Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.10404666G>A | CA448717789 | TFAP2A,TFAP2A-AS2 | c.588C>T (p.Gly196=) c.612C>T (p.Gly204=) c.*103C>T (n.*103C>T) c.177C>T (p.Gly59=) c.594C>T (p.Gly198=) c.606C>T (p.Gly202=) c.320C>T n.606C>T n.848C>T n.577C>T c.741C>T (p.Gly247=) c.456C>T (p.Gly152=) n.165G>A c.852C>T (p.Gly284=) | dbSNP gnomAD v4 |
6 | g.10404666G>C | CA448717790 | TFAP2A,TFAP2A-AS2 | c.588C>G (p.Gly196=) c.612C>G (p.Gly204=) c.*103C>G (n.*103C>G) c.177C>G (p.Gly59=) c.594C>G (p.Gly198=) c.606C>G (p.Gly202=) c.320C>G n.606C>G n.848C>G n.577C>G c.741C>G (p.Gly247=) c.456C>G (p.Gly152=) n.165G>C c.852C>G (p.Gly284=) | gnomAD v4 |
6 | g.10404666G= | CA1609976788 | TFAP2A,TFAP2A-AS2 | c.588C= (p.Gly196=) c.612C= (p.Gly204=) c.*103C= (n.*103C=) c.177C= (p.Gly59=) c.594C= (p.Gly198=) c.606C= (p.Gly202=) c.320C= n.606C= n.848C= n.577C= c.741C= (p.Gly247=) c.456C= (p.Gly152=) n.165G= c.852C= (p.Gly284=) | |
6 | g.10404666G>T | CA3631279 | TFAP2A,TFAP2A-AS2 | c.588C>A (p.Gly196=) c.612C>A (p.Gly204=) c.*103C>A (n.*103C>A) c.177C>A (p.Gly59=) c.594C>A (p.Gly198=) c.606C>A (p.Gly202=) c.320C>A n.606C>A n.848C>A n.577C>A c.741C>A (p.Gly247=) c.456C>A (p.Gly152=) n.165G>T c.852C>A (p.Gly284=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404667C>A | CA362701669 | TFAP2A,TFAP2A-AS2 | c.587G>T (p.Gly196Val) c.611G>T (p.Gly204Val) c.*102G>T (n.*102G>T) c.176G>T (p.Gly59Val) c.593G>T (p.Gly198Val) c.605G>T (p.Gly202Val) c.319G>T n.605G>T n.847G>T n.576G>T c.740G>T (p.Gly247Val) c.455G>T (p.Gly152Val) n.166C>A c.851G>T (p.Gly284Val) | |
6 | g.10404667C>G | CA362701670 | TFAP2A,TFAP2A-AS2 | c.587G>C (p.Gly196Ala) c.611G>C (p.Gly204Ala) c.*102G>C (n.*102G>C) c.176G>C (p.Gly59Ala) c.593G>C (p.Gly198Ala) c.605G>C (p.Gly202Ala) c.319G>C n.605G>C n.847G>C n.576G>C c.740G>C (p.Gly247Ala) c.455G>C (p.Gly152Ala) n.166C>G c.851G>C (p.Gly284Ala) | |
6 | g.10404667C>T | CA362701672 | TFAP2A,TFAP2A-AS2 | c.587G>A (p.Gly196Asp) c.611G>A (p.Gly204Asp) c.*102G>A (n.*102G>A) c.176G>A (p.Gly59Asp) c.593G>A (p.Gly198Asp) c.605G>A (p.Gly202Asp) c.319G>A n.605G>A n.847G>A n.576G>A c.740G>A (p.Gly247Asp) c.455G>A (p.Gly152Asp) n.166C>T c.851G>A (p.Gly284Asp) | gnomAD v4 |
6 | g.10404668C>A | CA362701674 | TFAP2A,TFAP2A-AS2 | c.586G>T (p.Gly196Cys) c.610G>T (p.Gly204Cys) c.*101G>T (n.*101G>T) c.175G>T (p.Gly59Cys) c.592G>T (p.Gly198Cys) c.604G>T (p.Gly202Cys) n.658G>T c.318G>T n.604G>T n.846G>T n.575G>T c.739G>T (p.Gly247Cys) c.454G>T (p.Gly152Cys) n.167C>A c.850G>T (p.Gly284Cys) | |
6 | g.10404668C>G | CA362701678 | TFAP2A,TFAP2A-AS2 | c.586G>C (p.Gly196Arg) c.610G>C (p.Gly204Arg) c.*101G>C (n.*101G>C) c.175G>C (p.Gly59Arg) c.592G>C (p.Gly198Arg) c.604G>C (p.Gly202Arg) n.658G>C c.318G>C n.604G>C n.846G>C n.575G>C c.739G>C (p.Gly247Arg) c.454G>C (p.Gly152Arg) n.167C>G c.850G>C (p.Gly284Arg) | gnomAD v4 |
6 | g.10404668C>T | CA362701676 | TFAP2A,TFAP2A-AS2 | c.586G>A (p.Gly196Ser) c.610G>A (p.Gly204Ser) c.*101G>A (n.*101G>A) c.175G>A (p.Gly59Ser) c.592G>A (p.Gly198Ser) c.604G>A (p.Gly202Ser) n.658G>A c.318G>A n.604G>A n.846G>A n.575G>A c.739G>A (p.Gly247Ser) c.454G>A (p.Gly152Ser) n.167C>T c.850G>A (p.Gly284Ser) | |
6 | g.10404669G>A | CA3631281 | TFAP2A,TFAP2A-AS2 | c.585C>T (p.Phe195=) c.609C>T (p.Phe203=) c.*100C>T (n.*100C>T) c.174C>T (p.Phe58=) c.591C>T (p.Phe197=) c.603C>T (p.Phe201=) n.657C>T c.317C>T n.603C>T n.845C>T n.574C>T c.738C>T (p.Phe246=) c.453C>T (p.Phe151=) n.168G>A c.849C>T (p.Phe283=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404669G>C | CA362701680 | TFAP2A,TFAP2A-AS2 | c.585C>G (p.Phe195Leu) c.609C>G (p.Phe203Leu) c.*100C>G (n.*100C>G) c.174C>G (p.Phe58Leu) c.591C>G (p.Phe197Leu) c.603C>G (p.Phe201Leu) n.657C>G c.317C>G n.603C>G n.845C>G n.574C>G c.738C>G (p.Phe246Leu) c.453C>G (p.Phe151Leu) n.168G>C c.849C>G (p.Phe283Leu) | |
6 | g.10404669G= | CA1609976789 | TFAP2A,TFAP2A-AS2 | c.585C= (p.Phe195=) c.609C= (p.Phe203=) c.*100C= (n.*100C=) c.174C= (p.Phe58=) c.591C= (p.Phe197=) c.603C= (p.Phe201=) n.657C= c.317C= n.603C= n.845C= n.574C= c.738C= (p.Phe246=) c.453C= (p.Phe151=) n.168G= c.849C= (p.Phe283=) | |
6 | g.10404669G>T | CA3631280 | TFAP2A,TFAP2A-AS2 | c.585C>A (p.Phe195Leu) c.609C>A (p.Phe203Leu) c.*100C>A (n.*100C>A) c.174C>A (p.Phe58Leu) c.591C>A (p.Phe197Leu) c.603C>A (p.Phe201Leu) n.657C>A c.317C>A n.603C>A n.845C>A n.574C>A c.738C>A (p.Phe246Leu) c.453C>A (p.Phe151Leu) n.168G>T c.849C>A (p.Phe283Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404670A= | CA1609976790 | TFAP2A,TFAP2A-AS2 | c.584T= (p.Phe195=) c.608T= (p.Phe203=) c.*99T= (n.*99T=) c.173T= (p.Phe58=) c.590T= (p.Phe197=) c.602T= (p.Phe201=) n.656T= c.316T= n.602T= n.844T= n.573T= c.737T= (p.Phe246=) c.452T= (p.Phe151=) n.169A= c.848T= (p.Phe283=) | |
6 | g.10404670A>C | CA362701682 | TFAP2A,TFAP2A-AS2 | c.584T>G (p.Phe195Cys) c.608T>G (p.Phe203Cys) c.*99T>G (n.*99T>G) c.173T>G (p.Phe58Cys) c.590T>G (p.Phe197Cys) c.602T>G (p.Phe201Cys) n.656T>G c.316T>G n.602T>G n.844T>G n.573T>G c.737T>G (p.Phe246Cys) c.452T>G (p.Phe151Cys) n.169A>C c.848T>G (p.Phe283Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404670A>G | CA362701683 | TFAP2A,TFAP2A-AS2 | c.584T>C (p.Phe195Ser) c.608T>C (p.Phe203Ser) c.*99T>C (n.*99T>C) c.173T>C (p.Phe58Ser) c.590T>C (p.Phe197Ser) c.602T>C (p.Phe201Ser) n.656T>C c.316T>C n.602T>C n.844T>C n.573T>C c.737T>C (p.Phe246Ser) c.452T>C (p.Phe151Ser) n.169A>G c.848T>C (p.Phe283Ser) | |
6 | g.10404670A>T | CA362701684 | TFAP2A,TFAP2A-AS2 | c.584T>A (p.Phe195Tyr) c.608T>A (p.Phe203Tyr) c.*99T>A (n.*99T>A) c.173T>A (p.Phe58Tyr) c.590T>A (p.Phe197Tyr) c.602T>A (p.Phe201Tyr) n.656T>A c.316T>A n.602T>A n.844T>A n.573T>A c.737T>A (p.Phe246Tyr) c.452T>A (p.Phe151Tyr) n.169A>T c.848T>A (p.Phe283Tyr) | |
6 | g.10404671A>C | CA362701685 | TFAP2A,TFAP2A-AS2 | c.583T>G (p.Phe195Val) c.607T>G (p.Phe203Val) c.*98T>G (n.*98T>G) c.172T>G (p.Phe58Val) c.589T>G (p.Phe197Val) c.601T>G (p.Phe201Val) n.655T>G c.315T>G n.601T>G n.843T>G n.572T>G c.736T>G (p.Phe246Val) c.451T>G (p.Phe151Val) n.170A>C c.847T>G (p.Phe283Val) | |
6 | g.10404671A>G | CA362701687 | TFAP2A,TFAP2A-AS2 | c.583T>C (p.Phe195Leu) c.607T>C (p.Phe203Leu) c.*98T>C (n.*98T>C) c.172T>C (p.Phe58Leu) c.589T>C (p.Phe197Leu) c.601T>C (p.Phe201Leu) n.655T>C c.315T>C n.601T>C n.843T>C n.572T>C c.736T>C (p.Phe246Leu) c.451T>C (p.Phe151Leu) n.170A>G c.847T>C (p.Phe283Leu) | |
6 | g.10404671A>T | CA362701689 | TFAP2A,TFAP2A-AS2 | c.583T>A (p.Phe195Ile) c.607T>A (p.Phe203Ile) c.*98T>A (n.*98T>A) c.172T>A (p.Phe58Ile) c.589T>A (p.Phe197Ile) c.601T>A (p.Phe201Ile) n.655T>A c.315T>A n.601T>A n.843T>A n.572T>A c.736T>A (p.Phe246Ile) c.451T>A (p.Phe151Ile) n.170A>T c.847T>A (p.Phe283Ile) | |
6 | g.10404672G>A | CA3631282 | TFAP2A,TFAP2A-AS2 | c.582C>T (p.Leu194=) c.606C>T (p.Leu202=) c.*97C>T (n.*97C>T) c.171C>T (p.Leu57=) c.588C>T (p.Leu196=) c.600C>T (p.Leu200=) n.654C>T c.314C>T n.600C>T n.842C>T n.571C>T c.735C>T (p.Leu245=) c.450C>T (p.Leu150=) n.171G>A c.846C>T (p.Leu282=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404672G>C | CA448717801 | TFAP2A,TFAP2A-AS2 | c.582C>G (p.Leu194=) c.606C>G (p.Leu202=) c.*97C>G (n.*97C>G) c.171C>G (p.Leu57=) c.588C>G (p.Leu196=) c.600C>G (p.Leu200=) n.654C>G c.314C>G n.600C>G n.842C>G n.571C>G c.735C>G (p.Leu245=) c.450C>G (p.Leu150=) n.171G>C c.846C>G (p.Leu282=) | |
6 | g.10404672G= | CA1609976791 | TFAP2A,TFAP2A-AS2 | c.582C= (p.Leu194=) c.606C= (p.Leu202=) c.*97C= (n.*97C=) c.171C= (p.Leu57=) c.588C= (p.Leu196=) c.600C= (p.Leu200=) n.654C= c.314C= n.600C= n.842C= n.571C= c.735C= (p.Leu245=) c.450C= (p.Leu150=) n.171G= c.846C= (p.Leu282=) | |
6 | g.10404672G>T | CA448717803 | TFAP2A,TFAP2A-AS2 | c.582C>A (p.Leu194=) c.606C>A (p.Leu202=) c.*97C>A (n.*97C>A) c.171C>A (p.Leu57=) c.588C>A (p.Leu196=) c.600C>A (p.Leu200=) n.654C>A c.314C>A n.600C>A n.842C>A n.571C>A c.735C>A (p.Leu245=) c.450C>A (p.Leu150=) n.171G>T c.846C>A (p.Leu282=) | ClinVar dbSNP |
6 | g.10404673A>C | CA362701696 | TFAP2A,TFAP2A-AS2 | c.581T>G (p.Leu194Arg) c.605T>G (p.Leu202Arg) c.*96T>G (n.*96T>G) c.170T>G (p.Leu57Arg) c.587T>G (p.Leu196Arg) c.599T>G (p.Leu200Arg) n.653T>G c.313T>G n.599T>G n.841T>G n.570T>G c.734T>G (p.Leu245Arg) c.449T>G (p.Leu150Arg) n.172A>C c.845T>G (p.Leu282Arg) | |
6 | g.10404673A>G | CA362701694 | TFAP2A,TFAP2A-AS2 | c.581T>C (p.Leu194Pro) c.605T>C (p.Leu202Pro) c.*96T>C (n.*96T>C) c.170T>C (p.Leu57Pro) c.587T>C (p.Leu196Pro) c.599T>C (p.Leu200Pro) n.653T>C c.313T>C n.599T>C n.841T>C n.570T>C c.734T>C (p.Leu245Pro) c.449T>C (p.Leu150Pro) n.172A>G c.845T>C (p.Leu282Pro) | |
6 | g.10404673A>T | CA362701692 | TFAP2A,TFAP2A-AS2 | c.581T>A (p.Leu194His) c.605T>A (p.Leu202His) c.*96T>A (n.*96T>A) c.170T>A (p.Leu57His) c.587T>A (p.Leu196His) c.599T>A (p.Leu200His) n.653T>A c.313T>A n.599T>A n.841T>A n.570T>A c.734T>A (p.Leu245His) c.449T>A (p.Leu150His) n.172A>T c.845T>A (p.Leu282His) | |
6 | g.10404674G>A | CA362701697 | TFAP2A,TFAP2A-AS2 | c.580C>T (p.Leu194Phe) c.604C>T (p.Leu202Phe) c.*95C>T (n.*95C>T) c.169C>T (p.Leu57Phe) c.586C>T (p.Leu196Phe) c.598C>T (p.Leu200Phe) n.652C>T c.312C>T n.598C>T n.840C>T n.569C>T c.733C>T (p.Leu245Phe) c.448C>T (p.Leu150Phe) n.173G>A c.844C>T (p.Leu282Phe) | gnomAD v4 |
6 | g.10404674G>C | CA362701699 | TFAP2A,TFAP2A-AS2 | c.580C>G (p.Leu194Val) c.604C>G (p.Leu202Val) c.*95C>G (n.*95C>G) c.169C>G (p.Leu57Val) c.586C>G (p.Leu196Val) c.598C>G (p.Leu200Val) n.652C>G c.312C>G n.598C>G n.840C>G n.569C>G c.733C>G (p.Leu245Val) c.448C>G (p.Leu150Val) n.173G>C c.844C>G (p.Leu282Val) | gnomAD v4 |
6 | g.10404674G>T | CA362701701 | TFAP2A,TFAP2A-AS2 | c.580C>A (p.Leu194Ile) c.604C>A (p.Leu202Ile) c.*95C>A (n.*95C>A) c.169C>A (p.Leu57Ile) c.586C>A (p.Leu196Ile) c.598C>A (p.Leu200Ile) n.652C>A c.312C>A n.598C>A n.840C>A n.569C>A c.733C>A (p.Leu245Ile) c.448C>A (p.Leu150Ile) n.173G>T c.844C>A (p.Leu282Ile) | |
6 | g.10404675G>A | CA448717809 | TFAP2A,TFAP2A-AS2 | c.579C>T (p.Asn193=) c.603C>T (p.Asn201=) c.*94C>T (n.*94C>T) c.168C>T (p.Asn56=) c.585C>T (p.Asn195=) c.597C>T (p.Asn199=) n.651C>T c.311C>T n.597C>T n.839C>T n.568C>T c.732C>T (p.Asn244=) c.447C>T (p.Asn149=) n.174G>A c.843C>T (p.Asn281=) | |
6 | g.10404675G>C | CA362701702 | TFAP2A,TFAP2A-AS2 | c.579C>G (p.Asn193Lys) c.603C>G (p.Asn201Lys) c.*94C>G (n.*94C>G) c.168C>G (p.Asn56Lys) c.585C>G (p.Asn195Lys) c.597C>G (p.Asn199Lys) n.651C>G c.311C>G n.597C>G n.839C>G n.568C>G c.732C>G (p.Asn244Lys) c.447C>G (p.Asn149Lys) n.174G>C c.843C>G (p.Asn281Lys) | |
6 | g.10404675G>T | CA362701703 | TFAP2A,TFAP2A-AS2 | c.579C>A (p.Asn193Lys) c.603C>A (p.Asn201Lys) c.*94C>A (n.*94C>A) c.168C>A (p.Asn56Lys) c.585C>A (p.Asn195Lys) c.597C>A (p.Asn199Lys) n.651C>A c.311C>A n.597C>A n.839C>A n.568C>A c.732C>A (p.Asn244Lys) c.447C>A (p.Asn149Lys) n.174G>T c.843C>A (p.Asn281Lys) | gnomAD v4 |
