= (p.Ser219=)
c.669C= (p.Ser223=)
c.383C=
n.669C=
n.640C=
c.804C= (p.Ser268=)
c.519C= (p.Ser173=)
n.102G=
c.915C= (p.Ser305=)
6g.10404603G>TCA448717639TFAP2A,TFAP2A-AS2c.651C>A (p.Ser217=)
c.675C>A (p.Ser225=)
c.*166C>A (n.*166C>A)
c.240C>A (p.Ser80=)
c.657C>A (p.Ser219=)
c.669C>A (p.Ser223=)
c.383C>A
n.669C>A
n.640C>A
c.804C>A (p.Ser268=)
c.519C>A (p.Ser173=)
n.102G>T
c.915C>A (p.Ser305=)
6g.10404604G>ACA362701425TFAP2A,TFAP2A-AS2c.650C>T (p.Ser217Phe)
c.674C>T (p.Ser225Phe)
c.*165C>T (n.*165C>T)
c.239C>T (p.Ser80Phe)
c.656C>T (p.Ser219Phe)
c.668C>T (p.Ser223Phe)
c.382C>T
n.668C>T
n.639C>T
c.803C>T (p.Ser268Phe)
c.518C>T (p.Ser173Phe)
n.103G>A
c.914C>T (p.Ser305Phe)
6g.10404604G>CCA362701422TFAP2A,TFAP2A-AS2c.650C>G (p.Ser217Cys)
c.674C>G (p.Ser225Cys)
c.*165C>G (n.*165C>G)
c.239C>G (p.Ser80Cys)
c.656C>G (p.Ser219Cys)
c.668C>G (p.Ser223Cys)
c.382C>G
n.668C>G
n.639C>G
c.803C>G (p.Ser268Cys)
c.518C>G (p.Ser173Cys)
n.103G>C
c.914C>G (p.Ser305Cys)
6g.10404604G>TCA362701424TFAP2A,TFAP2A-AS2c.650C>A (p.Ser217Tyr)
c.674C>A (p.Ser225Tyr)
c.*165C>A (n.*165C>A)
c.239C>A (p.Ser80Tyr)
c.656C>A (p.Ser219Tyr)
c.668C>A (p.Ser223Tyr)
c.382C>A
n.668C>A
n.639C>A
c.803C>A (p.Ser268Tyr)
c.518C>A (p.Ser173Tyr)
n.103G>T
c.914C>A (p.Ser305Tyr)
6g.10404605A>CCA362701427TFAP2A,TFAP2A-AS2c.649T>G (p.Ser217Ala)
c.673T>G (p.Ser225Ala)
c.*164T>G (n.*164T>G)
c.238T>G (p.Ser80Ala)
c.655T>G (p.Ser219Ala)
c.667T>G (p.Ser223Ala)
c.381T>G
n.667T>G
n.638T>G
c.802T>G (p.Ser268Ala)
c.517T>G (p.Ser173Ala)
n.104A>C
c.913T>G (p.Ser305Ala)
 gnomAD v4
6g.10404605A>GCA362701429TFAP2A,TFAP2A-AS2c.649T>C (p.Ser217Pro)
c.673T>C (p.Ser225Pro)
c.*164T>C (n.*164T>C)
c.238T>C (p.Ser80Pro)
c.655T>C (p.Ser219Pro)
c.667T>C (p.Ser223Pro)
c.381T>C
n.667T>C
n.638T>C
c.802T>C (p.Ser268Pro)
c.517T>C (p.Ser173Pro)
n.104A>G
c.913T>C (p.Ser305Pro)
6g.10404605A>TCA362701431TFAP2A,TFAP2A-AS2c.649T>A (p.Ser217Thr)
c.673T>A (p.Ser225Thr)
c.*164T>A (n.*164T>A)
c.238T>A (p.Ser80Thr)
c.655T>A (p.Ser219Thr)
c.667T>A (p.Ser223Thr)
c.381T>A
n.667T>A
n.638T>A
c.802T>A (p.Ser268Thr)
c.517T>A (p.Ser173Thr)
n.104A>T
c.913T>A (p.Ser305Thr)
6g.10404606G>ACA448717643TFAP2A,TFAP2A-AS2c.648C>T (p.Ser216=)
c.672C>T (p.Ser224=)
c.*163C>T (n.*163C>T)
c.237C>T (p.Ser79=)
c.654C>T (p.Ser218=)
c.666C>T (p.Ser222=)
c.380C>T
n.666C>T
n.637C>T
c.801C>T (p.Ser267=)
c.516C>T (p.Ser172=)
n.105G>A
c.912C>T (p.Ser304=)
6g.10404606G>CCA362701433TFAP2A,TFAP2A-AS2c.648C>G (p.Ser216Arg)
c.672C>G (p.Ser224Arg)
c.*163C>G (n.*163C>G)
c.237C>G (p.Ser79Arg)
c.654C>G (p.Ser218Arg)
c.666C>G (p.Ser222Arg)
c.380C>G
n.666C>G
n.637C>G
c.801C>G (p.Ser267Arg)
c.516C>G (p.Ser172Arg)
n.105G>C
c.912C>G (p.Ser304Arg)
6g.10404606G>TCA362701434TFAP2A,TFAP2A-AS2c.648C>A (p.Ser216Arg)
c.672C>A (p.Ser224Arg)
c.*163C>A (n.*163C>A)
c.237C>A (p.Ser79Arg)
c.654C>A (p.Ser218Arg)
c.666C>A (p.Ser222Arg)
c.380C>A
n.666C>A
n.637C>A
c.801C>A (p.Ser267Arg)
c.516C>A (p.Ser172Arg)
n.105G>T
c.912C>A (p.Ser304Arg)
6g.10404607C>ACA362701436TFAP2A,TFAP2A-AS2c.647G>T (p.Ser216Ile)
c.671G>T (p.Ser224Ile)
c.*162G>T (n.*162G>T)
c.236G>T (p.Ser79Ile)
c.653G>T (p.Ser218Ile)
c.665G>T (p.Ser222Ile)
c.379G>T
n.665G>T
n.636G>T
c.800G>T (p.Ser267Ile)
c.515G>T (p.Ser172Ile)
n.106C>A
c.911G>T (p.Ser304Ile)
6g.10404607C>GCA362701438TFAP2A,TFAP2A-AS2c.647G>C (p.Ser216Thr)
c.671G>C (p.Ser224Thr)
c.*162G>C (n.*162G>C)
c.236G>C (p.Ser79Thr)
c.653G>C (p.Ser218Thr)
c.665G>C (p.Ser222Thr)
c.379G>C
n.665G>C
n.636G>C
c.800G>C (p.Ser267Thr)
c.515G>C (p.Ser172Thr)
n.106C>G
c.911G>C (p.Ser304Thr)
6g.10404607C>TCA362701440TFAP2A,TFAP2A-AS2c.647G>A (p.Ser216Asn)
c.671G>A (p.Ser224Asn)
c.*162G>A (n.*162G>A)
c.236G>A (p.Ser79Asn)
c.653G>A (p.Ser218Asn)
c.665G>A (p.Ser222Asn)
c.379G>A
n.665G>A
n.636G>A
c.800G>A (p.Ser267Asn)
c.515G>A (p.Ser172Asn)
n.106C>T
c.911G>A (p.Ser304Asn)
6g.10404608T>ACA362701442TFAP2A,TFAP2A-AS2c.646A>T (p.Ser216Cys)
c.670A>T (p.Ser224Cys)
c.*161A>T (n.*161A>T)
c.235A>T (p.Ser79Cys)
c.652A>T (p.Ser218Cys)
c.664A>T (p.Ser222Cys)
c.378A>T
n.664A>T
n.635A>T
c.799A>T (p.Ser267Cys)
c.514A>T (p.Ser172Cys)
n.107T>A
c.910A>T (p.Ser304Cys)
6g.10404608T>CCA362701444TFAP2A,TFAP2A-AS2c.646A>G (p.Ser216Gly)
c.670A>G (p.Ser224Gly)
c.*161A>G (n.*161A>G)
c.235A>G (p.Ser79Gly)
c.652A>G (p.Ser218Gly)
c.664A>G (p.Ser222Gly)
c.378A>G
n.664A>G
n.635A>G
c.799A>G (p.Ser267Gly)
c.514A>G (p.Ser172Gly)
n.107T>C
c.910A>G (p.Ser304Gly)
6g.10404608T>GCA362701446TFAP2A,TFAP2A-AS2c.646A>C (p.Ser216Arg)
c.670A>C (p.Ser224Arg)
c.*161A>C (n.*161A>C)
c.235A>C (p.Ser79Arg)
c.652A>C (p.Ser218Arg)
c.664A>C (p.Ser222Arg)
c.378A>C
n.664A>C
n.635A>C
c.799A>C (p.Ser267Arg)
c.514A>C (p.Ser172Arg)
n.107T>G
c.910A>C (p.Ser304Arg)
6g.10404609G>ACA448717650TFAP2A,TFAP2A-AS2c.645C>T (p.Leu215=)
c.669C>T (p.Leu223=)
c.*160C>T (n.*160C>T)
c.234C>T (p.Leu78=)
c.651C>T (p.Leu217=)
c.663C>T (p.Leu221=)
c.377C>T
n.663C>T
n.634C>T
c.798C>T (p.Leu266=)
c.513C>T (p.Leu171=)
n.108G>A
c.909C>T (p.Leu303=)
 COSMIC COSMIC COSMIC
6g.10404609G>CCA448717651TFAP2A,TFAP2A-AS2c.645C>G (p.Leu215=)
c.669C>G (p.Leu223=)
c.*160C>G (n.*160C>G)
c.234C>G (p.Leu78=)
c.651C>G (p.Leu217=)
c.663C>G (p.Leu221=)
c.377C>G
n.663C>G
n.634C>G
c.798C>G (p.Leu266=)
c.513C>G (p.Leu171=)
n.108G>C
c.909C>G (p.Leu303=)
6g.10404609G>TCA448717652TFAP2A,TFAP2A-AS2c.645C>A (p.Leu215=)
c.669C>A (p.Leu223=)
c.*160C>A (n.*160C>A)
c.234C>A (p.Leu78=)
c.651C>A (p.Leu217=)
c.663C>A (p.Leu221=)
c.377C>A
n.663C>A
n.634C>A
c.798C>A (p.Leu266=)
c.513C>A (p.Leu171=)
n.108G>T
c.909C>A (p.Leu303=)
 COSMIC COSMIC COSMIC
6g.10404610A>CCA362701452TFAP2A,TFAP2A-AS2c.644T>G (p.Leu215Arg)
c.668T>G (p.Leu223Arg)
c.*159T>G (n.*159T>G)
c.233T>G (p.Leu78Arg)
c.650T>G (p.Leu217Arg)
c.662T>G (p.Leu221Arg)
c.376T>G
n.662T>G
n.633T>G
c.797T>G (p.Leu266Arg)
c.512T>G (p.Leu171Arg)
n.109A>C
c.908T>G (p.Leu303Arg)
6g.10404610A>GCA362701448TFAP2A,TFAP2A-AS2c.644T>C (p.Leu215Pro)
c.668T>C (p.Leu223Pro)
c.*159T>C (n.*159T>C)
c.233T>C (p.Leu78Pro)
c.650T>C (p.Leu217Pro)
c.662T>C (p.Leu221Pro)
c.376T>C
n.662T>C
n.633T>C
c.797T>C (p.Leu266Pro)
c.512T>C (p.Leu171Pro)
n.109A>G
c.908T>C (p.Leu303Pro)
6g.10404610A>TCA362701450TFAP2A,TFAP2A-AS2c.644T>A (p.Leu215His)
c.668T>A (p.Leu223His)
c.*159T>A (n.*159T>A)
c.233T>A (p.Leu78His)
c.650T>A (p.Leu217His)
c.662T>A (p.Leu221His)
c.376T>A
n.662T>A
n.633T>A
c.797T>A (p.Leu266His)
c.512T>A (p.Leu171His)
n.109A>T
c.908T>A (p.Leu303His)
6g.10404611G>ACA362701453TFAP2A,TFAP2A-AS2c.643C>T (p.Leu215Phe)
c.667C>T (p.Leu223Phe)
c.*158C>T (n.*158C>T)
c.232C>T (p.Leu78Phe)
c.649C>T (p.Leu217Phe)
c.661C>T (p.Leu221Phe)
c.375C>T
n.661C>T
n.632C>T
c.796C>T (p.Leu266Phe)
c.511C>T (p.Leu171Phe)
n.110G>A
c.907C>T (p.Leu303Phe)
6g.10404611G>CCA362701454TFAP2A,TFAP2A-AS2c.643C>G (p.Leu215Val)
c.667C>G (p.Leu223Val)
c.*158C>G (n.*158C>G)
c.232C>G (p.Leu78Val)
c.649C>G (p.Leu217Val)
c.661C>G (p.Leu221Val)
c.375C>G
n.661C>G
n.632C>G
c.796C>G (p.Leu266Val)
c.511C>G (p.Leu171Val)
n.110G>C
c.907C>G (p.Leu303Val)
6g.10404611G>TCA362701456TFAP2A,TFAP2A-AS2c.643C>A (p.Leu215Ile)
c.667C>A (p.Leu223Ile)
c.*158C>A (n.*158C>A)
c.232C>A (p.Leu78Ile)
c.649C>A (p.Leu217Ile)
c.661C>A (p.Leu221Ile)
c.375C>A
n.661C>A
n.632C>A
c.796C>A (p.Leu266Ile)
c.511C>A (p.Leu171Ile)
n.110G>T
c.907C>A (p.Leu303Ile)
6g.10404612G>ACA448717658TFAP2A,TFAP2A-AS2c.642C>T (p.Leu214=)
c.666C>T (p.Leu222=)
c.*157C>T (n.*157C>T)
c.231C>T (p.Leu77=)
c.648C>T (p.Leu216=)
