Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.150750110A=CA1142166734CTSSc.689T= (p.Leu230=)
c.461T= (p.Leu154=)
c.416T= (p.Leu139=)
c.539T= (p.Leu180=)
c.627+1671T= (n.627+1671T=)
c.512T= (p.Leu171=)
n.566+1671T=
c.116T= (p.Leu39=)
1g.150750110A>CCA342327374CTSSc.689T>G (p.Leu230Arg)
c.461T>G (p.Leu154Arg)
c.416T>G (p.Leu139Arg)
c.539T>G (p.Leu180Arg)
c.627+1671T>G (n.627+1671T>G)
c.512T>G (p.Leu171Arg)
n.566+1671T>G
c.116T>G (p.Leu39Arg)
1g.150750110A>GCA30106874CTSSc.689T>C (p.Leu230Pro)
c.461T>C (p.Leu154Pro)
c.416T>C (p.Leu139Pro)
c.539T>C (p.Leu180Pro)
c.627+1671T>C (n.627+1671T>C)
c.512T>C (p.Leu171Pro)
n.566+1671T>C
c.116T>C (p.Leu39Pro)
dbSNP gnomAD v3 gnomAD v4
1g.150750110A>TCA342327372CTSSc.689T>A (p.Leu230His)
c.461T>A (p.Leu154His)
c.416T>A (p.Leu139His)
c.539T>A (p.Leu180His)
c.627+1671T>A (n.627+1671T>A)
c.512T>A (p.Leu171His)
n.566+1671T>A
c.116T>A (p.Leu39His)
1g.150750111G>ACA342327379CTSSc.688C>T (p.Leu230Phe)
c.460C>T (p.Leu154Phe)
c.415C>T (p.Leu139Phe)
c.538C>T (p.Leu180Phe)
c.627+1670C>T (n.627+1670C>T)
c.511C>T (p.Leu171Phe)
n.566+1670C>T
c.115C>T (p.Leu39Phe)
1g.150750111G>CCA342327377CTSSc.688C>G (p.Leu230Val)
c.460C>G (p.Leu154Val)
c.415C>G (p.Leu139Val)
c.538C>G (p.Leu180Val)
c.627+1670C>G (n.627+1670C>G)
c.511C>G (p.Leu171Val)
n.566+1670C>G
c.115C>G (p.Leu39Val)
1g.150750111G>TCA342327380CTSSc.688C>A (p.Leu230Ile)
c.460C>A (p.Leu154Ile)
c.415C>A (p.Leu139Ile)
c.538C>A (p.Leu180Ile)
c.627+1670C>A (n.627+1670C>A)
c.511C>A (p.Leu171Ile)
n.566+1670C>A
c.115C>A (p.Leu39Ile)
1g.150750112T>ACA342327383CTSSc.687A>T (p.Glu229Asp)
c.459A>T (p.Glu153Asp)
c.414A>T (p.Glu138Asp)
c.537A>T (p.Glu179Asp)
c.627+1669A>T (n.627+1669A>T)
c.510A>T (p.Glu170Asp)
n.566+1669A>T
c.114A>T (p.Glu38Asp)
1g.150750112T>CCA420697840CTSSc.687A>G (p.Glu229=)
c.459A>G (p.Glu153=)
c.414A>G (p.Glu138=)
c.537A>G (p.Glu179=)
c.627+1669A>G (n.627+1669A>G)
c.510A>G (p.Glu170=)
n.566+1669A>G
c.114A>G (p.Glu38=)
COSMIC
1g.150750112T>GCA342327386CTSSc.687A>C (p.Glu229Asp)
c.459A>C (p.Glu153Asp)
c.414A>C (p.Glu138Asp)
c.537A>C (p.Glu179Asp)
c.627+1669A>C (n.627+1669A>C)
c.510A>C (p.Glu170Asp)