6 | g.10404676T>A | CA362701705 | TFAP2A,TFAP2A-AS2 | c.578A>T (p.Asn193Ile) c.602A>T (p.Asn201Ile) c.*93A>T (n.*93A>T) c.167A>T (p.Asn56Ile) c.584A>T (p.Asn195Ile) c.596A>T (p.Asn199Ile) n.650A>T c.310A>T n.596A>T n.838A>T n.567A>T c.731A>T (p.Asn244Ile) c.446A>T (p.Asn149Ile) n.175T>A c.842A>T (p.Asn281Ile) | |
6 | g.10404676T>C | CA362701706 | TFAP2A,TFAP2A-AS2 | c.578A>G (p.Asn193Ser) c.602A>G (p.Asn201Ser) c.*93A>G (n.*93A>G) c.167A>G (p.Asn56Ser) c.584A>G (p.Asn195Ser) c.596A>G (p.Asn199Ser) n.650A>G c.310A>G n.596A>G n.838A>G n.567A>G c.731A>G (p.Asn244Ser) c.446A>G (p.Asn149Ser) n.175T>C c.842A>G (p.Asn281Ser) | gnomAD v4 |
6 | g.10404676T>G | CA362701707 | TFAP2A,TFAP2A-AS2 | c.578A>C (p.Asn193Thr) c.602A>C (p.Asn201Thr) c.*93A>C (n.*93A>C) c.167A>C (p.Asn56Thr) c.584A>C (p.Asn195Thr) c.596A>C (p.Asn199Thr) n.650A>C c.310A>C n.596A>C n.838A>C n.567A>C c.731A>C (p.Asn244Thr) c.446A>C (p.Asn149Thr) n.175T>G c.842A>C (p.Asn281Thr) | |
6 | g.10404677del | CA2695205974 | TFAP2A,TFAP2A-AS2 | c.578del (p.Asn193ThrfsTer7) c.602del (p.Asn201ThrfsTer7) c.*93del (n.*93del) c.167del (p.Asn56ThrfsTer7) c.584del (p.Asn195ThrfsTer7) c.596del (p.Asn199ThrfsTer7) n.650del c.310del n.596del n.838del n.567del c.731del (p.Asn244ThrfsTer7) c.446del (p.Asn149ThrfsTer7) n.176del c.842del (p.Asn281ThrfsTer7) | |
6 | g.10404677T>A | CA362701709 | TFAP2A,TFAP2A-AS2 | c.577A>T (p.Asn193Tyr) c.601A>T (p.Asn201Tyr) c.*92A>T (n.*92A>T) c.166A>T (p.Asn56Tyr) c.583A>T (p.Asn195Tyr) c.595A>T (p.Asn199Tyr) n.649A>T c.309A>T n.595A>T n.837A>T n.566A>T c.730A>T (p.Asn244Tyr) c.445A>T (p.Asn149Tyr) n.176T>A c.841A>T (p.Asn281Tyr) | |
6 | g.10404677T>C | CA3631283 | TFAP2A,TFAP2A-AS2 | c.577A>G (p.Asn193Asp) c.601A>G (p.Asn201Asp) c.*92A>G (n.*92A>G) c.166A>G (p.Asn56Asp) c.583A>G (p.Asn195Asp) c.595A>G (p.Asn199Asp) n.649A>G c.309A>G n.595A>G n.837A>G n.566A>G c.730A>G (p.Asn244Asp) c.445A>G (p.Asn149Asp) n.176T>C c.841A>G (p.Asn281Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404677T>G | CA362701710 | TFAP2A,TFAP2A-AS2 | c.577A>C (p.Asn193His) c.601A>C (p.Asn201His) c.*92A>C (n.*92A>C) c.166A>C (p.Asn56His) c.583A>C (p.Asn195His) c.595A>C (p.Asn199His) n.649A>C c.309A>C n.595A>C n.837A>C n.566A>C c.730A>C (p.Asn244His) c.445A>C (p.Asn149His) n.176T>G c.841A>C (p.Asn281His) | |
6 | g.10404677T= | CA1609976792 | TFAP2A,TFAP2A-AS2 | c.577A= (p.Asn193=) c.601A= (p.Asn201=) c.*92A= (n.*92A=) c.166A= (p.Asn56=) c.583A= (p.Asn195=) c.595A= (p.Asn199=) n.649A= c.309A= n.595A= n.837A= n.566A= c.730A= (p.Asn244=) c.445A= (p.Asn149=) n.176T= c.841A= (p.Asn281=) | |
6 | g.10404678G>A | CA448717816 | TFAP2A,TFAP2A-AS2 | c.576C>T (p.Asp192=) c.600C>T (p.Asp200=) c.*91C>T (n.*91C>T) c.165C>T (p.Asp55=) c.582C>T (p.Asp194=) c.594C>T (p.Asp198=) n.648C>T c.308C>T n.594C>T n.836C>T n.565C>T c.729C>T (p.Asp243=) c.444C>T (p.Asp148=) n.177G>A c.840C>T (p.Asp280=) | |
6 | g.10404678G>C | CA362701711 | TFAP2A,TFAP2A-AS2 | c.576C>G (p.Asp192Glu) c.600C>G (p.Asp200Glu) c.*91C>G (n.*91C>G) c.165C>G (p.Asp55Glu) c.582C>G (p.Asp194Glu) c.594C>G (p.Asp198Glu) n.648C>G c.308C>G n.594C>G n.836C>G n.565C>G c.729C>G (p.Asp243Glu) c.444C>G (p.Asp148Glu) n.177G>C c.840C>G (p.Asp280Glu) | dbSNP |
6 | g.10404678G= | CA1609976793 | TFAP2A,TFAP2A-AS2 | c.576C= (p.Asp192=) c.600C= (p.Asp200=) c.*91C= (n.*91C=) c.165C= (p.Asp55=) c.582C= (p.Asp194=) c.594C= (p.Asp198=) n.648C= c.308C= n.594C= n.836C= n.565C= c.729C= (p.Asp243=) c.444C= (p.Asp148=) n.177G= c.840C= (p.Asp280=) | |
6 | g.10404678G>T | CA362701712 | TFAP2A,TFAP2A-AS2 | c.576C>A (p.Asp192Glu) c.600C>A (p.Asp200Glu) c.*91C>A (n.*91C>A) c.165C>A (p.Asp55Glu) c.582C>A (p.Asp194Glu) c.594C>A (p.Asp198Glu) n.648C>A c.308C>A n.594C>A n.836C>A n.565C>A c.729C>A (p.Asp243Glu) c.444C>A (p.Asp148Glu) n.177G>T c.840C>A (p.Asp280Glu) | |
6 | g.10404679T>A | CA362701719 | TFAP2A,TFAP2A-AS2 | c.575A>T (p.Asp192Val) c.599A>T (p.Asp200Val) c.*90A>T (n.*90A>T) c.164A>T (p.Asp55Val) c.581A>T (p.Asp194Val) c.593A>T (p.Asp198Val) n.647A>T c.307A>T n.593A>T n.835A>T n.564A>T c.728A>T (p.Asp243Val) c.443A>T (p.Asp148Val) n.178T>A c.839A>T (p.Asp280Val) | |
6 | g.10404679T>C | CA362701717 | TFAP2A,TFAP2A-AS2 | c.575A>G (p.Asp192Gly) c.599A>G (p.Asp200Gly) c.*90A>G (n.*90A>G) c.164A>G (p.Asp55Gly) c.581A>G (p.Asp194Gly) c.593A>G (p.Asp198Gly) n.647A>G c.307A>G n.593A>G n.835A>G n.564A>G c.728A>G (p.Asp243Gly) c.443A>G (p.Asp148Gly) n.178T>C c.839A>G (p.Asp280Gly) | |
6 | g.10404679T>G | CA362701716 | TFAP2A,TFAP2A-AS2 | c.575A>C (p.Asp192Ala) c.599A>C (p.Asp200Ala) c.*90A>C (n.*90A>C) c.164A>C (p.Asp55Ala) c.581A>C (p.Asp194Ala) c.593A>C (p.Asp198Ala) n.647A>C c.307A>C n.593A>C n.835A>C n.564A>C c.728A>C (p.Asp243Ala) c.443A>C (p.Asp148Ala) n.178T>G c.839A>C (p.Asp280Ala) | |
6 | g.10404680C>A | CA362701721 | TFAP2A,TFAP2A-AS2 | c.574G>T (p.Asp192Tyr) c.598G>T (p.Asp200Tyr) c.*89G>T (n.*89G>T) c.163G>T (p.Asp55Tyr) c.580G>T (p.Asp194Tyr) c.592G>T (p.Asp198Tyr) n.646G>T c.306G>T n.592G>T n.834G>T n.563G>T c.727G>T (p.Asp243Tyr) c.442G>T (p.Asp148Tyr) n.179C>A c.838G>T (p.Asp280Tyr) | |
6 | g.10404680C>G | CA362701722 | TFAP2A,TFAP2A-AS2 | c.574G>C (p.Asp192His) c.598G>C (p.Asp200His) c.*89G>C (n.*89G>C) c.163G>C (p.Asp55His) c.580G>C (p.Asp194His) c.592G>C (p.Asp198His) n.646G>C c.306G>C n.592G>C n.834G>C n.563G>C c.727G>C (p.Asp243His) c.442G>C (p.Asp148His) n.179C>G c.838G>C (p.Asp280His) | |
6 | g.10404680C>T | CA362701724 | TFAP2A,TFAP2A-AS2 | c.574G>A (p.Asp192Asn) c.598G>A (p.Asp200Asn) c.*89G>A (n.*89G>A) c.163G>A (p.Asp55Asn) c.580G>A (p.Asp194Asn) c.592G>A (p.Asp198Asn) n.646G>A c.306G>A n.592G>A n.834G>A n.563G>A c.727G>A (p.Asp243Asn) c.442G>A (p.Asp148Asn) n.179C>T c.838G>A (p.Asp280Asn) | ClinVar dbSNP |
6 | g.10404681C>A | CA362701726 | TFAP2A,TFAP2A-AS2 | c.573G>T (p.Lys191Asn) c.597G>T (p.Lys199Asn) c.*88G>T (n.*88G>T) c.162G>T (p.Lys54Asn) c.579G>T (p.Lys193Asn) c.591G>T (p.Lys197Asn) n.645G>T c.305G>T n.591G>T n.833G>T n.562G>T c.726G>T (p.Lys242Asn) c.441G>T (p.Lys147Asn) n.180C>A c.837G>T (p.Lys279Asn) | |
6 | g.10404681C= | CA1609976794 | TFAP2A,TFAP2A-AS2 | c.573G= (p.Lys191=) c.597G= (p.Lys199=) c.*88G= (n.*88G=) c.162G= (p.Lys54=) c.579G= (p.Lys193=) c.591G= (p.Lys197=) n.645G= c.305G= n.591G= n.833G= n.562G= c.726G= (p.Lys242=) c.441G= (p.Lys147=) n.180C= c.837G= (p.Lys279=) | |
6 | g.10404681C>G | CA362701728 | TFAP2A,TFAP2A-AS2 | c.573G>C (p.Lys191Asn) c.597G>C (p.Lys199Asn) c.*88G>C (n.*88G>C) c.162G>C (p.Lys54Asn) c.579G>C (p.Lys193Asn) c.591G>C (p.Lys197Asn) n.645G>C c.305G>C n.591G>C n.833G>C n.562G>C c.726G>C (p.Lys242Asn) c.441G>C (p.Lys147Asn) n.180C>G c.837G>C (p.Lys279Asn) | |
6 | g.10404681C>T | CA3631284 | TFAP2A,TFAP2A-AS2 | c.573G>A (p.Lys191=) c.597G>A (p.Lys199=) c.*88G>A (n.*88G>A) c.162G>A (p.Lys54=) c.579G>A (p.Lys193=) c.591G>A (p.Lys197=) n.645G>A c.305G>A n.591G>A n.833G>A n.562G>A c.726G>A (p.Lys242=) c.441G>A (p.Lys147=) n.180C>T c.837G>A (p.Lys279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404682T>A | CA362701731 | TFAP2A,TFAP2A-AS2 | c.572A>T (p.Lys191Met) c.596A>T (p.Lys199Met) c.*87A>T (n.*87A>T) c.161A>T (p.Lys54Met) c.578A>T (p.Lys193Met) c.590A>T (p.Lys197Met) n.644A>T c.304A>T n.590A>T n.832A>T n.561A>T c.725A>T (p.Lys242Met) c.440A>T (p.Lys147Met) n.181T>A c.836A>T (p.Lys279Met) | |
6 | g.10404682T>C | CA362701733 | TFAP2A,TFAP2A-AS2 | c.572A>G (p.Lys191Arg) c.596A>G (p.Lys199Arg) c.*87A>G (n.*87A>G) c.161A>G (p.Lys54Arg) c.578A>G (p.Lys193Arg) c.590A>G (p.Lys197Arg) n.644A>G c.304A>G n.590A>G n.832A>G n.561A>G c.725A>G (p.Lys242Arg) c.440A>G (p.Lys147Arg) n.181T>C c.836A>G (p.Lys279Arg) | |
6 | g.10404682T>G | CA362701735 | TFAP2A,TFAP2A-AS2 | c.572A>C (p.Lys191Thr) c.596A>C (p.Lys199Thr) c.*87A>C (n.*87A>C) c.161A>C (p.Lys54Thr) c.578A>C (p.Lys193Thr) c.590A>C (p.Lys197Thr) n.644A>C c.304A>C n.590A>C n.832A>C n.561A>C c.725A>C (p.Lys242Thr) c.440A>C (p.Lys147Thr) n.181T>G c.836A>C (p.Lys279Thr) | |
6 | g.10404683T>A | CA362701736 | TFAP2A,TFAP2A-AS2 | c.571A>T (p.Lys191Ter) c.595A>T (p.Lys199Ter) c.*86A>T (n.*86A>T) c.160A>T (p.Lys54Ter) c.577A>T (p.Lys193Ter) c.589A>T (p.Lys197Ter) n.643A>T c.303A>T n.589A>T n.831A>T n.560A>T c.724A>T (p.Lys242Ter) c.439A>T (p.Lys147Ter) n.182T>A c.835A>T (p.Lys279Ter) | |
6 | g.10404683T>C | CA362701737 | TFAP2A,TFAP2A-AS2 | c.571A>G (p.Lys191Glu) c.595A>G (p.Lys199Glu) c.*86A>G (n.*86A>G) c.160A>G (p.Lys54Glu) c.577A>G (p.Lys193Glu) c.589A>G (p.Lys197Glu) n.643A>G c.303A>G n.589A>G n.831A>G n.560A>G c.724A>G (p.Lys242Glu) c.439A>G (p.Lys147Glu) n.182T>C c.835A>G (p.Lys279Glu) | |
6 | g.10404683T>G | CA362701738 | TFAP2A,TFAP2A-AS2 | c.571A>C (p.Lys191Gln) c.595A>C (p.Lys199Gln) c.*86A>C (n.*86A>C) c.160A>C (p.Lys54Gln) c.577A>C (p.Lys193Gln) c.589A>C (p.Lys197Gln) n.643A>C c.303A>C n.589A>C n.831A>C n.560A>C c.724A>C (p.Lys242Gln) c.439A>C (p.Lys147Gln) n.182T>G c.835A>C (p.Lys279Gln) | |
6 | g.10404684G>A | CA448717826 | TFAP2A,TFAP2A-AS2 | c.570C>T (p.Asn190=) c.594C>T (p.Asn198=) c.*85C>T (n.*85C>T) c.159C>T (p.Asn53=) c.576C>T (p.Asn192=) c.588C>T (p.Asn196=) n.642C>T c.302C>T n.588C>T n.830C>T n.559C>T c.723C>T (p.Asn241=) c.438C>T (p.Asn146=) n.183G>A c.834C>T (p.Asn278=) | gnomAD v4 |
6 | g.10404684G>C | CA362701739 | TFAP2A,TFAP2A-AS2 | c.570C>G (p.Asn190Lys) c.594C>G (p.Asn198Lys) c.*85C>G (n.*85C>G) c.159C>G (p.Asn53Lys) c.576C>G (p.Asn192Lys) c.588C>G (p.Asn196Lys) n.642C>G c.302C>G n.588C>G n.830C>G n.559C>G c.723C>G (p.Asn241Lys) c.438C>G (p.Asn146Lys) n.183G>C c.834C>G (p.Asn278Lys) | |
6 | g.10404684G= | CA1609976795 | TFAP2A,TFAP2A-AS2 | c.570C= (p.Asn190=) c.594C= (p.Asn198=) c.*85C= (n.*85C=) c.159C= (p.Asn53=) c.576C= (p.Asn192=) c.588C= (p.Asn196=) n.642C= c.302C= n.588C= n.830C= n.559C= c.723C= (p.Asn241=) c.438C= (p.Asn146=) n.183G= c.834C= (p.Asn278=) | |
6 | g.10404684G>T | CA134049244 | TFAP2A,TFAP2A-AS2 | c.570C>A (p.Asn190Lys) c.594C>A (p.Asn198Lys) c.*85C>A (n.*85C>A) c.159C>A (p.Asn53Lys) c.576C>A (p.Asn192Lys) c.588C>A (p.Asn196Lys) n.642C>A c.302C>A n.588C>A n.830C>A n.559C>A c.723C>A (p.Asn241Lys) c.438C>A (p.Asn146Lys) n.183G>T c.834C>A (p.Asn278Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404685T>A | CA362701742 | TFAP2A,TFAP2A-AS2 | c.569A>T (p.Asn190Ile) c.593A>T (p.Asn198Ile) c.*84A>T (n.*84A>T) c.158A>T (p.Asn53Ile) c.575A>T (p.Asn192Ile) c.587A>T (p.Asn196Ile) n.641A>T c.301A>T n.587A>T n.829A>T n.558A>T c.722A>T (p.Asn241Ile) c.437A>T (p.Asn146Ile) n.184T>A c.833A>T (p.Asn278Ile) | gnomAD v4 |
6 | g.10404685T>C | CA362701744 | TFAP2A,TFAP2A-AS2 | c.569A>G (p.Asn190Ser) c.593A>G (p.Asn198Ser) c.*84A>G (n.*84A>G) c.158A>G (p.Asn53Ser) c.575A>G (p.Asn192Ser) c.587A>G (p.Asn196Ser) n.641A>G c.301A>G n.587A>G n.829A>G n.558A>G c.722A>G (p.Asn241Ser) c.437A>G (p.Asn146Ser) n.184T>C c.833A>G (p.Asn278Ser) | |