c.660C>T (p.Leu220=)
c.374C>T
n.660C>T
n.631C>T
c.795C>T (p.Leu265=)
c.510C>T (p.Leu170=)
n.111G>A
c.906C>T (p.Leu302=)
6g.10404612G>CCA448717659TFAP2A,TFAP2A-AS2c.642C>G (p.Leu214=)
c.666C>G (p.Leu222=)
c.*157C>G (n.*157C>G)
c.231C>G (p.Leu77=)
c.648C>G (p.Leu216=)
c.660C>G (p.Leu220=)
c.374C>G
n.660C>G
n.631C>G
c.795C>G (p.Leu265=)
c.510C>G (p.Leu170=)
n.111G>C
c.906C>G (p.Leu302=)
 gnomAD v4
6g.10404612G=CA1609976766TFAP2A,TFAP2A-AS2c.642C= (p.Leu214=)
c.666C= (p.Leu222=)
c.*157C= (n.*157C=)
c.231C= (p.Leu77=)
c.648C= (p.Leu216=)
c.660C= (p.Leu220=)
c.374C=
n.660C=
n.631C=
c.795C= (p.Leu265=)
c.510C= (p.Leu170=)
n.111G=
c.906C= (p.Leu302=)
6g.10404612G>TCA448717657TFAP2A,TFAP2A-AS2c.642C>A (p.Leu214=)
c.666C>A (p.Leu222=)
c.*157C>A (n.*157C>A)
c.231C>A (p.Leu77=)
c.648C>A (p.Leu216=)
c.660C>A (p.Leu220=)
c.374C>A
n.660C>A
n.631C>A
c.795C>A (p.Leu265=)
c.510C>A (p.Leu170=)
n.111G>T
c.906C>A (p.Leu302=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404613A>CCA362701458TFAP2A,TFAP2A-AS2c.641T>G (p.Leu214Arg)
c.665T>G (p.Leu222Arg)
c.*156T>G (n.*156T>G)
c.230T>G (p.Leu77Arg)
c.647T>G (p.Leu216Arg)
c.659T>G (p.Leu220Arg)
c.373T>G
n.659T>G
n.630T>G
c.794T>G (p.Leu265Arg)
c.509T>G (p.Leu170Arg)
n.112A>C
c.905T>G (p.Leu302Arg)
6g.10404613A>GCA362701459TFAP2A,TFAP2A-AS2c.641T>C (p.Leu214Pro)
c.665T>C (p.Leu222Pro)
c.*156T>C (n.*156T>C)
c.230T>C (p.Leu77Pro)
c.647T>C (p.Leu216Pro)
c.659T>C (p.Leu220Pro)
c.373T>C
n.659T>C
n.630T>C
c.794T>C (p.Leu265Pro)
c.509T>C (p.Leu170Pro)
n.112A>G
c.905T>C (p.Leu302Pro)
6g.10404613A>TCA362701461TFAP2A,TFAP2A-AS2c.641T>A (p.Leu214His)
c.665T>A (p.Leu222His)
c.*156T>A (n.*156T>A)
c.230T>A (p.Leu77His)
c.647T>A (p.Leu216His)
c.659T>A (p.Leu220His)
c.373T>A
n.659T>A
n.630T>A
c.794T>A (p.Leu265His)
c.509T>A (p.Leu170His)
n.112A>T
c.905T>A (p.Leu302His)
6g.10404614G>ACA362701463TFAP2A,TFAP2A-AS2c.640C>T (p.Leu214Phe)
c.664C>T (p.Leu222Phe)
c.*155C>T (n.*155C>T)
c.229C>T (p.Leu77Phe)
c.646C>T (p.Leu216Phe)
c.658C>T (p.Leu220Phe)
c.372C>T
n.658C>T
n.629C>T
c.793C>T (p.Leu265Phe)
c.508C>T (p.Leu170Phe)
n.113G>A
c.904C>T (p.Leu302Phe)
6g.10404614G>CCA362701465TFAP2A,TFAP2A-AS2c.640C>G (p.Leu214Val)
c.664C>G (p.Leu222Val)
c.*155C>G (n.*155C>G)
c.229C>G (p.Leu77Val)
c.646C>G (p.Leu216Val)
c.658C>G (p.Leu220Val)
c.372C>G
n.658C>G
n.629C>G
c.793C>G (p.Leu265Val)
c.508C>G (p.Leu170Val)
n.113G>C
c.904C>G (p.Leu302Val)
6g.10404614G>TCA362701466TFAP2A,TFAP2A-AS2c.640C>A (p.Leu214Ile)
c.664C>A (p.Leu222Ile)
c.*155C>A (n.*155C>A)
c.229C>A (p.Leu77Ile)
c.646C>A (p.Leu216Ile)
c.658C>A (p.Leu220Ile)
c.372C>A
n.658C>A
n.629C>A
c.793C>A (p.Leu265Ile)
c.508C>A (p.Leu170Ile)
n.113G>T
c.904C>A (p.Leu302Ile)
6g.10404615C>ACA448717666TFAP2A,TFAP2A-AS2c.639G>T (p.Ser213=)
c.663G>T (p.Ser221=)
c.*154G>T (n.*154G>T)
c.228G>T (p.Ser76=)
c.645G>T (p.Ser215=)
c.657G>T (p.Ser219=)
c.371G>T
n.657G>T
n.628G>T
c.792G>T (p.Ser264=)
c.507G>T (p.Ser169=)
n.114C>A
c.903G>T (p.Ser301=)
6g.10404615C=CA1609976767TFAP2A,TFAP2A-AS2c.639G= (p.Ser213=)
c.663G= (p.Ser221=)
c.*154G= (n.*154G=)
c.228G= (p.Ser76=)
c.645G= (p.Ser215=)
c.657G= (p.Ser219=)
c.371G=
n.657G=
n.628G=
c.792G= (p.Ser264=)
c.507G= (p.Ser169=)
n.114C=
c.903G= (p.Ser301=)
6g.10404615C>GCA448717667TFAP2A,TFAP2A-AS2c.639G>C (p.Ser213=)
c.663G>C (p.Ser221=)
c.*154G>C (n.*154G>C)
c.228G>C (p.Ser76=)
c.645G>C (p.Ser215=)
c.657G>C (p.Ser219=)
c.371G>C
n.657G>C
n.628G>C
c.792G>C (p.Ser264=)
c.507G>C (p.Ser169=)
n.114C>G
c.903G>C (p.Ser301=)
 gnomAD v4
6g.10404615C>TCA448717668TFAP2A,TFAP2A-AS2c.639G>A (p.Ser213=)
c.663G>A (p.Ser221=)
c.*154G>A (n.*154G>A)
c.228G>A (p.Ser76=)
c.645G>A (p.Ser215=)
c.657G>A (p.Ser219=)
c.371G>A
n.657G>A
n.628G>A
c.792G>A (p.Ser264=)
c.507G>A (p.Ser169=)
n.114C>T
c.903G>A (p.Ser301=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404616G>ACA362701468TFAP2A,TFAP2A-AS2c.638C>T (p.Ser213Leu)
c.662C>T (p.Ser221Leu)
c.*153C>T (n.*153C>T)
c.227C>T (p.Ser76Leu)
c.644C>T (p.Ser215Leu)
c.656C>T (p.Ser219Leu)
c.370C>T
n.656C>T
n.627C>T
c.791C>T (p.Ser264Leu)
c.506C>T (p.Ser169Leu)
n.115G>A
c.902C>T (p.Ser301Leu)
6g.10404616G>CCA362701470TFAP2A,TFAP2A-AS2c.638C>G (p.Ser213Trp)
c.662C>G (p.Ser221Trp)
c.*153C>G (n.*153C>G)
c.227C>G (p.Ser76Trp)
c.644C>G (p.Ser215Trp)
c.656C>G (p.Ser219Trp)
c.370C>G
n.656C>G
n.627C>G
c.791C>G (p.Ser264Trp)
c.506C>G (p.Ser169Trp)
n.115G>C
c.902C>G (p.Ser301Trp)
6g.10404616G>TCA362701472TFAP2A,TFAP2A-AS2c.638C>A (p.Ser213Ter)
c.662C>A (p.Ser221Ter)
c.*153C>A (n.*153C>A)
c.227C>A (p.Ser76Ter)
c.644C>A (p.Ser215Ter)
c.656C>A (p.Ser219Ter)
c.370C>A
n.656C>A
n.627C>A
c.791C>A (p.Ser264Ter)
c.506C>A (p.Ser169Ter)
n.115G>T
c.902C>A (p.Ser301Ter)
6g.10404617A>CCA362701476TFAP2A,TFAP2A-AS2c.637T>G (p.Ser213Ala)
c.661T>G (p.Ser221Ala)
c.*152T>G (n.*152T>G)
c.226T>G (p.Ser76Ala)
c.643T>G (p.Ser215Ala)
c.655T>G (p.Ser219Ala)
c.369T>G
n.655T>G
n.626T>G
c.790T>G (p.Ser264Ala)
c.505T>G (p.Ser169Ala)
n.116A>C
c.901T>G (p.Ser301Ala)
6g.10404617A>GCA362701478TFAP2A,TFAP2A-AS2c.637T>C (p.Ser213Pro)
c.661T>C (p.Ser221Pro)
c.*152T>C (n.*152T>C)
c.226T>C (p.Ser76Pro)
c.643T>C (p.Ser215Pro)
c.655T>C (p.Ser219Pro)
c.369T>C
n.655T>C
n.626T>C
c.790T>C (p.Ser264Pro)
c.505T>C (p.Ser169Pro)
n.116A>G
c.901T>C (p.Ser301Pro)
6g.10404617A>TCA362701474TFAP2A,TFAP2A-AS2c.637T>A (p.Ser213Thr)
c.661T>A (p.Ser221Thr)
c.*152T>A (n.*152T>A)
c.226T>A (p.Ser76Thr)
c.643T>A (p.Ser215Thr)
c.655T>A (p.Ser219Thr)
c.369T>A
n.655T>A
n.626T>A
c.790T>A (p.Ser264Thr)
c.505T>A (p.Ser169Thr)
n.116A>T
c.901T>A (p.Ser301Thr)
6g.10404618G>ACA3631273TFAP2A,TFAP2A-AS2c.636C>T (p.Leu212=)
c.660C>T (p.Leu220=)
c.*151C>T (n.*151C>T)
c.225C>T (p.Leu75=)
c.642C>T (p.Leu214=)
c.654C>T (p.Leu218=)
c.368C>T
n.654C>T
n.625C>T
c.789C>T (p.Leu263=)
c.504C>T (p.Leu168=)
n.117G>A
c.900C>T (p.Leu300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404618G>CCA448717672TFAP2A,TFAP2A-AS2c.636C>G (p.Leu212=)
c.660C>G (p.Leu220=)
c.*151C>G (n.*151C>G)
c.225C>G (p.Leu75=)
c.642C>G (p.Leu214=)
c.654C>G (p.Leu218=)
c.368C>G
n.654C>G
n.625C>G
c.789C>G (p.Leu263=)
c.504C>G (p.Leu168=)
n.117G>C
c.900C>G (p.Leu300=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404618G=CA1609976768TFAP2A,TFAP2A-AS2c.636C= (p.Leu212=)
c.660C= (p.Leu220=)
c.*151C= (n.*151C=)
c.225C= (p.Leu75=)
c.642C= (p.Leu214=)
c.654C= (p.Leu218=)
c.368C=
n.654C=
n.625C=
c.789C= (p.Leu263=)
c.504C= (p.Leu168=)
n.117G=
c.900C= (p.Leu300=)
6g.10404618G>TCA448717671TFAP2A,TFAP2A-AS2c.636C>A (p.Leu212=)
c.660C>A (p.Leu220=)
c.*151C>A (n.*151C>A)
c.225C>A (p.Leu75=)
c.642C>A (p.Leu214=)
c.654C>A (p.Leu218=)
c.368C>A
n.654C>A
n.625C>A
c.789C>A (p.Leu263=)
c.504C>A (p.Leu168=)
n.117G>T
c.900C>A (p.Leu300=)
6g.10404619A>CCA362701479TFAP2A,TFAP2A-AS2c.635T>G (p.Leu212Arg)
c.659T>G (p.Leu220Arg)
c.*150T>G (n.*150T>G)
c.224T>G (p.Leu75Arg)
c.641T>G (p.Leu214Arg)
c.653T>G (p.Leu218Arg)
c.367T>G
n.653T>G
n.624T>G
c.788T>G (p.Leu263Arg)
c.503T>G (p.Leu168Arg)
n.118A>C
c.899T>G (p.Leu300Arg)
6g.10404619A>GCA362701481TFAP2A,TFAP2A-AS2c.635T>C (p.Leu212Pro)
c.659T>C (p.Leu220Pro)
c.*150T>C (n.*150T>C)
c.224T>C (p.Leu75Pro)
c.641T>C (p.Leu214Pro)
c.653T>C (p.Leu218Pro)
c.367T>C
n.653T>C
n.624T>C
c.788T>C (p.Leu263Pro)
c.503T>C (p.Leu168Pro)
n.118A>G
c.899T>C (p.Leu300Pro)
 ClinVar
6g.10404619A>TCA362701483TFAP2A,TFAP2A-AS2c.635T>A (p.Leu212His)
c.659T>A (p.Leu220His)
c.*150T>A (n.*150T>A)
c.224T>A (p.Leu75His)
c.641T>A (p.Leu214His)
