UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.10404531C>A | CA448717465 | TFAP2A,TFAP2A-AS2 | c.723G>T (p.Ser241=) c.747G>T (p.Ser249=) c.*238G>T (n.*238G>T) c.312G>T (p.Ser104=) c.729G>T (p.Ser243=) c.64G>T c.741G>T (p.Ser247=) c.455G>T n.741G>T n.712G>T c.876G>T (p.Ser292=) c.591G>T (p.Ser197=) n.30C>A c.987G>T (p.Ser329=) | |
| 6 | g.10404531C= | CA1609976730 | TFAP2A,TFAP2A-AS2 | c.723G= (p.Ser241=) c.747G= (p.Ser249=) c.*238G= (n.*238G=) c.312G= (p.Ser104=) c.729G= (p.Ser243=) c.64G= c.741G= (p.Ser247=) c.455G= n.741G= n.712G= c.876G= (p.Ser292=) c.591G= (p.Ser197=) n.30C= c.987G= (p.Ser329=) | |
| 6 | g.10404531C>G | CA448717467 | TFAP2A,TFAP2A-AS2 | c.723G>C (p.Ser241=) c.747G>C (p.Ser249=) c.*238G>C (n.*238G>C) c.312G>C (p.Ser104=) c.729G>C (p.Ser243=) c.64G>C c.741G>C (p.Ser247=) c.455G>C n.741G>C n.712G>C c.876G>C (p.Ser292=) c.591G>C (p.Ser197=) n.30C>G c.987G>C (p.Ser329=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.10404531C>T | CA448717468 | TFAP2A,TFAP2A-AS2 | c.723G>A (p.Ser241=) c.747G>A (p.Ser249=) c.*238G>A (n.*238G>A) c.312G>A (p.Ser104=) c.729G>A (p.Ser243=) c.64G>A c.741G>A (p.Ser247=) c.455G>A n.741G>A n.712G>A c.876G>A (p.Ser292=) c.591G>A (p.Ser197=) n.30C>T c.987G>A (p.Ser329=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.10404532G>A | CA362701178 | TFAP2A,TFAP2A-AS2 | c.722C>T (p.Ser241Leu) c.746C>T (p.Ser249Leu) c.*237C>T (n.*237C>T) c.311C>T (p.Ser104Leu) c.728C>T (p.Ser243Leu) c.63C>T c.740C>T (p.Ser247Leu) c.454C>T n.740C>T n.711C>T c.875C>T (p.Ser292Leu) c.590C>T (p.Ser197Leu) n.31G>A c.986C>T (p.Ser329Leu) | |
| 6 | g.10404532G>C | CA362701179 | TFAP2A,TFAP2A-AS2 | c.722C>G (p.Ser241Trp) c.746C>G (p.Ser249Trp) c.*237C>G (n.*237C>G) c.311C>G (p.Ser104Trp) c.728C>G (p.Ser243Trp) c.63C>G c.740C>G (p.Ser247Trp) c.454C>G n.740C>G n.711C>G c.875C>G (p.Ser292Trp) c.590C>G (p.Ser197Trp) n.31G>C c.986C>G (p.Ser329Trp) | |
| 6 | g.10404532G>T | CA362701180 | TFAP2A,TFAP2A-AS2 | c.722C>A (p.Ser241Ter) c.746C>A (p.Ser249Ter) c.*237C>A (n.*237C>A) c.311C>A (p.Ser104Ter) c.728C>A (p.Ser243Ter) c.63C>A c.740C>A (p.Ser247Ter) c.454C>A n.740C>A n.711C>A c.875C>A (p.Ser292Ter) c.590C>A (p.Ser197Ter) n.31G>T c.986C>A (p.Ser329Ter) | |
