Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.50818913C>ACA364409786TFAP2Bc.22C>A (p.Gln8Lys)
c.-12C>A (n.-12C>A)
c.114C>A (p.Thr38=)
c.78C>A (p.Thr26=)
6g.50818913C>GCA364409792TFAP2Bc.22C>G (p.Gln8Glu)
c.-12C>G (n.-12C>G)
c.114C>G (p.Thr38=)
c.78C>G (p.Thr26=)
 gnomAD v4
6g.50818913C>TCA364409789TFAP2Bc.22C>T (p.Gln8Ter)
c.-12C>T (n.-12C>T)
c.114C>T (p.Thr38=)
c.78C>T (p.Thr26=)
6g.50818914A>CCA364409795TFAP2Bc.23A>C (p.Gln8Pro)
c.-11A>C (n.-11A>C)
c.115A>C (p.Arg39=)
c.79A>C (p.Arg27=)
6g.50818914A>GCA364409798TFAP2Bc.23A>G (p.Gln8Arg)
c.-11A>G (n.-11A>G)
c.115A>G (p.Arg39Gly)
c.79A>G (p.Arg27Gly)
6g.50818914A>TCA364409803TFAP2Bc.23A>T (p.Gln8Leu)
c.-11A>T (n.-11A>T)
c.115A>T (p.Arg39Trp)
c.79A>T (p.Arg27Trp)
6g.50818915G>ACA450411593TFAP2Bc.24G>A (p.Gln8=)
c.-10G>A (n.-10G>A)
c.116G>A (p.Arg39Lys)
c.80G>A (p.Arg27Lys)
6g.50818915G>CCA364409806TFAP2Bc.24G>C (p.Gln8His)
c.-10G>C (n.-10G>C)
c.116G>C (p.Arg39Thr)
c.80G>C (p.Arg27Thr)
6g.50818915G>TCA364409811TFAP2Bc.24G>T (p.Gln8His)
c.-10G>T (n.-10G>T)
c.116G>T (p.Arg39Met)
c.80G>T (p.Arg27Met)
6g.50818916G>ACA364409816TFAP2Bc.25G>A (p.Ala9Thr)
c.-9G>A (n.-9G>A)
c.117G>A (p.Arg39=)
c.81G>A (p.Arg27=)
6g.50818916G>CCA364409820TFAP2Bc.25G>C (p.Ala9Pro)
c.-9G>C (n.-9G>C)
c.117G>C (p.Arg39Ser)
c.81G>C (p.Arg27Ser)
6g.50818916G>TCA364409821TFAP2Bc.25G>T (p.Ala9Ser)
c.-9G>T (n.-9G>T)
c.117G>T (p.Arg39Ser)
c.81G>T (p.Arg27Ser)
 gnomAD v4
6g.50818917C>ACA364409827TFAP2Bc.26C>A (p.Ala9Asp)
c.-8C>A (n.-8C>A)
c.118C>A (p.Leu40Met)
c.82C>A (p.Leu28Met)
6g.50818917C>GCA364409829TFAP2Bc.26C>G (p.Ala9Gly)
c.-8C>G (n.-8C>G)
c.118C>G (p.Leu40Val)
c.82C>G (p.Leu28Val)
6g.50818917C>TCA364409832TFAP2Bc.26C>T (p.Ala9Val)
c.-8C>T (n.-8C>T)
c.118C>T (p.Leu40=)
c.82C>T (p.Leu28=)
 gnomAD v4
6g.50818918T>ACA450411596TFAP2Bc.27T>A (p.Ala9=)
c.-7T>A (n.-7T>A)
c.119T>A (p.Leu40Gln)
c.83T>A (p.Leu28Gln)
6g.50818918T>CCA450411594TFAP2Bc.27T>C (p.Ala9=)
c.-7T>C (n.-7T>C)
c.119T>C (p.Leu40Pro)
c.83T>C (p.Leu28Pro)
 COSMIC
6g.50818918T>GCA450411595TFAP2Bc.27T>G (p.Ala9=)
c.-7T>G (n.-7T>G)
c.119T>G (p.Leu40Arg)
c.83T>G (p.Leu28Arg)
6g.50818919G>ACA3850248TFAP2Bc.28G>A (p.Ala10Thr)
c.-6G>A (n.-6G>A)
c.120G>A (p.Leu40=)
c.84G>A (p.Leu28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50818919G>CCA364409837TFAP2Bc.28G>C (p.Ala10Pro)
c.-6G>C (n.-6G>C)
c.120G>C (p.Leu40=)
c.84G>C (p.Leu28=)
6g.50818919G=CA1628063483TFAP2Bc.28G= (p.Ala10=)
c.-6G= (n.-6G=)
c.120G= (p.Leu40=)
c.84G= (p.Leu28=)
6g.50818919G>TCA364409839TFAP2Bc.28G>T (p.Ala10Ser)
c.-6G>T (n.-6G>T)
c.120G>T (p.Leu40=)
c.84G>T (p.Leu28=)
6g.50818920C>ACA138859464TFAP2Bc.29C>A (p.Ala10Asp)
c.-5C>A (n.-5C>A)
c.121C>A (p.Pro41Thr)
c.85C>A (p.Pro29Thr)
 dbSNP gnomAD v4
6g.50818920C=CA1628063484TFAP2Bc.29C= (p.Ala10=)
c.-5C= (n.-5C=)
c.121C= (p.Pro41=)
c.85C= (p.Pro29=)
6g.50818920C>GCA364409848TFAP2Bc.29C>G (p.Ala10Gly)
c.-5C>G (n.-5C>G)
c.121C>G (p.Pro41Ala)
c.85C>G (p.Pro29Ala)
6g.50818920C>TCA364409851TFAP2Bc.29C>T (p.Ala10Val)
c.-5C>T (n.-5C>T)
c.121C>T (p.Pro41Ser)
c.85C>T (p.Pro29Ser)
 gnomAD v4
6g.50818921C>ACA450411597TFAP2Bc.30C>A (p.Ala10=)
c.-4C>A (n.-4C>A)
c.122C>A (p.Pro41Gln)
c.86C>A (p.Pro29Gln)
6g.50818921C>GCA450411598TFAP2Bc.30C>G (p.Ala10=)
c.-4C>G (n.-4C>G)
c.122C>G (p.Pro41Arg)
c.86C>G (p.Pro29Arg)
6g.50818921C>TCA450411599TFAP2Bc.30C>T (p.Ala10=)
c.-4C>T (n.-4C>T)
c.122C>T (p.Pro41Leu)
c.86C>T (p.Pro29Leu)
 gnomAD v4
6g.50818924_50818926delCA2578644051TFAP2Bc.33_35del (p.Ile11del)
c.-1_2del (n.-1_2del)
c.125_127del (p.Ser42del)
c.89_91del (p.Ser30del)
6g.50818922A=CA1628063488TFAP2Bc.31A= (p.Ile11=)
c.-3A= (n.-3A=)
c.123A= (p.Pro41=)
c.87A= (p.Pro29=)
6g.50818922A>CCA364409856TFAP2Bc.31A>C (p.Ile11Leu)
c.-3A>C (n.-3A>C)
c.123A>C (p.Pro41=)
c.87A>C (p.Pro29=)
6g.50818922A>GCA364409859TFAP2Bc.31A>G (p.Ile11Val)
c.-3A>G (n.-3A>G)
c.123A>G (p.Pro41=)
c.87A>G (p.Pro29=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.50818922A>TCA364409861TFAP2Bc.31A>T (p.Ile11Phe)
c.-3A>T (n.-3A>T)
c.123A>T (p.Pro41=)
c.87A>T (p.Pro29=)
6g.50818923T>ACA364409867TFAP2Bc.32T>A (p.Ile11Asn)
c.-2T>A (n.-2T>A)
c.124T>A (p.Ser42Thr)
c.88T>A (p.Ser30Thr)
6g.50818923T>CCA364409869TFAP2Bc.32T>C (p.Ile11Thr)
c.-2T>C (n.-2T>C)