n.566+1669A>C
c.114A>C (p.Glu38Asp)
1g.150750113T>ACA342327390CTSSc.686A>T (p.Glu229Val)
c.458A>T (p.Glu153Val)
c.413A>T (p.Glu138Val)
c.536A>T (p.Glu179Val)
c.627+1668A>T (n.627+1668A>T)
c.509A>T (p.Glu170Val)
n.566+1668A>T
c.113A>T (p.Glu38Val)
1g.150750113T>CCA342327391CTSSc.686A>G (p.Glu229Gly)
c.458A>G (p.Glu153Gly)
c.413A>G (p.Glu138Gly)
c.536A>G (p.Glu179Gly)
c.627+1668A>G (n.627+1668A>G)
c.509A>G (p.Glu170Gly)
n.566+1668A>G
c.113A>G (p.Glu38Gly)
gnomAD v4
1g.150750113T>GCA342327392CTSSc.686A>C (p.Glu229Ala)
c.458A>C (p.Glu153Ala)
c.413A>C (p.Glu138Ala)
c.536A>C (p.Glu179Ala)
c.627+1668A>C (n.627+1668A>C)
c.509A>C (p.Glu170Ala)
n.566+1668A>C
c.113A>C (p.Glu38Ala)
1g.150750114C>ACA342327395CTSSc.685G>T (p.Glu229Ter)
c.457G>T (p.Glu153Ter)
c.412G>T (p.Glu138Ter)
c.535G>T (p.Glu179Ter)
c.627+1667G>T (n.627+1667G>T)
c.508G>T (p.Glu170Ter)
n.566+1667G>T
c.112G>T (p.Glu38Ter)
1g.150750114C>GCA342327397CTSSc.685G>C (p.Glu229Gln)
c.457G>C (p.Glu153Gln)
c.412G>C (p.Glu138Gln)
c.535G>C (p.Glu179Gln)
c.627+1667G>C (n.627+1667G>C)
c.508G>C (p.Glu170Gln)
n.566+1667G>C
c.112G>C (p.Glu38Gln)
1g.150750114C>TCA342327400CTSSc.685G>A (p.Glu229Lys)
c.457G>A (p.Glu153Lys)
c.412G>A (p.Glu138Lys)
c.535G>A (p.Glu179Lys)
c.627+1667G>A (n.627+1667G>A)
c.508G>A (p.Glu170Lys)
n.566+1667G>A
c.112G>A (p.Glu38Lys)
gnomAD v4
1g.150750115A=CA2479293041CTSSc.684T= (p.Thr228=)
c.456T= (p.Thr152=)
c.411T= (p.Thr137=)
c.534T= (p.Thr178=)
c.627+1666T= (n.627+1666T=)
c.507T= (p.Thr169=)
n.566+1666T=
c.111T= (p.Thr37=)
1g.150750115A>CCA420697845CTSSc.684T>G (p.Thr228=)
c.456T>G (p.Thr152=)
c.411T>G (p.Thr137=)
c.534T>G (p.Thr178=)
c.627+1666T>G (n.627+1666T>G)
c.507T>G (p.Thr169=)
n.566+1666T>G
c.111T>G (p.Thr37=)
dbSNP gnomAD v2 gnomAD v4
1g.150750115A>GCA420697843CTSSc.684T>C (p.Thr228=)
c.456T>C (p.Thr152=)
c.411T>C (p.Thr137=)
c.534T>C (p.Thr178=)
c.627+1666T>C (n.627+1666T>C)
c.507T>C (p.Thr169=)
n.566+1666T>C
c.111T>C (p.Thr37=)
1g.150750115A>TCA420697844CTSSc.684T>A (p.Thr228=)
c.456T>A (p.Thr152=)
c.411T>A (p.Thr137=)
c.534T>A (p.Thr178=)
c.627+1666T>A (n.627+1666T>A)
c.507T>A (p.Thr169=)
n.566+1666T>A
c.111T>A (p.Thr37=)
