Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.113089525G>A | CA5692914 | TCF7L2 | c.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 |
10 | g.113089525G>C | CA378532859 | TCF7L2 | c.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) | |
10 | g.113089525G= | CA1937197481 | TCF7L2 | c.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=) | |
10 | g.113089525G>T | CA378532858 | TCF7L2 | c.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) | |
10 | g.113089526C>A | CA378532860 | TCF7L2 | c.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) | |
10 | g.113089526C= | CA1937197482 | TCF7L2 | c.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=) | |
10 | g.113089526C>G | CA378532861 | TCF7L2 | c.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) | |
10 | g.113089526C>T | CA378532862 | TCF7L2 | c.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 |
10 | g.113089527C>A | CA378532863 | TCF7L2 | c.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) | |
10 | g.113089527C= | CA1937197483 | TCF7L2 | c.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=) | |
10 | g.113089527C>G | CA378532864 | TCF7L2 | c.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) | |
10 | g.113089527C>T | CA214116537 | TCF7L2 | c.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 |
10 | g.113089529T>A | CA378532865 | TCF7L2 | c.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) | |
10 | g.113089529T>C | CA378532866 | TCF7L2 | c.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) | |
10 | g.113089529T>G | CA378532867 | TCF7L2 | c.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) | |
10 | g.113089530G>A | CA378532868 | TCF7L2 | c.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) | |
10 | g.113089530G>C | CA378532869 | TCF7L2 | c.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) | |
10 | g.113089530G= | CA1937197484 | TCF7L2 | c.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=) | |
10 | g.113089530G>T | CA378532870 | TCF7L2 | c.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 |
10 | g.113089531G>A | CA378532872 | TCF7L2 | c.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) | |
10 | g.113089531G>C | CA378532873 | TCF7L2 | c.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 |
10 | g.113089531G= | CA1937197485 | TCF7L2 | c.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=) | |
10 | g.113089531G>T | CA378532871 | TCF7L2 | c.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) | |
10 | g.113089532T>A | CA378532874 | TCF7L2 | c.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) | |
10 | g.113089532T>C | CA378532876 | TCF7L2 | c.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 |
10 | g.113089532T>G | CA378532875 | TCF7L2 | c.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) | |
10 | g.113089532T= | CA1937197486 | TCF7L2 | c.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=) | |
10 | g.113089533G>A | CA5692915 | TCF7L2 | c.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 |
10 | g.113089533G>C | CA378532877 | TCF7L2 | c.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) | |
10 | g.113089533G= | CA1937197487 | TCF7L2 | c.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=) | |
10 | g.113089533G>T | CA378532878 | TCF7L2 | c.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) | |
10 | g.113089534T>A | CA378532879 | TCF7L2 | c.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) | |
10 | g.113089534T>C | CA471493206 | TCF7L2 | c.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 |
10 | g.113089534T>G | CA378532880 | TCF7L2 | c.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) | |
10 | g.113089535A= | CA1937197488 | TCF7L2 | c.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=) | |
10 | g.113089535A>C | CA378532881 | TCF7L2 | c.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) | |
10 | g.113089535A>G | CA214116538 | TCF7L2 | c.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 |
10 | g.113089535A>T | CA378532882 | TCF7L2 | c.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) | |
10 | g.113089536T>A | CA378532883 | TCF7L2 | c.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) | |
10 | g.113089536T>C | CA378532885 | TCF7L2 | c.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 |
10 | g.113089536T>G | CA378532886 | TCF7L2 | c.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) | |
10 | g.113089537T>C | CA2574671143 | TCF7L2 | c.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=) | |
10 | g.113089537T>G | CA378532887 | TCF7L2 | c.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) | |
10 | g.113089538G>A | CA378532890 | TCF7L2 | c.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) | |
10 | g.113089538G>C | CA378532888 | TCF7L2 | c.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 |
10 | g.113089538G= | CA1937197489 | TCF7L2 | c.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=) | |
10 | g.113089538G>T | CA378532889 | TCF7L2 | c.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) | |
10 | g.113089539A>C | CA378532892 | TCF7L2 | c.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) | |
10 | g.113089539A>G | CA378532893 | TCF7L2 | c.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) | |
10 | g.113089539A>T | CA378532894 | TCF7L2 | c.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) |