c.124T>C (p.Ser42Pro)
c.88T>C (p.Ser30Pro)
 gnomAD v4
6g.50818923T>GCA364409872TFAP2Bc.32T>G (p.Ile11Ser)
c.-2T>G (n.-2T>G)
c.124T>G (p.Ser42Ala)
c.88T>G (p.Ser30Ala)
6g.50818924C>ACA450411600TFAP2Bc.33C>A (p.Ile11=)
c.-1C>A (n.-1C>A)
c.125C>A (p.Ser42Ter)
c.89C>A (p.Ser30Ter)
 dbSNP
6g.50818924C>GCA364409876TFAP2Bc.33C>G (p.Ile11Met)
c.-1C>G (n.-1C>G)
c.125C>G (p.Ser42Ter)
c.89C>G (p.Ser30Ter)
6g.50818924C>TCA450411601TFAP2Bc.33C>T (p.Ile11=)
c.-1C>T (n.-1C>T)
c.125C>T (p.Ser42Leu)
c.89C>T (p.Ser30Leu)
6g.50818925A=CA1628063489TFAP2Bc.34A= (p.Met12=)
c.1A= (p.Met1=)
c.126A= (p.Ser42=)
c.90A= (p.Ser30=)
6g.50818925A>CCA364409883TFAP2Bc.34A>C (p.Met12Leu)
c.1A>C (p.Met1Leu)
c.126A>C (p.Ser42=)
c.90A>C (p.Ser30=)
6g.50818925A>GCA364409887TFAP2Bc.34A>G (p.Met12Val)
c.1A>G (p.Met1Val)
c.126A>G (p.Ser42=)
c.90A>G (p.Ser30=)
 dbSNP gnomAD v3 gnomAD v4
6g.50818925A>TCA364409881TFAP2Bc.34A>T (p.Met12Leu)
c.1A>T (p.Met1Leu)
c.126A>T (p.Ser42=)
c.90A>T (p.Ser30=)
6g.50818926T>ACA364409890TFAP2Bc.35T>A (p.Met12Lys)
c.2T>A (p.Met1Lys)
c.127T>A (p.Cys43Ser)
c.91T>A (p.Cys31Ser)
 dbSNP
6g.50818926T>CCA364409894TFAP2Bc.35T>C (p.Met12Thr)
c.2T>C (p.Met1Thr)
c.127T>C (p.Cys43Arg)
c.91T>C (p.Cys31Arg)
6g.50818926T>GCA364409896TFAP2Bc.35T>G (p.Met12Arg)
c.2T>G (p.Met1Arg)
c.127T>G (p.Cys43Gly)
c.91T>G (p.Cys31Gly)
6g.50818926T=CA1628063493TFAP2Bc.35T= (p.Met12=)
c.2T= (p.Met1=)
c.127T= (p.Cys43=)
c.91T= (p.Cys31=)
6g.50818927G>ACA364409899TFAP2Bc.36G>A (p.Met12Ile)
c.3G>A (p.Met1Ile)
c.128G>A (p.Cys43Tyr)
c.92G>A (p.Cys31Tyr)
6g.50818927G>CCA364409902TFAP2Bc.36G>C (p.Met12Ile)
c.3G>C (p.Met1Ile)
c.128G>C (p.Cys43Ser)
c.92G>C (p.Cys31Ser)
6g.50818927G>TCA364409906TFAP2Bc.36G>T (p.Met12Ile)
c.3G>T (p.Met1Ile)
c.128G>T (p.Cys43Phe)
c.92G>T (p.Cys31Phe)
6g.50818928C>ACA364409911TFAP2Bc.37C>A (p.Leu13Ile)
c.4C>A (p.Leu2Ile)
c.129C>A (p.Cys43Ter)
c.93C>A (p.Cys31Ter)
6g.50818928C>GCA364409912TFAP2Bc.37C>G (p.Leu13Val)
c.4C>G (p.Leu2Val)
c.129C>G (p.Cys43Trp)
c.93C>G (p.Cys31Trp)
6g.50818928C>TCA364409913TFAP2Bc.37C>T (p.Leu13Phe)
c.4C>T (p.Leu2Phe)
c.129C>T (p.Cys43=)
c.93C>T (p.Cys31=)
6g.50818929T>ACA364409916TFAP2Bc.38T>A (p.Leu13His)
c.5T>A (p.Leu2His)
c.130T>A (p.Ser44Thr)
c.94T>A (p.Ser32Thr)
6g.50818929T>CCA364409919TFAP2Bc.38T>C (p.Leu13Pro)
c.5T>C (p.Leu2Pro)
c.130T>C (p.Ser44Pro)
c.94T>C (p.Ser32Pro)
 gnomAD v4
6g.50818929T>GCA364409922TFAP2Bc.38T>G (p.Leu13Arg)
c.5T>G (p.Leu2Arg)
c.130T>G (p.Ser44Ala)
c.94T>G (p.Ser32Ala)
6g.50818930C>ACA450411602TFAP2Bc.39C>A (p.Leu13=)
c.6C>A (p.Leu2=)
c.131C>A (p.Ser44Tyr)
c.95C>A (p.Ser32Tyr)
6g.50818930C>GCA450411603TFAP2Bc.39C>G (p.Leu13=)
c.6C>G (p.Leu2=)
c.131C>G (p.Ser44Cys)
c.95C>G (p.Ser32Cys)
6g.50818930C>TCA450411604TFAP2Bc.39C>T (p.Leu13=)
c.6C>T (p.Leu2=)
c.131C>T (p.Ser44Phe)
c.95C>T (p.Ser32Phe)
 gnomAD v4
6g.50818931T>ACA364409927TFAP2Bc.40T>A (p.Trp14Arg)
c.7T>A (p.Trp3Arg)
c.132T>A (p.Ser44=)
c.96T>A (p.Ser32=)
 gnomAD v4 COSMIC
6g.50818931T>CCA364409930TFAP2Bc.40T>C (p.Trp14Arg)
c.7T>C (p.Trp3Arg)
c.132T>C (p.Ser44=)
c.96T>C (p.Ser32=)
6g.50818931T>GCA364409924TFAP2Bc.40T>G (p.Trp14Gly)
c.7T>G (p.Trp3Gly)
c.132T>G (p.Ser44=)
c.96T>G (p.Ser32=)
6g.50818932G>ACA364409935TFAP2Bc.41G>A (p.Trp14Ter)
c.8G>A (p.Trp3Ter)
c.133G>A (p.Gly45Arg)
c.97G>A (p.Gly33Arg)
 gnomAD v4
6g.50818932G>CCA364409938TFAP2Bc.41G>C (p.Trp14Ser)
c.8G>C (p.Trp3Ser)
c.133G>C (p.Gly45Arg)
c.97G>C (p.Gly33Arg)
6g.50818932G>TCA364409939TFAP2Bc.41G>T (p.Trp14Leu)
c.8G>T (p.Trp3Leu)
c.133G>T (p.Gly45Ter)
c.97G>T (p.Gly33Ter)
6g.50818933G>ACA364409943TFAP2Bc.42G>A (p.Trp14Ter)
c.9G>A (p.Trp3Ter)
c.134G>A (p.Gly45Glu)
c.98G>A (p.Gly33Glu)
6g.50818933G>CCA364409946TFAP2Bc.42G>C (p.Trp14Cys)
c.9G>C (p.Trp3Cys)
c.134G>C (p.Gly45Ala)
c.98G>C (p.Gly33Ala)
6g.50818933G>TCA364409949TFAP2Bc.42G>T (p.Trp14Cys)
c.9G>T (p.Trp3Cys)
c.134G>T (p.Gly45Val)
c.98G>T (p.Gly33Val)
 gnomAD v4
6g.50818934A>CCA364409954TFAP2Bc.43A>C (p.Lys15Gln)
c.10A>C (p.Lys4Gln)
c.135A>C (p.Gly45=)
c.99A>C (p.Gly33=)
6g.50818934A>GCA364409960TFAP2Bc.43A>G (p.Lys15Glu)
c.10A>G (p.Lys4Glu)
c.135A>G (p.Gly45=)
c.99A>G (p.Gly33=)
6g.50818934A>TCA364409957TFAP2Bc.43A>T (p.Lys15Ter)
c.10A>T (p.Lys4Ter)
c.135A>T (p.Gly45=)
c.99A>T (p.Gly33=)