| 6 | g.10404533A>C | CA362701183 | TFAP2A,TFAP2A-AS2 | c.721T>G (p.Ser241Ala) c.745T>G (p.Ser249Ala) c.*236T>G (n.*236T>G) c.310T>G (p.Ser104Ala) c.727T>G (p.Ser243Ala) c.62T>G c.739T>G (p.Ser247Ala) c.453T>G n.739T>G n.710T>G c.874T>G (p.Ser292Ala) c.589T>G (p.Ser197Ala) n.32A>C c.985T>G (p.Ser329Ala) | |
| 6 | g.10404533A>G | CA362701182 | TFAP2A,TFAP2A-AS2 | c.721T>C (p.Ser241Pro) c.745T>C (p.Ser249Pro) c.*236T>C (n.*236T>C) c.310T>C (p.Ser104Pro) c.727T>C (p.Ser243Pro) c.62T>C c.739T>C (p.Ser247Pro) c.453T>C n.739T>C n.710T>C c.874T>C (p.Ser292Pro) c.589T>C (p.Ser197Pro) n.32A>G c.985T>C (p.Ser329Pro) | |
| 6 | g.10404533A>T | CA362701181 | TFAP2A,TFAP2A-AS2 | c.721T>A (p.Ser241Thr) c.745T>A (p.Ser249Thr) c.*236T>A (n.*236T>A) c.310T>A (p.Ser104Thr) c.727T>A (p.Ser243Thr) c.62T>A c.739T>A (p.Ser247Thr) c.453T>A n.739T>A n.710T>A c.874T>A (p.Ser292Thr) c.589T>A (p.Ser197Thr) n.32A>T c.985T>A (p.Ser329Thr) | |
| 6 | g.10404534C>A | CA448717469 | TFAP2A,TFAP2A-AS2 | c.720G>T (p.Ala240=) c.744G>T (p.Ala248=) c.*235G>T (n.*235G>T) c.309G>T (p.Ala103=) c.726G>T (p.Ala242=) c.61G>T c.738G>T (p.Ala246=) c.452G>T n.738G>T n.709G>T c.873G>T (p.Ala291=) c.588G>T (p.Ala196=) n.33C>A c.984G>T (p.Ala328=) | |
| 6 | g.10404534C= | CA1609976731 | TFAP2A,TFAP2A-AS2 | c.720G= (p.Ala240=) c.744G= (p.Ala248=) c.*235G= (n.*235G=) c.309G= (p.Ala103=) c.726G= (p.Ala242=) c.61G= c.738G= (p.Ala246=) c.452G= n.738G= n.709G= c.873G= (p.Ala291=) c.588G= (p.Ala196=) n.33C= c.984G= (p.Ala328=) | |
| 6 | g.10404534C>G | CA448717470 | TFAP2A,TFAP2A-AS2 | c.720G>C (p.Ala240=) c.744G>C (p.Ala248=) c.*235G>C (n.*235G>C) c.309G>C (p.Ala103=) c.726G>C (p.Ala242=) c.61G>C c.738G>C (p.Ala246=) c.452G>C n.738G>C n.709G>C c.873G>C (p.Ala291=) c.588G>C (p.Ala196=) n.33C>G c.984G>C (p.Ala328=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.10404534C>T | CA448717471 | TFAP2A,TFAP2A-AS2 | c.720G>A (p.Ala240=) c.744G>A (p.Ala248=) c.*235G>A (n.*235G>A) c.309G>A (p.Ala103=) c.726G>A (p.Ala242=) c.61G>A c.738G>A (p.Ala246=) c.452G>A n.738G>A n.709G>A c.873G>A (p.Ala291=) c.588G>A (p.Ala196=) n.33C>T c.984G>A (p.Ala328=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.10404535G>A | CA362701184 | TFAP2A,TFAP2A-AS2 | c.719C>T (p.Ala240Val) c.743C>T (p.Ala248Val) c.*234C>T (n.*234C>T) c.308C>T (p.Ala103Val) c.725C>T (p.Ala242Val) c.60C>T c.737C>T (p.Ala246Val) c.451C>T n.737C>T n.708C>T c.872C>T (p.Ala291Val) c.587C>T (p.Ala196Val) n.34G>A c.983C>T (p.Ala328Val) | |
