Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.10404565del | CA645560345 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404565_10404576del | CA2580074210 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404565C>A | CA362701259 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404565C>G | CA362701261 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404565C>T | CA362701263 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404566G>A | CA362701265 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404566G>C | CA362701267 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404566G= | CA1609976750 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404566G>T | CA448717602 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404567C>A | CA362701268 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404567C>G | CA362701270 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404567C>T | CA448717603 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404568T>A | CA362701276 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404568T>C | CA362701274 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404568T>G | CA362701273 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404568T= | CA1609976751 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404569G>A | CA362701277 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404569G>C | CA362701279 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404569G>T | CA362701281 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404570C>A | CA448717605 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404570C= | CA1609976752 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404570C>G | CA448717608 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404570C>T | CA448717606 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404571A>C | CA362701283 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404571A>G | CA362701285 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404571A>T | CA362701286 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404572C>A | CA362701289 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404572C>G | CA362701291 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404572C>T | CA362701292 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404573T>A | CA362701294 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404573T>C | CA448717610 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404573T>G | CA362701296 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404574dup | CA645560346 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404574T>A | CA362701298 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404574T>C | CA362701300 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404574T>G | CA362701302 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404575C>A | CA362701306 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404575C= | CA1609976753 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404575C>G | CA362701308 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404575C>T | CA362701304 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404576C>A | CA448717611 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404576C= | CA1609976754 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404576C>G | CA448717612 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404576C>T | CA134049094 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404577G>A | CA362701311 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404577G>C | CA362701312 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404577G>T | CA362701314 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404578C>A | CA362701316 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404578C= | CA1609976755 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404578C>G | CA362701318 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404578C>T | CA362701320 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404579C>A | CA448717613 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404579C>G | CA448717614 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404579C>T | CA448717615 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404580A>C | CA362701322 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404580A>G | CA362701324 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404580A>T | CA362701326 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404583_10404588del | CA2695205973 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404581C>A | CA362701328 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404581C>G | CA362701329 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404581C>T | CA362701330 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404582dup | CA2841274593 | TFAP2A,TFAP2A-AS2 | c.673dup (p.Val225GlyfsTer29) c.697dup (p.Val233GlyfsTer29) c.*188dup (n.*188dup) c.262dup (p.Val88GlyfsTer29) c.679dup (p.Val227GlyfsTer29) c.14dup c.691dup (p.Val231GlyfsTer29) c.405dup n.691dup n.662dup c.826dup (p.Val276GlyfsTer29) c.541dup (p.Val181GlyfsTer29) n.81dup c.937dup (p.Val313GlyfsTer29) | |
6 | g.10404582C>A | CA448717616 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404582C= | CA1609976756 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404582C>G | CA448717618 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404582C>T | CA448717617 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404583G>A | CA362701336 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404583G>C | CA362701332 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404583G= | CA1609976757 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404583G>T | CA362701334 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404584T>A | CA362701338 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404584T>C | CA362701340 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404584T>G | CA362701342 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404585G>A | CA448717620 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404585G>C | CA3631269 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404585G= | CA1609976758 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404585G>T | CA448717621 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404586A>C | CA362701345 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404586A>G | CA362701346 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404586A>T | CA362701348 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404587C>A | CA362701350 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404587C= | CA1609976759 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404587C>G | CA362701352 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404587C>T | CA3631270 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404588C>A | CA362701355 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404588C= | CA1609976760 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404588C>G | CA362701357 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404588C>T | CA448717622 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404589T>A | CA362701361 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404589T>C | CA362701362 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404589T>G | CA362701359 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404590T>A | CA362701364 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404590T>C | CA362701368 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404590T>G | CA362701366 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404591G>A | CA448717623 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404591G>C | CA362701370 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404591G>T | CA362701372 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404592T>A | CA362701374 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404592T>C | CA362701376 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404592T>G | CA362701377 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404593A>C | CA362701379 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404593A>G | CA362701381 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404593A>T | CA362701383 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404594C>A | CA362701385 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404594C= | CA1609976761 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404594C>G | CA362701387 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404594C>T | CA134049110 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404595T>A | CA362701389 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404595T>C | CA362701391 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404595T>G | CA362701392 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404596T>A | CA362701394 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404596T>C | CA362701398 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404596T>G | CA362701396 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404597C>A | CA448717626 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404597C= | CA1609976762 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404597C>G | CA448717628 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404597C>T | CA3631271 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404598G>A | CA362701401 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404598G>C | CA362701403 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404598G>T | CA362701404 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404599A= | CA1609976763 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404599A>C | CA362701407 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404599A>G | CA3631272 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404599A>T | CA362701409 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404600G>A | CA448717630 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404600G>C | CA448717631 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404600G>T | CA448717632 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404601G>A | CA362701411 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404601G>C | CA362701413 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404601G= | CA1609976764 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404601G>T | CA362701415 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404602T>A | CA362701420 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404602T>C | CA362701418 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404602T>G | CA362701417 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404603G>A | CA448717637 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404603G>C | CA448717638 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404603G= | CA1609976765 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404603G>T | CA448717639 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404604G>A | CA362701425 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404604G>C | CA362701422 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404604G>T | CA362701424 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404605A>C | CA362701427 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404605A>G | CA362701429 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404605A>T | CA362701431 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404606G>A | CA448717643 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404606G>C | CA362701433 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404606G>T | CA362701434 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404607C>A | CA362701436 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404607C>G | CA362701438 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404607C>T | CA362701440 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404608T>A | CA362701442 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404608T>C | CA362701444 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404608T>G | CA362701446 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404609G>A | CA448717650 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404609G>C | CA448717651 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404609G>T | CA448717652 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404610A>C | CA362701452 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404610A>G | CA362701448 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404610A>T | CA362701450 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404611G>A | CA362701453 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404611G>C | CA362701454 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404611G>T | CA362701456 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404612G>A | CA448717658 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404612G>C | CA448717659 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404612G= | CA1609976766 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404612G>T | CA448717657 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404613A>C | CA362701458 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404613A>G | CA362701459 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404613A>T | CA362701461 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404614G>A | CA362701463 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404614G>C | CA362701465 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404614G>T | CA362701466 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404615C>A | CA448717666 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404615C= | CA1609976767 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404615C>G | CA448717667 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404615C>T | CA448717668 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404616G>A | CA362701468 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404616G>C | CA362701470 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404616G>T | CA362701472 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404617A>C | CA362701476 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404617A>G | CA362701478 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404617A>T | CA362701474 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404618G>A | CA3631273 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404618G>C | CA448717672 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404618G= | CA1609976768 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404618G>T | CA448717671 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404619A>C | CA362701479 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404619A>G | CA362701481 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404619A>T | CA362701483 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404620G>A | CA362701485 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404620G>C | CA362701487 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404620G>T | CA362701489 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404621G>A | CA3631274 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404621G>C | CA448717679 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404621G= | CA1609976769 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404621G>T | CA448717680 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404622C>A | CA362701491 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404622C= | CA1609976770 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404622C>G | CA362701493 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404622C>T | CA362701495 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404623G>A | CA362701497 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404623G>C | CA362701498 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404623G= | CA1609976771 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404623G>T | CA004715 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404624A>C | CA448717684 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404624A>G | CA448717685 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404624A>T | CA448717686 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404625C>A | CA362701505 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404625C>G | CA362701501 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404625C>T | CA362701503 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404626C>A | CA362701507 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404626C>G | CA362701508 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404626C>T | CA362701510 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404627C>A | CA448717689 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404627C>G | CA448717690 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404627C>T | CA448717691 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404628G>A | CA362701512 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404628G>C | CA362701514 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404628G>T | CA362701516 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404629G>A | CA362701518 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404629G>C | CA362701520 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404629G>T | CA362701522 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404630A>C | CA448717698 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404630A>G | CA448717699 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404630A>T | CA448717700 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404631A= | CA1609976772 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404631A>C | CA362701524 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404631A>G | CA362701526 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404631A>T | CA004709 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404632C>A | CA362701529 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404632C= | CA1609976773 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404632C>G | CA362701532 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404632C>T | CA362701531 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404633T>A | CA448717706 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404633T>C | CA448717704 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404633T>G | CA448717703 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404634G>A | CA134049170 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404634G>C | CA362701536 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404634G= | CA1609976774 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404634G>T | CA362701537 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404635A>C | CA362701539 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404635A>G | CA362701541 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404635A>T | CA362701543 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404636A>C | CA362701545 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404636A>G | CA448717710 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404636A>T | CA362701547 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404637C>A | CA362701548 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404637C= | CA1609976775 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404637C>G | CA134049179 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404637C>T | CA362701552 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404638A>C | CA362701558 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404638A>G | CA362701556 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404638A>T | CA362701555 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404639G>A | CA448717716 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404639G>C | CA362701560 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404639G>T | CA362701561 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404640A>C | CA362701563 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404640A>G | CA362701565 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404640A>T | CA362701566 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404641A>C | CA362701568 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404641A>G | CA362701570 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404641A>T | CA362701571 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404642G>A | CA448717721 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404642G>C | CA3631275 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404642G= | CA1609976776 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404642G>T | CA448717723 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404643A>C | CA362701574 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404643A>G | CA362701575 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404643A>T | CA362701577 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404644C>A | CA362701581 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404644C= | CA1609976777 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404644C>G | CA3631276 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404644C>T | CA362701579 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404645T>A | CA362701583 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404645T>C | CA448717728 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404645T>G | CA362701585 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404645T= | CA1609976778 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404646T>A | CA362701587 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404646T>C | CA362701590 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404646T>G | CA362701589 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404647C>A | CA362701593 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404647C>G | CA362701596 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404647C>T | CA362701595 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404648G>A | CA448717743 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404648G>C | CA362701599 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404648G= | CA1609976779 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404648G>T | CA362701601 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404649T>A | CA362701603 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404649T>C | CA3631277 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404649T>G | CA134049192 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404649T= | CA1609976780 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404650T>A | CA362701606 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404650T>C | CA362701608 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404650T>G | CA362701610 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404651G>A | CA448717747 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404651G>C | CA448717748 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404651G>T | CA448717750 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404652G>A | CA362701612 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404652G>C | CA362701614 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404652G>T | CA362701616 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404653G>A | CA362701618 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404653G>C | CA362701620 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404653G>T | CA362701625 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404654G>A | CA448717755 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404654G>C | CA362701629 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404654G>T | CA362701627 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404655T>A | CA362701631 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404655T>C | CA362701632 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404655T>G | CA362701634 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404656T>A | CA362701636 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404656T>C | CA362701638 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404656T>G | CA362701639 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404656_10404659delinsTCAC | CA1609976781 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404657C>A | CA448717761 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404657C= | CA1609976782 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404657C>G | CA448717762 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404657C>T | CA448717764 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404660_10404662del | CA565486578 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404658A>C | CA362701640 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404658A>G | CA362701641 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404658A>T | CA362701642 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404659C>A | CA362701643 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404659C= | CA1609976783 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404659C>G | CA362701644 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404659C>T | CA362701646 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404660dup | CA2841615709 | TFAP2A,TFAP2A-AS2 | c.595dup (p.Val199GlyfsTer?) c.619dup (p.Val207GlyfsTer?) c.*110dup (n.*110dup) c.184dup (p.Val62GlyfsTer?) c.601dup (p.Val201GlyfsTer?) c.613dup (p.Val205GlyfsTer?) c.327dup n.613dup n.855dup n.584dup c.748dup (p.Val250GlyfsTer?) c.463dup (p.Val155GlyfsTer?) n.159dup c.859dup (p.Val287GlyfsTer?) | |
6 | g.10404660C>A | CA448717768 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404660C>G | CA448717770 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404660C>T | CA448717772 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404661A>C | CA362701651 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404661A>G | CA362701649 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404661A>T | CA362701647 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404662C>A | CA362701653 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404662C= | CA1609976784 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404662C>G | CA362701654 | TFAP2A,TFAP2A-AS2 | c.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) | |
6 | g.10404662C>T | CA362701657 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404663G>A | CA448717779 | TFAP2A,TFAP2A-AS2 | c.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 |
6 | g.10404663G>C | CA448717781 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404663G= | CA1609976785 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404663G>T | CA448717784 | TFAP2A,TFAP2A-AS2 | c.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=) | |
6 | g.10404664C>A | CA362701658 | TFAP2A,TFAP2A-AS2 | c.590G>T (p.Gly197Val) c.614G>T (p.Gly205Val) c.*105G>T (n.*105G>T) c.179G>T (p.Gly60Val) c.596G>T (p.Gly199Val) c.608G>T (p.Gly203Val) c.322G>T n.608G>T n.850G>T n.579G>T c.743G>T (p.Gly248Val) c.458G>T (p.Gly153Val) n.163C>A c.854G>T (p.Gly285Val) | |
6 | g.10404664C= | CA1609976786 | TFAP2A,TFAP2A-AS2 | c.590G= (p.Gly197=) c.614G= (p.Gly205=) c.*105G= (n.*105G=) c.179G= (p.Gly60=) c.596G= (p.Gly199=) c.608G= (p.Gly203=) c.322G= n.608G= n.850G= n.579G= c.743G= (p.Gly248=) c.458G= (p.Gly153=) n.163C= c.854G= (p.Gly285=) | |
6 | g.10404664C>G | CA362701659 | TFAP2A,TFAP2A-AS2 | c.590G>C (p.Gly197Ala) c.614G>C (p.Gly205Ala) c.*105G>C (n.*105G>C) c.179G>C (p.Gly60Ala) c.596G>C (p.Gly199Ala) c.608G>C (p.Gly203Ala) c.322G>C n.608G>C n.850G>C n.579G>C c.743G>C (p.Gly248Ala) c.458G>C (p.Gly153Ala) n.163C>G c.854G>C (p.Gly285Ala) | gnomAD v4 |
6 | g.10404664C>T | CA3631278 | TFAP2A,TFAP2A-AS2 | c.590G>A (p.Gly197Asp) c.614G>A (p.Gly205Asp) c.*105G>A (n.*105G>A) c.179G>A (p.Gly60Asp) c.596G>A (p.Gly199Asp) c.608G>A (p.Gly203Asp) c.322G>A n.608G>A n.850G>A n.579G>A c.743G>A (p.Gly248Asp) c.458G>A (p.Gly153Asp) n.163C>T c.854G>A (p.Gly285Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404665C>A | CA362701662 | TFAP2A,TFAP2A-AS2 | c.589G>T (p.Gly197Cys) c.613G>T (p.Gly205Cys) c.*104G>T (n.*104G>T) c.178G>T (p.Gly60Cys) c.595G>T (p.Gly199Cys) c.607G>T (p.Gly203Cys) c.321G>T n.607G>T n.849G>T n.578G>T c.742G>T (p.Gly248Cys) c.457G>T (p.Gly153Cys) n.164C>A c.853G>T (p.Gly285Cys) | |
6 | g.10404665C= | CA1609976787 | TFAP2A,TFAP2A-AS2 | c.589G= (p.Gly197=) c.613G= (p.Gly205=) c.*104G= (n.*104G=) c.178G= (p.Gly60=) c.595G= (p.Gly199=) c.607G= (p.Gly203=) c.321G= n.607G= n.849G= n.578G= c.742G= (p.Gly248=) c.457G= (p.Gly153=) n.164C= c.853G= (p.Gly285=) | |
6 | g.10404665C>G | CA362701664 | TFAP2A,TFAP2A-AS2 | c.589G>C (p.Gly197Arg) c.613G>C (p.Gly205Arg) c.*104G>C (n.*104G>C) c.178G>C (p.Gly60Arg) c.595G>C (p.Gly199Arg) c.607G>C (p.Gly203Arg) c.321G>C n.607G>C n.849G>C n.578G>C c.742G>C (p.Gly248Arg) c.457G>C (p.Gly153Arg) n.164C>G c.853G>C (p.Gly285Arg) | dbSNP |
6 | g.10404665C>T | CA362701666 | TFAP2A,TFAP2A-AS2 | c.589G>A (p.Gly197Ser) c.613G>A (p.Gly205Ser) c.*104G>A (n.*104G>A) c.178G>A (p.Gly60Ser) c.595G>A (p.Gly199Ser) c.607G>A (p.Gly203Ser) c.321G>A n.607G>A n.849G>A n.578G>A c.742G>A (p.Gly248Ser) c.457G>A (p.Gly153Ser) n.164C>T c.853G>A (p.Gly285Ser) |