6g.50818935A>CCA364409963TFAP2Bc.44A>C (p.Lys15Thr)
c.11A>C (p.Lys4Thr)
c.136A>C (p.Ser46Arg)
c.100A>C (p.Ser34Arg)
6g.50818935A>GCA364409967TFAP2Bc.44A>G (p.Lys15Arg)
c.11A>G (p.Lys4Arg)
c.136A>G (p.Ser46Gly)
c.100A>G (p.Ser34Gly)
6g.50818935A>TCA364409969TFAP2Bc.44A>T (p.Lys15Met)
c.11A>T (p.Lys4Met)
c.136A>T (p.Ser46Cys)
c.100A>T (p.Ser34Cys)
6g.50818936G>ACA450411606TFAP2Bc.45G>A (p.Lys15=)
c.12G>A (p.Lys4=)
c.137G>A (p.Ser46Asn)
c.101G>A (p.Ser34Asn)
6g.50818936G>CCA364409973TFAP2Bc.45G>C (p.Lys15Asn)
c.12G>C (p.Lys4Asn)
c.137G>C (p.Ser46Thr)
c.101G>C (p.Ser34Thr)
6g.50818936G>TCA364409976TFAP2Bc.45G>T (p.Lys15Asn)
c.12G>T (p.Lys4Asn)
c.137G>T (p.Ser46Ile)
c.101G>T (p.Ser34Ile)
6g.50818937C>ACA364409985TFAP2Bc.46C>A (p.Leu16Ile)
c.13C>A (p.Leu5Ile)
c.138C>A (p.Ser46Arg)
c.102C>A (p.Ser34Arg)
6g.50818937C>GCA364409988TFAP2Bc.46C>G (p.Leu16Val)
c.13C>G (p.Leu5Val)
c.138C>G (p.Ser46Arg)
c.102C>G (p.Ser34Arg)
6g.50818937C>TCA364409981TFAP2Bc.46C>T (p.Leu16Phe)
c.13C>T (p.Leu5Phe)
c.138C>T (p.Ser46=)
c.102C>T (p.Ser34=)
6g.50818938T>ACA364409998TFAP2Bc.47T>A (p.Leu16His)
c.14T>A (p.Leu5His)
c.139T>A (p.Leu47Met)
c.103T>A (p.Leu35Met)
6g.50818938T>CCA364409994TFAP2Bc.47T>C (p.Leu16Pro)
c.14T>C (p.Leu5Pro)
c.139T>C (p.Leu47=)
c.103T>C (p.Leu35=)
6g.50818938T>GCA364410002TFAP2Bc.47T>G (p.Leu16Arg)
c.14T>G (p.Leu5Arg)
c.139T>G (p.Leu47Val)
c.103T>G (p.Leu35Val)
6g.50818939T>ACA450411607TFAP2Bc.48T>A (p.Leu16=)
c.15T>A (p.Leu5=)
c.140T>A (p.Leu47Ter)
c.104T>A (p.Leu35Ter)
6g.50818939T>CCA450411608TFAP2Bc.48T>C (p.Leu16=)
c.15T>C (p.Leu5=)
c.140T>C (p.Leu47Ser)
c.104T>C (p.Leu35Ser)
 dbSNP
6g.50818939T>GCA3850249TFAP2Bc.48T>G (p.Leu16=)
c.15T>G (p.Leu5=)
c.140T>G (p.Leu47Trp)
c.104T>G (p.Leu35Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.50818939T=CA1628063496TFAP2Bc.48T= (p.Leu16=)
c.15T= (p.Leu5=)
c.140T= (p.Leu47=)
c.104T= (p.Leu35=)
6g.50818940G>ACA364410010TFAP2Bc.49G>A (p.Val17Met)
c.16G>A (p.Val6Met)
c.141G>A (p.Leu47=)
c.105G>A (p.Leu35=)
6g.50818940G>CCA364410014TFAP2Bc.49G>C (p.Val17Leu)
c.16G>C (p.Val6Leu)
c.141G>C (p.Leu47Phe)
c.105G>C (p.Leu35Phe)
6g.50818940G>TCA364410018TFAP2Bc.49G>T (p.Val17Leu)
c.16G>T (p.Val6Leu)
c.141G>T (p.Leu47Phe)
c.105G>T (p.Leu35Phe)
6g.50818941T>ACA364410022TFAP2Bc.50T>A (p.Val17Glu)
c.17T>A (p.Val6Glu)
c.142T>A (p.Trp48Arg)
c.106T>A (p.Trp36Arg)
6g.50818941T>CCA364410024TFAP2Bc.50T>C (p.Val17Ala)
c.17T>C (p.Val6Ala)
c.142T>C (p.Trp48Arg)
c.106T>C (p.Trp36Arg)
6g.50818941T>GCA364410027TFAP2Bc.50T>G (p.Val17Gly)
c.17T>G (p.Val6Gly)
c.142T>G (p.Trp48Gly)
c.106T>G (p.Trp36Gly)
6g.50818942G>ACA138859468TFAP2Bc.51G>A (p.Val17=)
c.18G>A (p.Val6=)
c.143G>A (p.Trp48Ter)
c.107G>A (p.Trp36Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.50818942G>CCA450411611TFAP2Bc.51G>C (p.Val17=)
c.18G>C (p.Val6=)
c.143G>C (p.Trp48Ser)
c.107G>C (p.Trp36Ser)
6g.50818942G=CA1628063497TFAP2Bc.51G= (p.Val17=)
c.18G= (p.Val6=)
c.143G= (p.Trp48=)
c.107G= (p.Trp36=)
6g.50818942G>TCA450411612TFAP2Bc.51G>T (p.Val17=)
c.18G>T (p.Val6=)
c.143G>T (p.Trp48Leu)
c.107G>T (p.Trp36Leu)
6g.50818943G>ACA364410031TFAP2Bc.52G>A (p.Glu18Lys)
c.19G>A (p.Glu7Lys)
c.144G>A (p.Trp48Ter)
c.108G>A (p.Trp36Ter)
6g.50818943G>CCA364410034TFAP2Bc.52G>C (p.Glu18Gln)
c.19G>C (p.Glu7Gln)
c.144G>C (p.Trp48Cys)
c.108G>C (p.Trp36Cys)
6g.50818943G>TCA364410037TFAP2Bc.52G>T (p.Glu18Ter)
c.19G>T (p.Glu7Ter)
c.144G>T (p.Trp48Cys)
c.108G>T (p.Trp36Cys)
6g.50818944A>CCA364410039TFAP2Bc.53A>C (p.Glu18Ala)
c.20A>C (p.Glu7Ala)
c.145A>C (p.Arg49=)
c.109A>C (p.Arg37=)
6g.50818944A>GCA364410043TFAP2Bc.53A>G (p.Glu18Gly)
c.20A>G (p.Glu7Gly)
c.145A>G (p.Arg49Gly)
c.109A>G (p.Arg37Gly)
6g.50818944A>TCA364410047TFAP2Bc.53A>T (p.Glu18Val)
c.20A>T (p.Glu7Val)
c.145A>T (p.Arg49Ter)
c.109A>T (p.Arg37Ter)
6g.50818945G>ACA450411614TFAP2Bc.54G>A (p.Glu18=)
c.21G>A (p.Glu7=)
c.146G>A (p.Arg49Lys)
c.110G>A (p.Arg37Lys)
6g.50818945G>CCA364410052TFAP2Bc.54G>C (p.Glu18Asp)
c.21G>C (p.Glu7Asp)
c.146G>C (p.Arg49Thr)
c.110G>C (p.Arg37Thr)
6g.50818945G>TCA364410054TFAP2Bc.54G>T (p.Glu18Asp)
c.21G>T (p.Glu7Asp)
c.146G>T (p.Arg49Ile)
c.110G>T (p.Arg37Ile)
 COSMIC
6g.50818946A>CCA364410059TFAP2Bc.55A>C (p.Asn19His)
c.22A>C (p.Asn8His)
c.147A>C (p.Arg49Ser)
