Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046470C>ACA374630717TNCc.318-4129G>T
c.3215-4129G>T (n.3215-4129G>T)
c.3976G>T (p.Glu1326Ter)
c.2008G>T (p.Glu670Ter)
c.664G>T (p.Glu222Ter)
c.4023G>T
c.5065G>T (p.Glu1689Ter)
c.4519G>T (p.Glu1507Ter)
c.4307-4129G>T (n.4307-4129G>T)
n.383G>T
n.253-4129G>T
n.40-4129G>T
c.752G>T
c.4792G>T (p.Glu1598Ter)
c.4034-4129G>T (n.4034-4129G>T)
c.3427G>T (p.Glu1143Ter)
c.5341G>T (p.Glu1781Ter)
c.3488-4129G>T (n.3488-4129G>T)
c.5068G>T (p.Glu1690Ter)
c.4522G>T (p.Glu1508Ter)
c.4580-4129G>T (n.4580-4129G>T)
c.4249G>T (p.Glu1417Ter)
c.3761-4129G>T (n.3761-4129G>T)
c.3700G>T (p.Glu1234Ter)
c.5614G>T (p.Glu1872Ter)
c.5338G>T (p.Glu1780Ter)
 COSMIC
9g.115046470C>GCA374630719TNCc.318-4129G>C
c.3215-4129G>C (n.3215-4129G>C)
c.3976G>C (p.Glu1326Gln)
c.2008G>C (p.Glu670Gln)
c.664G>C (p.Glu222Gln)
c.4023G>C
c.5065G>C (p.Glu1689Gln)
c.4519G>C (p.Glu1507Gln)
c.4307-4129G>C (n.4307-4129G>C)
n.383G>C
n.253-4129G>C
n.40-4129G>C
c.752G>C
c.4792G>C (p.Glu1598Gln)
c.4034-4129G>C (n.4034-4129G>C)
c.3427G>C (p.Glu1143Gln)
c.5341G>C (p.Glu1781Gln)
c.3488-4129G>C (n.3488-4129G>C)
c.5068G>C (p.Glu1690Gln)
c.4522G>C (p.Glu1508Gln)
c.4580-4129G>C (n.4580-4129G>C)
c.4249G>C (p.Glu1417Gln)
c.3761-4129G>C (n.3761-4129G>C)
c.3700G>C (p.Glu1234Gln)
c.5614G>C (p.Glu1872Gln)
c.5338G>C (p.Glu1780Gln)
9g.115046470C>TCA374630721TNCc.318-4129G>A
c.3215-4129G>A (n.3215-4129G>A)
c.3976G>A (p.Glu1326Lys)
c.2008G>A (p.Glu670Lys)
c.664G>A (p.Glu222Lys)
c.4023G>A
c.5065G>A (p.Glu1689Lys)
c.4519G>A (p.Glu1507Lys)
c.4307-4129G>A (n.4307-4129G>A)
n.383G>A
n.253-4129G>A
n.40-4129G>A
c.752G>A
c.4792G>A (p.Glu1598Lys)
c.4034-4129G>A (n.4034-4129G>A)
c.3427G>A (p.Glu1143Lys)
c.5341G>A (p.Glu1781Lys)
c.3488-4129G>A (n.3488-4129G>A)
c.5068G>A (p.Glu1690Lys)
c.4522G>A (p.Glu1508Lys)
c.4580-4129G>A (n.4580-4129G>A)
c.4249G>A (p.Glu1417Lys)
c.3761-4129G>A (n.3761-4129G>A)
c.3700G>A (p.Glu1234Lys)
c.5614G>A (p.Glu1872Lys)
c.5338G>A (p.Glu1780Lys)
 gnomAD v4 COSMIC
9g.115046471A>CCA374630722TNCc.318-4130T>G
c.3215-4130T>G (n.3215-4130T>G)
c.3975T>G (p.Ile1325Met)
c.2007T>G (p.Ile669Met)
c.663T>G (p.Ile221Met)
c.4022T>G
c.5064T>G (p.Ile1688Met)
c.4518T>G (p.Ile1506Met)
c.4307-4130T>G (n.4307-4130T>G)
n.382T>G
n.253-4130T>G
n.40-4130T>G
c.751T>G
c.4791T>G (p.Ile1597Met)
c.4034-4130T>G (n.4034-4130T>G)
c.3426T>G (p.Ile1142Met)
c.5340T>G (p.Ile1780Met)
c.3488-4130T>G (n.3488-4130T>G)
c.5067T>G (p.Ile1689Met)
c.4521T>G (p.Ile1507Met)
c.4580-4130T>G (n.4580-4130T>G)
c.4248T>G (p.Ile1416Met)
c.3761-4130T>G (n.3761-4130T>G)
c.3699T>G (p.Ile1233Met)
c.5613T>G (p.Ile1871Met)
c.5337T>G (p.Ile1779Met)
9g.115046471A>GCA466912375TNCc.318-4130T>C
c.3215-4130T>C (n.3215-4130T>C)
c.3975T>C (p.Ile1325=)
c.2007T>C (p.Ile669=)
c.663T>C (p.Ile221=)
c.4022T>C
c.5064T>C (p.Ile1688=)
c.4518T>C (p.Ile1506=)
c.4307-4130T>C (n.4307-4130T>C)
n.382T>C
n.253-4130T>C
n.40-4130T>C
c.751T>C
c.4791T>C (p.Ile1597=)
c.4034-4130T>C (n.4034-4130T>C)
c.3426T>C (p.Ile1142=)
c.5340T>C (p.Ile1780=)
c.3488-4130T>C (n.3488-4130T>C)
c.5067T>C (p.Ile1689=)
c.4521T>C (p.Ile1507=)
c.4580-4130T>C (n.4580-4130T>C)
c.4248T>C (p.Ile1416=)
c.3761-4130T>C (n.3761-4130T>C)
c.3699T>C (p.Ile1233=)
c.5613T>C (p.Ile1871=)
c.5337T>C (p.Ile1779=)
9g.115046471A>TCA466912376TNCc.318-4130T>A
c.3215-4130T>A (n.3215-4130T>A)
c.3975T>A (p.Ile1325=)
c.2007T>A (p.Ile669=)
c.663T>A (p.Ile221=)
c.4022T>A
c.5064T>A (p.Ile1688=)
c.4518T>A (p.Ile1506=)
c.4307-4130T>A (n.4307-4130T>A)
n.382T>A
n.253-4130T>A
n.40-4130T>A
c.751T>A
c.4791T>A (p.Ile1597=)
c.4034-4130T>A (n.4034-4130T>A)
c.3426T>A (p.Ile1142=)
c.5340T>A (p.Ile1780=)
c.3488-4130T>A (n.3488-4130T>A)
c.5067T>A (p.Ile1689=)
c.4521T>A (p.Ile1507=)
c.4580-4130T>A (n.4580-4130T>A)
c.4248T>A (p.Ile1416=)
c.3761-4130T>A (n.3761-4130T>A)
c.3699T>A (p.Ile1233=)
c.5613T>A (p.Ile1871=)
c.5337T>A (p.Ile1779=)
9g.115046472A=CA1874118881TNCc.318-4131T=
c.3215-4131T= (n.3215-4131T=)
c.3974T= (p.Ile1325=)
c.2006T= (p.Ile669=)
c.662T= (p.Ile221=)
c.4021T=
c.5063T= (p.Ile1688=)
c.4517T= (p.Ile1506=)
c.4307-4131T= (n.4307-4131T=)
n.381T=
n.253-4131T=
n.40-4131T=
c.750T=
c.4790T= (p.Ile1597=)
c.4034-4131T= (n.4034-4131T=)
c.3425T= (p.Ile1142=)
c.5339T= (p.Ile1780=)
c.3488-4131T= (n.3488-4131T=)
c.5066T= (p.Ile1689=)
c.4520T= (p.Ile1507=)
c.4580-4131T= (n.4580-4131T=)
c.4247T= (p.Ile1416=)
c.3761-4131T= (n.3761-4131T=)
c.3698T= (p.Ile1233=)
c.5612T= (p.Ile1871=)
c.5336T= (p.Ile1779=)
9g.115046472A>CCA374630724TNCc.318-4131T>G
c.3215-4131T>G (n.3215-4131T>G)
c.3974T>G (p.Ile1325Ser)
c.2006T>G (p.Ile669Ser)
c.662T>G (p.Ile221Ser)
c.4021T>G
c.5063T>G (p.Ile1688Ser)
c.4517T>G (p.Ile1506Ser)
c.4307-4131T>G (n.4307-4131T>G)
n.381T>G
n.253-4131T>G
n.40-4131T>G
c.750T>G
c.4790T>G (p.Ile1597Ser)
c.4034-4131T>G (n.4034-4131T>G)
c.3425T>G (p.Ile1142Ser)
c.5339T>G (p.Ile1780Ser)
c.3488-4131T>G (n.3488-4131T>G)
c.5066T>G (p.Ile1689Ser)
c.4520T>G (p.Ile1507Ser)
c.4580-4131T>G (n.4580-4131T>G)
c.4247T>G (p.Ile1416Ser)
c.3761-4131T>G (n.3761-4131T>G)
c.3698T>G (p.Ile1233Ser)
c.5612T>G (p.Ile1871Ser)
c.5336T>G (p.Ile1779Ser)
9g.115046472A>GCA5207765TNCc.318-4131T>C
c.3215-4131T>C (n.3215-4131T>C)
c.3974T>C (p.Ile1325Thr)
c.2006T>C (p.Ile669Thr)
c.662T>C (p.Ile221Thr)
c.4021T>C
c.5063T>C (p.Ile1688Thr)
c.4517T>C (p.Ile1506Thr)
c.4307-4131T>C (n.4307-4131T>C)
n.381T>C
n.253-4131T>C
n.40-4131T>C
c.750T>C
c.4790T>C (p.Ile1597Thr)
c.4034-4131T>C (n.4034-4131T>C)
c.3425T>C (p.Ile1142Thr)
c.5339T>C (p.Ile1780Thr)
c.3488-4131T>C (n.3488-4131T>C)
c.5066T>C (p.Ile1689Thr)
c.4520T>C (p.Ile1507Thr)
c.4580-4131T>C (n.4580-4131T>C)
c.4247T>C (p.Ile1416Thr)
c.3761-4131T>C (n.3761-4131T>C)
c.3698T>C (p.Ile1233Thr)
c.5612T>C (p.Ile1871Thr)
c.5336T>C (p.Ile1779Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046472A>TCA374630725TNCc.318-4131T>A
c.3215-4131T>A (n.3215-4131T>A)
c.3974T>A (p.Ile1325Asn)
c.2006T>A (p.Ile669Asn)
c.662T>A (p.Ile221Asn)
c.4021T>A
c.5063T>A (p.Ile1688Asn)
c.4517T>A (p.Ile1506Asn)
c.4307-4131T>A (n.4307-4131T>A)
n.381T>A
n.253-4131T>A
n.40-4131T>A
c.750T>A
c.4790T>A (p.Ile1597Asn)
c.4034-4131T>A (n.4034-4131T>A)
c.3425T>A (p.Ile1142Asn)
c.5339T>A (p.Ile1780Asn)
c.3488-4131T>A (n.3488-4131T>A)
c.5066T>A (p.Ile1689Asn)
c.4520T>A (p.Ile1507Asn)
c.4580-4131T>A (n.4580-4131T>A)
c.4247T>A (p.Ile1416Asn)
c.3761-4131T>A (n.3761-4131T>A)
c.3698T>A (p.Ile1233Asn)
c.5612T>A (p.Ile1871Asn)
c.5336T>A (p.Ile1779Asn)
9g.115046473T>ACA374630728TNCc.318-4132A>T
c.3215-4132A>T (n.3215-4132A>T)
c.3973A>T (p.Ile1325Phe)
c.2005A>T (p.Ile669Phe)
c.661A>T (p.Ile221Phe)
c.4020A>T
c.5062A>T (p.Ile1688Phe)
c.4516A>T (p.Ile1506Phe)
c.4307-4132A>T (n.4307-4132A>T)
n.380A>T
n.253-4132A>T
n.40-4132A>T
c.749A>T
c.4789A>T (p.Ile1597Phe)
c.4034-4132A>T (n.4034-4132A>T)
c.3424A>T (p.Ile1142Phe)
c.5338A>T (p.Ile1780Phe)
c.3488-4132A>T (n.3488-4132A>T)
c.5065A>T (p.Ile1689Phe)
c.4519A>T (p.Ile1507Phe)
c.4580-4132A>T (n.4580-4132A>T)
c.4246A>T (p.Ile1416Phe)
c.3761-4132A>T (n.3761-4132A>T)
c.3697A>T (p.Ile1233Phe)
c.5611A>T (p.Ile1871Phe)
c.5335A>T (p.Ile1779Phe)
9g.115046473T>CCA5207766TNCc.318-4132A>G
c.3215-4132A>G (n.3215-4132A>G)
c.3973A>G (p.Ile1325Val)
c.2005A>G (p.Ile669Val)
c.661A>G (p.Ile221Val)
c.4020A>G
c.5062A>G (p.Ile1688Val)
c.4516A>G (p.Ile1506Val)
c.4307-4132A>G (n.4307-4132A>G)
n.380A>G
n.253-4132A>G
n.40-4132A>G
c.749A>G
c.4789A>G (p.Ile1597Val)
c.4034-4132A>G (n.4034-4132A>G)
c.3424A>G (p.Ile1142Val)
c.5338A>G (p.Ile1780Val)
c.3488-4132A>G (n.3488-4132A>G)
c.5065A>G (p.Ile1689Val)
c.4519A>G (p.Ile1507Val)
c.4580-4132A>G (n.4580-4132A>G)
c.4246A>G (p.Ile1416Val)
c.3761-4132A>G (n.3761-4132A>G)
c.3697A>G (p.Ile1233Val)
c.5611A>G (p.Ile1871Val)
c.5335A>G (p.Ile1779Val)
 dbSNP ExAC gnomAD v2
9g.115046473T>GCA374630731TNCc.318-4132A>C
c.3215-4132A>C (n.3215-4132A>C)
c.3973A>C (p.Ile1325Leu)
c.2005A>C (p.Ile669Leu)
c.661A>C (p.Ile221Leu)
c.4020A>C
c.5062A>C (p.Ile1688Leu)
c.4516A>C (p.Ile1506Leu)
c.4307-4132A>C (n.4307-4132A>C)
n.380A>C
n.253-4132A>C
n.40-4132A>C
c.749A>C
c.4789A>C (p.Ile1597Leu)
c.4034-4132A>C (n.4034-4132A>C)
c.3424A>C (p.Ile1142Leu)
c.5338A>C (p.Ile1780Leu)
c.3488-4132A>C (n.3488-4132A>C)
c.5065A>C (p.Ile1689Leu)
c.4519A>C (p.Ile1507Leu)
c.4580-4132A>C (n.4580-4132A>C)
c.4246A>C (p.Ile1416Leu)
c.3761-4132A>C (n.3761-4132A>C)
c.3697A>C (p.Ile1233Leu)
c.5611A>C (p.Ile1871Leu)
c.5335A>C (p.Ile1779Leu)
9g.115046473T=CA1874118882TNCc.318-4132A=
c.3215-4132A= (n.3215-4132A=)
c.3973A= (p.Ile1325=)
c.2005A= (p.Ile669=)
c.661A= (p.Ile221=)
c.4020A=
c.5062A= (p.Ile1688=)
c.4516A= (p.Ile1506=)
c.4307-4132A= (n.4307-4132A=)
n.380A=
n.253-4132A=
n.40-4132A=
c.749A=
c.4789A= (p.Ile1597=)
c.4034-4132A= (n.4034-4132A=)
c.3424A= (p.Ile1142=)
c.5338A= (p.Ile1780=)
c.3488-4132A= (n.3488-4132A=)
c.5065A= (p.Ile1689=)
c.4519A= (p.Ile1507=)
c.4580-4132A= (n.4580-4132A=)
c.4246A= (p.Ile1416=)
c.3761-4132A= (n.3761-4132A=)
c.3697A= (p.Ile1233=)
c.5611A= (p.Ile1871=)
c.5335A= (p.Ile1779=)
9g.115046474T>ACA374630735TNCc.318-4133A>T
c.3215-4133A>T (n.3215-4133A>T)
c.3972A>T (p.Glu1324Asp)
c.2004A>T (p.Glu668Asp)
c.660A>T (p.Glu220Asp)
c.4019A>T
c.5061A>T (p.Glu1687Asp)
c.4515A>T (p.Glu1505Asp)
c.4307-4133A>T (n.4307-4133A>T)
n.379A>T
n.253-4133A>T
n.40-4133A>T
c.748A>T
c.4788A>T (p.Glu1596Asp)
c.4034-4133A>T (n.4034-4133A>T)
c.3423A>T (p.Glu1141Asp)
c.5337A>T (p.Glu1779Asp)
c.3488-4133A>T (n.3488-4133A>T)
c.5064A>T (p.Glu1688Asp)
c.4518A>T (p.Glu1506Asp)
c.4580-4133A>T (n.4580-4133A>T)
c.4245A>T (p.Glu1415Asp)
c.3761-4133A>T (n.3761-4133A>T)
c.3696A>T (p.Glu1232Asp)
c.5610A>T (p.Glu1870Asp)
c.5334A>T (p.Glu1778Asp)
9g.115046474T>CCA466912380TNCc.318-4133A>G
c.3215-4133A>G (n.3215-4133A>G)
c.3972A>G (p.Glu1324=)
c.2004A>G (p.Glu668=)
c.660A>G (p.Glu220=)
c.4019A>G
c.5061A>G (p.Glu1687=)
c.4515A>G (p.Glu1505=)
c.4307-4133A>G (n.4307-4133A>G)
n.379A>G
n.253-4133A>G
n.40-4133A>G
c.748A>G
c.4788A>G (p.Glu1596=)
c.4034-4133A>G (n.4034-4133A>G)
c.3423A>G (p.Glu1141=)
c.5337A>G (p.Glu1779=)
c.3488-4133A>G (n.3488-4133A>G)
c.5064A>G (p.Glu1688=)
c.4518A>G (p.Glu1506=)
c.4580-4133A>G (n.4580-4133A>G)
c.4245A>G (p.Glu1415=)
c.3761-4133A>G (n.3761-4133A>G)
c.3696A>G (p.Glu1232=)
c.5610A>G (p.Glu1870=)
c.5334A>G (p.Glu1778=)
9g.115046474T>GCA374630733TNCc.318-4133A>C
c.3215-4133A>C (n.3215-4133A>C)
c.3972A>C (p.Glu1324Asp)
c.2004A>C (p.Glu668Asp)
c.660A>C (p.Glu220Asp)
c.4019A>C
c.5061A>C (p.Glu1687Asp)
c.4515A>C (p.Glu1505Asp)
c.4307-4133A>C (n.4307-4133A>C)
n.379A>C
n.253-4133A>C
n.40-4133A>C
c.748A>C
c.4788A>C (p.Glu1596Asp)
c.4034-4133A>C (n.4034-4133A>C)
c.3423A>C (p.Glu1141Asp)
c.5337A>C (p.Glu1779Asp)
c.3488-4133A>C (n.3488-4133A>C)
c.5064A>C (p.Glu1688Asp)
c.4518A>C (p.Glu1506Asp)
c.4580-4133A>C (n.4580-4133A>C)
c.4245A>C (p.Glu1415Asp)
c.3761-4133A>C (n.3761-4133A>C)
c.3696A>C (p.Glu1232Asp)
c.5610A>C (p.Glu1870Asp)
c.5334A>C (p.Glu1778Asp)
9g.115046475T>ACA374630736TNCc.318-4134A>T
c.3215-4134A>T (n.3215-4134A>T)
c.3971A>T (p.Glu1324Val)
c.2003A>T (p.Glu668Val)
c.659A>T (p.Glu220Val)
c.4018A>T
c.5060A>T (p.Glu1687Val)
c.4514A>T (p.Glu1505Val)
c.4307-4134A>T (n.4307-4134A>T)
n.378A>T
n.253-4134A>T
n.40-4134A>T
c.747A>T
c.4787A>T (p.Glu1596Val)
c.4034-4134A>T (n.4034-4134A>T)
c.3422A>T (p.Glu1141Val)
c.5336A>T (p.Glu1779Val)
c.3488-4134A>T (n.3488-4134A>T)
c.5063A>T (p.Glu1688Val)
c.4517A>T (p.Glu1506Val)
c.4580-4134A>T (n.4580-4134A>T)
c.4244A>T (p.Glu1415Val)
c.3761-4134A>T (n.3761-4134A>T)
c.3695A>T (p.Glu1232Val)
c.5609A>T (p.Glu1870Val)
c.5333A>T (p.Glu1778Val)
9g.115046475T>CCA374630739TNCc.318-4134A>G
c.3215-4134A>G (n.3215-4134A>G)
c.3971A>G (p.Glu1324Gly)
c.2003A>G (p.Glu668Gly)
c.659A>G (p.Glu220Gly)
c.4018A>G
c.5060A>G (p.Glu1687Gly)
c.4514A>G (p.Glu1505Gly)
c.4307-4134A>G (n.4307-4134A>G)
n.378A>G
n.253-4134A>G
n.40-4134A>G
c.747A>G
c.4787A>G (p.Glu1596Gly)
c.4034-4134A>G (n.4034-4134A>G)
c.3422A>G (p.Glu1141Gly)
c.5336A>G (p.Glu1779Gly)
c.3488-4134A>G (n.3488-4134A>G)
c.5063A>G (p.Glu1688Gly)
c.4517A>G (p.Glu1506Gly)
c.4580-4134A>G (n.4580-4134A>G)
c.4244A>G (p.Glu1415Gly)
c.3761-4134A>G (n.3761-4134A>G)
c.3695A>G (p.Glu1232Gly)
c.5609A>G (p.Glu1870Gly)
c.5333A>G (p.Glu1778Gly)
9g.115046475T>GCA374630740TNCc.318-4134A>C
c.3215-4134A>C (n.3215-4134A>C)
c.3971A>C (p.Glu1324Ala)
c.2003A>C (p.Glu668Ala)
c.659A>C (p.Glu220Ala)
c.4018A>C
c.5060A>C (p.Glu1687Ala)
c.4514A>C (p.Glu1505Ala)
c.4307-4134A>C (n.4307-4134A>C)
n.378A>C
n.253-4134A>C
n.40-4134A>C
c.747A>C
c.4787A>C (p.Glu1596Ala)
c.4034-4134A>C (n.4034-4134A>C)
c.3422A>C (p.Glu1141Ala)
c.5336A>C (p.Glu1779Ala)
c.3488-4134A>C (n.3488-4134A>C)
c.5063A>C (p.Glu1688Ala)
c.4517A>C (p.Glu1506Ala)
c.4580-4134A>C (n.4580-4134A>C)
c.4244A>C (p.Glu1415Ala)
c.3761-4134A>C (n.3761-4134A>C)
c.3695A>C (p.Glu1232Ala)
c.5609A>C (p.Glu1870Ala)
c.5333A>C (p.Glu1778Ala)
9g.115046476C>ACA374630742TNCc.318-4135G>T
c.3215-4135G>T (n.3215-4135G>T)
c.3970G>T (p.Glu1324Ter)
c.2002G>T (p.Glu668Ter)
c.658G>T (p.Glu220Ter)
c.4017G>T
c.5059G>T (p.Glu1687Ter)
c.4513G>T (p.Glu1505Ter)
c.4307-4135G>T (n.4307-4135G>T)
n.377G>T
n.253-4135G>T
n.40-4135G>T
c.746G>T
c.4786G>T (p.Glu1596Ter)
c.4034-4135G>T (n.4034-4135G>T)
c.3421G>T (p.Glu1141Ter)
c.5335G>T (p.Glu1779Ter)
c.3488-4135G>T (n.3488-4135G>T)
c.5062G>T (p.Glu1688Ter)
c.4516G>T (p.Glu1506Ter)
c.4580-4135G>T (n.4580-4135G>T)
c.4243G>T (p.Glu1415Ter)
c.3761-4135G>T (n.3761-4135G>T)
c.3694G>T (p.Glu1232Ter)
c.5608G>T (p.Glu1870Ter)
c.5332G>T (p.Glu1778Ter)
 gnomAD v4
9g.115046476C>GCA374630744TNCc.318-4135G>C
c.3215-4135G>C (n.3215-4135G>C)
c.3970G>C (p.Glu1324Gln)
c.2002G>C (p.Glu668Gln)
c.658G>C (p.Glu220Gln)
c.4017G>C
c.5059G>C (p.Glu1687Gln)
c.4513G>C (p.Glu1505Gln)
c.4307-4135G>C (n.4307-4135G>C)
n.377G>C
n.253-4135G>C
n.40-4135G>C
c.746G>C
c.4786G>C (p.Glu1596Gln)
c.4034-4135G>C (n.4034-4135G>C)
c.3421G>C (p.Glu1141Gln)
c.5335G>C (p.Glu1779Gln)
c.3488-4135G>C (n.3488-4135G>C)
c.5062G>C (p.Glu1688Gln)
c.4516G>C (p.Glu1506Gln)
c.4580-4135G>C (n.4580-4135G>C)
c.4243G>C (p.Glu1415Gln)
c.3761-4135G>C (n.3761-4135G>C)
c.3694G>C (p.Glu1232Gln)
c.5608G>C (p.Glu1870Gln)
c.5332G>C (p.Glu1778Gln)
9g.115046476C>TCA374630746TNCc.318-4135G>A
c.3215-4135G>A (n.3215-4135G>A)
c.3970G>A (p.Glu1324Lys)
c.2002G>A (p.Glu668Lys)
c.658G>A (p.Glu220Lys)
c.4017G>A
c.5059G>A (p.Glu1687Lys)
c.4513G>A (p.Glu1505Lys)
c.4307-4135G>A (n.4307-4135G>A)
n.377G>A
n.253-4135G>A
n.40-4135G>A
c.746G>A
c.4786G>A (p.Glu1596Lys)
c.4034-4135G>A (n.4034-4135G>A)
c.3421G>A (p.Glu1141Lys)
c.5335G>A (p.Glu1779Lys)
c.3488-4135G>A (n.3488-4135G>A)
c.5062G>A (p.Glu1688Lys)
c.4516G>A (p.Glu1506Lys)
c.4580-4135G>A (n.4580-4135G>A)
c.4243G>A (p.Glu1415Lys)
c.3761-4135G>A (n.3761-4135G>A)
c.3694G>A (p.Glu1232Lys)
c.5608G>A (p.Glu1870Lys)
c.5332G>A (p.Glu1778Lys)
 gnomAD v4 COSMIC
9g.115046477G>ACA466912383TNCc.318-4136C>T
c.3215-4136C>T (n.3215-4136C>T)
c.3969C>T (p.Tyr1323=)
c.2001C>T (p.Tyr667=)
c.657C>T (p.Tyr219=)
c.4016C>T
c.5058C>T (p.Tyr1686=)
c.4512C>T (p.Tyr1504=)
c.4307-4136C>T (n.4307-4136C>T)
n.376C>T
n.253-4136C>T
n.40-4136C>T
c.745C>T
c.4785C>T (p.Tyr1595=)
c.4034-4136C>T (n.4034-4136C>T)
c.3420C>T (p.Tyr1140=)
c.5334C>T (p.Tyr1778=)
c.3488-4136C>T (n.3488-4136C>T)
c.5061C>T (p.Tyr1687=)
c.4515C>T (p.Tyr1505=)
c.4580-4136C>T (n.4580-4136C>T)
c.4242C>T (p.Tyr1414=)
c.3761-4136C>T (n.3761-4136C>T)
c.3693C>T (p.Tyr1231=)
c.5607C>T (p.Tyr1869=)
c.5331C>T (p.Tyr1777=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115046477G>CCA374630748TNCc.318-4136C>G
c.3215-4136C>G (n.3215-4136C>G)
c.3969C>G (p.Tyr1323Ter)
c.2001C>G (p.Tyr667Ter)
c.657C>G (p.Tyr219Ter)
c.4016C>G
c.5058C>G (p.Tyr1686Ter)
c.4512C>G (p.Tyr1504Ter)
c.4307-4136C>G (n.4307-4136C>G)
n.376C>G
n.253-4136C>G
n.40-4136C>G
c.745C>G
c.4785C>G (p.Tyr1595Ter)
c.4034-4136C>G (n.4034-4136C>G)
c.3420C>G (p.Tyr1140Ter)
c.5334C>G (p.Tyr1778Ter)
c.3488-4136C>G (n.3488-4136C>G)
c.5061C>G (p.Tyr1687Ter)
c.4515C>G (p.Tyr1505Ter)
c.4580-4136C>G (n.4580-4136C>G)
c.4242C>G (p.Tyr1414Ter)
c.3761-4136C>G (n.3761-4136C>G)
c.3693C>G (p.Tyr1231Ter)
c.5607C>G (p.Tyr1869Ter)
c.5331C>G (p.Tyr1777Ter)
9g.115046477G=CA1874118883TNCc.318-4136C=
c.3215-4136C= (n.3215-4136C=)
c.3969C= (p.Tyr1323=)
c.2001C= (p.Tyr667=)
c.657C= (p.Tyr219=)
c.4016C=
c.5058C= (p.Tyr1686=)
c.4512C= (p.Tyr1504=)
c.4307-4136C= (n.4307-4136C=)
n.376C=
n.253-4136C=
n.40-4136C=
c.745C=
c.4785C= (p.Tyr1595=)
c.4034-4136C= (n.4034-4136C=)
c.3420C= (p.Tyr1140=)
c.5334C= (p.Tyr1778=)
c.3488-4136C= (n.3488-4136C=)
c.5061C= (p.Tyr1687=)
c.4515C= (p.Tyr1505=)
c.4580-4136C= (n.4580-4136C=)
c.4242C= (p.Tyr1414=)
c.3761-4136C= (n.3761-4136C=)
c.3693C= (p.Tyr1231=)
c.5607C= (p.Tyr1869=)
c.5331C= (p.Tyr1777=)
9g.115046477G>TCA374630749TNCc.318-4136C>A
c.3215-4136C>A (n.3215-4136C>A)
c.3969C>A (p.Tyr1323Ter)
c.2001C>A (p.Tyr667Ter)
c.657C>A (p.Tyr219Ter)
c.4016C>A
c.5058C>A (p.Tyr1686Ter)
c.4512C>A (p.Tyr1504Ter)
c.4307-4136C>A (n.4307-4136C>A)
n.376C>A
n.253-4136C>A
n.40-4136C>A
c.745C>A
c.4785C>A (p.Tyr1595Ter)
c.4034-4136C>A (n.4034-4136C>A)
c.3420C>A (p.Tyr1140Ter)
c.5334C>A (p.Tyr1778Ter)
c.3488-4136C>A (n.3488-4136C>A)
c.5061C>A (p.Tyr1687Ter)
c.4515C>A (p.Tyr1505Ter)
c.4580-4136C>A (n.4580-4136C>A)
c.4242C>A (p.Tyr1414Ter)
c.3761-4136C>A (n.3761-4136C>A)
c.3693C>A (p.Tyr1231Ter)
c.5607C>A (p.Tyr1869Ter)
c.5331C>A (p.Tyr1777Ter)
 dbSNP
9g.115046478T>ACA374630751TNCc.318-4137A>T
c.3215-4137A>T (n.3215-4137A>T)
c.3968A>T (p.Tyr1323Phe)
c.2000A>T (p.Tyr667Phe)
c.656A>T (p.Tyr219Phe)
c.4015A>T
c.5057A>T (p.Tyr1686Phe)
c.4511A>T (p.Tyr1504Phe)
c.4307-4137A>T (n.4307-4137A>T)
n.375A>T
n.253-4137A>T
n.40-4137A>T
c.744A>T
c.4784A>T (p.Tyr1595Phe)
c.4034-4137A>T (n.4034-4137A>T)
c.3419A>T (p.Tyr1140Phe)
c.5333A>T (p.Tyr1778Phe)
c.3488-4137A>T (n.3488-4137A>T)
c.5060A>T (p.Tyr1687Phe)
c.4514A>T (p.Tyr1505Phe)
c.4580-4137A>T (n.4580-4137A>T)
c.4241A>T (p.Tyr1414Phe)
c.3761-4137A>T (n.3761-4137A>T)
c.3692A>T (p.Tyr1231Phe)
c.5606A>T (p.Tyr1869Phe)
c.5330A>T (p.Tyr1777Phe)
 COSMIC
9g.115046478T>CCA374630753TNCc.318-4137A>G
c.3215-4137A>G (n.3215-4137A>G)
c.3968A>G (p.Tyr1323Cys)
c.2000A>G (p.Tyr667Cys)
c.656A>G (p.Tyr219Cys)
c.4015A>G
c.5057A>G (p.Tyr1686Cys)
c.4511A>G (p.Tyr1504Cys)
c.4307-4137A>G (n.4307-4137A>G)
n.375A>G
n.253-4137A>G
n.40-4137A>G
c.744A>G
c.4784A>G (p.Tyr1595Cys)
c.4034-4137A>G (n.4034-4137A>G)
c.3419A>G (p.Tyr1140Cys)
c.5333A>G (p.Tyr1778Cys)
c.3488-4137A>G (n.3488-4137A>G)
c.5060A>G (p.Tyr1687Cys)
c.4514A>G (p.Tyr1505Cys)
c.4580-4137A>G (n.4580-4137A>G)
c.4241A>G (p.Tyr1414Cys)
c.3761-4137A>G (n.3761-4137A>G)
c.3692A>G (p.Tyr1231Cys)
c.5606A>G (p.Tyr1869Cys)
c.5330A>G (p.Tyr1777Cys)
9g.115046478T>GCA374630755TNCc.318-4137A>C
c.3215-4137A>C (n.3215-4137A>C)
c.3968A>C (p.Tyr1323Ser)
c.2000A>C (p.Tyr667Ser)
c.656A>C (p.Tyr219Ser)
c.4015A>C
c.5057A>C (p.Tyr1686Ser)
c.4511A>C (p.Tyr1504Ser)
c.4307-4137A>C (n.4307-4137A>C)
n.375A>C
n.253-4137A>C
n.40-4137A>C
c.744A>C
c.4784A>C (p.Tyr1595Ser)
c.4034-4137A>C (n.4034-4137A>C)
c.3419A>C (p.Tyr1140Ser)
c.5333A>C (p.Tyr1778Ser)
c.3488-4137A>C (n.3488-4137A>C)
c.5060A>C (p.Tyr1687Ser)
c.4514A>C (p.Tyr1505Ser)
c.4580-4137A>C (n.4580-4137A>C)
c.4241A>C (p.Tyr1414Ser)
c.3761-4137A>C (n.3761-4137A>C)
c.3692A>C (p.Tyr1231Ser)
c.5606A>C (p.Tyr1869Ser)
c.5330A>C (p.Tyr1777Ser)
9g.115046479A>CCA374630757TNCc.318-4138T>G
c.3215-4138T>G (n.3215-4138T>G)
c.3967T>G (p.Tyr1323Asp)
c.1999T>G (p.Tyr667Asp)
c.655T>G (p.Tyr219Asp)
c.4014T>G
c.5056T>G (p.Tyr1686Asp)
c.4510T>G (p.Tyr1504Asp)
c.4307-4138T>G (n.4307-4138T>G)
n.374T>G
n.253-4138T>G
n.40-4138T>G
c.743T>G
c.4783T>G (p.Tyr1595Asp)
c.4034-4138T>G (n.4034-4138T>G)
c.3418T>G (p.Tyr1140Asp)
c.5332T>G (p.Tyr1778Asp)
c.3488-4138T>G (n.3488-4138T>G)
c.5059T>G (p.Tyr1687Asp)
c.4513T>G (p.Tyr1505Asp)
c.4580-4138T>G (n.4580-4138T>G)
c.4240T>G (p.Tyr1414Asp)
c.3761-4138T>G (n.3761-4138T>G)
c.3691T>G (p.Tyr1231Asp)
c.5605T>G (p.Tyr1869Asp)
c.5329T>G (p.Tyr1777Asp)
9g.115046479A>GCA374630759TNCc.318-4138T>C
c.3215-4138T>C (n.3215-4138T>C)
c.3967T>C (p.Tyr1323His)
c.1999T>C (p.Tyr667His)
c.655T>C (p.Tyr219His)
c.4014T>C
c.5056T>C (p.Tyr1686His)
c.4510T>C (p.Tyr1504His)
c.4307-4138T>C (n.4307-4138T>C)
n.374T>C
n.253-4138T>C
n.40-4138T>C
c.743T>C
c.4783T>C (p.Tyr1595His)
c.4034-4138T>C (n.4034-4138T>C)
c.3418T>C (p.Tyr1140His)
c.5332T>C (p.Tyr1778His)
c.3488-4138T>C (n.3488-4138T>C)
c.5059T>C (p.Tyr1687His)
c.4513T>C (p.Tyr1505His)
c.4580-4138T>C (n.4580-4138T>C)
c.4240T>C (p.Tyr1414His)
c.3761-4138T>C (n.3761-4138T>C)
c.3691T>C (p.Tyr1231His)
c.5605T>C (p.Tyr1869His)
c.5329T>C (p.Tyr1777His)
9g.115046479A>TCA374630761TNCc.318-4138T>A
c.3215-4138T>A (n.3215-4138T>A)
c.3967T>A (p.Tyr1323Asn)
c.1999T>A (p.Tyr667Asn)
c.655T>A (p.Tyr219Asn)
c.4014T>A
c.5056T>A (p.Tyr1686Asn)
c.4510T>A (p.Tyr1504Asn)
c.4307-4138T>A (n.4307-4138T>A)
n.374T>A
n.253-4138T>A
n.40-4138T>A
c.743T>A
c.4783T>A (p.Tyr1595Asn)
c.4034-4138T>A (n.4034-4138T>A)
c.3418T>A (p.Tyr1140Asn)
c.5332T>A (p.Tyr1778Asn)
