Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089525G>ACA5692914TCF7L2c.483+49399G>A (n.483+49399G>A)
c.552+49399G>A (n.552+49399G>A)
c.609G>A (p.Glu203=)
c.519G>A (p.Glu173=)
c.612G>A (p.Glu204=)
c.382-51659G>A (n.382-51659G>A)
c.294G>A (p.Glu98=)
c.681G>A (p.Glu227=)
c.678G>A (p.Glu226=)
c.222G>A (p.Glu74=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089525G>CCA378532859TCF7L2c.483+49399G>C (n.483+49399G>C)
c.552+49399G>C (n.552+49399G>C)
c.609G>C (p.Glu203Asp)
c.519G>C (p.Glu173Asp)
c.612G>C (p.Glu204Asp)
c.382-51659G>C (n.382-51659G>C)
c.294G>C (p.Glu98Asp)
c.681G>C (p.Glu227Asp)
c.678G>C (p.Glu226Asp)
c.222G>C (p.Glu74Asp)
10g.113089525G=CA1937197481TCF7L2c.483+49399G= (n.483+49399G=)
c.552+49399G= (n.552+49399G=)
c.609G= (p.Glu203=)
c.519G= (p.Glu173=)
c.612G= (p.Glu204=)
c.382-51659G= (n.382-51659G=)
c.294G= (p.Glu98=)
c.681G= (p.Glu227=)
c.678G= (p.Glu226=)
c.222G= (p.Glu74=)
10g.113089525G>TCA378532858TCF7L2c.483+49399G>T (n.483+49399G>T)
c.552+49399G>T (n.552+49399G>T)
c.609G>T (p.Glu203Asp)
c.519G>T (p.Glu173Asp)
c.612G>T (p.Glu204Asp)
c.382-51659G>T (n.382-51659G>T)
c.294G>T (p.Glu98Asp)
c.681G>T (p.Glu227Asp)
c.678G>T (p.Glu226Asp)
c.222G>T (p.Glu74Asp)
10g.113089526C>ACA378532860TCF7L2c.483+49400C>A (n.483+49400C>A)
c.552+49400C>A (n.552+49400C>A)
c.610C>A (p.Pro204Thr)
c.520C>A (p.Pro174Thr)
c.613C>A (p.Pro205Thr)
c.382-51658C>A (n.382-51658C>A)
c.295C>A (p.Pro99Thr)
c.682C>A (p.Pro228Thr)
c.679C>A (p.Pro227Thr)
c.223C>A (p.Pro75Thr)
10g.113089526C=CA1937197482TCF7L2c.483+49400C= (n.483+49400C=)
c.552+49400C= (n.552+49400C=)
c.610C= (p.Pro204=)
c.520C= (p.Pro174=)
c.613C= (p.Pro205=)
c.382-51658C= (n.382-51658C=)
c.295C= (p.Pro99=)
c.682C= (p.Pro228=)
c.679C= (p.Pro227=)
c.223C= (p.Pro75=)
10g.113089526C>GCA378532861TCF7L2c.483+49400C>G (n.483+49400C>G)
c.552+49400C>G (n.552+49400C>G)
c.610C>G (p.Pro204Ala)
c.520C>G (p.Pro174Ala)
c.613C>G (p.Pro205Ala)
c.382-51658C>G (n.382-51658C>G)
c.295C>G (p.Pro99Ala)
c.682C>G (p.Pro228Ala)
c.679C>G (p.Pro227Ala)
c.223C>G (p.Pro75Ala)
10g.113089526C>TCA378532862TCF7L2c.483+49400C>T (n.483+49400C>T)
c.552+49400C>T (n.552+49400C>T)
c.610C>T (p.Pro204Ser)
c.520C>T (p.Pro174Ser)
c.613C>T (p.Pro205Ser)
c.382-51658C>T (n.382-51658C>T)
c.295C>T (p.Pro99Ser)
c.682C>T (p.Pro228Ser)
c.679C>T (p.Pro227Ser)
c.223C>T (p.Pro75Ser)
dbSNP gnomAD v4
10g.113089527C>ACA378532863TCF7L2c.483+49401C>A (n.483+49401C>A)