c.653T>A (p.Leu218His)
c.367T>A
n.653T>A
n.624T>A
c.788T>A (p.Leu263His)
c.503T>A (p.Leu168His)
n.118A>T
c.899T>A (p.Leu300His)
6g.10404620G>ACA362701485TFAP2A,TFAP2A-AS2c.634C>T (p.Leu212Phe)
c.658C>T (p.Leu220Phe)
c.*149C>T (n.*149C>T)
c.223C>T (p.Leu75Phe)
c.640C>T (p.Leu214Phe)
c.652C>T (p.Leu218Phe)
c.366C>T
n.652C>T
n.623C>T
c.787C>T (p.Leu263Phe)
c.502C>T (p.Leu168Phe)
n.119G>A
c.898C>T (p.Leu300Phe)
6g.10404620G>CCA362701487TFAP2A,TFAP2A-AS2c.634C>G (p.Leu212Val)
c.658C>G (p.Leu220Val)
c.*149C>G (n.*149C>G)
c.223C>G (p.Leu75Val)
c.640C>G (p.Leu214Val)
c.652C>G (p.Leu218Val)
c.366C>G
n.652C>G
n.623C>G
c.787C>G (p.Leu263Val)
c.502C>G (p.Leu168Val)
n.119G>C
c.898C>G (p.Leu300Val)
6g.10404620G>TCA362701489TFAP2A,TFAP2A-AS2c.634C>A (p.Leu212Ile)
c.658C>A (p.Leu220Ile)
c.*149C>A (n.*149C>A)
c.223C>A (p.Leu75Ile)
c.640C>A (p.Leu214Ile)
c.652C>A (p.Leu218Ile)
c.366C>A
n.652C>A
n.623C>A
c.787C>A (p.Leu263Ile)
c.502C>A (p.Leu168Ile)
n.119G>T
c.898C>A (p.Leu300Ile)
6g.10404621G>ACA3631274TFAP2A,TFAP2A-AS2c.633C>T (p.Arg211=)
c.657C>T (p.Arg219=)
c.*148C>T (n.*148C>T)
c.222C>T (p.Arg74=)
c.639C>T (p.Arg213=)
c.651C>T (p.Arg217=)
c.365C>T
n.651C>T
n.893C>T
n.622C>T
c.786C>T (p.Arg262=)
c.501C>T (p.Arg167=)
n.120G>A
c.897C>T (p.Arg299=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404621G>CCA448717679TFAP2A,TFAP2A-AS2c.633C>G (p.Arg211=)
c.657C>G (p.Arg219=)
c.*148C>G (n.*148C>G)
c.222C>G (p.Arg74=)
c.639C>G (p.Arg213=)
c.651C>G (p.Arg217=)
c.365C>G
n.651C>G
n.893C>G
n.622C>G
c.786C>G (p.Arg262=)
c.501C>G (p.Arg167=)
n.120G>C
c.897C>G (p.Arg299=)
6g.10404621G=CA1609976769TFAP2A,TFAP2A-AS2c.633C= (p.Arg211=)
c.657C= (p.Arg219=)
c.*148C= (n.*148C=)
c.222C= (p.Arg74=)
c.639C= (p.Arg213=)
c.651C= (p.Arg217=)
c.365C=
n.651C=
n.893C=
n.622C=
c.786C= (p.Arg262=)
c.501C= (p.Arg167=)
n.120G=
c.897C= (p.Arg299=)
6g.10404621G>TCA448717680TFAP2A,TFAP2A-AS2c.633C>A (p.Arg211=)
c.657C>A (p.Arg219=)
c.*148C>A (n.*148C>A)
c.222C>A (p.Arg74=)
c.639C>A (p.Arg213=)
c.651C>A (p.Arg217=)
c.365C>A
n.651C>A
n.893C>A
n.622C>A
c.786C>A (p.Arg262=)
c.501C>A (p.Arg167=)
n.120G>T
c.897C>A (p.Arg299=)
6g.10404622C>ACA362701491TFAP2A,TFAP2A-AS2c.632G>T (p.Arg211Leu)
c.656G>T (p.Arg219Leu)
c.*147G>T (n.*147G>T)
c.221G>T (p.Arg74Leu)
c.638G>T (p.Arg213Leu)
c.650G>T (p.Arg217Leu)
c.364G>T
n.650G>T
n.892G>T
n.621G>T
c.785G>T (p.Arg262Leu)
c.500G>T (p.Arg167Leu)
n.121C>A
c.896G>T (p.Arg299Leu)
 ClinVar dbSNP
6g.10404622C=CA1609976770TFAP2A,TFAP2A-AS2c.632G= (p.Arg211=)
c.656G= (p.Arg219=)
c.*147G= (n.*147G=)
c.221G= (p.Arg74=)
c.638G= (p.Arg213=)
c.650G= (p.Arg217=)
c.364G=
n.650G=
n.892G=
n.621G=
c.785G= (p.Arg262=)
c.500G= (p.Arg167=)
n.121C=
c.896G= (p.Arg299=)
6g.10404622C>GCA362701493TFAP2A,TFAP2A-AS2c.632G>C (p.Arg211Pro)
c.656G>C (p.Arg219Pro)
c.*147G>C (n.*147G>C)
c.221G>C (p.Arg74Pro)
c.638G>C (p.Arg213Pro)
c.650G>C (p.Arg217Pro)
c.364G>C
n.650G>C
n.892G>C
n.621G>C
c.785G>C (p.Arg262Pro)
c.500G>C (p.Arg167Pro)
n.121C>G
c.896G>C (p.Arg299Pro)
 ClinVar
6g.10404622C>TCA362701495TFAP2A,TFAP2A-AS2c.632G>A (p.Arg211His)
c.656G>A (p.Arg219His)
c.*147G>A (n.*147G>A)
c.221G>A (p.Arg74His)
c.638G>A (p.Arg213His)
c.650G>A (p.Arg217His)
c.364G>A
n.650G>A
n.892G>A
n.621G>A
c.785G>A (p.Arg262His)
c.500G>A (p.Arg167His)
n.121C>T
c.896G>A (p.Arg299His)
6g.10404623G>ACA362701497TFAP2A,TFAP2A-AS2c.631C>T (p.Arg211Cys)
c.655C>T (p.Arg219Cys)
c.*146C>T (n.*146C>T)
c.220C>T (p.Arg74Cys)
c.637C>T (p.Arg213Cys)
c.649C>T (p.Arg217Cys)
c.363C>T
n.649C>T
n.891C>T
n.620C>T
c.784C>T (p.Arg262Cys)
c.499C>T (p.Arg167Cys)
n.122G>A
c.895C>T (p.Arg299Cys)
 gnomAD v4
6g.10404623G>CCA362701498TFAP2A,TFAP2A-AS2c.631C>G (p.Arg211Gly)
c.655C>G (p.Arg219Gly)
c.*146C>G (n.*146C>G)
c.220C>G (p.Arg74Gly)
c.637C>G (p.Arg213Gly)
c.649C>G (p.Arg217Gly)
c.363C>G
n.649C>G
n.891C>G
n.620C>G
c.784C>G (p.Arg262Gly)
c.499C>G (p.Arg167Gly)
n.122G>C
c.895C>G (p.Arg299Gly)
6g.10404623G=CA1609976771TFAP2A,TFAP2A-AS2c.631C= (p.Arg211=)
c.655C= (p.Arg219=)
c.*146C= (n.*146C=)
c.220C= (p.Arg74=)
c.637C= (p.Arg213=)
c.649C= (p.Arg217=)
c.363C=
n.649C=
n.891C=
n.620C=
c.784C= (p.Arg262=)
c.499C= (p.Arg167=)
n.122G=
c.895C= (p.Arg299=)
6g.10404623G>TCA004715TFAP2A,TFAP2A-AS2c.631C>A (p.Arg211Ser)
c.655C>A (p.Arg219Ser)
c.*146C>A (n.*146C>A)
c.220C>A (p.Arg74Ser)
c.637C>A (p.Arg213Ser)
c.649C>A (p.Arg217Ser)
c.363C>A
n.649C>A
n.891C>A
n.620C>A
c.784C>A (p.Arg262Ser)
c.499C>A (p.Arg167Ser)
n.122G>T
c.895C>A (p.Arg299Ser)
 ClinVar dbSNP
6g.10404624A>CCA448717684TFAP2A,TFAP2A-AS2c.630T>G (p.Gly210=)
c.654T>G (p.Gly218=)
c.*145T>G (n.*145T>G)
c.219T>G (p.Gly73=)
c.636T>G (p.Gly212=)
c.648T>G (p.Gly216=)
c.362T>G
n.648T>G
n.890T>G
n.619T>G
c.783T>G (p.Gly261=)
c.498T>G (p.Gly166=)
n.123A>C
c.894T>G (p.Gly298=)
6g.10404624A>GCA448717685TFAP2A,TFAP2A-AS2c.630T>C (p.Gly210=)
c.654T>C (p.Gly218=)
c.*145T>C (n.*145T>C)
c.219T>C (p.Gly73=)
c.636T>C (p.Gly212=)
c.648T>C (p.Gly216=)
c.362T>C
n.648T>C
n.890T>C
n.619T>C
c.783T>C (p.Gly261=)
c.498T>C (p.Gly166=)
n.123A>G
c.894T>C (p.Gly298=)
6g.10404624A>TCA448717686TFAP2A,TFAP2A-AS2c.630T>A (p.Gly210=)
c.654T>A (p.Gly218=)
c.*145T>A (n.*145T>A)
c.219T>A (p.Gly73=)
c.636T>A (p.Gly212=)
c.648T>A (p.Gly216=)
c.362T>A
n.648T>A
n.890T>A
n.619T>A
c.783T>A (p.Gly261=)
c.498T>A (p.Gly166=)
n.123A>T
c.894T>A (p.Gly298=)
6g.10404625C>ACA362701505TFAP2A,TFAP2A-AS2c.629G>T (p.Gly210Val)
c.653G>T (p.Gly218Val)
c.*144G>T (n.*144G>T)
c.218G>T (p.Gly73Val)
c.635G>T (p.Gly212Val)
c.647G>T (p.Gly216Val)
c.361G>T
n.647G>T
n.889G>T
n.618G>T
c.782G>T (p.Gly261Val)
c.497G>T (p.Gly166Val)
n.124C>A
c.893G>T (p.Gly298Val)
6g.10404625C>GCA362701501TFAP2A,TFAP2A-AS2c.629G>C (p.Gly210Ala)
c.653G>C (p.Gly218Ala)
c.*144G>C (n.*144G>C)
c.218G>C (p.Gly73Ala)
c.635G>C (p.Gly212Ala)
c.647G>C (p.Gly216Ala)
c.361G>C
n.647G>C
n.889G>C
n.618G>C
c.782G>C (p.Gly261Ala)
c.497G>C (p.Gly166Ala)
n.124C>G
c.893G>C (p.Gly298Ala)
6g.10404625C>TCA362701503TFAP2A,TFAP2A-AS2c.629G>A (p.Gly210Asp)
c.653G>A (p.Gly218Asp)
c.*144G>A (n.*144G>A)
c.218G>A (p.Gly73Asp)
c.635G>A (p.Gly212Asp)
c.647G>A (p.Gly216Asp)
c.361G>A
n.647G>A
n.889G>A
n.618G>A
c.782G>A (p.Gly261Asp)
c.497G>A (p.Gly166Asp)
n.124C>T
c.893G>A (p.Gly298Asp)
6g.10404626C>ACA362701507TFAP2A,TFAP2A-AS2c.628G>T (p.Gly210Cys)
c.652G>T (p.Gly218Cys)
c.*143G>T (n.*143G>T)
c.217G>T (p.Gly73Cys)
c.634G>T (p.Gly212Cys)
c.646G>T (p.Gly216Cys)
c.360G>T
n.646G>T
n.888G>T
n.617G>T
c.781G>T (p.Gly261Cys)
c.496G>T (p.Gly166Cys)
n.125C>A
c.892G>T (p.Gly298Cys)
 COSMIC COSMIC COSMIC
6g.10404626C>GCA362701508TFAP2A,TFAP2A-AS2c.628G>C (p.Gly210Arg)
c.652G>C (p.Gly218Arg)
c.*143G>C (n.*143G>C)
c.217G>C (p.Gly73Arg)
c.634G>C (p.Gly212Arg)
c.646G>C (p.Gly216Arg)
c.360G>C
n.646G>C
n.888G>C
n.617G>C
c.781G>C (p.Gly261Arg)
c.496G>C (p.Gly166Arg)
n.125C>G
c.892G>C (p.Gly298Arg)
6g.10404626C>TCA362701510TFAP2A,TFAP2A-AS2c.628G>A (p.Gly210Ser)
c.652G>A (p.Gly218Ser)
c.*143G>A (n.*143G>A)
c.217G>A (p.Gly73Ser)
c.634G>A (p.Gly212Ser)
c.646G>A (p.Gly216Ser)
c.360G>A
n.646G>A
n.888G>A
n.617G>A
c.781G>A (p.Gly261Ser)
c.496G>A (p.Gly166Ser)
n.125C>T
c.892G>A (p.Gly298Ser)
 gnomAD v4
6g.10404627C>ACA448717689TFAP2A,TFAP2A-AS2c.627G>T (p.Pro209=)
c.651G>T (p.Pro217=)
c.*142G>T (n.*142G>T)
c.216G>T (p.Pro72=)
c.633G>T (p.Pro211=)
c.645G>T (p.Pro215=)
c.359G>T
n.645G>T
n.887G>T
n.616G>T
c.780G>T (p.Pro260=)
c.495G>T (p.Pro165=)
n.126C>A
c.891G>T (p.Pro297=)