c.3488-4138T>A (n.3488-4138T>A)
c.5059T>A (p.Tyr1687Asn)
c.4513T>A (p.Tyr1505Asn)
c.4580-4138T>A (n.4580-4138T>A)
c.4240T>A (p.Tyr1414Asn)
c.3761-4138T>A (n.3761-4138T>A)
c.3691T>A (p.Tyr1231Asn)
c.5605T>A (p.Tyr1869Asn)
c.5329T>A (p.Tyr1777Asn)
9g.115046480T>ACA374630763TNCc.318-4139A>T
c.3215-4139A>T (n.3215-4139A>T)
c.3966A>T (p.Glu1322Asp)
c.1998A>T (p.Glu666Asp)
c.654A>T (p.Glu218Asp)
c.4013A>T
c.5055A>T (p.Glu1685Asp)
c.4509A>T (p.Glu1503Asp)
c.4307-4139A>T (n.4307-4139A>T)
n.373A>T
n.253-4139A>T
n.40-4139A>T
c.742A>T
c.4782A>T (p.Glu1594Asp)
c.4034-4139A>T (n.4034-4139A>T)
c.3417A>T (p.Glu1139Asp)
c.5331A>T (p.Glu1777Asp)
c.3488-4139A>T (n.3488-4139A>T)
c.5058A>T (p.Glu1686Asp)
c.4512A>T (p.Glu1504Asp)
c.4580-4139A>T (n.4580-4139A>T)
c.4239A>T (p.Glu1413Asp)
c.3761-4139A>T (n.3761-4139A>T)
c.3690A>T (p.Glu1230Asp)
c.5604A>T (p.Glu1868Asp)
c.5328A>T (p.Glu1776Asp)
9g.115046480T>CCA466912386TNCc.318-4139A>G
c.3215-4139A>G (n.3215-4139A>G)
c.3966A>G (p.Glu1322=)
c.1998A>G (p.Glu666=)
c.654A>G (p.Glu218=)
c.4013A>G
c.5055A>G (p.Glu1685=)
c.4509A>G (p.Glu1503=)
c.4307-4139A>G (n.4307-4139A>G)
n.373A>G
n.253-4139A>G
n.40-4139A>G
c.742A>G
c.4782A>G (p.Glu1594=)
c.4034-4139A>G (n.4034-4139A>G)
c.3417A>G (p.Glu1139=)
c.5331A>G (p.Glu1777=)
c.3488-4139A>G (n.3488-4139A>G)
c.5058A>G (p.Glu1686=)
c.4512A>G (p.Glu1504=)
c.4580-4139A>G (n.4580-4139A>G)
c.4239A>G (p.Glu1413=)
c.3761-4139A>G (n.3761-4139A>G)
c.3690A>G (p.Glu1230=)
c.5604A>G (p.Glu1868=)
c.5328A>G (p.Glu1776=)
9g.115046480T>GCA374630764TNCc.318-4139A>C
c.3215-4139A>C (n.3215-4139A>C)
c.3966A>C (p.Glu1322Asp)
c.1998A>C (p.Glu666Asp)
c.654A>C (p.Glu218Asp)
c.4013A>C
c.5055A>C (p.Glu1685Asp)
c.4509A>C (p.Glu1503Asp)
c.4307-4139A>C (n.4307-4139A>C)
n.373A>C
n.253-4139A>C
n.40-4139A>C
c.742A>C
c.4782A>C (p.Glu1594Asp)
c.4034-4139A>C (n.4034-4139A>C)
c.3417A>C (p.Glu1139Asp)
c.5331A>C (p.Glu1777Asp)
c.3488-4139A>C (n.3488-4139A>C)
c.5058A>C (p.Glu1686Asp)
c.4512A>C (p.Glu1504Asp)
c.4580-4139A>C (n.4580-4139A>C)
c.4239A>C (p.Glu1413Asp)
c.3761-4139A>C (n.3761-4139A>C)
c.3690A>C (p.Glu1230Asp)
c.5604A>C (p.Glu1868Asp)
c.5328A>C (p.Glu1776Asp)
9g.115046481T>ACA374630766TNCc.318-4140A>T
c.3215-4140A>T (n.3215-4140A>T)
c.3965A>T (p.Glu1322Val)
c.1997A>T (p.Glu666Val)
c.653A>T (p.Glu218Val)
c.4012A>T
c.5054A>T (p.Glu1685Val)
c.4508A>T (p.Glu1503Val)
c.4307-4140A>T (n.4307-4140A>T)
n.372A>T
n.253-4140A>T
n.40-4140A>T
c.741A>T
c.4781A>T (p.Glu1594Val)
c.4034-4140A>T (n.4034-4140A>T)
c.3416A>T (p.Glu1139Val)
c.5330A>T (p.Glu1777Val)
c.3488-4140A>T (n.3488-4140A>T)
c.5057A>T (p.Glu1686Val)
c.4511A>T (p.Glu1504Val)
c.4580-4140A>T (n.4580-4140A>T)
c.4238A>T (p.Glu1413Val)
c.3761-4140A>T (n.3761-4140A>T)
c.3689A>T (p.Glu1230Val)
c.5603A>T (p.Glu1868Val)
c.5327A>T (p.Glu1776Val)
9g.115046481T>CCA374630769TNCc.318-4140A>G
c.3215-4140A>G (n.3215-4140A>G)
c.3965A>G (p.Glu1322Gly)
c.1997A>G (p.Glu666Gly)
c.653A>G (p.Glu218Gly)
c.4012A>G
c.5054A>G (p.Glu1685Gly)
c.4508A>G (p.Glu1503Gly)
c.4307-4140A>G (n.4307-4140A>G)
n.372A>G
n.253-4140A>G
n.40-4140A>G
c.741A>G
c.4781A>G (p.Glu1594Gly)
c.4034-4140A>G (n.4034-4140A>G)
c.3416A>G (p.Glu1139Gly)
c.5330A>G (p.Glu1777Gly)
c.3488-4140A>G (n.3488-4140A>G)
c.5057A>G (p.Glu1686Gly)
c.4511A>G (p.Glu1504Gly)
c.4580-4140A>G (n.4580-4140A>G)
c.4238A>G (p.Glu1413Gly)
c.3761-4140A>G (n.3761-4140A>G)
c.3689A>G (p.Glu1230Gly)
c.5603A>G (p.Glu1868Gly)
c.5327A>G (p.Glu1776Gly)
9g.115046481T>GCA374630770TNCc.318-4140A>C
c.3215-4140A>C (n.3215-4140A>C)
c.3965A>C (p.Glu1322Ala)
c.1997A>C (p.Glu666Ala)
c.653A>C (p.Glu218Ala)
c.4012A>C
c.5054A>C (p.Glu1685Ala)
c.4508A>C (p.Glu1503Ala)
c.4307-4140A>C (n.4307-4140A>C)
n.372A>C
n.253-4140A>C
n.40-4140A>C
c.741A>C
c.4781A>C (p.Glu1594Ala)
c.4034-4140A>C (n.4034-4140A>C)
c.3416A>C (p.Glu1139Ala)
c.5330A>C (p.Glu1777Ala)
c.3488-4140A>C (n.3488-4140A>C)
c.5057A>C (p.Glu1686Ala)
c.4511A>C (p.Glu1504Ala)
c.4580-4140A>C (n.4580-4140A>C)
c.4238A>C (p.Glu1413Ala)
c.3761-4140A>C (n.3761-4140A>C)
c.3689A>C (p.Glu1230Ala)
c.5603A>C (p.Glu1868Ala)
c.5327A>C (p.Glu1776Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.115046481T=CA1874118884TNCc.318-4140A=
c.3215-4140A= (n.3215-4140A=)
c.3965A= (p.Glu1322=)
c.1997A= (p.Glu666=)
c.653A= (p.Glu218=)
c.4012A=
c.5054A= (p.Glu1685=)
c.4508A= (p.Glu1503=)
c.4307-4140A= (n.4307-4140A=)
n.372A=
n.253-4140A=
n.40-4140A=
c.741A=
c.4781A= (p.Glu1594=)
c.4034-4140A= (n.4034-4140A=)
c.3416A= (p.Glu1139=)
c.5330A= (p.Glu1777=)
c.3488-4140A= (n.3488-4140A=)
c.5057A= (p.Glu1686=)
c.4511A= (p.Glu1504=)
c.4580-4140A= (n.4580-4140A=)
c.4238A= (p.Glu1413=)
c.3761-4140A= (n.3761-4140A=)
c.3689A= (p.Glu1230=)
c.5603A= (p.Glu1868=)
c.5327A= (p.Glu1776=)
9g.115046482C>ACA374630773TNCc.318-4141G>T
c.3215-4141G>T (n.3215-4141G>T)
c.3964G>T (p.Glu1322Ter)
c.1996G>T (p.Glu666Ter)
c.652G>T (p.Glu218Ter)
c.4011G>T
c.5053G>T (p.Glu1685Ter)
c.4507G>T (p.Glu1503Ter)
c.4307-4141G>T (n.4307-4141G>T)
n.371G>T
n.253-4141G>T
n.40-4141G>T
c.740G>T
c.4780G>T (p.Glu1594Ter)
c.4034-4141G>T (n.4034-4141G>T)
c.3415G>T (p.Glu1139Ter)
c.5329G>T (p.Glu1777Ter)
c.3488-4141G>T (n.3488-4141G>T)
c.5056G>T (p.Glu1686Ter)
c.4510G>T (p.Glu1504Ter)
c.4580-4141G>T (n.4580-4141G>T)
c.4237G>T (p.Glu1413Ter)
c.3761-4141G>T (n.3761-4141G>T)
c.3688G>T (p.Glu1230Ter)
c.5602G>T (p.Glu1868Ter)
c.5326G>T (p.Glu1776Ter)
 COSMIC
9g.115046482C>GCA374630775TNCc.318-4141G>C
c.3215-4141G>C (n.3215-4141G>C)
c.3964G>C (p.Glu1322Gln)
c.1996G>C (p.Glu666Gln)
c.652G>C (p.Glu218Gln)
c.4011G>C
c.5053G>C (p.Glu1685Gln)
c.4507G>C (p.Glu1503Gln)
c.4307-4141G>C (n.4307-4141G>C)
n.371G>C
n.253-4141G>C
n.40-4141G>C
c.740G>C
c.4780G>C (p.Glu1594Gln)
c.4034-4141G>C (n.4034-4141G>C)
c.3415G>C (p.Glu1139Gln)
c.5329G>C (p.Glu1777Gln)
c.3488-4141G>C (n.3488-4141G>C)
c.5056G>C (p.Glu1686Gln)
c.4510G>C (p.Glu1504Gln)
c.4580-4141G>C (n.4580-4141G>C)
c.4237G>C (p.Glu1413Gln)
c.3761-4141G>C (n.3761-4141G>C)
c.3688G>C (p.Glu1230Gln)
c.5602G>C (p.Glu1868Gln)
c.5326G>C (p.Glu1776Gln)
9g.115046482C>TCA374630777TNCc.318-4141G>A
c.3215-4141G>A (n.3215-4141G>A)
c.3964G>A (p.Glu1322Lys)
c.1996G>A (p.Glu666Lys)
c.652G>A (p.Glu218Lys)
c.4011G>A
c.5053G>A (p.Glu1685Lys)
c.4507G>A (p.Glu1503Lys)
c.4307-4141G>A (n.4307-4141G>A)
n.371G>A
n.253-4141G>A
n.40-4141G>A
c.740G>A
c.4780G>A (p.Glu1594Lys)
c.4034-4141G>A (n.4034-4141G>A)
c.3415G>A (p.Glu1139Lys)
c.5329G>A (p.Glu1777Lys)
c.3488-4141G>A (n.3488-4141G>A)
c.5056G>A (p.Glu1686Lys)
c.4510G>A (p.Glu1504Lys)
c.4580-4141G>A (n.4580-4141G>A)
c.4237G>A (p.Glu1413Lys)
c.3761-4141G>A (n.3761-4141G>A)
c.3688G>A (p.Glu1230Lys)
c.5602G>A (p.Glu1868Lys)
c.5326G>A (p.Glu1776Lys)
 COSMIC
9g.115046483A>CCA466912391TNCc.318-4142T>G
c.3215-4142T>G (n.3215-4142T>G)
c.3963T>G (p.Thr1321=)
c.1995T>G (p.Thr665=)
c.651T>G (p.Thr217=)
c.4010T>G
c.5052T>G (p.Thr1684=)
c.4506T>G (p.Thr1502=)
c.4307-4142T>G (n.4307-4142T>G)
n.370T>G
n.253-4142T>G
n.40-4142T>G
c.739T>G
c.4779T>G (p.Thr1593=)
c.4034-4142T>G (n.4034-4142T>G)
c.3414T>G (p.Thr1138=)
c.5328T>G (p.Thr1776=)
c.3488-4142T>G (n.3488-4142T>G)
c.5055T>G (p.Thr1685=)
c.4509T>G (p.Thr1503=)
c.4580-4142T>G (n.4580-4142T>G)
c.4236T>G (p.Thr1412=)
c.3761-4142T>G (n.3761-4142T>G)
c.3687T>G (p.Thr1229=)
c.5601T>G (p.Thr1867=)
c.5325T>G (p.Thr1775=)
9g.115046483A>GCA466912390TNCc.318-4142T>C
c.3215-4142T>C (n.3215-4142T>C)
c.3963T>C (p.Thr1321=)
c.1995T>C (p.Thr665=)
c.651T>C (p.Thr217=)
c.4010T>C
c.5052T>C (p.Thr1684=)
c.4506T>C (p.Thr1502=)
c.4307-4142T>C (n.4307-4142T>C)
n.370T>C
n.253-4142T>C
n.40-4142T>C
c.739T>C
c.4779T>C (p.Thr1593=)
c.4034-4142T>C (n.4034-4142T>C)
c.3414T>C (p.Thr1138=)
c.5328T>C (p.Thr1776=)
c.3488-4142T>C (n.3488-4142T>C)
c.5055T>C (p.Thr1685=)
c.4509T>C (p.Thr1503=)
c.4580-4142T>C (n.4580-4142T>C)
c.4236T>C (p.Thr1412=)
c.3761-4142T>C (n.3761-4142T>C)
c.3687T>C (p.Thr1229=)
c.5601T>C (p.Thr1867=)
c.5325T>C (p.Thr1775=)
9g.115046483A>TCA466912389TNCc.318-4142T>A
c.3215-4142T>A (n.3215-4142T>A)
c.3963T>A (p.Thr1321=)
c.1995T>A (p.Thr665=)
c.651T>A (p.Thr217=)
c.4010T>A
c.5052T>A (p.Thr1684=)
c.4506T>A (p.Thr1502=)
c.4307-4142T>A (n.4307-4142T>A)
n.370T>A
n.253-4142T>A
n.40-4142T>A
c.739T>A
c.4779T>A (p.Thr1593=)
c.4034-4142T>A (n.4034-4142T>A)
c.3414T>A (p.Thr1138=)
c.5328T>A (p.Thr1776=)
c.3488-4142T>A (n.3488-4142T>A)
c.5055T>A (p.Thr1685=)
c.4509T>A (p.Thr1503=)
c.4580-4142T>A (n.4580-4142T>A)
c.4236T>A (p.Thr1412=)
c.3761-4142T>A (n.3761-4142T>A)
c.3687T>A (p.Thr1229=)
c.5601T>A (p.Thr1867=)
c.5325T>A (p.Thr1775=)
9g.115046484G>ACA374630779TNCc.318-4143C>T
c.3215-4143C>T (n.3215-4143C>T)
c.3962C>T (p.Thr1321Ile)
c.1994C>T (p.Thr665Ile)
c.650C>T (p.Thr217Ile)
c.4009C>T
c.5051C>T (p.Thr1684Ile)
c.4505C>T (p.Thr1502Ile)
c.4307-4143C>T (n.4307-4143C>T)
n.369C>T
n.253-4143C>T
n.40-4143C>T
c.738C>T
c.4778C>T (p.Thr1593Ile)
c.4034-4143C>T (n.4034-4143C>T)
c.3413C>T (p.Thr1138Ile)
c.5327C>T (p.Thr1776Ile)
c.3488-4143C>T (n.3488-4143C>T)
c.5054C>T (p.Thr1685Ile)
c.4508C>T (p.Thr1503Ile)
c.4580-4143C>T (n.4580-4143C>T)
c.4235C>T (p.Thr1412Ile)
c.3761-4143C>T (n.3761-4143C>T)
c.3686C>T (p.Thr1229Ile)
c.5600C>T (p.Thr1867Ile)
c.5324C>T (p.Thr1775Ile)
 dbSNP
9g.115046484G>CCA374630781TNCc.318-4143C>G
c.3215-4143C>G (n.3215-4143C>G)
c.3962C>G (p.Thr1321Ser)
c.1994C>G (p.Thr665Ser)
c.650C>G (p.Thr217Ser)
c.4009C>G
c.5051C>G (p.Thr1684Ser)
c.4505C>G (p.Thr1502Ser)
c.4307-4143C>G (n.4307-4143C>G)
n.369C>G
n.253-4143C>G
n.40-4143C>G
c.738C>G
c.4778C>G (p.Thr1593Ser)
c.4034-4143C>G (n.4034-4143C>G)
c.3413C>G (p.Thr1138Ser)
c.5327C>G (p.Thr1776Ser)
c.3488-4143C>G (n.3488-4143C>G)
c.5054C>G (p.Thr1685Ser)
c.4508C>G (p.Thr1503Ser)
c.4580-4143C>G (n.4580-4143C>G)
c.4235C>G (p.Thr1412Ser)
c.3761-4143C>G (n.3761-4143C>G)
c.3686C>G (p.Thr1229Ser)
c.5600C>G (p.Thr1867Ser)
c.5324C>G (p.Thr1775Ser)
9g.115046484G=CA1874118885TNCc.318-4143C=
c.3215-4143C= (n.3215-4143C=)
c.3962C= (p.Thr1321=)
c.1994C= (p.Thr665=)
c.650C= (p.Thr217=)
c.4009C=
c.5051C= (p.Thr1684=)
c.4505C= (p.Thr1502=)
c.4307-4143C= (n.4307-4143C=)
n.369C=
n.253-4143C=
n.40-4143C=
c.738C=
c.4778C= (p.Thr1593=)
c.4034-4143C= (n.4034-4143C=)
c.3413C= (p.Thr1138=)
c.5327C= (p.Thr1776=)
c.3488-4143C= (n.3488-4143C=)
c.5054C= (p.Thr1685=)
c.4508C= (p.Thr1503=)
c.4580-4143C= (n.4580-4143C=)
c.4235C= (p.Thr1412=)
c.3761-4143C= (n.3761-4143C=)
c.3686C= (p.Thr1229=)
c.5600C= (p.Thr1867=)
c.5324C= (p.Thr1775=)
9g.115046484G>TCA5207767TNCc.318-4143C>A
c.3215-4143C>A (n.3215-4143C>A)
c.3962C>A (p.Thr1321Asn)
c.1994C>A (p.Thr665Asn)
c.650C>A (p.Thr217Asn)
c.4009C>A
c.5051C>A (p.Thr1684Asn)
c.4505C>A (p.Thr1502Asn)
c.4307-4143C>A (n.4307-4143C>A)
n.369C>A
n.253-4143C>A
n.40-4143C>A
c.738C>A
c.4778C>A (p.Thr1593Asn)
c.4034-4143C>A (n.4034-4143C>A)
c.3413C>A (p.Thr1138Asn)
c.5327C>A (p.Thr1776Asn)
c.3488-4143C>A (n.3488-4143C>A)
c.5054C>A (p.Thr1685Asn)
c.4508C>A (p.Thr1503Asn)
c.4580-4143C>A (n.4580-4143C>A)
c.4235C>A (p.Thr1412Asn)
c.3761-4143C>A (n.3761-4143C>A)
c.3686C>A (p.Thr1229Asn)
c.5600C>A (p.Thr1867Asn)
c.5324C>A (p.Thr1775Asn)
 dbSNP ExAC gnomAD v2
9g.115046485T>ACA374630784TNCc.318-4144A>T
c.3215-4144A>T (n.3215-4144A>T)
c.3961A>T (p.Thr1321Ser)
c.1993A>T (p.Thr665Ser)
c.649A>T (p.Thr217Ser)
c.4008A>T
c.5050A>T (p.Thr1684Ser)
c.4504A>T (p.Thr1502Ser)
c.4307-4144A>T (n.4307-4144A>T)
n.368A>T
n.253-4144A>T
n.40-4144A>T
c.737A>T
c.4777A>T (p.Thr1593Ser)
c.4034-4144A>T (n.4034-4144A>T)
c.3412A>T (p.Thr1138Ser)
c.5326A>T (p.Thr1776Ser)
c.3488-4144A>T (n.3488-4144A>T)
c.5053A>T (p.Thr1685Ser)
c.4507A>T (p.Thr1503Ser)
c.4580-4144A>T (n.4580-4144A>T)
c.4234A>T (p.Thr1412Ser)
c.3761-4144A>T (n.3761-4144A>T)
c.3685A>T (p.Thr1229Ser)
c.5599A>T (p.Thr1867Ser)
c.5323A>T (p.Thr1775Ser)
9g.115046485T>CCA374630786TNCc.318-4144A>G
c.3215-4144A>G (n.3215-4144A>G)
c.3961A>G (p.Thr1321Ala)
c.1993A>G (p.Thr665Ala)
c.649A>G (p.Thr217Ala)
c.4008A>G
c.5050A>G (p.Thr1684Ala)
c.4504A>G (p.Thr1502Ala)
c.4307-4144A>G (n.4307-4144A>G)
n.368A>G
n.253-4144A>G
n.40-4144A>G
c.737A>G
c.4777A>G (p.Thr1593Ala)
c.4034-4144A>G (n.4034-4144A>G)
c.3412A>G (p.Thr1138Ala)
c.5326A>G (p.Thr1776Ala)
c.3488-4144A>G (n.3488-4144A>G)
c.5053A>G (p.Thr1685Ala)
c.4507A>G (p.Thr1503Ala)
c.4580-4144A>G (n.4580-4144A>G)
c.4234A>G (p.Thr1412Ala)
c.3761-4144A>G (n.3761-4144A>G)
c.3685A>G (p.Thr1229Ala)
c.5599A>G (p.Thr1867Ala)
c.5323A>G (p.Thr1775Ala)
 gnomAD v4
9g.115046485T>GCA374630788TNCc.318-4144A>C
c.3215-4144A>C (n.3215-4144A>C)
c.3961A>C (p.Thr1321Pro)
c.1993A>C (p.Thr665Pro)
c.649A>C (p.Thr217Pro)
c.4008A>C
c.5050A>C (p.Thr1684Pro)
c.4504A>C (p.Thr1502Pro)
c.4307-4144A>C (n.4307-4144A>C)
n.368A>C
n.253-4144A>C
n.40-4144A>C
c.737A>C
c.4777A>C (p.Thr1593Pro)
c.4034-4144A>C (n.4034-4144A>C)
c.3412A>C (p.Thr1138Pro)
c.5326A>C (p.Thr1776Pro)
c.3488-4144A>C (n.3488-4144A>C)
c.5053A>C (p.Thr1685Pro)
c.4507A>C (p.Thr1503Pro)
c.4580-4144A>C (n.4580-4144A>C)
c.4234A>C (p.Thr1412Pro)
c.3761-4144A>C (n.3761-4144A>C)
c.3685A>C (p.Thr1229Pro)
c.5599A>C (p.Thr1867Pro)
c.5323A>C (p.Thr1775Pro)
9g.115046486A>CCA466912397TNCc.318-4145T>G
c.3215-4145T>G (n.3215-4145T>G)
c.3960T>G (p.Ala1320=)
c.1992T>G (p.Ala664=)
c.648T>G (p.Ala216=)
c.4007T>G
c.5049T>G (p.Ala1683=)
c.4503T>G (p.Ala1501=)
c.4307-4145T>G (n.4307-4145T>G)
n.367T>G
n.253-4145T>G
n.40-4145T>G
c.736T>G
c.4776T>G (p.Ala1592=)
c.4034-4145T>G (n.4034-4145T>G)
c.3411T>G (p.Ala1137=)
c.5325T>G (p.Ala1775=)
c.3488-4145T>G (n.3488-4145T>G)
c.5052T>G (p.Ala1684=)
c.4506T>G (p.Ala1502=)
c.4580-4145T>G (n.4580-4145T>G)
c.4233T>G (p.Ala1411=)
c.3761-4145T>G (n.3761-4145T>G)
c.3684T>G (p.Ala1228=)
c.5598T>G (p.Ala1866=)
c.5322T>G (p.Ala1774=)
9g.115046486A>GCA466912395TNCc.318-4145T>C
c.3215-4145T>C (n.3215-4145T>C)
c.3960T>C (p.Ala1320=)
c.1992T>C (p.Ala664=)
c.648T>C (p.Ala216=)
c.4007T>C
c.5049T>C (p.Ala1683=)
c.4503T>C (p.Ala1501=)
c.4307-4145T>C (n.4307-4145T>C)
n.367T>C
n.253-4145T>C
n.40-4145T>C
c.736T>C
c.4776T>C (p.Ala1592=)
c.4034-4145T>C (n.4034-4145T>C)
c.3411T>C (p.Ala1137=)
c.5325T>C (p.Ala1775=)
c.3488-4145T>C (n.3488-4145T>C)
c.5052T>C (p.Ala1684=)
c.4506T>C (p.Ala1502=)
c.4580-4145T>C (n.4580-4145T>C)
c.4233T>C (p.Ala1411=)
c.3761-4145T>C (n.3761-4145T>C)
c.3684T>C (p.Ala1228=)
c.5598T>C (p.Ala1866=)
c.5322T>C (p.Ala1774=)
9g.115046486A>TCA466912394TNCc.318-4145T>A
c.3215-4145T>A (n.3215-4145T>A)
c.3960T>A (p.Ala1320=)
c.1992T>A (p.Ala664=)
c.648T>A (p.Ala216=)
c.4007T>A
c.5049T>A (p.Ala1683=)
c.4503T>A (p.Ala1501=)
c.4307-4145T>A (n.4307-4145T>A)
n.367T>A
n.253-4145T>A
n.40-4145T>A
c.736T>A
c.4776T>A (p.Ala1592=)
c.4034-4145T>A (n.4034-4145T>A)
c.3411T>A (p.Ala1137=)
c.5325T>A (p.Ala1775=)
c.3488-4145T>A (n.3488-4145T>A)
c.5052T>A (p.Ala1684=)
c.4506T>A (p.Ala1502=)
c.4580-4145T>A (n.4580-4145T>A)
c.4233T>A (p.Ala1411=)
c.3761-4145T>A (n.3761-4145T>A)
c.3684T>A (p.Ala1228=)
c.5598T>A (p.Ala1866=)
c.5322T>A (p.Ala1774=)
 gnomAD v4
9g.115046487G>ACA374630792TNCc.318-4146C>T
c.3215-4146C>T (n.3215-4146C>T)
c.3959C>T (p.Ala1320Val)
c.1991C>T (p.Ala664Val)
c.647C>T (p.Ala216Val)
c.4006C>T
c.5048C>T (p.Ala1683Val)
c.4502C>T (p.Ala1501Val)
c.4307-4146C>T (n.4307-4146C>T)
n.366C>T
n.253-4146C>T
n.40-4146C>T
c.735C>T
c.4775C>T (p.Ala1592Val)
c.4034-4146C>T (n.4034-4146C>T)
c.3410C>T (p.Ala1137Val)
c.5324C>T (p.Ala1775Val)
c.3488-4146C>T (n.3488-4146C>T)
c.5051C>T (p.Ala1684Val)
c.4505C>T (p.Ala1502Val)
c.4580-4146C>T (n.4580-4146C>T)
c.4232C>T (p.Ala1411Val)
c.3761-4146C>T (n.3761-4146C>T)
c.3683C>T (p.Ala1228Val)
c.5597C>T (p.Ala1866Val)
c.5321C>T (p.Ala1774Val)
9g.115046487G>CCA374630794TNCc.318-4146C>G
c.3215-4146C>G (n.3215-4146C>G)
c.3959C>G (p.Ala1320Gly)
c.1991C>G (p.Ala664Gly)
c.647C>G (p.Ala216Gly)
c.4006C>G
c.5048C>G (p.Ala1683Gly)
c.4502C>G (p.Ala1501Gly)
c.4307-4146C>G (n.4307-4146C>G)
n.366C>G
n.253-4146C>G
n.40-4146C>G
c.735C>G
c.4775C>G (p.Ala1592Gly)
c.4034-4146C>G (n.4034-4146C>G)
c.3410C>G (p.Ala1137Gly)
c.5324C>G (p.Ala1775Gly)
c.3488-4146C>G (n.3488-4146C>G)
c.5051C>G (p.Ala1684Gly)
c.4505C>G (p.Ala1502Gly)
c.4580-4146C>G (n.4580-4146C>G)
c.4232C>G (p.Ala1411Gly)
c.3761-4146C>G (n.3761-4146C>G)
c.3683C>G (p.Ala1228Gly)
c.5597C>G (p.Ala1866Gly)
c.5321C>G (p.Ala1774Gly)
9g.115046487G>TCA374630790TNCc.318-4146C>A
c.3215-4146C>A (n.3215-4146C>A)
c.3959C>A (p.Ala1320Asp)
c.1991C>A (p.Ala664Asp)
c.647C>A (p.Ala216Asp)
c.4006C>A
c.5048C>A (p.Ala1683Asp)
c.4502C>A (p.Ala1501Asp)
c.4307-4146C>A (n.4307-4146C>A)
n.366C>A
n.253-4146C>A
n.40-4146C>A
c.735C>A
c.4775C>A (p.Ala1592Asp)
c.4034-4146C>A (n.4034-4146C>A)
c.3410C>A (p.Ala1137Asp)
c.5324C>A (p.Ala1775Asp)
c.3488-4146C>A (n.3488-4146C>A)
c.5051C>A (p.Ala1684Asp)
c.4505C>A (p.Ala1502Asp)
c.4580-4146C>A (n.4580-4146C>A)
c.4232C>A (p.Ala1411Asp)
c.3761-4146C>A (n.3761-4146C>A)
c.3683C>A (p.Ala1228Asp)
c.5597C>A (p.Ala1866Asp)
c.5321C>A (p.Ala1774Asp)
9g.115046488C>ACA374630795TNCc.318-4147G>T
c.3215-4147G>T (n.3215-4147G>T)
c.3958G>T (p.Ala1320Ser)
c.1990G>T (p.Ala664Ser)
c.646G>T (p.Ala216Ser)
c.4005G>T
c.5047G>T (p.Ala1683Ser)
c.4501G>T (p.Ala1501Ser)
c.4307-4147G>T (n.4307-4147G>T)
n.365G>T
n.253-4147G>T
n.40-4147G>T
c.734G>T
c.4774G>T (p.Ala1592Ser)
c.4034-4147G>T (n.4034-4147G>T)
c.3409G>T (p.Ala1137Ser)
c.5323G>T (p.Ala1775Ser)
c.3488-4147G>T (n.3488-4147G>T)
c.5050G>T (p.Ala1684Ser)
c.4504G>T (p.Ala1502Ser)
c.4580-4147G>T (n.4580-4147G>T)
c.4231G>T (p.Ala1411Ser)
c.3761-4147G>T (n.3761-4147G>T)
c.3682G>T (p.Ala1228Ser)
c.5596G>T (p.Ala1866Ser)
c.5320G>T (p.Ala1774Ser)
 gnomAD v4
9g.115046488C>GCA374630796TNCc.318-4147G>C
c.3215-4147G>C (n.3215-4147G>C)
c.3958G>C (p.Ala1320Pro)
c.1990G>C (p.Ala664Pro)
c.646G>C (p.Ala216Pro)
c.4005G>C
c.5047G>C (p.Ala1683Pro)
c.4501G>C (p.Ala1501Pro)
c.4307-4147G>C (n.4307-4147G>C)
n.365G>C
n.253-4147G>C
n.40-4147G>C
c.734G>C
c.4774G>C (p.Ala1592Pro)
c.4034-4147G>C (n.4034-4147G>C)
c.3409G>C (p.Ala1137Pro)
c.5323G>C (p.Ala1775Pro)
c.3488-4147G>C (n.3488-4147G>C)
c.5050G>C (p.Ala1684Pro)
c.4504G>C (p.Ala1502Pro)
c.4580-4147G>C (n.4580-4147G>C)
c.4231G>C (p.Ala1411Pro)
c.3761-4147G>C (n.3761-4147G>C)
c.3682G>C (p.Ala1228Pro)
c.5596G>C (p.Ala1866Pro)
c.5320G>C (p.Ala1774Pro)
 gnomAD v4
9g.115046488C>TCA374630798TNCc.318-4147G>A
c.3215-4147G>A (n.3215-4147G>A)
c.3958G>A (p.Ala1320Thr)
c.1990G>A (p.Ala664Thr)
c.646G>A (p.Ala216Thr)
c.4005G>A
c.5047G>A (p.Ala1683Thr)
c.4501G>A (p.Ala1501Thr)
c.4307-4147G>A (n.4307-4147G>A)
n.365G>A
n.253-4147G>A
n.40-4147G>A
c.734G>A
c.4774G>A (p.Ala1592Thr)
c.4034-4147G>A (n.4034-4147G>A)
c.3409G>A (p.Ala1137Thr)
c.5323G>A (p.Ala1775Thr)
c.3488-4147G>A (n.3488-4147G>A)
c.5050G>A (p.Ala1684Thr)
c.4504G>A (p.Ala1502Thr)
c.4580-4147G>A (n.4580-4147G>A)
c.4231G>A (p.Ala1411Thr)
c.3761-4147G>A (n.3761-4147G>A)
c.3682G>A (p.Ala1228Thr)
c.5596G>A (p.Ala1866Thr)
c.5320G>A (p.Ala1774Thr)
9g.115046489C>ACA374630800TNCc.318-4148G>T
c.3215-4148G>T (n.3215-4148G>T)
c.3957G>T (p.Glu1319Asp)
c.1989G>T (p.Glu663Asp)
c.645G>T (p.Glu215Asp)
c.4004G>T
c.5046G>T (p.Glu1682Asp)
c.4500G>T (p.Glu1500Asp)
c.4307-4148G>T (n.4307-4148G>T)
n.364G>T
n.253-4148G>T
n.40-4148G>T
c.733G>T
c.4773G>T (p.Glu1591Asp)
c.4034-4148G>T (n.4034-4148G>T)
c.3408G>T (p.Glu1136Asp)
c.5322G>T (p.Glu1774Asp)
c.3488-4148G>T (n.3488-4148G>T)
c.5049G>T (p.Glu1683Asp)
c.4503G>T (p.Glu1501Asp)
c.4580-4148G>T (n.4580-4148G>T)
c.4230G>T (p.Glu1410Asp)
c.3761-4148G>T (n.3761-4148G>T)
c.3681G>T (p.Glu1227Asp)
c.5595G>T (p.Glu1865Asp)
c.5319G>T (p.Glu1773Asp)
9g.115046489C>GCA374630802TNCc.318-4148G>C
c.3215-4148G>C (n.3215-4148G>C)
c.3957G>C (p.Glu1319Asp)
c.1989G>C (p.Glu663Asp)
c.645G>C (p.Glu215Asp)
c.4004G>C
c.5046G>C (p.Glu1682Asp)
c.4500G>C (p.Glu1500Asp)
c.4307-4148G>C (n.4307-4148G>C)
n.364G>C
n.253-4148G>C
n.40-4148G>C
c.733G>C
c.4773G>C (p.Glu1591Asp)
c.4034-4148G>C (n.4034-4148G>C)
c.3408G>C (p.Glu1136Asp)
c.5322G>C (p.Glu1774Asp)
c.3488-4148G>C (n.3488-4148G>C)
c.5049G>C (p.Glu1683Asp)
c.4503G>C (p.Glu1501Asp)
c.4580-4148G>C (n.4580-4148G>C)
c.4230G>C (p.Glu1410Asp)
c.3761-4148G>C (n.3761-4148G>C)
c.3681G>C (p.Glu1227Asp)
c.5595G>C (p.Glu1865Asp)
c.5319G>C (p.Glu1773Asp)
9g.115046489C>TCA466912399TNCc.318-4148G>A
c.3215-4148G>A (n.3215-4148G>A)
c.3957G>A (p.Glu1319=)
c.1989G>A (p.Glu663=)
c.645G>A (p.Glu215=)
c.4004G>A
c.5046G>A (p.Glu1682=)
c.4500G>A (p.Glu1500=)
c.4307-4148G>A (n.4307-4148G>A)
n.364G>A
n.253-4148G>A
n.40-4148G>A
c.733G>A
c.4773G>A (p.Glu1591=)
c.4034-4148G>A (n.4034-4148G>A)
c.3408G>A (p.Glu1136=)
c.5322G>A (p.Glu1774=)
c.3488-4148G>A (n.3488-4148G>A)
c.5049G>A (p.Glu1683=)
c.4503G>A (p.Glu1501=)
c.4580-4148G>A (n.4580-4148G>A)
c.4230G>A (p.Glu1410=)
c.3761-4148G>A (n.3761-4148G>A)
c.3681G>A (p.Glu1227=)
c.5595G>A (p.Glu1865=)
c.5319G>A (p.Glu1773=)
9g.115046490T>ACA374630804TNCc.318-4149A>T
c.3215-4149A>T (n.3215-4149A>T)
c.3956A>T (p.Glu1319Val)
c.1988A>T (p.Glu663Val)
c.644A>T (p.Glu215Val)
c.4003A>T
c.5045A>T (p.Glu1682Val)
c.4499A>T (p.Glu1500Val)
c.4307-4149A>T (n.4307-4149A>T)
n.363A>T
n.253-4149A>T
n.40-4149A>T
c.732A>T