c.111A>C (p.Arg37Ser)
6g.50818946A>GCA364410062TFAP2Bc.55A>G (p.Asn19Asp)
c.22A>G (p.Asn8Asp)
c.147A>G (p.Arg49=)
c.111A>G (p.Arg37=)
6g.50818946A>TCA364410063TFAP2Bc.55A>T (p.Asn19Tyr)
c.22A>T (p.Asn8Tyr)
c.147A>T (p.Arg49Ser)
c.111A>T (p.Arg37Ser)
6g.50818947A>CCA364410064TFAP2Bc.56A>C (p.Asn19Thr)
c.23A>C (p.Asn8Thr)
c.148A>C (p.Met50Leu)
c.112A>C (p.Met38Leu)
6g.50818947A>GCA364410065TFAP2Bc.56A>G (p.Asn19Ser)
c.23A>G (p.Asn8Ser)
c.148A>G (p.Met50Val)
c.112A>G (p.Met38Val)
6g.50818947A>TCA364410068TFAP2Bc.56A>T (p.Asn19Ile)
c.23A>T (p.Asn8Ile)
c.148A>T (p.Met50Leu)
c.112A>T (p.Met38Leu)
6g.50818948T>ACA364410070TFAP2Bc.57T>A (p.Asn19Lys)
c.24T>A (p.Asn8Lys)
c.149T>A (p.Met50Lys)
c.113T>A (p.Met38Lys)
6g.50818948T>CCA450411617TFAP2Bc.57T>C (p.Asn19=)
c.24T>C (p.Asn8=)
c.149T>C (p.Met50Thr)
c.113T>C (p.Met38Thr)
 gnomAD v4
6g.50818948T>GCA364410073TFAP2Bc.57T>G (p.Asn19Lys)
c.24T>G (p.Asn8Lys)
c.149T>G (p.Met50Arg)
c.113T>G (p.Met38Arg)
6g.50818949G>ACA364410077TFAP2Bc.58G>A (p.Val20Ile)
c.25G>A (p.Val9Ile)
c.150G>A (p.Met50Ile)
c.114G>A (p.Met38Ile)
 gnomAD v4
6g.50818949G>CCA364410079TFAP2Bc.58G>C (p.Val20Leu)
c.25G>C (p.Val9Leu)
c.150G>C (p.Met50Ile)
c.114G>C (p.Met38Ile)
6g.50818949G>TCA364410085TFAP2Bc.58G>T (p.Val20Phe)
c.25G>T (p.Val9Phe)
c.150G>T (p.Met50Ile)
c.114G>T (p.Met38Ile)
6g.50818950T>ACA3850250TFAP2Bc.59T>A (p.Val20Asp)
c.26T>A (p.Val9Asp)
c.151T>A (p.Ser51Thr)
c.115T>A (p.Ser39Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.50818950T>CCA364410096TFAP2Bc.59T>C (p.Val20Ala)
c.26T>C (p.Val9Ala)
c.151T>C (p.Ser51Pro)
c.115T>C (p.Ser39Pro)
6g.50818950T>GCA364410091TFAP2Bc.59T>G (p.Val20Gly)
c.26T>G (p.Val9Gly)
c.151T>G (p.Ser51Ala)
c.115T>G (p.Ser39Ala)
6g.50818950T=CA1628063499TFAP2Bc.59T= (p.Val20=)
c.26T= (p.Val9=)
c.151T= (p.Ser51=)
c.115T= (p.Ser39=)
6g.50818951C>ACA450411624TFAP2Bc.60C>A (p.Val20=)
c.27C>A (p.Val9=)
c.152C>A (p.Ser51Ter)
c.116C>A (p.Ser39Ter)
6g.50818951C>GCA450411625TFAP2Bc.60C>G (p.Val20=)
c.27C>G (p.Val9=)
c.152C>G (p.Ser51Ter)
c.116C>G (p.Ser39Ter)
 dbSNP
6g.50818951C>TCA450411626TFAP2Bc.60C>T (p.Val20=)
c.27C>T (p.Val9=)
c.152C>T (p.Ser51Leu)
c.116C>T (p.Ser39Leu)
6g.50818952A>CCA364410099TFAP2Bc.61A>C (p.Lys21Gln)
c.28A>C (p.Lys10Gln)
c.153A>C (p.Ser51=)
c.117A>C (p.Ser39=)
6g.50818952A>GCA364410103TFAP2Bc.61A>G (p.Lys21Glu)
c.28A>G (p.Lys10Glu)
c.153A>G (p.Ser51=)
c.117A>G (p.Ser39=)
6g.50818952A>TCA364410106TFAP2Bc.61A>T (p.Lys21Ter)
c.28A>T (p.Lys10Ter)
c.153A>T (p.Ser51=)
c.117A>T (p.Ser39=)
6g.50818953A>CCA364410112TFAP2Bc.62A>C (p.Lys21Thr)
c.29A>C (p.Lys10Thr)
c.154A>C (p.Ser52Arg)
c.118A>C (p.Ser40Arg)
6g.50818953A>GCA364410115TFAP2Bc.62A>G (p.Lys21Arg)
c.29A>G (p.Lys10Arg)
c.154A>G (p.Ser52Gly)
c.118A>G (p.Ser40Gly)
6g.50818953A>TCA364410120TFAP2Bc.62A>T (p.Lys21Met)
c.29A>T (p.Lys10Met)
c.154A>T (p.Ser52Cys)
c.118A>T (p.Ser40Cys)
6g.50818954G>ACA450411627TFAP2Bc.63G>A (p.Lys21=)
c.30G>A (p.Lys10=)
c.155G>A (p.Ser52Asn)
c.119G>A (p.Ser40Asn)
6g.50818954G>CCA364410126TFAP2Bc.63G>C (p.Lys21Asn)
c.30G>C (p.Lys10Asn)
c.155G>C (p.Ser52Thr)
c.119G>C (p.Ser40Thr)
6g.50818954G>TCA364410128TFAP2Bc.63G>T (p.Lys21Asn)
c.30G>T (p.Lys10Asn)
c.155G>T (p.Ser52Ile)
c.119G>T (p.Ser40Ile)
6g.50818955T>ACA364410132TFAP2Bc.64T>A (p.Tyr22Asn)
c.31T>A (p.Tyr11Asn)
c.156T>A (p.Ser52Arg)
c.120T>A (p.Ser40Arg)
6g.50818955T>CCA364410134TFAP2Bc.64T>C (p.Tyr22His)
c.31T>C (p.Tyr11His)
c.156T>C (p.Ser52=)
c.120T>C (p.Ser40=)
6g.50818955T>GCA364410138TFAP2Bc.64T>G (p.Tyr22Asp)
c.31T>G (p.Tyr11Asp)
c.156T>G (p.Ser52Arg)
c.120T>G (p.Ser40Arg)
6g.50818956A>CCA364410143TFAP2Bc.65A>C (p.Tyr22Ser)
c.32A>C (p.Tyr11Ser)
c.157A>C (p.Thr53Pro)
c.121A>C (p.Thr41Pro)
6g.50818956A>GCA364410147TFAP2Bc.65A>G (p.Tyr22Cys)
c.32A>G (p.Tyr11Cys)
c.157A>G (p.Thr53Ala)
c.121A>G (p.Thr41Ala)
6g.50818956A>TCA364410149TFAP2Bc.65A>T (p.Tyr22Phe)
c.32A>T (p.Tyr11Phe)
c.157A>T (p.Thr53Ser)
c.121A>T (p.Thr41Ser)
6g.50818957C>ACA364410152TFAP2Bc.66C>A (p.Tyr22Ter)
c.33C>A (p.Tyr11Ter)
c.158C>A (p.Thr53Lys)
c.122C>A (p.Thr41Lys)
6g.50818957C=CA1628063501TFAP2Bc.66C= (p.Tyr22=)
c.33C= (p.Tyr11=)
c.158C= (p.Thr53=)
c.122C= (p.Thr41=)
6g.50818957C>GCA364410155TFAP2Bc.66C>G (p.Tyr22Ter)