c.552+49401C>A (n.552+49401C>A)
c.611C>A (p.Pro204His)
c.521C>A (p.Pro174His)
c.614C>A (p.Pro205His)
c.382-51657C>A (n.382-51657C>A)
c.296C>A (p.Pro99His)
c.683C>A (p.Pro228His)
c.680C>A (p.Pro227His)
c.224C>A (p.Pro75His)
10g.113089527C=CA1937197483TCF7L2c.483+49401C= (n.483+49401C=)
c.552+49401C= (n.552+49401C=)
c.611C= (p.Pro204=)
c.521C= (p.Pro174=)
c.614C= (p.Pro205=)
c.382-51657C= (n.382-51657C=)
c.296C= (p.Pro99=)
c.683C= (p.Pro228=)
c.680C= (p.Pro227=)
c.224C= (p.Pro75=)
10g.113089527C>GCA378532864TCF7L2c.483+49401C>G (n.483+49401C>G)
c.552+49401C>G (n.552+49401C>G)
c.611C>G (p.Pro204Arg)
c.521C>G (p.Pro174Arg)
c.614C>G (p.Pro205Arg)
c.382-51657C>G (n.382-51657C>G)
c.296C>G (p.Pro99Arg)
c.683C>G (p.Pro228Arg)
c.680C>G (p.Pro227Arg)
c.224C>G (p.Pro75Arg)
10g.113089527C>TCA214116537TCF7L2c.483+49401C>T (n.483+49401C>T)
c.552+49401C>T (n.552+49401C>T)
c.611C>T (p.Pro204Leu)
c.521C>T (p.Pro174Leu)
c.614C>T (p.Pro205Leu)
c.382-51657C>T (n.382-51657C>T)
c.296C>T (p.Pro99Leu)
c.683C>T (p.Pro228Leu)
c.680C>T (p.Pro227Leu)
c.224C>T (p.Pro75Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089529T>ACA378532865TCF7L2c.483+49403T>A (n.483+49403T>A)
c.552+49403T>A (n.552+49403T>A)
c.613T>A (p.Trp205Arg)
c.523T>A (p.Trp175Arg)
c.616T>A (p.Trp206Arg)
c.382-51655T>A (n.382-51655T>A)
c.298T>A (p.Trp100Arg)
c.685T>A (p.Trp229Arg)
c.682T>A (p.Trp228Arg)
c.226T>A (p.Trp76Arg)
10g.113089529T>CCA378532866TCF7L2c.483+49403T>C (n.483+49403T>C)
c.552+49403T>C (n.552+49403T>C)
c.613T>C (p.Trp205Arg)
c.523T>C (p.Trp175Arg)
c.616T>C (p.Trp206Arg)
c.382-51655T>C (n.382-51655T>C)
c.298T>C (p.Trp100Arg)
c.685T>C (p.Trp229Arg)
c.682T>C (p.Trp228Arg)
c.226T>C (p.Trp76Arg)
10g.113089529T>GCA378532867TCF7L2c.483+49403T>G (n.483+49403T>G)
c.552+49403T>G (n.552+49403T>G)
c.613T>G (p.Trp205Gly)
c.523T>G (p.Trp175Gly)
c.616T>G (p.Trp206Gly)
c.382-51655T>G (n.382-51655T>G)
c.298T>G (p.Trp100Gly)
c.685T>G (p.Trp229Gly)
c.682T>G (p.Trp228Gly)
c.226T>G (p.Trp76Gly)
10g.113089530G>ACA378532868TCF7L2c.483+49404G>A (n.483+49404G>A)
c.552+49404G>A (n.552+49404G>A)
c.614G>A (p.Trp205Ter)
c.524G>A (p.Trp175Ter)
c.617G>A (p.Trp206Ter)
c.382-51654G>A (n.382-51654G>A)
c.299G>A (p.Trp100Ter)
c.686G>A (p.Trp229Ter)
c.683G>A (p.Trp228Ter)
c.227G>A (p.Trp76Ter)
10g.113089530G>CCA378532869TCF7L2c.483+49404G>C (n.483+49404G>C)
c.552+49404G>C (n.552+49404G>C)
c.614G>C (p.Trp205Ser)
c.524G>C (p.Trp175Ser)
c.617G>C (p.Trp206Ser)