c.4772A>T (p.Glu1591Val)
c.4034-4149A>T (n.4034-4149A>T)
c.3407A>T (p.Glu1136Val)
c.5321A>T (p.Glu1774Val)
c.3488-4149A>T (n.3488-4149A>T)
c.5048A>T (p.Glu1683Val)
c.4502A>T (p.Glu1501Val)
c.4580-4149A>T (n.4580-4149A>T)
c.4229A>T (p.Glu1410Val)
c.3761-4149A>T (n.3761-4149A>T)
c.3680A>T (p.Glu1227Val)
c.5594A>T (p.Glu1865Val)
c.5318A>T (p.Glu1773Val)
9g.115046490T>CCA374630806TNCc.318-4149A>G
c.3215-4149A>G (n.3215-4149A>G)
c.3956A>G (p.Glu1319Gly)
c.1988A>G (p.Glu663Gly)
c.644A>G (p.Glu215Gly)
c.4003A>G
c.5045A>G (p.Glu1682Gly)
c.4499A>G (p.Glu1500Gly)
c.4307-4149A>G (n.4307-4149A>G)
n.363A>G
n.253-4149A>G
n.40-4149A>G
c.732A>G
c.4772A>G (p.Glu1591Gly)
c.4034-4149A>G (n.4034-4149A>G)
c.3407A>G (p.Glu1136Gly)
c.5321A>G (p.Glu1774Gly)
c.3488-4149A>G (n.3488-4149A>G)
c.5048A>G (p.Glu1683Gly)
c.4502A>G (p.Glu1501Gly)
c.4580-4149A>G (n.4580-4149A>G)
c.4229A>G (p.Glu1410Gly)
c.3761-4149A>G (n.3761-4149A>G)
c.3680A>G (p.Glu1227Gly)
c.5594A>G (p.Glu1865Gly)
c.5318A>G (p.Glu1773Gly)
9g.115046490T>GCA374630808TNCc.318-4149A>C
c.3215-4149A>C (n.3215-4149A>C)
c.3956A>C (p.Glu1319Ala)
c.1988A>C (p.Glu663Ala)
c.644A>C (p.Glu215Ala)
c.4003A>C
c.5045A>C (p.Glu1682Ala)
c.4499A>C (p.Glu1500Ala)
c.4307-4149A>C (n.4307-4149A>C)
n.363A>C
n.253-4149A>C
n.40-4149A>C
c.732A>C
c.4772A>C (p.Glu1591Ala)
c.4034-4149A>C (n.4034-4149A>C)
c.3407A>C (p.Glu1136Ala)
c.5321A>C (p.Glu1774Ala)
c.3488-4149A>C (n.3488-4149A>C)
c.5048A>C (p.Glu1683Ala)
c.4502A>C (p.Glu1501Ala)
c.4580-4149A>C (n.4580-4149A>C)
c.4229A>C (p.Glu1410Ala)
c.3761-4149A>C (n.3761-4149A>C)
c.3680A>C (p.Glu1227Ala)
c.5594A>C (p.Glu1865Ala)
c.5318A>C (p.Glu1773Ala)
9g.115046491C>ACA374630810TNCc.318-4150G>T
c.3215-4150G>T (n.3215-4150G>T)
c.3955G>T (p.Glu1319Ter)
c.1987G>T (p.Glu663Ter)
c.643G>T (p.Glu215Ter)
c.4002G>T
c.5044G>T (p.Glu1682Ter)
c.4498G>T (p.Glu1500Ter)
c.4307-4150G>T (n.4307-4150G>T)
n.362G>T
n.253-4150G>T
n.40-4150G>T
c.731G>T
c.4771G>T (p.Glu1591Ter)
c.4034-4150G>T (n.4034-4150G>T)
c.3406G>T (p.Glu1136Ter)
c.5320G>T (p.Glu1774Ter)
c.3488-4150G>T (n.3488-4150G>T)
c.5047G>T (p.Glu1683Ter)
c.4501G>T (p.Glu1501Ter)
c.4580-4150G>T (n.4580-4150G>T)
c.4228G>T (p.Glu1410Ter)
c.3761-4150G>T (n.3761-4150G>T)
c.3679G>T (p.Glu1227Ter)
c.5593G>T (p.Glu1865Ter)
c.5317G>T (p.Glu1773Ter)
9g.115046491C=CA1874118886TNCc.318-4150G=
c.3215-4150G= (n.3215-4150G=)
c.3955G= (p.Glu1319=)
c.1987G= (p.Glu663=)
c.643G= (p.Glu215=)
c.4002G=
c.5044G= (p.Glu1682=)
c.4498G= (p.Glu1500=)
c.4307-4150G= (n.4307-4150G=)
n.362G=
n.253-4150G=
n.40-4150G=
c.731G=
c.4771G= (p.Glu1591=)
c.4034-4150G= (n.4034-4150G=)
c.3406G= (p.Glu1136=)
c.5320G= (p.Glu1774=)
c.3488-4150G= (n.3488-4150G=)
c.5047G= (p.Glu1683=)
c.4501G= (p.Glu1501=)
c.4580-4150G= (n.4580-4150G=)
c.4228G= (p.Glu1410=)
c.3761-4150G= (n.3761-4150G=)
c.3679G= (p.Glu1227=)
c.5593G= (p.Glu1865=)
c.5317G= (p.Glu1773=)
9g.115046491C>GCA374630812TNCc.318-4150G>C
c.3215-4150G>C (n.3215-4150G>C)
c.3955G>C (p.Glu1319Gln)
c.1987G>C (p.Glu663Gln)
c.643G>C (p.Glu215Gln)
c.4002G>C
c.5044G>C (p.Glu1682Gln)
c.4498G>C (p.Glu1500Gln)
c.4307-4150G>C (n.4307-4150G>C)
n.362G>C
n.253-4150G>C
n.40-4150G>C
c.731G>C
c.4771G>C (p.Glu1591Gln)
c.4034-4150G>C (n.4034-4150G>C)
c.3406G>C (p.Glu1136Gln)
c.5320G>C (p.Glu1774Gln)
c.3488-4150G>C (n.3488-4150G>C)
c.5047G>C (p.Glu1683Gln)
c.4501G>C (p.Glu1501Gln)
c.4580-4150G>C (n.4580-4150G>C)
c.4228G>C (p.Glu1410Gln)
c.3761-4150G>C (n.3761-4150G>C)
c.3679G>C (p.Glu1227Gln)
c.5593G>C (p.Glu1865Gln)
c.5317G>C (p.Glu1773Gln)
9g.115046491C>TCA5207768TNCc.318-4150G>A
c.3215-4150G>A (n.3215-4150G>A)
c.3955G>A (p.Glu1319Lys)
c.1987G>A (p.Glu663Lys)
c.643G>A (p.Glu215Lys)
c.4002G>A
c.5044G>A (p.Glu1682Lys)
c.4498G>A (p.Glu1500Lys)
c.4307-4150G>A (n.4307-4150G>A)
n.362G>A
n.253-4150G>A
n.40-4150G>A
c.731G>A
c.4771G>A (p.Glu1591Lys)
c.4034-4150G>A (n.4034-4150G>A)
c.3406G>A (p.Glu1136Lys)
c.5320G>A (p.Glu1774Lys)
c.3488-4150G>A (n.3488-4150G>A)
c.5047G>A (p.Glu1683Lys)
c.4501G>A (p.Glu1501Lys)
c.4580-4150G>A (n.4580-4150G>A)
c.4228G>A (p.Glu1410Lys)
c.3761-4150G>A (n.3761-4150G>A)
c.3679G>A (p.Glu1227Lys)
c.5593G>A (p.Glu1865Lys)
c.5317G>A (p.Glu1773Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046492T>ACA374630814TNCc.318-4151A>T
c.3215-4151A>T (n.3215-4151A>T)
c.3954A>T (p.Arg1318Ser)
c.1986A>T (p.Arg662Ser)
c.642A>T (p.Arg214Ser)
c.4001A>T
c.5043A>T (p.Arg1681Ser)
c.4497A>T (p.Arg1499Ser)
c.4307-4151A>T (n.4307-4151A>T)
n.361A>T
n.253-4151A>T
n.40-4151A>T
c.730A>T
c.4770A>T (p.Arg1590Ser)
c.4034-4151A>T (n.4034-4151A>T)
c.3405A>T (p.Arg1135Ser)
c.5319A>T (p.Arg1773Ser)
c.3488-4151A>T (n.3488-4151A>T)
c.5046A>T (p.Arg1682Ser)
c.4500A>T (p.Arg1500Ser)
c.4580-4151A>T (n.4580-4151A>T)
c.4227A>T (p.Arg1409Ser)
c.3761-4151A>T (n.3761-4151A>T)
c.3678A>T (p.Arg1226Ser)
c.5592A>T (p.Arg1864Ser)
c.5316A>T (p.Arg1772Ser)
9g.115046492T>CCA466912401TNCc.318-4151A>G
c.3215-4151A>G (n.3215-4151A>G)
c.3954A>G (p.Arg1318=)
c.1986A>G (p.Arg662=)
c.642A>G (p.Arg214=)
c.4001A>G
c.5043A>G (p.Arg1681=)
c.4497A>G (p.Arg1499=)
c.4307-4151A>G (n.4307-4151A>G)
n.361A>G
n.253-4151A>G
n.40-4151A>G
c.730A>G
c.4770A>G (p.Arg1590=)
c.4034-4151A>G (n.4034-4151A>G)
c.3405A>G (p.Arg1135=)
c.5319A>G (p.Arg1773=)
c.3488-4151A>G (n.3488-4151A>G)
c.5046A>G (p.Arg1682=)
c.4500A>G (p.Arg1500=)
c.4580-4151A>G (n.4580-4151A>G)
c.4227A>G (p.Arg1409=)
c.3761-4151A>G (n.3761-4151A>G)
c.3678A>G (p.Arg1226=)
c.5592A>G (p.Arg1864=)
c.5316A>G (p.Arg1772=)
9g.115046492T>GCA374630815TNCc.318-4151A>C
c.3215-4151A>C (n.3215-4151A>C)
c.3954A>C (p.Arg1318Ser)
c.1986A>C (p.Arg662Ser)
c.642A>C (p.Arg214Ser)
c.4001A>C
c.5043A>C (p.Arg1681Ser)
c.4497A>C (p.Arg1499Ser)
c.4307-4151A>C (n.4307-4151A>C)
n.361A>C
n.253-4151A>C
n.40-4151A>C
c.730A>C
c.4770A>C (p.Arg1590Ser)
c.4034-4151A>C (n.4034-4151A>C)
c.3405A>C (p.Arg1135Ser)
c.5319A>C (p.Arg1773Ser)
c.3488-4151A>C (n.3488-4151A>C)
c.5046A>C (p.Arg1682Ser)
c.4500A>C (p.Arg1500Ser)
c.4580-4151A>C (n.4580-4151A>C)
c.4227A>C (p.Arg1409Ser)
c.3761-4151A>C (n.3761-4151A>C)
c.3678A>C (p.Arg1226Ser)
c.5592A>C (p.Arg1864Ser)
c.5316A>C (p.Arg1772Ser)
9g.115046493C>ACA374630821TNCc.318-4152G>T
c.3215-4152G>T (n.3215-4152G>T)
c.3953G>T (p.Arg1318Ile)
c.1985G>T (p.Arg662Ile)
c.641G>T (p.Arg214Ile)
c.4000G>T
c.5042G>T (p.Arg1681Ile)
c.4496G>T (p.Arg1499Ile)
c.4307-4152G>T (n.4307-4152G>T)
n.360G>T
n.253-4152G>T
n.40-4152G>T
c.729G>T
c.4769G>T (p.Arg1590Ile)
c.4034-4152G>T (n.4034-4152G>T)
c.3404G>T (p.Arg1135Ile)
c.5318G>T (p.Arg1773Ile)
c.3488-4152G>T (n.3488-4152G>T)
c.5045G>T (p.Arg1682Ile)
c.4499G>T (p.Arg1500Ile)
c.4580-4152G>T (n.4580-4152G>T)
c.4226G>T (p.Arg1409Ile)
c.3761-4152G>T (n.3761-4152G>T)
c.3677G>T (p.Arg1226Ile)
c.5591G>T (p.Arg1864Ile)
c.5315G>T (p.Arg1772Ile)
9g.115046493C=CA1874118887TNCc.318-4152G=
c.3215-4152G= (n.3215-4152G=)
c.3953G= (p.Arg1318=)
c.1985G= (p.Arg662=)
c.641G= (p.Arg214=)
c.4000G=
c.5042G= (p.Arg1681=)
c.4496G= (p.Arg1499=)
c.4307-4152G= (n.4307-4152G=)
n.360G=
n.253-4152G=
n.40-4152G=
c.729G=
c.4769G= (p.Arg1590=)
c.4034-4152G= (n.4034-4152G=)
c.3404G= (p.Arg1135=)
c.5318G= (p.Arg1773=)
c.3488-4152G= (n.3488-4152G=)
c.5045G= (p.Arg1682=)
c.4499G= (p.Arg1500=)
c.4580-4152G= (n.4580-4152G=)
c.4226G= (p.Arg1409=)
c.3761-4152G= (n.3761-4152G=)
c.3677G= (p.Arg1226=)
c.5591G= (p.Arg1864=)
c.5315G= (p.Arg1772=)
9g.115046493C>GCA374630819TNCc.318-4152G>C
c.3215-4152G>C (n.3215-4152G>C)
c.3953G>C (p.Arg1318Thr)
c.1985G>C (p.Arg662Thr)
c.641G>C (p.Arg214Thr)
c.4000G>C
c.5042G>C (p.Arg1681Thr)
c.4496G>C (p.Arg1499Thr)
c.4307-4152G>C (n.4307-4152G>C)
n.360G>C
n.253-4152G>C
n.40-4152G>C
c.729G>C
c.4769G>C (p.Arg1590Thr)
c.4034-4152G>C (n.4034-4152G>C)
c.3404G>C (p.Arg1135Thr)
c.5318G>C (p.Arg1773Thr)
c.3488-4152G>C (n.3488-4152G>C)
c.5045G>C (p.Arg1682Thr)
c.4499G>C (p.Arg1500Thr)
c.4580-4152G>C (n.4580-4152G>C)
c.4226G>C (p.Arg1409Thr)
c.3761-4152G>C (n.3761-4152G>C)
c.3677G>C (p.Arg1226Thr)
c.5591G>C (p.Arg1864Thr)
c.5315G>C (p.Arg1772Thr)
9g.115046493C>TCA374630818TNCc.318-4152G>A
c.3215-4152G>A (n.3215-4152G>A)
c.3953G>A (p.Arg1318Lys)
c.1985G>A (p.Arg662Lys)
c.641G>A (p.Arg214Lys)
c.4000G>A
c.5042G>A (p.Arg1681Lys)
c.4496G>A (p.Arg1499Lys)
c.4307-4152G>A (n.4307-4152G>A)
n.360G>A
n.253-4152G>A
n.40-4152G>A
c.729G>A
c.4769G>A (p.Arg1590Lys)
c.4034-4152G>A (n.4034-4152G>A)
c.3404G>A (p.Arg1135Lys)
c.5318G>A (p.Arg1773Lys)
c.3488-4152G>A (n.3488-4152G>A)
c.5045G>A (p.Arg1682Lys)
c.4499G>A (p.Arg1500Lys)
c.4580-4152G>A (n.4580-4152G>A)
c.4226G>A (p.Arg1409Lys)
c.3761-4152G>A (n.3761-4152G>A)
c.3677G>A (p.Arg1226Lys)
c.5591G>A (p.Arg1864Lys)
c.5315G>A (p.Arg1772Lys)
 dbSNP gnomAD v4
9g.115046494T>ACA374630823TNCc.318-4153A>T
c.3215-4153A>T (n.3215-4153A>T)
c.3952A>T (p.Arg1318Ter)
c.1984A>T (p.Arg662Ter)
c.640A>T (p.Arg214Ter)
c.3999A>T
c.5041A>T (p.Arg1681Ter)
c.4495A>T (p.Arg1499Ter)
c.4307-4153A>T (n.4307-4153A>T)
n.359A>T
n.253-4153A>T
n.40-4153A>T
c.728A>T
c.4768A>T (p.Arg1590Ter)
c.4034-4153A>T (n.4034-4153A>T)
c.3403A>T (p.Arg1135Ter)
c.5317A>T (p.Arg1773Ter)
c.3488-4153A>T (n.3488-4153A>T)
c.5044A>T (p.Arg1682Ter)
c.4498A>T (p.Arg1500Ter)
c.4580-4153A>T (n.4580-4153A>T)
c.4225A>T (p.Arg1409Ter)
c.3761-4153A>T (n.3761-4153A>T)
c.3676A>T (p.Arg1226Ter)
c.5590A>T (p.Arg1864Ter)
c.5314A>T (p.Arg1772Ter)
9g.115046494T>CCA374630825TNCc.318-4153A>G
c.3215-4153A>G (n.3215-4153A>G)
c.3952A>G (p.Arg1318Gly)
c.1984A>G (p.Arg662Gly)
c.640A>G (p.Arg214Gly)
c.3999A>G
c.5041A>G (p.Arg1681Gly)
c.4495A>G (p.Arg1499Gly)
c.4307-4153A>G (n.4307-4153A>G)
n.359A>G
n.253-4153A>G
n.40-4153A>G
c.728A>G
c.4768A>G (p.Arg1590Gly)
c.4034-4153A>G (n.4034-4153A>G)
c.3403A>G (p.Arg1135Gly)
c.5317A>G (p.Arg1773Gly)
c.3488-4153A>G (n.3488-4153A>G)
c.5044A>G (p.Arg1682Gly)
c.4498A>G (p.Arg1500Gly)
c.4580-4153A>G (n.4580-4153A>G)
c.4225A>G (p.Arg1409Gly)
c.3761-4153A>G (n.3761-4153A>G)
c.3676A>G (p.Arg1226Gly)
c.5590A>G (p.Arg1864Gly)
c.5314A>G (p.Arg1772Gly)
9g.115046494T>GCA466912402TNCc.318-4153A>C
c.3215-4153A>C (n.3215-4153A>C)
c.3952A>C (p.Arg1318=)
c.1984A>C (p.Arg662=)
c.640A>C (p.Arg214=)
c.3999A>C
c.5041A>C (p.Arg1681=)
c.4495A>C (p.Arg1499=)
c.4307-4153A>C (n.4307-4153A>C)
n.359A>C
n.253-4153A>C
n.40-4153A>C
c.728A>C
c.4768A>C (p.Arg1590=)
c.4034-4153A>C (n.4034-4153A>C)
c.3403A>C (p.Arg1135=)
c.5317A>C (p.Arg1773=)
c.3488-4153A>C (n.3488-4153A>C)
c.5044A>C (p.Arg1682=)
c.4498A>C (p.Arg1500=)
c.4580-4153A>C (n.4580-4153A>C)
c.4225A>C (p.Arg1409=)
c.3761-4153A>C (n.3761-4153A>C)
c.3676A>C (p.Arg1226=)
c.5590A>C (p.Arg1864=)
c.5314A>C (p.Arg1772=)
9g.115046495G>ACA466912403TNCc.318-4154C>T
c.3215-4154C>T (n.3215-4154C>T)
c.3951C>T (p.Leu1317=)
c.1983C>T (p.Leu661=)
c.639C>T (p.Leu213=)
c.3998C>T
c.5040C>T (p.Leu1680=)
c.4494C>T (p.Leu1498=)
c.4307-4154C>T (n.4307-4154C>T)
n.358C>T
n.253-4154C>T
n.40-4154C>T
c.727C>T
c.4767C>T (p.Leu1589=)
c.4034-4154C>T (n.4034-4154C>T)
c.3402C>T (p.Leu1134=)
c.5316C>T (p.Leu1772=)
c.3488-4154C>T (n.3488-4154C>T)
c.5043C>T (p.Leu1681=)
c.4497C>T (p.Leu1499=)
c.4580-4154C>T (n.4580-4154C>T)
c.4224C>T (p.Leu1408=)
c.3761-4154C>T (n.3761-4154C>T)
c.3675C>T (p.Leu1225=)
c.5589C>T (p.Leu1863=)
c.5313C>T (p.Leu1771=)
 dbSNP
9g.115046495G>CCA466912404TNCc.318-4154C>G
c.3215-4154C>G (n.3215-4154C>G)
c.3951C>G (p.Leu1317=)
c.1983C>G (p.Leu661=)
c.639C>G (p.Leu213=)
c.3998C>G
c.5040C>G (p.Leu1680=)
c.4494C>G (p.Leu1498=)
c.4307-4154C>G (n.4307-4154C>G)
n.358C>G
n.253-4154C>G
n.40-4154C>G
c.727C>G
c.4767C>G (p.Leu1589=)
c.4034-4154C>G (n.4034-4154C>G)
c.3402C>G (p.Leu1134=)
c.5316C>G (p.Leu1772=)
c.3488-4154C>G (n.3488-4154C>G)
c.5043C>G (p.Leu1681=)
c.4497C>G (p.Leu1499=)
c.4580-4154C>G (n.4580-4154C>G)
c.4224C>G (p.Leu1408=)
c.3761-4154C>G (n.3761-4154C>G)
c.3675C>G (p.Leu1225=)
c.5589C>G (p.Leu1863=)
c.5313C>G (p.Leu1771=)
9g.115046495G=CA1874118888TNCc.318-4154C=
c.3215-4154C= (n.3215-4154C=)
c.3951C= (p.Leu1317=)
c.1983C= (p.Leu661=)
c.639C= (p.Leu213=)
c.3998C=
c.5040C= (p.Leu1680=)
c.4494C= (p.Leu1498=)
c.4307-4154C= (n.4307-4154C=)
n.358C=
n.253-4154C=
n.40-4154C=
c.727C=
c.4767C= (p.Leu1589=)
c.4034-4154C= (n.4034-4154C=)
c.3402C= (p.Leu1134=)
c.5316C= (p.Leu1772=)
c.3488-4154C= (n.3488-4154C=)
c.5043C= (p.Leu1681=)
c.4497C= (p.Leu1499=)
c.4580-4154C= (n.4580-4154C=)
c.4224C= (p.Leu1408=)
c.3761-4154C= (n.3761-4154C=)
c.3675C= (p.Leu1225=)
c.5589C= (p.Leu1863=)
c.5313C= (p.Leu1771=)
9g.115046495G>TCA466912405TNCc.318-4154C>A
c.3215-4154C>A (n.3215-4154C>A)
c.3951C>A (p.Leu1317=)
c.1983C>A (p.Leu661=)
c.639C>A (p.Leu213=)
c.3998C>A
c.5040C>A (p.Leu1680=)
c.4494C>A (p.Leu1498=)
c.4307-4154C>A (n.4307-4154C>A)
n.358C>A
n.253-4154C>A
n.40-4154C>A
c.727C>A
c.4767C>A (p.Leu1589=)
c.4034-4154C>A (n.4034-4154C>A)
c.3402C>A (p.Leu1134=)
c.5316C>A (p.Leu1772=)
c.3488-4154C>A (n.3488-4154C>A)
c.5043C>A (p.Leu1681=)
c.4497C>A (p.Leu1499=)
c.4580-4154C>A (n.4580-4154C>A)
c.4224C>A (p.Leu1408=)
c.3761-4154C>A (n.3761-4154C>A)
c.3675C>A (p.Leu1225=)
c.5589C>A (p.Leu1863=)
c.5313C>A (p.Leu1771=)
9g.115046496A>CCA374630827TNCc.318-4155T>G
c.3215-4155T>G (n.3215-4155T>G)
c.3950T>G (p.Leu1317Arg)
c.1982T>G (p.Leu661Arg)
c.638T>G (p.Leu213Arg)
c.3997T>G
c.5039T>G (p.Leu1680Arg)
c.4493T>G (p.Leu1498Arg)
c.4307-4155T>G (n.4307-4155T>G)
n.357T>G
n.253-4155T>G
n.40-4155T>G
c.726T>G
c.4766T>G (p.Leu1589Arg)
c.4034-4155T>G (n.4034-4155T>G)
c.3401T>G (p.Leu1134Arg)
c.5315T>G (p.Leu1772Arg)
c.3488-4155T>G (n.3488-4155T>G)
c.5042T>G (p.Leu1681Arg)
c.4496T>G (p.Leu1499Arg)
c.4580-4155T>G (n.4580-4155T>G)
c.4223T>G (p.Leu1408Arg)
c.3761-4155T>G (n.3761-4155T>G)
c.3674T>G (p.Leu1225Arg)
c.5588T>G (p.Leu1863Arg)
c.5312T>G (p.Leu1771Arg)
9g.115046496A>GCA374630829TNCc.318-4155T>C
c.3215-4155T>C (n.3215-4155T>C)
c.3950T>C (p.Leu1317Pro)
c.1982T>C (p.Leu661Pro)
c.638T>C (p.Leu213Pro)
c.3997T>C
c.5039T>C (p.Leu1680Pro)
c.4493T>C (p.Leu1498Pro)
c.4307-4155T>C (n.4307-4155T>C)
n.357T>C
n.253-4155T>C
n.40-4155T>C
c.726T>C
c.4766T>C (p.Leu1589Pro)
c.4034-4155T>C (n.4034-4155T>C)
c.3401T>C (p.Leu1134Pro)
c.5315T>C (p.Leu1772Pro)
c.3488-4155T>C (n.3488-4155T>C)
c.5042T>C (p.Leu1681Pro)
c.4496T>C (p.Leu1499Pro)
c.4580-4155T>C (n.4580-4155T>C)
c.4223T>C (p.Leu1408Pro)
c.3761-4155T>C (n.3761-4155T>C)
c.3674T>C (p.Leu1225Pro)
c.5588T>C (p.Leu1863Pro)
c.5312T>C (p.Leu1771Pro)
9g.115046496A>TCA374630831TNCc.318-4155T>A
c.3215-4155T>A (n.3215-4155T>A)
c.3950T>A (p.Leu1317His)
c.1982T>A (p.Leu661His)
c.638T>A (p.Leu213His)
c.3997T>A
c.5039T>A (p.Leu1680His)
c.4493T>A (p.Leu1498His)
c.4307-4155T>A (n.4307-4155T>A)
n.357T>A
n.253-4155T>A
n.40-4155T>A
c.726T>A
c.4766T>A (p.Leu1589His)
c.4034-4155T>A (n.4034-4155T>A)
c.3401T>A (p.Leu1134His)
c.5315T>A (p.Leu1772His)
c.3488-4155T>A (n.3488-4155T>A)
c.5042T>A (p.Leu1681His)
c.4496T>A (p.Leu1499His)
c.4580-4155T>A (n.4580-4155T>A)
c.4223T>A (p.Leu1408His)
c.3761-4155T>A (n.3761-4155T>A)
c.3674T>A (p.Leu1225His)
c.5588T>A (p.Leu1863His)
c.5312T>A (p.Leu1771His)
9g.115046497G>ACA374630833TNCc.318-4156C>T
c.3215-4156C>T (n.3215-4156C>T)
c.3949C>T (p.Leu1317Phe)
c.1981C>T (p.Leu661Phe)
c.637C>T (p.Leu213Phe)
c.3996C>T
c.5038C>T (p.Leu1680Phe)
c.4492C>T (p.Leu1498Phe)
c.4307-4156C>T (n.4307-4156C>T)
n.356C>T
n.253-4156C>T
n.40-4156C>T
c.725C>T
c.4765C>T (p.Leu1589Phe)
c.4034-4156C>T (n.4034-4156C>T)
c.3400C>T (p.Leu1134Phe)
c.5314C>T (p.Leu1772Phe)
c.3488-4156C>T (n.3488-4156C>T)
c.5041C>T (p.Leu1681Phe)
c.4495C>T (p.Leu1499Phe)
c.4580-4156C>T (n.4580-4156C>T)
c.4222C>T (p.Leu1408Phe)
c.3761-4156C>T (n.3761-4156C>T)
c.3673C>T (p.Leu1225Phe)
c.5587C>T (p.Leu1863Phe)
c.5311C>T (p.Leu1771Phe)
9g.115046497G>CCA374630835TNCc.318-4156C>G
c.3215-4156C>G (n.3215-4156C>G)
c.3949C>G (p.Leu1317Val)
c.1981C>G (p.Leu661Val)
c.637C>G (p.Leu213Val)
c.3996C>G
c.5038C>G (p.Leu1680Val)
c.4492C>G (p.Leu1498Val)
c.4307-4156C>G (n.4307-4156C>G)
n.356C>G
n.253-4156C>G
n.40-4156C>G
c.725C>G
c.4765C>G (p.Leu1589Val)
c.4034-4156C>G (n.4034-4156C>G)
c.3400C>G (p.Leu1134Val)
c.5314C>G (p.Leu1772Val)
c.3488-4156C>G (n.3488-4156C>G)
c.5041C>G (p.Leu1681Val)
c.4495C>G (p.Leu1499Val)
c.4580-4156C>G (n.4580-4156C>G)
c.4222C>G (p.Leu1408Val)
c.3761-4156C>G (n.3761-4156C>G)
c.3673C>G (p.Leu1225Val)
c.5587C>G (p.Leu1863Val)
c.5311C>G (p.Leu1771Val)
9g.115046497G>TCA374630837TNCc.318-4156C>A
c.3215-4156C>A (n.3215-4156C>A)
c.3949C>A (p.Leu1317Ile)
c.1981C>A (p.Leu661Ile)
c.637C>A (p.Leu213Ile)
c.3996C>A
c.5038C>A (p.Leu1680Ile)
c.4492C>A (p.Leu1498Ile)
c.4307-4156C>A (n.4307-4156C>A)
n.356C>A
n.253-4156C>A
n.40-4156C>A
c.725C>A
c.4765C>A (p.Leu1589Ile)
c.4034-4156C>A (n.4034-4156C>A)
c.3400C>A (p.Leu1134Ile)
c.5314C>A (p.Leu1772Ile)
c.3488-4156C>A (n.3488-4156C>A)
c.5041C>A (p.Leu1681Ile)
c.4495C>A (p.Leu1499Ile)
c.4580-4156C>A (n.4580-4156C>A)
c.4222C>A (p.Leu1408Ile)
c.3761-4156C>A (n.3761-4156C>A)
c.3673C>A (p.Leu1225Ile)
c.5587C>A (p.Leu1863Ile)
c.5311C>A (p.Leu1771Ile)
9g.115046498A>CCA466912408TNCc.318-4157T>G
c.3215-4157T>G (n.3215-4157T>G)
c.3948T>G (p.Gly1316=)
c.1980T>G (p.Gly660=)
c.636T>G (p.Gly212=)
c.3995T>G
c.5037T>G (p.Gly1679=)
c.4491T>G (p.Gly1497=)
c.4307-4157T>G (n.4307-4157T>G)
n.355T>G
n.253-4157T>G
n.40-4157T>G
c.724T>G
c.4764T>G (p.Gly1588=)
c.4034-4157T>G (n.4034-4157T>G)
c.3399T>G (p.Gly1133=)
c.5313T>G (p.Gly1771=)
c.3488-4157T>G (n.3488-4157T>G)
c.5040T>G (p.Gly1680=)
c.4494T>G (p.Gly1498=)
c.4580-4157T>G (n.4580-4157T>G)
c.4221T>G (p.Gly1407=)
c.3761-4157T>G (n.3761-4157T>G)
c.3672T>G (p.Gly1224=)
c.5586T>G (p.Gly1862=)
c.5310T>G (p.Gly1770=)
9g.115046498A>GCA466912409TNCc.318-4157T>C
c.3215-4157T>C (n.3215-4157T>C)
c.3948T>C (p.Gly1316=)
c.1980T>C (p.Gly660=)
c.636T>C (p.Gly212=)
c.3995T>C
c.5037T>C (p.Gly1679=)
c.4491T>C (p.Gly1497=)
c.4307-4157T>C (n.4307-4157T>C)
n.355T>C
n.253-4157T>C
n.40-4157T>C
c.724T>C
c.4764T>C (p.Gly1588=)
c.4034-4157T>C (n.4034-4157T>C)
c.3399T>C (p.Gly1133=)
c.5313T>C (p.Gly1771=)
c.3488-4157T>C (n.3488-4157T>C)
c.5040T>C (p.Gly1680=)
c.4494T>C (p.Gly1498=)
c.4580-4157T>C (n.4580-4157T>C)
c.4221T>C (p.Gly1407=)
c.3761-4157T>C (n.3761-4157T>C)
c.3672T>C (p.Gly1224=)
c.5586T>C (p.Gly1862=)
c.5310T>C (p.Gly1770=)
 gnomAD v4
9g.115046498A>TCA466912410TNCc.318-4157T>A
c.3215-4157T>A (n.3215-4157T>A)
c.3948T>A (p.Gly1316=)
c.1980T>A (p.Gly660=)
c.636T>A (p.Gly212=)
c.3995T>A
c.5037T>A (p.Gly1679=)
c.4491T>A (p.Gly1497=)
c.4307-4157T>A (n.4307-4157T>A)
n.355T>A
n.253-4157T>A
n.40-4157T>A
c.724T>A
c.4764T>A (p.Gly1588=)
c.4034-4157T>A (n.4034-4157T>A)
c.3399T>A (p.Gly1133=)
c.5313T>A (p.Gly1771=)
c.3488-4157T>A (n.3488-4157T>A)
c.5040T>A (p.Gly1680=)
c.4494T>A (p.Gly1498=)
c.4580-4157T>A (n.4580-4157T>A)
c.4221T>A (p.Gly1407=)
c.3761-4157T>A (n.3761-4157T>A)
c.3672T>A (p.Gly1224=)
c.5586T>A (p.Gly1862=)
c.5310T>A (p.Gly1770=)
9g.115046499C>ACA374630839TNCc.318-4158G>T
c.3215-4158G>T (n.3215-4158G>T)
c.3947G>T (p.Gly1316Val)
c.1979G>T (p.Gly660Val)
c.635G>T (p.Gly212Val)
c.3994G>T
c.5036G>T (p.Gly1679Val)
c.4490G>T (p.Gly1497Val)
c.4307-4158G>T (n.4307-4158G>T)
n.354G>T
n.253-4158G>T
n.40-4158G>T
c.723G>T
c.4763G>T (p.Gly1588Val)
c.4034-4158G>T (n.4034-4158G>T)
c.3398G>T (p.Gly1133Val)
c.5312G>T (p.Gly1771Val)
c.3488-4158G>T (n.3488-4158G>T)
c.5039G>T (p.Gly1680Val)
c.4493G>T (p.Gly1498Val)
c.4580-4158G>T (n.4580-4158G>T)
c.4220G>T (p.Gly1407Val)
c.3761-4158G>T (n.3761-4158G>T)
c.3671G>T (p.Gly1224Val)
c.5585G>T (p.Gly1862Val)
c.5309G>T (p.Gly1770Val)
9g.115046499C=CA1874118889TNCc.318-4158G=
c.3215-4158G= (n.3215-4158G=)
c.3947G= (p.Gly1316=)
c.1979G= (p.Gly660=)
c.635G= (p.Gly212=)
c.3994G=
c.5036G= (p.Gly1679=)
c.4490G= (p.Gly1497=)
c.4307-4158G= (n.4307-4158G=)
n.354G=
n.253-4158G=
n.40-4158G=
c.723G=
c.4763G= (p.Gly1588=)
c.4034-4158G= (n.4034-4158G=)
c.3398G= (p.Gly1133=)
c.5312G= (p.Gly1771=)
c.3488-4158G= (n.3488-4158G=)
c.5039G= (p.Gly1680=)
c.4493G= (p.Gly1498=)
c.4580-4158G= (n.4580-4158G=)
c.4220G= (p.Gly1407=)
c.3761-4158G= (n.3761-4158G=)
c.3671G= (p.Gly1224=)
c.5585G= (p.Gly1862=)
c.5309G= (p.Gly1770=)
9g.115046499C>GCA374630841TNCc.318-4158G>C
c.3215-4158G>C (n.3215-4158G>C)
c.3947G>C (p.Gly1316Ala)
c.1979G>C (p.Gly660Ala)
c.635G>C (p.Gly212Ala)
c.3994G>C
c.5036G>C (p.Gly1679Ala)
c.4490G>C (p.Gly1497Ala)
c.4307-4158G>C (n.4307-4158G>C)
n.354G>C
n.253-4158G>C
n.40-4158G>C
c.723G>C
c.4763G>C (p.Gly1588Ala)
c.4034-4158G>C (n.4034-4158G>C)
c.3398G>C (p.Gly1133Ala)
c.5312G>C (p.Gly1771Ala)
c.3488-4158G>C (n.3488-4158G>C)
c.5039G>C (p.Gly1680Ala)
c.4493G>C (p.Gly1498Ala)
c.4580-4158G>C (n.4580-4158G>C)
c.4220G>C (p.Gly1407Ala)
c.3761-4158G>C (n.3761-4158G>C)
c.3671G>C (p.Gly1224Ala)
c.5585G>C (p.Gly1862Ala)
c.5309G>C (p.Gly1770Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.115046499C>TCA374630843TNCc.318-4158G>A
c.3215-4158G>A (n.3215-4158G>A)
c.3947G>A (p.Gly1316Asp)
c.1979G>A (p.Gly660Asp)
c.635G>A (p.Gly212Asp)
c.3994G>A
c.5036G>A (p.Gly1679Asp)
c.4490G>A (p.Gly1497Asp)
c.4307-4158G>A (n.4307-4158G>A)
n.354G>A
n.253-4158G>A
n.40-4158G>A
c.723G>A
c.4763G>A (p.Gly1588Asp)
