Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.10404600G>A | CA448717630 | TFAP2A,TFAP2A-AS2 | c.654C>T (p.Thr218=) c.678C>T (p.Thr226=) c.*169C>T (n.*169C>T) c.243C>T (p.Thr81=) c.660C>T (p.Thr220=) c.672C>T (p.Thr224=) c.386C>T n.672C>T n.643C>T c.807C>T (p.Thr269=) c.522C>T (p.Thr174=) n.99G>A c.918C>T (p.Thr306=) | |
6 | g.10404600G>C | CA448717631 | TFAP2A,TFAP2A-AS2 | c.654C>G (p.Thr218=) c.678C>G (p.Thr226=) c.*169C>G (n.*169C>G) c.243C>G (p.Thr81=) c.660C>G (p.Thr220=) c.672C>G (p.Thr224=) c.386C>G n.672C>G n.643C>G c.807C>G (p.Thr269=) c.522C>G (p.Thr174=) n.99G>C c.918C>G (p.Thr306=) | ClinVar gnomAD v4 |
6 | g.10404600G>T | CA448717632 | TFAP2A,TFAP2A-AS2 | c.654C>A (p.Thr218=) c.678C>A (p.Thr226=) c.*169C>A (n.*169C>A) c.243C>A (p.Thr81=) c.660C>A (p.Thr220=) c.672C>A (p.Thr224=) c.386C>A n.672C>A n.643C>A c.807C>A (p.Thr269=) c.522C>A (p.Thr174=) n.99G>T c.918C>A (p.Thr306=) | |
6 | g.10404601G>A | CA362701411 | TFAP2A,TFAP2A-AS2 | c.653C>T (p.Thr218Ile) c.677C>T (p.Thr226Ile) c.*168C>T (n.*168C>T) c.242C>T (p.Thr81Ile) c.659C>T (p.Thr220Ile) c.671C>T (p.Thr224Ile) c.385C>T n.671C>T n.642C>T c.806C>T (p.Thr269Ile) c.521C>T (p.Thr174Ile) n.100G>A c.917C>T (p.Thr306Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404601G>C | CA362701413 | TFAP2A,TFAP2A-AS2 | c.653C>G (p.Thr218Ser) c.677C>G (p.Thr226Ser) c.*168C>G (n.*168C>G) c.242C>G (p.Thr81Ser) c.659C>G (p.Thr220Ser) c.671C>G (p.Thr224Ser) c.385C>G n.671C>G n.642C>G c.806C>G (p.Thr269Ser) c.521C>G (p.Thr174Ser) n.100G>C c.917C>G (p.Thr306Ser) | |
6 | g.10404601G= | CA1609976764 | TFAP2A,TFAP2A-AS2 | c.653C= (p.Thr218=) c.677C= (p.Thr226=) c.*168C= (n.*168C=) c.242C= (p.Thr81=) c.659C= (p.Thr220=) c.671C= (p.Thr224=) c.385C= n.671C= n.642C= c.806C= (p.Thr269=) c.521C= (p.Thr174=) n.100G= c.917C= (p.Thr306=) | |
6 | g.10404601G>T | CA362701415 | TFAP2A,TFAP2A-AS2 | c.653C>A (p.Thr218Asn) c.677C>A (p.Thr226Asn) c.*168C>A (n.*168C>A) c.242C>A (p.Thr81Asn) c.659C>A (p.Thr220Asn) c.671C>A (p.Thr224Asn) c.385C>A n.671C>A n.642C>A c.806C>A (p.Thr269Asn) c.521C>A (p.Thr174Asn) n.100G>T c.917C>A (p.Thr306Asn) | |
6 | g.10404602T>A | CA362701420 | TFAP2A,TFAP2A-AS2 | c.652A>T (p.Thr218Ser) c.676A>T (p.Thr226Ser) c.*167A>T (n.*167A>T) c.241A>T (p.Thr81Ser) c.658A>T (p.Thr220Ser) c.670A>T (p.Thr224Ser) c.384A>T n.670A>T n.641A>T c.805A>T (p.Thr269Ser) c.520A>T (p.Thr174Ser) n.101T>A c.916A>T (p.Thr306Ser) | |
6 | g.10404602T>C | CA362701418 | TFAP2A,TFAP2A-AS2 | c.652A>G (p.Thr218Ala) c.676A>G (p.Thr226Ala) c.*167A>G (n.*167A>G) c.241A>G (p.Thr81Ala) c.658A>G (p.Thr220Ala) c.670A>G (p.Thr224Ala) c.384A>G n.670A>G n.641A>G c.805A>G (p.Thr269Ala) c.520A>G (p.Thr174Ala) n.101T>C c.916A>G (p.Thr306Ala) | gnomAD v4 |
6 | g.10404602T>G | CA362701417 | TFAP2A,TFAP2A-AS2 | c.652A>C (p.Thr218Pro) c.676A>C (p.Thr226Pro) c.*167A>C (n.*167A>C) c.241A>C (p.Thr81Pro) c.658A>C (p.Thr220Pro) c.670A>C (p.Thr224Pro) c.384A>C n.670A>C n.641A>C c.805A>C (p.Thr269Pro) c.520A>C (p.Thr174Pro) n.101T>G c.916A>C (p.Thr306Pro) | |
6 | g.10404603G>A | CA448717637 | TFAP2A,TFAP2A-AS2 | c.651C>T (p.Ser217=) c.675C>T (p.Ser225=) c.*166C>T (n.*166C>T) c.240C>T (p.Ser80=) c.657C>T (p.Ser219=) c.669C>T (p.Ser223=) c.383C>T n.669C>T n.640C>T c.804C>T (p.Ser268=) c.519C>T (p.Ser173=) n.102G>A c.915C>T (p.Ser305=) | dbSNP gnomAD v4 |
6 | g.10404603G>C | CA448717638 | TFAP2A,TFAP2A-AS2 | c.651C>G (p.Ser217=) c.675C>G (p.Ser225=) c.*166C>G (n.*166C>G) c.240C>G (p.Ser80=) c.657C>G (p.Ser219=) c.669C>G (p.Ser223=) c.383C>G n.669C>G n.640C>G c.804C>G (p.Ser268=) c.519C>G (p.Ser173=) n.102G>C c.915C>G (p.Ser305=) | |
6 | g.10404603G= | CA1609976765 | TFAP2A,TFAP2A-AS2 | c.651C= (p.Ser217=) c.675C= (p.Ser225=) c.*166C= (n.*166C=) c.240C= (p.Ser80=) c.657C= (p.Ser219=) c.669C= (p.Ser223=) c.383C= n.669C= n.640C= c.804C= (p.Ser268=) c.519C= (p.Ser173=) n.102G= c.915C= (p.Ser305=) | |
6 | g.10404603G>T | CA448717639 | TFAP2A,TFAP2A-AS2 | c.651C>A (p.Ser217=) c.675C>A (p.Ser225=) c.*166C>A (n.*166C>A) c.240C>A (p.Ser80=) c.657C>A (p.Ser219=) c.669C>A (p.Ser223=) c.383C>A n.669C>A n.640C>A c.804C>A (p.Ser268=) c.519C>A (p.Ser173=) n.102G>T c.915C>A (p.Ser305=) | |
6 | g.10404604G>A | CA362701425 | TFAP2A,TFAP2A-AS2 | c.650C>T (p.Ser217Phe) c.674C>T (p.Ser225Phe) c.*165C>T (n.*165C>T) c.239C>T (p.Ser80Phe) c.656C>T (p.Ser219Phe) c.668C>T (p.Ser223Phe) c.382C>T n.668C>T n.639C>T c.803C>T (p.Ser268Phe) c.518C>T (p.Ser173Phe) n.103G>A c.914C>T (p.Ser305Phe) | |
6 | g.10404604G>C | CA362701422 | TFAP2A,TFAP2A-AS2 | c.650C>G (p.Ser217Cys) c.674C>G (p.Ser225Cys) c.*165C>G (n.*165C>G) c.239C>G (p.Ser80Cys) c.656C>G (p.Ser219Cys) c.668C>G (p.Ser223Cys) c.382C>G n.668C>G n.639C>G c.803C>G (p.Ser268Cys) c.518C>G (p.Ser173Cys) n.103G>C c.914C>G (p.Ser305Cys) | |
6 | g.10404604G>T | CA362701424 | TFAP2A,TFAP2A-AS2 | c.650C>A (p.Ser217Tyr) c.674C>A (p.Ser225Tyr) c.*165C>A (n.*165C>A) c.239C>A (p.Ser80Tyr) c.656C>A (p.Ser219Tyr) c.668C>A (p.Ser223Tyr) c.382C>A n.668C>A n.639C>A c.803C>A (p.Ser268Tyr) c.518C>A (p.Ser173Tyr) n.103G>T c.914C>A (p.Ser305Tyr) | |
6 | g.10404605A>C | CA362701427 | TFAP2A,TFAP2A-AS2 | c.649T>G (p.Ser217Ala) c.673T>G (p.Ser225Ala) c.*164T>G (n.*164T>G) c.238T>G (p.Ser80Ala) c.655T>G (p.Ser219Ala) c.667T>G (p.Ser223Ala) c.381T>G n.667T>G n.638T>G c.802T>G (p.Ser268Ala) c.517T>G (p.Ser173Ala) n.104A>C c.913T>G (p.Ser305Ala) | gnomAD v4 |
6 | g.10404605A>G | CA362701429 | TFAP2A,TFAP2A-AS2 | c.649T>C (p.Ser217Pro) c.673T>C (p.Ser225Pro) c.*164T>C (n.*164T>C) c.238T>C (p.Ser80Pro) c.655T>C (p.Ser219Pro) c.667T>C (p.Ser223Pro) c.381T>C n.667T>C n.638T>C c.802T>C (p.Ser268Pro) c.517T>C (p.Ser173Pro) n.104A>G c.913T>C (p.Ser305Pro) | |
6 | g.10404605A>T | CA362701431 | TFAP2A,TFAP2A-AS2 | c.649T>A (p.Ser217Thr) c.673T>A (p.Ser225Thr) c.*164T>A (n.*164T>A) c.238T>A (p.Ser80Thr) c.655T>A (p.Ser219Thr) c.667T>A (p.Ser223Thr) c.381T>A n.667T>A n.638T>A c.802T>A (p.Ser268Thr) c.517T>A (p.Ser173Thr) n.104A>T c.913T>A (p.Ser305Thr) | |
6 | g.10404606G>A | CA448717643 | TFAP2A,TFAP2A-AS2 | c.648C>T (p.Ser216=) c.672C>T (p.Ser224=) c.*163C>T (n.*163C>T) c.237C>T (p.Ser79=) c.654C>T (p.Ser218=) c.666C>T (p.Ser222=) c.380C>T n.666C>T n.637C>T c.801C>T (p.Ser267=) c.516C>T (p.Ser172=) n.105G>A c.912C>T (p.Ser304=) | |
6 | g.10404606G>C | CA362701433 | TFAP2A,TFAP2A-AS2 | c.648C>G (p.Ser216Arg) c.672C>G (p.Ser224Arg) c.*163C>G (n.*163C>G) c.237C>G (p.Ser79Arg) c.654C>G (p.Ser218Arg) c.666C>G (p.Ser222Arg) c.380C>G n.666C>G n.637C>G c.801C>G (p.Ser267Arg) c.516C>G (p.Ser172Arg) n.105G>C c.912C>G (p.Ser304Arg) | |
6 | g.10404606G>T | CA362701434 | TFAP2A,TFAP2A-AS2 | c.648C>A (p.Ser216Arg) c.672C>A (p.Ser224Arg) c.*163C>A (n.*163C>A) c.237C>A (p.Ser79Arg) c.654C>A (p.Ser218Arg) c.666C>A (p.Ser222Arg) c.380C>A n.666C>A n.637C>A c.801C>A (p.Ser267Arg) c.516C>A (p.Ser172Arg) n.105G>T c.912C>A (p.Ser304Arg) | |
6 | g.10404607C>A | CA362701436 | TFAP2A,TFAP2A-AS2 | c.647G>T (p.Ser216Ile) c.671G>T (p.Ser224Ile) c.*162G>T (n.*162G>T) c.236G>T (p.Ser79Ile) c.653G>T (p.Ser218Ile) c.665G>T (p.Ser222Ile) c.379G>T n.665G>T n.636G>T c.800G>T (p.Ser267Ile) c.515G>T (p.Ser172Ile) n.106C>A c.911G>T (p.Ser304Ile) | |
6 | g.10404607C>G | CA362701438 | TFAP2A,TFAP2A-AS2 | c.647G>C (p.Ser216Thr) c.671G>C (p.Ser224Thr) c.*162G>C (n.*162G>C) c.236G>C (p.Ser79Thr) c.653G>C (p.Ser218Thr) c.665G>C (p.Ser222Thr) c.379G>C n.665G>C n.636G>C c.800G>C (p.Ser267Thr) c.515G>C (p.Ser172Thr) n.106C>G c.911G>C (p.Ser304Thr) | |
6 | g.10404607C>T | CA362701440 | TFAP2A,TFAP2A-AS2 | c.647G>A (p.Ser216Asn) c.671G>A (p.Ser224Asn) c.*162G>A (n.*162G>A) c.236G>A (p.Ser79Asn) c.653G>A (p.Ser218Asn) c.665G>A (p.Ser222Asn) c.379G>A n.665G>A n.636G>A c.800G>A (p.Ser267Asn) c.515G>A (p.Ser172Asn) n.106C>T c.911G>A (p.Ser304Asn) | |