| 6 | g.10404535G>C | CA362701186 | TFAP2A,TFAP2A-AS2 | c.719C>G (p.Ala240Gly) c.743C>G (p.Ala248Gly) c.*234C>G (n.*234C>G) c.308C>G (p.Ala103Gly) c.725C>G (p.Ala242Gly) c.60C>G c.737C>G (p.Ala246Gly) c.451C>G n.737C>G n.708C>G c.872C>G (p.Ala291Gly) c.587C>G (p.Ala196Gly) n.34G>C c.983C>G (p.Ala328Gly) | |
| 6 | g.10404535G>T | CA362701185 | TFAP2A,TFAP2A-AS2 | c.719C>A (p.Ala240Glu) c.743C>A (p.Ala248Glu) c.*234C>A (n.*234C>A) c.308C>A (p.Ala103Glu) c.725C>A (p.Ala242Glu) c.60C>A c.737C>A (p.Ala246Glu) c.451C>A n.737C>A n.708C>A c.872C>A (p.Ala291Glu) c.587C>A (p.Ala196Glu) n.34G>T c.983C>A (p.Ala328Glu) | ClinVar |
| 6 | g.10404536C>A | CA362701187 | TFAP2A,TFAP2A-AS2 | c.718G>T (p.Ala240Ser) c.742G>T (p.Ala248Ser) c.*233G>T (n.*233G>T) c.307G>T (p.Ala103Ser) c.724G>T (p.Ala242Ser) c.59G>T c.736G>T (p.Ala246Ser) c.450G>T n.736G>T n.707G>T c.871G>T (p.Ala291Ser) c.586G>T (p.Ala196Ser) n.35C>A c.982G>T (p.Ala328Ser) | |
| 6 | g.10404536C>G | CA362701189 | TFAP2A,TFAP2A-AS2 | c.718G>C (p.Ala240Pro) c.742G>C (p.Ala248Pro) c.*233G>C (n.*233G>C) c.307G>C (p.Ala103Pro) c.724G>C (p.Ala242Pro) c.59G>C c.736G>C (p.Ala246Pro) c.450G>C n.736G>C n.707G>C c.871G>C (p.Ala291Pro) c.586G>C (p.Ala196Pro) n.35C>G c.982G>C (p.Ala328Pro) | |
| 6 | g.10404536C>T | CA362701188 | TFAP2A,TFAP2A-AS2 | c.718G>A (p.Ala240Thr) c.742G>A (p.Ala248Thr) c.*233G>A (n.*233G>A) c.307G>A (p.Ala103Thr) c.724G>A (p.Ala242Thr) c.59G>A c.736G>A (p.Ala246Thr) c.450G>A n.736G>A n.707G>A c.871G>A (p.Ala291Thr) c.586G>A (p.Ala196Thr) n.35C>T c.982G>A (p.Ala328Thr) | ClinVar gnomAD v4 |
| 6 | g.10404537G>A | CA448717472 | TFAP2A,TFAP2A-AS2 | c.717C>T (p.Asn239=) c.741C>T (p.Asn247=) c.*232C>T (n.*232C>T) c.306C>T (p.Asn102=) c.723C>T (p.Asn241=) c.58C>T c.735C>T (p.Asn245=) c.449C>T n.735C>T n.706C>T c.870C>T (p.Asn290=) c.585C>T (p.Asn195=) n.36G>A c.981C>T (p.Asn327=) | dbSNP gnomAD v4 |