c.4034-4158G>A (n.4034-4158G>A)
c.3398G>A (p.Gly1133Asp)
c.5312G>A (p.Gly1771Asp)
c.3488-4158G>A (n.3488-4158G>A)
c.5039G>A (p.Gly1680Asp)
c.4493G>A (p.Gly1498Asp)
c.4580-4158G>A (n.4580-4158G>A)
c.4220G>A (p.Gly1407Asp)
c.3761-4158G>A (n.3761-4158G>A)
c.3671G>A (p.Gly1224Asp)
c.5585G>A (p.Gly1862Asp)
c.5309G>A (p.Gly1770Asp)
9g.115046500C>ACA374630846TNCc.318-4159G>T
c.3215-4159G>T (n.3215-4159G>T)
c.3946G>T (p.Gly1316Cys)
c.1978G>T (p.Gly660Cys)
c.634G>T (p.Gly212Cys)
c.3993G>T
c.5035G>T (p.Gly1679Cys)
c.4489G>T (p.Gly1497Cys)
c.4307-4159G>T (n.4307-4159G>T)
n.353G>T
n.253-4159G>T
n.40-4159G>T
c.722G>T
c.4762G>T (p.Gly1588Cys)
c.4034-4159G>T (n.4034-4159G>T)
c.3397G>T (p.Gly1133Cys)
c.5311G>T (p.Gly1771Cys)
c.3488-4159G>T (n.3488-4159G>T)
c.5038G>T (p.Gly1680Cys)
c.4492G>T (p.Gly1498Cys)
c.4580-4159G>T (n.4580-4159G>T)
c.4219G>T (p.Gly1407Cys)
c.3761-4159G>T (n.3761-4159G>T)
c.3670G>T (p.Gly1224Cys)
c.5584G>T (p.Gly1862Cys)
c.5308G>T (p.Gly1770Cys)
9g.115046500C=CA1874118890TNCc.318-4159G=
c.3215-4159G= (n.3215-4159G=)
c.3946G= (p.Gly1316=)
c.1978G= (p.Gly660=)
c.634G= (p.Gly212=)
c.3993G=
c.5035G= (p.Gly1679=)
c.4489G= (p.Gly1497=)
c.4307-4159G= (n.4307-4159G=)
n.353G=
n.253-4159G=
n.40-4159G=
c.722G=
c.4762G= (p.Gly1588=)
c.4034-4159G= (n.4034-4159G=)
c.3397G= (p.Gly1133=)
c.5311G= (p.Gly1771=)
c.3488-4159G= (n.3488-4159G=)
c.5038G= (p.Gly1680=)
c.4492G= (p.Gly1498=)
c.4580-4159G= (n.4580-4159G=)
c.4219G= (p.Gly1407=)
c.3761-4159G= (n.3761-4159G=)
c.3670G= (p.Gly1224=)
c.5584G= (p.Gly1862=)
c.5308G= (p.Gly1770=)
9g.115046500C>GCA374630848TNCc.318-4159G>C
c.3215-4159G>C (n.3215-4159G>C)
c.3946G>C (p.Gly1316Arg)
c.1978G>C (p.Gly660Arg)
c.634G>C (p.Gly212Arg)
c.3993G>C
c.5035G>C (p.Gly1679Arg)
c.4489G>C (p.Gly1497Arg)
c.4307-4159G>C (n.4307-4159G>C)
n.353G>C
n.253-4159G>C
n.40-4159G>C
c.722G>C
c.4762G>C (p.Gly1588Arg)
c.4034-4159G>C (n.4034-4159G>C)
c.3397G>C (p.Gly1133Arg)
c.5311G>C (p.Gly1771Arg)
c.3488-4159G>C (n.3488-4159G>C)
c.5038G>C (p.Gly1680Arg)
c.4492G>C (p.Gly1498Arg)
c.4580-4159G>C (n.4580-4159G>C)
c.4219G>C (p.Gly1407Arg)
c.3761-4159G>C (n.3761-4159G>C)
c.3670G>C (p.Gly1224Arg)
c.5584G>C (p.Gly1862Arg)
c.5308G>C (p.Gly1770Arg)
9g.115046500C>TCA5207769TNCc.318-4159G>A
c.3215-4159G>A (n.3215-4159G>A)
c.3946G>A (p.Gly1316Ser)
c.1978G>A (p.Gly660Ser)
c.634G>A (p.Gly212Ser)
c.3993G>A
c.5035G>A (p.Gly1679Ser)
c.4489G>A (p.Gly1497Ser)
c.4307-4159G>A (n.4307-4159G>A)
n.353G>A
n.253-4159G>A
n.40-4159G>A
c.722G>A
c.4762G>A (p.Gly1588Ser)
c.4034-4159G>A (n.4034-4159G>A)
c.3397G>A (p.Gly1133Ser)
c.5311G>A (p.Gly1771Ser)
c.3488-4159G>A (n.3488-4159G>A)
c.5038G>A (p.Gly1680Ser)
c.4492G>A (p.Gly1498Ser)
c.4580-4159G>A (n.4580-4159G>A)
c.4219G>A (p.Gly1407Ser)
c.3761-4159G>A (n.3761-4159G>A)
c.3670G>A (p.Gly1224Ser)
c.5584G>A (p.Gly1862Ser)
c.5308G>A (p.Gly1770Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.115046501T>ACA466912411TNCc.318-4160A>T
c.3215-4160A>T (n.3215-4160A>T)
c.3945A>T (p.Thr1315=)
c.1977A>T (p.Thr659=)
c.633A>T (p.Thr211=)
c.3992A>T
c.5034A>T (p.Thr1678=)
c.4488A>T (p.Thr1496=)
c.4307-4160A>T (n.4307-4160A>T)
n.352A>T
n.253-4160A>T
n.40-4160A>T
c.721A>T
c.4761A>T (p.Thr1587=)
c.4034-4160A>T (n.4034-4160A>T)
c.3396A>T (p.Thr1132=)
c.5310A>T (p.Thr1770=)
c.3488-4160A>T (n.3488-4160A>T)
c.5037A>T (p.Thr1679=)
c.4491A>T (p.Thr1497=)
c.4580-4160A>T (n.4580-4160A>T)
c.4218A>T (p.Thr1406=)
c.3761-4160A>T (n.3761-4160A>T)
c.3669A>T (p.Thr1223=)
c.5583A>T (p.Thr1861=)
c.5307A>T (p.Thr1769=)
9g.115046501T>CCA466912412TNCc.318-4160A>G
c.3215-4160A>G (n.3215-4160A>G)
c.3945A>G (p.Thr1315=)
c.1977A>G (p.Thr659=)
c.633A>G (p.Thr211=)
c.3992A>G
c.5034A>G (p.Thr1678=)
c.4488A>G (p.Thr1496=)
c.4307-4160A>G (n.4307-4160A>G)
n.352A>G
n.253-4160A>G
n.40-4160A>G
c.721A>G
c.4761A>G (p.Thr1587=)
c.4034-4160A>G (n.4034-4160A>G)
c.3396A>G (p.Thr1132=)
c.5310A>G (p.Thr1770=)
c.3488-4160A>G (n.3488-4160A>G)
c.5037A>G (p.Thr1679=)
c.4491A>G (p.Thr1497=)
c.4580-4160A>G (n.4580-4160A>G)
c.4218A>G (p.Thr1406=)
c.3761-4160A>G (n.3761-4160A>G)
c.3669A>G (p.Thr1223=)
c.5583A>G (p.Thr1861=)
c.5307A>G (p.Thr1769=)
 gnomAD v4
9g.115046501T>GCA466912413TNCc.318-4160A>C
c.3215-4160A>C (n.3215-4160A>C)
c.3945A>C (p.Thr1315=)
c.1977A>C (p.Thr659=)
c.633A>C (p.Thr211=)
c.3992A>C
c.5034A>C (p.Thr1678=)
c.4488A>C (p.Thr1496=)
c.4307-4160A>C (n.4307-4160A>C)
n.352A>C
n.253-4160A>C
n.40-4160A>C
c.721A>C
c.4761A>C (p.Thr1587=)
c.4034-4160A>C (n.4034-4160A>C)
c.3396A>C (p.Thr1132=)
c.5310A>C (p.Thr1770=)
c.3488-4160A>C (n.3488-4160A>C)
c.5037A>C (p.Thr1679=)
c.4491A>C (p.Thr1497=)
c.4580-4160A>C (n.4580-4160A>C)
c.4218A>C (p.Thr1406=)
c.3761-4160A>C (n.3761-4160A>C)
c.3669A>C (p.Thr1223=)
c.5583A>C (p.Thr1861=)
c.5307A>C (p.Thr1769=)
 dbSNP gnomAD v3 gnomAD v4
9g.115046501T=CA1874118891TNCc.318-4160A=
c.3215-4160A= (n.3215-4160A=)
c.3945A= (p.Thr1315=)
c.1977A= (p.Thr659=)
c.633A= (p.Thr211=)
c.3992A=
c.5034A= (p.Thr1678=)
c.4488A= (p.Thr1496=)
c.4307-4160A= (n.4307-4160A=)
n.352A=
n.253-4160A=
n.40-4160A=
c.721A=
c.4761A= (p.Thr1587=)
c.4034-4160A= (n.4034-4160A=)
c.3396A= (p.Thr1132=)
c.5310A= (p.Thr1770=)
c.3488-4160A= (n.3488-4160A=)
c.5037A= (p.Thr1679=)
c.4491A= (p.Thr1497=)
c.4580-4160A= (n.4580-4160A=)
c.4218A= (p.Thr1406=)
c.3761-4160A= (n.3761-4160A=)
c.3669A= (p.Thr1223=)
c.5583A= (p.Thr1861=)
c.5307A= (p.Thr1769=)
9g.115046502G>ACA374630853TNCc.318-4161C>T
c.3215-4161C>T (n.3215-4161C>T)
c.3944C>T (p.Thr1315Ile)
c.1976C>T (p.Thr659Ile)
c.632C>T (p.Thr211Ile)
c.3991C>T
c.5033C>T (p.Thr1678Ile)
c.4487C>T (p.Thr1496Ile)
c.4307-4161C>T (n.4307-4161C>T)
n.351C>T
n.253-4161C>T
n.40-4161C>T
c.720C>T
c.4760C>T (p.Thr1587Ile)
c.4034-4161C>T (n.4034-4161C>T)
c.3395C>T (p.Thr1132Ile)
c.5309C>T (p.Thr1770Ile)
c.3488-4161C>T (n.3488-4161C>T)
c.5036C>T (p.Thr1679Ile)
c.4490C>T (p.Thr1497Ile)
c.4580-4161C>T (n.4580-4161C>T)
c.4217C>T (p.Thr1406Ile)
c.3761-4161C>T (n.3761-4161C>T)
c.3668C>T (p.Thr1223Ile)
c.5582C>T (p.Thr1861Ile)
c.5306C>T (p.Thr1769Ile)
9g.115046502G>CCA374630855TNCc.318-4161C>G
c.3215-4161C>G (n.3215-4161C>G)
c.3944C>G (p.Thr1315Arg)
c.1976C>G (p.Thr659Arg)
c.632C>G (p.Thr211Arg)
c.3991C>G
c.5033C>G (p.Thr1678Arg)
c.4487C>G (p.Thr1496Arg)
c.4307-4161C>G (n.4307-4161C>G)
n.351C>G
n.253-4161C>G
n.40-4161C>G
c.720C>G
c.4760C>G (p.Thr1587Arg)
c.4034-4161C>G (n.4034-4161C>G)
c.3395C>G (p.Thr1132Arg)
c.5309C>G (p.Thr1770Arg)
c.3488-4161C>G (n.3488-4161C>G)
c.5036C>G (p.Thr1679Arg)
c.4490C>G (p.Thr1497Arg)
c.4580-4161C>G (n.4580-4161C>G)
c.4217C>G (p.Thr1406Arg)
c.3761-4161C>G (n.3761-4161C>G)
c.3668C>G (p.Thr1223Arg)
c.5582C>G (p.Thr1861Arg)
c.5306C>G (p.Thr1769Arg)
9g.115046502G>TCA374630851TNCc.318-4161C>A
c.3215-4161C>A (n.3215-4161C>A)
c.3944C>A (p.Thr1315Lys)
c.1976C>A (p.Thr659Lys)
c.632C>A (p.Thr211Lys)
c.3991C>A
c.5033C>A (p.Thr1678Lys)
c.4487C>A (p.Thr1496Lys)
c.4307-4161C>A (n.4307-4161C>A)
n.351C>A
n.253-4161C>A
n.40-4161C>A
c.720C>A
c.4760C>A (p.Thr1587Lys)
c.4034-4161C>A (n.4034-4161C>A)
c.3395C>A (p.Thr1132Lys)
c.5309C>A (p.Thr1770Lys)
c.3488-4161C>A (n.3488-4161C>A)
c.5036C>A (p.Thr1679Lys)
c.4490C>A (p.Thr1497Lys)
c.4580-4161C>A (n.4580-4161C>A)
c.4217C>A (p.Thr1406Lys)
c.3761-4161C>A (n.3761-4161C>A)
c.3668C>A (p.Thr1223Lys)
c.5582C>A (p.Thr1861Lys)
c.5306C>A (p.Thr1769Lys)
9g.115046503T>ACA374630857TNCc.318-4162A>T
c.3215-4162A>T (n.3215-4162A>T)
c.3943A>T (p.Thr1315Ser)
c.1975A>T (p.Thr659Ser)
c.631A>T (p.Thr211Ser)
c.3990A>T
c.5032A>T (p.Thr1678Ser)
c.4486A>T (p.Thr1496Ser)
c.4307-4162A>T (n.4307-4162A>T)
n.350A>T
n.253-4162A>T
n.40-4162A>T
c.719A>T
c.4759A>T (p.Thr1587Ser)
c.4034-4162A>T (n.4034-4162A>T)
c.3394A>T (p.Thr1132Ser)
c.5308A>T (p.Thr1770Ser)
c.3488-4162A>T (n.3488-4162A>T)
c.5035A>T (p.Thr1679Ser)
c.4489A>T (p.Thr1497Ser)
c.4580-4162A>T (n.4580-4162A>T)
c.4216A>T (p.Thr1406Ser)
c.3761-4162A>T (n.3761-4162A>T)
c.3667A>T (p.Thr1223Ser)
c.5581A>T (p.Thr1861Ser)
c.5305A>T (p.Thr1769Ser)
9g.115046503T>CCA374630859TNCc.318-4162A>G
c.3215-4162A>G (n.3215-4162A>G)
c.3943A>G (p.Thr1315Ala)
c.1975A>G (p.Thr659Ala)
c.631A>G (p.Thr211Ala)
c.3990A>G
c.5032A>G (p.Thr1678Ala)
c.4486A>G (p.Thr1496Ala)
c.4307-4162A>G (n.4307-4162A>G)
n.350A>G
n.253-4162A>G
n.40-4162A>G
c.719A>G
c.4759A>G (p.Thr1587Ala)
c.4034-4162A>G (n.4034-4162A>G)
c.3394A>G (p.Thr1132Ala)
c.5308A>G (p.Thr1770Ala)
c.3488-4162A>G (n.3488-4162A>G)
c.5035A>G (p.Thr1679Ala)
c.4489A>G (p.Thr1497Ala)
c.4580-4162A>G (n.4580-4162A>G)
c.4216A>G (p.Thr1406Ala)
c.3761-4162A>G (n.3761-4162A>G)
c.3667A>G (p.Thr1223Ala)
c.5581A>G (p.Thr1861Ala)
c.5305A>G (p.Thr1769Ala)
9g.115046503T>GCA374630861TNCc.318-4162A>C
c.3215-4162A>C (n.3215-4162A>C)
c.3943A>C (p.Thr1315Pro)
c.1975A>C (p.Thr659Pro)
c.631A>C (p.Thr211Pro)
c.3990A>C
c.5032A>C (p.Thr1678Pro)
c.4486A>C (p.Thr1496Pro)
c.4307-4162A>C (n.4307-4162A>C)
n.350A>C
n.253-4162A>C
n.40-4162A>C
c.719A>C
c.4759A>C (p.Thr1587Pro)
c.4034-4162A>C (n.4034-4162A>C)
c.3394A>C (p.Thr1132Pro)
c.5308A>C (p.Thr1770Pro)
c.3488-4162A>C (n.3488-4162A>C)
c.5035A>C (p.Thr1679Pro)
c.4489A>C (p.Thr1497Pro)
c.4580-4162A>C (n.4580-4162A>C)
c.4216A>C (p.Thr1406Pro)
c.3761-4162A>C (n.3761-4162A>C)
c.3667A>C (p.Thr1223Pro)
c.5581A>C (p.Thr1861Pro)
c.5305A>C (p.Thr1769Pro)
9g.115046504T>ACA466912416TNCc.318-4163A>T
c.3215-4163A>T (n.3215-4163A>T)
c.3942A>T (p.Ile1314=)
c.1974A>T (p.Ile658=)
c.630A>T (p.Ile210=)
c.3989A>T
c.5031A>T (p.Ile1677=)
c.4485A>T (p.Ile1495=)
c.4307-4163A>T (n.4307-4163A>T)
n.349A>T
n.253-4163A>T
n.40-4163A>T
c.718A>T
c.4758A>T (p.Ile1586=)
c.4034-4163A>T (n.4034-4163A>T)
c.3393A>T (p.Ile1131=)
c.5307A>T (p.Ile1769=)
c.3488-4163A>T (n.3488-4163A>T)
c.5034A>T (p.Ile1678=)
c.4488A>T (p.Ile1496=)
c.4580-4163A>T (n.4580-4163A>T)
c.4215A>T (p.Ile1405=)
c.3761-4163A>T (n.3761-4163A>T)
c.3666A>T (p.Ile1222=)
c.5580A>T (p.Ile1860=)
c.5304A>T (p.Ile1768=)
9g.115046504T>CCA374630863TNCc.318-4163A>G
c.3215-4163A>G (n.3215-4163A>G)
c.3942A>G (p.Ile1314Met)
c.1974A>G (p.Ile658Met)
c.630A>G (p.Ile210Met)
c.3989A>G
c.5031A>G (p.Ile1677Met)
c.4485A>G (p.Ile1495Met)
c.4307-4163A>G (n.4307-4163A>G)
n.349A>G
n.253-4163A>G
n.40-4163A>G
c.718A>G
c.4758A>G (p.Ile1586Met)
c.4034-4163A>G (n.4034-4163A>G)
c.3393A>G (p.Ile1131Met)
c.5307A>G (p.Ile1769Met)
c.3488-4163A>G (n.3488-4163A>G)
c.5034A>G (p.Ile1678Met)
c.4488A>G (p.Ile1496Met)
c.4580-4163A>G (n.4580-4163A>G)
c.4215A>G (p.Ile1405Met)
c.3761-4163A>G (n.3761-4163A>G)
c.3666A>G (p.Ile1222Met)
c.5580A>G (p.Ile1860Met)
c.5304A>G (p.Ile1768Met)
9g.115046504T>GCA466912415TNCc.318-4163A>C
c.3215-4163A>C (n.3215-4163A>C)
c.3942A>C (p.Ile1314=)
c.1974A>C (p.Ile658=)
c.630A>C (p.Ile210=)
c.3989A>C
c.5031A>C (p.Ile1677=)
c.4485A>C (p.Ile1495=)
c.4307-4163A>C (n.4307-4163A>C)
n.349A>C
n.253-4163A>C
n.40-4163A>C
c.718A>C
c.4758A>C (p.Ile1586=)
c.4034-4163A>C (n.4034-4163A>C)
c.3393A>C (p.Ile1131=)
c.5307A>C (p.Ile1769=)
c.3488-4163A>C (n.3488-4163A>C)
c.5034A>C (p.Ile1678=)
c.4488A>C (p.Ile1496=)
c.4580-4163A>C (n.4580-4163A>C)
c.4215A>C (p.Ile1405=)
c.3761-4163A>C (n.3761-4163A>C)
c.3666A>C (p.Ile1222=)
c.5580A>C (p.Ile1860=)
c.5304A>C (p.Ile1768=)
9g.115046505A>CCA374630865TNCc.318-4164T>G
c.3215-4164T>G (n.3215-4164T>G)
c.3941T>G (p.Ile1314Arg)
c.1973T>G (p.Ile658Arg)
c.629T>G (p.Ile210Arg)
c.3988T>G
c.5030T>G (p.Ile1677Arg)
c.4484T>G (p.Ile1495Arg)
c.4307-4164T>G (n.4307-4164T>G)
n.348T>G
n.253-4164T>G
n.40-4164T>G
c.717T>G
c.4757T>G (p.Ile1586Arg)
c.4034-4164T>G (n.4034-4164T>G)
c.3392T>G (p.Ile1131Arg)
c.5306T>G (p.Ile1769Arg)
c.3488-4164T>G (n.3488-4164T>G)
c.5033T>G (p.Ile1678Arg)
c.4487T>G (p.Ile1496Arg)
c.4580-4164T>G (n.4580-4164T>G)
c.4214T>G (p.Ile1405Arg)
c.3761-4164T>G (n.3761-4164T>G)
c.3665T>G (p.Ile1222Arg)
c.5579T>G (p.Ile1860Arg)
c.5303T>G (p.Ile1768Arg)
9g.115046505A>GCA374630866TNCc.318-4164T>C
c.3215-4164T>C (n.3215-4164T>C)
c.3941T>C (p.Ile1314Thr)
c.1973T>C (p.Ile658Thr)
c.629T>C (p.Ile210Thr)
c.3988T>C
c.5030T>C (p.Ile1677Thr)
c.4484T>C (p.Ile1495Thr)
c.4307-4164T>C (n.4307-4164T>C)
n.348T>C
n.253-4164T>C
n.40-4164T>C
c.717T>C
c.4757T>C (p.Ile1586Thr)
c.4034-4164T>C (n.4034-4164T>C)
c.3392T>C (p.Ile1131Thr)
c.5306T>C (p.Ile1769Thr)
c.3488-4164T>C (n.3488-4164T>C)
c.5033T>C (p.Ile1678Thr)
c.4487T>C (p.Ile1496Thr)
c.4580-4164T>C (n.4580-4164T>C)
c.4214T>C (p.Ile1405Thr)
c.3761-4164T>C (n.3761-4164T>C)
c.3665T>C (p.Ile1222Thr)
c.5579T>C (p.Ile1860Thr)
c.5303T>C (p.Ile1768Thr)
 gnomAD v4
9g.115046505A>TCA374630868TNCc.318-4164T>A
c.3215-4164T>A (n.3215-4164T>A)
c.3941T>A (p.Ile1314Lys)
c.1973T>A (p.Ile658Lys)
c.629T>A (p.Ile210Lys)
c.3988T>A
c.5030T>A (p.Ile1677Lys)
c.4484T>A (p.Ile1495Lys)
c.4307-4164T>A (n.4307-4164T>A)
n.348T>A
n.253-4164T>A
n.40-4164T>A
c.717T>A
c.4757T>A (p.Ile1586Lys)
c.4034-4164T>A (n.4034-4164T>A)
c.3392T>A (p.Ile1131Lys)
c.5306T>A (p.Ile1769Lys)
c.3488-4164T>A (n.3488-4164T>A)
c.5033T>A (p.Ile1678Lys)
c.4487T>A (p.Ile1496Lys)
c.4580-4164T>A (n.4580-4164T>A)
c.4214T>A (p.Ile1405Lys)
c.3761-4164T>A (n.3761-4164T>A)
c.3665T>A (p.Ile1222Lys)
c.5579T>A (p.Ile1860Lys)
c.5303T>A (p.Ile1768Lys)
9g.115046506T>ACA5207770TNCc.318-4165A>T
c.3215-4165A>T (n.3215-4165A>T)
c.3940A>T (p.Ile1314Leu)
c.1972A>T (p.Ile658Leu)
c.628A>T (p.Ile210Leu)
c.3987A>T
c.5029A>T (p.Ile1677Leu)
c.4483A>T (p.Ile1495Leu)
c.4307-4165A>T (n.4307-4165A>T)
n.347A>T
n.253-4165A>T
n.40-4165A>T
c.716A>T
c.4756A>T (p.Ile1586Leu)
c.4034-4165A>T (n.4034-4165A>T)
c.3391A>T (p.Ile1131Leu)
c.5305A>T (p.Ile1769Leu)
c.3488-4165A>T (n.3488-4165A>T)
c.5032A>T (p.Ile1678Leu)
c.4486A>T (p.Ile1496Leu)
c.4580-4165A>T (n.4580-4165A>T)
c.4213A>T (p.Ile1405Leu)
c.3761-4165A>T (n.3761-4165A>T)
c.3664A>T (p.Ile1222Leu)
c.5578A>T (p.Ile1860Leu)
c.5302A>T (p.Ile1768Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046506T>CCA374630871TNCc.318-4165A>G
c.3215-4165A>G (n.3215-4165A>G)
c.3940A>G (p.Ile1314Val)
c.1972A>G (p.Ile658Val)
c.628A>G (p.Ile210Val)
c.3987A>G
c.5029A>G (p.Ile1677Val)
c.4483A>G (p.Ile1495Val)
c.4307-4165A>G (n.4307-4165A>G)
n.347A>G
n.253-4165A>G
n.40-4165A>G
c.716A>G
c.4756A>G (p.Ile1586Val)
c.4034-4165A>G (n.4034-4165A>G)
c.3391A>G (p.Ile1131Val)
c.5305A>G (p.Ile1769Val)
c.3488-4165A>G (n.3488-4165A>G)
c.5032A>G (p.Ile1678Val)
c.4486A>G (p.Ile1496Val)
c.4580-4165A>G (n.4580-4165A>G)
c.4213A>G (p.Ile1405Val)
c.3761-4165A>G (n.3761-4165A>G)
c.3664A>G (p.Ile1222Val)
c.5578A>G (p.Ile1860Val)
c.5302A>G (p.Ile1768Val)
 gnomAD v4
9g.115046506T>GCA374630873TNCc.318-4165A>C
c.3215-4165A>C (n.3215-4165A>C)
c.3940A>C (p.Ile1314Leu)
c.1972A>C (p.Ile658Leu)
c.628A>C (p.Ile210Leu)
c.3987A>C
c.5029A>C (p.Ile1677Leu)
c.4483A>C (p.Ile1495Leu)
c.4307-4165A>C (n.4307-4165A>C)
n.347A>C
n.253-4165A>C
n.40-4165A>C
c.716A>C
c.4756A>C (p.Ile1586Leu)
c.4034-4165A>C (n.4034-4165A>C)
c.3391A>C (p.Ile1131Leu)
c.5305A>C (p.Ile1769Leu)
c.3488-4165A>C (n.3488-4165A>C)
c.5032A>C (p.Ile1678Leu)
c.4486A>C (p.Ile1496Leu)
c.4580-4165A>C (n.4580-4165A>C)
c.4213A>C (p.Ile1405Leu)
c.3761-4165A>C (n.3761-4165A>C)
c.3664A>C (p.Ile1222Leu)
c.5578A>C (p.Ile1860Leu)
c.5302A>C (p.Ile1768Leu)
9g.115046506T=CA1874118892TNCc.318-4165A=
c.3215-4165A= (n.3215-4165A=)
c.3940A= (p.Ile1314=)
c.1972A= (p.Ile658=)
c.628A= (p.Ile210=)
c.3987A=
c.5029A= (p.Ile1677=)
c.4483A= (p.Ile1495=)
c.4307-4165A= (n.4307-4165A=)
n.347A=
n.253-4165A=
n.40-4165A=
c.716A=
c.4756A= (p.Ile1586=)
c.4034-4165A= (n.4034-4165A=)
c.3391A= (p.Ile1131=)
c.5305A= (p.Ile1769=)
c.3488-4165A= (n.3488-4165A=)
c.5032A= (p.Ile1678=)
c.4486A= (p.Ile1496=)
c.4580-4165A= (n.4580-4165A=)
c.4213A= (p.Ile1405=)
c.3761-4165A= (n.3761-4165A=)
c.3664A= (p.Ile1222=)
c.5578A= (p.Ile1860=)
c.5302A= (p.Ile1768=)
9g.115046507G>ACA466912417TNCc.318-4166C>T
c.3215-4166C>T (n.3215-4166C>T)
c.3939C>T (p.Asp1313=)
c.1971C>T (p.Asp657=)
c.627C>T (p.Asp209=)
c.3986C>T
c.5028C>T (p.Asp1676=)
c.4482C>T (p.Asp1494=)
c.4307-4166C>T (n.4307-4166C>T)
n.346C>T
n.253-4166C>T
n.40-4166C>T
c.715C>T
c.4755C>T (p.Asp1585=)
c.4034-4166C>T (n.4034-4166C>T)
c.3390C>T (p.Asp1130=)
c.5304C>T (p.Asp1768=)
c.3488-4166C>T (n.3488-4166C>T)
c.5031C>T (p.Asp1677=)
c.4485C>T (p.Asp1495=)
c.4580-4166C>T (n.4580-4166C>T)
c.4212C>T (p.Asp1404=)
c.3761-4166C>T (n.3761-4166C>T)
c.3663C>T (p.Asp1221=)
c.5577C>T (p.Asp1859=)
c.5301C>T (p.Asp1767=)
9g.115046507G>CCA374630875TNCc.318-4166C>G
c.3215-4166C>G (n.3215-4166C>G)
c.3939C>G (p.Asp1313Glu)
c.1971C>G (p.Asp657Glu)
c.627C>G (p.Asp209Glu)
c.3986C>G
c.5028C>G (p.Asp1676Glu)
c.4482C>G (p.Asp1494Glu)
c.4307-4166C>G (n.4307-4166C>G)
n.346C>G
n.253-4166C>G
n.40-4166C>G
c.715C>G
c.4755C>G (p.Asp1585Glu)
c.4034-4166C>G (n.4034-4166C>G)
c.3390C>G (p.Asp1130Glu)
c.5304C>G (p.Asp1768Glu)
c.3488-4166C>G (n.3488-4166C>G)
c.5031C>G (p.Asp1677Glu)
c.4485C>G (p.Asp1495Glu)
c.4580-4166C>G (n.4580-4166C>G)
c.4212C>G (p.Asp1404Glu)
c.3761-4166C>G (n.3761-4166C>G)
c.3663C>G (p.Asp1221Glu)
c.5577C>G (p.Asp1859Glu)
c.5301C>G (p.Asp1767Glu)
9g.115046507G>TCA374630876TNCc.318-4166C>A
c.3215-4166C>A (n.3215-4166C>A)
c.3939C>A (p.Asp1313Glu)
c.1971C>A (p.Asp657Glu)
c.627C>A (p.Asp209Glu)
c.3986C>A
c.5028C>A (p.Asp1676Glu)
c.4482C>A (p.Asp1494Glu)
c.4307-4166C>A (n.4307-4166C>A)
n.346C>A
n.253-4166C>A
n.40-4166C>A
c.715C>A
c.4755C>A (p.Asp1585Glu)
c.4034-4166C>A (n.4034-4166C>A)
c.3390C>A (p.Asp1130Glu)
c.5304C>A (p.Asp1768Glu)
c.3488-4166C>A (n.3488-4166C>A)
c.5031C>A (p.Asp1677Glu)
c.4485C>A (p.Asp1495Glu)
c.4580-4166C>A (n.4580-4166C>A)
c.4212C>A (p.Asp1404Glu)
c.3761-4166C>A (n.3761-4166C>A)
c.3663C>A (p.Asp1221Glu)
c.5577C>A (p.Asp1859Glu)
c.5301C>A (p.Asp1767Glu)
9g.115046508T>ACA374630882TNCc.318-4167A>T
c.3215-4167A>T (n.3215-4167A>T)
c.3938A>T (p.Asp1313Val)
c.1970A>T (p.Asp657Val)
c.626A>T (p.Asp209Val)
c.3985A>T
c.5027A>T (p.Asp1676Val)
c.4481A>T (p.Asp1494Val)
c.4307-4167A>T (n.4307-4167A>T)
n.345A>T
n.253-4167A>T
n.40-4167A>T
c.714A>T
c.4754A>T (p.Asp1585Val)
c.4034-4167A>T (n.4034-4167A>T)
c.3389A>T (p.Asp1130Val)
c.5303A>T (p.Asp1768Val)
c.3488-4167A>T (n.3488-4167A>T)
c.5030A>T (p.Asp1677Val)
c.4484A>T (p.Asp1495Val)
c.4580-4167A>T (n.4580-4167A>T)
c.4211A>T (p.Asp1404Val)
c.3761-4167A>T (n.3761-4167A>T)
c.3662A>T (p.Asp1221Val)
c.5576A>T (p.Asp1859Val)
c.5300A>T (p.Asp1767Val)
 dbSNP gnomAD v4
9g.115046508T>CCA374630880TNCc.318-4167A>G
c.3215-4167A>G (n.3215-4167A>G)
c.3938A>G (p.Asp1313Gly)
c.1970A>G (p.Asp657Gly)
c.626A>G (p.Asp209Gly)
c.3985A>G
c.5027A>G (p.Asp1676Gly)
c.4481A>G (p.Asp1494Gly)
c.4307-4167A>G (n.4307-4167A>G)
n.345A>G
n.253-4167A>G
n.40-4167A>G
c.714A>G
c.4754A>G (p.Asp1585Gly)
c.4034-4167A>G (n.4034-4167A>G)
c.3389A>G (p.Asp1130Gly)
c.5303A>G (p.Asp1768Gly)
c.3488-4167A>G (n.3488-4167A>G)
c.5030A>G (p.Asp1677Gly)
c.4484A>G (p.Asp1495Gly)
c.4580-4167A>G (n.4580-4167A>G)
c.4211A>G (p.Asp1404Gly)
c.3761-4167A>G (n.3761-4167A>G)
c.3662A>G (p.Asp1221Gly)
c.5576A>G (p.Asp1859Gly)
c.5300A>G (p.Asp1767Gly)
 gnomAD v4
9g.115046508T>GCA374630879TNCc.318-4167A>C
c.3215-4167A>C (n.3215-4167A>C)
c.3938A>C (p.Asp1313Ala)
c.1970A>C (p.Asp657Ala)
c.626A>C (p.Asp209Ala)
c.3985A>C
c.5027A>C (p.Asp1676Ala)
c.4481A>C (p.Asp1494Ala)
c.4307-4167A>C (n.4307-4167A>C)
n.345A>C
n.253-4167A>C
n.40-4167A>C
c.714A>C
c.4754A>C (p.Asp1585Ala)
c.4034-4167A>C (n.4034-4167A>C)
c.3389A>C (p.Asp1130Ala)
c.5303A>C (p.Asp1768Ala)
c.3488-4167A>C (n.3488-4167A>C)
c.5030A>C (p.Asp1677Ala)
c.4484A>C (p.Asp1495Ala)
c.4580-4167A>C (n.4580-4167A>C)
c.4211A>C (p.Asp1404Ala)
c.3761-4167A>C (n.3761-4167A>C)
c.3662A>C (p.Asp1221Ala)
c.5576A>C (p.Asp1859Ala)
c.5300A>C (p.Asp1767Ala)
9g.115046508T=CA1874118893TNCc.318-4167A=
c.3215-4167A= (n.3215-4167A=)
c.3938A= (p.Asp1313=)
c.1970A= (p.Asp657=)
c.626A= (p.Asp209=)
c.3985A=
c.5027A= (p.Asp1676=)
c.4481A= (p.Asp1494=)
c.4307-4167A= (n.4307-4167A=)
n.345A=
n.253-4167A=
n.40-4167A=
c.714A=
c.4754A= (p.Asp1585=)
c.4034-4167A= (n.4034-4167A=)
c.3389A= (p.Asp1130=)
c.5303A= (p.Asp1768=)
c.3488-4167A= (n.3488-4167A=)
c.5030A= (p.Asp1677=)
c.4484A= (p.Asp1495=)
c.4580-4167A= (n.4580-4167A=)
c.4211A= (p.Asp1404=)
c.3761-4167A= (n.3761-4167A=)
c.3662A= (p.Asp1221=)
c.5576A= (p.Asp1859=)
c.5300A= (p.Asp1767=)
9g.115046509C>ACA374630884TNCc.318-4168G>T
c.3215-4168G>T (n.3215-4168G>T)
c.3937G>T (p.Asp1313Tyr)
c.1969G>T (p.Asp657Tyr)
c.625G>T (p.Asp209Tyr)
c.3984G>T
c.5026G>T (p.Asp1676Tyr)
c.4480G>T (p.Asp1494Tyr)
c.4307-4168G>T (n.4307-4168G>T)
n.344G>T
n.253-4168G>T
n.40-4168G>T
c.713G>T
c.4753G>T (p.Asp1585Tyr)
c.4034-4168G>T (n.4034-4168G>T)
c.3388G>T (p.Asp1130Tyr)
c.5302G>T (p.Asp1768Tyr)
c.3488-4168G>T (n.3488-4168G>T)
c.5029G>T (p.Asp1677Tyr)
c.4483G>T (p.Asp1495Tyr)
c.4580-4168G>T (n.4580-4168G>T)
c.4210G>T (p.Asp1404Tyr)
c.3761-4168G>T (n.3761-4168G>T)
c.3661G>T (p.Asp1221Tyr)
c.5575G>T (p.Asp1859Tyr)
c.5299G>T (p.Asp1767Tyr)
9g.115046509C=CA1874118894TNCc.318-4168G=
c.3215-4168G= (n.3215-4168G=)
c.3937G= (p.Asp1313=)
c.1969G= (p.Asp657=)
c.625G= (p.Asp209=)
c.3984G=
c.5026G= (p.Asp1676=)
c.4480G= (p.Asp1494=)
c.4307-4168G= (n.4307-4168G=)
n.344G=
n.253-4168G=
n.40-4168G=