6 | g.10404608T>A | CA362701442 | TFAP2A,TFAP2A-AS2 | c.646A>T (p.Ser216Cys) c.670A>T (p.Ser224Cys) c.*161A>T (n.*161A>T) c.235A>T (p.Ser79Cys) c.652A>T (p.Ser218Cys) c.664A>T (p.Ser222Cys) c.378A>T n.664A>T n.635A>T c.799A>T (p.Ser267Cys) c.514A>T (p.Ser172Cys) n.107T>A c.910A>T (p.Ser304Cys) | |
6 | g.10404608T>C | CA362701444 | TFAP2A,TFAP2A-AS2 | c.646A>G (p.Ser216Gly) c.670A>G (p.Ser224Gly) c.*161A>G (n.*161A>G) c.235A>G (p.Ser79Gly) c.652A>G (p.Ser218Gly) c.664A>G (p.Ser222Gly) c.378A>G n.664A>G n.635A>G c.799A>G (p.Ser267Gly) c.514A>G (p.Ser172Gly) n.107T>C c.910A>G (p.Ser304Gly) | |
6 | g.10404608T>G | CA362701446 | TFAP2A,TFAP2A-AS2 | c.646A>C (p.Ser216Arg) c.670A>C (p.Ser224Arg) c.*161A>C (n.*161A>C) c.235A>C (p.Ser79Arg) c.652A>C (p.Ser218Arg) c.664A>C (p.Ser222Arg) c.378A>C n.664A>C n.635A>C c.799A>C (p.Ser267Arg) c.514A>C (p.Ser172Arg) n.107T>G c.910A>C (p.Ser304Arg) | |
6 | g.10404609G>A | CA448717650 | TFAP2A,TFAP2A-AS2 | c.645C>T (p.Leu215=) c.669C>T (p.Leu223=) c.*160C>T (n.*160C>T) c.234C>T (p.Leu78=) c.651C>T (p.Leu217=) c.663C>T (p.Leu221=) c.377C>T n.663C>T n.634C>T c.798C>T (p.Leu266=) c.513C>T (p.Leu171=) n.108G>A c.909C>T (p.Leu303=) | COSMIC COSMIC COSMIC |
6 | g.10404609G>C | CA448717651 | TFAP2A,TFAP2A-AS2 | c.645C>G (p.Leu215=) c.669C>G (p.Leu223=) c.*160C>G (n.*160C>G) c.234C>G (p.Leu78=) c.651C>G (p.Leu217=) c.663C>G (p.Leu221=) c.377C>G n.663C>G n.634C>G c.798C>G (p.Leu266=) c.513C>G (p.Leu171=) n.108G>C c.909C>G (p.Leu303=) | |
6 | g.10404609G>T | CA448717652 | TFAP2A,TFAP2A-AS2 | c.645C>A (p.Leu215=) c.669C>A (p.Leu223=) c.*160C>A (n.*160C>A) c.234C>A (p.Leu78=) c.651C>A (p.Leu217=) c.663C>A (p.Leu221=) c.377C>A n.663C>A n.634C>A c.798C>A (p.Leu266=) c.513C>A (p.Leu171=) n.108G>T c.909C>A (p.Leu303=) | COSMIC COSMIC COSMIC |
6 | g.10404610A>C | CA362701452 | TFAP2A,TFAP2A-AS2 | c.644T>G (p.Leu215Arg) c.668T>G (p.Leu223Arg) c.*159T>G (n.*159T>G) c.233T>G (p.Leu78Arg) c.650T>G (p.Leu217Arg) c.662T>G (p.Leu221Arg) c.376T>G n.662T>G n.633T>G c.797T>G (p.Leu266Arg) c.512T>G (p.Leu171Arg) n.109A>C c.908T>G (p.Leu303Arg) | |
6 | g.10404610A>G | CA362701448 | TFAP2A,TFAP2A-AS2 | c.644T>C (p.Leu215Pro) c.668T>C (p.Leu223Pro) c.*159T>C (n.*159T>C) c.233T>C (p.Leu78Pro) c.650T>C (p.Leu217Pro) c.662T>C (p.Leu221Pro) c.376T>C n.662T>C n.633T>C c.797T>C (p.Leu266Pro) c.512T>C (p.Leu171Pro) n.109A>G c.908T>C (p.Leu303Pro) | |
6 | g.10404610A>T | CA362701450 | TFAP2A,TFAP2A-AS2 | c.644T>A (p.Leu215His) c.668T>A (p.Leu223His) c.*159T>A (n.*159T>A) c.233T>A (p.Leu78His) c.650T>A (p.Leu217His) c.662T>A (p.Leu221His) c.376T>A n.662T>A n.633T>A c.797T>A (p.Leu266His) c.512T>A (p.Leu171His) n.109A>T c.908T>A (p.Leu303His) | |
6 | g.10404611G>A | CA362701453 | TFAP2A,TFAP2A-AS2 | c.643C>T (p.Leu215Phe) c.667C>T (p.Leu223Phe) c.*158C>T (n.*158C>T) c.232C>T (p.Leu78Phe) c.649C>T (p.Leu217Phe) c.661C>T (p.Leu221Phe) c.375C>T n.661C>T n.632C>T c.796C>T (p.Leu266Phe) c.511C>T (p.Leu171Phe) n.110G>A c.907C>T (p.Leu303Phe) | |
6 | g.10404611G>C | CA362701454 | TFAP2A,TFAP2A-AS2 | c.643C>G (p.Leu215Val) c.667C>G (p.Leu223Val) c.*158C>G (n.*158C>G) c.232C>G (p.Leu78Val) c.649C>G (p.Leu217Val) c.661C>G (p.Leu221Val) c.375C>G n.661C>G n.632C>G c.796C>G (p.Leu266Val) c.511C>G (p.Leu171Val) n.110G>C c.907C>G (p.Leu303Val) | |
6 | g.10404611G>T | CA362701456 | TFAP2A,TFAP2A-AS2 | c.643C>A (p.Leu215Ile) c.667C>A (p.Leu223Ile) c.*158C>A (n.*158C>A) c.232C>A (p.Leu78Ile) c.649C>A (p.Leu217Ile) c.661C>A (p.Leu221Ile) c.375C>A n.661C>A n.632C>A c.796C>A (p.Leu266Ile) c.511C>A (p.Leu171Ile) n.110G>T c.907C>A (p.Leu303Ile) | |
6 | g.10404612G>A | CA448717658 | TFAP2A,TFAP2A-AS2 | c.642C>T (p.Leu214=) c.666C>T (p.Leu222=) c.*157C>T (n.*157C>T) c.231C>T (p.Leu77=) c.648C>T (p.Leu216=) c.660C>T (p.Leu220=) c.374C>T n.660C>T n.631C>T c.795C>T (p.Leu265=) c.510C>T (p.Leu170=) n.111G>A c.906C>T (p.Leu302=) | |
6 | g.10404612G>C | CA448717659 | TFAP2A,TFAP2A-AS2 | c.642C>G (p.Leu214=) c.666C>G (p.Leu222=) c.*157C>G (n.*157C>G) c.231C>G (p.Leu77=) c.648C>G (p.Leu216=) c.660C>G (p.Leu220=) c.374C>G n.660C>G n.631C>G c.795C>G (p.Leu265=) c.510C>G (p.Leu170=) n.111G>C c.906C>G (p.Leu302=) | gnomAD v4 |
6 | g.10404612G= | CA1609976766 | TFAP2A,TFAP2A-AS2 | c.642C= (p.Leu214=) c.666C= (p.Leu222=) c.*157C= (n.*157C=) c.231C= (p.Leu77=) c.648C= (p.Leu216=) c.660C= (p.Leu220=) c.374C= n.660C= n.631C= c.795C= (p.Leu265=) c.510C= (p.Leu170=) n.111G= c.906C= (p.Leu302=) | |
6 | g.10404612G>T | CA448717657 | TFAP2A,TFAP2A-AS2 | c.642C>A (p.Leu214=) c.666C>A (p.Leu222=) c.*157C>A (n.*157C>A) c.231C>A (p.Leu77=) c.648C>A (p.Leu216=) c.660C>A (p.Leu220=) c.374C>A n.660C>A n.631C>A c.795C>A (p.Leu265=) c.510C>A (p.Leu170=) n.111G>T c.906C>A (p.Leu302=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404613A>C | CA362701458 | TFAP2A,TFAP2A-AS2 | c.641T>G (p.Leu214Arg) c.665T>G (p.Leu222Arg) c.*156T>G (n.*156T>G) c.230T>G (p.Leu77Arg) c.647T>G (p.Leu216Arg) c.659T>G (p.Leu220Arg) c.373T>G n.659T>G n.630T>G c.794T>G (p.Leu265Arg) c.509T>G (p.Leu170Arg) n.112A>C c.905T>G (p.Leu302Arg) | |
6 | g.10404613A>G | CA362701459 | TFAP2A,TFAP2A-AS2 | c.641T>C (p.Leu214Pro) c.665T>C (p.Leu222Pro) c.*156T>C (n.*156T>C) c.230T>C (p.Leu77Pro) c.647T>C (p.Leu216Pro) c.659T>C (p.Leu220Pro) c.373T>C n.659T>C n.630T>C c.794T>C (p.Leu265Pro) c.509T>C (p.Leu170Pro) n.112A>G c.905T>C (p.Leu302Pro) | |
6 | g.10404613A>T | CA362701461 | TFAP2A,TFAP2A-AS2 | c.641T>A (p.Leu214His) c.665T>A (p.Leu222His) c.*156T>A (n.*156T>A) c.230T>A (p.Leu77His) c.647T>A (p.Leu216His) c.659T>A (p.Leu220His) c.373T>A n.659T>A n.630T>A c.794T>A (p.Leu265His) c.509T>A (p.Leu170His) n.112A>T c.905T>A (p.Leu302His) | |
6 | g.10404614G>A | CA362701463 | TFAP2A,TFAP2A-AS2 | c.640C>T (p.Leu214Phe) c.664C>T (p.Leu222Phe) c.*155C>T (n.*155C>T) c.229C>T (p.Leu77Phe) c.646C>T (p.Leu216Phe) c.658C>T (p.Leu220Phe) c.372C>T n.658C>T n.629C>T c.793C>T (p.Leu265Phe) c.508C>T (p.Leu170Phe) n.113G>A c.904C>T (p.Leu302Phe) | |
6 | g.10404614G>C | CA362701465 | TFAP2A,TFAP2A-AS2 | c.640C>G (p.Leu214Val) c.664C>G (p.Leu222Val) c.*155C>G (n.*155C>G) c.229C>G (p.Leu77Val) c.646C>G (p.Leu216Val) c.658C>G (p.Leu220Val) c.372C>G n.658C>G n.629C>G c.793C>G (p.Leu265Val) c.508C>G (p.Leu170Val) n.113G>C c.904C>G (p.Leu302Val) | |
6 | g.10404614G>T | CA362701466 | TFAP2A,TFAP2A-AS2 | c.640C>A (p.Leu214Ile) c.664C>A (p.Leu222Ile) c.*155C>A (n.*155C>A) c.229C>A (p.Leu77Ile) c.646C>A (p.Leu216Ile) c.658C>A (p.Leu220Ile) c.372C>A n.658C>A n.629C>A c.793C>A (p.Leu265Ile) c.508C>A (p.Leu170Ile) n.113G>T c.904C>A (p.Leu302Ile) | |
6 | g.10404615C>A | CA448717666 | TFAP2A,TFAP2A-AS2 | c.639G>T (p.Ser213=) c.663G>T (p.Ser221=) c.*154G>T (n.*154G>T) c.228G>T (p.Ser76=) c.645G>T (p.Ser215=) c.657G>T (p.Ser219=) c.371G>T n.657G>T n.628G>T c.792G>T (p.Ser264=) c.507G>T (p.Ser169=) n.114C>A c.903G>T (p.Ser301=) | |
6 | g.10404615C= | CA1609976767 | TFAP2A,TFAP2A-AS2 | c.639G= (p.Ser213=) c.663G= (p.Ser221=) c.*154G= (n.*154G=) c.228G= (p.Ser76=) c.645G= (p.Ser215=) c.657G= (p.Ser219=) c.371G= n.657G= n.628G= c.792G= (p.Ser264=) c.507G= (p.Ser169=) n.114C= c.903G= (p.Ser301=) | |
6 | g.10404615C>G | CA448717667 | TFAP2A,TFAP2A-AS2 | c.639G>C (p.Ser213=) c.663G>C (p.Ser221=) c.*154G>C (n.*154G>C) c.228G>C (p.Ser76=) c.645G>C (p.Ser215=) c.657G>C (p.Ser219=) c.371G>C n.657G>C n.628G>C c.792G>C (p.Ser264=) c.507G>C (p.Ser169=) n.114C>G c.903G>C (p.Ser301=) | gnomAD v4 |