c.382-51654G>C (n.382-51654G>C)
c.299G>C (p.Trp100Ser)
c.686G>C (p.Trp229Ser)
c.683G>C (p.Trp228Ser)
c.227G>C (p.Trp76Ser)
10g.113089530G=CA1937197484TCF7L2c.483+49404G= (n.483+49404G=)
c.552+49404G= (n.552+49404G=)
c.614G= (p.Trp205=)
c.524G= (p.Trp175=)
c.617G= (p.Trp206=)
c.382-51654G= (n.382-51654G=)
c.299G= (p.Trp100=)
c.686G= (p.Trp229=)
c.683G= (p.Trp228=)
c.227G= (p.Trp76=)
10g.113089530G>TCA378532870TCF7L2c.483+49404G>T (n.483+49404G>T)
c.552+49404G>T (n.552+49404G>T)
c.614G>T (p.Trp205Leu)
c.524G>T (p.Trp175Leu)
c.617G>T (p.Trp206Leu)
c.382-51654G>T (n.382-51654G>T)
c.299G>T (p.Trp100Leu)
c.686G>T (p.Trp229Leu)
c.683G>T (p.Trp228Leu)
c.227G>T (p.Trp76Leu)
dbSNP gnomAD v2 gnomAD v4
10g.113089531G>ACA378532872TCF7L2c.483+49405G>A (n.483+49405G>A)
c.552+49405G>A (n.552+49405G>A)
c.615G>A (p.Trp205Ter)
c.525G>A (p.Trp175Ter)
c.618G>A (p.Trp206Ter)
c.382-51653G>A (n.382-51653G>A)
c.300G>A (p.Trp100Ter)
c.687G>A (p.Trp229Ter)
c.684G>A (p.Trp228Ter)
c.228G>A (p.Trp76Ter)
10g.113089531G>CCA378532873TCF7L2c.483+49405G>C (n.483+49405G>C)
c.552+49405G>C (n.552+49405G>C)
c.615G>C (p.Trp205Cys)
c.525G>C (p.Trp175Cys)
c.618G>C (p.Trp206Cys)
c.382-51653G>C (n.382-51653G>C)
c.300G>C (p.Trp100Cys)
c.687G>C (p.Trp229Cys)
c.684G>C (p.Trp228Cys)
c.228G>C (p.Trp76Cys)
dbSNP gnomAD v3 gnomAD v4
10g.113089531G=CA1937197485TCF7L2c.483+49405G= (n.483+49405G=)
c.552+49405G= (n.552+49405G=)
c.615G= (p.Trp205=)
c.525G= (p.Trp175=)
c.618G= (p.Trp206=)
c.382-51653G= (n.382-51653G=)
c.300G= (p.Trp100=)
c.687G= (p.Trp229=)
c.684G= (p.Trp228=)
c.228G= (p.Trp76=)
10g.113089531G>TCA378532871TCF7L2c.483+49405G>T (n.483+49405G>T)
c.552+49405G>T (n.552+49405G>T)
c.615G>T (p.Trp205Cys)
c.525G>T (p.Trp175Cys)
c.618G>T (p.Trp206Cys)
c.382-51653G>T (n.382-51653G>T)
c.300G>T (p.Trp100Cys)
c.687G>T (p.Trp229Cys)
c.684G>T (p.Trp228Cys)
c.228G>T (p.Trp76Cys)
10g.113089532T>ACA378532874TCF7L2c.483+49406T>A (n.483+49406T>A)
c.552+49406T>A (n.552+49406T>A)
c.616T>A (p.Cys206Ser)
c.526T>A (p.Cys176Ser)
c.619T>A (p.Cys207Ser)
c.382-51652T>A (n.382-51652T>A)
c.301T>A (p.Cys101Ser)
c.688T>A (p.Cys230Ser)
c.685T>A (p.Cys229Ser)
c.229T>A (p.Cys77Ser)
10g.113089532T>CCA378532876TCF7L2c.483+49406T>C (n.483+49406T>C)
c.552+49406T>C (n.552+49406T>C)
c.616T>C (p.Cys206Arg)
c.526T>C (p.Cys176Arg)
c.619T>C (p.Cys207Arg)
c.382-51652T>C (n.382-51652T>C)
c.301T>C (p.Cys101Arg)
c.688T>C (p.Cys230Arg)
c.685T>C (p.Cys229Arg)
c.229T>C (p.Cys77Arg)