c.713G=
c.4753G= (p.Asp1585=)
c.4034-4168G= (n.4034-4168G=)
c.3388G= (p.Asp1130=)
c.5302G= (p.Asp1768=)
c.3488-4168G= (n.3488-4168G=)
c.5029G= (p.Asp1677=)
c.4483G= (p.Asp1495=)
c.4580-4168G= (n.4580-4168G=)
c.4210G= (p.Asp1404=)
c.3761-4168G= (n.3761-4168G=)
c.3661G= (p.Asp1221=)
c.5575G= (p.Asp1859=)
c.5299G= (p.Asp1767=)
9g.115046509C>GCA198692591TNCc.318-4168G>C
c.3215-4168G>C (n.3215-4168G>C)
c.3937G>C (p.Asp1313His)
c.1969G>C (p.Asp657His)
c.625G>C (p.Asp209His)
c.3984G>C
c.5026G>C (p.Asp1676His)
c.4480G>C (p.Asp1494His)
c.4307-4168G>C (n.4307-4168G>C)
n.344G>C
n.253-4168G>C
n.40-4168G>C
c.713G>C
c.4753G>C (p.Asp1585His)
c.4034-4168G>C (n.4034-4168G>C)
c.3388G>C (p.Asp1130His)
c.5302G>C (p.Asp1768His)
c.3488-4168G>C (n.3488-4168G>C)
c.5029G>C (p.Asp1677His)
c.4483G>C (p.Asp1495His)
c.4580-4168G>C (n.4580-4168G>C)
c.4210G>C (p.Asp1404His)
c.3761-4168G>C (n.3761-4168G>C)
c.3661G>C (p.Asp1221His)
c.5575G>C (p.Asp1859His)
c.5299G>C (p.Asp1767His)
 dbSNP gnomAD v2 gnomAD v4
9g.115046509C>TCA374630887TNCc.318-4168G>A
c.3215-4168G>A (n.3215-4168G>A)
c.3937G>A (p.Asp1313Asn)
c.1969G>A (p.Asp657Asn)
c.625G>A (p.Asp209Asn)
c.3984G>A
c.5026G>A (p.Asp1676Asn)
c.4480G>A (p.Asp1494Asn)
c.4307-4168G>A (n.4307-4168G>A)
n.344G>A
n.253-4168G>A
n.40-4168G>A
c.713G>A
c.4753G>A (p.Asp1585Asn)
c.4034-4168G>A (n.4034-4168G>A)
c.3388G>A (p.Asp1130Asn)
c.5302G>A (p.Asp1768Asn)
c.3488-4168G>A (n.3488-4168G>A)
c.5029G>A (p.Asp1677Asn)
c.4483G>A (p.Asp1495Asn)
c.4580-4168G>A (n.4580-4168G>A)
c.4210G>A (p.Asp1404Asn)
c.3761-4168G>A (n.3761-4168G>A)
c.3661G>A (p.Asp1221Asn)
c.5575G>A (p.Asp1859Asn)
c.5299G>A (p.Asp1767Asn)
 gnomAD v4
9g.115046510C>ACA374630888TNCc.318-4169G>T
c.3215-4169G>T (n.3215-4169G>T)
c.3936G>T (p.Arg1312Ser)
c.1968G>T (p.Arg656Ser)
c.624G>T (p.Arg208Ser)
c.3983G>T
c.5025G>T (p.Arg1675Ser)
c.4479G>T (p.Arg1493Ser)
c.4307-4169G>T (n.4307-4169G>T)
n.343G>T
n.253-4169G>T
n.40-4169G>T
c.712G>T
c.4752G>T (p.Arg1584Ser)
c.4034-4169G>T (n.4034-4169G>T)
c.3387G>T (p.Arg1129Ser)
c.5301G>T (p.Arg1767Ser)
c.3488-4169G>T (n.3488-4169G>T)
c.5028G>T (p.Arg1676Ser)
c.4482G>T (p.Arg1494Ser)
c.4580-4169G>T (n.4580-4169G>T)
c.4209G>T (p.Arg1403Ser)
c.3761-4169G>T (n.3761-4169G>T)
c.3660G>T (p.Arg1220Ser)
c.5574G>T (p.Arg1858Ser)
c.5298G>T (p.Arg1766Ser)
 gnomAD v4
9g.115046510C>GCA374630890TNCc.318-4169G>C
c.3215-4169G>C (n.3215-4169G>C)
c.3936G>C (p.Arg1312Ser)
c.1968G>C (p.Arg656Ser)
c.624G>C (p.Arg208Ser)
c.3983G>C
c.5025G>C (p.Arg1675Ser)
c.4479G>C (p.Arg1493Ser)
c.4307-4169G>C (n.4307-4169G>C)
n.343G>C
n.253-4169G>C
n.40-4169G>C
c.712G>C
c.4752G>C (p.Arg1584Ser)
c.4034-4169G>C (n.4034-4169G>C)
c.3387G>C (p.Arg1129Ser)
c.5301G>C (p.Arg1767Ser)
c.3488-4169G>C (n.3488-4169G>C)
c.5028G>C (p.Arg1676Ser)
c.4482G>C (p.Arg1494Ser)
c.4580-4169G>C (n.4580-4169G>C)
c.4209G>C (p.Arg1403Ser)
c.3761-4169G>C (n.3761-4169G>C)
c.3660G>C (p.Arg1220Ser)
c.5574G>C (p.Arg1858Ser)
c.5298G>C (p.Arg1766Ser)
9g.115046510C>TCA466912421TNCc.318-4169G>A
c.3215-4169G>A (n.3215-4169G>A)
c.3936G>A (p.Arg1312=)
c.1968G>A (p.Arg656=)
c.624G>A (p.Arg208=)
c.3983G>A
c.5025G>A (p.Arg1675=)
c.4479G>A (p.Arg1493=)
c.4307-4169G>A (n.4307-4169G>A)
n.343G>A
n.253-4169G>A
n.40-4169G>A
c.712G>A
c.4752G>A (p.Arg1584=)
c.4034-4169G>A (n.4034-4169G>A)
c.3387G>A (p.Arg1129=)
c.5301G>A (p.Arg1767=)
c.3488-4169G>A (n.3488-4169G>A)
c.5028G>A (p.Arg1676=)
c.4482G>A (p.Arg1494=)
c.4580-4169G>A (n.4580-4169G>A)
c.4209G>A (p.Arg1403=)
c.3761-4169G>A (n.3761-4169G>A)
c.3660G>A (p.Arg1220=)
c.5574G>A (p.Arg1858=)
c.5298G>A (p.Arg1766=)
9g.115046511C>ACA374630892TNCc.318-4170G>T
c.3215-4170G>T (n.3215-4170G>T)
c.3935G>T (p.Arg1312Met)
c.1967G>T (p.Arg656Met)
c.623G>T (p.Arg208Met)
c.3982G>T
c.5024G>T (p.Arg1675Met)
c.4478G>T (p.Arg1493Met)
c.4307-4170G>T (n.4307-4170G>T)
n.342G>T
n.253-4170G>T
n.40-4170G>T
c.711G>T
c.4751G>T (p.Arg1584Met)
c.4034-4170G>T (n.4034-4170G>T)
c.3386G>T (p.Arg1129Met)
c.5300G>T (p.Arg1767Met)
c.3488-4170G>T (n.3488-4170G>T)
c.5027G>T (p.Arg1676Met)
c.4481G>T (p.Arg1494Met)
c.4580-4170G>T (n.4580-4170G>T)
c.4208G>T (p.Arg1403Met)
c.3761-4170G>T (n.3761-4170G>T)
c.3659G>T (p.Arg1220Met)
c.5573G>T (p.Arg1858Met)
c.5297G>T (p.Arg1766Met)
9g.115046511C>GCA374630894TNCc.318-4170G>C
c.3215-4170G>C (n.3215-4170G>C)
c.3935G>C (p.Arg1312Thr)
c.1967G>C (p.Arg656Thr)
c.623G>C (p.Arg208Thr)
c.3982G>C
c.5024G>C (p.Arg1675Thr)
c.4478G>C (p.Arg1493Thr)
c.4307-4170G>C (n.4307-4170G>C)
n.342G>C
n.253-4170G>C
n.40-4170G>C
c.711G>C
c.4751G>C (p.Arg1584Thr)
c.4034-4170G>C (n.4034-4170G>C)
c.3386G>C (p.Arg1129Thr)
c.5300G>C (p.Arg1767Thr)
c.3488-4170G>C (n.3488-4170G>C)
c.5027G>C (p.Arg1676Thr)
c.4481G>C (p.Arg1494Thr)
c.4580-4170G>C (n.4580-4170G>C)
c.4208G>C (p.Arg1403Thr)
c.3761-4170G>C (n.3761-4170G>C)
c.3659G>C (p.Arg1220Thr)
c.5573G>C (p.Arg1858Thr)
c.5297G>C (p.Arg1766Thr)
 gnomAD v4
9g.115046511C>TCA374630896TNCc.318-4170G>A
c.3215-4170G>A (n.3215-4170G>A)
c.3935G>A (p.Arg1312Lys)
c.1967G>A (p.Arg656Lys)
c.623G>A (p.Arg208Lys)
c.3982G>A
c.5024G>A (p.Arg1675Lys)
c.4478G>A (p.Arg1493Lys)
c.4307-4170G>A (n.4307-4170G>A)
n.342G>A
n.253-4170G>A
n.40-4170G>A
c.711G>A
c.4751G>A (p.Arg1584Lys)
c.4034-4170G>A (n.4034-4170G>A)
c.3386G>A (p.Arg1129Lys)
c.5300G>A (p.Arg1767Lys)
c.3488-4170G>A (n.3488-4170G>A)
c.5027G>A (p.Arg1676Lys)
c.4481G>A (p.Arg1494Lys)
c.4580-4170G>A (n.4580-4170G>A)
c.4208G>A (p.Arg1403Lys)
c.3761-4170G>A (n.3761-4170G>A)
c.3659G>A (p.Arg1220Lys)
c.5573G>A (p.Arg1858Lys)
c.5297G>A (p.Arg1766Lys)
9g.115046512T>ACA374630898TNCc.318-4171A>T
c.3215-4171A>T (n.3215-4171A>T)
c.3934A>T (p.Arg1312Trp)
c.1966A>T (p.Arg656Trp)
c.622A>T (p.Arg208Trp)
c.3981A>T
c.5023A>T (p.Arg1675Trp)
c.4477A>T (p.Arg1493Trp)
c.4307-4171A>T (n.4307-4171A>T)
n.341A>T
n.253-4171A>T
n.40-4171A>T
c.710A>T
c.4750A>T (p.Arg1584Trp)
c.4034-4171A>T (n.4034-4171A>T)
c.3385A>T (p.Arg1129Trp)
c.5299A>T (p.Arg1767Trp)
c.3488-4171A>T (n.3488-4171A>T)
c.5026A>T (p.Arg1676Trp)
c.4480A>T (p.Arg1494Trp)
c.4580-4171A>T (n.4580-4171A>T)
c.4207A>T (p.Arg1403Trp)
c.3761-4171A>T (n.3761-4171A>T)
c.3658A>T (p.Arg1220Trp)
c.5572A>T (p.Arg1858Trp)
c.5296A>T (p.Arg1766Trp)
9g.115046512T>CCA374630900TNCc.318-4171A>G
c.3215-4171A>G (n.3215-4171A>G)
c.3934A>G (p.Arg1312Gly)
c.1966A>G (p.Arg656Gly)
c.622A>G (p.Arg208Gly)
c.3981A>G
c.5023A>G (p.Arg1675Gly)
c.4477A>G (p.Arg1493Gly)
c.4307-4171A>G (n.4307-4171A>G)
n.341A>G
n.253-4171A>G
n.40-4171A>G
c.710A>G
c.4750A>G (p.Arg1584Gly)
c.4034-4171A>G (n.4034-4171A>G)
c.3385A>G (p.Arg1129Gly)
c.5299A>G (p.Arg1767Gly)
c.3488-4171A>G (n.3488-4171A>G)
c.5026A>G (p.Arg1676Gly)
c.4480A>G (p.Arg1494Gly)
c.4580-4171A>G (n.4580-4171A>G)
c.4207A>G (p.Arg1403Gly)
c.3761-4171A>G (n.3761-4171A>G)
c.3658A>G (p.Arg1220Gly)
c.5572A>G (p.Arg1858Gly)
c.5296A>G (p.Arg1766Gly)
 dbSNP
9g.115046512T>GCA466912423TNCc.318-4171A>C
c.3215-4171A>C (n.3215-4171A>C)
c.3934A>C (p.Arg1312=)
c.1966A>C (p.Arg656=)
c.622A>C (p.Arg208=)
c.3981A>C
c.5023A>C (p.Arg1675=)
c.4477A>C (p.Arg1493=)
c.4307-4171A>C (n.4307-4171A>C)
n.341A>C
n.253-4171A>C
n.40-4171A>C
c.710A>C
c.4750A>C (p.Arg1584=)
c.4034-4171A>C (n.4034-4171A>C)
c.3385A>C (p.Arg1129=)
c.5299A>C (p.Arg1767=)
c.3488-4171A>C (n.3488-4171A>C)
c.5026A>C (p.Arg1676=)
c.4480A>C (p.Arg1494=)
c.4580-4171A>C (n.4580-4171A>C)
c.4207A>C (p.Arg1403=)
c.3761-4171A>C (n.3761-4171A>C)
c.3658A>C (p.Arg1220=)
c.5572A>C (p.Arg1858=)
c.5296A>C (p.Arg1766=)
9g.115046512T=CA1874118895TNCc.318-4171A=
c.3215-4171A= (n.3215-4171A=)
c.3934A= (p.Arg1312=)
c.1966A= (p.Arg656=)
c.622A= (p.Arg208=)
c.3981A=
c.5023A= (p.Arg1675=)
c.4477A= (p.Arg1493=)
c.4307-4171A= (n.4307-4171A=)
n.341A=
n.253-4171A=
n.40-4171A=
c.710A=
c.4750A= (p.Arg1584=)
c.4034-4171A= (n.4034-4171A=)
c.3385A= (p.Arg1129=)
c.5299A= (p.Arg1767=)
c.3488-4171A= (n.3488-4171A=)
c.5026A= (p.Arg1676=)
c.4480A= (p.Arg1494=)
c.4580-4171A= (n.4580-4171A=)
c.4207A= (p.Arg1403=)
c.3761-4171A= (n.3761-4171A=)
c.3658A= (p.Arg1220=)
c.5572A= (p.Arg1858=)
c.5296A= (p.Arg1766=)
9g.115046513G>ACA466912425TNCc.318-4172C>T
c.3215-4172C>T (n.3215-4172C>T)
c.3933C>T (p.Thr1311=)
c.1965C>T (p.Thr655=)
c.621C>T (p.Thr207=)
c.3980C>T
c.5022C>T (p.Thr1674=)
c.4476C>T (p.Thr1492=)
c.4307-4172C>T (n.4307-4172C>T)
n.340C>T
n.253-4172C>T
n.40-4172C>T
c.709C>T
c.4749C>T (p.Thr1583=)
c.4034-4172C>T (n.4034-4172C>T)
c.3384C>T (p.Thr1128=)
c.5298C>T (p.Thr1766=)
c.3488-4172C>T (n.3488-4172C>T)
c.5025C>T (p.Thr1675=)
c.4479C>T (p.Thr1493=)
c.4580-4172C>T (n.4580-4172C>T)
c.4206C>T (p.Thr1402=)
c.3761-4172C>T (n.3761-4172C>T)
c.3657C>T (p.Thr1219=)
c.5571C>T (p.Thr1857=)
c.5295C>T (p.Thr1765=)
 gnomAD v4
9g.115046513G>CCA466912427TNCc.318-4172C>G
c.3215-4172C>G (n.3215-4172C>G)
c.3933C>G (p.Thr1311=)
c.1965C>G (p.Thr655=)
c.621C>G (p.Thr207=)
c.3980C>G
c.5022C>G (p.Thr1674=)
c.4476C>G (p.Thr1492=)
c.4307-4172C>G (n.4307-4172C>G)
n.340C>G
n.253-4172C>G
n.40-4172C>G
c.709C>G
c.4749C>G (p.Thr1583=)
c.4034-4172C>G (n.4034-4172C>G)
c.3384C>G (p.Thr1128=)
c.5298C>G (p.Thr1766=)
c.3488-4172C>G (n.3488-4172C>G)
c.5025C>G (p.Thr1675=)
c.4479C>G (p.Thr1493=)
c.4580-4172C>G (n.4580-4172C>G)
c.4206C>G (p.Thr1402=)
c.3761-4172C>G (n.3761-4172C>G)
c.3657C>G (p.Thr1219=)
c.5571C>G (p.Thr1857=)
c.5295C>G (p.Thr1765=)
9g.115046513G>TCA466912428TNCc.318-4172C>A
c.3215-4172C>A (n.3215-4172C>A)
c.3933C>A (p.Thr1311=)
c.1965C>A (p.Thr655=)
c.621C>A (p.Thr207=)
c.3980C>A
c.5022C>A (p.Thr1674=)
c.4476C>A (p.Thr1492=)
c.4307-4172C>A (n.4307-4172C>A)
n.340C>A
n.253-4172C>A
n.40-4172C>A
c.709C>A
c.4749C>A (p.Thr1583=)
c.4034-4172C>A (n.4034-4172C>A)
c.3384C>A (p.Thr1128=)
c.5298C>A (p.Thr1766=)
c.3488-4172C>A (n.3488-4172C>A)
c.5025C>A (p.Thr1675=)
c.4479C>A (p.Thr1493=)
c.4580-4172C>A (n.4580-4172C>A)
c.4206C>A (p.Thr1402=)
c.3761-4172C>A (n.3761-4172C>A)
c.3657C>A (p.Thr1219=)
c.5571C>A (p.Thr1857=)
c.5295C>A (p.Thr1765=)
9g.115046514G>ACA374630902TNCc.318-4173C>T
c.3215-4173C>T (n.3215-4173C>T)
c.3932C>T (p.Thr1311Ile)
c.1964C>T (p.Thr655Ile)
c.620C>T (p.Thr207Ile)
c.3979C>T
c.5021C>T (p.Thr1674Ile)
c.4475C>T (p.Thr1492Ile)
c.4307-4173C>T (n.4307-4173C>T)
n.339C>T
n.253-4173C>T
n.40-4173C>T
c.708C>T
c.4748C>T (p.Thr1583Ile)
c.4034-4173C>T (n.4034-4173C>T)
c.3383C>T (p.Thr1128Ile)
c.5297C>T (p.Thr1766Ile)
c.3488-4173C>T (n.3488-4173C>T)
c.5024C>T (p.Thr1675Ile)
c.4478C>T (p.Thr1493Ile)
c.4580-4173C>T (n.4580-4173C>T)
c.4205C>T (p.Thr1402Ile)
c.3761-4173C>T (n.3761-4173C>T)
c.3656C>T (p.Thr1219Ile)
c.5570C>T (p.Thr1857Ile)
c.5294C>T (p.Thr1765Ile)
9g.115046514G>CCA374630903TNCc.318-4173C>G
c.3215-4173C>G (n.3215-4173C>G)
c.3932C>G (p.Thr1311Ser)
c.1964C>G (p.Thr655Ser)
c.620C>G (p.Thr207Ser)
c.3979C>G
c.5021C>G (p.Thr1674Ser)
c.4475C>G (p.Thr1492Ser)
c.4307-4173C>G (n.4307-4173C>G)
n.339C>G
n.253-4173C>G
n.40-4173C>G
c.708C>G
c.4748C>G (p.Thr1583Ser)
c.4034-4173C>G (n.4034-4173C>G)
c.3383C>G (p.Thr1128Ser)
c.5297C>G (p.Thr1766Ser)
c.3488-4173C>G (n.3488-4173C>G)
c.5024C>G (p.Thr1675Ser)
c.4478C>G (p.Thr1493Ser)
c.4580-4173C>G (n.4580-4173C>G)
c.4205C>G (p.Thr1402Ser)
c.3761-4173C>G (n.3761-4173C>G)
c.3656C>G (p.Thr1219Ser)
c.5570C>G (p.Thr1857Ser)
c.5294C>G (p.Thr1765Ser)
 ClinVar dbSNP
9g.115046514G=CA1874118896TNCc.318-4173C=
c.3215-4173C= (n.3215-4173C=)
c.3932C= (p.Thr1311=)
c.1964C= (p.Thr655=)
c.620C= (p.Thr207=)
c.3979C=
c.5021C= (p.Thr1674=)
c.4475C= (p.Thr1492=)
c.4307-4173C= (n.4307-4173C=)
n.339C=
n.253-4173C=
n.40-4173C=
c.708C=
c.4748C= (p.Thr1583=)
c.4034-4173C= (n.4034-4173C=)
c.3383C= (p.Thr1128=)
c.5297C= (p.Thr1766=)
c.3488-4173C= (n.3488-4173C=)
c.5024C= (p.Thr1675=)
c.4478C= (p.Thr1493=)
c.4580-4173C= (n.4580-4173C=)
c.4205C= (p.Thr1402=)
c.3761-4173C= (n.3761-4173C=)
c.3656C= (p.Thr1219=)
c.5570C= (p.Thr1857=)
c.5294C= (p.Thr1765=)
9g.115046514G>TCA374630905TNCc.318-4173C>A
c.3215-4173C>A (n.3215-4173C>A)
c.3932C>A (p.Thr1311Asn)
c.1964C>A (p.Thr655Asn)
c.620C>A (p.Thr207Asn)
c.3979C>A
c.5021C>A (p.Thr1674Asn)
c.4475C>A (p.Thr1492Asn)
c.4307-4173C>A (n.4307-4173C>A)
n.339C>A
n.253-4173C>A
n.40-4173C>A
c.708C>A
c.4748C>A (p.Thr1583Asn)
c.4034-4173C>A (n.4034-4173C>A)
c.3383C>A (p.Thr1128Asn)
c.5297C>A (p.Thr1766Asn)
c.3488-4173C>A (n.3488-4173C>A)
c.5024C>A (p.Thr1675Asn)
c.4478C>A (p.Thr1493Asn)
c.4580-4173C>A (n.4580-4173C>A)
c.4205C>A (p.Thr1402Asn)
c.3761-4173C>A (n.3761-4173C>A)
c.3656C>A (p.Thr1219Asn)
c.5570C>A (p.Thr1857Asn)
c.5294C>A (p.Thr1765Asn)
9g.115046515T>ACA374630909TNCc.318-4174A>T
c.3215-4174A>T (n.3215-4174A>T)
c.3931A>T (p.Thr1311Ser)
c.1963A>T (p.Thr655Ser)
c.619A>T (p.Thr207Ser)
c.3978A>T
c.5020A>T (p.Thr1674Ser)
c.4474A>T (p.Thr1492Ser)
c.4307-4174A>T (n.4307-4174A>T)
n.338A>T
n.253-4174A>T
n.40-4174A>T
c.707A>T
c.4747A>T (p.Thr1583Ser)
c.4034-4174A>T (n.4034-4174A>T)
c.3382A>T (p.Thr1128Ser)
c.5296A>T (p.Thr1766Ser)
c.3488-4174A>T (n.3488-4174A>T)
c.5023A>T (p.Thr1675Ser)
c.4477A>T (p.Thr1493Ser)
c.4580-4174A>T (n.4580-4174A>T)
c.4204A>T (p.Thr1402Ser)
c.3761-4174A>T (n.3761-4174A>T)
c.3655A>T (p.Thr1219Ser)
c.5569A>T (p.Thr1857Ser)
c.5293A>T (p.Thr1765Ser)
9g.115046515T>CCA374630911TNCc.318-4174A>G
c.3215-4174A>G (n.3215-4174A>G)
c.3931A>G (p.Thr1311Ala)
c.1963A>G (p.Thr655Ala)
c.619A>G (p.Thr207Ala)
c.3978A>G
c.5020A>G (p.Thr1674Ala)
c.4474A>G (p.Thr1492Ala)
c.4307-4174A>G (n.4307-4174A>G)
n.338A>G
n.253-4174A>G
n.40-4174A>G
c.707A>G
c.4747A>G (p.Thr1583Ala)
c.4034-4174A>G (n.4034-4174A>G)
c.3382A>G (p.Thr1128Ala)
c.5296A>G (p.Thr1766Ala)
c.3488-4174A>G (n.3488-4174A>G)
c.5023A>G (p.Thr1675Ala)
c.4477A>G (p.Thr1493Ala)
c.4580-4174A>G (n.4580-4174A>G)
c.4204A>G (p.Thr1402Ala)
c.3761-4174A>G (n.3761-4174A>G)
c.3655A>G (p.Thr1219Ala)
c.5569A>G (p.Thr1857Ala)
c.5293A>G (p.Thr1765Ala)
 COSMIC
9g.115046515T>GCA374630907TNCc.318-4174A>C
c.3215-4174A>C (n.3215-4174A>C)
c.3931A>C (p.Thr1311Pro)
c.1963A>C (p.Thr655Pro)
c.619A>C (p.Thr207Pro)
c.3978A>C
c.5020A>C (p.Thr1674Pro)
c.4474A>C (p.Thr1492Pro)
c.4307-4174A>C (n.4307-4174A>C)
n.338A>C
n.253-4174A>C
n.40-4174A>C
c.707A>C
c.4747A>C (p.Thr1583Pro)
c.4034-4174A>C (n.4034-4174A>C)
c.3382A>C (p.Thr1128Pro)
c.5296A>C (p.Thr1766Pro)
c.3488-4174A>C (n.3488-4174A>C)
c.5023A>C (p.Thr1675Pro)
c.4477A>C (p.Thr1493Pro)
c.4580-4174A>C (n.4580-4174A>C)
c.4204A>C (p.Thr1402Pro)
c.3761-4174A>C (n.3761-4174A>C)
c.3655A>C (p.Thr1219Pro)
c.5569A>C (p.Thr1857Pro)
c.5293A>C (p.Thr1765Pro)
9g.115046516A=CA1874118897TNCc.318-4175T=
c.3215-4175T= (n.3215-4175T=)
c.3930T= (p.Arg1310=)
c.1962T= (p.Arg654=)
c.618T= (p.Arg206=)
c.3977T=
c.5019T= (p.Arg1673=)
c.4473T= (p.Arg1491=)
c.4307-4175T= (n.4307-4175T=)
n.337T=
n.253-4175T=
n.40-4175T=
c.706T=
c.4746T= (p.Arg1582=)
c.4034-4175T= (n.4034-4175T=)
c.3381T= (p.Arg1127=)
c.5295T= (p.Arg1765=)
c.3488-4175T= (n.3488-4175T=)
c.5022T= (p.Arg1674=)
c.4476T= (p.Arg1492=)
c.4580-4175T= (n.4580-4175T=)
c.4203T= (p.Arg1401=)
c.3761-4175T= (n.3761-4175T=)
c.3654T= (p.Arg1218=)
c.5568T= (p.Arg1856=)
c.5292T= (p.Arg1764=)
9g.115046516A>CCA466912431TNCc.318-4175T>G
c.3215-4175T>G (n.3215-4175T>G)
c.3930T>G (p.Arg1310=)
c.1962T>G (p.Arg654=)
c.618T>G (p.Arg206=)
c.3977T>G
c.5019T>G (p.Arg1673=)
c.4473T>G (p.Arg1491=)
c.4307-4175T>G (n.4307-4175T>G)
n.337T>G
n.253-4175T>G
n.40-4175T>G
c.706T>G
c.4746T>G (p.Arg1582=)
c.4034-4175T>G (n.4034-4175T>G)
c.3381T>G (p.Arg1127=)
c.5295T>G (p.Arg1765=)
c.3488-4175T>G (n.3488-4175T>G)
c.5022T>G (p.Arg1674=)
c.4476T>G (p.Arg1492=)
c.4580-4175T>G (n.4580-4175T>G)
c.4203T>G (p.Arg1401=)
c.3761-4175T>G (n.3761-4175T>G)
c.3654T>G (p.Arg1218=)
c.5568T>G (p.Arg1856=)
c.5292T>G (p.Arg1764=)
9g.115046516A>GCA466912429TNCc.318-4175T>C
c.3215-4175T>C (n.3215-4175T>C)
c.3930T>C (p.Arg1310=)
c.1962T>C (p.Arg654=)
c.618T>C (p.Arg206=)
c.3977T>C
c.5019T>C (p.Arg1673=)
c.4473T>C (p.Arg1491=)
c.4307-4175T>C (n.4307-4175T>C)
n.337T>C
n.253-4175T>C
n.40-4175T>C
c.706T>C
c.4746T>C (p.Arg1582=)
c.4034-4175T>C (n.4034-4175T>C)
c.3381T>C (p.Arg1127=)
c.5295T>C (p.Arg1765=)
c.3488-4175T>C (n.3488-4175T>C)
c.5022T>C (p.Arg1674=)
c.4476T>C (p.Arg1492=)
c.4580-4175T>C (n.4580-4175T>C)
c.4203T>C (p.Arg1401=)
c.3761-4175T>C (n.3761-4175T>C)
c.3654T>C (p.Arg1218=)
c.5568T>C (p.Arg1856=)
c.5292T>C (p.Arg1764=)
 gnomAD v4
9g.115046516A>TCA466912430TNCc.318-4175T>A
c.3215-4175T>A (n.3215-4175T>A)
c.3930T>A (p.Arg1310=)
c.1962T>A (p.Arg654=)
c.618T>A (p.Arg206=)
c.3977T>A
c.5019T>A (p.Arg1673=)
c.4473T>A (p.Arg1491=)
c.4307-4175T>A (n.4307-4175T>A)
n.337T>A
n.253-4175T>A
n.40-4175T>A
c.706T>A
c.4746T>A (p.Arg1582=)
c.4034-4175T>A (n.4034-4175T>A)
c.3381T>A (p.Arg1127=)
c.5295T>A (p.Arg1765=)
c.3488-4175T>A (n.3488-4175T>A)
c.5022T>A (p.Arg1674=)
c.4476T>A (p.Arg1492=)
c.4580-4175T>A (n.4580-4175T>A)
c.4203T>A (p.Arg1401=)
c.3761-4175T>A (n.3761-4175T>A)
c.3654T>A (p.Arg1218=)
c.5568T>A (p.Arg1856=)
c.5292T>A (p.Arg1764=)
 dbSNP
9g.115046517C>ACA374630915TNCc.318-4176G>T
c.3215-4176G>T (n.3215-4176G>T)
c.3929G>T (p.Arg1310Leu)
c.1961G>T (p.Arg654Leu)
c.617G>T (p.Arg206Leu)
c.3976G>T
c.5018G>T (p.Arg1673Leu)
c.4472G>T (p.Arg1491Leu)
c.4307-4176G>T (n.4307-4176G>T)
n.336G>T
n.253-4176G>T
n.40-4176G>T
c.705G>T
c.4745G>T (p.Arg1582Leu)
c.4034-4176G>T (n.4034-4176G>T)
c.3380G>T (p.Arg1127Leu)
c.5294G>T (p.Arg1765Leu)
c.3488-4176G>T (n.3488-4176G>T)
c.5021G>T (p.Arg1674Leu)
c.4475G>T (p.Arg1492Leu)
c.4580-4176G>T (n.4580-4176G>T)
c.4202G>T (p.Arg1401Leu)
c.3761-4176G>T (n.3761-4176G>T)
c.3653G>T (p.Arg1218Leu)
c.5567G>T (p.Arg1856Leu)
c.5291G>T (p.Arg1764Leu)
9g.115046517C=CA1874118898TNCc.318-4176G=
c.3215-4176G= (n.3215-4176G=)
c.3929G= (p.Arg1310=)
c.1961G= (p.Arg654=)
c.617G= (p.Arg206=)
c.3976G=
c.5018G= (p.Arg1673=)
c.4472G= (p.Arg1491=)
c.4307-4176G= (n.4307-4176G=)
n.336G=
n.253-4176G=
n.40-4176G=
c.705G=
c.4745G= (p.Arg1582=)
c.4034-4176G= (n.4034-4176G=)
c.3380G= (p.Arg1127=)
c.5294G= (p.Arg1765=)
c.3488-4176G= (n.3488-4176G=)
c.5021G= (p.Arg1674=)
c.4475G= (p.Arg1492=)
c.4580-4176G= (n.4580-4176G=)
c.4202G= (p.Arg1401=)
c.3761-4176G= (n.3761-4176G=)
c.3653G= (p.Arg1218=)
c.5567G= (p.Arg1856=)
c.5291G= (p.Arg1764=)
9g.115046517C>GCA374630913TNCc.318-4176G>C
c.3215-4176G>C (n.3215-4176G>C)
c.3929G>C (p.Arg1310Pro)
c.1961G>C (p.Arg654Pro)
c.617G>C (p.Arg206Pro)
c.3976G>C
c.5018G>C (p.Arg1673Pro)
c.4472G>C (p.Arg1491Pro)
c.4307-4176G>C (n.4307-4176G>C)
n.336G>C
n.253-4176G>C
n.40-4176G>C
c.705G>C
c.4745G>C (p.Arg1582Pro)
c.4034-4176G>C (n.4034-4176G>C)
c.3380G>C (p.Arg1127Pro)
c.5294G>C (p.Arg1765Pro)
c.3488-4176G>C (n.3488-4176G>C)
c.5021G>C (p.Arg1674Pro)
c.4475G>C (p.Arg1492Pro)
c.4580-4176G>C (n.4580-4176G>C)
c.4202G>C (p.Arg1401Pro)
c.3761-4176G>C (n.3761-4176G>C)
c.3653G>C (p.Arg1218Pro)
c.5567G>C (p.Arg1856Pro)
c.5291G>C (p.Arg1764Pro)
 dbSNP
9g.115046517C>TCA5207771TNCc.318-4176G>A
c.3215-4176G>A (n.3215-4176G>A)
c.3929G>A (p.Arg1310His)
c.1961G>A (p.Arg654His)
c.617G>A (p.Arg206His)
c.3976G>A
c.5018G>A (p.Arg1673His)
c.4472G>A (p.Arg1491His)
c.4307-4176G>A (n.4307-4176G>A)
n.336G>A
n.253-4176G>A
n.40-4176G>A
c.705G>A
c.4745G>A (p.Arg1582His)
c.4034-4176G>A (n.4034-4176G>A)
c.3380G>A (p.Arg1127His)
c.5294G>A (p.Arg1765His)
c.3488-4176G>A (n.3488-4176G>A)
c.5021G>A (p.Arg1674His)
c.4475G>A (p.Arg1492His)
c.4580-4176G>A (n.4580-4176G>A)
c.4202G>A (p.Arg1401His)
c.3761-4176G>A (n.3761-4176G>A)
c.3653G>A (p.Arg1218His)
c.5567G>A (p.Arg1856His)
c.5291G>A (p.Arg1764His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046518G>ACA198692602TNCc.318-4177C>T
c.3215-4177C>T (n.3215-4177C>T)
c.3928C>T (p.Arg1310Cys)
c.1960C>T (p.Arg654Cys)
c.616C>T (p.Arg206Cys)
c.3975C>T
c.5017C>T (p.Arg1673Cys)
c.4471C>T (p.Arg1491Cys)
c.4307-4177C>T (n.4307-4177C>T)
n.335C>T
n.253-4177C>T
n.40-4177C>T
c.704C>T
c.4744C>T (p.Arg1582Cys)
c.4034-4177C>T (n.4034-4177C>T)
c.3379C>T (p.Arg1127Cys)
c.5293C>T (p.Arg1765Cys)
c.3488-4177C>T (n.3488-4177C>T)
c.5020C>T (p.Arg1674Cys)
c.4474C>T (p.Arg1492Cys)
c.4580-4177C>T (n.4580-4177C>T)
c.4201C>T (p.Arg1401Cys)
c.3761-4177C>T (n.3761-4177C>T)
c.3652C>T (p.Arg1218Cys)
c.5566C>T (p.Arg1856Cys)
c.5290C>T (p.Arg1764Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046518G>CCA374630917TNCc.318-4177C>G
c.3215-4177C>G (n.3215-4177C>G)
c.3928C>G (p.Arg1310Gly)
c.1960C>G (p.Arg654Gly)
c.616C>G (p.Arg206Gly)
c.3975C>G
c.5017C>G (p.Arg1673Gly)
c.4471C>G (p.Arg1491Gly)
c.4307-4177C>G (n.4307-4177C>G)
n.335C>G
n.253-4177C>G
n.40-4177C>G
c.704C>G
c.4744C>G (p.Arg1582Gly)
c.4034-4177C>G (n.4034-4177C>G)
c.3379C>G (p.Arg1127Gly)
c.5293C>G (p.Arg1765Gly)
c.3488-4177C>G (n.3488-4177C>G)
c.5020C>G (p.Arg1674Gly)
c.4474C>G (p.Arg1492Gly)
c.4580-4177C>G (n.4580-4177C>G)
c.4201C>G (p.Arg1401Gly)
c.3761-4177C>G (n.3761-4177C>G)
c.3652C>G (p.Arg1218Gly)
c.5566C>G (p.Arg1856Gly)
c.5290C>G (p.Arg1764Gly)
9g.115046518G=CA1874118899TNCc.318-4177C=
c.3215-4177C= (n.3215-4177C=)
c.3928C= (p.Arg1310=)
c.1960C= (p.Arg654=)
c.616C= (p.Arg206=)
c.3975C=
c.5017C= (p.Arg1673=)
c.4471C= (p.Arg1491=)
c.4307-4177C= (n.4307-4177C=)
n.335C=
n.253-4177C=
n.40-4177C=