6 | g.10404615C>T | CA448717668 | TFAP2A,TFAP2A-AS2 | c.639G>A (p.Ser213=) c.663G>A (p.Ser221=) c.*154G>A (n.*154G>A) c.228G>A (p.Ser76=) c.645G>A (p.Ser215=) c.657G>A (p.Ser219=) c.371G>A n.657G>A n.628G>A c.792G>A (p.Ser264=) c.507G>A (p.Ser169=) n.114C>T c.903G>A (p.Ser301=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404616G>A | CA362701468 | TFAP2A,TFAP2A-AS2 | c.638C>T (p.Ser213Leu) c.662C>T (p.Ser221Leu) c.*153C>T (n.*153C>T) c.227C>T (p.Ser76Leu) c.644C>T (p.Ser215Leu) c.656C>T (p.Ser219Leu) c.370C>T n.656C>T n.627C>T c.791C>T (p.Ser264Leu) c.506C>T (p.Ser169Leu) n.115G>A c.902C>T (p.Ser301Leu) | |
6 | g.10404616G>C | CA362701470 | TFAP2A,TFAP2A-AS2 | c.638C>G (p.Ser213Trp) c.662C>G (p.Ser221Trp) c.*153C>G (n.*153C>G) c.227C>G (p.Ser76Trp) c.644C>G (p.Ser215Trp) c.656C>G (p.Ser219Trp) c.370C>G n.656C>G n.627C>G c.791C>G (p.Ser264Trp) c.506C>G (p.Ser169Trp) n.115G>C c.902C>G (p.Ser301Trp) | |
6 | g.10404616G>T | CA362701472 | TFAP2A,TFAP2A-AS2 | c.638C>A (p.Ser213Ter) c.662C>A (p.Ser221Ter) c.*153C>A (n.*153C>A) c.227C>A (p.Ser76Ter) c.644C>A (p.Ser215Ter) c.656C>A (p.Ser219Ter) c.370C>A n.656C>A n.627C>A c.791C>A (p.Ser264Ter) c.506C>A (p.Ser169Ter) n.115G>T c.902C>A (p.Ser301Ter) | |
6 | g.10404617A>C | CA362701476 | TFAP2A,TFAP2A-AS2 | c.637T>G (p.Ser213Ala) c.661T>G (p.Ser221Ala) c.*152T>G (n.*152T>G) c.226T>G (p.Ser76Ala) c.643T>G (p.Ser215Ala) c.655T>G (p.Ser219Ala) c.369T>G n.655T>G n.626T>G c.790T>G (p.Ser264Ala) c.505T>G (p.Ser169Ala) n.116A>C c.901T>G (p.Ser301Ala) | |
6 | g.10404617A>G | CA362701478 | TFAP2A,TFAP2A-AS2 | c.637T>C (p.Ser213Pro) c.661T>C (p.Ser221Pro) c.*152T>C (n.*152T>C) c.226T>C (p.Ser76Pro) c.643T>C (p.Ser215Pro) c.655T>C (p.Ser219Pro) c.369T>C n.655T>C n.626T>C c.790T>C (p.Ser264Pro) c.505T>C (p.Ser169Pro) n.116A>G c.901T>C (p.Ser301Pro) | |
6 | g.10404617A>T | CA362701474 | TFAP2A,TFAP2A-AS2 | c.637T>A (p.Ser213Thr) c.661T>A (p.Ser221Thr) c.*152T>A (n.*152T>A) c.226T>A (p.Ser76Thr) c.643T>A (p.Ser215Thr) c.655T>A (p.Ser219Thr) c.369T>A n.655T>A n.626T>A c.790T>A (p.Ser264Thr) c.505T>A (p.Ser169Thr) n.116A>T c.901T>A (p.Ser301Thr) | |
6 | g.10404618G>A | CA3631273 | TFAP2A,TFAP2A-AS2 | c.636C>T (p.Leu212=) c.660C>T (p.Leu220=) c.*151C>T (n.*151C>T) c.225C>T (p.Leu75=) c.642C>T (p.Leu214=) c.654C>T (p.Leu218=) c.368C>T n.654C>T n.625C>T c.789C>T (p.Leu263=) c.504C>T (p.Leu168=) n.117G>A c.900C>T (p.Leu300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404618G>C | CA448717672 | TFAP2A,TFAP2A-AS2 | c.636C>G (p.Leu212=) c.660C>G (p.Leu220=) c.*151C>G (n.*151C>G) c.225C>G (p.Leu75=) c.642C>G (p.Leu214=) c.654C>G (p.Leu218=) c.368C>G n.654C>G n.625C>G c.789C>G (p.Leu263=) c.504C>G (p.Leu168=) n.117G>C c.900C>G (p.Leu300=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.10404618G= | CA1609976768 | TFAP2A,TFAP2A-AS2 | c.636C= (p.Leu212=) c.660C= (p.Leu220=) c.*151C= (n.*151C=) c.225C= (p.Leu75=) c.642C= (p.Leu214=) c.654C= (p.Leu218=) c.368C= n.654C= n.625C= c.789C= (p.Leu263=) c.504C= (p.Leu168=) n.117G= c.900C= (p.Leu300=) | |
6 | g.10404618G>T | CA448717671 | TFAP2A,TFAP2A-AS2 | c.636C>A (p.Leu212=) c.660C>A (p.Leu220=) c.*151C>A (n.*151C>A) c.225C>A (p.Leu75=) c.642C>A (p.Leu214=) c.654C>A (p.Leu218=) c.368C>A n.654C>A n.625C>A c.789C>A (p.Leu263=) c.504C>A (p.Leu168=) n.117G>T c.900C>A (p.Leu300=) | |
6 | g.10404619A>C | CA362701479 | TFAP2A,TFAP2A-AS2 | c.635T>G (p.Leu212Arg) c.659T>G (p.Leu220Arg) c.*150T>G (n.*150T>G) c.224T>G (p.Leu75Arg) c.641T>G (p.Leu214Arg) c.653T>G (p.Leu218Arg) c.367T>G n.653T>G n.624T>G c.788T>G (p.Leu263Arg) c.503T>G (p.Leu168Arg) n.118A>C c.899T>G (p.Leu300Arg) | |
6 | g.10404619A>G | CA362701481 | TFAP2A,TFAP2A-AS2 | c.635T>C (p.Leu212Pro) c.659T>C (p.Leu220Pro) c.*150T>C (n.*150T>C) c.224T>C (p.Leu75Pro) c.641T>C (p.Leu214Pro) c.653T>C (p.Leu218Pro) c.367T>C n.653T>C n.624T>C c.788T>C (p.Leu263Pro) c.503T>C (p.Leu168Pro) n.118A>G c.899T>C (p.Leu300Pro) | ClinVar |
6 | g.10404619A>T | CA362701483 | TFAP2A,TFAP2A-AS2 | c.635T>A (p.Leu212His) c.659T>A (p.Leu220His) c.*150T>A (n.*150T>A) c.224T>A (p.Leu75His) c.641T>A (p.Leu214His) c.653T>A (p.Leu218His) c.367T>A n.653T>A n.624T>A c.788T>A (p.Leu263His) c.503T>A (p.Leu168His) n.118A>T c.899T>A (p.Leu300His) | |
6 | g.10404620G>A | CA362701485 | TFAP2A,TFAP2A-AS2 | c.634C>T (p.Leu212Phe) c.658C>T (p.Leu220Phe) c.*149C>T (n.*149C>T) c.223C>T (p.Leu75Phe) c.640C>T (p.Leu214Phe) c.652C>T (p.Leu218Phe) c.366C>T n.652C>T n.623C>T c.787C>T (p.Leu263Phe) c.502C>T (p.Leu168Phe) n.119G>A c.898C>T (p.Leu300Phe) | |
6 | g.10404620G>C | CA362701487 | TFAP2A,TFAP2A-AS2 | c.634C>G (p.Leu212Val) c.658C>G (p.Leu220Val) c.*149C>G (n.*149C>G) c.223C>G (p.Leu75Val) c.640C>G (p.Leu214Val) c.652C>G (p.Leu218Val) c.366C>G n.652C>G n.623C>G c.787C>G (p.Leu263Val) c.502C>G (p.Leu168Val) n.119G>C c.898C>G (p.Leu300Val) | |
6 | g.10404620G>T | CA362701489 | TFAP2A,TFAP2A-AS2 | c.634C>A (p.Leu212Ile) c.658C>A (p.Leu220Ile) c.*149C>A (n.*149C>A) c.223C>A (p.Leu75Ile) c.640C>A (p.Leu214Ile) c.652C>A (p.Leu218Ile) c.366C>A n.652C>A n.623C>A c.787C>A (p.Leu263Ile) c.502C>A (p.Leu168Ile) n.119G>T c.898C>A (p.Leu300Ile) | |
6 | g.10404621G>A | CA3631274 | TFAP2A,TFAP2A-AS2 | c.633C>T (p.Arg211=) c.657C>T (p.Arg219=) c.*148C>T (n.*148C>T) c.222C>T (p.Arg74=) c.639C>T (p.Arg213=) c.651C>T (p.Arg217=) c.365C>T n.651C>T n.893C>T n.622C>T c.786C>T (p.Arg262=) c.501C>T (p.Arg167=) n.120G>A c.897C>T (p.Arg299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404621G>C | CA448717679 | TFAP2A,TFAP2A-AS2 | c.633C>G (p.Arg211=) c.657C>G (p.Arg219=) c.*148C>G (n.*148C>G) c.222C>G (p.Arg74=) c.639C>G (p.Arg213=) c.651C>G (p.Arg217=) c.365C>G n.651C>G n.893C>G n.622C>G c.786C>G (p.Arg262=) c.501C>G (p.Arg167=) n.120G>C c.897C>G (p.Arg299=) | |
6 | g.10404621G= | CA1609976769 | TFAP2A,TFAP2A-AS2 | c.633C= (p.Arg211=) c.657C= (p.Arg219=) c.*148C= (n.*148C=) c.222C= (p.Arg74=) c.639C= (p.Arg213=) c.651C= (p.Arg217=) c.365C= n.651C= n.893C= n.622C= c.786C= (p.Arg262=) c.501C= (p.Arg167=) n.120G= c.897C= (p.Arg299=) | |
6 | g.10404621G>T | CA448717680 | TFAP2A,TFAP2A-AS2 | c.633C>A (p.Arg211=) c.657C>A (p.Arg219=) c.*148C>A (n.*148C>A) c.222C>A (p.Arg74=) c.639C>A (p.Arg213=) c.651C>A (p.Arg217=) c.365C>A n.651C>A n.893C>A n.622C>A c.786C>A (p.Arg262=) c.501C>A (p.Arg167=) n.120G>T c.897C>A (p.Arg299=) | |
6 | g.10404622C>A | CA362701491 | TFAP2A,TFAP2A-AS2 | c.632G>T (p.Arg211Leu) c.656G>T (p.Arg219Leu) c.*147G>T (n.*147G>T) c.221G>T (p.Arg74Leu) c.638G>T (p.Arg213Leu) c.650G>T (p.Arg217Leu) c.364G>T n.650G>T n.892G>T n.621G>T c.785G>T (p.Arg262Leu) c.500G>T (p.Arg167Leu) n.121C>A c.896G>T (p.Arg299Leu) | ClinVar dbSNP |
6 | g.10404622C= | CA1609976770 | TFAP2A,TFAP2A-AS2 | c.632G= (p.Arg211=) c.656G= (p.Arg219=) c.*147G= (n.*147G=) c.221G= (p.Arg74=) c.638G= (p.Arg213=) c.650G= (p.Arg217=) c.364G= n.650G= n.892G= n.621G= c.785G= (p.Arg262=) c.500G= (p.Arg167=) n.121C= c.896G= (p.Arg299=) | |
6 | g.10404622C>G | CA362701493 | TFAP2A,TFAP2A-AS2 | c.632G>C (p.Arg211Pro) c.656G>C (p.Arg219Pro) c.*147G>C (n.*147G>C) c.221G>C (p.Arg74Pro) c.638G>C (p.Arg213Pro) c.650G>C (p.Arg217Pro) c.364G>C n.650G>C n.892G>C n.621G>C c.785G>C (p.Arg262Pro) c.500G>C (p.Arg167Pro) n.121C>G c.896G>C (p.Arg299Pro) | ClinVar |
6 | g.10404622C>T | CA362701495 | TFAP2A,TFAP2A-AS2 | c.632G>A (p.Arg211His) c.656G>A (p.Arg219His) c.*147G>A (n.*147G>A) c.221G>A (p.Arg74His) c.638G>A (p.Arg213His) c.650G>A (p.Arg217His) c.364G>A n.650G>A n.892G>A n.621G>A c.785G>A (p.Arg262His) c.500G>A (p.Arg167His) n.121C>T c.896G>A (p.Arg299His) | |
6 | g.10404623G>A | CA362701497 | TFAP2A,TFAP2A-AS2 | c.631C>T (p.Arg211Cys) c.655C>T (p.Arg219Cys) c.*146C>T (n.*146C>T) c.220C>T (p.Arg74Cys) c.637C>T (p.Arg213Cys) c.649C>T (p.Arg217Cys) c.363C>T n.649C>T n.891C>T n.620C>T c.784C>T (p.Arg262Cys) c.499C>T (p.Arg167Cys) n.122G>A c.895C>T (p.Arg299Cys) | gnomAD v4 |