1g.150750116G>ACA342327402CTSSc.683C>T (p.Thr228Ile)
c.455C>T (p.Thr152Ile)
c.410C>T (p.Thr137Ile)
c.533C>T (p.Thr178Ile)
c.627+1665C>T (n.627+1665C>T)
c.506C>T (p.Thr169Ile)
n.566+1665C>T
c.110C>T (p.Thr37Ile)
COSMIC
1g.150750116G>CCA342327404CTSSc.683C>G (p.Thr228Ser)
c.455C>G (p.Thr152Ser)
c.410C>G (p.Thr137Ser)
c.533C>G (p.Thr178Ser)
c.627+1665C>G (n.627+1665C>G)
c.506C>G (p.Thr169Ser)
n.566+1665C>G
c.110C>G (p.Thr37Ser)
1g.150750116G>TCA342327407CTSSc.683C>A (p.Thr228Asn)
c.455C>A (p.Thr152Asn)
c.410C>A (p.Thr137Asn)
c.533C>A (p.Thr178Asn)
c.627+1665C>A (n.627+1665C>A)
c.506C>A (p.Thr169Asn)
n.566+1665C>A
c.110C>A (p.Thr37Asn)
1g.150750117T>ACA342327409CTSSc.682A>T (p.Thr228Ser)
c.454A>T (p.Thr152Ser)
c.409A>T (p.Thr137Ser)
c.532A>T (p.Thr178Ser)
c.627+1664A>T (n.627+1664A>T)
c.505A>T (p.Thr169Ser)
n.566+1664A>T
c.109A>T (p.Thr37Ser)
1g.150750117T>CCA1080227CTSSc.682A>G (p.Thr228Ala)
c.454A>G (p.Thr152Ala)
c.409A>G (p.Thr137Ala)
c.532A>G (p.Thr178Ala)
c.627+1664A>G (n.627+1664A>G)
c.505A>G (p.Thr169Ala)
n.566+1664A>G
c.109A>G (p.Thr37Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.150750117T>GCA342327412CTSSc.682A>C (p.Thr228Pro)
c.454A>C (p.Thr152Pro)
c.409A>C (p.Thr137Pro)
c.532A>C (p.Thr178Pro)
c.627+1664A>C (n.627+1664A>C)
c.505A>C (p.Thr169Pro)
n.566+1664A>C
c.109A>C (p.Thr37Pro)
1g.150750117T=CA2479293042CTSSc.682A= (p.Thr228=)
c.454A= (p.Thr152=)
c.409A= (p.Thr137=)
c.532A= (p.Thr178=)
c.627+1664A= (n.627+1664A=)
c.505A= (p.Thr169=)
n.566+1664A=
c.109A= (p.Thr37=)
1g.150750118G>ACA420697849CTSSc.681C>T (p.Tyr227=)
c.453C>T (p.Tyr151=)
c.408C>T (p.Tyr136=)
c.531C>T (p.Tyr177=)
c.627+1663C>T (n.627+1663C>T)
c.504C>T (p.Tyr168=)
n.566+1663C>T
c.108C>T (p.Tyr36=)
1g.150750118G>CCA342327414CTSSc.681C>G (p.Tyr227Ter)
c.453C>G (p.Tyr151Ter)
c.408C>G (p.Tyr136Ter)
c.531C>G (p.Tyr177Ter)
c.627+1663C>G (n.627+1663C>G)
c.504C>G (p.Tyr168Ter)
n.566+1663C>G
c.108C>G (p.Tyr36Ter)
1g.150750118G>TCA342327413CTSSc.681C>A (p.Tyr227Ter)
c.453C>A (p.Tyr151Ter)
c.408C>A (p.Tyr136Ter)
c.531C>A (p.Tyr177Ter)
c.627+1663C>A (n.627+1663C>A)
c.504C>A (p.Tyr168Ter)
n.566+1663C>A