c.704C=
c.4744C= (p.Arg1582=)
c.4034-4177C= (n.4034-4177C=)
c.3379C= (p.Arg1127=)
c.5293C= (p.Arg1765=)
c.3488-4177C= (n.3488-4177C=)
c.5020C= (p.Arg1674=)
c.4474C= (p.Arg1492=)
c.4580-4177C= (n.4580-4177C=)
c.4201C= (p.Arg1401=)
c.3761-4177C= (n.3761-4177C=)
c.3652C= (p.Arg1218=)
c.5566C= (p.Arg1856=)
c.5290C= (p.Arg1764=)
9g.115046518G>TCA374630919TNCc.318-4177C>A
c.3215-4177C>A (n.3215-4177C>A)
c.3928C>A (p.Arg1310Ser)
c.1960C>A (p.Arg654Ser)
c.616C>A (p.Arg206Ser)
c.3975C>A
c.5017C>A (p.Arg1673Ser)
c.4471C>A (p.Arg1491Ser)
c.4307-4177C>A (n.4307-4177C>A)
n.335C>A
n.253-4177C>A
n.40-4177C>A
c.704C>A
c.4744C>A (p.Arg1582Ser)
c.4034-4177C>A (n.4034-4177C>A)
c.3379C>A (p.Arg1127Ser)
c.5293C>A (p.Arg1765Ser)
c.3488-4177C>A (n.3488-4177C>A)
c.5020C>A (p.Arg1674Ser)
c.4474C>A (p.Arg1492Ser)
c.4580-4177C>A (n.4580-4177C>A)
c.4201C>A (p.Arg1401Ser)
c.3761-4177C>A (n.3761-4177C>A)
c.3652C>A (p.Arg1218Ser)
c.5566C>A (p.Arg1856Ser)
c.5290C>A (p.Arg1764Ser)
 dbSNP gnomAD v4
9g.115046519T>ACA374630921TNCc.318-4178A>T
c.3215-4178A>T (n.3215-4178A>T)
c.3927A>T (p.Glu1309Asp)
c.1959A>T (p.Glu653Asp)
c.615A>T (p.Glu205Asp)
c.3974A>T
c.5016A>T (p.Glu1672Asp)
c.4470A>T (p.Glu1490Asp)
c.4307-4178A>T (n.4307-4178A>T)
n.334A>T
n.253-4178A>T
n.40-4178A>T
c.703A>T
c.4743A>T (p.Glu1581Asp)
c.4034-4178A>T (n.4034-4178A>T)
c.3378A>T (p.Glu1126Asp)
c.5292A>T (p.Glu1764Asp)
c.3488-4178A>T (n.3488-4178A>T)
c.5019A>T (p.Glu1673Asp)
c.4473A>T (p.Glu1491Asp)
c.4580-4178A>T (n.4580-4178A>T)
c.4200A>T (p.Glu1400Asp)
c.3761-4178A>T (n.3761-4178A>T)
c.3651A>T (p.Glu1217Asp)
c.5565A>T (p.Glu1855Asp)
c.5289A>T (p.Glu1763Asp)
9g.115046519T>CCA466912435TNCc.318-4178A>G
c.3215-4178A>G (n.3215-4178A>G)
c.3927A>G (p.Glu1309=)
c.1959A>G (p.Glu653=)
c.615A>G (p.Glu205=)
c.3974A>G
c.5016A>G (p.Glu1672=)
c.4470A>G (p.Glu1490=)
c.4307-4178A>G (n.4307-4178A>G)
n.334A>G
n.253-4178A>G
n.40-4178A>G
c.703A>G
c.4743A>G (p.Glu1581=)
c.4034-4178A>G (n.4034-4178A>G)
c.3378A>G (p.Glu1126=)
c.5292A>G (p.Glu1764=)
c.3488-4178A>G (n.3488-4178A>G)
c.5019A>G (p.Glu1673=)
c.4473A>G (p.Glu1491=)
c.4580-4178A>G (n.4580-4178A>G)
c.4200A>G (p.Glu1400=)
c.3761-4178A>G (n.3761-4178A>G)
c.3651A>G (p.Glu1217=)
c.5565A>G (p.Glu1855=)
c.5289A>G (p.Glu1763=)
9g.115046519T>GCA374630922TNCc.318-4178A>C
c.3215-4178A>C (n.3215-4178A>C)
c.3927A>C (p.Glu1309Asp)
c.1959A>C (p.Glu653Asp)
c.615A>C (p.Glu205Asp)
c.3974A>C
c.5016A>C (p.Glu1672Asp)
c.4470A>C (p.Glu1490Asp)
c.4307-4178A>C (n.4307-4178A>C)
n.334A>C
n.253-4178A>C
n.40-4178A>C
c.703A>C
c.4743A>C (p.Glu1581Asp)
c.4034-4178A>C (n.4034-4178A>C)
c.3378A>C (p.Glu1126Asp)
c.5292A>C (p.Glu1764Asp)
c.3488-4178A>C (n.3488-4178A>C)
c.5019A>C (p.Glu1673Asp)
c.4473A>C (p.Glu1491Asp)
c.4580-4178A>C (n.4580-4178A>C)
c.4200A>C (p.Glu1400Asp)
c.3761-4178A>C (n.3761-4178A>C)
c.3651A>C (p.Glu1217Asp)
c.5565A>C (p.Glu1855Asp)
c.5289A>C (p.Glu1763Asp)
9g.115046520T>ACA374630924TNCc.318-4179A>T
c.3215-4179A>T (n.3215-4179A>T)
c.3926A>T (p.Glu1309Val)
c.1958A>T (p.Glu653Val)
c.614A>T (p.Glu205Val)
c.3973A>T
c.5015A>T (p.Glu1672Val)
c.4469A>T (p.Glu1490Val)
c.4307-4179A>T (n.4307-4179A>T)
n.333A>T
n.253-4179A>T
n.40-4179A>T
c.702A>T
c.4742A>T (p.Glu1581Val)
c.4034-4179A>T (n.4034-4179A>T)
c.3377A>T (p.Glu1126Val)
c.5291A>T (p.Glu1764Val)
c.3488-4179A>T (n.3488-4179A>T)
c.5018A>T (p.Glu1673Val)
c.4472A>T (p.Glu1491Val)
c.4580-4179A>T (n.4580-4179A>T)
c.4199A>T (p.Glu1400Val)
c.3761-4179A>T (n.3761-4179A>T)
c.3650A>T (p.Glu1217Val)
c.5564A>T (p.Glu1855Val)
c.5288A>T (p.Glu1763Val)
9g.115046520T>CCA374630925TNCc.318-4179A>G
c.3215-4179A>G (n.3215-4179A>G)
c.3926A>G (p.Glu1309Gly)
c.1958A>G (p.Glu653Gly)
c.614A>G (p.Glu205Gly)
c.3973A>G
c.5015A>G (p.Glu1672Gly)
c.4469A>G (p.Glu1490Gly)
c.4307-4179A>G (n.4307-4179A>G)
n.333A>G
n.253-4179A>G
n.40-4179A>G
c.702A>G
c.4742A>G (p.Glu1581Gly)
c.4034-4179A>G (n.4034-4179A>G)
c.3377A>G (p.Glu1126Gly)
c.5291A>G (p.Glu1764Gly)
c.3488-4179A>G (n.3488-4179A>G)
c.5018A>G (p.Glu1673Gly)
c.4472A>G (p.Glu1491Gly)
c.4580-4179A>G (n.4580-4179A>G)
c.4199A>G (p.Glu1400Gly)
c.3761-4179A>G (n.3761-4179A>G)
c.3650A>G (p.Glu1217Gly)
c.5564A>G (p.Glu1855Gly)
c.5288A>G (p.Glu1763Gly)
9g.115046520T>GCA374630927TNCc.318-4179A>C
c.3215-4179A>C (n.3215-4179A>C)
c.3926A>C (p.Glu1309Ala)
c.1958A>C (p.Glu653Ala)
c.614A>C (p.Glu205Ala)
c.3973A>C
c.5015A>C (p.Glu1672Ala)
c.4469A>C (p.Glu1490Ala)
c.4307-4179A>C (n.4307-4179A>C)
n.333A>C
n.253-4179A>C
n.40-4179A>C
c.702A>C
c.4742A>C (p.Glu1581Ala)
c.4034-4179A>C (n.4034-4179A>C)
c.3377A>C (p.Glu1126Ala)
c.5291A>C (p.Glu1764Ala)
c.3488-4179A>C (n.3488-4179A>C)
c.5018A>C (p.Glu1673Ala)
c.4472A>C (p.Glu1491Ala)
c.4580-4179A>C (n.4580-4179A>C)
c.4199A>C (p.Glu1400Ala)
c.3761-4179A>C (n.3761-4179A>C)
c.3650A>C (p.Glu1217Ala)
c.5564A>C (p.Glu1855Ala)
c.5288A>C (p.Glu1763Ala)
9g.115046521delCA2691393497TNCc.318-4180del
c.3215-4180del (n.3215-4180del)
c.3925del (p.Glu1309AsnfsTer6)
c.1957del (p.Glu653AsnfsTer6)
c.613del (p.Glu205AsnfsTer6)
c.3972del
c.5014del (p.Glu1672AsnfsTer6)
c.4468del (p.Glu1490AsnfsTer6)
c.4307-4180del (n.4307-4180del)
n.332del
n.253-4180del
n.40-4180del
c.701del
c.4741del (p.Glu1581AsnfsTer6)
c.4034-4180del (n.4034-4180del)
c.3376del (p.Glu1126AsnfsTer6)
c.5290del (p.Glu1764AsnfsTer6)
c.3488-4180del (n.3488-4180del)
c.5017del (p.Glu1673AsnfsTer6)
c.4471del (p.Glu1491AsnfsTer6)
c.4580-4180del (n.4580-4180del)
c.4198del (p.Glu1400AsnfsTer6)
c.3761-4180del (n.3761-4180del)
c.3649del (p.Glu1217AsnfsTer6)
c.5563del (p.Glu1855AsnfsTer6)
c.5287del (p.Glu1763AsnfsTer6)
 gnomAD v4
9g.115046521C>ACA374630929TNCc.318-4180G>T
c.3215-4180G>T (n.3215-4180G>T)
c.3925G>T (p.Glu1309Ter)
c.1957G>T (p.Glu653Ter)
c.613G>T (p.Glu205Ter)
c.3972G>T
c.5014G>T (p.Glu1672Ter)
c.4468G>T (p.Glu1490Ter)
c.4307-4180G>T (n.4307-4180G>T)
n.332G>T
n.253-4180G>T
n.40-4180G>T
c.701G>T
c.4741G>T (p.Glu1581Ter)
c.4034-4180G>T (n.4034-4180G>T)
c.3376G>T (p.Glu1126Ter)
c.5290G>T (p.Glu1764Ter)
c.3488-4180G>T (n.3488-4180G>T)
c.5017G>T (p.Glu1673Ter)
c.4471G>T (p.Glu1491Ter)
c.4580-4180G>T (n.4580-4180G>T)
c.4198G>T (p.Glu1400Ter)
c.3761-4180G>T (n.3761-4180G>T)
c.3649G>T (p.Glu1217Ter)
c.5563G>T (p.Glu1855Ter)
c.5287G>T (p.Glu1763Ter)
 gnomAD v4
9g.115046521C=CA1874118900TNCc.318-4180G=
c.3215-4180G= (n.3215-4180G=)
c.3925G= (p.Glu1309=)
c.1957G= (p.Glu653=)
c.613G= (p.Glu205=)
c.3972G=
c.5014G= (p.Glu1672=)
c.4468G= (p.Glu1490=)
c.4307-4180G= (n.4307-4180G=)
n.332G=
n.253-4180G=
n.40-4180G=
c.701G=
c.4741G= (p.Glu1581=)
c.4034-4180G= (n.4034-4180G=)
c.3376G= (p.Glu1126=)
c.5290G= (p.Glu1764=)
c.3488-4180G= (n.3488-4180G=)
c.5017G= (p.Glu1673=)
c.4471G= (p.Glu1491=)
c.4580-4180G= (n.4580-4180G=)
c.4198G= (p.Glu1400=)
c.3761-4180G= (n.3761-4180G=)
c.3649G= (p.Glu1217=)
c.5563G= (p.Glu1855=)
c.5287G= (p.Glu1763=)
9g.115046521C>GCA374630931TNCc.318-4180G>C
c.3215-4180G>C (n.3215-4180G>C)
c.3925G>C (p.Glu1309Gln)
c.1957G>C (p.Glu653Gln)
c.613G>C (p.Glu205Gln)
c.3972G>C
c.5014G>C (p.Glu1672Gln)
c.4468G>C (p.Glu1490Gln)
c.4307-4180G>C (n.4307-4180G>C)
n.332G>C
n.253-4180G>C
n.40-4180G>C
c.701G>C
c.4741G>C (p.Glu1581Gln)
c.4034-4180G>C (n.4034-4180G>C)
c.3376G>C (p.Glu1126Gln)
c.5290G>C (p.Glu1764Gln)
c.3488-4180G>C (n.3488-4180G>C)
c.5017G>C (p.Glu1673Gln)
c.4471G>C (p.Glu1491Gln)
c.4580-4180G>C (n.4580-4180G>C)
c.4198G>C (p.Glu1400Gln)
c.3761-4180G>C (n.3761-4180G>C)
c.3649G>C (p.Glu1217Gln)
c.5563G>C (p.Glu1855Gln)
c.5287G>C (p.Glu1763Gln)
9g.115046521C>TCA374630930TNCc.318-4180G>A
c.3215-4180G>A (n.3215-4180G>A)
c.3925G>A (p.Glu1309Lys)
c.1957G>A (p.Glu653Lys)
c.613G>A (p.Glu205Lys)
c.3972G>A
c.5014G>A (p.Glu1672Lys)
c.4468G>A (p.Glu1490Lys)
c.4307-4180G>A (n.4307-4180G>A)
n.332G>A
n.253-4180G>A
n.40-4180G>A
c.701G>A
c.4741G>A (p.Glu1581Lys)
c.4034-4180G>A (n.4034-4180G>A)
c.3376G>A (p.Glu1126Lys)
c.5290G>A (p.Glu1764Lys)
c.3488-4180G>A (n.3488-4180G>A)
c.5017G>A (p.Glu1673Lys)
c.4471G>A (p.Glu1491Lys)
c.4580-4180G>A (n.4580-4180G>A)
c.4198G>A (p.Glu1400Lys)
c.3761-4180G>A (n.3761-4180G>A)
c.3649G>A (p.Glu1217Lys)
c.5563G>A (p.Glu1855Lys)
c.5287G>A (p.Glu1763Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115046522G>ACA466912437TNCc.318-4181C>T
c.3215-4181C>T (n.3215-4181C>T)
c.3924C>T (p.Pro1308=)
c.1956C>T (p.Pro652=)
c.612C>T (p.Pro204=)
c.3971C>T
c.5013C>T (p.Pro1671=)
c.4467C>T (p.Pro1489=)
c.4307-4181C>T (n.4307-4181C>T)
n.331C>T
n.253-4181C>T
n.40-4181C>T
c.700C>T
c.4740C>T (p.Pro1580=)
c.4034-4181C>T (n.4034-4181C>T)
c.3375C>T (p.Pro1125=)
c.5289C>T (p.Pro1763=)
c.3488-4181C>T (n.3488-4181C>T)
c.5016C>T (p.Pro1672=)
c.4470C>T (p.Pro1490=)
c.4580-4181C>T (n.4580-4181C>T)
c.4197C>T (p.Pro1399=)
c.3761-4181C>T (n.3761-4181C>T)
c.3648C>T (p.Pro1216=)
c.5562C>T (p.Pro1854=)
c.5286C>T (p.Pro1762=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115046522G>CCA466912438TNCc.318-4181C>G
c.3215-4181C>G (n.3215-4181C>G)
c.3924C>G (p.Pro1308=)
c.1956C>G (p.Pro652=)
c.612C>G (p.Pro204=)
c.3971C>G
c.5013C>G (p.Pro1671=)
c.4467C>G (p.Pro1489=)
c.4307-4181C>G (n.4307-4181C>G)
n.331C>G
n.253-4181C>G
n.40-4181C>G
c.700C>G
c.4740C>G (p.Pro1580=)
c.4034-4181C>G (n.4034-4181C>G)
c.3375C>G (p.Pro1125=)
c.5289C>G (p.Pro1763=)
c.3488-4181C>G (n.3488-4181C>G)
c.5016C>G (p.Pro1672=)
c.4470C>G (p.Pro1490=)
c.4580-4181C>G (n.4580-4181C>G)
c.4197C>G (p.Pro1399=)
c.3761-4181C>G (n.3761-4181C>G)
c.3648C>G (p.Pro1216=)
c.5562C>G (p.Pro1854=)
c.5286C>G (p.Pro1762=)
 gnomAD v4
9g.115046522G=CA1874118901TNCc.318-4181C=
c.3215-4181C= (n.3215-4181C=)
c.3924C= (p.Pro1308=)
c.1956C= (p.Pro652=)
c.612C= (p.Pro204=)
c.3971C=
c.5013C= (p.Pro1671=)
c.4467C= (p.Pro1489=)
c.4307-4181C= (n.4307-4181C=)
n.331C=
n.253-4181C=
n.40-4181C=
c.700C=
c.4740C= (p.Pro1580=)
c.4034-4181C= (n.4034-4181C=)
c.3375C= (p.Pro1125=)
c.5289C= (p.Pro1763=)
c.3488-4181C= (n.3488-4181C=)
c.5016C= (p.Pro1672=)
c.4470C= (p.Pro1490=)
c.4580-4181C= (n.4580-4181C=)
c.4197C= (p.Pro1399=)
c.3761-4181C= (n.3761-4181C=)
c.3648C= (p.Pro1216=)
c.5562C= (p.Pro1854=)
c.5286C= (p.Pro1762=)
9g.115046522G>TCA5207772TNCc.318-4181C>A
c.3215-4181C>A (n.3215-4181C>A)
c.3924C>A (p.Pro1308=)
c.1956C>A (p.Pro652=)
c.612C>A (p.Pro204=)
c.3971C>A
c.5013C>A (p.Pro1671=)
c.4467C>A (p.Pro1489=)
c.4307-4181C>A (n.4307-4181C>A)
n.331C>A
n.253-4181C>A
n.40-4181C>A
c.700C>A
c.4740C>A (p.Pro1580=)
c.4034-4181C>A (n.4034-4181C>A)
c.3375C>A (p.Pro1125=)
c.5289C>A (p.Pro1763=)
c.3488-4181C>A (n.3488-4181C>A)
c.5016C>A (p.Pro1672=)
c.4470C>A (p.Pro1490=)
c.4580-4181C>A (n.4580-4181C>A)
c.4197C>A (p.Pro1399=)
c.3761-4181C>A (n.3761-4181C>A)
c.3648C>A (p.Pro1216=)
c.5562C>A (p.Pro1854=)
c.5286C>A (p.Pro1762=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046526dupCA658773192TNCc.318-4181dup
c.3215-4181dup (n.3215-4181dup)
c.3924dup (p.Glu1309ArgfsTer14)
c.1956dup (p.Glu653ArgfsTer14)
c.612dup (p.Glu205ArgfsTer14)
c.3971dup
c.5013dup (p.Glu1672ArgfsTer14)
c.4467dup (p.Glu1490ArgfsTer14)
c.4307-4181dup (n.4307-4181dup)
n.331dup
n.253-4181dup
n.40-4181dup
c.700dup
c.4740dup (p.Glu1581ArgfsTer14)
c.4034-4181dup (n.4034-4181dup)
c.3375dup (p.Glu1126ArgfsTer14)
c.5289dup (p.Glu1764ArgfsTer14)
c.3488-4181dup (n.3488-4181dup)
c.5016dup (p.Glu1673ArgfsTer14)
c.4470dup (p.Glu1491ArgfsTer14)
c.4580-4181dup (n.4580-4181dup)
c.4197dup (p.Glu1400ArgfsTer14)
c.3761-4181dup (n.3761-4181dup)
c.3648dup (p.Glu1217ArgfsTer14)
c.5562dup (p.Glu1855ArgfsTer14)
c.5286dup (p.Glu1763ArgfsTer14)
9g.115046523G>ACA374630934TNCc.318-4182C>T
c.3215-4182C>T (n.3215-4182C>T)
c.3923C>T (p.Pro1308Leu)
c.1955C>T (p.Pro652Leu)
c.611C>T (p.Pro204Leu)
c.3970C>T
c.5012C>T (p.Pro1671Leu)
c.4466C>T (p.Pro1489Leu)
c.4307-4182C>T (n.4307-4182C>T)
n.330C>T
n.253-4182C>T
n.40-4182C>T
c.699C>T
c.4739C>T (p.Pro1580Leu)
c.4034-4182C>T (n.4034-4182C>T)
c.3374C>T (p.Pro1125Leu)
c.5288C>T (p.Pro1763Leu)
c.3488-4182C>T (n.3488-4182C>T)
c.5015C>T (p.Pro1672Leu)
c.4469C>T (p.Pro1490Leu)
c.4580-4182C>T (n.4580-4182C>T)
c.4196C>T (p.Pro1399Leu)
c.3761-4182C>T (n.3761-4182C>T)
c.3647C>T (p.Pro1216Leu)
c.5561C>T (p.Pro1854Leu)
c.5285C>T (p.Pro1762Leu)
9g.115046523G>CCA374630935TNCc.318-4182C>G
c.3215-4182C>G (n.3215-4182C>G)
c.3923C>G (p.Pro1308Arg)
c.1955C>G (p.Pro652Arg)
c.611C>G (p.Pro204Arg)
c.3970C>G
c.5012C>G (p.Pro1671Arg)
c.4466C>G (p.Pro1489Arg)
c.4307-4182C>G (n.4307-4182C>G)
n.330C>G
n.253-4182C>G
n.40-4182C>G
c.699C>G
c.4739C>G (p.Pro1580Arg)
c.4034-4182C>G (n.4034-4182C>G)
c.3374C>G (p.Pro1125Arg)
c.5288C>G (p.Pro1763Arg)
c.3488-4182C>G (n.3488-4182C>G)
c.5015C>G (p.Pro1672Arg)
c.4469C>G (p.Pro1490Arg)
c.4580-4182C>G (n.4580-4182C>G)
c.4196C>G (p.Pro1399Arg)
c.3761-4182C>G (n.3761-4182C>G)
c.3647C>G (p.Pro1216Arg)
c.5561C>G (p.Pro1854Arg)
c.5285C>G (p.Pro1762Arg)
9g.115046523G>TCA374630937TNCc.318-4182C>A
c.3215-4182C>A (n.3215-4182C>A)
c.3923C>A (p.Pro1308His)
c.1955C>A (p.Pro652His)
c.611C>A (p.Pro204His)
c.3970C>A
c.5012C>A (p.Pro1671His)
c.4466C>A (p.Pro1489His)
c.4307-4182C>A (n.4307-4182C>A)
n.330C>A
n.253-4182C>A
n.40-4182C>A
c.699C>A
c.4739C>A (p.Pro1580His)
c.4034-4182C>A (n.4034-4182C>A)
c.3374C>A (p.Pro1125His)
c.5288C>A (p.Pro1763His)
c.3488-4182C>A (n.3488-4182C>A)
c.5015C>A (p.Pro1672His)
c.4469C>A (p.Pro1490His)
c.4580-4182C>A (n.4580-4182C>A)
c.4196C>A (p.Pro1399His)
c.3761-4182C>A (n.3761-4182C>A)
c.3647C>A (p.Pro1216His)
c.5561C>A (p.Pro1854His)
c.5285C>A (p.Pro1762His)
9g.115046524G>ACA374630938TNCc.318-4183C>T
c.3215-4183C>T (n.3215-4183C>T)
c.3922C>T (p.Pro1308Ser)
c.1954C>T (p.Pro652Ser)
c.610C>T (p.Pro204Ser)
c.3969C>T
c.5011C>T (p.Pro1671Ser)
c.4465C>T (p.Pro1489Ser)
c.4307-4183C>T (n.4307-4183C>T)
n.329C>T
n.253-4183C>T
n.40-4183C>T
c.698C>T
c.4738C>T (p.Pro1580Ser)
c.4034-4183C>T (n.4034-4183C>T)
c.3373C>T (p.Pro1125Ser)
c.5287C>T (p.Pro1763Ser)
c.3488-4183C>T (n.3488-4183C>T)
c.5014C>T (p.Pro1672Ser)
c.4468C>T (p.Pro1490Ser)
c.4580-4183C>T (n.4580-4183C>T)
c.4195C>T (p.Pro1399Ser)
c.3761-4183C>T (n.3761-4183C>T)
c.3646C>T (p.Pro1216Ser)
c.5560C>T (p.Pro1854Ser)
c.5284C>T (p.Pro1762Ser)
 gnomAD v4
9g.115046524G>CCA374630942TNCc.318-4183C>G
c.3215-4183C>G (n.3215-4183C>G)
c.3922C>G (p.Pro1308Ala)
c.1954C>G (p.Pro652Ala)
c.610C>G (p.Pro204Ala)
c.3969C>G
c.5011C>G (p.Pro1671Ala)
c.4465C>G (p.Pro1489Ala)
c.4307-4183C>G (n.4307-4183C>G)
n.329C>G
n.253-4183C>G
n.40-4183C>G
c.698C>G
c.4738C>G (p.Pro1580Ala)
c.4034-4183C>G (n.4034-4183C>G)
c.3373C>G (p.Pro1125Ala)
c.5287C>G (p.Pro1763Ala)
c.3488-4183C>G (n.3488-4183C>G)
c.5014C>G (p.Pro1672Ala)
c.4468C>G (p.Pro1490Ala)
c.4580-4183C>G (n.4580-4183C>G)
c.4195C>G (p.Pro1399Ala)
c.3761-4183C>G (n.3761-4183C>G)
c.3646C>G (p.Pro1216Ala)
c.5560C>G (p.Pro1854Ala)
c.5284C>G (p.Pro1762Ala)
9g.115046524G>TCA374630940TNCc.318-4183C>A
c.3215-4183C>A (n.3215-4183C>A)
c.3922C>A (p.Pro1308Thr)
c.1954C>A (p.Pro652Thr)
c.610C>A (p.Pro204Thr)
c.3969C>A
c.5011C>A (p.Pro1671Thr)
c.4465C>A (p.Pro1489Thr)
c.4307-4183C>A (n.4307-4183C>A)
n.329C>A
n.253-4183C>A
n.40-4183C>A
c.698C>A
c.4738C>A (p.Pro1580Thr)
c.4034-4183C>A (n.4034-4183C>A)
c.3373C>A (p.Pro1125Thr)
c.5287C>A (p.Pro1763Thr)
c.3488-4183C>A (n.3488-4183C>A)
c.5014C>A (p.Pro1672Thr)
c.4468C>A (p.Pro1490Thr)
c.4580-4183C>A (n.4580-4183C>A)
c.4195C>A (p.Pro1399Thr)
c.3761-4183C>A (n.3761-4183C>A)
c.3646C>A (p.Pro1216Thr)
c.5560C>A (p.Pro1854Thr)
c.5284C>A (p.Pro1762Thr)
9g.115046525G>ACA466912440TNCc.318-4184C>T
c.3215-4184C>T (n.3215-4184C>T)
c.3921C>T (p.Ala1307=)
c.1953C>T (p.Ala651=)
c.609C>T (p.Ala203=)
c.3968C>T
c.5010C>T (p.Ala1670=)
c.4464C>T (p.Ala1488=)
c.4307-4184C>T (n.4307-4184C>T)
n.328C>T
n.253-4184C>T
n.40-4184C>T
c.697C>T
c.4737C>T (p.Ala1579=)
c.4034-4184C>T (n.4034-4184C>T)
c.3372C>T (p.Ala1124=)
c.5286C>T (p.Ala1762=)
c.3488-4184C>T (n.3488-4184C>T)
c.5013C>T (p.Ala1671=)
c.4467C>T (p.Ala1489=)
c.4580-4184C>T (n.4580-4184C>T)
c.4194C>T (p.Ala1398=)
c.3761-4184C>T (n.3761-4184C>T)
c.3645C>T (p.Ala1215=)
c.5559C>T (p.Ala1853=)
c.5283C>T (p.Ala1761=)
 gnomAD v4
9g.115046525G>CCA466912441TNCc.318-4184C>G
c.3215-4184C>G (n.3215-4184C>G)
c.3921C>G (p.Ala1307=)
c.1953C>G (p.Ala651=)
c.609C>G (p.Ala203=)
c.3968C>G
c.5010C>G (p.Ala1670=)
c.4464C>G (p.Ala1488=)
c.4307-4184C>G (n.4307-4184C>G)
n.328C>G
n.253-4184C>G
n.40-4184C>G
c.697C>G
c.4737C>G (p.Ala1579=)
c.4034-4184C>G (n.4034-4184C>G)
c.3372C>G (p.Ala1124=)
c.5286C>G (p.Ala1762=)
c.3488-4184C>G (n.3488-4184C>G)
c.5013C>G (p.Ala1671=)
c.4467C>G (p.Ala1489=)
c.4580-4184C>G (n.4580-4184C>G)
c.4194C>G (p.Ala1398=)
c.3761-4184C>G (n.3761-4184C>G)
c.3645C>G (p.Ala1215=)
c.5559C>G (p.Ala1853=)
c.5283C>G (p.Ala1761=)
9g.115046525G>TCA466912442TNCc.318-4184C>A
c.3215-4184C>A (n.3215-4184C>A)
c.3921C>A (p.Ala1307=)
c.1953C>A (p.Ala651=)
c.609C>A (p.Ala203=)
c.3968C>A
c.5010C>A (p.Ala1670=)
c.4464C>A (p.Ala1488=)
c.4307-4184C>A (n.4307-4184C>A)
n.328C>A
n.253-4184C>A
n.40-4184C>A
c.697C>A
c.4737C>A (p.Ala1579=)
c.4034-4184C>A (n.4034-4184C>A)
c.3372C>A (p.Ala1124=)
c.5286C>A (p.Ala1762=)
c.3488-4184C>A (n.3488-4184C>A)
c.5013C>A (p.Ala1671=)
c.4467C>A (p.Ala1489=)
c.4580-4184C>A (n.4580-4184C>A)
c.4194C>A (p.Ala1398=)
c.3761-4184C>A (n.3761-4184C>A)
c.3645C>A (p.Ala1215=)
c.5559C>A (p.Ala1853=)
c.5283C>A (p.Ala1761=)
9g.115046526G>ACA374630944TNCc.318-4185C>T
c.3215-4185C>T (n.3215-4185C>T)
c.3920C>T (p.Ala1307Val)
c.1952C>T (p.Ala651Val)
c.608C>T (p.Ala203Val)
c.3967C>T
c.5009C>T (p.Ala1670Val)
c.4463C>T (p.Ala1488Val)
c.4307-4185C>T (n.4307-4185C>T)
n.327C>T
n.253-4185C>T
n.40-4185C>T
c.696C>T
c.4736C>T (p.Ala1579Val)
c.4034-4185C>T (n.4034-4185C>T)
c.3371C>T (p.Ala1124Val)
c.5285C>T (p.Ala1762Val)
c.3488-4185C>T (n.3488-4185C>T)
c.5012C>T (p.Ala1671Val)
c.4466C>T (p.Ala1489Val)
c.4580-4185C>T (n.4580-4185C>T)
c.4193C>T (p.Ala1398Val)
c.3761-4185C>T (n.3761-4185C>T)
c.3644C>T (p.Ala1215Val)
c.5558C>T (p.Ala1853Val)
c.5282C>T (p.Ala1761Val)
 dbSNP gnomAD v4
9g.115046526G>CCA374630945TNCc.318-4185C>G
c.3215-4185C>G (n.3215-4185C>G)
c.3920C>G (p.Ala1307Gly)
c.1952C>G (p.Ala651Gly)
c.608C>G (p.Ala203Gly)
c.3967C>G
c.5009C>G (p.Ala1670Gly)
c.4463C>G (p.Ala1488Gly)
c.4307-4185C>G (n.4307-4185C>G)
n.327C>G
n.253-4185C>G
n.40-4185C>G
c.696C>G
c.4736C>G (p.Ala1579Gly)
c.4034-4185C>G (n.4034-4185C>G)
c.3371C>G (p.Ala1124Gly)
c.5285C>G (p.Ala1762Gly)
c.3488-4185C>G (n.3488-4185C>G)
c.5012C>G (p.Ala1671Gly)
c.4466C>G (p.Ala1489Gly)
c.4580-4185C>G (n.4580-4185C>G)
c.4193C>G (p.Ala1398Gly)
c.3761-4185C>G (n.3761-4185C>G)
c.3644C>G (p.Ala1215Gly)
c.5558C>G (p.Ala1853Gly)
c.5282C>G (p.Ala1761Gly)
9g.115046526G=CA1874118902TNCc.318-4185C=
c.3215-4185C= (n.3215-4185C=)
c.3920C= (p.Ala1307=)
c.1952C= (p.Ala651=)
c.608C= (p.Ala203=)
c.3967C=
c.5009C= (p.Ala1670=)
c.4463C= (p.Ala1488=)
c.4307-4185C= (n.4307-4185C=)
n.327C=
n.253-4185C=
n.40-4185C=
c.696C=
c.4736C= (p.Ala1579=)
c.4034-4185C= (n.4034-4185C=)
c.3371C= (p.Ala1124=)
c.5285C= (p.Ala1762=)
c.3488-4185C= (n.3488-4185C=)
c.5012C= (p.Ala1671=)
c.4466C= (p.Ala1489=)
c.4580-4185C= (n.4580-4185C=)
c.4193C= (p.Ala1398=)
c.3761-4185C= (n.3761-4185C=)
c.3644C= (p.Ala1215=)
c.5558C= (p.Ala1853=)
c.5282C= (p.Ala1761=)
9g.115046526G>TCA374630946TNCc.318-4185C>A
c.3215-4185C>A (n.3215-4185C>A)
c.3920C>A (p.Ala1307Asp)
c.1952C>A (p.Ala651Asp)
c.608C>A (p.Ala203Asp)
c.3967C>A
c.5009C>A (p.Ala1670Asp)
c.4463C>A (p.Ala1488Asp)
c.4307-4185C>A (n.4307-4185C>A)
n.327C>A
n.253-4185C>A
n.40-4185C>A
c.696C>A
c.4736C>A (p.Ala1579Asp)
c.4034-4185C>A (n.4034-4185C>A)
c.3371C>A (p.Ala1124Asp)
c.5285C>A (p.Ala1762Asp)
c.3488-4185C>A (n.3488-4185C>A)
c.5012C>A (p.Ala1671Asp)
c.4466C>A (p.Ala1489Asp)
c.4580-4185C>A (n.4580-4185C>A)
c.4193C>A (p.Ala1398Asp)
c.3761-4185C>A (n.3761-4185C>A)
c.3644C>A (p.Ala1215Asp)
c.5558C>A (p.Ala1853Asp)
c.5282C>A (p.Ala1761Asp)
9g.115046527C>ACA374630948TNCc.318-4186G>T
c.3215-4186G>T (n.3215-4186G>T)
c.3919G>T (p.Ala1307Ser)
c.1951G>T (p.Ala651Ser)
c.607G>T (p.Ala203Ser)
c.3966G>T
c.5008G>T (p.Ala1670Ser)
c.4462G>T (p.Ala1488Ser)
c.4307-4186G>T (n.4307-4186G>T)
n.326G>T
n.253-4186G>T
n.40-4186G>T
c.695G>T
c.4735G>T (p.Ala1579Ser)
c.4034-4186G>T (n.4034-4186G>T)
c.3370G>T (p.Ala1124Ser)
c.5284G>T (p.Ala1762Ser)
c.3488-4186G>T (n.3488-4186G>T)
c.5011G>T (p.Ala1671Ser)
c.4465G>T (p.Ala1489Ser)
c.4580-4186G>T (n.4580-4186G>T)
c.4192G>T (p.Ala1398Ser)
c.3761-4186G>T (n.3761-4186G>T)
c.3643G>T (p.Ala1215Ser)
c.5557G>T (p.Ala1853Ser)
c.5281G>T (p.Ala1761Ser)
9g.115046527C=CA1874118903TNCc.318-4186G=
c.3215-4186G= (n.3215-4186G=)
c.3919G= (p.Ala1307=)
c.1951G= (p.Ala651=)
c.607G= (p.Ala203=)
c.3966G=
c.5008G= (p.Ala1670=)
c.4462G= (p.Ala1488=)
c.4307-4186G= (n.4307-4186G=)
n.326G=
n.253-4186G=
n.40-4186G=
c.695G=
c.4735G= (p.Ala1579=)
c.4034-4186G= (n.4034-4186G=)
c.3370G= (p.Ala1124=)
c.5284G= (p.Ala1762=)
c.3488-4186G= (n.3488-4186G=)
c.5011G= (p.Ala1671=)
c.4465G= (p.Ala1489=)
c.4580-4186G= (n.4580-4186G=)
c.4192G= (p.Ala1398=)
c.3761-4186G= (n.3761-4186G=)
c.3643G= (p.Ala1215=)
c.5557G= (p.Ala1853=)
c.5281G= (p.Ala1761=)
9g.115046527C>GCA374630950TNCc.318-4186G>C