6 | g.10404623G>C | CA362701498 | TFAP2A,TFAP2A-AS2 | c.631C>G (p.Arg211Gly) c.655C>G (p.Arg219Gly) c.*146C>G (n.*146C>G) c.220C>G (p.Arg74Gly) c.637C>G (p.Arg213Gly) c.649C>G (p.Arg217Gly) c.363C>G n.649C>G n.891C>G n.620C>G c.784C>G (p.Arg262Gly) c.499C>G (p.Arg167Gly) n.122G>C c.895C>G (p.Arg299Gly) | |
6 | g.10404623G= | CA1609976771 | TFAP2A,TFAP2A-AS2 | c.631C= (p.Arg211=) c.655C= (p.Arg219=) c.*146C= (n.*146C=) c.220C= (p.Arg74=) c.637C= (p.Arg213=) c.649C= (p.Arg217=) c.363C= n.649C= n.891C= n.620C= c.784C= (p.Arg262=) c.499C= (p.Arg167=) n.122G= c.895C= (p.Arg299=) | |
6 | g.10404623G>T | CA004715 | TFAP2A,TFAP2A-AS2 | c.631C>A (p.Arg211Ser) c.655C>A (p.Arg219Ser) c.*146C>A (n.*146C>A) c.220C>A (p.Arg74Ser) c.637C>A (p.Arg213Ser) c.649C>A (p.Arg217Ser) c.363C>A n.649C>A n.891C>A n.620C>A c.784C>A (p.Arg262Ser) c.499C>A (p.Arg167Ser) n.122G>T c.895C>A (p.Arg299Ser) | ClinVar dbSNP |
6 | g.10404624A>C | CA448717684 | TFAP2A,TFAP2A-AS2 | c.630T>G (p.Gly210=) c.654T>G (p.Gly218=) c.*145T>G (n.*145T>G) c.219T>G (p.Gly73=) c.636T>G (p.Gly212=) c.648T>G (p.Gly216=) c.362T>G n.648T>G n.890T>G n.619T>G c.783T>G (p.Gly261=) c.498T>G (p.Gly166=) n.123A>C c.894T>G (p.Gly298=) | |
6 | g.10404624A>G | CA448717685 | TFAP2A,TFAP2A-AS2 | c.630T>C (p.Gly210=) c.654T>C (p.Gly218=) c.*145T>C (n.*145T>C) c.219T>C (p.Gly73=) c.636T>C (p.Gly212=) c.648T>C (p.Gly216=) c.362T>C n.648T>C n.890T>C n.619T>C c.783T>C (p.Gly261=) c.498T>C (p.Gly166=) n.123A>G c.894T>C (p.Gly298=) | |
6 | g.10404624A>T | CA448717686 | TFAP2A,TFAP2A-AS2 | c.630T>A (p.Gly210=) c.654T>A (p.Gly218=) c.*145T>A (n.*145T>A) c.219T>A (p.Gly73=) c.636T>A (p.Gly212=) c.648T>A (p.Gly216=) c.362T>A n.648T>A n.890T>A n.619T>A c.783T>A (p.Gly261=) c.498T>A (p.Gly166=) n.123A>T c.894T>A (p.Gly298=) | |
6 | g.10404625C>A | CA362701505 | TFAP2A,TFAP2A-AS2 | c.629G>T (p.Gly210Val) c.653G>T (p.Gly218Val) c.*144G>T (n.*144G>T) c.218G>T (p.Gly73Val) c.635G>T (p.Gly212Val) c.647G>T (p.Gly216Val) c.361G>T n.647G>T n.889G>T n.618G>T c.782G>T (p.Gly261Val) c.497G>T (p.Gly166Val) n.124C>A c.893G>T (p.Gly298Val) | |
6 | g.10404625C>G | CA362701501 | TFAP2A,TFAP2A-AS2 | c.629G>C (p.Gly210Ala) c.653G>C (p.Gly218Ala) c.*144G>C (n.*144G>C) c.218G>C (p.Gly73Ala) c.635G>C (p.Gly212Ala) c.647G>C (p.Gly216Ala) c.361G>C n.647G>C n.889G>C n.618G>C c.782G>C (p.Gly261Ala) c.497G>C (p.Gly166Ala) n.124C>G c.893G>C (p.Gly298Ala) | |
6 | g.10404625C>T | CA362701503 | TFAP2A,TFAP2A-AS2 | c.629G>A (p.Gly210Asp) c.653G>A (p.Gly218Asp) c.*144G>A (n.*144G>A) c.218G>A (p.Gly73Asp) c.635G>A (p.Gly212Asp) c.647G>A (p.Gly216Asp) c.361G>A n.647G>A n.889G>A n.618G>A c.782G>A (p.Gly261Asp) c.497G>A (p.Gly166Asp) n.124C>T c.893G>A (p.Gly298Asp) | |
6 | g.10404626C>A | CA362701507 | TFAP2A,TFAP2A-AS2 | c.628G>T (p.Gly210Cys) c.652G>T (p.Gly218Cys) c.*143G>T (n.*143G>T) c.217G>T (p.Gly73Cys) c.634G>T (p.Gly212Cys) c.646G>T (p.Gly216Cys) c.360G>T n.646G>T n.888G>T n.617G>T c.781G>T (p.Gly261Cys) c.496G>T (p.Gly166Cys) n.125C>A c.892G>T (p.Gly298Cys) | COSMIC COSMIC COSMIC |
6 | g.10404626C>G | CA362701508 | TFAP2A,TFAP2A-AS2 | c.628G>C (p.Gly210Arg) c.652G>C (p.Gly218Arg) c.*143G>C (n.*143G>C) c.217G>C (p.Gly73Arg) c.634G>C (p.Gly212Arg) c.646G>C (p.Gly216Arg) c.360G>C n.646G>C n.888G>C n.617G>C c.781G>C (p.Gly261Arg) c.496G>C (p.Gly166Arg) n.125C>G c.892G>C (p.Gly298Arg) | |
6 | g.10404626C>T | CA362701510 | TFAP2A,TFAP2A-AS2 | c.628G>A (p.Gly210Ser) c.652G>A (p.Gly218Ser) c.*143G>A (n.*143G>A) c.217G>A (p.Gly73Ser) c.634G>A (p.Gly212Ser) c.646G>A (p.Gly216Ser) c.360G>A n.646G>A n.888G>A n.617G>A c.781G>A (p.Gly261Ser) c.496G>A (p.Gly166Ser) n.125C>T c.892G>A (p.Gly298Ser) | gnomAD v4 |
6 | g.10404627C>A | CA448717689 | TFAP2A,TFAP2A-AS2 | c.627G>T (p.Pro209=) c.651G>T (p.Pro217=) c.*142G>T (n.*142G>T) c.216G>T (p.Pro72=) c.633G>T (p.Pro211=) c.645G>T (p.Pro215=) c.359G>T n.645G>T n.887G>T n.616G>T c.780G>T (p.Pro260=) c.495G>T (p.Pro165=) n.126C>A c.891G>T (p.Pro297=) | |
6 | g.10404627C>G | CA448717690 | TFAP2A,TFAP2A-AS2 | c.627G>C (p.Pro209=) c.651G>C (p.Pro217=) c.*142G>C (n.*142G>C) c.216G>C (p.Pro72=) c.633G>C (p.Pro211=) c.645G>C (p.Pro215=) c.359G>C n.645G>C n.887G>C n.616G>C c.780G>C (p.Pro260=) c.495G>C (p.Pro165=) n.126C>G c.891G>C (p.Pro297=) | |
6 | g.10404627C>T | CA448717691 | TFAP2A,TFAP2A-AS2 | c.627G>A (p.Pro209=) c.651G>A (p.Pro217=) c.*142G>A (n.*142G>A) c.216G>A (p.Pro72=) c.633G>A (p.Pro211=) c.645G>A (p.Pro215=) c.359G>A n.645G>A n.887G>A n.616G>A c.780G>A (p.Pro260=) c.495G>A (p.Pro165=) n.126C>T c.891G>A (p.Pro297=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.10404628G>A | CA362701512 | TFAP2A,TFAP2A-AS2 | c.626C>T (p.Pro209Leu) c.650C>T (p.Pro217Leu) c.*141C>T (n.*141C>T) c.215C>T (p.Pro72Leu) c.632C>T (p.Pro211Leu) c.644C>T (p.Pro215Leu) c.358C>T n.644C>T n.886C>T n.615C>T c.779C>T (p.Pro260Leu) c.494C>T (p.Pro165Leu) n.127G>A c.890C>T (p.Pro297Leu) | dbSNP gnomAD v4 |
6 | g.10404628G>C | CA362701514 | TFAP2A,TFAP2A-AS2 | c.626C>G (p.Pro209Arg) c.650C>G (p.Pro217Arg) c.*141C>G (n.*141C>G) c.215C>G (p.Pro72Arg) c.632C>G (p.Pro211Arg) c.644C>G (p.Pro215Arg) c.358C>G n.644C>G n.886C>G n.615C>G c.779C>G (p.Pro260Arg) c.494C>G (p.Pro165Arg) n.127G>C c.890C>G (p.Pro297Arg) | |
6 | g.10404628G>T | CA362701516 | TFAP2A,TFAP2A-AS2 | c.626C>A (p.Pro209Gln) c.650C>A (p.Pro217Gln) c.*141C>A (n.*141C>A) c.215C>A (p.Pro72Gln) c.632C>A (p.Pro211Gln) c.644C>A (p.Pro215Gln) c.358C>A n.644C>A n.886C>A n.615C>A c.779C>A (p.Pro260Gln) c.494C>A (p.Pro165Gln) n.127G>T c.890C>A (p.Pro297Gln) | |
6 | g.10404629G>A | CA362701518 | TFAP2A,TFAP2A-AS2 | c.625C>T (p.Pro209Ser) c.649C>T (p.Pro217Ser) c.*140C>T (n.*140C>T) c.214C>T (p.Pro72Ser) c.631C>T (p.Pro211Ser) c.643C>T (p.Pro215Ser) c.357C>T n.643C>T n.885C>T n.614C>T c.778C>T (p.Pro260Ser) c.493C>T (p.Pro165Ser) n.128G>A c.889C>T (p.Pro297Ser) | |
6 | g.10404629G>C | CA362701520 | TFAP2A,TFAP2A-AS2 | c.625C>G (p.Pro209Ala) c.649C>G (p.Pro217Ala) c.*140C>G (n.*140C>G) c.214C>G (p.Pro72Ala) c.631C>G (p.Pro211Ala) c.643C>G (p.Pro215Ala) c.357C>G n.643C>G n.885C>G n.614C>G c.778C>G (p.Pro260Ala) c.493C>G (p.Pro165Ala) n.128G>C c.889C>G (p.Pro297Ala) | |
6 | g.10404629G>T | CA362701522 | TFAP2A,TFAP2A-AS2 | c.625C>A (p.Pro209Thr) c.649C>A (p.Pro217Thr) c.*140C>A (n.*140C>A) c.214C>A (p.Pro72Thr) c.631C>A (p.Pro211Thr) c.643C>A (p.Pro215Thr) c.357C>A n.643C>A n.885C>A n.614C>A c.778C>A (p.Pro260Thr) c.493C>A (p.Pro165Thr) n.128G>T c.889C>A (p.Pro297Thr) | |
6 | g.10404630A>C | CA448717698 | TFAP2A,TFAP2A-AS2 | c.624T>G (p.Val208=) c.648T>G (p.Val216=) c.*139T>G (n.*139T>G) c.213T>G (p.Val71=) c.630T>G (p.Val210=) c.642T>G (p.Val214=) c.356T>G n.642T>G n.884T>G n.613T>G c.777T>G (p.Val259=) c.492T>G (p.Val164=) n.129A>C c.888T>G (p.Val296=) | |
6 | g.10404630A>G | CA448717699 | TFAP2A,TFAP2A-AS2 | c.624T>C (p.Val208=) c.648T>C (p.Val216=) c.*139T>C (n.*139T>C) c.213T>C (p.Val71=) c.630T>C (p.Val210=) c.642T>C (p.Val214=) c.356T>C n.642T>C n.884T>C n.613T>C c.777T>C (p.Val259=) c.492T>C (p.Val164=) n.129A>G c.888T>C (p.Val296=) | |
6 | g.10404630A>T | CA448717700 | TFAP2A,TFAP2A-AS2 | c.624T>A (p.Val208=) c.648T>A (p.Val216=) c.*139T>A (n.*139T>A) c.213T>A (p.Val71=) c.630T>A (p.Val210=) c.642T>A (p.Val214=) c.356T>A n.642T>A n.884T>A n.613T>A c.777T>A (p.Val259=) c.492T>A (p.Val164=) n.129A>T c.888T>A (p.Val296=) | |
6 | g.10404631A= | CA1609976772 | TFAP2A,TFAP2A-AS2 | c.623T= (p.Val208=) c.647T= (p.Val216=) c.*138T= (n.*138T=) c.212T= (p.Val71=) c.629T= (p.Val210=) c.641T= (p.Val214=) c.355T= n.641T= n.883T= n.612T= c.776T= (p.Val259=) c.491T= (p.Val164=) n.130A= c.887T= (p.Val296=) | |