dbSNP gnomAD v2 gnomAD v4
10g.113089532T>GCA378532875TCF7L2c.483+49406T>G (n.483+49406T>G)
c.552+49406T>G (n.552+49406T>G)
c.616T>G (p.Cys206Gly)
c.526T>G (p.Cys176Gly)
c.619T>G (p.Cys207Gly)
c.382-51652T>G (n.382-51652T>G)
c.301T>G (p.Cys101Gly)
c.688T>G (p.Cys230Gly)
c.685T>G (p.Cys229Gly)
c.229T>G (p.Cys77Gly)
10g.113089532T=CA1937197486TCF7L2c.483+49406T= (n.483+49406T=)
c.552+49406T= (n.552+49406T=)
c.616T= (p.Cys206=)
c.526T= (p.Cys176=)
c.619T= (p.Cys207=)
c.382-51652T= (n.382-51652T=)
c.301T= (p.Cys101=)
c.688T= (p.Cys230=)
c.685T= (p.Cys229=)
c.229T= (p.Cys77=)
10g.113089533G>ACA5692915TCF7L2c.483+49407G>A (n.483+49407G>A)
c.552+49407G>A (n.552+49407G>A)
c.617G>A (p.Cys206Tyr)
c.527G>A (p.Cys176Tyr)
c.620G>A (p.Cys207Tyr)
c.382-51651G>A (n.382-51651G>A)
c.302G>A (p.Cys101Tyr)
c.689G>A (p.Cys230Tyr)
c.686G>A (p.Cys229Tyr)
c.230G>A (p.Cys77Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089533G>CCA378532877TCF7L2c.483+49407G>C (n.483+49407G>C)
c.552+49407G>C (n.552+49407G>C)
c.617G>C (p.Cys206Ser)
c.527G>C (p.Cys176Ser)
c.620G>C (p.Cys207Ser)
c.382-51651G>C (n.382-51651G>C)
c.302G>C (p.Cys101Ser)
c.689G>C (p.Cys230Ser)
c.686G>C (p.Cys229Ser)
c.230G>C (p.Cys77Ser)
10g.113089533G=CA1937197487TCF7L2c.483+49407G= (n.483+49407G=)
c.552+49407G= (n.552+49407G=)
c.617G= (p.Cys206=)
c.527G= (p.Cys176=)
c.620G= (p.Cys207=)
c.382-51651G= (n.382-51651G=)
c.302G= (p.Cys101=)
c.689G= (p.Cys230=)
c.686G= (p.Cys229=)
c.230G= (p.Cys77=)
10g.113089533G>TCA378532878TCF7L2c.483+49407G>T (n.483+49407G>T)
c.552+49407G>T (n.552+49407G>T)
c.617G>T (p.Cys206Phe)
c.527G>T (p.Cys176Phe)
c.620G>T (p.Cys207Phe)
c.382-51651G>T (n.382-51651G>T)
c.302G>T (p.Cys101Phe)
c.689G>T (p.Cys230Phe)
c.686G>T (p.Cys229Phe)
c.230G>T (p.Cys77Phe)
10g.113089534T>ACA378532879TCF7L2c.483+49408T>A (n.483+49408T>A)
c.552+49408T>A (n.552+49408T>A)
c.618T>A (p.Cys206Ter)
c.528T>A (p.Cys176Ter)
c.621T>A (p.Cys207Ter)
c.382-51650T>A (n.382-51650T>A)
c.303T>A (p.Cys101Ter)
c.690T>A (p.Cys230Ter)
c.687T>A (p.Cys229Ter)
c.231T>A (p.Cys77Ter)
10g.113089534T>CCA471493206TCF7L2c.483+49408T>C (n.483+49408T>C)
c.552+49408T>C (n.552+49408T>C)
c.618T>C (p.Cys206=)
c.528T>C (p.Cys176=)
c.621T>C (p.Cys207=)
c.382-51650T>C (n.382-51650T>C)
c.303T>C (p.Cys101=)
c.690T>C (p.Cys230=)
c.687T>C (p.Cys229=)
c.231T>C (p.Cys77=)
gnomAD v4 COSMIC
10g.113089534T>GCA378532880TCF7L2c.483+49408T>G (n.483+49408T>G)
c.552+49408T>G (n.552+49408T>G)