c.33C>G (p.Tyr11Ter)
c.158C>G (p.Thr53Arg)
c.122C>G (p.Thr41Arg)
 ClinVar
6g.50818957C>TCA450411628TFAP2Bc.66C>T (p.Tyr22=)
c.33C>T (p.Tyr11=)
c.158C>T (p.Thr53Met)
c.122C>T (p.Thr41Met)
 dbSNP gnomAD v2 gnomAD v4
6g.50818958G>ACA364410160TFAP2Bc.67G>A (p.Glu23Lys)
c.34G>A (p.Glu12Lys)
c.159G>A (p.Thr53=)
c.123G>A (p.Thr41=)
 dbSNP
6g.50818958G>CCA364410164TFAP2Bc.67G>C (p.Glu23Gln)
c.34G>C (p.Glu12Gln)
c.159G>C (p.Thr53=)
c.123G>C (p.Thr41=)
 COSMIC
6g.50818958G=CA1628063502TFAP2Bc.67G= (p.Glu23=)
c.34G= (p.Glu12=)
c.159G= (p.Thr53=)
c.123G= (p.Thr41=)
6g.50818958G>TCA364410170TFAP2Bc.67G>T (p.Glu23Ter)
c.34G>T (p.Glu12Ter)
c.159G>T (p.Thr53=)
c.123G>T (p.Thr41=)
6g.50818959A>CCA364410173TFAP2Bc.68A>C (p.Glu23Ala)
c.35A>C (p.Glu12Ala)
c.160A>C (p.Lys54Gln)
c.124A>C (p.Lys42Gln)
6g.50818959A>GCA364410176TFAP2Bc.68A>G (p.Glu23Gly)
c.35A>G (p.Glu12Gly)
c.160A>G (p.Lys54Glu)
c.124A>G (p.Lys42Glu)
 COSMIC
6g.50818959A>TCA364410180TFAP2Bc.68A>T (p.Glu23Val)
c.35A>T (p.Glu12Val)
c.160A>T (p.Lys54Ter)
c.124A>T (p.Lys42Ter)
6g.50818960A>CCA364410186TFAP2Bc.69A>C (p.Glu23Asp)
c.36A>C (p.Glu12Asp)
c.161A>C (p.Lys54Thr)
c.125A>C (p.Lys42Thr)
6g.50818960A>GCA450411630TFAP2Bc.69A>G (p.Glu23=)
c.36A>G (p.Glu12=)
c.161A>G (p.Lys54Arg)
c.125A>G (p.Lys42Arg)
6g.50818960A>TCA364410190TFAP2Bc.69A>T (p.Glu23Asp)
c.36A>T (p.Glu12Asp)
c.161A>T (p.Lys54Met)
c.125A>T (p.Lys42Met)
6g.50818961G>ACA364410194TFAP2Bc.70G>A (p.Asp24Asn)
c.37G>A (p.Asp13Asn)
c.162G>A (p.Lys54=)
c.126G>A (p.Lys42=)
6g.50818961G>CCA364410197TFAP2Bc.70G>C (p.Asp24His)
c.37G>C (p.Asp13His)
c.162G>C (p.Lys54Asn)
c.126G>C (p.Lys42Asn)
6g.50818961G>TCA364410200TFAP2Bc.70G>T (p.Asp24Tyr)
c.37G>T (p.Asp13Tyr)
c.162G>T (p.Lys54Asn)
c.126G>T (p.Lys42Asn)
6g.50818962A>CCA364410205TFAP2Bc.71A>C (p.Asp24Ala)
c.38A>C (p.Asp13Ala)
c.163A>C (p.Ile55Leu)
c.127A>C (p.Ile43Leu)
6g.50818962A>GCA364410207TFAP2Bc.71A>G (p.Asp24Gly)
c.38A>G (p.Asp13Gly)
c.163A>G (p.Ile55Val)
c.127A>G (p.Ile43Val)
6g.50818962A>TCA364410212TFAP2Bc.71A>T (p.Asp24Val)
c.38A>T (p.Asp13Val)
c.163A>T (p.Ile55Leu)
c.127A>T (p.Ile43Leu)
6g.50818963T>ACA364410217TFAP2Bc.72T>A (p.Asp24Glu)
c.39T>A (p.Asp13Glu)
c.164T>A (p.Ile55Lys)
c.128T>A (p.Ile43Lys)
6g.50818963T>CCA450411631TFAP2Bc.72T>C (p.Asp24=)
c.39T>C (p.Asp13=)
c.164T>C (p.Ile55Thr)
c.128T>C (p.Ile43Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.50818963T>GCA364410220TFAP2Bc.72T>G (p.Asp24Glu)
c.39T>G (p.Asp13Glu)
c.164T>G (p.Ile55Arg)
c.128T>G (p.Ile43Arg)
 dbSNP gnomAD v4
6g.50818963T=CA1628063505TFAP2Bc.72T= (p.Asp24=)
c.39T= (p.Asp13=)
c.164T= (p.Ile55=)
c.128T= (p.Ile43=)
6g.50818963_50818966delinsTATCCA1628063504TFAP2Bc.72_75delinsTATC (p.Asp24=)
c.39_42delinsTATC (p.Asp13=)
c.164_167delinsTATC (p.Ile55=)
c.128_131delinsTATC (p.Ile43=)
6g.50818964A>CCA364410225TFAP2Bc.73A>C (p.Ile25Leu)
c.40A>C (p.Ile14Leu)
c.165A>C (p.Ile55=)
c.129A>C (p.Ile43=)
6g.50818964A>GCA364410229TFAP2Bc.73A>G (p.Ile25Val)
c.40A>G (p.Ile14Val)
c.165A>G (p.Ile55Met)
c.129A>G (p.Ile43Met)
6g.50818964A>TCA364410231TFAP2Bc.73A>T (p.Ile25Phe)
c.40A>T (p.Ile14Phe)
c.165A>T (p.Ile55=)
c.129A>T (p.Ile43=)
6g.50818964_50818966delCA3850251TFAP2Bc.73_75del (p.Ile25del)
c.40_42del (p.Ile14del)
c.165_167del (p.Ser56del)
c.129_131del (p.Ser44del)
 dbSNP ExAC gnomAD v4
6g.50818965T>ACA364410232TFAP2Bc.74T>A (p.Ile25Asn)
c.41T>A (p.Ile14Asn)
c.166T>A (p.Ser56Thr)
c.130T>A (p.Ser44Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818965T>CCA364410234TFAP2Bc.74T>C (p.Ile25Thr)
c.41T>C (p.Ile14Thr)
c.166T>C (p.Ser56Pro)
c.130T>C (p.Ser44Pro)
 gnomAD v4
6g.50818965T>GCA364410236TFAP2Bc.74T>G (p.Ile25Ser)
c.41T>G (p.Ile14Ser)
c.166T>G (p.Ser56Ala)
c.130T>G (p.Ser44Ala)
6g.50818965T=CA1628063506TFAP2Bc.74T= (p.Ile25=)
c.41T= (p.Ile14=)
c.166T= (p.Ser56=)
c.130T= (p.Ser44=)
6g.50818966C>ACA450411632TFAP2Bc.75C>A (p.Ile25=)
c.42C>A (p.Ile14=)
c.167C>A (p.Ser56Tyr)
c.131C>A (p.Ser44Tyr)
6g.50818966C=CA1628063507TFAP2Bc.75C= (p.Ile25=)
c.42C= (p.Ile14=)
c.167C= (p.Ser56=)
c.131C= (p.Ser44=)
6g.50818966C>GCA138859472TFAP2Bc.75C>G (p.Ile25Met)
c.42C>G (p.Ile14Met)
c.167C>G (p.Ser56Cys)
c.131C>G (p.Ser44Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818966C>TCA138859473TFAP2Bc.75C>T (p.Ile25=)