6g.10404627C>GCA448717690TFAP2A,TFAP2A-AS2c.627G>C (p.Pro209=)
c.651G>C (p.Pro217=)
c.*142G>C (n.*142G>C)
c.216G>C (p.Pro72=)
c.633G>C (p.Pro211=)
c.645G>C (p.Pro215=)
c.359G>C
n.645G>C
n.887G>C
n.616G>C
c.780G>C (p.Pro260=)
c.495G>C (p.Pro165=)
n.126C>G
c.891G>C (p.Pro297=)
6g.10404627C>TCA448717691TFAP2A,TFAP2A-AS2c.627G>A (p.Pro209=)
c.651G>A (p.Pro217=)
c.*142G>A (n.*142G>A)
c.216G>A (p.Pro72=)
c.633G>A (p.Pro211=)
c.645G>A (p.Pro215=)
c.359G>A
n.645G>A
n.887G>A
n.616G>A
c.780G>A (p.Pro260=)
c.495G>A (p.Pro165=)
n.126C>T
c.891G>A (p.Pro297=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404628G>ACA362701512TFAP2A,TFAP2A-AS2c.626C>T (p.Pro209Leu)
c.650C>T (p.Pro217Leu)
c.*141C>T (n.*141C>T)
c.215C>T (p.Pro72Leu)
c.632C>T (p.Pro211Leu)
c.644C>T (p.Pro215Leu)
c.358C>T
n.644C>T
n.886C>T
n.615C>T
c.779C>T (p.Pro260Leu)
c.494C>T (p.Pro165Leu)
n.127G>A
c.890C>T (p.Pro297Leu)
 dbSNP gnomAD v4
6g.10404628G>CCA362701514TFAP2A,TFAP2A-AS2c.626C>G (p.Pro209Arg)
c.650C>G (p.Pro217Arg)
c.*141C>G (n.*141C>G)
c.215C>G (p.Pro72Arg)
c.632C>G (p.Pro211Arg)
c.644C>G (p.Pro215Arg)
c.358C>G
n.644C>G
n.886C>G
n.615C>G
c.779C>G (p.Pro260Arg)
c.494C>G (p.Pro165Arg)
n.127G>C
c.890C>G (p.Pro297Arg)
6g.10404628G>TCA362701516TFAP2A,TFAP2A-AS2c.626C>A (p.Pro209Gln)
c.650C>A (p.Pro217Gln)
c.*141C>A (n.*141C>A)
c.215C>A (p.Pro72Gln)
c.632C>A (p.Pro211Gln)
c.644C>A (p.Pro215Gln)
c.358C>A
n.644C>A
n.886C>A
n.615C>A
c.779C>A (p.Pro260Gln)
c.494C>A (p.Pro165Gln)
n.127G>T
c.890C>A (p.Pro297Gln)
6g.10404629G>ACA362701518TFAP2A,TFAP2A-AS2c.625C>T (p.Pro209Ser)
c.649C>T (p.Pro217Ser)
c.*140C>T (n.*140C>T)
c.214C>T (p.Pro72Ser)
c.631C>T (p.Pro211Ser)
c.643C>T (p.Pro215Ser)
c.357C>T
n.643C>T
n.885C>T
n.614C>T
c.778C>T (p.Pro260Ser)
c.493C>T (p.Pro165Ser)
n.128G>A
c.889C>T (p.Pro297Ser)
6g.10404629G>CCA362701520TFAP2A,TFAP2A-AS2c.625C>G (p.Pro209Ala)
c.649C>G (p.Pro217Ala)
c.*140C>G (n.*140C>G)
c.214C>G (p.Pro72Ala)
c.631C>G (p.Pro211Ala)
c.643C>G (p.Pro215Ala)
c.357C>G
n.643C>G
n.885C>G
n.614C>G
c.778C>G (p.Pro260Ala)
c.493C>G (p.Pro165Ala)
n.128G>C
c.889C>G (p.Pro297Ala)
6g.10404629G>TCA362701522TFAP2A,TFAP2A-AS2c.625C>A (p.Pro209Thr)
c.649C>A (p.Pro217Thr)
c.*140C>A (n.*140C>A)
c.214C>A (p.Pro72Thr)
c.631C>A (p.Pro211Thr)
c.643C>A (p.Pro215Thr)
c.357C>A
n.643C>A
n.885C>A
n.614C>A
c.778C>A (p.Pro260Thr)
c.493C>A (p.Pro165Thr)
n.128G>T
c.889C>A (p.Pro297Thr)
6g.10404630A>CCA448717698TFAP2A,TFAP2A-AS2c.624T>G (p.Val208=)
c.648T>G (p.Val216=)
c.*139T>G (n.*139T>G)
c.213T>G (p.Val71=)
c.630T>G (p.Val210=)
c.642T>G (p.Val214=)
c.356T>G
n.642T>G
n.884T>G
n.613T>G
c.777T>G (p.Val259=)
c.492T>G (p.Val164=)
n.129A>C
c.888T>G (p.Val296=)
6g.10404630A>GCA448717699TFAP2A,TFAP2A-AS2c.624T>C (p.Val208=)
c.648T>C (p.Val216=)
c.*139T>C (n.*139T>C)
c.213T>C (p.Val71=)
c.630T>C (p.Val210=)
c.642T>C (p.Val214=)
c.356T>C
n.642T>C
n.884T>C
n.613T>C
c.777T>C (p.Val259=)
c.492T>C (p.Val164=)
n.129A>G
c.888T>C (p.Val296=)
6g.10404630A>TCA448717700TFAP2A,TFAP2A-AS2c.624T>A (p.Val208=)
c.648T>A (p.Val216=)
c.*139T>A (n.*139T>A)
c.213T>A (p.Val71=)
c.630T>A (p.Val210=)
c.642T>A (p.Val214=)
c.356T>A
n.642T>A
n.884T>A
n.613T>A
c.777T>A (p.Val259=)
c.492T>A (p.Val164=)
n.129A>T
c.888T>A (p.Val296=)
6g.10404631A=CA1609976772TFAP2A,TFAP2A-AS2c.623T= (p.Val208=)
c.647T= (p.Val216=)
c.*138T= (n.*138T=)
c.212T= (p.Val71=)
c.629T= (p.Val210=)
c.641T= (p.Val214=)
c.355T=
n.641T=
n.883T=
n.612T=
c.776T= (p.Val259=)
c.491T= (p.Val164=)
n.130A=
c.887T= (p.Val296=)
6g.10404631A>CCA362701524TFAP2A,TFAP2A-AS2c.623T>G (p.Val208Gly)
c.647T>G (p.Val216Gly)
c.*138T>G (n.*138T>G)
c.212T>G (p.Val71Gly)
c.629T>G (p.Val210Gly)
c.641T>G (p.Val214Gly)
c.355T>G
n.641T>G
n.883T>G
n.612T>G
c.776T>G (p.Val259Gly)
c.491T>G (p.Val164Gly)
n.130A>C
c.887T>G (p.Val296Gly)
6g.10404631A>GCA362701526TFAP2A,TFAP2A-AS2c.623T>C (p.Val208Ala)
c.647T>C (p.Val216Ala)
c.*138T>C (n.*138T>C)
c.212T>C (p.Val71Ala)
c.629T>C (p.Val210Ala)
c.641T>C (p.Val214Ala)
c.355T>C
n.641T>C
n.883T>C
n.612T>C
c.776T>C (p.Val259Ala)
c.491T>C (p.Val164Ala)
n.130A>G
c.887T>C (p.Val296Ala)
6g.10404631A>TCA004709TFAP2A,TFAP2A-AS2c.623T>A (p.Val208Asp)
c.647T>A (p.Val216Asp)
c.*138T>A (n.*138T>A)
c.212T>A (p.Val71Asp)
c.629T>A (p.Val210Asp)
c.641T>A (p.Val214Asp)
c.355T>A
n.641T>A
n.883T>A
n.612T>A
c.776T>A (p.Val259Asp)
c.491T>A (p.Val164Asp)
n.130A>T
c.887T>A (p.Val296Asp)
 ClinVar dbSNP
6g.10404632C>ACA362701529TFAP2A,TFAP2A-AS2c.622G>T (p.Val208Phe)
c.646G>T (p.Val216Phe)
c.*137G>T (n.*137G>T)
c.211G>T (p.Val71Phe)
c.628G>T (p.Val210Phe)
c.640G>T (p.Val214Phe)
c.354G>T
n.640G>T
n.882G>T
n.611G>T
c.775G>T (p.Val259Phe)
c.490G>T (p.Val164Phe)
n.131C>A
c.886G>T (p.Val296Phe)
6g.10404632C=CA1609976773TFAP2A,TFAP2A-AS2c.622G= (p.Val208=)
c.646G= (p.Val216=)
c.*137G= (n.*137G=)
c.211G= (p.Val71=)
c.628G= (p.Val210=)
c.640G= (p.Val214=)
c.354G=
n.640G=
n.882G=
n.611G=
c.775G= (p.Val259=)
c.490G= (p.Val164=)
n.131C=
c.886G= (p.Val296=)
6g.10404632C>GCA362701532TFAP2A,TFAP2A-AS2c.622G>C (p.Val208Leu)
c.646G>C (p.Val216Leu)
c.*137G>C (n.*137G>C)
c.211G>C (p.Val71Leu)
c.628G>C (p.Val210Leu)
c.640G>C (p.Val214Leu)
c.354G>C
n.640G>C
n.882G>C
n.611G>C
c.775G>C (p.Val259Leu)
c.490G>C (p.Val164Leu)
n.131C>G
c.886G>C (p.Val296Leu)
6g.10404632C>TCA362701531TFAP2A,TFAP2A-AS2c.622G>A (p.Val208Ile)
c.646G>A (p.Val216Ile)
c.*137G>A (n.*137G>A)
c.211G>A (p.Val71Ile)
c.628G>A (p.Val210Ile)
c.640G>A (p.Val214Ile)
c.354G>A
n.640G>A
n.882G>A
n.611G>A
c.775G>A (p.Val259Ile)
c.490G>A (p.Val164Ile)
n.131C>T
c.886G>A (p.Val296Ile)
 dbSNP
6g.10404633T>ACA448717706TFAP2A,TFAP2A-AS2c.621A>T (p.Ser207=)
c.645A>T (p.Ser215=)
c.*136A>T (n.*136A>T)
c.210A>T (p.Ser70=)
c.627A>T (p.Ser209=)
c.639A>T (p.Ser213=)
c.353A>T
n.639A>T
n.881A>T
n.610A>T
c.774A>T (p.Ser258=)
c.489A>T (p.Ser163=)
n.132T>A
c.885A>T (p.Ser295=)
6g.10404633T>CCA448717704TFAP2A,TFAP2A-AS2c.621A>G (p.Ser207=)
c.645A>G (p.Ser215=)
c.*136A>G (n.*136A>G)
c.210A>G (p.Ser70=)
c.627A>G (p.Ser209=)
c.639A>G (p.Ser213=)
c.353A>G
n.639A>G
n.881A>G
n.610A>G
c.774A>G (p.Ser258=)
c.489A>G (p.Ser163=)
n.132T>C
c.885A>G (p.Ser295=)
6g.10404633T>GCA448717703TFAP2A,TFAP2A-AS2c.621A>C (p.Ser207=)
c.645A>C (p.Ser215=)
c.*136A>C (n.*136A>C)
c.210A>C (p.Ser70=)
c.627A>C (p.Ser209=)
c.639A>C (p.Ser213=)
c.353A>C
n.639A>C
n.881A>C
n.610A>C
c.774A>C (p.Ser258=)
c.489A>C (p.Ser163=)
n.132T>G
c.885A>C (p.Ser295=)
6g.10404634G>ACA134049170TFAP2A,TFAP2A-AS2c.620C>T (p.Ser207Leu)
c.644C>T (p.Ser215Leu)
c.*135C>T (n.*135C>T)
c.209C>T (p.Ser70Leu)
c.626C>T (p.Ser209Leu)
c.638C>T (p.Ser213Leu)
c.352C>T
n.638C>T
n.880C>T
n.609C>T
c.773C>T (p.Ser258Leu)
c.488C>T (p.Ser163Leu)
n.133G>A
c.884C>T (p.Ser295Leu)
 dbSNP COSMIC COSMIC COSMIC
6g.10404634G>CCA362701536TFAP2A,TFAP2A-AS2c.620C>G (p.Ser207Ter)
c.644C>G (p.Ser215Ter)
c.*135C>G (n.*135C>G)
c.209C>G (p.Ser70Ter)
c.626C>G (p.Ser209Ter)
c.638C>G (p.Ser213Ter)
c.352C>G
n.638C>G
n.880C>G
n.609C>G
c.773C>G (p.Ser258Ter)
c.488C>G (p.Ser163Ter)
n.133G>C
c.884C>G (p.Ser295Ter)
6g.10404634G=CA1609976774TFAP2A,TFAP2A-AS2c.620C= (p.Ser207=)
c.644C= (p.Ser215=)
c.*135C= (n.*135C=)
c.209C= (p.Ser70=)
c.626C= (p.Ser209=)
c.638C= (p.Ser213=)
c.352C=
n.638C=
n.880C=
n.609C=
c.773C= (p.Ser258=)
c.488C= (p.Ser163=)
n.133G=
c.884C= (p.Ser295=)
6g.10404634G>TCA362701537TFAP2A,TFAP2A-AS2c.620C>A (p.Ser207Ter)
c.644C>A (p.Ser215Ter)
c.*135C>A (n.*135C>A)
c.209C>A (p.Ser70Ter)