c.108C>A (p.Tyr36Ter)
1g.150750119T>ACA342327415CTSSc.680A>T (p.Tyr227Phe)
c.452A>T (p.Tyr151Phe)
c.407A>T (p.Tyr136Phe)
c.530A>T (p.Tyr177Phe)
c.627+1662A>T (n.627+1662A>T)
c.503A>T (p.Tyr168Phe)
n.566+1662A>T
c.107A>T (p.Tyr36Phe)
1g.150750119T>CCA342327416CTSSc.680A>G (p.Tyr227Cys)
c.452A>G (p.Tyr151Cys)
c.407A>G (p.Tyr136Cys)
c.530A>G (p.Tyr177Cys)
c.627+1662A>G (n.627+1662A>G)
c.503A>G (p.Tyr168Cys)
n.566+1662A>G
c.107A>G (p.Tyr36Cys)
1g.150750119T>GCA342327417CTSSc.680A>C (p.Tyr227Ser)
c.452A>C (p.Tyr151Ser)
c.407A>C (p.Tyr136Ser)
c.530A>C (p.Tyr177Ser)
c.627+1662A>C (n.627+1662A>C)
c.503A>C (p.Tyr168Ser)
n.566+1662A>C
c.107A>C (p.Tyr36Ser)
1g.150750120A>CCA342327419CTSSc.679T>G (p.Tyr227Asp)
c.451T>G (p.Tyr151Asp)
c.406T>G (p.Tyr136Asp)
c.529T>G (p.Tyr177Asp)
c.627+1661T>G (n.627+1661T>G)
c.502T>G (p.Tyr168Asp)
n.566+1661T>G
c.106T>G (p.Tyr36Asp)
1g.150750120A>GCA342327421CTSSc.679T>C (p.Tyr227His)
c.451T>C (p.Tyr151His)
c.406T>C (p.Tyr136His)
c.529T>C (p.Tyr177His)
c.627+1661T>C (n.627+1661T>C)
c.502T>C (p.Tyr168His)
n.566+1661T>C
c.106T>C (p.Tyr36His)
1g.150750120A>TCA342327424CTSSc.679T>A (p.Tyr227Asn)
c.451T>A (p.Tyr151Asn)
c.406T>A (p.Tyr136Asn)
c.529T>A (p.Tyr177Asn)
c.627+1661T>A (n.627+1661T>A)
c.502T>A (p.Tyr168Asn)
n.566+1661T>A
c.106T>A (p.Tyr36Asn)
1g.150750121C>ACA1080228CTSSc.678G>T (p.Lys226Asn)
c.450G>T (p.Lys150Asn)
c.405G>T (p.Lys135Asn)
c.528G>T (p.Lys176Asn)
c.627+1660G>T (n.627+1660G>T)
c.501G>T (p.Lys167Asn)
n.566+1660G>T
c.105G>T (p.Lys35Asn)
dbSNP ExAC gnomAD v2 COSMIC
1g.150750121C=CA2479293043CTSSc.678G= (p.Lys226=)
c.450G= (p.Lys150=)
c.405G= (p.Lys135=)
c.528G= (p.Lys176=)
c.627+1660G= (n.627+1660G=)
c.501G= (p.Lys167=)
n.566+1660G=
c.105G= (p.Lys35=)
1g.150750121C>GCA342327426CTSSc.678G>C (p.Lys226Asn)
c.450G>C (p.Lys150Asn)
c.405G>C (p.Lys135Asn)
c.528G>C (p.Lys176Asn)
c.627+1660G>C (n.627+1660G>C)
c.501G>C (p.Lys167Asn)
n.566+1660G>C
c.105G>C (p.Lys35Asn)
1g.150750121C>TCA420697850CTSSc.678G>A (p.Lys226=)
c.450G>A (p.Lys150=)
c.405G>A (p.Lys135=)
c.528G>A (p.Lys176=)
c.627+1660G>A (n.627+1660G>A)
c.501G>A (p.Lys167=)
n.566+1660G>A
c.105G>A (p.Lys35=)