| 6 | g.10404537G>C | CA362701190 | TFAP2A,TFAP2A-AS2 | c.717C>G (p.Asn239Lys) c.741C>G (p.Asn247Lys) c.*232C>G (n.*232C>G) c.306C>G (p.Asn102Lys) c.723C>G (p.Asn241Lys) c.58C>G c.735C>G (p.Asn245Lys) c.449C>G n.735C>G n.706C>G c.870C>G (p.Asn290Lys) c.585C>G (p.Asn195Lys) n.36G>C c.981C>G (p.Asn327Lys) | |
| 6 | g.10404537G= | CA1609976732 | TFAP2A,TFAP2A-AS2 | c.717C= (p.Asn239=) c.741C= (p.Asn247=) c.*232C= (n.*232C=) c.306C= (p.Asn102=) c.723C= (p.Asn241=) c.58C= c.735C= (p.Asn245=) c.449C= n.735C= n.706C= c.870C= (p.Asn290=) c.585C= (p.Asn195=) n.36G= c.981C= (p.Asn327=) | |
| 6 | g.10404537G>T | CA362701191 | TFAP2A,TFAP2A-AS2 | c.717C>A (p.Asn239Lys) c.741C>A (p.Asn247Lys) c.*232C>A (n.*232C>A) c.306C>A (p.Asn102Lys) c.723C>A (p.Asn241Lys) c.58C>A c.735C>A (p.Asn245Lys) c.449C>A n.735C>A n.706C>A c.870C>A (p.Asn290Lys) c.585C>A (p.Asn195Lys) n.36G>T c.981C>A (p.Asn327Lys) | |
| 6 | g.10404538T>A | CA362701192 | TFAP2A,TFAP2A-AS2 | c.716A>T (p.Asn239Ile) c.740A>T (p.Asn247Ile) c.*231A>T (n.*231A>T) c.305A>T (p.Asn102Ile) c.722A>T (p.Asn241Ile) c.57A>T c.734A>T (p.Asn245Ile) c.448A>T n.734A>T n.705A>T c.869A>T (p.Asn290Ile) c.584A>T (p.Asn195Ile) n.37T>A c.980A>T (p.Asn327Ile) | |
| 6 | g.10404538T>C | CA362701193 | TFAP2A,TFAP2A-AS2 | c.716A>G (p.Asn239Ser) c.740A>G (p.Asn247Ser) c.*231A>G (n.*231A>G) c.305A>G (p.Asn102Ser) c.722A>G (p.Asn241Ser) c.57A>G c.734A>G (p.Asn245Ser) c.448A>G n.734A>G n.705A>G c.869A>G (p.Asn290Ser) c.584A>G (p.Asn195Ser) n.37T>C c.980A>G (p.Asn327Ser) | |
| 6 | g.10404538T>G | CA362701194 | TFAP2A,TFAP2A-AS2 | c.716A>C (p.Asn239Thr) c.740A>C (p.Asn247Thr) c.*231A>C (n.*231A>C) c.305A>C (p.Asn102Thr) c.722A>C (p.Asn241Thr) c.57A>C c.734A>C (p.Asn245Thr) c.448A>C n.734A>C n.705A>C c.869A>C (p.Asn290Thr) c.584A>C (p.Asn195Thr) n.37T>G c.980A>C (p.Asn327Thr) | |
| 6 | g.10404539T>A | CA362701195 | TFAP2A,TFAP2A-AS2 | c.715A>T (p.Asn239Tyr) c.739A>T (p.Asn247Tyr) c.*230A>T (n.*230A>T) c.304A>T (p.Asn102Tyr) c.721A>T (p.Asn241Tyr) c.56A>T c.733A>T (p.Asn245Tyr) c.447A>T n.733A>T n.704A>T c.868A>T (p.Asn290Tyr) c.583A>T (p.Asn195Tyr) n.38T>A c.979A>T (p.Asn327Tyr) | |
| 6 | g.10404539T>C | CA362701196 | TFAP2A,TFAP2A-AS2 | c.715A>G (p.Asn239Asp) c.739A>G (p.Asn247Asp) c.*230A>G (n.*230A>G) c.304A>G (p.Asn102Asp) c.721A>G (p.Asn241Asp) c.56A>G c.733A>G (p.Asn245Asp) c.447A>G n.733A>G n.704A>G c.868A>G (p.Asn290Asp) c.583A>G (p.Asn195Asp) n.38T>C c.979A>G (p.Asn327Asp) | ClinVar dbSNP |
