Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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 |