1g.150750122T>ACA342327430CTSSc.677A>T (p.Lys226Met)
c.449A>T (p.Lys150Met)
c.404A>T (p.Lys135Met)
c.527A>T (p.Lys176Met)
c.627+1659A>T (n.627+1659A>T)
c.500A>T (p.Lys167Met)
n.566+1659A>T
c.104A>T (p.Lys35Met)
1g.150750122T>CCA342327432CTSSc.677A>G (p.Lys226Arg)
c.449A>G (p.Lys150Arg)
c.404A>G (p.Lys135Arg)
c.527A>G (p.Lys176Arg)
c.627+1659A>G (n.627+1659A>G)
c.500A>G (p.Lys167Arg)
n.566+1659A>G
c.104A>G (p.Lys35Arg)
1g.150750122T>GCA342327434CTSSc.677A>C (p.Lys226Thr)
c.449A>C (p.Lys150Thr)
c.404A>C (p.Lys135Thr)
c.527A>C (p.Lys176Thr)
c.627+1659A>C (n.627+1659A>C)
c.500A>C (p.Lys167Thr)
n.566+1659A>C
c.104A>C (p.Lys35Thr)
1g.150750123T>ACA342327437CTSSc.676A>T (p.Lys226Ter)
c.448A>T (p.Lys150Ter)
c.403A>T (p.Lys135Ter)
c.526A>T (p.Lys176Ter)
c.627+1658A>T (n.627+1658A>T)
c.499A>T (p.Lys167Ter)
n.566+1658A>T
c.103A>T (p.Lys35Ter)
1g.150750123T>CCA342327441CTSSc.676A>G (p.Lys226Glu)
c.448A>G (p.Lys150Glu)
c.403A>G (p.Lys135Glu)
c.526A>G (p.Lys176Glu)
c.627+1658A>G (n.627+1658A>G)
c.499A>G (p.Lys167Glu)
n.566+1658A>G
c.103A>G (p.Lys35Glu)
1g.150750123T>GCA342327452CTSSc.676A>C (p.Lys226Gln)
c.448A>C (p.Lys150Gln)
c.403A>C (p.Lys135Gln)
c.526A>C (p.Lys176Gln)
c.627+1658A>C (n.627+1658A>C)
c.499A>C (p.Lys167Gln)
n.566+1658A>C
c.103A>C (p.Lys35Gln)
1g.150750124T>ACA420697852CTSSc.675A>T (p.Ser225=)
c.447A>T (p.Ser149=)
c.402A>T (p.Ser134=)
c.525A>T (p.Ser175=)
c.627+1657A>T (n.627+1657A>T)
c.498A>T (p.Ser166=)
n.566+1657A>T
c.102A>T (p.Ser34=)
1g.150750124T>CCA420697853CTSSc.675A>G (p.Ser225=)
c.447A>G (p.Ser149=)
c.402A>G (p.Ser134=)
c.525A>G (p.Ser175=)
c.627+1657A>G (n.627+1657A>G)
c.498A>G (p.Ser166=)
n.566+1657A>G
c.102A>G (p.Ser34=)
1g.150750124T>GCA420697851CTSSc.675A>C (p.Ser225=)
c.447A>C (p.Ser149=)
c.402A>C (p.Ser134=)
c.525A>C (p.Ser175=)
c.627+1657A>C (n.627+1657A>C)
c.498A>C (p.Ser166=)
n.566+1657A>C
c.102A>C (p.Ser34=)
COSMIC
1g.150750125G>ACA342327455CTSSc.674C>T (p.Ser225Leu)
c.446C>T (p.Ser149Leu)
c.401C>T (p.Ser134Leu)
c.524C>T (p.Ser175Leu)
c.627+1656C>T (n.627+1656C>T)
c.497C>T (p.Ser166Leu)
n.566+1656C>T
c.101C>T (p.Ser34Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched