Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.10404631A=CA1609976772TFAP2A,TFAP2A-AS2c.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=)
6g.10404631A>CCA362701524TFAP2A,TFAP2A-AS2c.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)
6g.10404631A>GCA362701526TFAP2A,TFAP2A-AS2c.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)
6g.10404631A>TCA004709TFAP2A,TFAP2A-AS2c.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
6g.10404632C>ACA362701529TFAP2A,TFAP2A-AS2c.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)
6g.10404632C=CA1609976773TFAP2A,TFAP2A-AS2c.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=)
6g.10404632C>GCA362701532TFAP2A,TFAP2A-AS2c.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)
6g.10404632C>TCA362701531TFAP2A,TFAP2A-AS2c.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
6g.10404633T>ACA448717706TFAP2A,TFAP2A-AS2c.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=)
6g.10404633T>CCA448717704TFAP2A,TFAP2A-AS2c.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=)
6g.10404633T>GCA448717703TFAP2A,TFAP2A-AS2c.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=)
6g.10404634G>ACA134049170TFAP2A,TFAP2A-AS2c.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
6g.10404634G>CCA362701536TFAP2A,TFAP2A-AS2c.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)
6g.10404634G=CA1609976774TFAP2A,TFAP2A-AS2c.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=)
6g.10404634G>TCA362701537TFAP2A,TFAP2A-AS2c.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)
6g.10404635A>CCA362701539TFAP2A,TFAP2A-AS2c.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)
6g.10404635A>GCA362701541TFAP2A,TFAP2A-AS2c.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)
6g.10404635A>TCA362701543TFAP2A,TFAP2A-AS2c.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)
6g.10404636A>CCA362701545TFAP2A,TFAP2A-AS2c.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)
6g.10404636A>GCA448717710TFAP2A,TFAP2A-AS2c.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=)
6g.10404636A>TCA362701547TFAP2A,TFAP2A-AS2c.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)
6g.10404637C>ACA362701548TFAP2A,TFAP2A-AS2c.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)
6g.10404637C=CA1609976775TFAP2A,TFAP2A-AS2c.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=)
6g.10404637C>GCA134049179TFAP2A,TFAP2A-AS2c.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
6g.10404637C>TCA362701552TFAP2A,TFAP2A-AS2c.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
6g.10404638A>CCA362701558TFAP2A,TFAP2A-AS2c.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)
6g.10404638A>GCA362701556TFAP2A,TFAP2A-AS2c.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)
6g.10404638A>TCA362701555TFAP2A,TFAP2A-AS2c.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)
6g.10404639G>ACA448717716TFAP2A,TFAP2A-AS2c.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=)
6g.10404639G>CCA362701560TFAP2A,TFAP2A-AS2c.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)
6g.10404639G>TCA362701561TFAP2A,TFAP2A-AS2c.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)
6g.10404640A>CCA362701563TFAP2A,TFAP2A-AS2c.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)
6g.10404640A>GCA362701565TFAP2A,TFAP2A-AS2c.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)
6g.10404640A>TCA362701566TFAP2A,TFAP2A-AS2c.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)
6g.10404641A>CCA362701568TFAP2A,TFAP2A-AS2c.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)
6g.10404641A>GCA362701570TFAP2A,TFAP2A-AS2c.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)
6g.10404641A>TCA362701571TFAP2A,TFAP2A-AS2c.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)
6g.10404642G>ACA448717721TFAP2A,TFAP2A-AS2c.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=)
6g.10404642G>CCA3631275TFAP2A,TFAP2A-AS2c.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
6g.10404642G=CA1609976776TFAP2A,TFAP2A-AS2c.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=)
6g.10404642G>TCA448717723TFAP2A,TFAP2A-AS2c.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
6g.10404643A>CCA362701574TFAP2A,TFAP2A-AS2c.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
6g.10404643A>GCA362701575TFAP2A,TFAP2A-AS2c.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)
6g.10404643A>TCA362701577TFAP2A,TFAP2A-AS2c.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)
6g.10404644C>ACA362701581TFAP2A,TFAP2A-AS2c.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)
6g.10404644C=CA1609976777TFAP2A,TFAP2A-AS2c.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=)
6g.10404644C>GCA3631276TFAP2A,TFAP2A-AS2c.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
6g.10404644C>TCA362701579TFAP2A,TFAP2A-AS2c.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
6g.10404645T>ACA362701583TFAP2A,TFAP2A-AS2c.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)
6g.10404645T>CCA448717728TFAP2A,TFAP2A-AS2c.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

Number of alleles fetched