6 | g.10404631A>C | CA362701524 | TFAP2A,TFAP2A-AS2 | c.623T>G (p.Val208Gly) c.647T>G (p.Val216Gly) c.*138T>G (n.*138T>G) c.212T>G (p.Val71Gly) c.629T>G (p.Val210Gly) c.641T>G (p.Val214Gly) c.355T>G n.641T>G n.883T>G n.612T>G c.776T>G (p.Val259Gly) c.491T>G (p.Val164Gly) n.130A>C c.887T>G (p.Val296Gly) | |
6 | g.10404631A>G | CA362701526 | TFAP2A,TFAP2A-AS2 | c.623T>C (p.Val208Ala) c.647T>C (p.Val216Ala) c.*138T>C (n.*138T>C) c.212T>C (p.Val71Ala) c.629T>C (p.Val210Ala) c.641T>C (p.Val214Ala) c.355T>C n.641T>C n.883T>C n.612T>C c.776T>C (p.Val259Ala) c.491T>C (p.Val164Ala) n.130A>G c.887T>C (p.Val296Ala) | |
6 | g.10404631A>T | CA004709 | TFAP2A,TFAP2A-AS2 | c.623T>A (p.Val208Asp) c.647T>A (p.Val216Asp) c.*138T>A (n.*138T>A) c.212T>A (p.Val71Asp) c.629T>A (p.Val210Asp) c.641T>A (p.Val214Asp) c.355T>A n.641T>A n.883T>A n.612T>A c.776T>A (p.Val259Asp) c.491T>A (p.Val164Asp) n.130A>T c.887T>A (p.Val296Asp) | ClinVar dbSNP |
6 | g.10404632C>A | CA362701529 | TFAP2A,TFAP2A-AS2 | c.622G>T (p.Val208Phe) c.646G>T (p.Val216Phe) c.*137G>T (n.*137G>T) c.211G>T (p.Val71Phe) c.628G>T (p.Val210Phe) c.640G>T (p.Val214Phe) c.354G>T n.640G>T n.882G>T n.611G>T c.775G>T (p.Val259Phe) c.490G>T (p.Val164Phe) n.131C>A c.886G>T (p.Val296Phe) | |
6 | g.10404632C= | CA1609976773 | TFAP2A,TFAP2A-AS2 | c.622G= (p.Val208=) c.646G= (p.Val216=) c.*137G= (n.*137G=) c.211G= (p.Val71=) c.628G= (p.Val210=) c.640G= (p.Val214=) c.354G= n.640G= n.882G= n.611G= c.775G= (p.Val259=) c.490G= (p.Val164=) n.131C= c.886G= (p.Val296=) | |
6 | g.10404632C>G | CA362701532 | TFAP2A,TFAP2A-AS2 | c.622G>C (p.Val208Leu) c.646G>C (p.Val216Leu) c.*137G>C (n.*137G>C) c.211G>C (p.Val71Leu) c.628G>C (p.Val210Leu) c.640G>C (p.Val214Leu) c.354G>C n.640G>C n.882G>C n.611G>C c.775G>C (p.Val259Leu) c.490G>C (p.Val164Leu) n.131C>G c.886G>C (p.Val296Leu) | |
6 | g.10404632C>T | CA362701531 | TFAP2A,TFAP2A-AS2 | c.622G>A (p.Val208Ile) c.646G>A (p.Val216Ile) c.*137G>A (n.*137G>A) c.211G>A (p.Val71Ile) c.628G>A (p.Val210Ile) c.640G>A (p.Val214Ile) c.354G>A n.640G>A n.882G>A n.611G>A c.775G>A (p.Val259Ile) c.490G>A (p.Val164Ile) n.131C>T c.886G>A (p.Val296Ile) | dbSNP |
6 | g.10404633T>A | CA448717706 | TFAP2A,TFAP2A-AS2 | c.621A>T (p.Ser207=) c.645A>T (p.Ser215=) c.*136A>T (n.*136A>T) c.210A>T (p.Ser70=) c.627A>T (p.Ser209=) c.639A>T (p.Ser213=) c.353A>T n.639A>T n.881A>T n.610A>T c.774A>T (p.Ser258=) c.489A>T (p.Ser163=) n.132T>A c.885A>T (p.Ser295=) | |
6 | g.10404633T>C | CA448717704 | TFAP2A,TFAP2A-AS2 | c.621A>G (p.Ser207=) c.645A>G (p.Ser215=) c.*136A>G (n.*136A>G) c.210A>G (p.Ser70=) c.627A>G (p.Ser209=) c.639A>G (p.Ser213=) c.353A>G n.639A>G n.881A>G n.610A>G c.774A>G (p.Ser258=) c.489A>G (p.Ser163=) n.132T>C c.885A>G (p.Ser295=) | |
6 | g.10404633T>G | CA448717703 | TFAP2A,TFAP2A-AS2 | c.621A>C (p.Ser207=) c.645A>C (p.Ser215=) c.*136A>C (n.*136A>C) c.210A>C (p.Ser70=) c.627A>C (p.Ser209=) c.639A>C (p.Ser213=) c.353A>C n.639A>C n.881A>C n.610A>C c.774A>C (p.Ser258=) c.489A>C (p.Ser163=) n.132T>G c.885A>C (p.Ser295=) | |
6 | g.10404634G>A | CA134049170 | TFAP2A,TFAP2A-AS2 | c.620C>T (p.Ser207Leu) c.644C>T (p.Ser215Leu) c.*135C>T (n.*135C>T) c.209C>T (p.Ser70Leu) c.626C>T (p.Ser209Leu) c.638C>T (p.Ser213Leu) c.352C>T n.638C>T n.880C>T n.609C>T c.773C>T (p.Ser258Leu) c.488C>T (p.Ser163Leu) n.133G>A c.884C>T (p.Ser295Leu) | dbSNP COSMIC COSMIC COSMIC |
6 | g.10404634G>C | CA362701536 | TFAP2A,TFAP2A-AS2 | c.620C>G (p.Ser207Ter) c.644C>G (p.Ser215Ter) c.*135C>G (n.*135C>G) c.209C>G (p.Ser70Ter) c.626C>G (p.Ser209Ter) c.638C>G (p.Ser213Ter) c.352C>G n.638C>G n.880C>G n.609C>G c.773C>G (p.Ser258Ter) c.488C>G (p.Ser163Ter) n.133G>C c.884C>G (p.Ser295Ter) | |
6 | g.10404634G= | CA1609976774 | TFAP2A,TFAP2A-AS2 | c.620C= (p.Ser207=) c.644C= (p.Ser215=) c.*135C= (n.*135C=) c.209C= (p.Ser70=) c.626C= (p.Ser209=) c.638C= (p.Ser213=) c.352C= n.638C= n.880C= n.609C= c.773C= (p.Ser258=) c.488C= (p.Ser163=) n.133G= c.884C= (p.Ser295=) | |
6 | g.10404634G>T | CA362701537 | TFAP2A,TFAP2A-AS2 | c.620C>A (p.Ser207Ter) c.644C>A (p.Ser215Ter) c.*135C>A (n.*135C>A) c.209C>A (p.Ser70Ter) c.626C>A (p.Ser209Ter) c.638C>A (p.Ser213Ter) c.352C>A n.638C>A n.880C>A n.609C>A c.773C>A (p.Ser258Ter) c.488C>A (p.Ser163Ter) n.133G>T c.884C>A (p.Ser295Ter) | |
6 | g.10404635A>C | CA362701539 | TFAP2A,TFAP2A-AS2 | c.619T>G (p.Ser207Ala) c.643T>G (p.Ser215Ala) c.*134T>G (n.*134T>G) c.208T>G (p.Ser70Ala) c.625T>G (p.Ser209Ala) c.637T>G (p.Ser213Ala) c.351T>G n.637T>G n.879T>G n.608T>G c.772T>G (p.Ser258Ala) c.487T>G (p.Ser163Ala) n.134A>C c.883T>G (p.Ser295Ala) | |
6 | g.10404635A>G | CA362701541 | TFAP2A,TFAP2A-AS2 | c.619T>C (p.Ser207Pro) c.643T>C (p.Ser215Pro) c.*134T>C (n.*134T>C) c.208T>C (p.Ser70Pro) c.625T>C (p.Ser209Pro) c.637T>C (p.Ser213Pro) c.351T>C n.637T>C n.879T>C n.608T>C c.772T>C (p.Ser258Pro) c.487T>C (p.Ser163Pro) n.134A>G c.883T>C (p.Ser295Pro) | |
6 | g.10404635A>T | CA362701543 | TFAP2A,TFAP2A-AS2 | c.619T>A (p.Ser207Thr) c.643T>A (p.Ser215Thr) c.*134T>A (n.*134T>A) c.208T>A (p.Ser70Thr) c.625T>A (p.Ser209Thr) c.637T>A (p.Ser213Thr) c.351T>A n.637T>A n.879T>A n.608T>A c.772T>A (p.Ser258Thr) c.487T>A (p.Ser163Thr) n.134A>T c.883T>A (p.Ser295Thr) | |
6 | g.10404636A>C | CA362701545 | TFAP2A,TFAP2A-AS2 | c.618T>G (p.Cys206Trp) c.642T>G (p.Cys214Trp) c.*133T>G (n.*133T>G) c.207T>G (p.Cys69Trp) c.624T>G (p.Cys208Trp) c.636T>G (p.Cys212Trp) c.350T>G n.636T>G n.878T>G n.607T>G c.771T>G (p.Cys257Trp) c.486T>G (p.Cys162Trp) n.135A>C c.882T>G (p.Cys294Trp) | |
6 | g.10404636A>G | CA448717710 | TFAP2A,TFAP2A-AS2 | c.618T>C (p.Cys206=) c.642T>C (p.Cys214=) c.*133T>C (n.*133T>C) c.207T>C (p.Cys69=) c.624T>C (p.Cys208=) c.636T>C (p.Cys212=) c.350T>C n.636T>C n.878T>C n.607T>C c.771T>C (p.Cys257=) c.486T>C (p.Cys162=) n.135A>G c.882T>C (p.Cys294=) | |
6 | g.10404636A>T | CA362701547 | TFAP2A,TFAP2A-AS2 | c.618T>A (p.Cys206Ter) c.642T>A (p.Cys214Ter) c.*133T>A (n.*133T>A) c.207T>A (p.Cys69Ter) c.624T>A (p.Cys208Ter) c.636T>A (p.Cys212Ter) c.350T>A n.636T>A n.878T>A n.607T>A c.771T>A (p.Cys257Ter) c.486T>A (p.Cys162Ter) n.135A>T c.882T>A (p.Cys294Ter) | |
6 | g.10404637C>A | CA362701548 | TFAP2A,TFAP2A-AS2 | c.617G>T (p.Cys206Phe) c.641G>T (p.Cys214Phe) c.*132G>T (n.*132G>T) c.206G>T (p.Cys69Phe) c.623G>T (p.Cys208Phe) c.635G>T (p.Cys212Phe) c.349G>T n.635G>T n.877G>T n.606G>T c.770G>T (p.Cys257Phe) c.485G>T (p.Cys162Phe) n.136C>A c.881G>T (p.Cys294Phe) | |
6 | g.10404637C= | CA1609976775 | TFAP2A,TFAP2A-AS2 | c.617G= (p.Cys206=) c.641G= (p.Cys214=) c.*132G= (n.*132G=) c.206G= (p.Cys69=) c.623G= (p.Cys208=) c.635G= (p.Cys212=) c.349G= n.635G= n.877G= n.606G= c.770G= (p.Cys257=) c.485G= (p.Cys162=) n.136C= c.881G= (p.Cys294=) | |
6 | g.10404637C>G | CA134049179 | TFAP2A,TFAP2A-AS2 | c.617G>C (p.Cys206Ser) c.641G>C (p.Cys214Ser) c.*132G>C (n.*132G>C) c.206G>C (p.Cys69Ser) c.623G>C (p.Cys208Ser) c.635G>C (p.Cys212Ser) c.349G>C n.635G>C n.877G>C n.606G>C c.770G>C (p.Cys257Ser) c.485G>C (p.Cys162Ser) n.136C>G c.881G>C (p.Cys294Ser) | dbSNP |
6 | g.10404637C>T | CA362701552 | TFAP2A,TFAP2A-AS2 | c.617G>A (p.Cys206Tyr) c.641G>A (p.Cys214Tyr) c.*132G>A (n.*132G>A) c.206G>A (p.Cys69Tyr) c.623G>A (p.Cys208Tyr) c.635G>A (p.Cys212Tyr) c.349G>A n.635G>A n.877G>A n.606G>A c.770G>A (p.Cys257Tyr) c.485G>A (p.Cys162Tyr) n.136C>T c.881G>A (p.Cys294Tyr) | dbSNP gnomAD v4 |
6 | g.10404638A>C | CA362701558 | TFAP2A,TFAP2A-AS2 | c.616T>G (p.Cys206Gly) c.640T>G (p.Cys214Gly) c.*131T>G (n.*131T>G) c.205T>G (p.Cys69Gly) c.622T>G (p.Cys208Gly) c.634T>G (p.Cys212Gly) c.348T>G n.634T>G n.876T>G n.605T>G c.769T>G (p.Cys257Gly) c.484T>G (p.Cys162Gly) n.137A>C c.880T>G (p.Cys294Gly) | |
6 | g.10404638A>G | CA362701556 | TFAP2A,TFAP2A-AS2 | c.616T>C (p.Cys206Arg) c.640T>C (p.Cys214Arg) c.*131T>C (n.*131T>C) c.205T>C (p.Cys69Arg) c.622T>C (p.Cys208Arg) c.634T>C (p.Cys212Arg) c.348T>C n.634T>C n.876T>C n.605T>C c.769T>C (p.Cys257Arg) c.484T>C (p.Cys162Arg) n.137A>G c.880T>C (p.Cys294Arg) | |
6 | g.10404638A>T | CA362701555 | TFAP2A,TFAP2A-AS2 | c.616T>A (p.Cys206Ser) c.640T>A (p.Cys214Ser) c.*131T>A (n.*131T>A) c.205T>A (p.Cys69Ser) c.622T>A (p.Cys208Ser) c.634T>A (p.Cys212Ser) c.348T>A n.634T>A n.876T>A n.605T>A c.769T>A (p.Cys257Ser) c.484T>A (p.Cys162Ser) n.137A>T c.880T>A (p.Cys294Ser) | |
6 | g.10404639G>A | CA448717716 | TFAP2A,TFAP2A-AS2 | c.615C>T (p.Phe205=) c.639C>T (p.Phe213=) c.*130C>T (n.*130C>T) c.204C>T (p.Phe68=) c.621C>T (p.Phe207=) c.633C>T (p.Phe211=) c.347C>T n.633C>T n.875C>T n.604C>T c.768C>T (p.Phe256=) c.483C>T (p.Phe161=) n.138G>A c.879C>T (p.Phe293=) | |
6 | g.10404639G>C | CA362701560 | TFAP2A,TFAP2A-AS2 | c.615C>G (p.Phe205Leu) c.639C>G (p.Phe213Leu) c.*130C>G (n.*130C>G) c.204C>G (p.Phe68Leu) c.621C>G (p.Phe207Leu) c.633C>G (p.Phe211Leu) c.347C>G n.633C>G n.875C>G n.604C>G c.768C>G (p.Phe256Leu) c.483C>G (p.Phe161Leu) n.138G>C c.879C>G (p.Phe293Leu) | ClinVar |
6 | g.10404639G>T | CA362701561 | TFAP2A,TFAP2A-AS2 | c.615C>A (p.Phe205Leu) c.639C>A (p.Phe213Leu) c.*130C>A (n.*130C>A) c.204C>A (p.Phe68Leu) c.621C>A (p.Phe207Leu) c.633C>A (p.Phe211Leu) c.347C>A n.633C>A n.875C>A n.604C>A c.768C>A (p.Phe256Leu) c.483C>A (p.Phe161Leu) n.138G>T c.879C>A (p.Phe293Leu) | |
6 | g.10404640A>C | CA362701563 | TFAP2A,TFAP2A-AS2 | c.614T>G (p.Phe205Cys) c.638T>G (p.Phe213Cys) c.*129T>G (n.*129T>G) c.203T>G (p.Phe68Cys) c.620T>G (p.Phe207Cys) c.632T>G (p.Phe211Cys) c.346T>G n.632T>G n.874T>G n.603T>G c.767T>G (p.Phe256Cys) c.482T>G (p.Phe161Cys) n.139A>C c.878T>G (p.Phe293Cys) | |
6 | g.10404640A>G | CA362701565 | TFAP2A,TFAP2A-AS2 | c.614T>C (p.Phe205Ser) c.638T>C (p.Phe213Ser) c.*129T>C (n.*129T>C) c.203T>C (p.Phe68Ser) c.620T>C (p.Phe207Ser) c.632T>C (p.Phe211Ser) c.346T>C n.632T>C n.874T>C n.603T>C c.767T>C (p.Phe256Ser) c.482T>C (p.Phe161Ser) n.139A>G c.878T>C (p.Phe293Ser) | |
6 | g.10404640A>T | CA362701566 | TFAP2A,TFAP2A-AS2 | c.614T>A (p.Phe205Tyr) c.638T>A (p.Phe213Tyr) c.*129T>A (n.*129T>A) c.203T>A (p.Phe68Tyr) c.620T>A (p.Phe207Tyr) c.632T>A (p.Phe211Tyr) c.346T>A n.632T>A n.874T>A n.603T>A c.767T>A (p.Phe256Tyr) c.482T>A (p.Phe161Tyr) n.139A>T c.878T>A (p.Phe293Tyr) | |
6 | g.10404641A>C | CA362701568 | TFAP2A,TFAP2A-AS2 | c.613T>G (p.Phe205Val) c.637T>G (p.Phe213Val) c.*128T>G (n.*128T>G) c.202T>G (p.Phe68Val) c.619T>G (p.Phe207Val) c.631T>G (p.Phe211Val) c.345T>G n.631T>G n.873T>G n.602T>G c.766T>G (p.Phe256Val) c.481T>G (p.Phe161Val) n.140A>C c.877T>G (p.Phe293Val) | |
6 | g.10404641A>G | CA362701570 | TFAP2A,TFAP2A-AS2 | c.613T>C (p.Phe205Leu) c.637T>C (p.Phe213Leu) c.*128T>C (n.*128T>C) c.202T>C (p.Phe68Leu) c.619T>C (p.Phe207Leu) c.631T>C (p.Phe211Leu) c.345T>C n.631T>C n.873T>C n.602T>C c.766T>C (p.Phe256Leu) c.481T>C (p.Phe161Leu) n.140A>G c.877T>C (p.Phe293Leu) | |
6 | g.10404641A>T | CA362701571 | TFAP2A,TFAP2A-AS2 | c.613T>A (p.Phe205Ile) c.637T>A (p.Phe213Ile) c.*128T>A (n.*128T>A) c.202T>A (p.Phe68Ile) c.619T>A (p.Phe207Ile) c.631T>A (p.Phe211Ile) c.345T>A n.631T>A n.873T>A n.602T>A c.766T>A (p.Phe256Ile) c.481T>A (p.Phe161Ile) n.140A>T c.877T>A (p.Phe293Ile) | |
6 | g.10404642G>A | CA448717721 | TFAP2A,TFAP2A-AS2 | c.612C>T (p.Val204=) c.636C>T (p.Val212=) c.*127C>T (n.*127C>T) c.201C>T (p.Val67=) c.618C>T (p.Val206=) c.630C>T (p.Val210=) c.344C>T n.630C>T n.872C>T n.601C>T c.765C>T (p.Val255=) c.480C>T (p.Val160=) n.141G>A c.876C>T (p.Val292=) | |
6 | g.10404642G>C | CA3631275 | TFAP2A,TFAP2A-AS2 | c.612C>G (p.Val204=) c.636C>G (p.Val212=) c.*127C>G (n.*127C>G) c.201C>G (p.Val67=) c.618C>G (p.Val206=) c.630C>G (p.Val210=) c.344C>G n.630C>G n.872C>G n.601C>G c.765C>G (p.Val255=) c.480C>G (p.Val160=) n.141G>C c.876C>G (p.Val292=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.10404642G= | CA1609976776 | TFAP2A,TFAP2A-AS2 | c.612C= (p.Val204=) c.636C= (p.Val212=) c.*127C= (n.*127C=) c.201C= (p.Val67=) c.618C= (p.Val206=) c.630C= (p.Val210=) c.344C= n.630C= n.872C= n.601C= c.765C= (p.Val255=) c.480C= (p.Val160=) n.141G= c.876C= (p.Val292=) | |
6 | g.10404642G>T | CA448717723 | TFAP2A,TFAP2A-AS2 | c.612C>A (p.Val204=) c.636C>A (p.Val212=) c.*127C>A (n.*127C>A) c.201C>A (p.Val67=) c.618C>A (p.Val206=) c.630C>A (p.Val210=) c.344C>A n.630C>A n.872C>A n.601C>A c.765C>A (p.Val255=) c.480C>A (p.Val160=) n.141G>T c.876C>A (p.Val292=) | COSMIC COSMIC |
6 | g.10404643A>C | CA362701574 | TFAP2A,TFAP2A-AS2 | c.611T>G (p.Val204Gly) c.635T>G (p.Val212Gly) c.*126T>G (n.*126T>G) c.200T>G (p.Val67Gly) c.617T>G (p.Val206Gly) c.629T>G (p.Val210Gly) c.343T>G n.629T>G n.871T>G n.600T>G c.764T>G (p.Val255Gly) c.479T>G (p.Val160Gly) n.142A>C c.875T>G (p.Val292Gly) | gnomAD v4 |
6 | g.10404643A>G | CA362701575 | TFAP2A,TFAP2A-AS2 | c.611T>C (p.Val204Ala) c.635T>C (p.Val212Ala) c.*126T>C (n.*126T>C) c.200T>C (p.Val67Ala) c.617T>C (p.Val206Ala) c.629T>C (p.Val210Ala) c.343T>C n.629T>C n.871T>C n.600T>C c.764T>C (p.Val255Ala) c.479T>C (p.Val160Ala) n.142A>G c.875T>C (p.Val292Ala) | |
6 | g.10404643A>T | CA362701577 | TFAP2A,TFAP2A-AS2 | c.611T>A (p.Val204Asp) c.635T>A (p.Val212Asp) c.*126T>A (n.*126T>A) c.200T>A (p.Val67Asp) c.617T>A (p.Val206Asp) c.629T>A (p.Val210Asp) c.343T>A n.629T>A n.871T>A n.600T>A c.764T>A (p.Val255Asp) c.479T>A (p.Val160Asp) n.142A>T c.875T>A (p.Val292Asp) | |
6 | g.10404644C>A | CA362701581 | TFAP2A,TFAP2A-AS2 | c.610G>T (p.Val204Phe) c.634G>T (p.Val212Phe) c.*125G>T (n.*125G>T) c.199G>T (p.Val67Phe) c.616G>T (p.Val206Phe) c.628G>T (p.Val210Phe) c.342G>T n.628G>T n.870G>T n.599G>T c.763G>T (p.Val255Phe) c.478G>T (p.Val160Phe) n.143C>A c.874G>T (p.Val292Phe) | |
6 | g.10404644C= | CA1609976777 | TFAP2A,TFAP2A-AS2 | c.610G= (p.Val204=) c.634G= (p.Val212=) c.*125G= (n.*125G=) c.199G= (p.Val67=) c.616G= (p.Val206=) c.628G= (p.Val210=) c.342G= n.628G= n.870G= n.599G= c.763G= (p.Val255=) c.478G= (p.Val160=) n.143C= c.874G= (p.Val292=) | |
6 | g.10404644C>G | CA3631276 | TFAP2A,TFAP2A-AS2 | c.610G>C (p.Val204Leu) c.634G>C (p.Val212Leu) c.*125G>C (n.*125G>C) c.199G>C (p.Val67Leu) c.616G>C (p.Val206Leu) c.628G>C (p.Val210Leu) c.342G>C n.628G>C n.870G>C n.599G>C c.763G>C (p.Val255Leu) c.478G>C (p.Val160Leu) n.143C>G c.874G>C (p.Val292Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.10404644C>T | CA362701579 | TFAP2A,TFAP2A-AS2 | c.610G>A (p.Val204Ile) c.634G>A (p.Val212Ile) c.*125G>A (n.*125G>A) c.199G>A (p.Val67Ile) c.616G>A (p.Val206Ile) c.628G>A (p.Val210Ile) c.342G>A n.628G>A n.870G>A n.599G>A c.763G>A (p.Val255Ile) c.478G>A (p.Val160Ile) n.143C>T c.874G>A (p.Val292Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404645T>A | CA362701583 | TFAP2A,TFAP2A-AS2 | c.609A>T (p.Glu203Asp) c.633A>T (p.Glu211Asp) c.*124A>T (n.*124A>T) c.198A>T (p.Glu66Asp) c.615A>T (p.Glu205Asp) c.627A>T (p.Glu209Asp) c.341A>T n.627A>T n.869A>T n.598A>T c.762A>T (p.Glu254Asp) c.477A>T (p.Glu159Asp) n.144T>A c.873A>T (p.Glu291Asp) | |
6 | g.10404645T>C | CA448717728 | TFAP2A,TFAP2A-AS2 | c.609A>G (p.Glu203=) c.633A>G (p.Glu211=) c.*124A>G (n.*124A>G) c.198A>G (p.Glu66=) c.615A>G (p.Glu205=) c.627A>G (p.Glu209=) c.341A>G n.627A>G n.869A>G n.598A>G c.762A>G (p.Glu254=) c.477A>G (p.Glu159=) n.144T>C c.873A>G (p.Glu291=) | dbSNP |
6 | g.10404645T>G | CA362701585 | TFAP2A,TFAP2A-AS2 | c.609A>C (p.Glu203Asp) c.633A>C (p.Glu211Asp) c.*124A>C (n.*124A>C) c.198A>C (p.Glu66Asp) c.615A>C (p.Glu205Asp) c.627A>C (p.Glu209Asp) c.341A>C n.627A>C n.869A>C n.598A>C c.762A>C (p.Glu254Asp) c.477A>C (p.Glu159Asp) n.144T>G c.873A>C (p.Glu291Asp) | |
6 | g.10404645T= | CA1609976778 | TFAP2A,TFAP2A-AS2 | c.609A= (p.Glu203=) c.633A= (p.Glu211=) c.*124A= (n.*124A=) c.198A= (p.Glu66=) c.615A= (p.Glu205=) c.627A= (p.Glu209=) c.341A= n.627A= n.869A= n.598A= c.762A= (p.Glu254=) c.477A= (p.Glu159=) n.144T= c.873A= (p.Glu291=) | |
6 | g.10404646T>A | CA362701587 | TFAP2A,TFAP2A-AS2 | c.608A>T (p.Glu203Val) c.632A>T (p.Glu211Val) c.*123A>T (n.*123A>T) c.197A>T (p.Glu66Val) c.614A>T (p.Glu205Val) c.626A>T (p.Glu209Val) c.340A>T n.626A>T n.868A>T n.597A>T c.761A>T (p.Glu254Val) c.476A>T (p.Glu159Val) n.145T>A c.872A>T (p.Glu291Val) | |
6 | g.10404646T>C | CA362701590 | TFAP2A,TFAP2A-AS2 | c.608A>G (p.Glu203Gly) c.632A>G (p.Glu211Gly) c.*123A>G (n.*123A>G) c.197A>G (p.Glu66Gly) c.614A>G (p.Glu205Gly) c.626A>G (p.Glu209Gly) c.340A>G n.626A>G n.868A>G n.597A>G c.761A>G (p.Glu254Gly) c.476A>G (p.Glu159Gly) n.145T>C c.872A>G (p.Glu291Gly) | |
6 | g.10404646T>G | CA362701589 | TFAP2A,TFAP2A-AS2 | c.608A>C (p.Glu203Ala) c.632A>C (p.Glu211Ala) c.*123A>C (n.*123A>C) c.197A>C (p.Glu66Ala) c.614A>C (p.Glu205Ala) c.626A>C (p.Glu209Ala) c.340A>C n.626A>C n.868A>C n.597A>C c.761A>C (p.Glu254Ala) c.476A>C (p.Glu159Ala) n.145T>G c.872A>C (p.Glu291Ala) | |
6 | g.10404647C>A | CA362701593 | TFAP2A,TFAP2A-AS2 | c.607G>T (p.Glu203Ter) c.631G>T (p.Glu211Ter) c.*122G>T (n.*122G>T) c.196G>T (p.Glu66Ter) c.613G>T (p.Glu205Ter) c.625G>T (p.Glu209Ter) c.339G>T n.625G>T n.867G>T n.596G>T c.760G>T (p.Glu254Ter) c.475G>T (p.Glu159Ter) n.146C>A c.871G>T (p.Glu291Ter) | |
6 | g.10404647C>G | CA362701596 | TFAP2A,TFAP2A-AS2 | c.607G>C (p.Glu203Gln) c.631G>C (p.Glu211Gln) c.*122G>C (n.*122G>C) c.196G>C (p.Glu66Gln) c.613G>C (p.Glu205Gln) c.625G>C (p.Glu209Gln) c.339G>C n.625G>C n.867G>C n.596G>C c.760G>C (p.Glu254Gln) c.475G>C (p.Glu159Gln) n.146C>G c.871G>C (p.Glu291Gln) | |
6 | g.10404647C>T | CA362701595 | TFAP2A,TFAP2A-AS2 | c.607G>A (p.Glu203Lys) c.631G>A (p.Glu211Lys) c.*122G>A (n.*122G>A) c.196G>A (p.Glu66Lys) c.613G>A (p.Glu205Lys) c.625G>A (p.Glu209Lys) c.339G>A n.625G>A n.867G>A n.596G>A c.760G>A (p.Glu254Lys) c.475G>A (p.Glu159Lys) n.146C>T c.871G>A (p.Glu291Lys) | COSMIC COSMIC COSMIC |
6 | g.10404648G>A | CA448717743 | TFAP2A,TFAP2A-AS2 | c.606C>T (p.Asn202=) c.630C>T (p.Asn210=) c.*121C>T (n.*121C>T) c.195C>T (p.Asn65=) c.612C>T (p.Asn204=) c.624C>T (p.Asn208=) c.338C>T n.624C>T n.866C>T n.595C>T c.759C>T (p.Asn253=) c.474C>T (p.Asn158=) n.147G>A c.870C>T (p.Asn290=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404648G>C | CA362701599 | TFAP2A,TFAP2A-AS2 | c.606C>G (p.Asn202Lys) c.630C>G (p.Asn210Lys) c.*121C>G (n.*121C>G) c.195C>G (p.Asn65Lys) c.612C>G (p.Asn204Lys) c.624C>G (p.Asn208Lys) c.338C>G n.624C>G n.866C>G n.595C>G c.759C>G (p.Asn253Lys) c.474C>G (p.Asn158Lys) n.147G>C c.870C>G (p.Asn290Lys) | gnomAD v4 |
6 | g.10404648G= | CA1609976779 | TFAP2A,TFAP2A-AS2 | c.606C= (p.Asn202=) c.630C= (p.Asn210=) c.*121C= (n.*121C=) c.195C= (p.Asn65=) c.612C= (p.Asn204=) c.624C= (p.Asn208=) c.338C= n.624C= n.866C= n.595C= c.759C= (p.Asn253=) c.474C= (p.Asn158=) n.147G= c.870C= (p.Asn290=) | |
6 | g.10404648G>T | CA362701601 | TFAP2A,TFAP2A-AS2 | c.606C>A (p.Asn202Lys) c.630C>A (p.Asn210Lys) c.*121C>A (n.*121C>A) c.195C>A (p.Asn65Lys) c.612C>A (p.Asn204Lys) c.624C>A (p.Asn208Lys) c.338C>A n.624C>A n.866C>A n.595C>A c.759C>A (p.Asn253Lys) c.474C>A (p.Asn158Lys) n.147G>T c.870C>A (p.Asn290Lys) | |
6 | g.10404649T>A | CA362701603 | TFAP2A,TFAP2A-AS2 | c.605A>T (p.Asn202Ile) c.629A>T (p.Asn210Ile) c.*120A>T (n.*120A>T) c.194A>T (p.Asn65Ile) c.611A>T (p.Asn204Ile) c.623A>T (p.Asn208Ile) c.337A>T n.623A>T n.865A>T n.594A>T c.758A>T (p.Asn253Ile) c.473A>T (p.Asn158Ile) n.148T>A c.869A>T (p.Asn290Ile) | |
6 | g.10404649T>C | CA3631277 | TFAP2A,TFAP2A-AS2 | c.605A>G (p.Asn202Ser) c.629A>G (p.Asn210Ser) c.*120A>G (n.*120A>G) c.194A>G (p.Asn65Ser) c.611A>G (p.Asn204Ser) c.623A>G (p.Asn208Ser) c.337A>G n.623A>G n.865A>G n.594A>G c.758A>G (p.Asn253Ser) c.473A>G (p.Asn158Ser) n.148T>C c.869A>G (p.Asn290Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.10404649T>G | CA134049192 | TFAP2A,TFAP2A-AS2 | c.605A>C (p.Asn202Thr) c.629A>C (p.Asn210Thr) c.*120A>C (n.*120A>C) c.194A>C (p.Asn65Thr) c.611A>C (p.Asn204Thr) c.623A>C (p.Asn208Thr) c.337A>C n.623A>C n.865A>C n.594A>C c.758A>C (p.Asn253Thr) c.473A>C (p.Asn158Thr) n.148T>G c.869A>C (p.Asn290Thr) | dbSNP |
6 | g.10404649T= | CA1609976780 | TFAP2A,TFAP2A-AS2 | c.605A= (p.Asn202=) c.629A= (p.Asn210=) c.*120A= (n.*120A=) c.194A= (p.Asn65=) c.611A= (p.Asn204=) c.623A= (p.Asn208=) c.337A= n.623A= n.865A= n.594A= c.758A= (p.Asn253=) c.473A= (p.Asn158=) n.148T= c.869A= (p.Asn290=) | |
6 | g.10404650T>A | CA362701606 | TFAP2A,TFAP2A-AS2 | c.604A>T (p.Asn202Tyr) c.628A>T (p.Asn210Tyr) c.*119A>T (n.*119A>T) c.193A>T (p.Asn65Tyr) c.610A>T (p.Asn204Tyr) c.622A>T (p.Asn208Tyr) c.336A>T n.622A>T n.864A>T n.593A>T c.757A>T (p.Asn253Tyr) c.472A>T (p.Asn158Tyr) n.149T>A c.868A>T (p.Asn290Tyr) | |
6 | g.10404650T>C | CA362701608 | TFAP2A,TFAP2A-AS2 | c.604A>G (p.Asn202Asp) c.628A>G (p.Asn210Asp) c.*119A>G (n.*119A>G) c.193A>G (p.Asn65Asp) c.610A>G (p.Asn204Asp) c.622A>G (p.Asn208Asp) c.336A>G n.622A>G n.864A>G n.593A>G c.757A>G (p.Asn253Asp) c.472A>G (p.Asn158Asp) n.149T>C c.868A>G (p.Asn290Asp) | |
6 | g.10404650T>G | CA362701610 | TFAP2A,TFAP2A-AS2 | c.604A>C (p.Asn202His) c.628A>C (p.Asn210His) c.*119A>C (n.*119A>C) c.193A>C (p.Asn65His) c.610A>C (p.Asn204His) c.622A>C (p.Asn208His) c.336A>C n.622A>C n.864A>C n.593A>C c.757A>C (p.Asn253His) c.472A>C (p.Asn158His) n.149T>G c.868A>C (p.Asn290His) | |
6 | g.10404651G>A | CA448717747 | TFAP2A,TFAP2A-AS2 | c.603C>T (p.Pro201=) c.627C>T (p.Pro209=) c.*118C>T (n.*118C>T) c.192C>T (p.Pro64=) c.609C>T (p.Pro203=) c.621C>T (p.Pro207=) c.335C>T n.621C>T n.863C>T n.592C>T c.756C>T (p.Pro252=) c.471C>T (p.Pro157=) n.150G>A c.867C>T (p.Pro289=) | |
6 | g.10404651G>C | CA448717748 | TFAP2A,TFAP2A-AS2 | c.603C>G (p.Pro201=) c.627C>G (p.Pro209=) c.*118C>G (n.*118C>G) c.192C>G (p.Pro64=) c.609C>G (p.Pro203=) c.621C>G (p.Pro207=) c.335C>G n.621C>G n.863C>G n.592C>G c.756C>G (p.Pro252=) c.471C>G (p.Pro157=) n.150G>C c.867C>G (p.Pro289=) | |
6 | g.10404651G>T | CA448717750 | TFAP2A,TFAP2A-AS2 | c.603C>A (p.Pro201=) c.627C>A (p.Pro209=) c.*118C>A (n.*118C>A) c.192C>A (p.Pro64=) c.609C>A (p.Pro203=) c.621C>A (p.Pro207=) c.335C>A n.621C>A n.863C>A n.592C>A c.756C>A (p.Pro252=) c.471C>A (p.Pro157=) n.150G>T c.867C>A (p.Pro289=) | |
6 | g.10404652G>A | CA362701612 | TFAP2A,TFAP2A-AS2 | c.602C>T (p.Pro201Leu) c.626C>T (p.Pro209Leu) c.*117C>T (n.*117C>T) c.191C>T (p.Pro64Leu) c.608C>T (p.Pro203Leu) c.620C>T (p.Pro207Leu) c.334C>T n.620C>T n.862C>T n.591C>T c.755C>T (p.Pro252Leu) c.470C>T (p.Pro157Leu) n.151G>A c.866C>T (p.Pro289Leu) | gnomAD v4 |
6 | g.10404652G>C | CA362701614 | TFAP2A,TFAP2A-AS2 | c.602C>G (p.Pro201Arg) c.626C>G (p.Pro209Arg) c.*117C>G (n.*117C>G) c.191C>G (p.Pro64Arg) c.608C>G (p.Pro203Arg) c.620C>G (p.Pro207Arg) c.334C>G n.620C>G n.862C>G n.591C>G c.755C>G (p.Pro252Arg) c.470C>G (p.Pro157Arg) n.151G>C c.866C>G (p.Pro289Arg) | COSMIC COSMIC COSMIC |
6 | g.10404652G>T | CA362701616 | TFAP2A,TFAP2A-AS2 | c.602C>A (p.Pro201His) c.626C>A (p.Pro209His) c.*117C>A (n.*117C>A) c.191C>A (p.Pro64His) c.608C>A (p.Pro203His) c.620C>A (p.Pro207His) c.334C>A n.620C>A n.862C>A n.591C>A c.755C>A (p.Pro252His) c.470C>A (p.Pro157His) n.151G>T c.866C>A (p.Pro289His) | |
6 | g.10404653G>A | CA362701618 | TFAP2A,TFAP2A-AS2 | c.601C>T (p.Pro201Ser) c.625C>T (p.Pro209Ser) c.*116C>T (n.*116C>T) c.190C>T (p.Pro64Ser) c.607C>T (p.Pro203Ser) c.619C>T (p.Pro207Ser) c.333C>T n.619C>T n.861C>T n.590C>T c.754C>T (p.Pro252Ser) c.469C>T (p.Pro157Ser) n.152G>A c.865C>T (p.Pro289Ser) | |