c.3215-4186G>C (n.3215-4186G>C)
c.3919G>C (p.Ala1307Pro)
c.1951G>C (p.Ala651Pro)
c.607G>C (p.Ala203Pro)
c.3966G>C
c.5008G>C (p.Ala1670Pro)
c.4462G>C (p.Ala1488Pro)
c.4307-4186G>C (n.4307-4186G>C)
n.326G>C
n.253-4186G>C
n.40-4186G>C
c.695G>C
c.4735G>C (p.Ala1579Pro)
c.4034-4186G>C (n.4034-4186G>C)
c.3370G>C (p.Ala1124Pro)
c.5284G>C (p.Ala1762Pro)
c.3488-4186G>C (n.3488-4186G>C)
c.5011G>C (p.Ala1671Pro)
c.4465G>C (p.Ala1489Pro)
c.4580-4186G>C (n.4580-4186G>C)
c.4192G>C (p.Ala1398Pro)
c.3761-4186G>C (n.3761-4186G>C)
c.3643G>C (p.Ala1215Pro)
c.5557G>C (p.Ala1853Pro)
c.5281G>C (p.Ala1761Pro)
9g.115046527C>TCA5207773TNCc.318-4186G>A
c.3215-4186G>A (n.3215-4186G>A)
c.3919G>A (p.Ala1307Thr)
c.1951G>A (p.Ala651Thr)
c.607G>A (p.Ala203Thr)
c.3966G>A
c.5008G>A (p.Ala1670Thr)
c.4462G>A (p.Ala1488Thr)
c.4307-4186G>A (n.4307-4186G>A)
n.326G>A
n.253-4186G>A
n.40-4186G>A
c.695G>A
c.4735G>A (p.Ala1579Thr)
c.4034-4186G>A (n.4034-4186G>A)
c.3370G>A (p.Ala1124Thr)
c.5284G>A (p.Ala1762Thr)
c.3488-4186G>A (n.3488-4186G>A)
c.5011G>A (p.Ala1671Thr)
c.4465G>A (p.Ala1489Thr)
c.4580-4186G>A (n.4580-4186G>A)
c.4192G>A (p.Ala1398Thr)
c.3761-4186G>A (n.3761-4186G>A)
c.3643G>A (p.Ala1215Thr)
c.5557G>A (p.Ala1853Thr)
c.5281G>A (p.Ala1761Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046528A>CCA466912444TNCc.318-4187T>G
c.3215-4187T>G (n.3215-4187T>G)
c.3918T>G (p.Leu1306=)
c.1950T>G (p.Leu650=)
c.606T>G (p.Leu202=)
c.3965T>G
c.5007T>G (p.Leu1669=)
c.4461T>G (p.Leu1487=)
c.4307-4187T>G (n.4307-4187T>G)
n.325T>G
n.253-4187T>G
n.40-4187T>G
c.694T>G
c.4734T>G (p.Leu1578=)
c.4034-4187T>G (n.4034-4187T>G)
c.3369T>G (p.Leu1123=)
c.5283T>G (p.Leu1761=)
c.3488-4187T>G (n.3488-4187T>G)
c.5010T>G (p.Leu1670=)
c.4464T>G (p.Leu1488=)
c.4580-4187T>G (n.4580-4187T>G)
c.4191T>G (p.Leu1397=)
c.3761-4187T>G (n.3761-4187T>G)
c.3642T>G (p.Leu1214=)
c.5556T>G (p.Leu1852=)
c.5280T>G (p.Leu1760=)
9g.115046528A>GCA466912445TNCc.318-4187T>C
c.3215-4187T>C (n.3215-4187T>C)
c.3918T>C (p.Leu1306=)
c.1950T>C (p.Leu650=)
c.606T>C (p.Leu202=)
c.3965T>C
c.5007T>C (p.Leu1669=)
c.4461T>C (p.Leu1487=)
c.4307-4187T>C (n.4307-4187T>C)
n.325T>C
n.253-4187T>C
n.40-4187T>C
c.694T>C
c.4734T>C (p.Leu1578=)
c.4034-4187T>C (n.4034-4187T>C)
c.3369T>C (p.Leu1123=)
c.5283T>C (p.Leu1761=)
c.3488-4187T>C (n.3488-4187T>C)
c.5010T>C (p.Leu1670=)
c.4464T>C (p.Leu1488=)
c.4580-4187T>C (n.4580-4187T>C)
c.4191T>C (p.Leu1397=)
c.3761-4187T>C (n.3761-4187T>C)
c.3642T>C (p.Leu1214=)
c.5556T>C (p.Leu1852=)
c.5280T>C (p.Leu1760=)
9g.115046528A>TCA466912446TNCc.318-4187T>A
c.3215-4187T>A (n.3215-4187T>A)
c.3918T>A (p.Leu1306=)
c.1950T>A (p.Leu650=)
c.606T>A (p.Leu202=)
c.3965T>A
c.5007T>A (p.Leu1669=)
c.4461T>A (p.Leu1487=)
c.4307-4187T>A (n.4307-4187T>A)
n.325T>A
n.253-4187T>A
n.40-4187T>A
c.694T>A
c.4734T>A (p.Leu1578=)
c.4034-4187T>A (n.4034-4187T>A)
c.3369T>A (p.Leu1123=)
c.5283T>A (p.Leu1761=)
c.3488-4187T>A (n.3488-4187T>A)
c.5010T>A (p.Leu1670=)
c.4464T>A (p.Leu1488=)
c.4580-4187T>A (n.4580-4187T>A)
c.4191T>A (p.Leu1397=)
c.3761-4187T>A (n.3761-4187T>A)
c.3642T>A (p.Leu1214=)
c.5556T>A (p.Leu1852=)
c.5280T>A (p.Leu1760=)
9g.115046529A>CCA374630952TNCc.318-4188T>G
c.3215-4188T>G (n.3215-4188T>G)
c.3917T>G (p.Leu1306Arg)
c.1949T>G (p.Leu650Arg)
c.605T>G (p.Leu202Arg)
c.3964T>G
c.5006T>G (p.Leu1669Arg)
c.4460T>G (p.Leu1487Arg)
c.4307-4188T>G (n.4307-4188T>G)
n.324T>G
n.253-4188T>G
n.40-4188T>G
c.693T>G
c.4733T>G (p.Leu1578Arg)
c.4034-4188T>G (n.4034-4188T>G)
c.3368T>G (p.Leu1123Arg)
c.5282T>G (p.Leu1761Arg)
c.3488-4188T>G (n.3488-4188T>G)
c.5009T>G (p.Leu1670Arg)
c.4463T>G (p.Leu1488Arg)
c.4580-4188T>G (n.4580-4188T>G)
c.4190T>G (p.Leu1397Arg)
c.3761-4188T>G (n.3761-4188T>G)
c.3641T>G (p.Leu1214Arg)
c.5555T>G (p.Leu1852Arg)
c.5279T>G (p.Leu1760Arg)
9g.115046529A>GCA374630954TNCc.318-4188T>C
c.3215-4188T>C (n.3215-4188T>C)
c.3917T>C (p.Leu1306Pro)
c.1949T>C (p.Leu650Pro)
c.605T>C (p.Leu202Pro)
c.3964T>C
c.5006T>C (p.Leu1669Pro)
c.4460T>C (p.Leu1487Pro)
c.4307-4188T>C (n.4307-4188T>C)
n.324T>C
n.253-4188T>C
n.40-4188T>C
c.693T>C
c.4733T>C (p.Leu1578Pro)
c.4034-4188T>C (n.4034-4188T>C)
c.3368T>C (p.Leu1123Pro)
c.5282T>C (p.Leu1761Pro)
c.3488-4188T>C (n.3488-4188T>C)
c.5009T>C (p.Leu1670Pro)
c.4463T>C (p.Leu1488Pro)
c.4580-4188T>C (n.4580-4188T>C)
c.4190T>C (p.Leu1397Pro)
c.3761-4188T>C (n.3761-4188T>C)
c.3641T>C (p.Leu1214Pro)
c.5555T>C (p.Leu1852Pro)
c.5279T>C (p.Leu1760Pro)
9g.115046529A>TCA374630955TNCc.318-4188T>A
c.3215-4188T>A (n.3215-4188T>A)
c.3917T>A (p.Leu1306His)
c.1949T>A (p.Leu650His)
c.605T>A (p.Leu202His)
c.3964T>A
c.5006T>A (p.Leu1669His)
c.4460T>A (p.Leu1487His)
c.4307-4188T>A (n.4307-4188T>A)
n.324T>A
n.253-4188T>A
n.40-4188T>A
c.693T>A
c.4733T>A (p.Leu1578His)
c.4034-4188T>A (n.4034-4188T>A)
c.3368T>A (p.Leu1123His)
c.5282T>A (p.Leu1761His)
c.3488-4188T>A (n.3488-4188T>A)
c.5009T>A (p.Leu1670His)
c.4463T>A (p.Leu1488His)
c.4580-4188T>A (n.4580-4188T>A)
c.4190T>A (p.Leu1397His)
c.3761-4188T>A (n.3761-4188T>A)
c.3641T>A (p.Leu1214His)
c.5555T>A (p.Leu1852His)
c.5279T>A (p.Leu1760His)
9g.115046530G>ACA374630957TNCc.318-4189C>T
c.3215-4189C>T (n.3215-4189C>T)
c.3916C>T (p.Leu1306Phe)
c.1948C>T (p.Leu650Phe)
c.604C>T (p.Leu202Phe)
c.3963C>T
c.5005C>T (p.Leu1669Phe)
c.4459C>T (p.Leu1487Phe)
c.4307-4189C>T (n.4307-4189C>T)
n.323C>T
n.253-4189C>T
n.40-4189C>T
c.692C>T
c.4732C>T (p.Leu1578Phe)
c.4034-4189C>T (n.4034-4189C>T)
c.3367C>T (p.Leu1123Phe)
c.5281C>T (p.Leu1761Phe)
c.3488-4189C>T (n.3488-4189C>T)
c.5008C>T (p.Leu1670Phe)
c.4462C>T (p.Leu1488Phe)
c.4580-4189C>T (n.4580-4189C>T)
c.4189C>T (p.Leu1397Phe)
c.3761-4189C>T (n.3761-4189C>T)
c.3640C>T (p.Leu1214Phe)
c.5554C>T (p.Leu1852Phe)
c.5278C>T (p.Leu1760Phe)
9g.115046530G>CCA374630959TNCc.318-4189C>G
c.3215-4189C>G (n.3215-4189C>G)
c.3916C>G (p.Leu1306Val)
c.1948C>G (p.Leu650Val)
c.604C>G (p.Leu202Val)
c.3963C>G
c.5005C>G (p.Leu1669Val)
c.4459C>G (p.Leu1487Val)
c.4307-4189C>G (n.4307-4189C>G)
n.323C>G
n.253-4189C>G
n.40-4189C>G
c.692C>G
c.4732C>G (p.Leu1578Val)
c.4034-4189C>G (n.4034-4189C>G)
c.3367C>G (p.Leu1123Val)
c.5281C>G (p.Leu1761Val)
c.3488-4189C>G (n.3488-4189C>G)
c.5008C>G (p.Leu1670Val)
c.4462C>G (p.Leu1488Val)
c.4580-4189C>G (n.4580-4189C>G)
c.4189C>G (p.Leu1397Val)
c.3761-4189C>G (n.3761-4189C>G)
c.3640C>G (p.Leu1214Val)
c.5554C>G (p.Leu1852Val)
c.5278C>G (p.Leu1760Val)
9g.115046530G>TCA374630960TNCc.318-4189C>A
c.3215-4189C>A (n.3215-4189C>A)
c.3916C>A (p.Leu1306Ile)
c.1948C>A (p.Leu650Ile)
c.604C>A (p.Leu202Ile)
c.3963C>A
c.5005C>A (p.Leu1669Ile)
c.4459C>A (p.Leu1487Ile)
c.4307-4189C>A (n.4307-4189C>A)
n.323C>A
n.253-4189C>A
n.40-4189C>A
c.692C>A
c.4732C>A (p.Leu1578Ile)
c.4034-4189C>A (n.4034-4189C>A)
c.3367C>A (p.Leu1123Ile)
c.5281C>A (p.Leu1761Ile)
c.3488-4189C>A (n.3488-4189C>A)
c.5008C>A (p.Leu1670Ile)
c.4462C>A (p.Leu1488Ile)
c.4580-4189C>A (n.4580-4189C>A)
c.4189C>A (p.Leu1397Ile)
c.3761-4189C>A (n.3761-4189C>A)
c.3640C>A (p.Leu1214Ile)
c.5554C>A (p.Leu1852Ile)
c.5278C>A (p.Leu1760Ile)
9g.115046531T>ACA466912448TNCc.318-4190A>T
c.3215-4190A>T (n.3215-4190A>T)
c.3915A>T (p.Leu1305=)
c.1947A>T (p.Leu649=)
c.603A>T (p.Leu201=)
c.3962A>T
c.5004A>T (p.Leu1668=)
c.4458A>T (p.Leu1486=)
c.4307-4190A>T (n.4307-4190A>T)
n.322A>T
n.253-4190A>T
n.40-4190A>T
c.691A>T
c.4731A>T (p.Leu1577=)
c.4034-4190A>T (n.4034-4190A>T)
c.3366A>T (p.Leu1122=)
c.5280A>T (p.Leu1760=)
c.3488-4190A>T (n.3488-4190A>T)
c.5007A>T (p.Leu1669=)
c.4461A>T (p.Leu1487=)
c.4580-4190A>T (n.4580-4190A>T)
c.4188A>T (p.Leu1396=)
c.3761-4190A>T (n.3761-4190A>T)
c.3639A>T (p.Leu1213=)
c.5553A>T (p.Leu1851=)
c.5277A>T (p.Leu1759=)
9g.115046531T>CCA466912451TNCc.318-4190A>G
c.3215-4190A>G (n.3215-4190A>G)
c.3915A>G (p.Leu1305=)
c.1947A>G (p.Leu649=)
c.603A>G (p.Leu201=)
c.3962A>G
c.5004A>G (p.Leu1668=)
c.4458A>G (p.Leu1486=)
c.4307-4190A>G (n.4307-4190A>G)
n.322A>G
n.253-4190A>G
n.40-4190A>G
c.691A>G
c.4731A>G (p.Leu1577=)
c.4034-4190A>G (n.4034-4190A>G)
c.3366A>G (p.Leu1122=)
c.5280A>G (p.Leu1760=)
c.3488-4190A>G (n.3488-4190A>G)
c.5007A>G (p.Leu1669=)
c.4461A>G (p.Leu1487=)
c.4580-4190A>G (n.4580-4190A>G)
c.4188A>G (p.Leu1396=)
c.3761-4190A>G (n.3761-4190A>G)
c.3639A>G (p.Leu1213=)
c.5553A>G (p.Leu1851=)
c.5277A>G (p.Leu1759=)
9g.115046531T>GCA466912452TNCc.318-4190A>C
c.3215-4190A>C (n.3215-4190A>C)
c.3915A>C (p.Leu1305=)
c.1947A>C (p.Leu649=)
c.603A>C (p.Leu201=)
c.3962A>C
c.5004A>C (p.Leu1668=)
c.4458A>C (p.Leu1486=)
c.4307-4190A>C (n.4307-4190A>C)
n.322A>C
n.253-4190A>C
n.40-4190A>C
c.691A>C
c.4731A>C (p.Leu1577=)
c.4034-4190A>C (n.4034-4190A>C)
c.3366A>C (p.Leu1122=)
c.5280A>C (p.Leu1760=)
c.3488-4190A>C (n.3488-4190A>C)
c.5007A>C (p.Leu1669=)
c.4461A>C (p.Leu1487=)
c.4580-4190A>C (n.4580-4190A>C)
c.4188A>C (p.Leu1396=)
c.3761-4190A>C (n.3761-4190A>C)
c.3639A>C (p.Leu1213=)
c.5553A>C (p.Leu1851=)
c.5277A>C (p.Leu1759=)
9g.115046532A>CCA374630962TNCc.318-4191T>G
c.3215-4191T>G (n.3215-4191T>G)
c.3914T>G (p.Leu1305Arg)
c.1946T>G (p.Leu649Arg)
c.602T>G (p.Leu201Arg)
c.3961T>G
c.5003T>G (p.Leu1668Arg)
c.4457T>G (p.Leu1486Arg)
c.4307-4191T>G (n.4307-4191T>G)
n.321T>G
n.253-4191T>G
n.40-4191T>G
c.690T>G
c.4730T>G (p.Leu1577Arg)
c.4034-4191T>G (n.4034-4191T>G)
c.3365T>G (p.Leu1122Arg)
c.5279T>G (p.Leu1760Arg)
c.3488-4191T>G (n.3488-4191T>G)
c.5006T>G (p.Leu1669Arg)
c.4460T>G (p.Leu1487Arg)
c.4580-4191T>G (n.4580-4191T>G)
c.4187T>G (p.Leu1396Arg)
c.3761-4191T>G (n.3761-4191T>G)
c.3638T>G (p.Leu1213Arg)
c.5552T>G (p.Leu1851Arg)
c.5276T>G (p.Leu1759Arg)
9g.115046532A>GCA374630965TNCc.318-4191T>C
c.3215-4191T>C (n.3215-4191T>C)
c.3914T>C (p.Leu1305Pro)
c.1946T>C (p.Leu649Pro)
c.602T>C (p.Leu201Pro)
c.3961T>C
c.5003T>C (p.Leu1668Pro)
c.4457T>C (p.Leu1486Pro)
c.4307-4191T>C (n.4307-4191T>C)
n.321T>C
n.253-4191T>C
n.40-4191T>C
c.690T>C
c.4730T>C (p.Leu1577Pro)
c.4034-4191T>C (n.4034-4191T>C)
c.3365T>C (p.Leu1122Pro)
c.5279T>C (p.Leu1760Pro)
c.3488-4191T>C (n.3488-4191T>C)
c.5006T>C (p.Leu1669Pro)
c.4460T>C (p.Leu1487Pro)
c.4580-4191T>C (n.4580-4191T>C)
c.4187T>C (p.Leu1396Pro)
c.3761-4191T>C (n.3761-4191T>C)
c.3638T>C (p.Leu1213Pro)
c.5552T>C (p.Leu1851Pro)
c.5276T>C (p.Leu1759Pro)
9g.115046532A>TCA374630964TNCc.318-4191T>A
c.3215-4191T>A (n.3215-4191T>A)
c.3914T>A (p.Leu1305Gln)
c.1946T>A (p.Leu649Gln)
c.602T>A (p.Leu201Gln)
c.3961T>A
c.5003T>A (p.Leu1668Gln)
c.4457T>A (p.Leu1486Gln)
c.4307-4191T>A (n.4307-4191T>A)
n.321T>A
n.253-4191T>A
n.40-4191T>A
c.690T>A
c.4730T>A (p.Leu1577Gln)
c.4034-4191T>A (n.4034-4191T>A)
c.3365T>A (p.Leu1122Gln)
c.5279T>A (p.Leu1760Gln)
c.3488-4191T>A (n.3488-4191T>A)
c.5006T>A (p.Leu1669Gln)
c.4460T>A (p.Leu1487Gln)
c.4580-4191T>A (n.4580-4191T>A)
c.4187T>A (p.Leu1396Gln)
c.3761-4191T>A (n.3761-4191T>A)
c.3638T>A (p.Leu1213Gln)
c.5552T>A (p.Leu1851Gln)
c.5276T>A (p.Leu1759Gln)
9g.115046533G>ACA466912453TNCc.318-4192C>T
c.3215-4192C>T (n.3215-4192C>T)
c.3913C>T (p.Leu1305=)
c.1945C>T (p.Leu649=)
c.601C>T (p.Leu201=)
c.3960C>T
c.5002C>T (p.Leu1668=)
c.4456C>T (p.Leu1486=)
c.4307-4192C>T (n.4307-4192C>T)
n.320C>T
n.253-4192C>T
n.40-4192C>T
c.689C>T
c.4729C>T (p.Leu1577=)
c.4034-4192C>T (n.4034-4192C>T)
c.3364C>T (p.Leu1122=)
c.5278C>T (p.Leu1760=)
c.3488-4192C>T (n.3488-4192C>T)
c.5005C>T (p.Leu1669=)
c.4459C>T (p.Leu1487=)
c.4580-4192C>T (n.4580-4192C>T)
c.4186C>T (p.Leu1396=)
c.3761-4192C>T (n.3761-4192C>T)
c.3637C>T (p.Leu1213=)
c.5551C>T (p.Leu1851=)
c.5275C>T (p.Leu1759=)
9g.115046533G>CCA374630967TNCc.318-4192C>G
c.3215-4192C>G (n.3215-4192C>G)
c.3913C>G (p.Leu1305Val)
c.1945C>G (p.Leu649Val)
c.601C>G (p.Leu201Val)
c.3960C>G
c.5002C>G (p.Leu1668Val)
c.4456C>G (p.Leu1486Val)
c.4307-4192C>G (n.4307-4192C>G)
n.320C>G
n.253-4192C>G
n.40-4192C>G
c.689C>G
c.4729C>G (p.Leu1577Val)
c.4034-4192C>G (n.4034-4192C>G)
c.3364C>G (p.Leu1122Val)
c.5278C>G (p.Leu1760Val)
c.3488-4192C>G (n.3488-4192C>G)
c.5005C>G (p.Leu1669Val)
c.4459C>G (p.Leu1487Val)
c.4580-4192C>G (n.4580-4192C>G)
c.4186C>G (p.Leu1396Val)
c.3761-4192C>G (n.3761-4192C>G)
c.3637C>G (p.Leu1213Val)
c.5551C>G (p.Leu1851Val)
c.5275C>G (p.Leu1759Val)
 gnomAD v4
9g.115046533G>TCA374630969TNCc.318-4192C>A
c.3215-4192C>A (n.3215-4192C>A)
c.3913C>A (p.Leu1305Ile)
c.1945C>A (p.Leu649Ile)
c.601C>A (p.Leu201Ile)
c.3960C>A
c.5002C>A (p.Leu1668Ile)
c.4456C>A (p.Leu1486Ile)
c.4307-4192C>A (n.4307-4192C>A)
n.320C>A
n.253-4192C>A
n.40-4192C>A
c.689C>A
c.4729C>A (p.Leu1577Ile)
c.4034-4192C>A (n.4034-4192C>A)
c.3364C>A (p.Leu1122Ile)
c.5278C>A (p.Leu1760Ile)
c.3488-4192C>A (n.3488-4192C>A)
c.5005C>A (p.Leu1669Ile)
c.4459C>A (p.Leu1487Ile)
c.4580-4192C>A (n.4580-4192C>A)
c.4186C>A (p.Leu1396Ile)
c.3761-4192C>A (n.3761-4192C>A)
c.3637C>A (p.Leu1213Ile)
c.5551C>A (p.Leu1851Ile)
c.5275C>A (p.Leu1759Ile)
 COSMIC
9g.115046534G>ACA466912455TNCc.318-4193C>T
c.3215-4193C>T (n.3215-4193C>T)
c.3912C>T (p.Thr1304=)
c.1944C>T (p.Thr648=)
c.600C>T (p.Thr200=)
c.3959C>T
c.5001C>T (p.Thr1667=)
c.4455C>T (p.Thr1485=)
c.4307-4193C>T (n.4307-4193C>T)
n.319C>T
n.253-4193C>T
n.40-4193C>T
c.688C>T
c.4728C>T (p.Thr1576=)
c.4034-4193C>T (n.4034-4193C>T)
c.3363C>T (p.Thr1121=)
c.5277C>T (p.Thr1759=)
c.3488-4193C>T (n.3488-4193C>T)
c.5004C>T (p.Thr1668=)
c.4458C>T (p.Thr1486=)
c.4580-4193C>T (n.4580-4193C>T)
c.4185C>T (p.Thr1395=)
c.3761-4193C>T (n.3761-4193C>T)
c.3636C>T (p.Thr1212=)
c.5550C>T (p.Thr1850=)
c.5274C>T (p.Thr1758=)
9g.115046534G>CCA466912456TNCc.318-4193C>G
c.3215-4193C>G (n.3215-4193C>G)
c.3912C>G (p.Thr1304=)
c.1944C>G (p.Thr648=)
c.600C>G (p.Thr200=)
c.3959C>G
c.5001C>G (p.Thr1667=)
c.4455C>G (p.Thr1485=)
c.4307-4193C>G (n.4307-4193C>G)
n.319C>G
n.253-4193C>G
n.40-4193C>G
c.688C>G
c.4728C>G (p.Thr1576=)
c.4034-4193C>G (n.4034-4193C>G)
c.3363C>G (p.Thr1121=)
c.5277C>G (p.Thr1759=)
c.3488-4193C>G (n.3488-4193C>G)
c.5004C>G (p.Thr1668=)
c.4458C>G (p.Thr1486=)
c.4580-4193C>G (n.4580-4193C>G)
c.4185C>G (p.Thr1395=)
c.3761-4193C>G (n.3761-4193C>G)
c.3636C>G (p.Thr1212=)
c.5550C>G (p.Thr1850=)
c.5274C>G (p.Thr1758=)
9g.115046534G>TCA466912457TNCc.318-4193C>A
c.3215-4193C>A (n.3215-4193C>A)
c.3912C>A (p.Thr1304=)
c.1944C>A (p.Thr648=)
c.600C>A (p.Thr200=)
c.3959C>A
c.5001C>A (p.Thr1667=)
c.4455C>A (p.Thr1485=)
c.4307-4193C>A (n.4307-4193C>A)
n.319C>A
n.253-4193C>A
n.40-4193C>A
c.688C>A
c.4728C>A (p.Thr1576=)
c.4034-4193C>A (n.4034-4193C>A)
c.3363C>A (p.Thr1121=)
c.5277C>A (p.Thr1759=)
c.3488-4193C>A (n.3488-4193C>A)
c.5004C>A (p.Thr1668=)
c.4458C>A (p.Thr1486=)
c.4580-4193C>A (n.4580-4193C>A)
c.4185C>A (p.Thr1395=)
c.3761-4193C>A (n.3761-4193C>A)
c.3636C>A (p.Thr1212=)
c.5550C>A (p.Thr1850=)
c.5274C>A (p.Thr1758=)
9g.115046535G>ACA374630970TNCc.318-4194C>T
c.3215-4194C>T (n.3215-4194C>T)
c.3911C>T (p.Thr1304Ile)
c.1943C>T (p.Thr648Ile)
c.599C>T (p.Thr200Ile)
c.3958C>T
c.5000C>T (p.Thr1667Ile)
c.4454C>T (p.Thr1485Ile)
c.4307-4194C>T (n.4307-4194C>T)
n.318C>T
n.253-4194C>T
n.40-4194C>T
c.687C>T
c.4727C>T (p.Thr1576Ile)
c.4034-4194C>T (n.4034-4194C>T)
c.3362C>T (p.Thr1121Ile)
c.5276C>T (p.Thr1759Ile)
c.3488-4194C>T (n.3488-4194C>T)
c.5003C>T (p.Thr1668Ile)
c.4457C>T (p.Thr1486Ile)
c.4580-4194C>T (n.4580-4194C>T)
c.4184C>T (p.Thr1395Ile)
c.3761-4194C>T (n.3761-4194C>T)
c.3635C>T (p.Thr1212Ile)
c.5549C>T (p.Thr1850Ile)
c.5273C>T (p.Thr1758Ile)
 dbSNP
9g.115046535G>CCA374630972TNCc.318-4194C>G
c.3215-4194C>G (n.3215-4194C>G)
c.3911C>G (p.Thr1304Ser)
c.1943C>G (p.Thr648Ser)
c.599C>G (p.Thr200Ser)
c.3958C>G
c.5000C>G (p.Thr1667Ser)
c.4454C>G (p.Thr1485Ser)
c.4307-4194C>G (n.4307-4194C>G)
n.318C>G
n.253-4194C>G
n.40-4194C>G
c.687C>G
c.4727C>G (p.Thr1576Ser)
c.4034-4194C>G (n.4034-4194C>G)
c.3362C>G (p.Thr1121Ser)
c.5276C>G (p.Thr1759Ser)
c.3488-4194C>G (n.3488-4194C>G)
c.5003C>G (p.Thr1668Ser)
c.4457C>G (p.Thr1486Ser)
c.4580-4194C>G (n.4580-4194C>G)
c.4184C>G (p.Thr1395Ser)
c.3761-4194C>G (n.3761-4194C>G)
c.3635C>G (p.Thr1212Ser)
c.5549C>G (p.Thr1850Ser)
c.5273C>G (p.Thr1758Ser)
9g.115046535G=CA1874118904TNCc.318-4194C=
c.3215-4194C= (n.3215-4194C=)
c.3911C= (p.Thr1304=)
c.1943C= (p.Thr648=)
c.599C= (p.Thr200=)
c.3958C=
c.5000C= (p.Thr1667=)
c.4454C= (p.Thr1485=)
c.4307-4194C= (n.4307-4194C=)
n.318C=
n.253-4194C=
n.40-4194C=
c.687C=
c.4727C= (p.Thr1576=)
c.4034-4194C= (n.4034-4194C=)
c.3362C= (p.Thr1121=)
c.5276C= (p.Thr1759=)
c.3488-4194C= (n.3488-4194C=)
c.5003C= (p.Thr1668=)
c.4457C= (p.Thr1486=)
c.4580-4194C= (n.4580-4194C=)
c.4184C= (p.Thr1395=)
c.3761-4194C= (n.3761-4194C=)
c.3635C= (p.Thr1212=)
c.5549C= (p.Thr1850=)
c.5273C= (p.Thr1758=)
9g.115046535G>TCA198692619TNCc.318-4194C>A
c.3215-4194C>A (n.3215-4194C>A)
c.3911C>A (p.Thr1304Asn)
c.1943C>A (p.Thr648Asn)
c.599C>A (p.Thr200Asn)
c.3958C>A
c.5000C>A (p.Thr1667Asn)
c.4454C>A (p.Thr1485Asn)
c.4307-4194C>A (n.4307-4194C>A)
n.318C>A
n.253-4194C>A
n.40-4194C>A
c.687C>A
c.4727C>A (p.Thr1576Asn)
c.4034-4194C>A (n.4034-4194C>A)
c.3362C>A (p.Thr1121Asn)
c.5276C>A (p.Thr1759Asn)
c.3488-4194C>A (n.3488-4194C>A)
c.5003C>A (p.Thr1668Asn)
c.4457C>A (p.Thr1486Asn)
c.4580-4194C>A (n.4580-4194C>A)
c.4184C>A (p.Thr1395Asn)
c.3761-4194C>A (n.3761-4194C>A)
c.3635C>A (p.Thr1212Asn)
c.5549C>A (p.Thr1850Asn)
c.5273C>A (p.Thr1758Asn)
 dbSNP gnomAD v4
9g.115046536T>ACA374630974TNCc.318-4195A>T
c.3215-4195A>T (n.3215-4195A>T)
c.3910A>T (p.Thr1304Ser)
c.1942A>T (p.Thr648Ser)
c.598A>T (p.Thr200Ser)
c.3957A>T
c.4999A>T (p.Thr1667Ser)
c.4453A>T (p.Thr1485Ser)
c.4307-4195A>T (n.4307-4195A>T)
n.317A>T
n.253-4195A>T
n.40-4195A>T
c.686A>T
c.4726A>T (p.Thr1576Ser)
c.4034-4195A>T (n.4034-4195A>T)
c.3361A>T (p.Thr1121Ser)
c.5275A>T (p.Thr1759Ser)
c.3488-4195A>T (n.3488-4195A>T)
c.5002A>T (p.Thr1668Ser)
c.4456A>T (p.Thr1486Ser)
c.4580-4195A>T (n.4580-4195A>T)
c.4183A>T (p.Thr1395Ser)
c.3761-4195A>T (n.3761-4195A>T)
c.3634A>T (p.Thr1212Ser)
c.5548A>T (p.Thr1850Ser)
c.5272A>T (p.Thr1758Ser)
9g.115046536T>CCA374630976TNCc.318-4195A>G
c.3215-4195A>G (n.3215-4195A>G)
c.3910A>G (p.Thr1304Ala)
c.1942A>G (p.Thr648Ala)
c.598A>G (p.Thr200Ala)
c.3957A>G
c.4999A>G (p.Thr1667Ala)
c.4453A>G (p.Thr1485Ala)
c.4307-4195A>G (n.4307-4195A>G)
n.317A>G
n.253-4195A>G
n.40-4195A>G
c.686A>G
c.4726A>G (p.Thr1576Ala)
c.4034-4195A>G (n.4034-4195A>G)
c.3361A>G (p.Thr1121Ala)
c.5275A>G (p.Thr1759Ala)
c.3488-4195A>G (n.3488-4195A>G)
c.5002A>G (p.Thr1668Ala)
c.4456A>G (p.Thr1486Ala)
c.4580-4195A>G (n.4580-4195A>G)
c.4183A>G (p.Thr1395Ala)
c.3761-4195A>G (n.3761-4195A>G)
c.3634A>G (p.Thr1212Ala)
c.5548A>G (p.Thr1850Ala)
c.5272A>G (p.Thr1758Ala)
 gnomAD v4
9g.115046536T>GCA374630978TNCc.318-4195A>C
c.3215-4195A>C (n.3215-4195A>C)
c.3910A>C (p.Thr1304Pro)
c.1942A>C (p.Thr648Pro)
c.598A>C (p.Thr200Pro)
c.3957A>C
c.4999A>C (p.Thr1667Pro)
c.4453A>C (p.Thr1485Pro)
c.4307-4195A>C (n.4307-4195A>C)
n.317A>C
n.253-4195A>C
n.40-4195A>C
c.686A>C
c.4726A>C (p.Thr1576Pro)
c.4034-4195A>C (n.4034-4195A>C)
c.3361A>C (p.Thr1121Pro)
c.5275A>C (p.Thr1759Pro)
c.3488-4195A>C (n.3488-4195A>C)
c.5002A>C (p.Thr1668Pro)
c.4456A>C (p.Thr1486Pro)
c.4580-4195A>C (n.4580-4195A>C)
c.4183A>C (p.Thr1395Pro)
c.3761-4195A>C (n.3761-4195A>C)
c.3634A>C (p.Thr1212Pro)
c.5548A>C (p.Thr1850Pro)
c.5272A>C (p.Thr1758Pro)
9g.115046537T>ACA466912459TNCc.318-4196A>T
c.3215-4196A>T (n.3215-4196A>T)
c.3909A>T (p.Ile1303=)
c.1941A>T (p.Ile647=)
c.597A>T (p.Ile199=)
c.3956A>T
c.4998A>T (p.Ile1666=)
c.4452A>T (p.Ile1484=)
c.4307-4196A>T (n.4307-4196A>T)
n.316A>T
n.253-4196A>T
n.40-4196A>T
c.685A>T
c.4725A>T (p.Ile1575=)
c.4034-4196A>T (n.4034-4196A>T)
c.3360A>T (p.Ile1120=)
c.5274A>T (p.Ile1758=)
c.3488-4196A>T (n.3488-4196A>T)
c.5001A>T (p.Ile1667=)
c.4455A>T (p.Ile1485=)
c.4580-4196A>T (n.4580-4196A>T)
c.4182A>T (p.Ile1394=)
c.3761-4196A>T (n.3761-4196A>T)
c.3633A>T (p.Ile1211=)
c.5547A>T (p.Ile1849=)
c.5271A>T (p.Ile1757=)
9g.115046537T>CCA374630979TNCc.318-4196A>G
c.3215-4196A>G (n.3215-4196A>G)
c.3909A>G (p.Ile1303Met)
c.1941A>G (p.Ile647Met)
c.597A>G (p.Ile199Met)
c.3956A>G
c.4998A>G (p.Ile1666Met)
c.4452A>G (p.Ile1484Met)
c.4307-4196A>G (n.4307-4196A>G)
n.316A>G
n.253-4196A>G
n.40-4196A>G
c.685A>G
c.4725A>G (p.Ile1575Met)
c.4034-4196A>G (n.4034-4196A>G)
c.3360A>G (p.Ile1120Met)
c.5274A>G (p.Ile1758Met)
c.3488-4196A>G (n.3488-4196A>G)
c.5001A>G (p.Ile1667Met)
c.4455A>G (p.Ile1485Met)
c.4580-4196A>G (n.4580-4196A>G)
c.4182A>G (p.Ile1394Met)
c.3761-4196A>G (n.3761-4196A>G)
c.3633A>G (p.Ile1211Met)
c.5547A>G (p.Ile1849Met)
c.5271A>G (p.Ile1757Met)
9g.115046537T>GCA466912461TNCc.318-4196A>C
c.3215-4196A>C (n.3215-4196A>C)
c.3909A>C (p.Ile1303=)
c.1941A>C (p.Ile647=)
c.597A>C (p.Ile199=)
c.3956A>C
c.4998A>C (p.Ile1666=)
c.4452A>C (p.Ile1484=)
c.4307-4196A>C (n.4307-4196A>C)
n.316A>C
n.253-4196A>C
n.40-4196A>C
c.685A>C
c.4725A>C (p.Ile1575=)
c.4034-4196A>C (n.4034-4196A>C)
c.3360A>C (p.Ile1120=)
c.5274A>C (p.Ile1758=)
c.3488-4196A>C (n.3488-4196A>C)
c.5001A>C (p.Ile1667=)
c.4455A>C (p.Ile1485=)
c.4580-4196A>C (n.4580-4196A>C)
c.4182A>C (p.Ile1394=)
c.3761-4196A>C (n.3761-4196A>C)
c.3633A>C (p.Ile1211=)
c.5547A>C (p.Ile1849=)
c.5271A>C (p.Ile1757=)