c.626C>A (p.Ser209Ter)
c.638C>A (p.Ser213Ter)
c.352C>A
n.638C>A
n.880C>A
n.609C>A
c.773C>A (p.Ser258Ter)
c.488C>A (p.Ser163Ter)
n.133G>T
c.884C>A (p.Ser295Ter)
6g.10404635A>CCA362701539TFAP2A,TFAP2A-AS2c.619T>G (p.Ser207Ala)
c.643T>G (p.Ser215Ala)
c.*134T>G (n.*134T>G)
c.208T>G (p.Ser70Ala)
c.625T>G (p.Ser209Ala)
c.637T>G (p.Ser213Ala)
c.351T>G
n.637T>G
n.879T>G
n.608T>G
c.772T>G (p.Ser258Ala)
c.487T>G (p.Ser163Ala)
n.134A>C
c.883T>G (p.Ser295Ala)
6g.10404635A>GCA362701541TFAP2A,TFAP2A-AS2c.619T>C (p.Ser207Pro)
c.643T>C (p.Ser215Pro)
c.*134T>C (n.*134T>C)
c.208T>C (p.Ser70Pro)
c.625T>C (p.Ser209Pro)
c.637T>C (p.Ser213Pro)
c.351T>C
n.637T>C
n.879T>C
n.608T>C
c.772T>C (p.Ser258Pro)
c.487T>C (p.Ser163Pro)
n.134A>G
c.883T>C (p.Ser295Pro)
6g.10404635A>TCA362701543TFAP2A,TFAP2A-AS2c.619T>A (p.Ser207Thr)
c.643T>A (p.Ser215Thr)
c.*134T>A (n.*134T>A)
c.208T>A (p.Ser70Thr)
c.625T>A (p.Ser209Thr)
c.637T>A (p.Ser213Thr)
c.351T>A
n.637T>A
n.879T>A
n.608T>A
c.772T>A (p.Ser258Thr)
c.487T>A (p.Ser163Thr)
n.134A>T
c.883T>A (p.Ser295Thr)
6g.10404636A>CCA362701545TFAP2A,TFAP2A-AS2c.618T>G (p.Cys206Trp)
c.642T>G (p.Cys214Trp)
c.*133T>G (n.*133T>G)
c.207T>G (p.Cys69Trp)
c.624T>G (p.Cys208Trp)
c.636T>G (p.Cys212Trp)
c.350T>G
n.636T>G
n.878T>G
n.607T>G
c.771T>G (p.Cys257Trp)
c.486T>G (p.Cys162Trp)
n.135A>C
c.882T>G (p.Cys294Trp)
6g.10404636A>GCA448717710TFAP2A,TFAP2A-AS2c.618T>C (p.Cys206=)
c.642T>C (p.Cys214=)
c.*133T>C (n.*133T>C)
c.207T>C (p.Cys69=)
c.624T>C (p.Cys208=)
c.636T>C (p.Cys212=)
c.350T>C
n.636T>C
n.878T>C
n.607T>C
c.771T>C (p.Cys257=)
c.486T>C (p.Cys162=)
n.135A>G
c.882T>C (p.Cys294=)
6g.10404636A>TCA362701547TFAP2A,TFAP2A-AS2c.618T>A (p.Cys206Ter)
c.642T>A (p.Cys214Ter)
c.*133T>A (n.*133T>A)
c.207T>A (p.Cys69Ter)
c.624T>A (p.Cys208Ter)
c.636T>A (p.Cys212Ter)
c.350T>A
n.636T>A
n.878T>A
n.607T>A
c.771T>A (p.Cys257Ter)
c.486T>A (p.Cys162Ter)
n.135A>T
c.882T>A (p.Cys294Ter)
6g.10404637C>ACA362701548TFAP2A,TFAP2A-AS2c.617G>T (p.Cys206Phe)
c.641G>T (p.Cys214Phe)
c.*132G>T (n.*132G>T)
c.206G>T (p.Cys69Phe)
c.623G>T (p.Cys208Phe)
c.635G>T (p.Cys212Phe)
c.349G>T
n.635G>T
n.877G>T
n.606G>T
c.770G>T (p.Cys257Phe)
c.485G>T (p.Cys162Phe)
n.136C>A
c.881G>T (p.Cys294Phe)
6g.10404637C=CA1609976775TFAP2A,TFAP2A-AS2c.617G= (p.Cys206=)
c.641G= (p.Cys214=)
c.*132G= (n.*132G=)
c.206G= (p.Cys69=)
c.623G= (p.Cys208=)
c.635G= (p.Cys212=)
c.349G=
n.635G=
n.877G=
n.606G=
c.770G= (p.Cys257=)
c.485G= (p.Cys162=)
n.136C=
c.881G= (p.Cys294=)
6g.10404637C>GCA134049179TFAP2A,TFAP2A-AS2c.617G>C (p.Cys206Ser)
c.641G>C (p.Cys214Ser)
c.*132G>C (n.*132G>C)
c.206G>C (p.Cys69Ser)
c.623G>C (p.Cys208Ser)
c.635G>C (p.Cys212Ser)
c.349G>C
n.635G>C
n.877G>C
n.606G>C
c.770G>C (p.Cys257Ser)
c.485G>C (p.Cys162Ser)
n.136C>G
c.881G>C (p.Cys294Ser)
 dbSNP
6g.10404637C>TCA362701552TFAP2A,TFAP2A-AS2c.617G>A (p.Cys206Tyr)
c.641G>A (p.Cys214Tyr)
c.*132G>A (n.*132G>A)
c.206G>A (p.Cys69Tyr)
c.623G>A (p.Cys208Tyr)
c.635G>A (p.Cys212Tyr)
c.349G>A
n.635G>A
n.877G>A
n.606G>A
c.770G>A (p.Cys257Tyr)
c.485G>A (p.Cys162Tyr)
n.136C>T
c.881G>A (p.Cys294Tyr)
 dbSNP gnomAD v4
6g.10404638A>CCA362701558TFAP2A,TFAP2A-AS2c.616T>G (p.Cys206Gly)
c.640T>G (p.Cys214Gly)
c.*131T>G (n.*131T>G)
c.205T>G (p.Cys69Gly)
c.622T>G (p.Cys208Gly)
c.634T>G (p.Cys212Gly)
c.348T>G
n.634T>G
n.876T>G
n.605T>G
c.769T>G (p.Cys257Gly)
c.484T>G (p.Cys162Gly)
n.137A>C
c.880T>G (p.Cys294Gly)
6g.10404638A>GCA362701556TFAP2A,TFAP2A-AS2c.616T>C (p.Cys206Arg)
c.640T>C (p.Cys214Arg)
c.*131T>C (n.*131T>C)
c.205T>C (p.Cys69Arg)
c.622T>C (p.Cys208Arg)
c.634T>C (p.Cys212Arg)
c.348T>C
n.634T>C
n.876T>C
n.605T>C
c.769T>C (p.Cys257Arg)
c.484T>C (p.Cys162Arg)
n.137A>G
c.880T>C (p.Cys294Arg)
6g.10404638A>TCA362701555TFAP2A,TFAP2A-AS2c.616T>A (p.Cys206Ser)
c.640T>A (p.Cys214Ser)
c.*131T>A (n.*131T>A)
c.205T>A (p.Cys69Ser)
c.622T>A (p.Cys208Ser)
c.634T>A (p.Cys212Ser)
c.348T>A
n.634T>A
n.876T>A
n.605T>A
c.769T>A (p.Cys257Ser)
c.484T>A (p.Cys162Ser)
n.137A>T
c.880T>A (p.Cys294Ser)
6g.10404639G>ACA448717716TFAP2A,TFAP2A-AS2c.615C>T (p.Phe205=)
c.639C>T (p.Phe213=)
c.*130C>T (n.*130C>T)
c.204C>T (p.Phe68=)
c.621C>T (p.Phe207=)
c.633C>T (p.Phe211=)
c.347C>T
n.633C>T
n.875C>T
n.604C>T
c.768C>T (p.Phe256=)
c.483C>T (p.Phe161=)
n.138G>A
c.879C>T (p.Phe293=)
6g.10404639G>CCA362701560TFAP2A,TFAP2A-AS2c.615C>G (p.Phe205Leu)
c.639C>G (p.Phe213Leu)
c.*130C>G (n.*130C>G)
c.204C>G (p.Phe68Leu)
c.621C>G (p.Phe207Leu)
c.633C>G (p.Phe211Leu)
c.347C>G
n.633C>G
n.875C>G
n.604C>G
c.768C>G (p.Phe256Leu)
c.483C>G (p.Phe161Leu)
n.138G>C
c.879C>G (p.Phe293Leu)
 ClinVar
6g.10404639G>TCA362701561TFAP2A,TFAP2A-AS2c.615C>A (p.Phe205Leu)
c.639C>A (p.Phe213Leu)
c.*130C>A (n.*130C>A)
c.204C>A (p.Phe68Leu)
c.621C>A (p.Phe207Leu)
c.633C>A (p.Phe211Leu)
c.347C>A
n.633C>A
n.875C>A
n.604C>A
c.768C>A (p.Phe256Leu)
c.483C>A (p.Phe161Leu)
n.138G>T
c.879C>A (p.Phe293Leu)
6g.10404640A>CCA362701563TFAP2A,TFAP2A-AS2c.614T>G (p.Phe205Cys)
c.638T>G (p.Phe213Cys)
c.*129T>G (n.*129T>G)
c.203T>G (p.Phe68Cys)
c.620T>G (p.Phe207Cys)
c.632T>G (p.Phe211Cys)
c.346T>G
n.632T>G
n.874T>G
n.603T>G
c.767T>G (p.Phe256Cys)
c.482T>G (p.Phe161Cys)
n.139A>C
c.878T>G (p.Phe293Cys)
6g.10404640A>GCA362701565TFAP2A,TFAP2A-AS2c.614T>C (p.Phe205Ser)
c.638T>C (p.Phe213Ser)
c.*129T>C (n.*129T>C)
c.203T>C (p.Phe68Ser)
c.620T>C (p.Phe207Ser)
c.632T>C (p.Phe211Ser)
c.346T>C
n.632T>C
n.874T>C
n.603T>C
c.767T>C (p.Phe256Ser)
c.482T>C (p.Phe161Ser)
n.139A>G
c.878T>C (p.Phe293Ser)
6g.10404640A>TCA362701566TFAP2A,TFAP2A-AS2c.614T>A (p.Phe205Tyr)
c.638T>A (p.Phe213Tyr)
c.*129T>A (n.*129T>A)
c.203T>A (p.Phe68Tyr)
c.620T>A (p.Phe207Tyr)
c.632T>A (p.Phe211Tyr)
c.346T>A
n.632T>A
n.874T>A
n.603T>A
c.767T>A (p.Phe256Tyr)
c.482T>A (p.Phe161Tyr)
n.139A>T
c.878T>A (p.Phe293Tyr)
6g.10404641A>CCA362701568TFAP2A,TFAP2A-AS2c.613T>G (p.Phe205Val)
c.637T>G (p.Phe213Val)
c.*128T>G (n.*128T>G)
c.202T>G (p.Phe68Val)
c.619T>G (p.Phe207Val)
c.631T>G (p.Phe211Val)
c.345T>G
n.631T>G
n.873T>G
n.602T>G
c.766T>G (p.Phe256Val)
c.481T>G (p.Phe161Val)
n.140A>C
c.877T>G (p.Phe293Val)
6g.10404641A>GCA362701570TFAP2A,TFAP2A-AS2c.613T>C (p.Phe205Leu)
c.637T>C (p.Phe213Leu)
c.*128T>C (n.*128T>C)
c.202T>C (p.Phe68Leu)
c.619T>C (p.Phe207Leu)
c.631T>C (p.Phe211Leu)
c.345T>C
n.631T>C
n.873T>C
n.602T>C
c.766T>C (p.Phe256Leu)
c.481T>C (p.Phe161Leu)
n.140A>G
c.877T>C (p.Phe293Leu)
6g.10404641A>TCA362701571TFAP2A,TFAP2A-AS2c.613T>A (p.Phe205Ile)
c.637T>A (p.Phe213Ile)
c.*128T>A (n.*128T>A)
c.202T>A (p.Phe68Ile)
c.619T>A (p.Phe207Ile)
c.631T>A (p.Phe211Ile)
c.345T>A
n.631T>A
n.873T>A
n.602T>A
c.766T>A (p.Phe256Ile)
c.481T>A (p.Phe161Ile)
n.140A>T
c.877T>A (p.Phe293Ile)
6g.10404642G>ACA448717721TFAP2A,TFAP2A-AS2c.612C>T (p.Val204=)
c.636C>T (p.Val212=)
c.*127C>T (n.*127C>T)
c.201C>T (p.Val67=)
c.618C>T (p.Val206=)
c.630C>T (p.Val210=)
c.344C>T
n.630C>T
n.872C>T
n.601C>T
c.765C>T (p.Val255=)
c.480C>T (p.Val160=)
n.141G>A
c.876C>T (p.Val292=)
6g.10404642G>CCA3631275TFAP2A,TFAP2A-AS2c.612C>G (p.Val204=)
c.636C>G (p.Val212=)
c.*127C>G (n.*127C>G)
c.201C>G (p.Val67=)
c.618C>G (p.Val206=)
c.630C>G (p.Val210=)
c.344C>G
n.630C>G
n.872C>G
n.601C>G
c.765C>G (p.Val255=)
c.480C>G (p.Val160=)
n.141G>C
c.876C>G (p.Val292=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404642G=CA1609976776TFAP2A,TFAP2A-AS2c.612C= (p.Val204=)
c.636C= (p.Val212=)
c.*127C= (n.*127C=)
c.201C= (p.Val67=)
c.618C= (p.Val206=)
c.630C= (p.Val210=)
c.344C=
n.630C=
n.872C=