c.618T>G (p.Cys206Trp)
c.528T>G (p.Cys176Trp)
c.621T>G (p.Cys207Trp)
c.382-51650T>G (n.382-51650T>G)
c.303T>G (p.Cys101Trp)
c.690T>G (p.Cys230Trp)
c.687T>G (p.Cys229Trp)
c.231T>G (p.Cys77Trp)
10g.113089535A=CA1937197488TCF7L2c.483+49409A= (n.483+49409A=)
c.552+49409A= (n.552+49409A=)
c.619A= (p.Ile207=)
c.529A= (p.Ile177=)
c.622A= (p.Ile208=)
c.382-51649A= (n.382-51649A=)
c.304A= (p.Ile102=)
c.691A= (p.Ile231=)
c.688A= (p.Ile230=)
c.232A= (p.Ile78=)
10g.113089535A>CCA378532881TCF7L2c.483+49409A>C (n.483+49409A>C)
c.552+49409A>C (n.552+49409A>C)
c.619A>C (p.Ile207Leu)
c.529A>C (p.Ile177Leu)
c.622A>C (p.Ile208Leu)
c.382-51649A>C (n.382-51649A>C)
c.304A>C (p.Ile102Leu)
c.691A>C (p.Ile231Leu)
c.688A>C (p.Ile230Leu)
c.232A>C (p.Ile78Leu)
10g.113089535A>GCA214116538TCF7L2c.483+49409A>G (n.483+49409A>G)
c.552+49409A>G (n.552+49409A>G)
c.619A>G (p.Ile207Val)
c.529A>G (p.Ile177Val)
c.622A>G (p.Ile208Val)
c.382-51649A>G (n.382-51649A>G)
c.304A>G (p.Ile102Val)
c.691A>G (p.Ile231Val)
c.688A>G (p.Ile230Val)
c.232A>G (p.Ile78Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.113089535A>TCA378532882TCF7L2c.483+49409A>T (n.483+49409A>T)
c.552+49409A>T (n.552+49409A>T)
c.619A>T (p.Ile207Phe)
c.529A>T (p.Ile177Phe)
c.622A>T (p.Ile208Phe)
c.382-51649A>T (n.382-51649A>T)
c.304A>T (p.Ile102Phe)
c.691A>T (p.Ile231Phe)
c.688A>T (p.Ile230Phe)
c.232A>T (p.Ile78Phe)
10g.113089536T>ACA378532883TCF7L2c.483+49410T>A (n.483+49410T>A)
c.552+49410T>A (n.552+49410T>A)
c.620T>A (p.Ile207Asn)
c.530T>A (p.Ile177Asn)
c.623T>A (p.Ile208Asn)
c.382-51648T>A (n.382-51648T>A)
c.305T>A (p.Ile102Asn)
c.692T>A (p.Ile231Asn)
c.689T>A (p.Ile230Asn)
c.233T>A (p.Ile78Asn)
10g.113089536T>CCA378532885TCF7L2c.483+49410T>C (n.483+49410T>C)
c.552+49410T>C (n.552+49410T>C)
c.620T>C (p.Ile207Thr)
c.530T>C (p.Ile177Thr)
c.623T>C (p.Ile208Thr)
c.382-51648T>C (n.382-51648T>C)
c.305T>C (p.Ile102Thr)
c.692T>C (p.Ile231Thr)
c.689T>C (p.Ile230Thr)
c.233T>C (p.Ile78Thr)
gnomAD v4
10g.113089536T>GCA378532886TCF7L2c.483+49410T>G (n.483+49410T>G)
c.552+49410T>G (n.552+49410T>G)
c.620T>G (p.Ile207Ser)
c.530T>G (p.Ile177Ser)
c.623T>G (p.Ile208Ser)
c.382-51648T>G (n.382-51648T>G)
c.305T>G (p.Ile102Ser)
c.692T>G (p.Ile231Ser)
c.689T>G (p.Ile230Ser)
c.233T>G (p.Ile78Ser)
10g.113089537T>CCA2574671143TCF7L2c.483+49411T>C (n.483+49411T>C)
c.552+49411T>C (n.552+49411T>C)
c.621T>C (p.Ile207=)
c.531T>C (p.Ile177=)
c.624T>C (p.Ile208=)