| 6 | g.10404539T>G | CA362701197 | TFAP2A,TFAP2A-AS2 | c.715A>C (p.Asn239His) c.739A>C (p.Asn247His) c.*230A>C (n.*230A>C) c.304A>C (p.Asn102His) c.721A>C (p.Asn241His) c.56A>C c.733A>C (p.Asn245His) c.447A>C n.733A>C n.704A>C c.868A>C (p.Asn290His) c.583A>C (p.Asn195His) n.38T>G c.979A>C (p.Asn327His) | gnomAD v4 |
| 6 | g.10404540G>A | CA448717477 | TFAP2A,TFAP2A-AS2 | c.714C>T (p.Leu238=) c.738C>T (p.Leu246=) c.*229C>T (n.*229C>T) c.303C>T (p.Leu101=) c.720C>T (p.Leu240=) c.55C>T c.732C>T (p.Leu244=) c.446C>T n.732C>T n.703C>T c.867C>T (p.Leu289=) c.582C>T (p.Leu194=) n.39G>A c.978C>T (p.Leu326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.10404540G>C | CA448717474 | TFAP2A,TFAP2A-AS2 | c.714C>G (p.Leu238=) c.738C>G (p.Leu246=) c.*229C>G (n.*229C>G) c.303C>G (p.Leu101=) c.720C>G (p.Leu240=) c.55C>G c.732C>G (p.Leu244=) c.446C>G n.732C>G n.703C>G c.867C>G (p.Leu289=) c.582C>G (p.Leu194=) n.39G>C c.978C>G (p.Leu326=) | dbSNP gnomAD v4 |
| 6 | g.10404540G= | CA1609976733 | TFAP2A,TFAP2A-AS2 | c.714C= (p.Leu238=) c.738C= (p.Leu246=) c.*229C= (n.*229C=) c.303C= (p.Leu101=) c.720C= (p.Leu240=) c.55C= c.732C= (p.Leu244=) c.446C= n.732C= n.703C= c.867C= (p.Leu289=) c.582C= (p.Leu194=) n.39G= c.978C= (p.Leu326=) | |
| 6 | g.10404540G>T | CA448717475 | TFAP2A,TFAP2A-AS2 | c.714C>A (p.Leu238=) c.738C>A (p.Leu246=) c.*229C>A (n.*229C>A) c.303C>A (p.Leu101=) c.720C>A (p.Leu240=) c.55C>A c.732C>A (p.Leu244=) c.446C>A n.732C>A n.703C>A c.867C>A (p.Leu289=) c.582C>A (p.Leu194=) n.39G>T c.978C>A (p.Leu326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.10404541A>C | CA362701198 | TFAP2A,TFAP2A-AS2 | c.713T>G (p.Leu238Arg) c.737T>G (p.Leu246Arg) c.*228T>G (n.*228T>G) c.302T>G (p.Leu101Arg) c.719T>G (p.Leu240Arg) c.54T>G c.731T>G (p.Leu244Arg) c.445T>G n.731T>G n.702T>G c.866T>G (p.Leu289Arg) c.581T>G (p.Leu194Arg) n.40A>C c.977T>G (p.Leu326Arg) | |
| 6 | g.10404541A>G | CA362701199 | TFAP2A,TFAP2A-AS2 | c.713T>C (p.Leu238Pro) c.737T>C (p.Leu246Pro) c.*228T>C (n.*228T>C) c.302T>C (p.Leu101Pro) c.719T>C (p.Leu240Pro) c.54T>C c.731T>C (p.Leu244Pro) c.445T>C n.731T>C n.702T>C c.866T>C (p.Leu289Pro) c.581T>C (p.Leu194Pro) n.40A>G c.977T>C (p.Leu326Pro) | |