c.42C>T (p.Ile14=)
c.167C>T (p.Ser56Phe)
c.131C>T (p.Ser44Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.50818967T>ACA364410242TFAP2Bc.76T>A (p.Tyr26Asn)
c.43T>A (p.Tyr15Asn)
c.168T>A (p.Ser56=)
c.132T>A (p.Ser44=)
6g.50818967T>CCA364410244TFAP2Bc.76T>C (p.Tyr26His)
c.43T>C (p.Tyr15His)
c.168T>C (p.Ser56=)
c.132T>C (p.Ser44=)
6g.50818967T>GCA364410247TFAP2Bc.76T>G (p.Tyr26Asp)
c.43T>G (p.Tyr15Asp)
c.168T>G (p.Ser56=)
c.132T>G (p.Ser44=)
6g.50818968A>CCA364410248TFAP2Bc.77A>C (p.Tyr26Ser)
c.44A>C (p.Tyr15Ser)
c.169A>C (p.Met57Leu)
c.133A>C (p.Met45Leu)
6g.50818968A>GCA364410249TFAP2Bc.77A>G (p.Tyr26Cys)
c.44A>G (p.Tyr15Cys)
c.169A>G (p.Met57Val)
c.133A>G (p.Met45Val)
 gnomAD v4
6g.50818968A>TCA364410252TFAP2Bc.77A>T (p.Tyr26Phe)
c.44A>T (p.Tyr15Phe)
c.169A>T (p.Met57Leu)
c.133A>T (p.Met45Leu)
6g.50818969T>ACA364410258TFAP2Bc.78T>A (p.Tyr26Ter)
c.45T>A (p.Tyr15Ter)
c.170T>A (p.Met57Lys)
c.134T>A (p.Met45Lys)
6g.50818969T>CCA3850252TFAP2Bc.78T>C (p.Tyr26=)
c.45T>C (p.Tyr15=)
c.170T>C (p.Met57Thr)
c.134T>C (p.Met45Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50818969T>GCA364410256TFAP2Bc.78T>G (p.Tyr26Ter)
c.45T>G (p.Tyr15Ter)
c.170T>G (p.Met57Arg)
c.134T>G (p.Met45Arg)
6g.50818969T=CA1628063509TFAP2Bc.78T= (p.Tyr26=)
c.45T= (p.Tyr15=)
c.170T= (p.Met57=)
c.134T= (p.Met45=)
6g.50818970G>ACA364410261TFAP2Bc.79G>A (p.Glu27Lys)
c.46G>A (p.Glu16Lys)
c.171G>A (p.Met57Ile)
c.135G>A (p.Met45Ile)
 gnomAD v4
6g.50818970G>CCA364410264TFAP2Bc.79G>C (p.Glu27Gln)
c.46G>C (p.Glu16Gln)
c.171G>C (p.Met57Ile)
c.135G>C (p.Met45Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818970G=CA1628063511TFAP2Bc.79G= (p.Glu27=)
c.46G= (p.Glu16=)
c.171G= (p.Met57=)
c.135G= (p.Met45=)
6g.50818970G>TCA364410266TFAP2Bc.79G>T (p.Glu27Ter)
c.46G>T (p.Glu16Ter)
c.171G>T (p.Met57Ile)
c.135G>T (p.Met45Ile)
6g.50818971A>CCA364410268TFAP2Bc.80A>C (p.Glu27Ala)
c.47A>C (p.Glu16Ala)
c.172A>C (p.Ser58Arg)
c.136A>C (p.Ser46Arg)
6g.50818971A>GCA364410270TFAP2Bc.80A>G (p.Glu27Gly)
c.47A>G (p.Glu16Gly)
c.172A>G (p.Ser58Gly)
c.136A>G (p.Ser46Gly)
 gnomAD v4
6g.50818971A>TCA364410272TFAP2Bc.80A>T (p.Glu27Val)
c.47A>T (p.Glu16Val)
c.172A>T (p.Ser58Cys)
c.136A>T (p.Ser46Cys)
6g.50818972G>ACA138859476TFAP2Bc.81G>A (p.Glu27=)
c.48G>A (p.Glu16=)
c.173G>A (p.Ser58Asn)
c.137G>A (p.Ser46Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818972G>CCA364410275TFAP2Bc.81G>C (p.Glu27Asp)
c.48G>C (p.Glu16Asp)
c.173G>C (p.Ser58Thr)
c.137G>C (p.Ser46Thr)
6g.50818972G=CA1628063515TFAP2Bc.81G= (p.Glu27=)
c.48G= (p.Glu16=)
c.173G= (p.Ser58=)
c.137G= (p.Ser46=)
6g.50818972G>TCA364410277TFAP2Bc.81G>T (p.Glu27Asp)
c.48G>T (p.Glu16Asp)
c.173G>T (p.Ser58Ile)
c.137G>T (p.Ser46Ile)
6g.50818973G>ACA364410280TFAP2Bc.81+1G>A (n.81+1G>A)
c.48+1G>A (n.48+1G>A)
c.173+1G>A (n.173+1G>A)
c.137+1G>A (n.137+1G>A)
6g.50818973G>CCA364410282TFAP2Bc.81+1G>C (n.81+1G>C)
c.48+1G>C (n.48+1G>C)
c.173+1G>C (n.173+1G>C)
c.137+1G>C (n.137+1G>C)
6g.50818973G>TCA364410284TFAP2Bc.81+1G>T (n.81+1G>T)
c.48+1G>T (n.48+1G>T)
c.173+1G>T (n.173+1G>T)
c.137+1G>T (n.137+1G>T)
6g.50818974T>ACA364410291TFAP2Bc.81+2T>A (n.81+2T>A)
c.48+2T>A (n.48+2T>A)
c.173+2T>A (n.173+2T>A)
c.137+2T>A (n.137+2T>A)
6g.50818974T>CCA364410289TFAP2Bc.81+2T>C (n.81+2T>C)
c.48+2T>C (n.48+2T>C)
c.173+2T>C (n.173+2T>C)
c.137+2T>C (n.137+2T>C)
6g.50818974T>GCA364410287TFAP2Bc.81+2T>G (n.81+2T>G)
c.48+2T>G (n.48+2T>G)
c.173+2T>G (n.173+2T>G)
c.137+2T>G (n.137+2T>G)
 gnomAD v4
6g.50818975G>CCA2679069781TFAP2Bc.81+3G>C (n.81+3G>C)
c.48+3G>C (n.48+3G>C)
c.173+3G>C (n.173+3G>C)
c.137+3G>C (n.137+3G>C)
 gnomAD v4
6g.50818978T>CCA3850253TFAP2Bc.81+6T>C (n.81+6T>C)
c.48+6T>C (n.48+6T>C)
c.173+6T>C (n.173+6T>C)
c.137+6T>C (n.137+6T>C)
 dbSNP ExAC gnomAD v2
6g.50818978T=CA1628063517TFAP2Bc.81+6T= (n.81+6T=)
c.48+6T= (n.48+6T=)
c.173+6T= (n.173+6T=)
c.137+6T= (n.137+6T=)
6g.50818979C=CA1628063520TFAP2Bc.81+7C= (n.81+7C=)
c.48+7C= (n.48+7C=)
c.173+7C= (n.173+7C=)
c.137+7C= (n.137+7C=)
6g.50818979C>TCA3850254TFAP2Bc.81+7C>T (n.81+7C>T)
c.48+7C>T (n.48+7C>T)
c.173+7C>T (n.173+7C>T)
c.137+7C>T (n.137+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.50818980G>ACA2578644052TFAP2Bc.81+8G>A (n.81+8G>A)
c.48+8G>A (n.48+8G>A)