6 | g.10404685T>G | CA362701741 | TFAP2A,TFAP2A-AS2 | c.569A>C (p.Asn190Thr) c.593A>C (p.Asn198Thr) c.*84A>C (n.*84A>C) c.158A>C (p.Asn53Thr) c.575A>C (p.Asn192Thr) c.587A>C (p.Asn196Thr) n.641A>C c.301A>C n.587A>C n.829A>C n.558A>C c.722A>C (p.Asn241Thr) c.437A>C (p.Asn146Thr) n.184T>G c.833A>C (p.Asn278Thr) | |
6 | g.10404686T>A | CA362701748 | TFAP2A,TFAP2A-AS2 | c.568A>T (p.Asn190Tyr) c.592A>T (p.Asn198Tyr) c.*83A>T (n.*83A>T) c.157A>T (p.Asn53Tyr) c.574A>T (p.Asn192Tyr) c.586A>T (p.Asn196Tyr) n.640A>T c.300A>T n.586A>T n.828A>T n.557A>T c.721A>T (p.Asn241Tyr) c.436A>T (p.Asn146Tyr) n.185T>A c.832A>T (p.Asn278Tyr) | |
6 | g.10404686T>C | CA362701757 | TFAP2A,TFAP2A-AS2 | c.568A>G (p.Asn190Asp) c.592A>G (p.Asn198Asp) c.*83A>G (n.*83A>G) c.157A>G (p.Asn53Asp) c.574A>G (p.Asn192Asp) c.586A>G (p.Asn196Asp) n.640A>G c.300A>G n.586A>G n.828A>G n.557A>G c.721A>G (p.Asn241Asp) c.436A>G (p.Asn146Asp) n.185T>C c.832A>G (p.Asn278Asp) | |
6 | g.10404686T>G | CA362701759 | TFAP2A,TFAP2A-AS2 | c.568A>C (p.Asn190His) c.592A>C (p.Asn198His) c.*83A>C (n.*83A>C) c.157A>C (p.Asn53His) c.574A>C (p.Asn192His) c.586A>C (p.Asn196His) n.640A>C c.300A>C n.586A>C n.828A>C n.557A>C c.721A>C (p.Asn241His) c.436A>C (p.Asn146His) n.185T>G c.832A>C (p.Asn278His) | |
6 | g.10404687A= | CA1609976796 | TFAP2A,TFAP2A-AS2 | c.567T= (p.Ile189=) c.591T= (p.Ile197=) c.*82T= (n.*82T=) c.156T= (p.Ile52=) c.573T= (p.Ile191=) c.585T= (p.Ile195=) n.639T= c.299T= n.585T= n.827T= n.556T= c.720T= (p.Ile240=) c.435T= (p.Ile145=) n.186A= c.831T= (p.Ile277=) | |
6 | g.10404687A>C | CA3631285 | TFAP2A,TFAP2A-AS2 | c.567T>G (p.Ile189Met) c.591T>G (p.Ile197Met) c.*82T>G (n.*82T>G) c.156T>G (p.Ile52Met) c.573T>G (p.Ile191Met) c.585T>G (p.Ile195Met) n.639T>G c.299T>G n.585T>G n.827T>G n.556T>G c.720T>G (p.Ile240Met) c.435T>G (p.Ile145Met) n.186A>C c.831T>G (p.Ile277Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404687A>G | CA448717838 | TFAP2A,TFAP2A-AS2 | c.567T>C (p.Ile189=) c.591T>C (p.Ile197=) c.*82T>C (n.*82T>C) c.156T>C (p.Ile52=) c.573T>C (p.Ile191=) c.585T>C (p.Ile195=) n.639T>C c.299T>C n.585T>C n.827T>C n.556T>C c.720T>C (p.Ile240=) c.435T>C (p.Ile145=) n.186A>G c.831T>C (p.Ile277=) | |
6 | g.10404687A>T | CA448717839 | TFAP2A,TFAP2A-AS2 | c.567T>A (p.Ile189=) c.591T>A (p.Ile197=) c.*82T>A (n.*82T>A) c.156T>A (p.Ile52=) c.573T>A (p.Ile191=) c.585T>A (p.Ile195=) n.639T>A c.299T>A n.585T>A n.827T>A n.556T>A c.720T>A (p.Ile240=) c.435T>A (p.Ile145=) n.186A>T c.831T>A (p.Ile277=) | |
6 | g.10404688A>C | CA362701765 | TFAP2A,TFAP2A-AS2 | c.566T>G (p.Ile189Ser) c.590T>G (p.Ile197Ser) c.*81T>G (n.*81T>G) c.155T>G (p.Ile52Ser) c.572T>G (p.Ile191Ser) c.584T>G (p.Ile195Ser) n.638T>G c.298T>G n.584T>G n.826T>G n.555T>G c.719T>G (p.Ile240Ser) c.434T>G (p.Ile145Ser) n.187A>C c.830T>G (p.Ile277Ser) | |
6 | g.10404688A>G | CA362701767 | TFAP2A,TFAP2A-AS2 | c.566T>C (p.Ile189Thr) c.590T>C (p.Ile197Thr) c.*81T>C (n.*81T>C) c.155T>C (p.Ile52Thr) c.572T>C (p.Ile191Thr) c.584T>C (p.Ile195Thr) n.638T>C c.298T>C n.584T>C n.826T>C n.555T>C c.719T>C (p.Ile240Thr) c.434T>C (p.Ile145Thr) n.187A>G c.830T>C (p.Ile277Thr) | |
6 | g.10404688A>T | CA362701771 | TFAP2A,TFAP2A-AS2 | c.566T>A (p.Ile189Asn) c.590T>A (p.Ile197Asn) c.*81T>A (n.*81T>A) c.155T>A (p.Ile52Asn) c.572T>A (p.Ile191Asn) c.584T>A (p.Ile195Asn) n.638T>A c.298T>A n.584T>A n.826T>A n.555T>A c.719T>A (p.Ile240Asn) c.434T>A (p.Ile145Asn) n.187A>T c.830T>A (p.Ile277Asn) | |
6 | g.10404689T>A | CA362701773 | TFAP2A,TFAP2A-AS2 | c.565A>T (p.Ile189Phe) c.589A>T (p.Ile197Phe) c.*80A>T (n.*80A>T) c.154A>T (p.Ile52Phe) c.571A>T (p.Ile191Phe) c.583A>T (p.Ile195Phe) n.637A>T c.297A>T n.583A>T n.825A>T n.554A>T c.718A>T (p.Ile240Phe) c.433A>T (p.Ile145Phe) n.188T>A c.829A>T (p.Ile277Phe) | |
6 | g.10404689T>C | CA362701775 | TFAP2A,TFAP2A-AS2 | c.565A>G (p.Ile189Val) c.589A>G (p.Ile197Val) c.*80A>G (n.*80A>G) c.154A>G (p.Ile52Val) c.571A>G (p.Ile191Val) c.583A>G (p.Ile195Val) n.637A>G c.297A>G n.583A>G n.825A>G n.554A>G c.718A>G (p.Ile240Val) c.433A>G (p.Ile145Val) n.188T>C c.829A>G (p.Ile277Val) | dbSNP gnomAD v4 |
6 | g.10404689T>G | CA362701776 | TFAP2A,TFAP2A-AS2 | c.565A>C (p.Ile189Leu) c.589A>C (p.Ile197Leu) c.*80A>C (n.*80A>C) c.154A>C (p.Ile52Leu) c.571A>C (p.Ile191Leu) c.583A>C (p.Ile195Leu) n.637A>C c.297A>C n.583A>C n.825A>C n.554A>C c.718A>C (p.Ile240Leu) c.433A>C (p.Ile145Leu) n.188T>G c.829A>C (p.Ile277Leu) | |
6 | g.10404689T= | CA1609976797 | TFAP2A,TFAP2A-AS2 | c.565A= (p.Ile189=) c.589A= (p.Ile197=) c.*80A= (n.*80A=) c.154A= (p.Ile52=) c.571A= (p.Ile191=) c.583A= (p.Ile195=) n.637A= c.297A= n.583A= n.825A= n.554A= c.718A= (p.Ile240=) c.433A= (p.Ile145=) n.188T= c.829A= (p.Ile277=) | |
6 | g.10404690A>C | CA448717844 | TFAP2A,TFAP2A-AS2 | c.564T>G (p.Pro188=) c.588T>G (p.Pro196=) c.*79T>G (n.*79T>G) c.153T>G (p.Pro51=) c.570T>G (p.Pro190=) c.582T>G (p.Pro194=) n.636T>G c.296T>G n.582T>G n.824T>G n.553T>G c.717T>G (p.Pro239=) c.432T>G (p.Pro144=) n.189A>C c.828T>G (p.Pro276=) | gnomAD v4 |
6 | g.10404690A>G | CA448717845 | TFAP2A,TFAP2A-AS2 | c.564T>C (p.Pro188=) c.588T>C (p.Pro196=) c.*79T>C (n.*79T>C) c.153T>C (p.Pro51=) c.570T>C (p.Pro190=) c.582T>C (p.Pro194=) n.636T>C c.296T>C n.582T>C n.824T>C n.553T>C c.717T>C (p.Pro239=) c.432T>C (p.Pro144=) n.189A>G c.828T>C (p.Pro276=) | |
6 | g.10404690A>T | CA448717846 | TFAP2A,TFAP2A-AS2 | c.564T>A (p.Pro188=) c.588T>A (p.Pro196=) c.*79T>A (n.*79T>A) c.153T>A (p.Pro51=) c.570T>A (p.Pro190=) c.582T>A (p.Pro194=) n.636T>A c.296T>A n.582T>A n.824T>A n.553T>A c.717T>A (p.Pro239=) c.432T>A (p.Pro144=) n.189A>T c.828T>A (p.Pro276=) | |
6 | g.10404691G>A | CA362701778 | TFAP2A,TFAP2A-AS2 | c.563C>T (p.Pro188Leu) c.587C>T (p.Pro196Leu) c.*78C>T (n.*78C>T) c.152C>T (p.Pro51Leu) c.569C>T (p.Pro190Leu) c.581C>T (p.Pro194Leu) n.635C>T c.295C>T n.581C>T n.823C>T n.552C>T c.716C>T (p.Pro239Leu) c.431C>T (p.Pro144Leu) n.190G>A c.827C>T (p.Pro276Leu) | |
6 | g.10404691G>C | CA362701779 | TFAP2A,TFAP2A-AS2 | c.563C>G (p.Pro188Arg) c.587C>G (p.Pro196Arg) c.*78C>G (n.*78C>G) c.152C>G (p.Pro51Arg) c.569C>G (p.Pro190Arg) c.581C>G (p.Pro194Arg) n.635C>G c.295C>G n.581C>G n.823C>G n.552C>G c.716C>G (p.Pro239Arg) c.431C>G (p.Pro144Arg) n.190G>C c.827C>G (p.Pro276Arg) | |
6 | g.10404691G>T | CA362701781 | TFAP2A,TFAP2A-AS2 | c.563C>A (p.Pro188His) c.587C>A (p.Pro196His) c.*78C>A (n.*78C>A) c.152C>A (p.Pro51His) c.569C>A (p.Pro190His) c.581C>A (p.Pro194His) n.635C>A c.295C>A n.581C>A n.823C>A n.552C>A c.716C>A (p.Pro239His) c.431C>A (p.Pro144His) n.190G>T c.827C>A (p.Pro276His) | |
6 | g.10404692G>A | CA3631286 | TFAP2A,TFAP2A-AS2 | c.562C>T (p.Pro188Ser) c.586C>T (p.Pro196Ser) c.*77C>T (n.*77C>T) c.151C>T (p.Pro51Ser) c.568C>T (p.Pro190Ser) c.580C>T (p.Pro194Ser) n.634C>T c.294C>T n.580C>T n.822C>T n.551C>T c.715C>T (p.Pro239Ser) c.430C>T (p.Pro144Ser) n.191G>A c.826C>T (p.Pro276Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404692G>C | CA362701784 | TFAP2A,TFAP2A-AS2 | c.562C>G (p.Pro188Ala) c.586C>G (p.Pro196Ala) c.*77C>G (n.*77C>G) c.151C>G (p.Pro51Ala) c.568C>G (p.Pro190Ala) c.580C>G (p.Pro194Ala) n.634C>G c.294C>G n.580C>G n.822C>G n.551C>G c.715C>G (p.Pro239Ala) c.430C>G (p.Pro144Ala) n.191G>C c.826C>G (p.Pro276Ala) | |
6 | g.10404692G= | CA1609976798 | TFAP2A,TFAP2A-AS2 | c.562C= (p.Pro188=) c.586C= (p.Pro196=) c.*77C= (n.*77C=) c.151C= (p.Pro51=) c.568C= (p.Pro190=) c.580C= (p.Pro194=) n.634C= c.294C= n.580C= n.822C= n.551C= c.715C= (p.Pro239=) c.430C= (p.Pro144=) n.191G= c.826C= (p.Pro276=) | |
6 | g.10404692G>T | CA362701783 | TFAP2A,TFAP2A-AS2 | c.562C>A (p.Pro188Thr) c.586C>A (p.Pro196Thr) c.*77C>A (n.*77C>A) c.151C>A (p.Pro51Thr) c.568C>A (p.Pro190Thr) c.580C>A (p.Pro194Thr) n.634C>A c.294C>A n.580C>A n.822C>A n.551C>A c.715C>A (p.Pro239Thr) c.430C>A (p.Pro144Thr) n.191G>T c.826C>A (p.Pro276Thr) | |
6 | g.10404693G>A | CA448717854 | TFAP2A,TFAP2A-AS2 | c.561C>T (p.Ile187=) c.585C>T (p.Ile195=) c.*76C>T (n.*76C>T) c.150C>T (p.Ile50=) c.567C>T (p.Ile189=) c.579C>T (p.Ile193=) n.633C>T c.293C>T n.579C>T n.821C>T n.550C>T c.714C>T (p.Ile238=) c.429C>T (p.Ile143=) n.192G>A c.825C>T (p.Ile275=) | gnomAD v4 |
6 | g.10404693G>C | CA362701786 | TFAP2A,TFAP2A-AS2 | c.561C>G (p.Ile187Met) c.585C>G (p.Ile195Met) c.*76C>G (n.*76C>G) c.150C>G (p.Ile50Met) c.567C>G (p.Ile189Met) c.579C>G (p.Ile193Met) n.633C>G c.293C>G n.579C>G n.821C>G n.550C>G c.714C>G (p.Ile238Met) c.429C>G (p.Ile143Met) n.192G>C c.825C>G (p.Ile275Met) | |
6 | g.10404693G= | CA1609976799 | TFAP2A,TFAP2A-AS2 | c.561C= (p.Ile187=) c.585C= (p.Ile195=) c.*76C= (n.*76C=) c.150C= (p.Ile50=) c.567C= (p.Ile189=) c.579C= (p.Ile193=) n.633C= c.293C= n.579C= n.821C= n.550C= c.714C= (p.Ile238=) c.429C= (p.Ile143=) n.192G= c.825C= (p.Ile275=) | |
6 | g.10404693G>T | CA448717856 | TFAP2A,TFAP2A-AS2 | c.561C>A (p.Ile187=) c.585C>A (p.Ile195=) c.*76C>A (n.*76C>A) c.150C>A (p.Ile50=) c.567C>A (p.Ile189=) c.579C>A (p.Ile193=) n.633C>A c.293C>A n.579C>A n.821C>A n.550C>A c.714C>A (p.Ile238=) c.429C>A (p.Ile143=) n.192G>T c.825C>A (p.Ile275=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404694A>C | CA362701788 | TFAP2A,TFAP2A-AS2 | c.560T>G (p.Ile187Ser) c.584T>G (p.Ile195Ser) c.*75T>G (n.*75T>G) c.149T>G (p.Ile50Ser) c.566T>G (p.Ile189Ser) c.578T>G (p.Ile193Ser) n.632T>G c.292T>G n.578T>G n.820T>G n.549T>G c.713T>G (p.Ile238Ser) c.428T>G (p.Ile143Ser) n.193A>C c.824T>G (p.Ile275Ser) | |
6 | g.10404694A>G | CA362701790 | TFAP2A,TFAP2A-AS2 | c.560T>C (p.Ile187Thr) c.584T>C (p.Ile195Thr) c.*75T>C (n.*75T>C) c.149T>C (p.Ile50Thr) c.566T>C (p.Ile189Thr) c.578T>C (p.Ile193Thr) n.632T>C c.292T>C n.578T>C n.820T>C n.549T>C c.713T>C (p.Ile238Thr) c.428T>C (p.Ile143Thr) n.193A>G c.824T>C (p.Ile275Thr) | |
6 | g.10404694A>T | CA362701793 | TFAP2A,TFAP2A-AS2 | c.560T>A (p.Ile187Asn) c.584T>A (p.Ile195Asn) c.*75T>A (n.*75T>A) c.149T>A (p.Ile50Asn) c.566T>A (p.Ile189Asn) c.578T>A (p.Ile193Asn) n.632T>A c.292T>A n.578T>A n.820T>A n.549T>A c.713T>A (p.Ile238Asn) c.428T>A (p.Ile143Asn) n.193A>T c.824T>A (p.Ile275Asn) | |
6 | g.10404695T>A | CA362701796 | TFAP2A,TFAP2A-AS2 | c.559A>T (p.Ile187Phe) c.583A>T (p.Ile195Phe) c.*74A>T (n.*74A>T) c.148A>T (p.Ile50Phe) c.565A>T (p.Ile189Phe) c.577A>T (p.Ile193Phe) n.631A>T c.291A>T n.577A>T n.819A>T n.548A>T c.712A>T (p.Ile238Phe) c.427A>T (p.Ile143Phe) n.194T>A c.823A>T (p.Ile275Phe) | |
6 | g.10404695T>C | CA3631287 | TFAP2A,TFAP2A-AS2 | c.559A>G (p.Ile187Val) c.583A>G (p.Ile195Val) c.*74A>G (n.*74A>G) c.148A>G (p.Ile50Val) c.565A>G (p.Ile189Val) c.577A>G (p.Ile193Val) n.631A>G c.291A>G n.577A>G n.819A>G n.548A>G c.712A>G (p.Ile238Val) c.427A>G (p.Ile143Val) n.194T>C c.823A>G (p.Ile275Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404695T>G | CA362701797 | TFAP2A,TFAP2A-AS2 | c.559A>C (p.Ile187Leu) c.583A>C (p.Ile195Leu) c.*74A>C (n.*74A>C) c.148A>C (p.Ile50Leu) c.565A>C (p.Ile189Leu) c.577A>C (p.Ile193Leu) n.631A>C c.291A>C n.577A>C n.819A>C n.548A>C c.712A>C (p.Ile238Leu) c.427A>C (p.Ile143Leu) n.194T>G c.823A>C (p.Ile275Leu) | |
6 | g.10404695T= | CA1609976800 | TFAP2A,TFAP2A-AS2 | c.559A= (p.Ile187=) c.583A= (p.Ile195=) c.*74A= (n.*74A=) c.148A= (p.Ile50=) c.565A= (p.Ile189=) c.577A= (p.Ile193=) n.631A= c.291A= n.577A= n.819A= n.548A= c.712A= (p.Ile238=) c.427A= (p.Ile143=) n.194T= c.823A= (p.Ile275=) | |
6 | g.10404696G>A | CA448717862 | TFAP2A,TFAP2A-AS2 | c.558C>T (p.Ala186=) c.582C>T (p.Ala194=) c.*73C>T (n.*73C>T) c.147C>T (p.Ala49=) c.564C>T (p.Ala188=) c.576C>T (p.Ala192=) n.630C>T c.290C>T n.576C>T n.818C>T n.547C>T c.711C>T (p.Ala237=) c.426C>T (p.Ala142=) n.195G>A c.822C>T (p.Ala274=) | |
6 | g.10404696G>C | CA448717863 | TFAP2A,TFAP2A-AS2 | c.558C>G (p.Ala186=) c.582C>G (p.Ala194=) c.*73C>G (n.*73C>G) c.147C>G (p.Ala49=) c.564C>G (p.Ala188=) c.576C>G (p.Ala192=) n.630C>G c.290C>G n.576C>G n.818C>G n.547C>G c.711C>G (p.Ala237=) c.426C>G (p.Ala142=) n.195G>C c.822C>G (p.Ala274=) | |
6 | g.10404696G>T | CA448717860 | TFAP2A,TFAP2A-AS2 | c.558C>A (p.Ala186=) c.582C>A (p.Ala194=) c.*73C>A (n.*73C>A) c.147C>A (p.Ala49=) c.564C>A (p.Ala188=) c.576C>A (p.Ala192=) n.630C>A c.290C>A n.576C>A n.818C>A n.547C>A c.711C>A (p.Ala237=) c.426C>A (p.Ala142=) n.195G>T c.822C>A (p.Ala274=) | |
6 | g.10404697G>A | CA362701799 | TFAP2A,TFAP2A-AS2 | c.557C>T (p.Ala186Val) c.581C>T (p.Ala194Val) c.*72C>T (n.*72C>T) c.146C>T (p.Ala49Val) c.563C>T (p.Ala188Val) c.575C>T (p.Ala192Val) n.629C>T c.289C>T n.575C>T n.817C>T n.546C>T c.710C>T (p.Ala237Val) c.425C>T (p.Ala142Val) n.196G>A c.821C>T (p.Ala274Val) | ClinVar dbSNP |
6 | g.10404697G>C | CA362701801 | TFAP2A,TFAP2A-AS2 | c.557C>G (p.Ala186Gly) c.581C>G (p.Ala194Gly) c.*72C>G (n.*72C>G) c.146C>G (p.Ala49Gly) c.563C>G (p.Ala188Gly) c.575C>G (p.Ala192Gly) n.629C>G c.289C>G n.575C>G n.817C>G n.546C>G c.710C>G (p.Ala237Gly) c.425C>G (p.Ala142Gly) n.196G>C c.821C>G (p.Ala274Gly) | |
6 | g.10404697G>T | CA362701802 | TFAP2A,TFAP2A-AS2 | c.557C>A (p.Ala186Asp) c.581C>A (p.Ala194Asp) c.*72C>A (n.*72C>A) c.146C>A (p.Ala49Asp) c.563C>A (p.Ala188Asp) c.575C>A (p.Ala192Asp) n.629C>A c.289C>A n.575C>A n.817C>A n.546C>A c.710C>A (p.Ala237Asp) c.425C>A (p.Ala142Asp) n.196G>T c.821C>A (p.Ala274Asp) | |
6 | g.10404698C>A | CA362701805 | TFAP2A,TFAP2A-AS2 | c.556G>T (p.Ala186Ser) c.580G>T (p.Ala194Ser) c.*71G>T (n.*71G>T) c.145G>T (p.Ala49Ser) c.562G>T (p.Ala188Ser) c.574G>T (p.Ala192Ser) n.628G>T c.288G>T n.574G>T n.816G>T n.545G>T c.709G>T (p.Ala237Ser) c.424G>T (p.Ala142Ser) n.197C>A c.820G>T (p.Ala274Ser) | dbSNP gnomAD v4 |
6 | g.10404698C= | CA1609976801 | TFAP2A,TFAP2A-AS2 | c.556G= (p.Ala186=) c.580G= (p.Ala194=) c.*71G= (n.*71G=) c.145G= (p.Ala49=) c.562G= (p.Ala188=) c.574G= (p.Ala192=) n.628G= c.288G= n.574G= n.816G= n.545G= c.709G= (p.Ala237=) c.424G= (p.Ala142=) n.197C= c.820G= (p.Ala274=) | |
6 | g.10404698C>G | CA362701804 | TFAP2A,TFAP2A-AS2 | c.556G>C (p.Ala186Pro) c.580G>C (p.Ala194Pro) c.*71G>C (n.*71G>C) c.145G>C (p.Ala49Pro) c.562G>C (p.Ala188Pro) c.574G>C (p.Ala192Pro) n.628G>C c.288G>C n.574G>C n.816G>C n.545G>C c.709G>C (p.Ala237Pro) c.424G>C (p.Ala142Pro) n.197C>G c.820G>C (p.Ala274Pro) | |
6 | g.10404698C>T | CA362701803 | TFAP2A,TFAP2A-AS2 | c.556G>A (p.Ala186Thr) c.580G>A (p.Ala194Thr) c.*71G>A (n.*71G>A) c.145G>A (p.Ala49Thr) c.562G>A (p.Ala188Thr) c.574G>A (p.Ala192Thr) n.628G>A c.288G>A n.574G>A n.816G>A n.545G>A c.709G>A (p.Ala237Thr) c.424G>A (p.Ala142Thr) n.197C>T c.820G>A (p.Ala274Thr) | gnomAD v4 |
6 | g.10404699G>A | CA3631288 | TFAP2A,TFAP2A-AS2 | c.555C>T (p.Ser185=) c.579C>T (p.Ser193=) c.*70C>T (n.*70C>T) c.144C>T (p.Ser48=) c.561C>T (p.Ser187=) c.573C>T (p.Ser191=) n.627C>T c.287C>T n.573C>T n.815C>T n.544C>T c.708C>T (p.Ser236=) c.423C>T (p.Ser141=) n.198G>A c.819C>T (p.Ser273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404699G>C | CA448717872 | TFAP2A,TFAP2A-AS2 | c.555C>G (p.Ser185=) c.579C>G (p.Ser193=) c.*70C>G (n.*70C>G) c.144C>G (p.Ser48=) c.561C>G (p.Ser187=) c.573C>G (p.Ser191=) n.627C>G c.287C>G n.573C>G n.815C>G n.544C>G c.708C>G (p.Ser236=) c.423C>G (p.Ser141=) n.198G>C c.819C>G (p.Ser273=) | |
6 | g.10404699G= | CA1609976802 | TFAP2A,TFAP2A-AS2 | c.555C= (p.Ser185=) c.579C= (p.Ser193=) c.*70C= (n.*70C=) c.144C= (p.Ser48=) c.561C= (p.Ser187=) c.573C= (p.Ser191=) n.627C= c.287C= n.573C= n.815C= n.544C= c.708C= (p.Ser236=) c.423C= (p.Ser141=) n.198G= c.819C= (p.Ser273=) | |
6 | g.10404699G>T | CA448717873 | TFAP2A,TFAP2A-AS2 | c.555C>A (p.Ser185=) c.579C>A (p.Ser193=) c.*70C>A (n.*70C>A) c.144C>A (p.Ser48=) c.561C>A (p.Ser187=) c.573C>A (p.Ser191=) n.627C>A c.287C>A n.573C>A n.815C>A n.544C>A c.708C>A (p.Ser236=) c.423C>A (p.Ser141=) n.198G>T c.819C>A (p.Ser273=) | |
6 | g.10404700G>A | CA362701816 | TFAP2A,TFAP2A-AS2 | c.554C>T (p.Ser185Phe) c.578C>T (p.Ser193Phe) c.*69C>T (n.*69C>T) c.143C>T (p.Ser48Phe) c.560C>T (p.Ser187Phe) c.572C>T (p.Ser191Phe) n.626C>T c.286C>T n.572C>T n.814C>T n.543C>T c.707C>T (p.Ser236Phe) c.422C>T (p.Ser141Phe) n.199G>A c.818C>T (p.Ser273Phe) | COSMIC COSMIC COSMIC |
6 | g.10404700G>C | CA362701809 | TFAP2A,TFAP2A-AS2 | c.554C>G (p.Ser185Cys) c.578C>G (p.Ser193Cys) c.*69C>G (n.*69C>G) c.143C>G (p.Ser48Cys) c.560C>G (p.Ser187Cys) c.572C>G (p.Ser191Cys) n.626C>G c.286C>G n.572C>G n.814C>G n.543C>G c.707C>G (p.Ser236Cys) c.422C>G (p.Ser141Cys) n.199G>C c.818C>G (p.Ser273Cys) | COSMIC COSMIC COSMIC |
6 | g.10404700G>T | CA362701815 | TFAP2A,TFAP2A-AS2 | c.554C>A (p.Ser185Tyr) c.578C>A (p.Ser193Tyr) c.*69C>A (n.*69C>A) c.143C>A (p.Ser48Tyr) c.560C>A (p.Ser187Tyr) c.572C>A (p.Ser191Tyr) n.626C>A c.286C>A n.572C>A n.814C>A n.543C>A c.707C>A (p.Ser236Tyr) c.422C>A (p.Ser141Tyr) n.199G>T c.818C>A (p.Ser273Tyr) | |
6 | g.10404701A>C | CA362701820 | TFAP2A,TFAP2A-AS2 | c.553T>G (p.Ser185Ala) c.577T>G (p.Ser193Ala) c.*68T>G (n.*68T>G) c.142T>G (p.Ser48Ala) c.559T>G (p.Ser187Ala) c.571T>G (p.Ser191Ala) n.625T>G c.285T>G n.571T>G n.813T>G n.542T>G c.706T>G (p.Ser236Ala) c.421T>G (p.Ser141Ala) n.200A>C c.817T>G (p.Ser273Ala) | |
6 | g.10404701A>G | CA362701821 | TFAP2A,TFAP2A-AS2 | c.553T>C (p.Ser185Pro) c.577T>C (p.Ser193Pro) c.*68T>C (n.*68T>C) c.142T>C (p.Ser48Pro) c.559T>C (p.Ser187Pro) c.571T>C (p.Ser191Pro) n.625T>C c.285T>C n.571T>C n.813T>C n.542T>C c.706T>C (p.Ser236Pro) c.421T>C (p.Ser141Pro) n.200A>G c.817T>C (p.Ser273Pro) | |
6 | g.10404701A>T | CA362701822 | TFAP2A,TFAP2A-AS2 | c.553T>A (p.Ser185Thr) c.577T>A (p.Ser193Thr) c.*68T>A (n.*68T>A) c.142T>A (p.Ser48Thr) c.559T>A (p.Ser187Thr) c.571T>A (p.Ser191Thr) n.625T>A c.285T>A n.571T>A n.813T>A n.542T>A c.706T>A (p.Ser236Thr) c.421T>A (p.Ser141Thr) n.200A>T c.817T>A (p.Ser273Thr) | |
6 | g.10404702G>A | CA448717879 | TFAP2A,TFAP2A-AS2 | c.552C>T (p.Val184=) c.576C>T (p.Val192=) c.*67C>T (n.*67C>T) c.141C>T (p.Val47=) c.558C>T (p.Val186=) c.570C>T (p.Val190=) n.624C>T c.284C>T n.570C>T n.812C>T n.541C>T c.705C>T (p.Val235=) c.420C>T (p.Val140=) n.201G>A c.816C>T (p.Val272=) | gnomAD v4 |
6 | g.10404702G>C | CA448717878 | TFAP2A,TFAP2A-AS2 | c.552C>G (p.Val184=) c.576C>G (p.Val192=) c.*67C>G (n.*67C>G) c.141C>G (p.Val47=) c.558C>G (p.Val186=) c.570C>G (p.Val190=) n.624C>G c.284C>G n.570C>G n.812C>G n.541C>G c.705C>G (p.Val235=) c.420C>G (p.Val140=) n.201G>C c.816C>G (p.Val272=) | |
6 | g.10404702G>T | CA448717877 | TFAP2A,TFAP2A-AS2 | c.552C>A (p.Val184=) c.576C>A (p.Val192=) c.*67C>A (n.*67C>A) c.141C>A (p.Val47=) c.558C>A (p.Val186=) c.570C>A (p.Val190=) n.624C>A c.284C>A n.570C>A n.812C>A n.541C>A c.705C>A (p.Val235=) c.420C>A (p.Val140=) n.201G>T c.816C>A (p.Val272=) | |
6 | g.10404703A= | CA1609976803 | TFAP2A,TFAP2A-AS2 | c.551T= (p.Val184=) c.575T= (p.Val192=) c.*66T= (n.*66T=) c.140T= (p.Val47=) c.557T= (p.Val186=) c.569T= (p.Val190=) n.623T= c.283T= n.569T= n.811T= n.540T= c.704T= (p.Val235=) c.419T= (p.Val140=) n.202A= c.815T= (p.Val272=) | |
6 | g.10404703A>C | CA362701825 | TFAP2A,TFAP2A-AS2 | c.551T>G (p.Val184Gly) c.575T>G (p.Val192Gly) c.*66T>G (n.*66T>G) c.140T>G (p.Val47Gly) c.557T>G (p.Val186Gly) c.569T>G (p.Val190Gly) n.623T>G c.283T>G n.569T>G n.811T>G n.540T>G c.704T>G (p.Val235Gly) c.419T>G (p.Val140Gly) n.202A>C c.815T>G (p.Val272Gly) | |
6 | g.10404703A>G | CA362701824 | TFAP2A,TFAP2A-AS2 | c.551T>C (p.Val184Ala) c.575T>C (p.Val192Ala) c.*66T>C (n.*66T>C) c.140T>C (p.Val47Ala) c.557T>C (p.Val186Ala) c.569T>C (p.Val190Ala) n.623T>C c.283T>C n.569T>C n.811T>C n.540T>C c.704T>C (p.Val235Ala) c.419T>C (p.Val140Ala) n.202A>G c.815T>C (p.Val272Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404703A>T | CA362701823 | TFAP2A,TFAP2A-AS2 | c.551T>A (p.Val184Asp) c.575T>A (p.Val192Asp) c.*66T>A (n.*66T>A) c.140T>A (p.Val47Asp) c.557T>A (p.Val186Asp) c.569T>A (p.Val190Asp) n.623T>A c.283T>A n.569T>A n.811T>A n.540T>A c.704T>A (p.Val235Asp) c.419T>A (p.Val140Asp) n.202A>T c.815T>A (p.Val272Asp) | |
6 | g.10404704C>A | CA362701826 | TFAP2A,TFAP2A-AS2 | c.550G>T (p.Val184Phe) c.574G>T (p.Val192Phe) c.*65G>T (n.*65G>T) c.139G>T (p.Val47Phe) c.556G>T (p.Val186Phe) c.568G>T (p.Val190Phe) n.622G>T c.282G>T n.568G>T n.810G>T n.539G>T c.703G>T (p.Val235Phe) c.418G>T (p.Val140Phe) n.203C>A c.814G>T (p.Val272Phe) | |
6 | g.10404704C= | CA1609976804 | TFAP2A,TFAP2A-AS2 | c.550G= (p.Val184=) c.574G= (p.Val192=) c.*65G= (n.*65G=) c.139G= (p.Val47=) c.556G= (p.Val186=) c.568G= (p.Val190=) n.622G= c.282G= n.568G= n.810G= n.539G= c.703G= (p.Val235=) c.418G= (p.Val140=) n.203C= c.814G= (p.Val272=) | |
6 | g.10404704C>G | CA362701827 | TFAP2A,TFAP2A-AS2 | c.550G>C (p.Val184Leu) c.574G>C (p.Val192Leu) c.*65G>C (n.*65G>C) c.139G>C (p.Val47Leu) c.556G>C (p.Val186Leu) c.568G>C (p.Val190Leu) n.622G>C c.282G>C n.568G>C n.810G>C n.539G>C c.703G>C (p.Val235Leu) c.418G>C (p.Val140Leu) n.203C>G c.814G>C (p.Val272Leu) | |
6 | g.10404704C>T | CA362701829 | TFAP2A,TFAP2A-AS2 | c.550G>A (p.Val184Ile) c.574G>A (p.Val192Ile) c.*65G>A (n.*65G>A) c.139G>A (p.Val47Ile) c.556G>A (p.Val186Ile) c.568G>A (p.Val190Ile) n.622G>A c.282G>A n.568G>A n.810G>A n.539G>A c.703G>A (p.Val235Ile) c.418G>A (p.Val140Ile) n.203C>T c.814G>A (p.Val272Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404705G>A | CA448717883 | TFAP2A,TFAP2A-AS2 | c.549C>T (p.Ala183=) c.573C>T (p.Ala191=) c.*64C>T (n.*64C>T) c.138C>T (p.Ala46=) c.555C>T (p.Ala185=) c.567C>T (p.Ala189=) n.621C>T c.281C>T n.567C>T n.809C>T n.538C>T c.702C>T (p.Ala234=) c.417C>T (p.Ala139=) n.204G>A c.813C>T (p.Ala271=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404705G>C | CA448717885 | TFAP2A,TFAP2A-AS2 | c.549C>G (p.Ala183=) c.573C>G (p.Ala191=) c.*64C>G (n.*64C>G) c.138C>G (p.Ala46=) c.555C>G (p.Ala185=) c.567C>G (p.Ala189=) n.621C>G c.281C>G n.567C>G n.809C>G n.538C>G c.702C>G (p.Ala234=) c.417C>G (p.Ala139=) n.204G>C c.813C>G (p.Ala271=) | |
6 | g.10404705G= | CA1609976805 | TFAP2A,TFAP2A-AS2 | c.549C= (p.Ala183=) c.573C= (p.Ala191=) c.*64C= (n.*64C=) c.138C= (p.Ala46=) c.555C= (p.Ala185=) c.567C= (p.Ala189=) n.621C= c.281C= n.567C= n.809C= n.538C= c.702C= (p.Ala234=) c.417C= (p.Ala139=) n.204G= c.813C= (p.Ala271=) | |
6 | g.10404705G>T | CA448717886 | TFAP2A,TFAP2A-AS2 | c.549C>A (p.Ala183=) c.573C>A (p.Ala191=) c.*64C>A (n.*64C>A) c.138C>A (p.Ala46=) c.555C>A (p.Ala185=) c.567C>A (p.Ala189=) n.621C>A c.281C>A n.567C>A n.809C>A n.538C>A c.702C>A (p.Ala234=) c.417C>A (p.Ala139=) n.204G>T c.813C>A (p.Ala271=) | |
6 | g.10404706G>A | CA362701830 | TFAP2A,TFAP2A-AS2 | c.548C>T (p.Ala183Val) c.572C>T (p.Ala191Val) c.*63C>T (n.*63C>T) c.137C>T (p.Ala46Val) c.554C>T (p.Ala185Val) c.566C>T (p.Ala189Val) n.620C>T c.280C>T n.566C>T n.808C>T n.537C>T c.701C>T (p.Ala234Val) c.416C>T (p.Ala139Val) n.205G>A c.812C>T (p.Ala271Val) | gnomAD v4 |
6 | g.10404706G>C | CA362701831 | TFAP2A,TFAP2A-AS2 | c.548C>G (p.Ala183Gly) c.572C>G (p.Ala191Gly) c.*63C>G (n.*63C>G) c.137C>G (p.Ala46Gly) c.554C>G (p.Ala185Gly) c.566C>G (p.Ala189Gly) n.620C>G c.280C>G n.566C>G n.808C>G n.537C>G c.701C>G (p.Ala234Gly) c.416C>G (p.Ala139Gly) n.205G>C c.812C>G (p.Ala271Gly) | dbSNP |
6 | g.10404706G= | CA1609976806 | TFAP2A,TFAP2A-AS2 | c.548C= (p.Ala183=) c.572C= (p.Ala191=) c.*63C= (n.*63C=) c.137C= (p.Ala46=) c.554C= (p.Ala185=) c.566C= (p.Ala189=) n.620C= c.280C= n.566C= n.808C= n.537C= c.701C= (p.Ala234=) c.416C= (p.Ala139=) n.205G= c.812C= (p.Ala271=) | |
6 | g.10404706G>T | CA362701832 | TFAP2A,TFAP2A-AS2 | c.548C>A (p.Ala183Asp) c.572C>A (p.Ala191Asp) c.*63C>A (n.*63C>A) c.137C>A (p.Ala46Asp) c.554C>A (p.Ala185Asp) c.566C>A (p.Ala189Asp) n.620C>A c.280C>A n.566C>A n.808C>A n.537C>A c.701C>A (p.Ala234Asp) c.416C>A (p.Ala139Asp) n.205G>T c.812C>A (p.Ala271Asp) | |
6 | g.10404707C>A | CA362701836 | TFAP2A,TFAP2A-AS2 | c.547G>T (p.Ala183Ser) c.571G>T (p.Ala191Ser) c.*62G>T (n.*62G>T) c.136G>T (p.Ala46Ser) c.553G>T (p.Ala185Ser) c.565G>T (p.Ala189Ser) n.619G>T c.279G>T n.565G>T n.807G>T n.536G>T c.700G>T (p.Ala234Ser) c.415G>T (p.Ala139Ser) n.206C>A c.811G>T (p.Ala271Ser) | |
6 | g.10404707C>G | CA362701833 | TFAP2A,TFAP2A-AS2 | c.547G>C (p.Ala183Pro) c.571G>C (p.Ala191Pro) c.*62G>C (n.*62G>C) c.136G>C (p.Ala46Pro) c.553G>C (p.Ala185Pro) c.565G>C (p.Ala189Pro) n.619G>C c.279G>C n.565G>C n.807G>C n.536G>C c.700G>C (p.Ala234Pro) c.415G>C (p.Ala139Pro) n.206C>G c.811G>C (p.Ala271Pro) | |
6 | g.10404707C>T | CA362701835 | TFAP2A,TFAP2A-AS2 | c.547G>A (p.Ala183Thr) c.571G>A (p.Ala191Thr) c.*62G>A (n.*62G>A) c.136G>A (p.Ala46Thr) c.553G>A (p.Ala185Thr) c.565G>A (p.Ala189Thr) n.619G>A c.279G>A n.565G>A n.807G>A n.536G>A c.700G>A (p.Ala234Thr) c.415G>A (p.Ala139Thr) n.206C>T c.811G>A (p.Ala271Thr) | |
6 | g.10404708A>C | CA362701838 | TFAP2A,TFAP2A-AS2 | c.546T>G (p.Asn182Lys) c.570T>G (p.Asn190Lys) c.*61T>G (n.*61T>G) c.135T>G (p.Asn45Lys) c.552T>G (p.Asn184Lys) c.564T>G (p.Asn188Lys) n.618T>G c.278T>G n.564T>G n.806T>G n.535T>G c.699T>G (p.Asn233Lys) c.414T>G (p.Asn138Lys) n.207A>C c.810T>G (p.Asn270Lys) | |
6 | g.10404708A>G | CA448717889 | TFAP2A,TFAP2A-AS2 | c.546T>C (p.Asn182=) c.570T>C (p.Asn190=) c.*61T>C (n.*61T>C) c.135T>C (p.Asn45=) c.552T>C (p.Asn184=) c.564T>C (p.Asn188=) n.618T>C c.278T>C n.564T>C n.806T>C n.535T>C c.699T>C (p.Asn233=) c.414T>C (p.Asn138=) n.207A>G c.810T>C (p.Asn270=) | |
6 | g.10404708A>T | CA362701840 | TFAP2A,TFAP2A-AS2 | c.546T>A (p.Asn182Lys) c.570T>A (p.Asn190Lys) c.*61T>A (n.*61T>A) c.135T>A (p.Asn45Lys) c.552T>A (p.Asn184Lys) c.564T>A (p.Asn188Lys) n.618T>A c.278T>A n.564T>A n.806T>A n.535T>A c.699T>A (p.Asn233Lys) c.414T>A (p.Asn138Lys) n.207A>T c.810T>A (p.Asn270Lys) | |
6 | g.10404709T>A | CA362701842 | TFAP2A,TFAP2A-AS2 | c.545A>T (p.Asn182Ile) c.569A>T (p.Asn190Ile) c.*60A>T (n.*60A>T) c.134A>T (p.Asn45Ile) c.551A>T (p.Asn184Ile) c.563A>T (p.Asn188Ile) n.617A>T c.277A>T n.563A>T n.805A>T n.534A>T c.698A>T (p.Asn233Ile) c.413A>T (p.Asn138Ile) n.208T>A c.809A>T (p.Asn270Ile) | |
6 | g.10404709T>C | CA3631289 | TFAP2A,TFAP2A-AS2 | c.545A>G (p.Asn182Ser) c.569A>G (p.Asn190Ser) c.*60A>G (n.*60A>G) c.134A>G (p.Asn45Ser) c.551A>G (p.Asn184Ser) c.563A>G (p.Asn188Ser) n.617A>G c.277A>G n.563A>G n.805A>G n.534A>G c.698A>G (p.Asn233Ser) c.413A>G (p.Asn138Ser) n.208T>C c.809A>G (p.Asn270Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404709T>G | CA362701844 | TFAP2A,TFAP2A-AS2 | c.545A>C (p.Asn182Thr) c.569A>C (p.Asn190Thr) c.*60A>C (n.*60A>C) c.134A>C (p.Asn45Thr) c.551A>C (p.Asn184Thr) c.563A>C (p.Asn188Thr) n.617A>C c.277A>C n.563A>C n.805A>C n.534A>C c.698A>C (p.Asn233Thr) c.413A>C (p.Asn138Thr) n.208T>G c.809A>C (p.Asn270Thr) | |
6 | g.10404709T= | CA1609976807 | TFAP2A,TFAP2A-AS2 | c.545A= (p.Asn182=) c.569A= (p.Asn190=) c.*60A= (n.*60A=) c.134A= (p.Asn45=) c.551A= (p.Asn184=) c.563A= (p.Asn188=) n.617A= c.277A= n.563A= n.805A= n.534A= c.698A= (p.Asn233=) c.413A= (p.Asn138=) n.208T= c.809A= (p.Asn270=) | |
6 | g.10404710T>A | CA362701845 | TFAP2A,TFAP2A-AS2 | c.544A>T (p.Asn182Tyr) c.568A>T (p.Asn190Tyr) c.*59A>T (n.*59A>T) c.133A>T (p.Asn45Tyr) c.550A>T (p.Asn184Tyr) c.562A>T (p.Asn188Tyr) n.616A>T c.276A>T n.562A>T n.804A>T n.533A>T c.697A>T (p.Asn233Tyr) c.412A>T (p.Asn138Tyr) n.209T>A c.808A>T (p.Asn270Tyr) | |
6 | g.10404710T>C | CA362701847 | TFAP2A,TFAP2A-AS2 | c.544A>G (p.Asn182Asp) c.568A>G (p.Asn190Asp) c.*59A>G (n.*59A>G) c.133A>G (p.Asn45Asp) c.550A>G (p.Asn184Asp) c.562A>G (p.Asn188Asp) n.616A>G c.276A>G n.562A>G n.804A>G n.533A>G c.697A>G (p.Asn233Asp) c.412A>G (p.Asn138Asp) n.209T>C c.808A>G (p.Asn270Asp) | |
6 | g.10404710T>G | CA362701849 | TFAP2A,TFAP2A-AS2 | c.544A>C (p.Asn182His) c.568A>C (p.Asn190His) c.*59A>C (n.*59A>C) c.133A>C (p.Asn45His) c.550A>C (p.Asn184His) c.562A>C (p.Asn188His) n.616A>C c.276A>C n.562A>C n.804A>C n.533A>C c.697A>C (p.Asn233His) c.412A>C (p.Asn138His) n.209T>G c.808A>C (p.Asn270His) | |
6 | g.10404711G>A | CA448717901 | TFAP2A,TFAP2A-AS2 | c.543C>T (p.Ser181=) c.567C>T (p.Ser189=) c.*58C>T (n.*58C>T) c.132C>T (p.Ser44=) c.549C>T (p.Ser183=) c.561C>T (p.Ser187=) n.615C>T c.275C>T n.561C>T n.803C>T n.532C>T c.696C>T (p.Ser232=) c.411C>T (p.Ser137=) n.210G>A c.807C>T (p.Ser269=) | |
6 | g.10404711G>C | CA362701860 | TFAP2A,TFAP2A-AS2 | c.543C>G (p.Ser181Arg) c.567C>G (p.Ser189Arg) c.*58C>G (n.*58C>G) c.132C>G (p.Ser44Arg) c.549C>G (p.Ser183Arg) c.561C>G (p.Ser187Arg) n.615C>G c.275C>G n.561C>G n.803C>G n.532C>G c.696C>G (p.Ser232Arg) c.411C>G (p.Ser137Arg) n.210G>C c.807C>G (p.Ser269Arg) | |
6 | g.10404711G>T | CA362701866 | TFAP2A,TFAP2A-AS2 | c.543C>A (p.Ser181Arg) c.567C>A (p.Ser189Arg) c.*58C>A (n.*58C>A) c.132C>A (p.Ser44Arg) c.549C>A (p.Ser183Arg) c.561C>A (p.Ser187Arg) n.615C>A c.275C>A n.561C>A n.803C>A n.532C>A c.696C>A (p.Ser232Arg) c.411C>A (p.Ser137Arg) n.210G>T c.807C>A (p.Ser269Arg) | |
6 | g.10404712C>A | CA362701869 | TFAP2A,TFAP2A-AS2 | c.542G>T (p.Ser181Ile) c.566G>T (p.Ser189Ile) c.*57G>T (n.*57G>T) c.131G>T (p.Ser44Ile) c.548G>T (p.Ser183Ile) c.560G>T (p.Ser187Ile) n.614G>T c.274G>T n.560G>T n.802G>T n.531G>T c.695G>T (p.Ser232Ile) c.410G>T (p.Ser137Ile) n.211C>A c.806G>T (p.Ser269Ile) | |
6 | g.10404712C= | CA1609976808 | TFAP2A,TFAP2A-AS2 | c.542G= (p.Ser181=) c.566G= (p.Ser189=) c.*57G= (n.*57G=) c.131G= (p.Ser44=) c.548G= (p.Ser183=) c.560G= (p.Ser187=) n.614G= c.274G= n.560G= n.802G= n.531G= c.695G= (p.Ser232=) c.410G= (p.Ser137=) n.211C= c.806G= (p.Ser269=) | |
6 | g.10404712C>G | CA362701873 | TFAP2A,TFAP2A-AS2 | c.542G>C (p.Ser181Thr) c.566G>C (p.Ser189Thr) c.*57G>C (n.*57G>C) c.131G>C (p.Ser44Thr) c.548G>C (p.Ser183Thr) c.560G>C (p.Ser187Thr) n.614G>C c.274G>C n.560G>C n.802G>C n.531G>C c.695G>C (p.Ser232Thr) c.410G>C (p.Ser137Thr) n.211C>G c.806G>C (p.Ser269Thr) | |
6 | g.10404712C>T | CA362701875 | TFAP2A,TFAP2A-AS2 | c.542G>A (p.Ser181Asn) c.566G>A (p.Ser189Asn) c.*57G>A (n.*57G>A) c.131G>A (p.Ser44Asn) c.548G>A (p.Ser183Asn) c.560G>A (p.Ser187Asn) n.614G>A c.274G>A n.560G>A n.802G>A n.531G>A c.695G>A (p.Ser232Asn) c.410G>A (p.Ser137Asn) n.211C>T c.806G>A (p.Ser269Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.10404713T>A | CA362701878 | TFAP2A,TFAP2A-AS2 | c.541A>T (p.Ser181Cys) c.565A>T (p.Ser189Cys) c.*56A>T (n.*56A>T) c.130A>T (p.Ser44Cys) c.547A>T (p.Ser183Cys) c.559A>T (p.Ser187Cys) n.613A>T c.273A>T n.559A>T n.801A>T n.530A>T c.694A>T (p.Ser232Cys) c.409A>T (p.Ser137Cys) n.212T>A c.805A>T (p.Ser269Cys) | |
6 | g.10404713T>C | CA362701885 | TFAP2A,TFAP2A-AS2 | c.541A>G (p.Ser181Gly) c.565A>G (p.Ser189Gly) c.*56A>G (n.*56A>G) c.130A>G (p.Ser44Gly) c.547A>G (p.Ser183Gly) c.559A>G (p.Ser187Gly) n.613A>G c.273A>G n.559A>G n.801A>G n.530A>G c.694A>G (p.Ser232Gly) c.409A>G (p.Ser137Gly) n.212T>C c.805A>G (p.Ser269Gly) | |
6 | g.10404713T>G | CA362701883 | TFAP2A,TFAP2A-AS2 | c.541A>C (p.Ser181Arg) c.565A>C (p.Ser189Arg) c.*56A>C (n.*56A>C) c.130A>C (p.Ser44Arg) c.547A>C (p.Ser183Arg) c.559A>C (p.Ser187Arg) n.613A>C c.273A>C n.559A>C n.801A>C n.530A>C c.694A>C (p.Ser232Arg) c.409A>C (p.Ser137Arg) n.212T>G c.805A>C (p.Ser269Arg) | |
6 | g.10404714G>A | CA448717910 | TFAP2A,TFAP2A-AS2 | c.540C>T (p.Asn180=) c.564C>T (p.Asn188=) c.*55C>T (n.*55C>T) c.129C>T (p.Asn43=) c.546C>T (p.Asn182=) c.558C>T (p.Asn186=) n.612C>T c.272C>T n.558C>T n.800C>T n.529C>T c.693C>T (p.Asn231=) c.408C>T (p.Asn136=) n.213G>A c.804C>T (p.Asn268=) | |
6 | g.10404714G>C | CA362701886 | TFAP2A,TFAP2A-AS2 | c.540C>G (p.Asn180Lys) c.564C>G (p.Asn188Lys) c.*55C>G (n.*55C>G) c.129C>G (p.Asn43Lys) c.546C>G (p.Asn182Lys) c.558C>G (p.Asn186Lys) n.612C>G c.272C>G n.558C>G n.800C>G n.529C>G c.693C>G (p.Asn231Lys) c.408C>G (p.Asn136Lys) n.213G>C c.804C>G (p.Asn268Lys) | |
6 | g.10404714G>T | CA362701887 | TFAP2A,TFAP2A-AS2 | c.540C>A (p.Asn180Lys) c.564C>A (p.Asn188Lys) c.*55C>A (n.*55C>A) c.129C>A (p.Asn43Lys) c.546C>A (p.Asn182Lys) c.558C>A (p.Asn186Lys) n.612C>A c.272C>A n.558C>A n.800C>A n.529C>A c.693C>A (p.Asn231Lys) c.408C>A (p.Asn136Lys) n.213G>T c.804C>A (p.Asn268Lys) | |
6 | g.10404714_10404720delinsGTTGGAC | CA1609976809 | TFAP2A,TFAP2A-AS2 | c.534_540delinsGTCCAAC (p.Lys178=) c.558_564delinsGTCCAAC (p.Lys186=) c.*49_*55delinsGTCCAAC (n.*49_*55delinsGTCCAAC) c.123_129delinsGTCCAAC (p.Lys41=) c.540_546delinsGTCCAAC (p.Lys180=) c.552_558delinsGTCCAAC (p.Lys184=) n.606_612delinsGTCCAAC c.266_272delinsGTCCAAC n.552_558delinsGTCCAAC n.794_800delinsGTCCAAC n.523_529delinsGTCCAAC c.687_693delinsGTCCAAC (p.Lys229=) c.402_408delinsGTCCAAC (p.Lys134=) n.213_219delinsGTTGGAC c.798_804delinsGTCCAAC (p.Lys266=) | |
6 | g.10404715T>A | CA362701888 | TFAP2A,TFAP2A-AS2 | c.539A>T (p.Asn180Ile) c.563A>T (p.Asn188Ile) c.*54A>T (n.*54A>T) c.128A>T (p.Asn43Ile) c.545A>T (p.Asn182Ile) c.557A>T (p.Asn186Ile) n.611A>T c.271A>T n.557A>T n.799A>T n.528A>T c.692A>T (p.Asn231Ile) c.407A>T (p.Asn136Ile) n.214T>A c.803A>T (p.Asn268Ile) | gnomAD v4 |
6 | g.10404715T>C | CA362701889 | TFAP2A,TFAP2A-AS2 | c.539A>G (p.Asn180Ser) c.563A>G (p.Asn188Ser) c.*54A>G (n.*54A>G) c.128A>G (p.Asn43Ser) c.545A>G (p.Asn182Ser) c.557A>G (p.Asn186Ser) n.611A>G c.271A>G n.557A>G n.799A>G n.528A>G c.692A>G (p.Asn231Ser) c.407A>G (p.Asn136Ser) n.214T>C c.803A>G (p.Asn268Ser) | dbSNP gnomAD v4 |
6 | g.10404715T>G | CA362701890 | TFAP2A,TFAP2A-AS2 | c.539A>C (p.Asn180Thr) c.563A>C (p.Asn188Thr) c.*54A>C (n.*54A>C) c.128A>C (p.Asn43Thr) c.545A>C (p.Asn182Thr) c.557A>C (p.Asn186Thr) n.611A>C c.271A>C n.557A>C n.799A>C n.528A>C c.692A>C (p.Asn231Thr) c.407A>C (p.Asn136Thr) n.214T>G c.803A>C (p.Asn268Thr) | |
6 | g.10404715T= | CA1609976810 | TFAP2A,TFAP2A-AS2 | c.539A= (p.Asn180=) c.563A= (p.Asn188=) c.*54A= (n.*54A=) c.128A= (p.Asn43=) c.545A= (p.Asn182=) c.557A= (p.Asn186=) n.611A= c.271A= n.557A= n.799A= n.528A= c.692A= (p.Asn231=) c.407A= (p.Asn136=) n.214T= c.803A= (p.Asn268=) | |
6 | g.10404721_10404726del | CA3631290 | TFAP2A,TFAP2A-AS2 | c.534_539del (p.Lys178_Ser179del) c.558_563del (p.Lys186_Ser187del) c.*49_*54del (n.*49_*54del) c.123_128del (p.Lys41_Ser42del) c.540_545del (p.Lys180_Ser181del) c.552_557del (p.Lys184_Ser185del) n.606_611del c.266_271del n.552_557del n.794_799del n.523_528del c.687_692del (p.Lys229_Ser230del) c.402_407del (p.Lys134_Ser135del) n.220_225del c.798_803del (p.Lys266_Ser267del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404716T>A | CA362701893 | TFAP2A,TFAP2A-AS2 | c.538A>T (p.Asn180Tyr) c.562A>T (p.Asn188Tyr) c.*53A>T (n.*53A>T) c.127A>T (p.Asn43Tyr) c.544A>T (p.Asn182Tyr) c.556A>T (p.Asn186Tyr) n.610A>T c.270A>T n.556A>T n.798A>T n.527A>T c.691A>T (p.Asn231Tyr) c.406A>T (p.Asn136Tyr) n.215T>A c.802A>T (p.Asn268Tyr) | |
6 | g.10404716T>C | CA3631291 | TFAP2A,TFAP2A-AS2 | c.538A>G (p.Asn180Asp) c.562A>G (p.Asn188Asp) c.*53A>G (n.*53A>G) c.127A>G (p.Asn43Asp) c.544A>G (p.Asn182Asp) c.556A>G (p.Asn186Asp) n.610A>G c.270A>G n.556A>G n.798A>G n.527A>G c.691A>G (p.Asn231Asp) c.406A>G (p.Asn136Asp) n.215T>C c.802A>G (p.Asn268Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404716T>G | CA362701897 | TFAP2A,TFAP2A-AS2 | c.538A>C (p.Asn180His) c.562A>C (p.Asn188His) c.*53A>C (n.*53A>C) c.127A>C (p.Asn43His) c.544A>C (p.Asn182His) c.556A>C (p.Asn186His) n.610A>C c.270A>C n.556A>C n.798A>C n.527A>C c.691A>C (p.Asn231His) c.406A>C (p.Asn136His) n.215T>G c.802A>C (p.Asn268His) | dbSNP |
6 | g.10404716T= | CA1609976811 | TFAP2A,TFAP2A-AS2 | c.538A= (p.Asn180=) c.562A= (p.Asn188=) c.*53A= (n.*53A=) c.127A= (p.Asn43=) c.544A= (p.Asn182=) c.556A= (p.Asn186=) n.610A= c.270A= n.556A= n.798A= n.527A= c.691A= (p.Asn231=) c.406A= (p.Asn136=) n.215T= c.802A= (p.Asn268=) | |
6 | g.10404717G>A | CA448717920 | TFAP2A,TFAP2A-AS2 | c.537C>T (p.Ser179=) c.561C>T (p.Ser187=) c.*52C>T (n.*52C>T) c.126C>T (p.Ser42=) c.543C>T (p.Ser181=) c.555C>T (p.Ser185=) n.609C>T c.269C>T n.555C>T n.797C>T n.526C>T c.690C>T (p.Ser230=) c.405C>T (p.Ser135=) n.216G>A c.801C>T (p.Ser267=) | |
6 | g.10404717G>C | CA448717919 | TFAP2A,TFAP2A-AS2 | c.537C>G (p.Ser179=) c.561C>G (p.Ser187=) c.*52C>G (n.*52C>G) c.126C>G (p.Ser42=) c.543C>G (p.Ser181=) c.555C>G (p.Ser185=) n.609C>G c.269C>G n.555C>G n.797C>G n.526C>G c.690C>G (p.Ser230=) c.405C>G (p.Ser135=) n.216G>C c.801C>G (p.Ser267=) | |
6 | g.10404717G>T | CA448717917 | TFAP2A,TFAP2A-AS2 | c.537C>A (p.Ser179=) c.561C>A (p.Ser187=) c.*52C>A (n.*52C>A) c.126C>A (p.Ser42=) c.543C>A (p.Ser181=) c.555C>A (p.Ser185=) n.609C>A c.269C>A n.555C>A n.797C>A n.526C>A c.690C>A (p.Ser230=) c.405C>A (p.Ser135=) n.216G>T c.801C>A (p.Ser267=) | |
6 | g.10404718G>A | CA362701898 | TFAP2A,TFAP2A-AS2 | c.536C>T (p.Ser179Phe) c.560C>T (p.Ser187Phe) c.*51C>T (n.*51C>T) c.125C>T (p.Ser42Phe) c.542C>T (p.Ser181Phe) c.554C>T (p.Ser185Phe) n.608C>T c.268C>T n.554C>T n.796C>T n.525C>T c.689C>T (p.Ser230Phe) c.404C>T (p.Ser135Phe) n.217G>A c.800C>T (p.Ser267Phe) | |
6 | g.10404718G>C | CA362701900 | TFAP2A,TFAP2A-AS2 | c.536C>G (p.Ser179Cys) c.560C>G (p.Ser187Cys) c.*51C>G (n.*51C>G) c.125C>G (p.Ser42Cys) c.542C>G (p.Ser181Cys) c.554C>G (p.Ser185Cys) n.608C>G c.268C>G n.554C>G n.796C>G n.525C>G c.689C>G (p.Ser230Cys) c.404C>G (p.Ser135Cys) n.217G>C c.800C>G (p.Ser267Cys) | |
6 | g.10404718G>T | CA362701902 | TFAP2A,TFAP2A-AS2 | c.536C>A (p.Ser179Tyr) c.560C>A (p.Ser187Tyr) c.*51C>A (n.*51C>A) c.125C>A (p.Ser42Tyr) c.542C>A (p.Ser181Tyr) c.554C>A (p.Ser185Tyr) n.608C>A c.268C>A n.554C>A n.796C>A n.525C>A c.689C>A (p.Ser230Tyr) c.404C>A (p.Ser135Tyr) n.217G>T c.800C>A (p.Ser267Tyr) | |
6 | g.10404719A>C | CA362701907 | TFAP2A,TFAP2A-AS2 | c.535T>G (p.Ser179Ala) c.559T>G (p.Ser187Ala) c.*50T>G (n.*50T>G) c.124T>G (p.Ser42Ala) c.541T>G (p.Ser181Ala) c.553T>G (p.Ser185Ala) n.607T>G c.267T>G n.553T>G n.795T>G n.524T>G c.688T>G (p.Ser230Ala) c.403T>G (p.Ser135Ala) n.218A>C c.799T>G (p.Ser267Ala) | |
6 | g.10404719A>G | CA362701904 | TFAP2A,TFAP2A-AS2 | c.535T>C (p.Ser179Pro) c.559T>C (p.Ser187Pro) c.*50T>C (n.*50T>C) c.124T>C (p.Ser42Pro) c.541T>C (p.Ser181Pro) c.553T>C (p.Ser185Pro) n.607T>C c.267T>C n.553T>C n.795T>C n.524T>C c.688T>C (p.Ser230Pro) c.403T>C (p.Ser135Pro) n.218A>G c.799T>C (p.Ser267Pro) | |
6 | g.10404719A>T | CA362701906 | TFAP2A,TFAP2A-AS2 | c.535T>A (p.Ser179Thr) c.559T>A (p.Ser187Thr) c.*50T>A (n.*50T>A) c.124T>A (p.Ser42Thr) c.541T>A (p.Ser181Thr) c.553T>A (p.Ser185Thr) n.607T>A c.267T>A n.553T>A n.795T>A n.524T>A c.688T>A (p.Ser230Thr) c.403T>A (p.Ser135Thr) n.218A>T c.799T>A (p.Ser267Thr) | |
6 | g.10404720C>A | CA362701908 | TFAP2A,TFAP2A-AS2 | c.534G>T (p.Lys178Asn) c.558G>T (p.Lys186Asn) c.*49G>T (n.*49G>T) c.123G>T (p.Lys41Asn) c.540G>T (p.Lys180Asn) c.552G>T (p.Lys184Asn) n.606G>T c.266G>T n.552G>T n.794G>T n.523G>T c.687G>T (p.Lys229Asn) c.402G>T (p.Lys134Asn) n.219C>A c.798G>T (p.Lys266Asn) | |
6 | g.10404720C= | CA1609976812 | TFAP2A,TFAP2A-AS2 | c.534G= (p.Lys178=) c.558G= (p.Lys186=) c.*49G= (n.*49G=) c.123G= (p.Lys41=) c.540G= (p.Lys180=) c.552G= (p.Lys184=) n.606G= c.266G= n.552G= n.794G= n.523G= c.687G= (p.Lys229=) c.402G= (p.Lys134=) n.219C= c.798G= (p.Lys266=) | |
6 | g.10404720C>G | CA362701909 | TFAP2A,TFAP2A-AS2 | c.534G>C (p.Lys178Asn) c.558G>C (p.Lys186Asn) c.*49G>C (n.*49G>C) c.123G>C (p.Lys41Asn) c.540G>C (p.Lys180Asn) c.552G>C (p.Lys184Asn) n.606G>C c.266G>C n.552G>C n.794G>C n.523G>C c.687G>C (p.Lys229Asn) c.402G>C (p.Lys134Asn) n.219C>G c.798G>C (p.Lys266Asn) | |
6 | g.10404720C>T | CA134049267 | TFAP2A,TFAP2A-AS2 | c.534G>A (p.Lys178=) c.558G>A (p.Lys186=) c.*49G>A (n.*49G>A) c.123G>A (p.Lys41=) c.540G>A (p.Lys180=) c.552G>A (p.Lys184=) n.606G>A c.266G>A n.552G>A n.794G>A n.523G>A c.687G>A (p.Lys229=) c.402G>A (p.Lys134=) n.219C>T c.798G>A (p.Lys266=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404721T>A | CA362701910 | TFAP2A,TFAP2A-AS2 | c.533A>T (p.Lys178Met) c.557A>T (p.Lys186Met) c.*48A>T (n.*48A>T) c.122A>T (p.Lys41Met) c.539A>T (p.Lys180Met) c.551A>T (p.Lys184Met) n.605A>T c.265A>T n.551A>T n.793A>T n.522A>T c.686A>T (p.Lys229Met) c.401A>T (p.Lys134Met) n.220T>A c.797A>T (p.Lys266Met) | |
6 | g.10404721T>C | CA362701911 | TFAP2A,TFAP2A-AS2 | c.533A>G (p.Lys178Arg) c.557A>G (p.Lys186Arg) c.*48A>G (n.*48A>G) c.122A>G (p.Lys41Arg) c.539A>G (p.Lys180Arg) c.551A>G (p.Lys184Arg) n.605A>G c.265A>G n.551A>G n.793A>G n.522A>G c.686A>G (p.Lys229Arg) c.401A>G (p.Lys134Arg) n.220T>C c.797A>G (p.Lys266Arg) | ClinVar dbSNP |
6 | g.10404721T>G | CA362701912 | TFAP2A,TFAP2A-AS2 | c.533A>C (p.Lys178Thr) c.557A>C (p.Lys186Thr) c.*48A>C (n.*48A>C) c.122A>C (p.Lys41Thr) c.539A>C (p.Lys180Thr) c.551A>C (p.Lys184Thr) n.605A>C c.265A>C n.551A>C n.793A>C n.522A>C c.686A>C (p.Lys229Thr) c.401A>C (p.Lys134Thr) n.220T>G c.797A>C (p.Lys266Thr) | |
6 | g.10404721T= | CA1609976813 | TFAP2A,TFAP2A-AS2 | c.533A= (p.Lys178=) c.557A= (p.Lys186=) c.*48A= (n.*48A=) c.122A= (p.Lys41=) c.539A= (p.Lys180=) c.551A= (p.Lys184=) n.605A= c.265A= n.551A= n.793A= n.522A= c.686A= (p.Lys229=) c.401A= (p.Lys134=) n.220T= c.797A= (p.Lys266=) | |
6 | g.10404722T>A | CA362701913 | TFAP2A,TFAP2A-AS2 | c.532A>T (p.Lys178Ter) c.556A>T (p.Lys186Ter) c.*47A>T (n.*47A>T) c.121A>T (p.Lys41Ter) c.538A>T (p.Lys180Ter) c.550A>T (p.Lys184Ter) n.604A>T c.264A>T n.550A>T n.792A>T n.521A>T c.685A>T (p.Lys229Ter) c.400A>T (p.Lys134Ter) n.221T>A c.796A>T (p.Lys266Ter) | |
6 | g.10404722T>C | CA362701915 | TFAP2A,TFAP2A-AS2 | c.532A>G (p.Lys178Glu) c.556A>G (p.Lys186Glu) c.*47A>G (n.*47A>G) c.121A>G (p.Lys41Glu) c.538A>G (p.Lys180Glu) c.550A>G (p.Lys184Glu) n.604A>G c.264A>G n.550A>G n.792A>G n.521A>G c.685A>G (p.Lys229Glu) c.400A>G (p.Lys134Glu) n.221T>C c.796A>G (p.Lys266Glu) | gnomAD v4 |
6 | g.10404722T>G | CA362701919 | TFAP2A,TFAP2A-AS2 | c.532A>C (p.Lys178Gln) c.556A>C (p.Lys186Gln) c.*47A>C (n.*47A>C) c.121A>C (p.Lys41Gln) c.538A>C (p.Lys180Gln) c.550A>C (p.Lys184Gln) n.604A>C c.264A>C n.550A>C n.792A>C n.521A>C c.685A>C (p.Lys229Gln) c.400A>C (p.Lys134Gln) n.221T>G c.796A>C (p.Lys266Gln) | gnomAD v4 |
6 | g.10404723G>A | CA448717931 | TFAP2A,TFAP2A-AS2 | c.531C>T (p.Ser177=) c.555C>T (p.Ser185=) c.*46C>T (n.*46C>T) c.120C>T (p.Ser40=) c.537C>T (p.Ser179=) c.549C>T (p.Ser183=) n.603C>T c.263C>T n.549C>T n.791C>T n.520C>T c.684C>T (p.Ser228=) c.399C>T (p.Ser133=) n.222G>A c.795C>T (p.Ser265=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404723G>C | CA448717933 | TFAP2A,TFAP2A-AS2 | c.531C>G (p.Ser177=) c.555C>G (p.Ser185=) c.*46C>G (n.*46C>G) c.120C>G (p.Ser40=) c.537C>G (p.Ser179=) c.549C>G (p.Ser183=) n.603C>G c.263C>G n.549C>G n.791C>G n.520C>G c.684C>G (p.Ser228=) c.399C>G (p.Ser133=) n.222G>C c.795C>G (p.Ser265=) | dbSNP |
6 | g.10404723G= | CA1609976814 | TFAP2A,TFAP2A-AS2 | c.531C= (p.Ser177=) c.555C= (p.Ser185=) c.*46C= (n.*46C=) c.120C= (p.Ser40=) c.537C= (p.Ser179=) c.549C= (p.Ser183=) n.603C= c.263C= n.549C= n.791C= n.520C= c.684C= (p.Ser228=) c.399C= (p.Ser133=) n.222G= c.795C= (p.Ser265=) | |
6 | g.10404723G>T | CA448717932 | TFAP2A,TFAP2A-AS2 | c.531C>A (p.Ser177=) c.555C>A (p.Ser185=) c.*46C>A (n.*46C>A) c.120C>A (p.Ser40=) c.537C>A (p.Ser179=) c.549C>A (p.Ser183=) n.603C>A c.263C>A n.549C>A n.791C>A n.520C>A c.684C>A (p.Ser228=) c.399C>A (p.Ser133=) n.222G>T c.795C>A (p.Ser265=) | |
6 | g.10404724G>A | CA362701921 | TFAP2A,TFAP2A-AS2 | c.530C>T (p.Ser177Phe) c.554C>T (p.Ser185Phe) c.*45C>T (n.*45C>T) c.119C>T (p.Ser40Phe) c.536C>T (p.Ser179Phe) c.548C>T (p.Ser183Phe) n.602C>T c.262C>T n.548C>T n.790C>T n.519C>T c.683C>T (p.Ser228Phe) c.398C>T (p.Ser133Phe) n.223G>A c.794C>T (p.Ser265Phe) | |
6 | g.10404724G>C | CA362701922 | TFAP2A,TFAP2A-AS2 | c.530C>G (p.Ser177Cys) c.554C>G (p.Ser185Cys) c.*45C>G (n.*45C>G) c.119C>G (p.Ser40Cys) c.536C>G (p.Ser179Cys) c.548C>G (p.Ser183Cys) n.602C>G c.262C>G n.548C>G n.790C>G n.519C>G c.683C>G (p.Ser228Cys) c.398C>G (p.Ser133Cys) n.223G>C c.794C>G (p.Ser265Cys) | |