| 6 | g.10404541A>T | CA362701200 | TFAP2A,TFAP2A-AS2 | c.713T>A (p.Leu238His) c.737T>A (p.Leu246His) c.*228T>A (n.*228T>A) c.302T>A (p.Leu101His) c.719T>A (p.Leu240His) c.54T>A c.731T>A (p.Leu244His) c.445T>A n.731T>A n.702T>A c.866T>A (p.Leu289His) c.581T>A (p.Leu194His) n.40A>T c.977T>A (p.Leu326His) | |
| 6 | g.10404542G>A | CA362701202 | TFAP2A,TFAP2A-AS2 | c.712C>T (p.Leu238Phe) c.736C>T (p.Leu246Phe) c.*227C>T (n.*227C>T) c.301C>T (p.Leu101Phe) c.718C>T (p.Leu240Phe) c.53C>T c.730C>T (p.Leu244Phe) c.444C>T n.730C>T n.701C>T c.865C>T (p.Leu289Phe) c.580C>T (p.Leu194Phe) n.41G>A c.976C>T (p.Leu326Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.10404542G>C | CA362701201 | TFAP2A,TFAP2A-AS2 | c.712C>G (p.Leu238Val) c.736C>G (p.Leu246Val) c.*227C>G (n.*227C>G) c.301C>G (p.Leu101Val) c.718C>G (p.Leu240Val) c.53C>G c.730C>G (p.Leu244Val) c.444C>G n.730C>G n.701C>G c.865C>G (p.Leu289Val) c.580C>G (p.Leu194Val) n.41G>C c.976C>G (p.Leu326Val) | |
| 6 | g.10404542G= | CA1609976734 | TFAP2A,TFAP2A-AS2 | c.712C= (p.Leu238=) c.736C= (p.Leu246=) c.*227C= (n.*227C=) c.301C= (p.Leu101=) c.718C= (p.Leu240=) c.53C= c.730C= (p.Leu244=) c.444C= n.730C= n.701C= c.865C= (p.Leu289=) c.580C= (p.Leu194=) n.41G= c.976C= (p.Leu326=) | |
| 6 | g.10404542G>T | CA134049049 | TFAP2A,TFAP2A-AS2 | c.712C>A (p.Leu238Ile) c.736C>A (p.Leu246Ile) c.*227C>A (n.*227C>A) c.301C>A (p.Leu101Ile) c.718C>A (p.Leu240Ile) c.53C>A c.730C>A (p.Leu244Ile) c.444C>A n.730C>A n.701C>A c.865C>A (p.Leu289Ile) c.580C>A (p.Leu194Ile) n.41G>T c.976C>A (p.Leu326Ile) | dbSNP |
| 6 | g.10404543A>C | CA362701203 | TFAP2A,TFAP2A-AS2 | c.711T>G (p.Cys237Trp) c.735T>G (p.Cys245Trp) c.*226T>G (n.*226T>G) c.300T>G (p.Cys100Trp) c.717T>G (p.Cys239Trp) c.52T>G c.729T>G (p.Cys243Trp) c.443T>G n.729T>G n.700T>G c.864T>G (p.Cys288Trp) c.579T>G (p.Cys193Trp) n.42A>C c.975T>G (p.Cys325Trp) | |
| 6 | g.10404543A>G | CA448717493 | TFAP2A,TFAP2A-AS2 | c.711T>C (p.Cys237=) c.735T>C (p.Cys245=) c.*226T>C (n.*226T>C) c.300T>C (p.Cys100=) c.717T>C (p.Cys239=) c.52T>C c.729T>C (p.Cys243=) c.443T>C n.729T>C n.700T>C c.864T>C (p.Cys288=) c.579T>C (p.Cys193=) n.42A>G c.975T>C (p.Cys325=) | |