c.173+8G>A (n.173+8G>A)
c.137+8G>A (n.137+8G>A)
6g.50818980G>TCA2578644053TFAP2Bc.81+8G>T (n.81+8G>T)
c.48+8G>T (n.48+8G>T)
c.173+8G>T (n.173+8G>T)
c.137+8G>T (n.137+8G>T)
 gnomAD v4
6g.50818981A=CA1628063523TFAP2Bc.81+9A= (n.81+9A=)
c.48+9A= (n.48+9A=)
c.173+9A= (n.173+9A=)
c.137+9A= (n.137+9A=)
6g.50818981A>GCA1088909470TFAP2Bc.81+9A>G (n.81+9A>G)
c.48+9A>G (n.48+9A>G)
c.173+9A>G (n.173+9A>G)
c.137+9A>G (n.137+9A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.50818983A>GCA2679069782TFAP2Bc.81+11A>G (n.81+11A>G)
c.48+11A>G (n.48+11A>G)
c.173+11A>G (n.173+11A>G)
c.137+11A>G (n.137+11A>G)
 gnomAD v4
6g.50818984C>ACA138859482TFAP2Bc.81+12C>A (n.81+12C>A)
c.48+12C>A (n.48+12C>A)
c.173+12C>A (n.173+12C>A)
c.137+12C>A (n.137+12C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818984C=CA1628063525TFAP2Bc.81+12C= (n.81+12C=)
c.48+12C= (n.48+12C=)
c.173+12C= (n.173+12C=)
c.137+12C= (n.137+12C=)
6g.50818984C>TCA825611925TFAP2Bc.81+12C>T (n.81+12C>T)
c.48+12C>T (n.48+12C>T)
c.173+12C>T (n.173+12C>T)
c.137+12C>T (n.137+12C>T)
 dbSNP gnomAD v4
6g.50818988delCA2578644054TFAP2Bc.81+16del (n.81+16del)
c.48+16del (n.48+16del)
c.173+16del (n.173+16del)
c.137+16del (n.137+16del)
 gnomAD v4
6g.50818985C>ACA2597064690TFAP2Bc.81+13C>A (n.81+13C>A)
c.48+13C>A (n.48+13C>A)
c.173+13C>A (n.173+13C>A)
c.137+13C>A (n.137+13C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.50818986C=CA1628063527TFAP2Bc.81+14C= (n.81+14C=)
c.48+14C= (n.48+14C=)
c.173+14C= (n.173+14C=)
c.137+14C= (n.137+14C=)
6g.50818986C>GCA3850255TFAP2Bc.81+14C>G (n.81+14C>G)
c.48+14C>G (n.48+14C>G)
c.173+14C>G (n.173+14C>G)
c.137+14C>G (n.137+14C>G)
 dbSNP ExAC gnomAD v2
6g.50818986_50819003delinsCCCAGATGCACCTTAGAGCA1628063529TFAP2Bc.81+14_81+31delinsCCCAGATGCACCTTAGAG (n.81+14_81+31delinsCCCAGATGCACCTTAGAG)
c.48+14_48+31delinsCCCAGATGCACCTTAGAG (n.48+14_48+31delinsCCCAGATGCACCTTAGAG)
c.173+14_173+31delinsCCCAGATGCACCTTAGAG (n.173+14_173+31delinsCCCAGATGCACCTTAGAG)
c.137+14_137+31delinsCCCAGATGCACCTTAGAG (n.137+14_137+31delinsCCCAGATGCACCTTAGAG)
6g.50818987C=CA1628063532TFAP2Bc.81+15C= (n.81+15C=)
c.48+15C= (n.48+15C=)
c.173+15C= (n.173+15C=)
c.137+15C= (n.137+15C=)
6g.50818987C>GCA3850256TFAP2Bc.81+15C>G (n.81+15C>G)
c.48+15C>G (n.48+15C>G)
c.173+15C>G (n.173+15C>G)
c.137+15C>G (n.137+15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.50818987C>TCA2679069783TFAP2Bc.81+15C>T (n.81+15C>T)
c.48+15C>T (n.48+15C>T)
c.173+15C>T (n.173+15C>T)
c.137+15C>T (n.137+15C>T)
 gnomAD v4
6g.50818988_50819004delCA1628063531TFAP2Bc.81+16_81+32del (n.81+16_81+32del)
c.48+16_48+32del (n.48+16_48+32del)
c.173+16_173+32del (n.173+16_173+32del)
c.137+16_137+32del (n.137+16_137+32del)
 dbSNP
6g.50818988C>ACA2578644055TFAP2Bc.81+16C>A (n.81+16C>A)
c.48+16C>A (n.48+16C>A)
c.173+16C>A (n.173+16C>A)
c.137+16C>A (n.137+16C>A)
6g.50818988C=CA1628063534TFAP2Bc.81+16C= (n.81+16C=)
c.48+16C= (n.48+16C=)
c.173+16C= (n.173+16C=)
c.137+16C= (n.137+16C=)
6g.50818988C>TCA3850257TFAP2Bc.81+16C>T (n.81+16C>T)
c.48+16C>T (n.48+16C>T)
c.173+16C>T (n.173+16C>T)
c.137+16C>T (n.137+16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.50818989A=CA1628063538TFAP2Bc.81+17A= (n.81+17A=)
c.48+17A= (n.48+17A=)
c.173+17A= (n.173+17A=)
c.137+17A= (n.137+17A=)
6g.50818989A>GCA567278114TFAP2Bc.81+17A>G (n.81+17A>G)
c.48+17A>G (n.48+17A>G)
c.173+17A>G (n.173+17A>G)
c.137+17A>G (n.137+17A>G)
 dbSNP gnomAD v2
6g.50818993G=CA1628063540TFAP2Bc.81+21G= (n.81+21G=)
c.48+21G= (n.48+21G=)
c.173+21G= (n.173+21G=)
c.137+21G= (n.137+21G=)
6g.50818993G>TCA567278115TFAP2Bc.81+21G>T (n.81+21G>T)
c.48+21G>T (n.48+21G>T)
c.173+21G>T (n.173+21G>T)
c.137+21G>T (n.137+21G>T)
 dbSNP gnomAD v2
6g.50818994C>ACA138859489TFAP2Bc.81+22C>A (n.81+22C>A)
c.48+22C>A (n.48+22C>A)
c.173+22C>A (n.173+22C>A)
c.137+22C>A (n.137+22C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818994C=CA1628063541TFAP2Bc.81+22C= (n.81+22C=)
c.48+22C= (n.48+22C=)
c.173+22C= (n.173+22C=)
c.137+22C= (n.137+22C=)
6g.50818994C>TCA1628063542TFAP2Bc.81+22C>T (n.81+22C>T)
c.48+22C>T (n.48+22C>T)
c.173+22C>T (n.173+22C>T)
c.137+22C>T (n.137+22C>T)
 dbSNP gnomAD v4
6g.50818995A=CA1628063543TFAP2Bc.81+23A= (n.81+23A=)
c.48+23A= (n.48+23A=)
c.173+23A= (n.173+23A=)
c.137+23A= (n.137+23A=)
6g.50818995A>CCA138859492TFAP2Bc.81+23A>C (n.81+23A>C)
c.48+23A>C (n.48+23A>C)
c.173+23A>C (n.173+23A>C)
c.137+23A>C (n.137+23A>C)
 dbSNP
6g.50818995A>GCA2578644056TFAP2Bc.81+23A>G (n.81+23A>G)
c.48+23A>G (n.48+23A>G)
c.173+23A>G (n.173+23A>G)
c.137+23A>G (n.137+23A>G)
 gnomAD v4
6g.50818996C>ACA1088909477TFAP2Bc.81+24C>A (n.81+24C>A)
c.48+24C>A (n.48+24C>A)
c.173+24C>A (n.173+24C>A)
c.137+24C>A (n.137+24C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.50818996C=CA1628063545TFAP2Bc.81+24C= (n.81+24C=)
c.48+24C= (n.48+24C=)
c.173+24C= (n.173+24C=)
c.137+24C= (n.137+24C=)
6g.50818996C>GCA567278116TFAP2Bc.81+24C>G (n.81+24C>G)
c.48+24C>G (n.48+24C>G)
c.173+24C>G (n.173+24C>G)
c.137+24C>G (n.137+24C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.50818996C>TCA3850258TFAP2Bc.81+24C>T (n.81+24C>T)
c.48+24C>T (n.48+24C>T)
c.173+24C>T (n.173+24C>T)
c.137+24C>T (n.137+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50818997C>ACA2679069784TFAP2Bc.81+25C>A (n.81+25C>A)
c.48+25C>A (n.48+25C>A)
c.173+25C>A (n.173+25C>A)
c.137+25C>A (n.137+25C>A)
 gnomAD v4
6g.50818999T>GCA3850259TFAP2Bc.81+27T>G (n.81+27T>G)
c.48+27T>G (n.48+27T>G)
c.173+27T>G (n.173+27T>G)
c.137+27T>G (n.137+27T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50818999T=CA1628063547TFAP2Bc.81+27T= (n.81+27T=)
c.48+27T= (n.48+27T=)
c.173+27T= (n.173+27T=)
c.137+27T= (n.137+27T=)
6g.50819000A>GCA2578644057TFAP2Bc.81+28A>G (n.81+28A>G)
c.48+28A>G (n.48+28A>G)
c.173+28A>G (n.173+28A>G)
c.137+28A>G (n.137+28A>G)
6g.50819001G>ACA2771023819TFAP2Bc.81+29G>A (n.81+29G>A)
c.48+29G>A (n.48+29G>A)
c.173+29G>A (n.173+29G>A)
c.137+29G>A (n.137+29G>A)
6g.50819001G>CCA3850260TFAP2Bc.81+29G>C (n.81+29G>C)
c.48+29G>C (n.48+29G>C)
c.173+29G>C (n.173+29G>C)
c.137+29G>C (n.137+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50819001G=CA1628063550TFAP2Bc.81+29G= (n.81+29G=)
c.48+29G= (n.48+29G=)
c.173+29G= (n.173+29G=)
c.137+29G= (n.137+29G=)
6g.50819003G>ACA3850261TFAP2Bc.81+31G>A (n.81+31G>A)
c.48+31G>A (n.48+31G>A)
c.173+31G>A (n.173+31G>A)
c.137+31G>A (n.137+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50819003G=CA1628063552TFAP2Bc.81+31G= (n.81+31G=)
c.48+31G= (n.48+31G=)
c.173+31G= (n.173+31G=)
c.137+31G= (n.137+31G=)
6g.50819004C>ACA2578644058TFAP2Bc.81+32C>A (n.81+32C>A)
c.48+32C>A (n.48+32C>A)
c.173+32C>A (n.173+32C>A)
c.137+32C>A (n.137+32C>A)
 gnomAD v4
6g.50819004C=CA1628063554TFAP2Bc.81+32C= (n.81+32C=)
c.48+32C= (n.48+32C=)
c.173+32C= (n.173+32C=)
c.137+32C= (n.137+32C=)
6g.50819004C>TCA3850262TFAP2Bc.81+32C>T (n.81+32C>T)
c.48+32C>T (n.48+32C>T)
c.173+32C>T (n.173+32C>T)
c.137+32C>T (n.137+32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50819009C>ACA2679069785TFAP2Bc.81+37C>A (n.81+37C>A)
c.48+37C>A (n.48+37C>A)
c.173+37C>A (n.173+37C>A)
c.137+37C>A (n.137+37C>A)
 gnomAD v4
6g.50819009C=CA1628063555TFAP2Bc.81+37C= (n.81+37C=)
c.48+37C= (n.48+37C=)
c.173+37C= (n.173+37C=)
c.137+37C= (n.137+37C=)
6g.50819009C>TCA567278122TFAP2Bc.81+37C>T (n.81+37C>T)
c.48+37C>T (n.48+37C>T)
c.173+37C>T (n.173+37C>T)
c.137+37C>T (n.137+37C>T)
 dbSNP gnomAD v2
6g.50819011G>CCA2679069786TFAP2Bc.81+39G>C (n.81+39G>C)
c.48+39G>C (n.48+39G>C)
c.173+39G>C (n.173+39G>C)
c.137+39G>C (n.137+39G>C)
 gnomAD v4
6g.50819012A=CA1628063556TFAP2Bc.81+40A= (n.81+40A=)
c.48+40A= (n.48+40A=)
c.173+40A= (n.173+40A=)
c.137+40A= (n.137+40A=)
6g.50819012A>GCA3850263TFAP2Bc.81+40A>G (n.81+40A>G)
c.48+40A>G (n.48+40A>G)
c.173+40A>G (n.173+40A>G)
c.137+40A>G (n.137+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.50819013T>ACA2578644059TFAP2Bc.81+41T>A (n.81+41T>A)
c.48+41T>A (n.48+41T>A)
c.173+41T>A (n.173+41T>A)
c.137+41T>A (n.137+41T>A)
 gnomAD v4
6g.50819013T>CCA3850264TFAP2Bc.81+41T>C (n.81+41T>C)
c.48+41T>C (n.48+41T>C)
c.173+41T>C (n.173+41T>C)
c.137+41T>C (n.137+41T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.50819013T>GCA2679069787TFAP2Bc.81+41T>G (n.81+41T>G)
c.48+41T>G (n.48+41T>G)
c.173+41T>G (n.173+41T>G)
c.137+41T>G (n.137+41T>G)
 gnomAD v4
6g.50819013T=CA1628063558TFAP2Bc.81+41T= (n.81+41T=)
c.48+41T= (n.48+41T=)
c.173+41T= (n.173+41T=)
c.137+41T= (n.137+41T=)

Number of alleles fetched