6 | g.10404724G= | CA1609976815 | TFAP2A,TFAP2A-AS2 | c.530C= (p.Ser177=) c.554C= (p.Ser185=) c.*45C= (n.*45C=) c.119C= (p.Ser40=) c.536C= (p.Ser179=) c.548C= (p.Ser183=) n.602C= c.262C= n.548C= n.790C= n.519C= c.683C= (p.Ser228=) c.398C= (p.Ser133=) n.223G= c.794C= (p.Ser265=) | |
6 | g.10404724G>T | CA3631292 | TFAP2A,TFAP2A-AS2 | c.530C>A (p.Ser177Tyr) c.554C>A (p.Ser185Tyr) c.*45C>A (n.*45C>A) c.119C>A (p.Ser40Tyr) c.536C>A (p.Ser179Tyr) c.548C>A (p.Ser183Tyr) n.602C>A c.262C>A n.548C>A n.790C>A n.519C>A c.683C>A (p.Ser228Tyr) c.398C>A (p.Ser133Tyr) n.223G>T c.794C>A (p.Ser265Tyr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.10404725A>C | CA362701925 | TFAP2A,TFAP2A-AS2 | c.529T>G (p.Ser177Ala) c.553T>G (p.Ser185Ala) c.*44T>G (n.*44T>G) c.118T>G (p.Ser40Ala) c.535T>G (p.Ser179Ala) c.547T>G (p.Ser183Ala) n.601T>G c.261T>G n.547T>G n.789T>G n.518T>G c.682T>G (p.Ser228Ala) c.397T>G (p.Ser133Ala) n.224A>C c.793T>G (p.Ser265Ala) | |
6 | g.10404725A>G | CA362701924 | TFAP2A,TFAP2A-AS2 | c.529T>C (p.Ser177Pro) c.553T>C (p.Ser185Pro) c.*44T>C (n.*44T>C) c.118T>C (p.Ser40Pro) c.535T>C (p.Ser179Pro) c.547T>C (p.Ser183Pro) n.601T>C c.261T>C n.547T>C n.789T>C n.518T>C c.682T>C (p.Ser228Pro) c.397T>C (p.Ser133Pro) n.224A>G c.793T>C (p.Ser265Pro) | |
6 | g.10404725A>T | CA362701923 | TFAP2A,TFAP2A-AS2 | c.529T>A (p.Ser177Thr) c.553T>A (p.Ser185Thr) c.*44T>A (n.*44T>A) c.118T>A (p.Ser40Thr) c.535T>A (p.Ser179Thr) c.547T>A (p.Ser183Thr) n.601T>A c.261T>A n.547T>A n.789T>A n.518T>A c.682T>A (p.Ser228Thr) c.397T>A (p.Ser133Thr) n.224A>T c.793T>A (p.Ser265Thr) | |
6 | g.10404726C>A | CA448717940 | TFAP2A,TFAP2A-AS2 | c.528G>T (p.Leu176=) c.552G>T (p.Leu184=) c.*43G>T (n.*43G>T) c.117G>T (p.Leu39=) c.534G>T (p.Leu178=) c.546G>T (p.Leu182=) n.600G>T c.260G>T n.546G>T n.788G>T n.517G>T c.681G>T (p.Leu227=) c.396G>T (p.Leu132=) n.225C>A c.792G>T (p.Leu264=) | |
6 | g.10404726C= | CA1609976816 | TFAP2A,TFAP2A-AS2 | c.528G= (p.Leu176=) c.552G= (p.Leu184=) c.*43G= (n.*43G=) c.117G= (p.Leu39=) c.534G= (p.Leu178=) c.546G= (p.Leu182=) n.600G= c.260G= n.546G= n.788G= n.517G= c.681G= (p.Leu227=) c.396G= (p.Leu132=) n.225C= c.792G= (p.Leu264=) | |
6 | g.10404726C>G | CA448717941 | TFAP2A,TFAP2A-AS2 | c.528G>C (p.Leu176=) c.552G>C (p.Leu184=) c.*43G>C (n.*43G>C) c.117G>C (p.Leu39=) c.534G>C (p.Leu178=) c.546G>C (p.Leu182=) n.600G>C c.260G>C n.546G>C n.788G>C n.517G>C c.681G>C (p.Leu227=) c.396G>C (p.Leu132=) n.225C>G c.792G>C (p.Leu264=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404726C>T | CA134049276 | TFAP2A,TFAP2A-AS2 | c.528G>A (p.Leu176=) c.552G>A (p.Leu184=) c.*43G>A (n.*43G>A) c.117G>A (p.Leu39=) c.534G>A (p.Leu178=) c.546G>A (p.Leu182=) n.600G>A c.260G>A n.546G>A n.788G>A n.517G>A c.681G>A (p.Leu227=) c.396G>A (p.Leu132=) n.225C>T c.792G>A (p.Leu264=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404727A= | CA1609976817 | TFAP2A,TFAP2A-AS2 | c.527T= (p.Leu176=) c.551T= (p.Leu184=) c.*42T= (n.*42T=) c.116T= (p.Leu39=) c.533T= (p.Leu178=) c.545T= (p.Leu182=) n.599T= c.259T= n.545T= n.787T= n.516T= c.680T= (p.Leu227=) c.395T= (p.Leu132=) n.226A= c.791T= (p.Leu264=) | |
6 | g.10404727A>C | CA362701927 | TFAP2A,TFAP2A-AS2 | c.527T>G (p.Leu176Arg) c.551T>G (p.Leu184Arg) c.*42T>G (n.*42T>G) c.116T>G (p.Leu39Arg) c.533T>G (p.Leu178Arg) c.545T>G (p.Leu182Arg) n.599T>G c.259T>G n.545T>G n.787T>G n.516T>G c.680T>G (p.Leu227Arg) c.395T>G (p.Leu132Arg) n.226A>C c.791T>G (p.Leu264Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404727A>G | CA3631293 | TFAP2A,TFAP2A-AS2 | c.527T>C (p.Leu176Pro) c.551T>C (p.Leu184Pro) c.*42T>C (n.*42T>C) c.116T>C (p.Leu39Pro) c.533T>C (p.Leu178Pro) c.545T>C (p.Leu182Pro) n.599T>C c.259T>C n.545T>C n.787T>C n.516T>C c.680T>C (p.Leu227Pro) c.395T>C (p.Leu132Pro) n.226A>G c.791T>C (p.Leu264Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404727A>T | CA362701929 | TFAP2A,TFAP2A-AS2 | c.527T>A (p.Leu176Gln) c.551T>A (p.Leu184Gln) c.*42T>A (n.*42T>A) c.116T>A (p.Leu39Gln) c.533T>A (p.Leu178Gln) c.545T>A (p.Leu182Gln) n.599T>A c.259T>A n.545T>A n.787T>A n.516T>A c.680T>A (p.Leu227Gln) c.395T>A (p.Leu132Gln) n.226A>T c.791T>A (p.Leu264Gln) | |
6 | g.10404728G>A | CA448717945 | TFAP2A,TFAP2A-AS2 | c.526C>T (p.Leu176=) c.550C>T (p.Leu184=) c.*41C>T (n.*41C>T) c.115C>T (p.Leu39=) c.532C>T (p.Leu178=) c.544C>T (p.Leu182=) n.598C>T c.258C>T n.544C>T n.786C>T n.515C>T c.679C>T (p.Leu227=) c.394C>T (p.Leu132=) n.227G>A c.790C>T (p.Leu264=) | |
6 | g.10404728G>C | CA362701930 | TFAP2A,TFAP2A-AS2 | c.526C>G (p.Leu176Val) c.550C>G (p.Leu184Val) c.*41C>G (n.*41C>G) c.115C>G (p.Leu39Val) c.532C>G (p.Leu178Val) c.544C>G (p.Leu182Val) n.598C>G c.258C>G n.544C>G n.786C>G n.515C>G c.679C>G (p.Leu227Val) c.394C>G (p.Leu132Val) n.227G>C c.790C>G (p.Leu264Val) | |
6 | g.10404728G>T | CA362701931 | TFAP2A,TFAP2A-AS2 | c.526C>A (p.Leu176Met) c.550C>A (p.Leu184Met) c.*41C>A (n.*41C>A) c.115C>A (p.Leu39Met) c.532C>A (p.Leu178Met) c.544C>A (p.Leu182Met) n.598C>A c.258C>A n.544C>A n.786C>A n.515C>A c.679C>A (p.Leu227Met) c.394C>A (p.Leu132Met) n.227G>T c.790C>A (p.Leu264Met) | |
6 | g.10404729G>A | CA448717946 | TFAP2A,TFAP2A-AS2 | c.525C>T (p.Ser175=) c.549C>T (p.Ser183=) c.*40C>T (n.*40C>T) c.114C>T (p.Ser38=) c.531C>T (p.Ser177=) c.543C>T (p.Ser181=) n.597C>T c.257C>T n.543C>T n.785C>T n.514C>T c.678C>T (p.Ser226=) c.393C>T (p.Ser131=) n.228G>A c.789C>T (p.Ser263=) | |
6 | g.10404729G>C | CA448717947 | TFAP2A,TFAP2A-AS2 | c.525C>G (p.Ser175=) c.549C>G (p.Ser183=) c.*40C>G (n.*40C>G) c.114C>G (p.Ser38=) c.531C>G (p.Ser177=) c.543C>G (p.Ser181=) n.597C>G c.257C>G n.543C>G n.785C>G n.514C>G c.678C>G (p.Ser226=) c.393C>G (p.Ser131=) n.228G>C c.789C>G (p.Ser263=) | |
6 | g.10404729G>T | CA448717948 | TFAP2A,TFAP2A-AS2 | c.525C>A (p.Ser175=) c.549C>A (p.Ser183=) c.*40C>A (n.*40C>A) c.114C>A (p.Ser38=) c.531C>A (p.Ser177=) c.543C>A (p.Ser181=) n.597C>A c.257C>A n.543C>A n.785C>A n.514C>A c.678C>A (p.Ser226=) c.393C>A (p.Ser131=) n.228G>T c.789C>A (p.Ser263=) | |
6 | g.10404730G>A | CA362701937 | TFAP2A,TFAP2A-AS2 | c.524C>T (p.Ser175Phe) c.548C>T (p.Ser183Phe) c.*39C>T (n.*39C>T) c.113C>T (p.Ser38Phe) c.530C>T (p.Ser177Phe) c.542C>T (p.Ser181Phe) n.596C>T c.256C>T n.542C>T n.784C>T n.513C>T c.677C>T (p.Ser226Phe) c.392C>T (p.Ser131Phe) n.229G>A c.788C>T (p.Ser263Phe) | dbSNP gnomAD v4 |
6 | g.10404730G>C | CA362701935 | TFAP2A,TFAP2A-AS2 | c.524C>G (p.Ser175Cys) c.548C>G (p.Ser183Cys) c.*39C>G (n.*39C>G) c.113C>G (p.Ser38Cys) c.530C>G (p.Ser177Cys) c.542C>G (p.Ser181Cys) n.596C>G c.256C>G n.542C>G n.784C>G n.513C>G c.677C>G (p.Ser226Cys) c.392C>G (p.Ser131Cys) n.229G>C c.788C>G (p.Ser263Cys) | |
6 | g.10404730G= | CA1609976818 | TFAP2A,TFAP2A-AS2 | c.524C= (p.Ser175=) c.548C= (p.Ser183=) c.*39C= (n.*39C=) c.113C= (p.Ser38=) c.530C= (p.Ser177=) c.542C= (p.Ser181=) n.596C= c.256C= n.542C= n.784C= n.513C= c.677C= (p.Ser226=) c.392C= (p.Ser131=) n.229G= c.788C= (p.Ser263=) | |
6 | g.10404730G>T | CA362701933 | TFAP2A,TFAP2A-AS2 | c.524C>A (p.Ser175Tyr) c.548C>A (p.Ser183Tyr) c.*39C>A (n.*39C>A) c.113C>A (p.Ser38Tyr) c.530C>A (p.Ser177Tyr) c.542C>A (p.Ser181Tyr) n.596C>A c.256C>A n.542C>A n.784C>A n.513C>A c.677C>A (p.Ser226Tyr) c.392C>A (p.Ser131Tyr) n.229G>T c.788C>A (p.Ser263Tyr) | |
6 | g.10404731A>C | CA362701939 | TFAP2A,TFAP2A-AS2 | c.523T>G (p.Ser175Ala) c.547T>G (p.Ser183Ala) c.*38T>G (n.*38T>G) c.112T>G (p.Ser38Ala) c.529T>G (p.Ser177Ala) c.541T>G (p.Ser181Ala) n.595T>G c.255T>G n.541T>G n.783T>G n.512T>G c.676T>G (p.Ser226Ala) c.391T>G (p.Ser131Ala) n.230A>C c.787T>G (p.Ser263Ala) | |
6 | g.10404731A>G | CA362701940 | TFAP2A,TFAP2A-AS2 | c.523T>C (p.Ser175Pro) c.547T>C (p.Ser183Pro) c.*38T>C (n.*38T>C) c.112T>C (p.Ser38Pro) c.529T>C (p.Ser177Pro) c.541T>C (p.Ser181Pro) n.595T>C c.255T>C n.541T>C n.783T>C n.512T>C c.676T>C (p.Ser226Pro) c.391T>C (p.Ser131Pro) n.230A>G c.787T>C (p.Ser263Pro) | |
6 | g.10404731A>T | CA362701941 | TFAP2A,TFAP2A-AS2 | c.523T>A (p.Ser175Thr) c.547T>A (p.Ser183Thr) c.*38T>A (n.*38T>A) c.112T>A (p.Ser38Thr) c.529T>A (p.Ser177Thr) c.541T>A (p.Ser181Thr) n.595T>A c.255T>A n.541T>A n.783T>A n.512T>A c.676T>A (p.Ser226Thr) c.391T>A (p.Ser131Thr) n.230A>T c.787T>A (p.Ser263Thr) | |
6 | g.10404732C>A | CA448717953 | TFAP2A,TFAP2A-AS2 | c.522G>T (p.Val174=) c.546G>T (p.Val182=) c.*37G>T (n.*37G>T) c.111G>T (p.Val37=) c.528G>T (p.Val176=) c.540G>T (p.Val180=) n.594G>T c.254G>T n.540G>T n.782G>T n.511G>T c.675G>T (p.Val225=) c.390G>T (p.Val130=) n.231C>A c.786G>T (p.Val262=) | |
6 | g.10404732C>G | CA448717954 | TFAP2A,TFAP2A-AS2 | c.522G>C (p.Val174=) c.546G>C (p.Val182=) c.*37G>C (n.*37G>C) c.111G>C (p.Val37=) c.528G>C (p.Val176=) c.540G>C (p.Val180=) n.594G>C c.254G>C n.540G>C n.782G>C n.511G>C c.675G>C (p.Val225=) c.390G>C (p.Val130=) n.231C>G c.786G>C (p.Val262=) | |
6 | g.10404732C>T | CA448717956 | TFAP2A,TFAP2A-AS2 | c.522G>A (p.Val174=) c.546G>A (p.Val182=) c.*37G>A (n.*37G>A) c.111G>A (p.Val37=) c.528G>A (p.Val176=) c.540G>A (p.Val180=) n.594G>A c.254G>A n.540G>A n.782G>A n.511G>A c.675G>A (p.Val225=) c.390G>A (p.Val130=) n.231C>T c.786G>A (p.Val262=) | |
6 | g.10404733A>C | CA362701943 | TFAP2A,TFAP2A-AS2 | c.521T>G (p.Val174Gly) c.545T>G (p.Val182Gly) c.*36T>G (n.*36T>G) c.110T>G (p.Val37Gly) c.527T>G (p.Val176Gly) c.539T>G (p.Val180Gly) n.593T>G c.253T>G n.539T>G n.781T>G n.510T>G c.674T>G (p.Val225Gly) c.389T>G (p.Val130Gly) n.232A>C c.785T>G (p.Val262Gly) | gnomAD v4 |
6 | g.10404733A>G | CA362701945 | TFAP2A,TFAP2A-AS2 | c.521T>C (p.Val174Ala) c.545T>C (p.Val182Ala) c.*36T>C (n.*36T>C) c.110T>C (p.Val37Ala) c.527T>C (p.Val176Ala) c.539T>C (p.Val180Ala) n.593T>C c.253T>C n.539T>C n.781T>C n.510T>C c.674T>C (p.Val225Ala) c.389T>C (p.Val130Ala) n.232A>G c.785T>C (p.Val262Ala) | gnomAD v4 |
6 | g.10404733A>T | CA362701949 | TFAP2A,TFAP2A-AS2 | c.521T>A (p.Val174Glu) c.545T>A (p.Val182Glu) c.*36T>A (n.*36T>A) c.110T>A (p.Val37Glu) c.527T>A (p.Val176Glu) c.539T>A (p.Val180Glu) n.593T>A c.253T>A n.539T>A n.781T>A n.510T>A c.674T>A (p.Val225Glu) c.389T>A (p.Val130Glu) n.232A>T c.785T>A (p.Val262Glu) | |
6 | g.10404734C>A | CA362701959 | TFAP2A,TFAP2A-AS2 | c.520G>T (p.Val174Leu) c.544G>T (p.Val182Leu) c.*35G>T (n.*35G>T) c.109G>T (p.Val37Leu) c.526G>T (p.Val176Leu) c.538G>T (p.Val180Leu) n.592G>T c.252G>T n.538G>T n.780G>T n.509G>T c.673G>T (p.Val225Leu) c.388G>T (p.Val130Leu) n.233C>A c.784G>T (p.Val262Leu) | |
6 | g.10404734C= | CA1609976819 | TFAP2A,TFAP2A-AS2 | c.520G= (p.Val174=) c.544G= (p.Val182=) c.*35G= (n.*35G=) c.109G= (p.Val37=) c.526G= (p.Val176=) c.538G= (p.Val180=) n.592G= c.252G= n.538G= n.780G= n.509G= c.673G= (p.Val225=) c.388G= (p.Val130=) n.233C= c.784G= (p.Val262=) | |