c.382-51647T>C (n.382-51647T>C)
c.306T>C (p.Ile102=)
c.693T>C (p.Ile231=)
c.690T>C (p.Ile230=)
c.234T>C (p.Ile78=)
10g.113089537T>GCA378532887TCF7L2c.483+49411T>G (n.483+49411T>G)
c.552+49411T>G (n.552+49411T>G)
c.621T>G (p.Ile207Met)
c.531T>G (p.Ile177Met)
c.624T>G (p.Ile208Met)
c.382-51647T>G (n.382-51647T>G)
c.306T>G (p.Ile102Met)
c.693T>G (p.Ile231Met)
c.690T>G (p.Ile230Met)
c.234T>G (p.Ile78Met)
10g.113089538G>ACA378532890TCF7L2c.483+49412G>A (n.483+49412G>A)
c.552+49412G>A (n.552+49412G>A)
c.622G>A (p.Glu208Lys)
c.532G>A (p.Glu178Lys)
c.625G>A (p.Glu209Lys)
c.382-51646G>A (n.382-51646G>A)
c.307G>A (p.Glu103Lys)
c.694G>A (p.Glu232Lys)
c.691G>A (p.Glu231Lys)
c.235G>A (p.Glu79Lys)
10g.113089538G>CCA378532888TCF7L2c.483+49412G>C (n.483+49412G>C)
c.552+49412G>C (n.552+49412G>C)
c.622G>C (p.Glu208Gln)
c.532G>C (p.Glu178Gln)
c.625G>C (p.Glu209Gln)
c.382-51646G>C (n.382-51646G>C)
c.307G>C (p.Glu103Gln)
c.694G>C (p.Glu232Gln)
c.691G>C (p.Glu231Gln)
c.235G>C (p.Glu79Gln)
dbSNP
10g.113089538G=CA1937197489TCF7L2c.483+49412G= (n.483+49412G=)
c.552+49412G= (n.552+49412G=)
c.622G= (p.Glu208=)
c.532G= (p.Glu178=)
c.625G= (p.Glu209=)
c.382-51646G= (n.382-51646G=)
c.307G= (p.Glu103=)
c.694G= (p.Glu232=)
c.691G= (p.Glu231=)
c.235G= (p.Glu79=)
10g.113089538G>TCA378532889TCF7L2c.483+49412G>T (n.483+49412G>T)
c.552+49412G>T (n.552+49412G>T)
c.622G>T (p.Glu208Ter)
c.532G>T (p.Glu178Ter)
c.625G>T (p.Glu209Ter)
c.382-51646G>T (n.382-51646G>T)
c.307G>T (p.Glu103Ter)
c.694G>T (p.Glu232Ter)
c.691G>T (p.Glu231Ter)
c.235G>T (p.Glu79Ter)
10g.113089539A>CCA378532892TCF7L2c.483+49413A>C (n.483+49413A>C)
c.552+49413A>C (n.552+49413A>C)
c.623A>C (p.Glu208Ala)
c.533A>C (p.Glu178Ala)
c.626A>C (p.Glu209Ala)
c.382-51645A>C (n.382-51645A>C)
c.308A>C (p.Glu103Ala)
c.695A>C (p.Glu232Ala)
c.692A>C (p.Glu231Ala)
c.236A>C (p.Glu79Ala)
10g.113089539A>GCA378532893TCF7L2c.483+49413A>G (n.483+49413A>G)
c.552+49413A>G (n.552+49413A>G)
c.623A>G (p.Glu208Gly)
c.533A>G (p.Glu178Gly)
c.626A>G (p.Glu209Gly)
c.382-51645A>G (n.382-51645A>G)
c.308A>G (p.Glu103Gly)
c.695A>G (p.Glu232Gly)
c.692A>G (p.Glu231Gly)
c.236A>G (p.Glu79Gly)
10g.113089539A>TCA378532894TCF7L2c.483+49413A>T (n.483+49413A>T)
c.552+49413A>T (n.552+49413A>T)
c.623A>T (p.Glu208Val)
c.533A>T (p.Glu178Val)
c.626A>T (p.Glu209Val)
c.382-51645A>T (n.382-51645A>T)
c.308A>T (p.Glu103Val)
c.695A>T (p.Glu232Val)
c.692A>T (p.Glu231Val)
c.236A>T (p.Glu79Val)

Number of alleles fetched