n.601C=
c.765C= (p.Val255=)
c.480C= (p.Val160=)
n.141G=
c.876C= (p.Val292=)
6g.10404642G>TCA448717723TFAP2A,TFAP2A-AS2c.612C>A (p.Val204=)
c.636C>A (p.Val212=)
c.*127C>A (n.*127C>A)
c.201C>A (p.Val67=)
c.618C>A (p.Val206=)
c.630C>A (p.Val210=)
c.344C>A
n.630C>A
n.872C>A
n.601C>A
c.765C>A (p.Val255=)
c.480C>A (p.Val160=)
n.141G>T
c.876C>A (p.Val292=)
 COSMIC COSMIC
6g.10404643A>CCA362701574TFAP2A,TFAP2A-AS2c.611T>G (p.Val204Gly)
c.635T>G (p.Val212Gly)
c.*126T>G (n.*126T>G)
c.200T>G (p.Val67Gly)
c.617T>G (p.Val206Gly)
c.629T>G (p.Val210Gly)
c.343T>G
n.629T>G
n.871T>G
n.600T>G
c.764T>G (p.Val255Gly)
c.479T>G (p.Val160Gly)
n.142A>C
c.875T>G (p.Val292Gly)
 gnomAD v4
6g.10404643A>GCA362701575TFAP2A,TFAP2A-AS2c.611T>C (p.Val204Ala)
c.635T>C (p.Val212Ala)
c.*126T>C (n.*126T>C)
c.200T>C (p.Val67Ala)
c.617T>C (p.Val206Ala)
c.629T>C (p.Val210Ala)
c.343T>C
n.629T>C
n.871T>C
n.600T>C
c.764T>C (p.Val255Ala)
c.479T>C (p.Val160Ala)
n.142A>G
c.875T>C (p.Val292Ala)
6g.10404643A>TCA362701577TFAP2A,TFAP2A-AS2c.611T>A (p.Val204Asp)
c.635T>A (p.Val212Asp)
c.*126T>A (n.*126T>A)
c.200T>A (p.Val67Asp)
c.617T>A (p.Val206Asp)
c.629T>A (p.Val210Asp)
c.343T>A
n.629T>A
n.871T>A
n.600T>A
c.764T>A (p.Val255Asp)
c.479T>A (p.Val160Asp)
n.142A>T
c.875T>A (p.Val292Asp)
6g.10404644C>ACA362701581TFAP2A,TFAP2A-AS2c.610G>T (p.Val204Phe)
c.634G>T (p.Val212Phe)
c.*125G>T (n.*125G>T)
c.199G>T (p.Val67Phe)
c.616G>T (p.Val206Phe)
c.628G>T (p.Val210Phe)
c.342G>T
n.628G>T
n.870G>T
n.599G>T
c.763G>T (p.Val255Phe)
c.478G>T (p.Val160Phe)
n.143C>A
c.874G>T (p.Val292Phe)
6g.10404644C=CA1609976777TFAP2A,TFAP2A-AS2c.610G= (p.Val204=)
c.634G= (p.Val212=)
c.*125G= (n.*125G=)
c.199G= (p.Val67=)
c.616G= (p.Val206=)
c.628G= (p.Val210=)
c.342G=
n.628G=
n.870G=
n.599G=
c.763G= (p.Val255=)
c.478G= (p.Val160=)
n.143C=
c.874G= (p.Val292=)
6g.10404644C>GCA3631276TFAP2A,TFAP2A-AS2c.610G>C (p.Val204Leu)
c.634G>C (p.Val212Leu)
c.*125G>C (n.*125G>C)
c.199G>C (p.Val67Leu)
c.616G>C (p.Val206Leu)
c.628G>C (p.Val210Leu)
c.342G>C
n.628G>C
n.870G>C
n.599G>C
c.763G>C (p.Val255Leu)
c.478G>C (p.Val160Leu)
n.143C>G
c.874G>C (p.Val292Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404644C>TCA362701579TFAP2A,TFAP2A-AS2c.610G>A (p.Val204Ile)
c.634G>A (p.Val212Ile)
c.*125G>A (n.*125G>A)
c.199G>A (p.Val67Ile)
c.616G>A (p.Val206Ile)
c.628G>A (p.Val210Ile)
c.342G>A
n.628G>A
n.870G>A
n.599G>A
c.763G>A (p.Val255Ile)
c.478G>A (p.Val160Ile)
n.143C>T
c.874G>A (p.Val292Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.10404645T>ACA362701583TFAP2A,TFAP2A-AS2c.609A>T (p.Glu203Asp)
c.633A>T (p.Glu211Asp)
c.*124A>T (n.*124A>T)
c.198A>T (p.Glu66Asp)
c.615A>T (p.Glu205Asp)
c.627A>T (p.Glu209Asp)
c.341A>T
n.627A>T
n.869A>T
n.598A>T
c.762A>T (p.Glu254Asp)
c.477A>T (p.Glu159Asp)
n.144T>A
c.873A>T (p.Glu291Asp)
6g.10404645T>CCA448717728TFAP2A,TFAP2A-AS2c.609A>G (p.Glu203=)
c.633A>G (p.Glu211=)
c.*124A>G (n.*124A>G)
c.198A>G (p.Glu66=)
c.615A>G (p.Glu205=)
c.627A>G (p.Glu209=)
c.341A>G
n.627A>G
n.869A>G
n.598A>G
c.762A>G (p.Glu254=)
c.477A>G (p.Glu159=)
n.144T>C
c.873A>G (p.Glu291=)
 dbSNP
6g.10404645T>GCA362701585TFAP2A,TFAP2A-AS2c.609A>C (p.Glu203Asp)
c.633A>C (p.Glu211Asp)
c.*124A>C (n.*124A>C)
c.198A>C (p.Glu66Asp)
c.615A>C (p.Glu205Asp)
c.627A>C (p.Glu209Asp)
c.341A>C
n.627A>C
n.869A>C
n.598A>C
c.762A>C (p.Glu254Asp)
c.477A>C (p.Glu159Asp)
n.144T>G
c.873A>C (p.Glu291Asp)
6g.10404645T=CA1609976778TFAP2A,TFAP2A-AS2c.609A= (p.Glu203=)
c.633A= (p.Glu211=)
c.*124A= (n.*124A=)
c.198A= (p.Glu66=)
c.615A= (p.Glu205=)
c.627A= (p.Glu209=)
c.341A=
n.627A=
n.869A=
n.598A=
c.762A= (p.Glu254=)
c.477A= (p.Glu159=)
n.144T=
c.873A= (p.Glu291=)
6g.10404646T>ACA362701587TFAP2A,TFAP2A-AS2c.608A>T (p.Glu203Val)
c.632A>T (p.Glu211Val)
c.*123A>T (n.*123A>T)
c.197A>T (p.Glu66Val)
c.614A>T (p.Glu205Val)
c.626A>T (p.Glu209Val)
c.340A>T
n.626A>T
n.868A>T
n.597A>T
c.761A>T (p.Glu254Val)
c.476A>T (p.Glu159Val)
n.145T>A
c.872A>T (p.Glu291Val)
6g.10404646T>CCA362701590TFAP2A,TFAP2A-AS2c.608A>G (p.Glu203Gly)
c.632A>G (p.Glu211Gly)
c.*123A>G (n.*123A>G)
c.197A>G (p.Glu66Gly)
c.614A>G (p.Glu205Gly)
c.626A>G (p.Glu209Gly)
c.340A>G
n.626A>G
n.868A>G
n.597A>G
c.761A>G (p.Glu254Gly)
c.476A>G (p.Glu159Gly)
n.145T>C
c.872A>G (p.Glu291Gly)
6g.10404646T>GCA362701589TFAP2A,TFAP2A-AS2c.608A>C (p.Glu203Ala)
c.632A>C (p.Glu211Ala)
c.*123A>C (n.*123A>C)
c.197A>C (p.Glu66Ala)
c.614A>C (p.Glu205Ala)
c.626A>C (p.Glu209Ala)
c.340A>C
n.626A>C
n.868A>C
n.597A>C
c.761A>C (p.Glu254Ala)
c.476A>C (p.Glu159Ala)
n.145T>G
c.872A>C (p.Glu291Ala)
6g.10404647C>ACA362701593TFAP2A,TFAP2A-AS2c.607G>T (p.Glu203Ter)
c.631G>T (p.Glu211Ter)
c.*122G>T (n.*122G>T)
c.196G>T (p.Glu66Ter)
c.613G>T (p.Glu205Ter)
c.625G>T (p.Glu209Ter)
c.339G>T
n.625G>T
n.867G>T
n.596G>T
c.760G>T (p.Glu254Ter)
c.475G>T (p.Glu159Ter)
n.146C>A
c.871G>T (p.Glu291Ter)
6g.10404647C>GCA362701596TFAP2A,TFAP2A-AS2c.607G>C (p.Glu203Gln)
c.631G>C (p.Glu211Gln)
c.*122G>C (n.*122G>C)
c.196G>C (p.Glu66Gln)
c.613G>C (p.Glu205Gln)
c.625G>C (p.Glu209Gln)
c.339G>C
n.625G>C
n.867G>C
n.596G>C
c.760G>C (p.Glu254Gln)
c.475G>C (p.Glu159Gln)
n.146C>G
c.871G>C (p.Glu291Gln)
6g.10404647C>TCA362701595TFAP2A,TFAP2A-AS2c.607G>A (p.Glu203Lys)
c.631G>A (p.Glu211Lys)
c.*122G>A (n.*122G>A)
c.196G>A (p.Glu66Lys)
c.613G>A (p.Glu205Lys)
c.625G>A (p.Glu209Lys)
c.339G>A
n.625G>A
n.867G>A
n.596G>A
c.760G>A (p.Glu254Lys)
c.475G>A (p.Glu159Lys)
n.146C>T
c.871G>A (p.Glu291Lys)
 COSMIC COSMIC COSMIC
6g.10404648G>ACA448717743TFAP2A,TFAP2A-AS2c.606C>T (p.Asn202=)
c.630C>T (p.Asn210=)
c.*121C>T (n.*121C>T)
c.195C>T (p.Asn65=)
c.612C>T (p.Asn204=)
c.624C>T (p.Asn208=)
c.338C>T
n.624C>T
n.866C>T
n.595C>T
c.759C>T (p.Asn253=)
c.474C>T (p.Asn158=)
n.147G>A
c.870C>T (p.Asn290=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404648G>CCA362701599TFAP2A,TFAP2A-AS2c.606C>G (p.Asn202Lys)
c.630C>G (p.Asn210Lys)
c.*121C>G (n.*121C>G)
c.195C>G (p.Asn65Lys)
c.612C>G (p.Asn204Lys)
c.624C>G (p.Asn208Lys)
c.338C>G
n.624C>G
n.866C>G
n.595C>G
c.759C>G (p.Asn253Lys)
c.474C>G (p.Asn158Lys)
n.147G>C
c.870C>G (p.Asn290Lys)
 gnomAD v4
6g.10404648G=CA1609976779TFAP2A,TFAP2A-AS2c.606C= (p.Asn202=)
c.630C= (p.Asn210=)
c.*121C= (n.*121C=)
c.195C= (p.Asn65=)
c.612C= (p.Asn204=)
c.624C= (p.Asn208=)
c.338C=
n.624C=
n.866C=
n.595C=
c.759C= (p.Asn253=)
c.474C= (p.Asn158=)
n.147G=
c.870C= (p.Asn290=)
6g.10404648G>TCA362701601TFAP2A,TFAP2A-AS2c.606C>A (p.Asn202Lys)
c.630C>A (p.Asn210Lys)
c.*121C>A (n.*121C>A)
c.195C>A (p.Asn65Lys)
c.612C>A (p.Asn204Lys)
c.624C>A (p.Asn208Lys)
c.338C>A
n.624C>A
n.866C>A
n.595C>A
c.759C>A (p.Asn253Lys)
c.474C>A (p.Asn158Lys)
n.147G>T
c.870C>A (p.Asn290Lys)
6g.10404649T>ACA362701603TFAP2A,TFAP2A-AS2c.605A>T (p.Asn202Ile)
c.629A>T (p.Asn210Ile)
c.*120A>T (n.*120A>T)
c.194A>T (p.Asn65Ile)
c.611A>T (p.Asn204Ile)
c.623A>T (p.Asn208Ile)
c.337A>T
n.623A>T
n.865A>T
n.594A>T
c.758A>T (p.Asn253Ile)
c.473A>T (p.Asn158Ile)
n.148T>A
c.869A>T (p.Asn290Ile)
6g.10404649T>CCA3631277TFAP2A,TFAP2A-AS2c.605A>G (p.Asn202Ser)
c.629A>G (p.Asn210Ser)
c.*120A>G (n.*120A>G)
c.194A>G (p.Asn65Ser)
c.611A>G (p.Asn204Ser)
c.623A>G (p.Asn208Ser)
c.337A>G
n.623A>G
n.865A>G
n.594A>G
c.758A>G (p.Asn253Ser)
c.473A>G (p.Asn158Ser)
n.148T>C
c.869A>G (p.Asn290Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404649T>GCA134049192TFAP2A,TFAP2A-AS2c.605A>C (p.Asn202Thr)
c.629A>C (p.Asn210Thr)
c.*120A>C (n.*120A>C)
c.194A>C (p.Asn65Thr)
c.611A>C (p.Asn204Thr)
c.623A>C (p.Asn208Thr)
c.337A>C
n.623A>C
n.865A>C
n.594A>C
c.758A>C (p.Asn253Thr)
c.473A>C (p.Asn158Thr)
n.148T>G
c.869A>C (p.Asn290Thr)
 dbSNP
6g.10404649T=CA1609976780TFAP2A,TFAP2A-AS2c.605A= (p.Asn202=)
c.629A= (p.Asn210=)
c.*120A= (n.*120A=)
c.194A= (p.Asn65=)
c.611A= (p.Asn204=)
c.623A= (p.Asn208=)
c.337A=
n.623A=
n.865A=
n.594A=
c.758A= (p.Asn253=)
c.473A= (p.Asn158=)
n.148T=
c.869A= (p.Asn290=)
6g.10404650T>ACA362701606TFAP2A,TFAP2A-AS2c.604A>T (p.Asn202Tyr)
c.628A>T (p.Asn210Tyr)
c.*119A>T (n.*119A>T)
c.193A>T (p.Asn65Tyr)
c.610A>T (p.Asn204Tyr)
c.622A>T (p.Asn208Tyr)
c.336A>T
n.622A>T
n.864A>T
n.593A>T
c.757A>T (p.Asn253Tyr)
c.472A>T (p.Asn158Tyr)
n.149T>A
c.868A>T (p.Asn290Tyr)
6g.10404650T>CCA362701608TFAP2A,TFAP2A-AS2c.604A>G (p.Asn202Asp)
c.628A>G (p.Asn210Asp)
c.*119A>G (n.*119A>G)
c.193A>G (p.Asn65Asp)
c.610A>G (p.Asn204Asp)
c.622A>G (p.Asn208Asp)
c.336A>G
n.622A>G
n.864A>G
n.593A>G
c.757A>G (p.Asn253Asp)
c.472A>G (p.Asn158Asp)
n.149T>C
c.868A>G (p.Asn290Asp)
6g.10404650T>GCA362701610TFAP2A,TFAP2A-AS2c.604A>C (p.Asn202His)
c.628A>C (p.Asn210His)
c.*119A>C (n.*119A>C)
c.193A>C (p.Asn65His)
c.610A>C (p.Asn204His)
c.622A>C (p.Asn208His)
c.336A>C
n.622A>C
n.864A>C
n.593A>C
c.757A>C (p.Asn253His)
c.472A>C (p.Asn158His)
n.149T>G
c.868A>C (p.Asn290His)
6g.10404651G>ACA448717747TFAP2A,TFAP2A-AS2c.603C>T (p.Pro201=)
c.627C>T (p.Pro209=)
c.*118C>T (n.*118C>T)
c.192C>T (p.Pro64=)
c.609C>T (p.Pro203=)
c.621C>T (p.Pro207=)
c.335C>T
n.621C>T
n.863C>T
n.592C>T
c.756C>T (p.Pro252=)
c.471C>T (p.Pro157=)
n.150G>A
c.867C>T (p.Pro289=)
6g.10404651G>CCA448717748TFAP2A,TFAP2A-AS2c.603C>G (p.Pro201=)
c.627C>G (p.Pro209=)
c.*118C>G (n.*118C>G)
c.192C>G (p.Pro64=)
c.609C>G (p.Pro203=)
c.621C>G (p.Pro207=)
c.335C>G
n.621C>G
n.863C>G
n.592C>G
c.756C>G (p.Pro252=)
c.471C>G (p.Pro157=)
n.150G>C
c.867C>G (p.Pro289=)
6g.10404651G>TCA448717750TFAP2A,TFAP2A-AS2c.603C>A (p.Pro201=)
c.627C>A (p.Pro209=)
c.*118C>A (n.*118C>A)
c.192C>A (p.Pro64=)
c.609C>A (p.Pro203=)
c.621C>A (p.Pro207=)
c.335C>A
n.621C>A
n.863C>A
n.592C>A
c.756C>A (p.Pro252=)
c.471C>A (p.Pro157=)
n.150G>T
c.867C>A (p.Pro289=)
6g.10404652G>ACA362701612TFAP2A,TFAP2A-AS2c.602C>T (p.Pro201Leu)
c.626C>T (p.Pro209Leu)
c.*117C>T (n.*117C>T)
c.191C>T (p.Pro64Leu)
c.608C>T (p.Pro203Leu)
c.620C>T (p.Pro207Leu)
c.334C>T
n.620C>T
n.862C>T
n.591C>T
c.755C>T (p.Pro252Leu)
c.470C>T (p.Pro157Leu)
n.151G>A
c.866C>T (p.Pro289Leu)
 gnomAD v4
6g.10404652G>CCA362701614TFAP2A,TFAP2A-AS2c.602C>G (p.Pro201Arg)
c.626C>G (p.Pro209Arg)
c.*117C>G (n.*117C>G)
c.191C>G (p.Pro64Arg)
c.608C>G (p.Pro203Arg)
c.620C>G (p.Pro207Arg)
c.334C>G
n.620C>G
n.862C>G
n.591C>G
c.755C>G (p.Pro252Arg)
c.470C>G (p.Pro157Arg)
n.151G>C
c.866C>G (p.Pro289Arg)
 COSMIC COSMIC COSMIC
6g.10404652G>TCA362701616TFAP2A,TFAP2A-AS2c.602C>A (p.Pro201His)
c.626C>A (p.Pro209His)
c.*117C>A (n.*117C>A)
c.191C>A (p.Pro64His)
c.608C>A (p.Pro203His)
c.620C>A (p.Pro207His)
c.334C>A
n.620C>A
n.862C>A
n.591C>A
c.755C>A (p.Pro252His)
c.470C>A (p.Pro157His)
n.151G>T
c.866C>A (p.Pro289His)
6g.10404653G>ACA362701618TFAP2A,TFAP2A-AS2c.601C>T (p.Pro201Ser)
c.625C>T (p.Pro209Ser)
c.*116C>T (n.*116C>T)
c.190C>T (p.Pro64Ser)
c.607C>T (p.Pro203Ser)
c.619C>T (p.Pro207Ser)
c.333C>T
n.619C>T
n.861C>T
n.590C>T
c.754C>T (p.Pro252Ser)
c.469C>T (p.Pro157Ser)
n.152G>A
c.865C>T (p.Pro289Ser)
6g.10404653G>CCA362701620TFAP2A,TFAP2A-AS2c.601C>G (p.Pro201Ala)
c.625C>G (p.Pro209Ala)
c.*116C>G (n.*116C>G)
c.190C>G (p.Pro64Ala)
c.607C>G (p.Pro203Ala)
c.619C>G (p.Pro207Ala)
c.333C>G
n.619C>G
n.861C>G
n.590C>G
c.754C>G (p.Pro252Ala)
c.469C>G (p.Pro157Ala)
n.152G>C
c.865C>G (p.Pro289Ala)
6g.10404653G>TCA362701625TFAP2A,TFAP2A-AS2c.601C>A (p.Pro201Thr)
c.625C>A (p.Pro209Thr)
c.*116C>A (n.*116C>A)
c.190C>A (p.Pro64Thr)
c.607C>A (p.Pro203Thr)
c.619C>A (p.Pro207Thr)
c.333C>A
n.619C>A
n.861C>A
n.590C>A
c.754C>A (p.Pro252Thr)
c.469C>A (p.Pro157Thr)
n.152G>T
c.865C>A (p.Pro289Thr)
6g.10404654G>ACA448717755TFAP2A,TFAP2A-AS2c.600C>T (p.Asn200=)
c.624C>T (p.Asn208=)
c.*115C>T (n.*115C>T)
c.189C>T (p.Asn63=)
c.606C>T (p.Asn202=)
c.618C>T (p.Asn206=)
c.332C>T
n.618C>T
n.860C>T
n.589C>T
c.753C>T (p.Asn251=)
c.468C>T (p.Asn156=)
n.153G>A
c.864C>T (p.Asn288=)
6g.10404654G>CCA362701629TFAP2A,TFAP2A-AS2c.600C>G (p.Asn200Lys)
c.624C>G (p.Asn208Lys)
c.*115C>G (n.*115C>G)
c.189C>G (p.Asn63Lys)
c.606C>G (p.Asn202Lys)
c.618C>G (p.Asn206Lys)
c.332C>G
n.618C>G
n.860C>G
n.589C>G
c.753C>G (p.Asn251Lys)
c.468C>G (p.Asn156Lys)
n.153G>C
c.864C>G (p.Asn288Lys)
6g.10404654G>TCA362701627TFAP2A,TFAP2A-AS2c.600C>A (p.Asn200Lys)
c.624C>A (p.Asn208Lys)
c.*115C>A (n.*115C>A)
c.189C>A (p.Asn63Lys)
c.606C>A (p.Asn202Lys)
c.618C>A (p.Asn206Lys)
c.332C>A
n.618C>A
n.860C>A
n.589C>A
c.753C>A (p.Asn251Lys)
c.468C>A (p.Asn156Lys)
n.153G>T
c.864C>A (p.Asn288Lys)
6g.10404655T>ACA362701631TFAP2A,TFAP2A-AS2c.599A>T (p.Asn200Ile)
c.623A>T (p.Asn208Ile)
c.*114A>T (n.*114A>T)
c.188A>T (p.Asn63Ile)
c.605A>T (p.Asn202Ile)
c.617A>T (p.Asn206Ile)
c.331A>T
n.617A>T
n.859A>T
n.588A>T
c.752A>T (p.Asn251Ile)
c.467A>T (p.Asn156Ile)
n.154T>A
c.863A>T (p.Asn288Ile)
6g.10404655T>CCA362701632TFAP2A,TFAP2A-AS2c.599A>G (p.Asn200Ser)
c.623A>G (p.Asn208Ser)
c.*114A>G (n.*114A>G)
c.188A>G (p.Asn63Ser)
c.605A>G (p.Asn202Ser)
c.617A>G (p.Asn206Ser)
c.331A>G
n.617A>G
n.859A>G
n.588A>G
c.752A>G (p.Asn251Ser)
c.467A>G (p.Asn156Ser)
n.154T>C
c.863A>G (p.Asn288Ser)
 gnomAD v4
6g.10404655T>GCA362701634TFAP2A,TFAP2A-AS2c.599A>C (p.Asn200Thr)
c.623A>C (p.Asn208Thr)
c.*114A>C (n.*114A>C)
c.188A>C (p.Asn63Thr)
c.605A>C (p.Asn202Thr)
c.617A>C (p.Asn206Thr)
c.331A>C
n.617A>C
n.859A>C
n.588A>C
c.752A>C (p.Asn251Thr)
c.467A>C (p.Asn156Thr)
n.154T>G
c.863A>C (p.Asn288Thr)
6g.10404656T>ACA362701636TFAP2A,TFAP2A-AS2c.598A>T (p.Asn200Tyr)
c.622A>T (p.Asn208Tyr)
c.*113A>T (n.*113A>T)
c.187A>T (p.Asn63Tyr)
c.604A>T (p.Asn202Tyr)
c.616A>T (p.Asn206Tyr)
c.330A>T
n.616A>T
n.858A>T
n.587A>T
c.751A>T (p.Asn251Tyr)
c.466A>T (p.Asn156Tyr)
n.155T>A
c.862A>T (p.Asn288Tyr)
6g.10404656T>CCA362701638TFAP2A,TFAP2A-AS2c.598A>G (p.Asn200Asp)
c.622A>G (p.Asn208Asp)
c.*113A>G (n.*113A>G)
c.187A>G (p.Asn63Asp)
c.604A>G (p.Asn202Asp)
c.616A>G (p.Asn206Asp)
c.330A>G
n.616A>G
n.858A>G
n.587A>G
c.751A>G (p.Asn251Asp)
c.466A>G (p.Asn156Asp)
n.155T>C
c.862A>G (p.Asn288Asp)
6g.10404656T>GCA362701639TFAP2A,TFAP2A-AS2c.598A>C (p.Asn200His)
c.622A>C (p.Asn208His)
c.*113A>C (n.*113A>C)
c.187A>C (p.Asn63His)
c.604A>C (p.Asn202His)
c.616A>C (p.Asn206His)
c.330A>C
n.616A>C
n.858A>C
n.587A>C
c.751A>C (p.Asn251His)
c.466A>C (p.Asn156His)
n.155T>G
c.862A>C (p.Asn288His)
6g.10404656_10404659delinsTCACCA1609976781TFAP2A,TFAP2A-AS2c.595_598delinsGTGA (p.Val199=)
c.619_622delinsGTGA (p.Val207=)
c.*110_*113delinsGTGA (n.*110_*113delinsGTGA)
c.184_187delinsGTGA (p.Val62=)
c.601_604delinsGTGA (p.Val201=)
c.613_616delinsGTGA (p.Val205=)
c.327_330delinsGTGA
n.613_616delinsGTGA
n.855_858delinsGTGA
n.584_587delinsGTGA
c.748_751delinsGTGA (p.Val250=)
c.463_466delinsGTGA (p.Val155=)
n.155_158delinsTCAC
c.859_862delinsGTGA (p.Val287=)
6g.10404657C>ACA448717761TFAP2A,TFAP2A-AS2c.597G>T (p.Val199=)
c.621G>T (p.Val207=)
c.*112G>T (n.*112G>T)
c.186G>T (p.Val62=)
c.603G>T (p.Val201=)
c.615G>T (p.Val205=)
c.329G>T
n.615G>T
n.857G>T
n.586G>T
c.750G>T (p.Val250=)
c.465G>T (p.Val155=)
n.156C>A
c.861G>T (p.Val287=)
6g.10404657C=CA1609976782TFAP2A,TFAP2A-AS2c.597G= (p.Val199=)