6 | g.10404653G>C | CA362701620 | TFAP2A,TFAP2A-AS2 | c.601C>G (p.Pro201Ala) c.625C>G (p.Pro209Ala) c.*116C>G (n.*116C>G) c.190C>G (p.Pro64Ala) c.607C>G (p.Pro203Ala) c.619C>G (p.Pro207Ala) c.333C>G n.619C>G n.861C>G n.590C>G c.754C>G (p.Pro252Ala) c.469C>G (p.Pro157Ala) n.152G>C c.865C>G (p.Pro289Ala) | |
6 | g.10404653G>T | CA362701625 | TFAP2A,TFAP2A-AS2 | c.601C>A (p.Pro201Thr) c.625C>A (p.Pro209Thr) c.*116C>A (n.*116C>A) c.190C>A (p.Pro64Thr) c.607C>A (p.Pro203Thr) c.619C>A (p.Pro207Thr) c.333C>A n.619C>A n.861C>A n.590C>A c.754C>A (p.Pro252Thr) c.469C>A (p.Pro157Thr) n.152G>T c.865C>A (p.Pro289Thr) | |
6 | g.10404654G>A | CA448717755 | TFAP2A,TFAP2A-AS2 | c.600C>T (p.Asn200=) c.624C>T (p.Asn208=) c.*115C>T (n.*115C>T) c.189C>T (p.Asn63=) c.606C>T (p.Asn202=) c.618C>T (p.Asn206=) c.332C>T n.618C>T n.860C>T n.589C>T c.753C>T (p.Asn251=) c.468C>T (p.Asn156=) n.153G>A c.864C>T (p.Asn288=) | |
6 | g.10404654G>C | CA362701629 | TFAP2A,TFAP2A-AS2 | c.600C>G (p.Asn200Lys) c.624C>G (p.Asn208Lys) c.*115C>G (n.*115C>G) c.189C>G (p.Asn63Lys) c.606C>G (p.Asn202Lys) c.618C>G (p.Asn206Lys) c.332C>G n.618C>G n.860C>G n.589C>G c.753C>G (p.Asn251Lys) c.468C>G (p.Asn156Lys) n.153G>C c.864C>G (p.Asn288Lys) | |
6 | g.10404654G>T | CA362701627 | TFAP2A,TFAP2A-AS2 | c.600C>A (p.Asn200Lys) c.624C>A (p.Asn208Lys) c.*115C>A (n.*115C>A) c.189C>A (p.Asn63Lys) c.606C>A (p.Asn202Lys) c.618C>A (p.Asn206Lys) c.332C>A n.618C>A n.860C>A n.589C>A c.753C>A (p.Asn251Lys) c.468C>A (p.Asn156Lys) n.153G>T c.864C>A (p.Asn288Lys) | |
6 | g.10404655T>A | CA362701631 | TFAP2A,TFAP2A-AS2 | c.599A>T (p.Asn200Ile) c.623A>T (p.Asn208Ile) c.*114A>T (n.*114A>T) c.188A>T (p.Asn63Ile) c.605A>T (p.Asn202Ile) c.617A>T (p.Asn206Ile) c.331A>T n.617A>T n.859A>T n.588A>T c.752A>T (p.Asn251Ile) c.467A>T (p.Asn156Ile) n.154T>A c.863A>T (p.Asn288Ile) | |
6 | g.10404655T>C | CA362701632 | TFAP2A,TFAP2A-AS2 | c.599A>G (p.Asn200Ser) c.623A>G (p.Asn208Ser) c.*114A>G (n.*114A>G) c.188A>G (p.Asn63Ser) c.605A>G (p.Asn202Ser) c.617A>G (p.Asn206Ser) c.331A>G n.617A>G n.859A>G n.588A>G c.752A>G (p.Asn251Ser) c.467A>G (p.Asn156Ser) n.154T>C c.863A>G (p.Asn288Ser) | gnomAD v4 |
6 | g.10404655T>G | CA362701634 | TFAP2A,TFAP2A-AS2 | c.599A>C (p.Asn200Thr) c.623A>C (p.Asn208Thr) c.*114A>C (n.*114A>C) c.188A>C (p.Asn63Thr) c.605A>C (p.Asn202Thr) c.617A>C (p.Asn206Thr) c.331A>C n.617A>C n.859A>C n.588A>C c.752A>C (p.Asn251Thr) c.467A>C (p.Asn156Thr) n.154T>G c.863A>C (p.Asn288Thr) | |
6 | g.10404656T>A | CA362701636 | TFAP2A,TFAP2A-AS2 | c.598A>T (p.Asn200Tyr) c.622A>T (p.Asn208Tyr) c.*113A>T (n.*113A>T) c.187A>T (p.Asn63Tyr) c.604A>T (p.Asn202Tyr) c.616A>T (p.Asn206Tyr) c.330A>T n.616A>T n.858A>T n.587A>T c.751A>T (p.Asn251Tyr) c.466A>T (p.Asn156Tyr) n.155T>A c.862A>T (p.Asn288Tyr) | |
6 | g.10404656T>C | CA362701638 | TFAP2A,TFAP2A-AS2 | c.598A>G (p.Asn200Asp) c.622A>G (p.Asn208Asp) c.*113A>G (n.*113A>G) c.187A>G (p.Asn63Asp) c.604A>G (p.Asn202Asp) c.616A>G (p.Asn206Asp) c.330A>G n.616A>G n.858A>G n.587A>G c.751A>G (p.Asn251Asp) c.466A>G (p.Asn156Asp) n.155T>C c.862A>G (p.Asn288Asp) | |
6 | g.10404656T>G | CA362701639 | TFAP2A,TFAP2A-AS2 | c.598A>C (p.Asn200His) c.622A>C (p.Asn208His) c.*113A>C (n.*113A>C) c.187A>C (p.Asn63His) c.604A>C (p.Asn202His) c.616A>C (p.Asn206His) c.330A>C n.616A>C n.858A>C n.587A>C c.751A>C (p.Asn251His) c.466A>C (p.Asn156His) n.155T>G c.862A>C (p.Asn288His) | |
6 | g.10404656_10404659delinsTCAC | CA1609976781 | TFAP2A,TFAP2A-AS2 | c.595_598delinsGTGA (p.Val199=) c.619_622delinsGTGA (p.Val207=) c.*110_*113delinsGTGA (n.*110_*113delinsGTGA) c.184_187delinsGTGA (p.Val62=) c.601_604delinsGTGA (p.Val201=) c.613_616delinsGTGA (p.Val205=) c.327_330delinsGTGA n.613_616delinsGTGA n.855_858delinsGTGA n.584_587delinsGTGA c.748_751delinsGTGA (p.Val250=) c.463_466delinsGTGA (p.Val155=) n.155_158delinsTCAC c.859_862delinsGTGA (p.Val287=) | |
6 | g.10404657C>A | CA448717761 | TFAP2A,TFAP2A-AS2 | c.597G>T (p.Val199=) c.621G>T (p.Val207=) c.*112G>T (n.*112G>T) c.186G>T (p.Val62=) c.603G>T (p.Val201=) c.615G>T (p.Val205=) c.329G>T n.615G>T n.857G>T n.586G>T c.750G>T (p.Val250=) c.465G>T (p.Val155=) n.156C>A c.861G>T (p.Val287=) | |
6 | g.10404657C= | CA1609976782 | TFAP2A,TFAP2A-AS2 | c.597G= (p.Val199=) c.621G= (p.Val207=) c.*112G= (n.*112G=) c.186G= (p.Val62=) c.603G= (p.Val201=) c.615G= (p.Val205=) c.329G= n.615G= n.857G= n.586G= c.750G= (p.Val250=) c.465G= (p.Val155=) n.156C= c.861G= (p.Val287=) | |
6 | g.10404657C>G | CA448717762 | TFAP2A,TFAP2A-AS2 | c.597G>C (p.Val199=) c.621G>C (p.Val207=) c.*112G>C (n.*112G>C) c.186G>C (p.Val62=) c.603G>C (p.Val201=) c.615G>C (p.Val205=) c.329G>C n.615G>C n.857G>C n.586G>C c.750G>C (p.Val250=) c.465G>C (p.Val155=) n.156C>G c.861G>C (p.Val287=) | |
6 | g.10404657C>T | CA448717764 | TFAP2A,TFAP2A-AS2 | c.597G>A (p.Val199=) c.621G>A (p.Val207=) c.*112G>A (n.*112G>A) c.186G>A (p.Val62=) c.603G>A (p.Val201=) c.615G>A (p.Val205=) c.329G>A n.615G>A n.857G>A n.586G>A c.750G>A (p.Val250=) c.465G>A (p.Val155=) n.156C>T c.861G>A (p.Val287=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.10404660_10404662del | CA565486578 | TFAP2A,TFAP2A-AS2 | c.595_597del (p.Val199del) c.619_621del (p.Val207del) c.*110_*112del (n.*110_*112del) c.184_186del (p.Val62del) c.601_603del (p.Val201del) c.613_615del (p.Val205del) c.327_329del n.613_615del n.855_857del n.584_586del c.748_750del (p.Val250del) c.463_465del (p.Val155del) n.159_161del c.859_861del (p.Val287del) | dbSNP gnomAD v2 |
6 | g.10404658A>C | CA362701640 | TFAP2A,TFAP2A-AS2 | c.596T>G (p.Val199Gly) c.620T>G (p.Val207Gly) c.*111T>G (n.*111T>G) c.185T>G (p.Val62Gly) c.602T>G (p.Val201Gly) c.614T>G (p.Val205Gly) c.328T>G n.614T>G n.856T>G n.585T>G c.749T>G (p.Val250Gly) c.464T>G (p.Val155Gly) n.157A>C c.860T>G (p.Val287Gly) | |
6 | g.10404658A>G | CA362701641 | TFAP2A,TFAP2A-AS2 | c.596T>C (p.Val199Ala) c.620T>C (p.Val207Ala) c.*111T>C (n.*111T>C) c.185T>C (p.Val62Ala) c.602T>C (p.Val201Ala) c.614T>C (p.Val205Ala) c.328T>C n.614T>C n.856T>C n.585T>C c.749T>C (p.Val250Ala) c.464T>C (p.Val155Ala) n.157A>G c.860T>C (p.Val287Ala) | gnomAD v4 |
6 | g.10404658A>T | CA362701642 | TFAP2A,TFAP2A-AS2 | c.596T>A (p.Val199Glu) c.620T>A (p.Val207Glu) c.*111T>A (n.*111T>A) c.185T>A (p.Val62Glu) c.602T>A (p.Val201Glu) c.614T>A (p.Val205Glu) c.328T>A n.614T>A n.856T>A n.585T>A c.749T>A (p.Val250Glu) c.464T>A (p.Val155Glu) n.157A>T c.860T>A (p.Val287Glu) | |
6 | g.10404659C>A | CA362701643 | TFAP2A,TFAP2A-AS2 | c.595G>T (p.Val199Leu) c.619G>T (p.Val207Leu) c.*110G>T (n.*110G>T) c.184G>T (p.Val62Leu) c.601G>T (p.Val201Leu) c.613G>T (p.Val205Leu) c.327G>T n.613G>T n.855G>T n.584G>T c.748G>T (p.Val250Leu) c.463G>T (p.Val155Leu) n.158C>A c.859G>T (p.Val287Leu) | |
6 | g.10404659C= | CA1609976783 | TFAP2A,TFAP2A-AS2 | c.595G= (p.Val199=) c.619G= (p.Val207=) c.*110G= (n.*110G=) c.184G= (p.Val62=) c.601G= (p.Val201=) c.613G= (p.Val205=) c.327G= n.613G= n.855G= n.584G= c.748G= (p.Val250=) c.463G= (p.Val155=) n.158C= c.859G= (p.Val287=) | |
6 | g.10404659C>G | CA362701644 | TFAP2A,TFAP2A-AS2 | c.595G>C (p.Val199Leu) c.619G>C (p.Val207Leu) c.*110G>C (n.*110G>C) c.184G>C (p.Val62Leu) c.601G>C (p.Val201Leu) c.613G>C (p.Val205Leu) c.327G>C n.613G>C n.855G>C n.584G>C c.748G>C (p.Val250Leu) c.463G>C (p.Val155Leu) n.158C>G c.859G>C (p.Val287Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.10404659C>T | CA362701646 | TFAP2A,TFAP2A-AS2 | c.595G>A (p.Val199Met) c.619G>A (p.Val207Met) c.*110G>A (n.*110G>A) c.184G>A (p.Val62Met) c.601G>A (p.Val201Met) c.613G>A (p.Val205Met) c.327G>A n.613G>A n.855G>A n.584G>A c.748G>A (p.Val250Met) c.463G>A (p.Val155Met) n.158C>T c.859G>A (p.Val287Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.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) |