6 | g.10404734C>G | CA362701955 | TFAP2A,TFAP2A-AS2 | c.520G>C (p.Val174Leu) c.544G>C (p.Val182Leu) c.*35G>C (n.*35G>C) c.109G>C (p.Val37Leu) c.526G>C (p.Val176Leu) c.538G>C (p.Val180Leu) n.592G>C c.252G>C n.538G>C n.780G>C n.509G>C c.673G>C (p.Val225Leu) c.388G>C (p.Val130Leu) n.233C>G c.784G>C (p.Val262Leu) | |
6 | g.10404734C>T | CA362701957 | TFAP2A,TFAP2A-AS2 | c.520G>A (p.Val174Met) c.544G>A (p.Val182Met) c.*35G>A (n.*35G>A) c.109G>A (p.Val37Met) c.526G>A (p.Val176Met) c.538G>A (p.Val180Met) n.592G>A c.252G>A n.538G>A n.780G>A n.509G>A c.673G>A (p.Val225Met) c.388G>A (p.Val130Met) n.233C>T c.784G>A (p.Val262Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404735G>A | CA448717963 | TFAP2A,TFAP2A-AS2 | c.519C>T (p.Pro173=) c.543C>T (p.Pro181=) c.*34C>T (n.*34C>T) c.108C>T (p.Pro36=) c.525C>T (p.Pro175=) c.537C>T (p.Pro179=) n.591C>T c.251C>T n.537C>T n.779C>T n.508C>T c.672C>T (p.Pro224=) c.387C>T (p.Pro129=) n.234G>A c.783C>T (p.Pro261=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404735G>C | CA3631294 | TFAP2A,TFAP2A-AS2 | c.519C>G (p.Pro173=) c.543C>G (p.Pro181=) c.*34C>G (n.*34C>G) c.108C>G (p.Pro36=) c.525C>G (p.Pro175=) c.537C>G (p.Pro179=) n.591C>G c.251C>G n.537C>G n.779C>G n.508C>G c.672C>G (p.Pro224=) c.387C>G (p.Pro129=) n.234G>C c.783C>G (p.Pro261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404735G= | CA1609976820 | TFAP2A,TFAP2A-AS2 | c.519C= (p.Pro173=) c.543C= (p.Pro181=) c.*34C= (n.*34C=) c.108C= (p.Pro36=) c.525C= (p.Pro175=) c.537C= (p.Pro179=) n.591C= c.251C= n.537C= n.779C= n.508C= c.672C= (p.Pro224=) c.387C= (p.Pro129=) n.234G= c.783C= (p.Pro261=) | |
6 | g.10404735G>T | CA448717964 | TFAP2A,TFAP2A-AS2 | c.519C>A (p.Pro173=) c.543C>A (p.Pro181=) c.*34C>A (n.*34C>A) c.108C>A (p.Pro36=) c.525C>A (p.Pro175=) c.537C>A (p.Pro179=) n.591C>A c.251C>A n.537C>A n.779C>A n.508C>A c.672C>A (p.Pro224=) c.387C>A (p.Pro129=) n.234G>T c.783C>A (p.Pro261=) | |
6 | g.10404737_10404738del | CA645560347 | TFAP2A,TFAP2A-AS2 | c.518_519del (p.Pro173ArgfsTer17) c.542_543del (p.Pro181ArgfsTer17) c.*33_*34del (n.*33_*34del) c.107_108del (p.Pro36ArgfsTer17) c.524_525del (p.Pro175ArgfsTer17) c.536_537del (p.Pro179ArgfsTer17) n.590_591del c.250_251del n.536_537del n.778_779del n.507_508del c.671_672del (p.Pro224ArgfsTer17) c.386_387del (p.Pro129ArgfsTer17) n.236_237del c.782_783del (p.Pro261ArgfsTer17) | COSMIC COSMIC COSMIC |
6 | g.10404736G>A | CA362701961 | TFAP2A,TFAP2A-AS2 | c.518C>T (p.Pro173Leu) c.542C>T (p.Pro181Leu) c.*33C>T (n.*33C>T) c.107C>T (p.Pro36Leu) c.524C>T (p.Pro175Leu) c.536C>T (p.Pro179Leu) n.590C>T c.250C>T n.536C>T n.778C>T n.507C>T c.671C>T (p.Pro224Leu) c.386C>T (p.Pro129Leu) n.235G>A c.782C>T (p.Pro261Leu) | |
6 | g.10404736G>C | CA362701964 | TFAP2A,TFAP2A-AS2 | c.518C>G (p.Pro173Arg) c.542C>G (p.Pro181Arg) c.*33C>G (n.*33C>G) c.107C>G (p.Pro36Arg) c.524C>G (p.Pro175Arg) c.536C>G (p.Pro179Arg) n.590C>G c.250C>G n.536C>G n.778C>G n.507C>G c.671C>G (p.Pro224Arg) c.386C>G (p.Pro129Arg) n.235G>C c.782C>G (p.Pro261Arg) | |
6 | g.10404736G>T | CA362701965 | TFAP2A,TFAP2A-AS2 | c.518C>A (p.Pro173His) c.542C>A (p.Pro181His) c.*33C>A (n.*33C>A) c.107C>A (p.Pro36His) c.524C>A (p.Pro175His) c.536C>A (p.Pro179His) n.590C>A c.250C>A n.536C>A n.778C>A n.507C>A c.671C>A (p.Pro224His) c.386C>A (p.Pro129His) n.235G>T c.782C>A (p.Pro261His) | |
6 | g.10404737G>A | CA362701967 | TFAP2A,TFAP2A-AS2 | c.517C>T (p.Pro173Ser) c.541C>T (p.Pro181Ser) c.*32C>T (n.*32C>T) c.106C>T (p.Pro36Ser) c.523C>T (p.Pro175Ser) c.535C>T (p.Pro179Ser) n.589C>T c.249C>T n.535C>T n.777C>T n.506C>T c.670C>T (p.Pro224Ser) c.385C>T (p.Pro129Ser) n.236G>A c.781C>T (p.Pro261Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404737G>C | CA362701968 | TFAP2A,TFAP2A-AS2 | c.517C>G (p.Pro173Ala) c.541C>G (p.Pro181Ala) c.*32C>G (n.*32C>G) c.106C>G (p.Pro36Ala) c.523C>G (p.Pro175Ala) c.535C>G (p.Pro179Ala) n.589C>G c.249C>G n.535C>G n.777C>G n.506C>G c.670C>G (p.Pro224Ala) c.385C>G (p.Pro129Ala) n.236G>C c.781C>G (p.Pro261Ala) | |
6 | g.10404737G= | CA1609976821 | TFAP2A,TFAP2A-AS2 | c.517C= (p.Pro173=) c.541C= (p.Pro181=) c.*32C= (n.*32C=) c.106C= (p.Pro36=) c.523C= (p.Pro175=) c.535C= (p.Pro179=) n.589C= c.249C= n.535C= n.777C= n.506C= c.670C= (p.Pro224=) c.385C= (p.Pro129=) n.236G= c.781C= (p.Pro261=) | |
6 | g.10404737G>T | CA362701969 | TFAP2A,TFAP2A-AS2 | c.517C>A (p.Pro173Thr) c.541C>A (p.Pro181Thr) c.*32C>A (n.*32C>A) c.106C>A (p.Pro36Thr) c.523C>A (p.Pro175Thr) c.535C>A (p.Pro179Thr) n.589C>A c.249C>A n.535C>A n.777C>A n.506C>A c.670C>A (p.Pro224Thr) c.385C>A (p.Pro129Thr) n.236G>T c.781C>A (p.Pro261Thr) | |
6 | g.10404738G>A | CA448717971 | TFAP2A,TFAP2A-AS2 | c.516C>T (p.Gly172=) c.540C>T (p.Gly180=) c.*31C>T (n.*31C>T) c.105C>T (p.Gly35=) c.522C>T (p.Gly174=) c.534C>T (p.Gly178=) n.588C>T c.248C>T n.534C>T n.776C>T n.505C>T c.669C>T (p.Gly223=) c.384C>T (p.Gly128=) n.237G>A c.780C>T (p.Gly260=) | gnomAD v4 |
6 | g.10404738G>C | CA448717969 | TFAP2A,TFAP2A-AS2 | c.516C>G (p.Gly172=) c.540C>G (p.Gly180=) c.*31C>G (n.*31C>G) c.105C>G (p.Gly35=) c.522C>G (p.Gly174=) c.534C>G (p.Gly178=) n.588C>G c.248C>G n.534C>G n.776C>G n.505C>G c.669C>G (p.Gly223=) c.384C>G (p.Gly128=) n.237G>C c.780C>G (p.Gly260=) | |
6 | g.10404738G= | CA1609976822 | TFAP2A,TFAP2A-AS2 | c.516C= (p.Gly172=) c.540C= (p.Gly180=) c.*31C= (n.*31C=) c.105C= (p.Gly35=) c.522C= (p.Gly174=) c.534C= (p.Gly178=) n.588C= c.248C= n.534C= n.776C= n.505C= c.669C= (p.Gly223=) c.384C= (p.Gly128=) n.237G= c.780C= (p.Gly260=) | |
6 | g.10404738G>T | CA448717968 | TFAP2A,TFAP2A-AS2 | c.516C>A (p.Gly172=) c.540C>A (p.Gly180=) c.*31C>A (n.*31C>A) c.105C>A (p.Gly35=) c.522C>A (p.Gly174=) c.534C>A (p.Gly178=) n.588C>A c.248C>A n.534C>A n.776C>A n.505C>A c.669C>A (p.Gly223=) c.384C>A (p.Gly128=) n.237G>T c.780C>A (p.Gly260=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404739C>A | CA362701970 | TFAP2A,TFAP2A-AS2 | c.515G>T (p.Gly172Val) c.539G>T (p.Gly180Val) c.*30G>T (n.*30G>T) c.104G>T (p.Gly35Val) c.521G>T (p.Gly174Val) c.533G>T (p.Gly178Val) n.587G>T c.247G>T n.533G>T n.775G>T n.504G>T c.668G>T (p.Gly223Val) c.383G>T (p.Gly128Val) n.238C>A c.779G>T (p.Gly260Val) | |
6 | g.10404739C>G | CA362701971 | TFAP2A,TFAP2A-AS2 | c.515G>C (p.Gly172Ala) c.539G>C (p.Gly180Ala) c.*30G>C (n.*30G>C) c.104G>C (p.Gly35Ala) c.521G>C (p.Gly174Ala) c.533G>C (p.Gly178Ala) n.587G>C c.247G>C n.533G>C n.775G>C n.504G>C c.668G>C (p.Gly223Ala) c.383G>C (p.Gly128Ala) n.238C>G c.779G>C (p.Gly260Ala) | |
6 | g.10404739C>T | CA362701973 | TFAP2A,TFAP2A-AS2 | c.515G>A (p.Gly172Asp) c.539G>A (p.Gly180Asp) c.*30G>A (n.*30G>A) c.104G>A (p.Gly35Asp) c.521G>A (p.Gly174Asp) c.533G>A (p.Gly178Asp) n.587G>A c.247G>A n.533G>A n.775G>A n.504G>A c.668G>A (p.Gly223Asp) c.383G>A (p.Gly128Asp) n.238C>T c.779G>A (p.Gly260Asp) | |
6 | g.10404740C>A | CA362701975 | TFAP2A,TFAP2A-AS2 | c.515-1G>T (n.515-1G>T) c.539-1G>T (n.539-1G>T) c.*30-1G>T (n.*30-1G>T) c.104-1G>T (n.104-1G>T) c.521-1G>T (n.521-1G>T) c.533-1G>T (n.533-1G>T) n.587-1G>T c.247-1G>T n.533-1G>T n.775-1G>T n.504-1G>T c.668-1G>T (n.668-1G>T) c.383-1G>T (n.383-1G>T) n.239C>A c.779-1G>T (n.779-1G>T) | |
6 | g.10404740C>G | CA362701978 | TFAP2A,TFAP2A-AS2 | c.515-1G>C (n.515-1G>C) c.539-1G>C (n.539-1G>C) c.*30-1G>C (n.*30-1G>C) c.104-1G>C (n.104-1G>C) c.521-1G>C (n.521-1G>C) c.533-1G>C (n.533-1G>C) n.587-1G>C c.247-1G>C n.533-1G>C n.775-1G>C n.504-1G>C c.668-1G>C (n.668-1G>C) c.383-1G>C (n.383-1G>C) n.239C>G c.779-1G>C (n.779-1G>C) | |
6 | g.10404740C>T | CA362701979 | TFAP2A,TFAP2A-AS2 | c.515-1G>A (n.515-1G>A) c.539-1G>A (n.539-1G>A) c.*30-1G>A (n.*30-1G>A) c.104-1G>A (n.104-1G>A) c.521-1G>A (n.521-1G>A) c.533-1G>A (n.533-1G>A) n.587-1G>A c.247-1G>A n.533-1G>A n.775-1G>A n.504-1G>A c.668-1G>A (n.668-1G>A) c.383-1G>A (n.383-1G>A) n.239C>T c.779-1G>A (n.779-1G>A) | |
6 | g.10404741T>A | CA362701981 | TFAP2A,TFAP2A-AS2 | c.515-2A>T (n.515-2A>T) c.539-2A>T (n.539-2A>T) c.*30-2A>T (n.*30-2A>T) c.104-2A>T (n.104-2A>T) c.521-2A>T (n.521-2A>T) c.533-2A>T (n.533-2A>T) n.587-2A>T c.247-2A>T n.533-2A>T n.775-2A>T n.504-2A>T c.668-2A>T (n.668-2A>T) c.383-2A>T (n.383-2A>T) n.240T>A c.779-2A>T (n.779-2A>T) | |
6 | g.10404741T>C | CA362701985 | TFAP2A,TFAP2A-AS2 | c.515-2A>G (n.515-2A>G) c.539-2A>G (n.539-2A>G) c.*30-2A>G (n.*30-2A>G) c.104-2A>G (n.104-2A>G) c.521-2A>G (n.521-2A>G) c.533-2A>G (n.533-2A>G) n.587-2A>G c.247-2A>G n.533-2A>G n.775-2A>G n.504-2A>G c.668-2A>G (n.668-2A>G) c.383-2A>G (n.383-2A>G) n.240T>C c.779-2A>G (n.779-2A>G) | |
6 | g.10404741T>G | CA362701983 | TFAP2A,TFAP2A-AS2 | c.515-2A>C (n.515-2A>C) c.539-2A>C (n.539-2A>C) c.*30-2A>C (n.*30-2A>C) c.104-2A>C (n.104-2A>C) c.521-2A>C (n.521-2A>C) c.533-2A>C (n.533-2A>C) n.587-2A>C c.247-2A>C n.533-2A>C n.775-2A>C n.504-2A>C c.668-2A>C (n.668-2A>C) c.383-2A>C (n.383-2A>C) n.240T>G c.779-2A>C (n.779-2A>C) | |
6 | g.10404742G>A | CA3631295 | TFAP2A,TFAP2A-AS2 | c.515-3C>T (n.515-3C>T) c.539-3C>T (n.539-3C>T) c.*30-3C>T (n.*30-3C>T) c.104-3C>T (n.104-3C>T) c.521-3C>T (n.521-3C>T) c.533-3C>T (n.533-3C>T) n.587-3C>T c.247-3C>T n.533-3C>T n.775-3C>T n.504-3C>T c.668-3C>T (n.668-3C>T) c.383-3C>T (n.383-3C>T) n.241G>A c.779-3C>T (n.779-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404742G= | CA1609976823 | TFAP2A,TFAP2A-AS2 | c.515-3C= (n.515-3C=) c.539-3C= (n.539-3C=) c.*30-3C= (n.*30-3C=) c.104-3C= (n.104-3C=) c.521-3C= (n.521-3C=) c.533-3C= (n.533-3C=) n.587-3C= c.247-3C= n.533-3C= n.775-3C= n.504-3C= c.668-3C= (n.668-3C=) c.383-3C= (n.383-3C=) n.241G= c.779-3C= (n.779-3C=) | |
6 | g.10404743C>A | CA2677252916 | TFAP2A,TFAP2A-AS2 | c.515-4G>T (n.515-4G>T) c.539-4G>T (n.539-4G>T) c.*30-4G>T (n.*30-4G>T) c.104-4G>T (n.104-4G>T) c.521-4G>T (n.521-4G>T) c.533-4G>T (n.533-4G>T) n.587-4G>T c.247-4G>T n.533-4G>T n.775-4G>T n.504-4G>T c.668-4G>T (n.668-4G>T) c.383-4G>T (n.383-4G>T) n.242C>A c.779-4G>T (n.779-4G>T) | gnomAD v4 |
6 | g.10404743C= | CA1609976824 | TFAP2A,TFAP2A-AS2 | c.515-4G= (n.515-4G=) c.539-4G= (n.539-4G=) c.*30-4G= (n.*30-4G=) c.104-4G= (n.104-4G=) c.521-4G= (n.521-4G=) c.533-4G= (n.533-4G=) n.587-4G= c.247-4G= n.533-4G= n.775-4G= n.504-4G= c.668-4G= (n.668-4G=) c.383-4G= (n.383-4G=) n.242C= c.779-4G= (n.779-4G=) | |
6 | g.10404743C>G | CA134049316 | TFAP2A,TFAP2A-AS2 | c.515-4G>C (n.515-4G>C) c.539-4G>C (n.539-4G>C) c.*30-4G>C (n.*30-4G>C) c.104-4G>C (n.104-4G>C) c.521-4G>C (n.521-4G>C) c.533-4G>C (n.533-4G>C) n.587-4G>C c.247-4G>C n.533-4G>C n.775-4G>C n.504-4G>C c.668-4G>C (n.668-4G>C) c.383-4G>C (n.383-4G>C) n.242C>G c.779-4G>C (n.779-4G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404743C>T | CA2697546630 | TFAP2A,TFAP2A-AS2 | c.515-4G>A (n.515-4G>A) c.539-4G>A (n.539-4G>A) c.*30-4G>A (n.*30-4G>A) c.104-4G>A (n.104-4G>A) c.521-4G>A (n.521-4G>A) c.533-4G>A (n.533-4G>A) n.587-4G>A c.247-4G>A n.533-4G>A n.775-4G>A n.504-4G>A c.668-4G>A (n.668-4G>A) c.383-4G>A (n.383-4G>A) n.242C>T c.779-4G>A (n.779-4G>A) | ClinVar |