c.621G= (p.Val207=)
c.*112G= (n.*112G=)
c.186G= (p.Val62=)
c.603G= (p.Val201=)
c.615G= (p.Val205=)
c.329G=
n.615G=
n.857G=
n.586G=
c.750G= (p.Val250=)
c.465G= (p.Val155=)
n.156C=
c.861G= (p.Val287=)
6g.10404657C>GCA448717762TFAP2A,TFAP2A-AS2c.597G>C (p.Val199=)
c.621G>C (p.Val207=)
c.*112G>C (n.*112G>C)
c.186G>C (p.Val62=)
c.603G>C (p.Val201=)
c.615G>C (p.Val205=)
c.329G>C
n.615G>C
n.857G>C
n.586G>C
c.750G>C (p.Val250=)
c.465G>C (p.Val155=)
n.156C>G
c.861G>C (p.Val287=)
6g.10404657C>TCA448717764TFAP2A,TFAP2A-AS2c.597G>A (p.Val199=)
c.621G>A (p.Val207=)
c.*112G>A (n.*112G>A)
c.186G>A (p.Val62=)
c.603G>A (p.Val201=)
c.615G>A (p.Val205=)
c.329G>A
n.615G>A
n.857G>A
n.586G>A
c.750G>A (p.Val250=)
c.465G>A (p.Val155=)
n.156C>T
c.861G>A (p.Val287=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404660_10404662delCA565486578TFAP2A,TFAP2A-AS2c.595_597del (p.Val199del)
c.619_621del (p.Val207del)
c.*110_*112del (n.*110_*112del)
c.184_186del (p.Val62del)
c.601_603del (p.Val201del)
c.613_615del (p.Val205del)
c.327_329del
n.613_615del
n.855_857del
n.584_586del
c.748_750del (p.Val250del)
c.463_465del (p.Val155del)
n.159_161del
c.859_861del (p.Val287del)
 dbSNP gnomAD v2
6g.10404658A>CCA362701640TFAP2A,TFAP2A-AS2c.596T>G (p.Val199Gly)
c.620T>G (p.Val207Gly)
c.*111T>G (n.*111T>G)
c.185T>G (p.Val62Gly)
c.602T>G (p.Val201Gly)
c.614T>G (p.Val205Gly)
c.328T>G
n.614T>G
n.856T>G
n.585T>G
c.749T>G (p.Val250Gly)
c.464T>G (p.Val155Gly)
n.157A>C
c.860T>G (p.Val287Gly)
6g.10404658A>GCA362701641TFAP2A,TFAP2A-AS2c.596T>C (p.Val199Ala)
c.620T>C (p.Val207Ala)
c.*111T>C (n.*111T>C)
c.185T>C (p.Val62Ala)
c.602T>C (p.Val201Ala)
c.614T>C (p.Val205Ala)
c.328T>C
n.614T>C
n.856T>C
n.585T>C
c.749T>C (p.Val250Ala)
c.464T>C (p.Val155Ala)
n.157A>G
c.860T>C (p.Val287Ala)
 gnomAD v4
6g.10404658A>TCA362701642TFAP2A,TFAP2A-AS2c.596T>A (p.Val199Glu)
c.620T>A (p.Val207Glu)
c.*111T>A (n.*111T>A)
c.185T>A (p.Val62Glu)
c.602T>A (p.Val201Glu)
c.614T>A (p.Val205Glu)
c.328T>A
n.614T>A
n.856T>A
n.585T>A
c.749T>A (p.Val250Glu)
c.464T>A (p.Val155Glu)
n.157A>T
c.860T>A (p.Val287Glu)
6g.10404659C>ACA362701643TFAP2A,TFAP2A-AS2c.595G>T (p.Val199Leu)
c.619G>T (p.Val207Leu)
c.*110G>T (n.*110G>T)
c.184G>T (p.Val62Leu)
c.601G>T (p.Val201Leu)
c.613G>T (p.Val205Leu)
c.327G>T
n.613G>T
n.855G>T
n.584G>T
c.748G>T (p.Val250Leu)
c.463G>T (p.Val155Leu)
n.158C>A
c.859G>T (p.Val287Leu)
6g.10404659C=CA1609976783TFAP2A,TFAP2A-AS2c.595G= (p.Val199=)
c.619G= (p.Val207=)
c.*110G= (n.*110G=)
c.184G= (p.Val62=)
c.601G= (p.Val201=)
c.613G= (p.Val205=)
c.327G=
n.613G=
n.855G=
n.584G=
c.748G= (p.Val250=)
c.463G= (p.Val155=)
n.158C=
c.859G= (p.Val287=)
6g.10404659C>GCA362701644TFAP2A,TFAP2A-AS2c.595G>C (p.Val199Leu)
c.619G>C (p.Val207Leu)
c.*110G>C (n.*110G>C)
c.184G>C (p.Val62Leu)
c.601G>C (p.Val201Leu)
c.613G>C (p.Val205Leu)
c.327G>C
n.613G>C
n.855G>C
n.584G>C
c.748G>C (p.Val250Leu)
c.463G>C (p.Val155Leu)
n.158C>G
c.859G>C (p.Val287Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.10404659C>TCA362701646TFAP2A,TFAP2A-AS2c.595G>A (p.Val199Met)
c.619G>A (p.Val207Met)
c.*110G>A (n.*110G>A)
c.184G>A (p.Val62Met)
c.601G>A (p.Val201Met)
c.613G>A (p.Val205Met)
c.327G>A
n.613G>A
n.855G>A
n.584G>A
c.748G>A (p.Val250Met)
c.463G>A (p.Val155Met)
n.158C>T
c.859G>A (p.Val287Met)
 dbSNP gnomAD v3 gnomAD v4
6g.10404660C>ACA448717768TFAP2A,TFAP2A-AS2c.594G>T (p.Val198=)
c.618G>T (p.Val206=)
c.*109G>T (n.*109G>T)
c.183G>T (p.Val61=)
c.600G>T (p.Val200=)
c.612G>T (p.Val204=)
c.326G>T
n.612G>T
n.854G>T
n.583G>T
c.747G>T (p.Val249=)
c.462G>T (p.Val154=)
n.159C>A
c.858G>T (p.Val286=)
 gnomAD v4
6g.10404660C>GCA448717770TFAP2A,TFAP2A-AS2c.594G>C (p.Val198=)
c.618G>C (p.Val206=)
c.*109G>C (n.*109G>C)
c.183G>C (p.Val61=)
c.600G>C (p.Val200=)
c.612G>C (p.Val204=)
c.326G>C
n.612G>C
n.854G>C
n.583G>C
c.747G>C (p.Val249=)
c.462G>C (p.Val154=)
n.159C>G
c.858G>C (p.Val286=)
6g.10404660C>TCA448717772TFAP2A,TFAP2A-AS2c.594G>A (p.Val198=)
c.618G>A (p.Val206=)
c.*109G>A (n.*109G>A)
c.183G>A (p.Val61=)
c.600G>A (p.Val200=)
c.612G>A (p.Val204=)
c.326G>A
n.612G>A
n.854G>A
n.583G>A
c.747G>A (p.Val249=)
c.462G>A (p.Val154=)
n.159C>T
c.858G>A (p.Val286=)
6g.10404661A>CCA362701651TFAP2A,TFAP2A-AS2c.593T>G (p.Val198Gly)
c.617T>G (p.Val206Gly)
c.*108T>G (n.*108T>G)
c.182T>G (p.Val61Gly)
c.599T>G (p.Val200Gly)
c.611T>G (p.Val204Gly)
c.325T>G
n.611T>G
n.853T>G
n.582T>G
c.746T>G (p.Val249Gly)
c.461T>G (p.Val154Gly)
n.160A>C
c.857T>G (p.Val286Gly)
6g.10404661A>GCA362701649TFAP2A,TFAP2A-AS2c.593T>C (p.Val198Ala)
c.617T>C (p.Val206Ala)
c.*108T>C (n.*108T>C)
c.182T>C (p.Val61Ala)
c.599T>C (p.Val200Ala)
c.611T>C (p.Val204Ala)
c.325T>C
n.611T>C
n.853T>C
n.582T>C
c.746T>C (p.Val249Ala)
c.461T>C (p.Val154Ala)
n.160A>G
c.857T>C (p.Val286Ala)
6g.10404661A>TCA362701647TFAP2A,TFAP2A-AS2c.593T>A (p.Val198Glu)
c.617T>A (p.Val206Glu)
c.*108T>A (n.*108T>A)
c.182T>A (p.Val61Glu)
c.599T>A (p.Val200Glu)
c.611T>A (p.Val204Glu)
c.325T>A
n.611T>A
n.853T>A
n.582T>A
c.746T>A (p.Val249Glu)
c.461T>A (p.Val154Glu)
n.160A>T
c.857T>A (p.Val286Glu)
6g.10404662C>ACA362701653TFAP2A,TFAP2A-AS2c.592G>T (p.Val198Leu)
c.616G>T (p.Val206Leu)
c.*107G>T (n.*107G>T)
c.181G>T (p.Val61Leu)
c.598G>T (p.Val200Leu)
c.610G>T (p.Val204Leu)
c.324G>T
n.610G>T
n.852G>T
n.581G>T
c.745G>T (p.Val249Leu)
c.460G>T (p.Val154Leu)
n.161C>A
c.856G>T (p.Val286Leu)
6g.10404662C=CA1609976784TFAP2A,TFAP2A-AS2c.592G= (p.Val198=)
c.616G= (p.Val206=)
c.*107G= (n.*107G=)
c.181G= (p.Val61=)
c.598G= (p.Val200=)
c.610G= (p.Val204=)
c.324G=
n.610G=
n.852G=
n.581G=
c.745G= (p.Val249=)
c.460G= (p.Val154=)
n.161C=
c.856G= (p.Val286=)
6g.10404662C>GCA362701654TFAP2A,TFAP2A-AS2c.592G>C (p.Val198Leu)
c.616G>C (p.Val206Leu)
c.*107G>C (n.*107G>C)
c.181G>C (p.Val61Leu)
c.598G>C (p.Val200Leu)
c.610G>C (p.Val204Leu)
c.324G>C
n.610G>C
n.852G>C
n.581G>C
c.745G>C (p.Val249Leu)
c.460G>C (p.Val154Leu)
n.161C>G
c.856G>C (p.Val286Leu)
6g.10404662C>TCA362701657TFAP2A,TFAP2A-AS2c.592G>A (p.Val198Met)
c.616G>A (p.Val206Met)
c.*107G>A (n.*107G>A)
c.181G>A (p.Val61Met)
c.598G>A (p.Val200Met)
c.610G>A (p.Val204Met)
c.324G>A
n.610G>A
n.852G>A
n.581G>A
c.745G>A (p.Val249Met)
c.460G>A (p.Val154Met)
n.161C>T
c.856G>A (p.Val286Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404663G>ACA448717779TFAP2A,TFAP2A-AS2c.591C>T (p.Gly197=)
c.615C>T (p.Gly205=)
c.*106C>T (n.*106C>T)
c.180C>T (p.Gly60=)
c.597C>T (p.Gly199=)
c.609C>T (p.Gly203=)
c.323C>T
n.609C>T
n.851C>T
n.580C>T
c.744C>T (p.Gly248=)
c.459C>T (p.Gly153=)
n.162G>A
c.855C>T (p.Gly285=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404663G>CCA448717781TFAP2A,TFAP2A-AS2c.591C>G (p.Gly197=)
c.615C>G (p.Gly205=)
c.*106C>G (n.*106C>G)
c.180C>G (p.Gly60=)
c.597C>G (p.Gly199=)
c.609C>G (p.Gly203=)
c.323C>G
n.609C>G
n.851C>G
n.580C>G
c.744C>G (p.Gly248=)
c.459C>G (p.Gly153=)
n.162G>C
c.855C>G (p.Gly285=)
6g.10404663G=CA1609976785TFAP2A,TFAP2A-AS2c.591C= (p.Gly197=)
c.615C= (p.Gly205=)
c.*106C= (n.*106C=)
c.180C= (p.Gly60=)
c.597C= (p.Gly199=)
c.609C= (p.Gly203=)
c.323C=
n.609C=
n.851C=
n.580C=
c.744C= (p.Gly248=)
c.459C= (p.Gly153=)
n.162G=
c.855C= (p.Gly285=)
6g.10404663G>TCA448717784TFAP2A,TFAP2A-AS2c.591C>A (p.Gly197=)
c.615C>A (p.Gly205=)
c.*106C>A (n.*106C>A)
c.180C>A (p.Gly60=)
c.597C>A (p.Gly199=)
c.609C>A (p.Gly203=)
c.323C>A
n.609C>A
n.851C>A
n.580C>A
c.744C>A (p.Gly248=)
c.459C>A (p.Gly153=)
n.162G>T
c.855C>A (p.Gly285=)

Number of alleles fetched