| 6 | g.10404543A>T | CA362701204 | TFAP2A,TFAP2A-AS2 | c.711T>A (p.Cys237Ter) c.735T>A (p.Cys245Ter) c.*226T>A (n.*226T>A) c.300T>A (p.Cys100Ter) c.717T>A (p.Cys239Ter) c.52T>A c.729T>A (p.Cys243Ter) c.443T>A n.729T>A n.700T>A c.864T>A (p.Cys288Ter) c.579T>A (p.Cys193Ter) n.42A>T c.975T>A (p.Cys325Ter) | |
| 6 | g.10404544C>A | CA362701205 | TFAP2A,TFAP2A-AS2 | c.710G>T (p.Cys237Phe) c.734G>T (p.Cys245Phe) c.*225G>T (n.*225G>T) c.299G>T (p.Cys100Phe) c.716G>T (p.Cys239Phe) c.51G>T c.728G>T (p.Cys243Phe) c.442G>T n.728G>T n.699G>T c.863G>T (p.Cys288Phe) c.578G>T (p.Cys193Phe) n.43C>A c.974G>T (p.Cys325Phe) | |
| 6 | g.10404544C= | CA1609976735 | TFAP2A,TFAP2A-AS2 | c.710G= (p.Cys237=) c.734G= (p.Cys245=) c.*225G= (n.*225G=) c.299G= (p.Cys100=) c.716G= (p.Cys239=) c.51G= c.728G= (p.Cys243=) c.442G= n.728G= n.699G= c.863G= (p.Cys288=) c.578G= (p.Cys193=) n.43C= c.974G= (p.Cys325=) | |
| 6 | g.10404544C>G | CA362701206 | TFAP2A,TFAP2A-AS2 | c.710G>C (p.Cys237Ser) c.734G>C (p.Cys245Ser) c.*225G>C (n.*225G>C) c.299G>C (p.Cys100Ser) c.716G>C (p.Cys239Ser) c.51G>C c.728G>C (p.Cys243Ser) c.442G>C n.728G>C n.699G>C c.863G>C (p.Cys288Ser) c.578G>C (p.Cys193Ser) n.43C>G c.974G>C (p.Cys325Ser) | dbSNP gnomAD v4 |
| 6 | g.10404544C>T | CA362701207 | TFAP2A,TFAP2A-AS2 | c.710G>A (p.Cys237Tyr) c.734G>A (p.Cys245Tyr) c.*225G>A (n.*225G>A) c.299G>A (p.Cys100Tyr) c.716G>A (p.Cys239Tyr) c.51G>A c.728G>A (p.Cys243Tyr) c.442G>A n.728G>A n.699G>A c.863G>A (p.Cys288Tyr) c.578G>A (p.Cys193Tyr) n.43C>T c.974G>A (p.Cys325Tyr) | dbSNP gnomAD v4 |
| 6 | g.10404545A= | CA1609976736 | TFAP2A,TFAP2A-AS2 | c.709T= (p.Cys237=) c.733T= (p.Cys245=) c.*224T= (n.*224T=) c.298T= (p.Cys100=) c.715T= (p.Cys239=) c.50T= c.727T= (p.Cys243=) c.441T= n.727T= n.698T= c.862T= (p.Cys288=) c.577T= (p.Cys193=) n.44A= c.973T= (p.Cys325=) | |
| 6 | g.10404545A>C | CA362701208 | TFAP2A,TFAP2A-AS2 | c.709T>G (p.Cys237Gly) c.733T>G (p.Cys245Gly) c.*224T>G (n.*224T>G) c.298T>G (p.Cys100Gly) c.715T>G (p.Cys239Gly) c.50T>G c.727T>G (p.Cys243Gly) c.441T>G n.727T>G n.698T>G c.862T>G (p.Cys288Gly) c.577T>G (p.Cys193Gly) n.44A>C c.973T>G (p.Cys325Gly) | dbSNP |