9g.115046538A>CCA374630981TNCc.318-4197T>G
c.3215-4197T>G (n.3215-4197T>G)
c.3908T>G (p.Ile1303Arg)
c.1940T>G (p.Ile647Arg)
c.596T>G (p.Ile199Arg)
c.3955T>G
c.4997T>G (p.Ile1666Arg)
c.4451T>G (p.Ile1484Arg)
c.4307-4197T>G (n.4307-4197T>G)
n.315T>G
n.253-4197T>G
n.40-4197T>G
c.684T>G
c.4724T>G (p.Ile1575Arg)
c.4034-4197T>G (n.4034-4197T>G)
c.3359T>G (p.Ile1120Arg)
c.5273T>G (p.Ile1758Arg)
c.3488-4197T>G (n.3488-4197T>G)
c.5000T>G (p.Ile1667Arg)
c.4454T>G (p.Ile1485Arg)
c.4580-4197T>G (n.4580-4197T>G)
c.4181T>G (p.Ile1394Arg)
c.3761-4197T>G (n.3761-4197T>G)
c.3632T>G (p.Ile1211Arg)
c.5546T>G (p.Ile1849Arg)
c.5270T>G (p.Ile1757Arg)
 gnomAD v4 COSMIC
9g.115046538A>GCA374630983TNCc.318-4197T>C
c.3215-4197T>C (n.3215-4197T>C)
c.3908T>C (p.Ile1303Thr)
c.1940T>C (p.Ile647Thr)
c.596T>C (p.Ile199Thr)
c.3955T>C
c.4997T>C (p.Ile1666Thr)
c.4451T>C (p.Ile1484Thr)
c.4307-4197T>C (n.4307-4197T>C)
n.315T>C
n.253-4197T>C
n.40-4197T>C
c.684T>C
c.4724T>C (p.Ile1575Thr)
c.4034-4197T>C (n.4034-4197T>C)
c.3359T>C (p.Ile1120Thr)
c.5273T>C (p.Ile1758Thr)
c.3488-4197T>C (n.3488-4197T>C)
c.5000T>C (p.Ile1667Thr)
c.4454T>C (p.Ile1485Thr)
c.4580-4197T>C (n.4580-4197T>C)
c.4181T>C (p.Ile1394Thr)
c.3761-4197T>C (n.3761-4197T>C)
c.3632T>C (p.Ile1211Thr)
c.5546T>C (p.Ile1849Thr)
c.5270T>C (p.Ile1757Thr)
9g.115046538A>TCA374630984TNCc.318-4197T>A
c.3215-4197T>A (n.3215-4197T>A)
c.3908T>A (p.Ile1303Lys)
c.1940T>A (p.Ile647Lys)
c.596T>A (p.Ile199Lys)
c.3955T>A
c.4997T>A (p.Ile1666Lys)
c.4451T>A (p.Ile1484Lys)
c.4307-4197T>A (n.4307-4197T>A)
n.315T>A
n.253-4197T>A
n.40-4197T>A
c.684T>A
c.4724T>A (p.Ile1575Lys)
c.4034-4197T>A (n.4034-4197T>A)
c.3359T>A (p.Ile1120Lys)
c.5273T>A (p.Ile1758Lys)
c.3488-4197T>A (n.3488-4197T>A)
c.5000T>A (p.Ile1667Lys)
c.4454T>A (p.Ile1485Lys)
c.4580-4197T>A (n.4580-4197T>A)
c.4181T>A (p.Ile1394Lys)
c.3761-4197T>A (n.3761-4197T>A)
c.3632T>A (p.Ile1211Lys)
c.5546T>A (p.Ile1849Lys)
c.5270T>A (p.Ile1757Lys)
9g.115046539T>ACA374630990TNCc.318-4198A>T
c.3215-4198A>T (n.3215-4198A>T)
c.3907A>T (p.Ile1303Leu)
c.1939A>T (p.Ile647Leu)
c.595A>T (p.Ile199Leu)
c.3954A>T
c.4996A>T (p.Ile1666Leu)
c.4450A>T (p.Ile1484Leu)
c.4307-4198A>T (n.4307-4198A>T)
n.314A>T
n.253-4198A>T
n.40-4198A>T
c.683A>T
c.4723A>T (p.Ile1575Leu)
c.4034-4198A>T (n.4034-4198A>T)
c.3358A>T (p.Ile1120Leu)
c.5272A>T (p.Ile1758Leu)
c.3488-4198A>T (n.3488-4198A>T)
c.4999A>T (p.Ile1667Leu)
c.4453A>T (p.Ile1485Leu)
c.4580-4198A>T (n.4580-4198A>T)
c.4180A>T (p.Ile1394Leu)
c.3761-4198A>T (n.3761-4198A>T)
c.3631A>T (p.Ile1211Leu)
c.5545A>T (p.Ile1849Leu)
c.5269A>T (p.Ile1757Leu)
9g.115046539T>CCA374630989TNCc.318-4198A>G
c.3215-4198A>G (n.3215-4198A>G)
c.3907A>G (p.Ile1303Val)
c.1939A>G (p.Ile647Val)
c.595A>G (p.Ile199Val)
c.3954A>G
c.4996A>G (p.Ile1666Val)
c.4450A>G (p.Ile1484Val)
c.4307-4198A>G (n.4307-4198A>G)
n.314A>G
n.253-4198A>G
n.40-4198A>G
c.683A>G
c.4723A>G (p.Ile1575Val)
c.4034-4198A>G (n.4034-4198A>G)
c.3358A>G (p.Ile1120Val)
c.5272A>G (p.Ile1758Val)
c.3488-4198A>G (n.3488-4198A>G)
c.4999A>G (p.Ile1667Val)
c.4453A>G (p.Ile1485Val)
c.4580-4198A>G (n.4580-4198A>G)
c.4180A>G (p.Ile1394Val)
c.3761-4198A>G (n.3761-4198A>G)
c.3631A>G (p.Ile1211Val)
c.5545A>G (p.Ile1849Val)
c.5269A>G (p.Ile1757Val)
9g.115046539T>GCA374630987TNCc.318-4198A>C
c.3215-4198A>C (n.3215-4198A>C)
c.3907A>C (p.Ile1303Leu)
c.1939A>C (p.Ile647Leu)
c.595A>C (p.Ile199Leu)
c.3954A>C
c.4996A>C (p.Ile1666Leu)
c.4450A>C (p.Ile1484Leu)
c.4307-4198A>C (n.4307-4198A>C)
n.314A>C
n.253-4198A>C
n.40-4198A>C
c.683A>C
c.4723A>C (p.Ile1575Leu)
c.4034-4198A>C (n.4034-4198A>C)
c.3358A>C (p.Ile1120Leu)
c.5272A>C (p.Ile1758Leu)
c.3488-4198A>C (n.3488-4198A>C)
c.4999A>C (p.Ile1667Leu)
c.4453A>C (p.Ile1485Leu)
c.4580-4198A>C (n.4580-4198A>C)
c.4180A>C (p.Ile1394Leu)
c.3761-4198A>C (n.3761-4198A>C)
c.3631A>C (p.Ile1211Leu)
c.5545A>C (p.Ile1849Leu)
c.5269A>C (p.Ile1757Leu)
9g.115046540T>ACA374630992TNCc.318-4199A>T
c.3215-4199A>T (n.3215-4199A>T)
c.3906A>T (p.Glu1302Asp)
c.1938A>T (p.Glu646Asp)
c.594A>T (p.Glu198Asp)
c.3953A>T
c.4995A>T (p.Glu1665Asp)
c.4449A>T (p.Glu1483Asp)
c.4307-4199A>T (n.4307-4199A>T)
n.313A>T
n.253-4199A>T
n.40-4199A>T
c.682A>T
c.4722A>T (p.Glu1574Asp)
c.4034-4199A>T (n.4034-4199A>T)
c.3357A>T (p.Glu1119Asp)
c.5271A>T (p.Glu1757Asp)
c.3488-4199A>T (n.3488-4199A>T)
c.4998A>T (p.Glu1666Asp)
c.4452A>T (p.Glu1484Asp)
c.4580-4199A>T (n.4580-4199A>T)
c.4179A>T (p.Glu1393Asp)
c.3761-4199A>T (n.3761-4199A>T)
c.3630A>T (p.Glu1210Asp)
c.5544A>T (p.Glu1848Asp)
c.5268A>T (p.Glu1756Asp)
9g.115046540T>CCA466912463TNCc.318-4199A>G
c.3215-4199A>G (n.3215-4199A>G)
c.3906A>G (p.Glu1302=)
c.1938A>G (p.Glu646=)
c.594A>G (p.Glu198=)
c.3953A>G
c.4995A>G (p.Glu1665=)
c.4449A>G (p.Glu1483=)
c.4307-4199A>G (n.4307-4199A>G)
n.313A>G
n.253-4199A>G
n.40-4199A>G
c.682A>G
c.4722A>G (p.Glu1574=)
c.4034-4199A>G (n.4034-4199A>G)
c.3357A>G (p.Glu1119=)
c.5271A>G (p.Glu1757=)
c.3488-4199A>G (n.3488-4199A>G)
c.4998A>G (p.Glu1666=)
c.4452A>G (p.Glu1484=)
c.4580-4199A>G (n.4580-4199A>G)
c.4179A>G (p.Glu1393=)
c.3761-4199A>G (n.3761-4199A>G)
c.3630A>G (p.Glu1210=)
c.5544A>G (p.Glu1848=)
c.5268A>G (p.Glu1756=)
9g.115046540T>GCA374630993TNCc.318-4199A>C
c.3215-4199A>C (n.3215-4199A>C)
c.3906A>C (p.Glu1302Asp)
c.1938A>C (p.Glu646Asp)
c.594A>C (p.Glu198Asp)
c.3953A>C
c.4995A>C (p.Glu1665Asp)
c.4449A>C (p.Glu1483Asp)
c.4307-4199A>C (n.4307-4199A>C)
n.313A>C
n.253-4199A>C
n.40-4199A>C
c.682A>C
c.4722A>C (p.Glu1574Asp)
c.4034-4199A>C (n.4034-4199A>C)
c.3357A>C (p.Glu1119Asp)
c.5271A>C (p.Glu1757Asp)
c.3488-4199A>C (n.3488-4199A>C)
c.4998A>C (p.Glu1666Asp)
c.4452A>C (p.Glu1484Asp)
c.4580-4199A>C (n.4580-4199A>C)
c.4179A>C (p.Glu1393Asp)
c.3761-4199A>C (n.3761-4199A>C)
c.3630A>C (p.Glu1210Asp)
c.5544A>C (p.Glu1848Asp)
c.5268A>C (p.Glu1756Asp)
9g.115046541T>ACA374630995TNCc.318-4200A>T
c.3215-4200A>T (n.3215-4200A>T)
c.3905A>T (p.Glu1302Val)
c.1937A>T (p.Glu646Val)
c.593A>T (p.Glu198Val)
c.3952A>T
c.4994A>T (p.Glu1665Val)
c.4448A>T (p.Glu1483Val)
c.4307-4200A>T (n.4307-4200A>T)
n.312A>T
n.253-4200A>T
n.40-4200A>T
c.681A>T
c.4721A>T (p.Glu1574Val)
c.4034-4200A>T (n.4034-4200A>T)
c.3356A>T (p.Glu1119Val)
c.5270A>T (p.Glu1757Val)
c.3488-4200A>T (n.3488-4200A>T)
c.4997A>T (p.Glu1666Val)
c.4451A>T (p.Glu1484Val)
c.4580-4200A>T (n.4580-4200A>T)
c.4178A>T (p.Glu1393Val)
c.3761-4200A>T (n.3761-4200A>T)
c.3629A>T (p.Glu1210Val)
c.5543A>T (p.Glu1848Val)
c.5267A>T (p.Glu1756Val)
9g.115046541T>CCA374630997TNCc.318-4200A>G
c.3215-4200A>G (n.3215-4200A>G)
c.3905A>G (p.Glu1302Gly)
c.1937A>G (p.Glu646Gly)
c.593A>G (p.Glu198Gly)
c.3952A>G
c.4994A>G (p.Glu1665Gly)
c.4448A>G (p.Glu1483Gly)
c.4307-4200A>G (n.4307-4200A>G)
n.312A>G
n.253-4200A>G
n.40-4200A>G
c.681A>G
c.4721A>G (p.Glu1574Gly)
c.4034-4200A>G (n.4034-4200A>G)
c.3356A>G (p.Glu1119Gly)
c.5270A>G (p.Glu1757Gly)
c.3488-4200A>G (n.3488-4200A>G)
c.4997A>G (p.Glu1666Gly)
c.4451A>G (p.Glu1484Gly)
c.4580-4200A>G (n.4580-4200A>G)
c.4178A>G (p.Glu1393Gly)
c.3761-4200A>G (n.3761-4200A>G)
c.3629A>G (p.Glu1210Gly)
c.5543A>G (p.Glu1848Gly)
c.5267A>G (p.Glu1756Gly)
9g.115046541T>GCA374630998TNCc.318-4200A>C
c.3215-4200A>C (n.3215-4200A>C)
c.3905A>C (p.Glu1302Ala)
c.1937A>C (p.Glu646Ala)
c.593A>C (p.Glu198Ala)
c.3952A>C
c.4994A>C (p.Glu1665Ala)
c.4448A>C (p.Glu1483Ala)
c.4307-4200A>C (n.4307-4200A>C)
n.312A>C
n.253-4200A>C
n.40-4200A>C
c.681A>C
c.4721A>C (p.Glu1574Ala)
c.4034-4200A>C (n.4034-4200A>C)
c.3356A>C (p.Glu1119Ala)
c.5270A>C (p.Glu1757Ala)
c.3488-4200A>C (n.3488-4200A>C)
c.4997A>C (p.Glu1666Ala)
c.4451A>C (p.Glu1484Ala)
c.4580-4200A>C (n.4580-4200A>C)
c.4178A>C (p.Glu1393Ala)
c.3761-4200A>C (n.3761-4200A>C)
c.3629A>C (p.Glu1210Ala)
c.5543A>C (p.Glu1848Ala)
c.5267A>C (p.Glu1756Ala)
 gnomAD v4
9g.115046542C>ACA374631000TNCc.318-4201G>T
c.3215-4201G>T (n.3215-4201G>T)
c.3904G>T (p.Glu1302Ter)
c.1936G>T (p.Glu646Ter)
c.592G>T (p.Glu198Ter)
c.3951G>T
c.4993G>T (p.Glu1665Ter)
c.4447G>T (p.Glu1483Ter)
c.4307-4201G>T (n.4307-4201G>T)
n.311G>T
n.253-4201G>T
n.40-4201G>T
c.680G>T
c.4720G>T (p.Glu1574Ter)
c.4034-4201G>T (n.4034-4201G>T)
c.3355G>T (p.Glu1119Ter)
c.5269G>T (p.Glu1757Ter)
c.3488-4201G>T (n.3488-4201G>T)
c.4996G>T (p.Glu1666Ter)
c.4450G>T (p.Glu1484Ter)
c.4580-4201G>T (n.4580-4201G>T)
c.4177G>T (p.Glu1393Ter)
c.3761-4201G>T (n.3761-4201G>T)
c.3628G>T (p.Glu1210Ter)
c.5542G>T (p.Glu1848Ter)
c.5266G>T (p.Glu1756Ter)
9g.115046542C>GCA374631001TNCc.318-4201G>C
c.3215-4201G>C (n.3215-4201G>C)
c.3904G>C (p.Glu1302Gln)
c.1936G>C (p.Glu646Gln)
c.592G>C (p.Glu198Gln)
c.3951G>C
c.4993G>C (p.Glu1665Gln)
c.4447G>C (p.Glu1483Gln)
c.4307-4201G>C (n.4307-4201G>C)
n.311G>C
n.253-4201G>C
n.40-4201G>C
c.680G>C
c.4720G>C (p.Glu1574Gln)
c.4034-4201G>C (n.4034-4201G>C)
c.3355G>C (p.Glu1119Gln)
c.5269G>C (p.Glu1757Gln)
c.3488-4201G>C (n.3488-4201G>C)
c.4996G>C (p.Glu1666Gln)
c.4450G>C (p.Glu1484Gln)
c.4580-4201G>C (n.4580-4201G>C)
c.4177G>C (p.Glu1393Gln)
c.3761-4201G>C (n.3761-4201G>C)
c.3628G>C (p.Glu1210Gln)
c.5542G>C (p.Glu1848Gln)
c.5266G>C (p.Glu1756Gln)
9g.115046542C>TCA374631003TNCc.318-4201G>A
c.3215-4201G>A (n.3215-4201G>A)
c.3904G>A (p.Glu1302Lys)
c.1936G>A (p.Glu646Lys)
c.592G>A (p.Glu198Lys)
c.3951G>A
c.4993G>A (p.Glu1665Lys)
c.4447G>A (p.Glu1483Lys)
c.4307-4201G>A (n.4307-4201G>A)
n.311G>A
n.253-4201G>A
n.40-4201G>A
c.680G>A
c.4720G>A (p.Glu1574Lys)
c.4034-4201G>A (n.4034-4201G>A)
c.3355G>A (p.Glu1119Lys)
c.5269G>A (p.Glu1757Lys)
c.3488-4201G>A (n.3488-4201G>A)
c.4996G>A (p.Glu1666Lys)
c.4450G>A (p.Glu1484Lys)
c.4580-4201G>A (n.4580-4201G>A)
c.4177G>A (p.Glu1393Lys)
c.3761-4201G>A (n.3761-4201G>A)
c.3628G>A (p.Glu1210Lys)
c.5542G>A (p.Glu1848Lys)
c.5266G>A (p.Glu1756Lys)
 COSMIC
9g.115046543C>ACA466912465TNCc.318-4202G>T
c.3215-4202G>T (n.3215-4202G>T)
c.3903G>T (p.Leu1301=)
c.1935G>T (p.Leu645=)
c.591G>T (p.Leu197=)
c.3950G>T
c.4992G>T (p.Leu1664=)
c.4446G>T (p.Leu1482=)
c.4307-4202G>T (n.4307-4202G>T)
n.310G>T
n.253-4202G>T
n.40-4202G>T
c.679G>T
c.4719G>T (p.Leu1573=)
c.4034-4202G>T (n.4034-4202G>T)
c.3354G>T (p.Leu1118=)
c.5268G>T (p.Leu1756=)
c.3488-4202G>T (n.3488-4202G>T)
c.4995G>T (p.Leu1665=)
c.4449G>T (p.Leu1483=)
c.4580-4202G>T (n.4580-4202G>T)
c.4176G>T (p.Leu1392=)
c.3761-4202G>T (n.3761-4202G>T)
c.3627G>T (p.Leu1209=)
c.5541G>T (p.Leu1847=)
c.5265G>T (p.Leu1755=)
9g.115046543C>GCA466912466TNCc.318-4202G>C
c.3215-4202G>C (n.3215-4202G>C)
c.3903G>C (p.Leu1301=)
c.1935G>C (p.Leu645=)
c.591G>C (p.Leu197=)
c.3950G>C
c.4992G>C (p.Leu1664=)
c.4446G>C (p.Leu1482=)
c.4307-4202G>C (n.4307-4202G>C)
n.310G>C
n.253-4202G>C
n.40-4202G>C
c.679G>C
c.4719G>C (p.Leu1573=)
c.4034-4202G>C (n.4034-4202G>C)
c.3354G>C (p.Leu1118=)
c.5268G>C (p.Leu1756=)
c.3488-4202G>C (n.3488-4202G>C)
c.4995G>C (p.Leu1665=)
c.4449G>C (p.Leu1483=)
c.4580-4202G>C (n.4580-4202G>C)
c.4176G>C (p.Leu1392=)
c.3761-4202G>C (n.3761-4202G>C)
c.3627G>C (p.Leu1209=)
c.5541G>C (p.Leu1847=)
c.5265G>C (p.Leu1755=)
9g.115046543C>TCA466912467TNCc.318-4202G>A
c.3215-4202G>A (n.3215-4202G>A)
c.3903G>A (p.Leu1301=)
c.1935G>A (p.Leu645=)
c.591G>A (p.Leu197=)
c.3950G>A
c.4992G>A (p.Leu1664=)
c.4446G>A (p.Leu1482=)
c.4307-4202G>A (n.4307-4202G>A)
n.310G>A
n.253-4202G>A
n.40-4202G>A
c.679G>A
c.4719G>A (p.Leu1573=)
c.4034-4202G>A (n.4034-4202G>A)
c.3354G>A (p.Leu1118=)
c.5268G>A (p.Leu1756=)
c.3488-4202G>A (n.3488-4202G>A)
c.4995G>A (p.Leu1665=)
c.4449G>A (p.Leu1483=)
c.4580-4202G>A (n.4580-4202G>A)
c.4176G>A (p.Leu1392=)
c.3761-4202G>A (n.3761-4202G>A)
c.3627G>A (p.Leu1209=)
c.5541G>A (p.Leu1847=)
c.5265G>A (p.Leu1755=)
9g.115046544A>CCA374631004TNCc.318-4203T>G
c.3215-4203T>G (n.3215-4203T>G)
c.3902T>G (p.Leu1301Arg)
c.1934T>G (p.Leu645Arg)
c.590T>G (p.Leu197Arg)
c.3949T>G
c.4991T>G (p.Leu1664Arg)
c.4445T>G (p.Leu1482Arg)
c.4307-4203T>G (n.4307-4203T>G)
n.309T>G
n.253-4203T>G
n.40-4203T>G
c.678T>G
c.4718T>G (p.Leu1573Arg)
c.4034-4203T>G (n.4034-4203T>G)
c.3353T>G (p.Leu1118Arg)
c.5267T>G (p.Leu1756Arg)
c.3488-4203T>G (n.3488-4203T>G)
c.4994T>G (p.Leu1665Arg)
c.4448T>G (p.Leu1483Arg)
c.4580-4203T>G (n.4580-4203T>G)
c.4175T>G (p.Leu1392Arg)
c.3761-4203T>G (n.3761-4203T>G)
c.3626T>G (p.Leu1209Arg)
c.5540T>G (p.Leu1847Arg)
c.5264T>G (p.Leu1755Arg)
 COSMIC
9g.115046544A>GCA374631006TNCc.318-4203T>C
c.3215-4203T>C (n.3215-4203T>C)
c.3902T>C (p.Leu1301Pro)
c.1934T>C (p.Leu645Pro)
c.590T>C (p.Leu197Pro)
c.3949T>C
c.4991T>C (p.Leu1664Pro)
c.4445T>C (p.Leu1482Pro)
c.4307-4203T>C (n.4307-4203T>C)
n.309T>C
n.253-4203T>C
n.40-4203T>C
c.678T>C
c.4718T>C (p.Leu1573Pro)
c.4034-4203T>C (n.4034-4203T>C)
c.3353T>C (p.Leu1118Pro)
c.5267T>C (p.Leu1756Pro)
c.3488-4203T>C (n.3488-4203T>C)
c.4994T>C (p.Leu1665Pro)
c.4448T>C (p.Leu1483Pro)
c.4580-4203T>C (n.4580-4203T>C)
c.4175T>C (p.Leu1392Pro)
c.3761-4203T>C (n.3761-4203T>C)
c.3626T>C (p.Leu1209Pro)
c.5540T>C (p.Leu1847Pro)
c.5264T>C (p.Leu1755Pro)
9g.115046544A>TCA374631007TNCc.318-4203T>A
c.3215-4203T>A (n.3215-4203T>A)
c.3902T>A (p.Leu1301Gln)
c.1934T>A (p.Leu645Gln)
c.590T>A (p.Leu197Gln)
c.3949T>A
c.4991T>A (p.Leu1664Gln)
c.4445T>A (p.Leu1482Gln)
c.4307-4203T>A (n.4307-4203T>A)
n.309T>A
n.253-4203T>A
n.40-4203T>A
c.678T>A
c.4718T>A (p.Leu1573Gln)
c.4034-4203T>A (n.4034-4203T>A)
c.3353T>A (p.Leu1118Gln)
c.5267T>A (p.Leu1756Gln)
c.3488-4203T>A (n.3488-4203T>A)
c.4994T>A (p.Leu1665Gln)
c.4448T>A (p.Leu1483Gln)
c.4580-4203T>A (n.4580-4203T>A)
c.4175T>A (p.Leu1392Gln)
c.3761-4203T>A (n.3761-4203T>A)
c.3626T>A (p.Leu1209Gln)
c.5540T>A (p.Leu1847Gln)
c.5264T>A (p.Leu1755Gln)
9g.115046545G>ACA466912468TNCc.318-4204C>T
c.3215-4204C>T (n.3215-4204C>T)
c.3901C>T (p.Leu1301=)
c.1933C>T (p.Leu645=)
c.589C>T (p.Leu197=)
c.3948C>T
c.4990C>T (p.Leu1664=)
c.4444C>T (p.Leu1482=)
c.4307-4204C>T (n.4307-4204C>T)
n.308C>T
n.253-4204C>T
n.40-4204C>T
c.677C>T
c.4717C>T (p.Leu1573=)
c.4034-4204C>T (n.4034-4204C>T)
c.3352C>T (p.Leu1118=)
c.5266C>T (p.Leu1756=)
c.3488-4204C>T (n.3488-4204C>T)
c.4993C>T (p.Leu1665=)
c.4447C>T (p.Leu1483=)
c.4580-4204C>T (n.4580-4204C>T)
c.4174C>T (p.Leu1392=)
c.3761-4204C>T (n.3761-4204C>T)
c.3625C>T (p.Leu1209=)
c.5539C>T (p.Leu1847=)
c.5263C>T (p.Leu1755=)
9g.115046545G>CCA374631009TNCc.318-4204C>G
c.3215-4204C>G (n.3215-4204C>G)
c.3901C>G (p.Leu1301Val)
c.1933C>G (p.Leu645Val)
c.589C>G (p.Leu197Val)
c.3948C>G
c.4990C>G (p.Leu1664Val)
c.4444C>G (p.Leu1482Val)
c.4307-4204C>G (n.4307-4204C>G)
n.308C>G
n.253-4204C>G
n.40-4204C>G
c.677C>G
c.4717C>G (p.Leu1573Val)
c.4034-4204C>G (n.4034-4204C>G)
c.3352C>G (p.Leu1118Val)
c.5266C>G (p.Leu1756Val)
c.3488-4204C>G (n.3488-4204C>G)
c.4993C>G (p.Leu1665Val)
c.4447C>G (p.Leu1483Val)
c.4580-4204C>G (n.4580-4204C>G)
c.4174C>G (p.Leu1392Val)
c.3761-4204C>G (n.3761-4204C>G)
c.3625C>G (p.Leu1209Val)
c.5539C>G (p.Leu1847Val)
c.5263C>G (p.Leu1755Val)
9g.115046545G>TCA374631010TNCc.318-4204C>A
c.3215-4204C>A (n.3215-4204C>A)
c.3901C>A (p.Leu1301Met)
c.1933C>A (p.Leu645Met)
c.589C>A (p.Leu197Met)
c.3948C>A
c.4990C>A (p.Leu1664Met)
c.4444C>A (p.Leu1482Met)
c.4307-4204C>A (n.4307-4204C>A)
n.308C>A
n.253-4204C>A
n.40-4204C>A
c.677C>A
c.4717C>A (p.Leu1573Met)
c.4034-4204C>A (n.4034-4204C>A)
c.3352C>A (p.Leu1118Met)
c.5266C>A (p.Leu1756Met)
c.3488-4204C>A (n.3488-4204C>A)
c.4993C>A (p.Leu1665Met)
c.4447C>A (p.Leu1483Met)
c.4580-4204C>A (n.4580-4204C>A)
c.4174C>A (p.Leu1392Met)
c.3761-4204C>A (n.3761-4204C>A)
c.3625C>A (p.Leu1209Met)
c.5539C>A (p.Leu1847Met)
c.5263C>A (p.Leu1755Met)
9g.115046546T>ACA466912470TNCc.318-4205A>T
c.3215-4205A>T (n.3215-4205A>T)
c.3900A>T (p.Pro1300=)
c.1932A>T (p.Pro644=)
c.588A>T (p.Pro196=)
c.3947A>T
c.4989A>T (p.Pro1663=)
c.4443A>T (p.Pro1481=)
c.4307-4205A>T (n.4307-4205A>T)
n.307A>T
n.253-4205A>T
n.40-4205A>T
c.676A>T
c.4716A>T (p.Pro1572=)
c.4034-4205A>T (n.4034-4205A>T)
c.3351A>T (p.Pro1117=)
c.5265A>T (p.Pro1755=)
c.3488-4205A>T (n.3488-4205A>T)
c.4992A>T (p.Pro1664=)
c.4446A>T (p.Pro1482=)
c.4580-4205A>T (n.4580-4205A>T)
c.4173A>T (p.Pro1391=)
c.3761-4205A>T (n.3761-4205A>T)
c.3624A>T (p.Pro1208=)
c.5538A>T (p.Pro1846=)
c.5262A>T (p.Pro1754=)
9g.115046546T>CCA5207774TNCc.318-4205A>G
c.3215-4205A>G (n.3215-4205A>G)
c.3900A>G (p.Pro1300=)
c.1932A>G (p.Pro644=)
c.588A>G (p.Pro196=)
c.3947A>G
c.4989A>G (p.Pro1663=)
c.4443A>G (p.Pro1481=)
c.4307-4205A>G (n.4307-4205A>G)
n.307A>G
n.253-4205A>G
n.40-4205A>G
c.676A>G
c.4716A>G (p.Pro1572=)
c.4034-4205A>G (n.4034-4205A>G)
c.3351A>G (p.Pro1117=)
c.5265A>G (p.Pro1755=)
c.3488-4205A>G (n.3488-4205A>G)
c.4992A>G (p.Pro1664=)
c.4446A>G (p.Pro1482=)
c.4580-4205A>G (n.4580-4205A>G)
c.4173A>G (p.Pro1391=)
c.3761-4205A>G (n.3761-4205A>G)
c.3624A>G (p.Pro1208=)
c.5538A>G (p.Pro1846=)
c.5262A>G (p.Pro1754=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046546T>GCA466912471TNCc.318-4205A>C
c.3215-4205A>C (n.3215-4205A>C)
c.3900A>C (p.Pro1300=)
c.1932A>C (p.Pro644=)
c.588A>C (p.Pro196=)
c.3947A>C
c.4989A>C (p.Pro1663=)
c.4443A>C (p.Pro1481=)
c.4307-4205A>C (n.4307-4205A>C)
n.307A>C
n.253-4205A>C
n.40-4205A>C
c.676A>C
c.4716A>C (p.Pro1572=)
c.4034-4205A>C (n.4034-4205A>C)
c.3351A>C (p.Pro1117=)
c.5265A>C (p.Pro1755=)
c.3488-4205A>C (n.3488-4205A>C)
c.4992A>C (p.Pro1664=)
c.4446A>C (p.Pro1482=)
c.4580-4205A>C (n.4580-4205A>C)
c.4173A>C (p.Pro1391=)
c.3761-4205A>C (n.3761-4205A>C)
c.3624A>C (p.Pro1208=)
c.5538A>C (p.Pro1846=)
c.5262A>C (p.Pro1754=)
9g.115046546T=CA1874118905TNCc.318-4205A=
c.3215-4205A= (n.3215-4205A=)
c.3900A= (p.Pro1300=)
c.1932A= (p.Pro644=)
c.588A= (p.Pro196=)
c.3947A=
c.4989A= (p.Pro1663=)
c.4443A= (p.Pro1481=)
c.4307-4205A= (n.4307-4205A=)
n.307A=
n.253-4205A=
n.40-4205A=
c.676A=
c.4716A= (p.Pro1572=)
c.4034-4205A= (n.4034-4205A=)
c.3351A= (p.Pro1117=)
c.5265A= (p.Pro1755=)
c.3488-4205A= (n.3488-4205A=)
c.4992A= (p.Pro1664=)
c.4446A= (p.Pro1482=)
c.4580-4205A= (n.4580-4205A=)
c.4173A= (p.Pro1391=)
c.3761-4205A= (n.3761-4205A=)
c.3624A= (p.Pro1208=)
c.5538A= (p.Pro1846=)
c.5262A= (p.Pro1754=)
9g.115046547G>ACA374631014TNCc.318-4206C>T
c.3215-4206C>T (n.3215-4206C>T)
c.3899C>T (p.Pro1300Leu)
c.1931C>T (p.Pro644Leu)
c.587C>T (p.Pro196Leu)
c.3946C>T
c.4988C>T (p.Pro1663Leu)
c.4442C>T (p.Pro1481Leu)
c.4307-4206C>T (n.4307-4206C>T)
n.306C>T
n.253-4206C>T
n.40-4206C>T
c.675C>T
c.4715C>T (p.Pro1572Leu)
c.4034-4206C>T (n.4034-4206C>T)
c.3350C>T (p.Pro1117Leu)
c.5264C>T (p.Pro1755Leu)
c.3488-4206C>T (n.3488-4206C>T)
c.4991C>T (p.Pro1664Leu)
c.4445C>T (p.Pro1482Leu)
c.4580-4206C>T (n.4580-4206C>T)
c.4172C>T (p.Pro1391Leu)
c.3761-4206C>T (n.3761-4206C>T)
c.3623C>T (p.Pro1208Leu)
c.5537C>T (p.Pro1846Leu)
c.5261C>T (p.Pro1754Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.115046547G>CCA374631012TNCc.318-4206C>G
c.3215-4206C>G (n.3215-4206C>G)
c.3899C>G (p.Pro1300Arg)
c.1931C>G (p.Pro644Arg)
c.587C>G (p.Pro196Arg)
c.3946C>G
c.4988C>G (p.Pro1663Arg)
c.4442C>G (p.Pro1481Arg)
c.4307-4206C>G (n.4307-4206C>G)
n.306C>G
n.253-4206C>G
n.40-4206C>G
c.675C>G
c.4715C>G (p.Pro1572Arg)
c.4034-4206C>G (n.4034-4206C>G)
c.3350C>G (p.Pro1117Arg)
c.5264C>G (p.Pro1755Arg)
c.3488-4206C>G (n.3488-4206C>G)
c.4991C>G (p.Pro1664Arg)
c.4445C>G (p.Pro1482Arg)
c.4580-4206C>G (n.4580-4206C>G)
c.4172C>G (p.Pro1391Arg)
c.3761-4206C>G (n.3761-4206C>G)
c.3623C>G (p.Pro1208Arg)
c.5537C>G (p.Pro1846Arg)
c.5261C>G (p.Pro1754Arg)
9g.115046547G=CA1874118906TNCc.318-4206C=
c.3215-4206C= (n.3215-4206C=)
c.3899C= (p.Pro1300=)
c.1931C= (p.Pro644=)
c.587C= (p.Pro196=)
c.3946C=
c.4988C= (p.Pro1663=)
c.4442C= (p.Pro1481=)
c.4307-4206C= (n.4307-4206C=)
n.306C=
n.253-4206C=
n.40-4206C=
c.675C=
c.4715C= (p.Pro1572=)
c.4034-4206C= (n.4034-4206C=)
c.3350C= (p.Pro1117=)
c.5264C= (p.Pro1755=)
c.3488-4206C= (n.3488-4206C=)
c.4991C= (p.Pro1664=)
c.4445C= (p.Pro1482=)
c.4580-4206C= (n.4580-4206C=)
c.4172C= (p.Pro1391=)
c.3761-4206C= (n.3761-4206C=)
c.3623C= (p.Pro1208=)
c.5537C= (p.Pro1846=)
c.5261C= (p.Pro1754=)
9g.115046547G>TCA374631015TNCc.318-4206C>A
c.3215-4206C>A (n.3215-4206C>A)
c.3899C>A (p.Pro1300Gln)
c.1931C>A (p.Pro644Gln)
c.587C>A (p.Pro196Gln)
c.3946C>A
c.4988C>A (p.Pro1663Gln)
c.4442C>A (p.Pro1481Gln)
c.4307-4206C>A (n.4307-4206C>A)
n.306C>A
n.253-4206C>A
n.40-4206C>A
c.675C>A
c.4715C>A (p.Pro1572Gln)
c.4034-4206C>A (n.4034-4206C>A)
c.3350C>A (p.Pro1117Gln)
c.5264C>A (p.Pro1755Gln)
c.3488-4206C>A (n.3488-4206C>A)
c.4991C>A (p.Pro1664Gln)
c.4445C>A (p.Pro1482Gln)
c.4580-4206C>A (n.4580-4206C>A)
c.4172C>A (p.Pro1391Gln)
c.3761-4206C>A (n.3761-4206C>A)
c.3623C>A (p.Pro1208Gln)
c.5537C>A (p.Pro1846Gln)
c.5261C>A (p.Pro1754Gln)
9g.115046548G>ACA374631017TNCc.318-4207C>T
c.3215-4207C>T (n.3215-4207C>T)
c.3898C>T (p.Pro1300Ser)
c.1930C>T (p.Pro644Ser)
c.586C>T (p.Pro196Ser)
c.3945C>T
c.4987C>T (p.Pro1663Ser)
c.4441C>T (p.Pro1481Ser)
c.4307-4207C>T (n.4307-4207C>T)
n.305C>T
n.253-4207C>T
n.40-4207C>T
c.674C>T
c.4714C>T (p.Pro1572Ser)
c.4034-4207C>T (n.4034-4207C>T)
c.3349C>T (p.Pro1117Ser)
c.5263C>T (p.Pro1755Ser)
c.3488-4207C>T (n.3488-4207C>T)
c.4990C>T (p.Pro1664Ser)
c.4444C>T (p.Pro1482Ser)
c.4580-4207C>T (n.4580-4207C>T)
c.4171C>T (p.Pro1391Ser)
c.3761-4207C>T (n.3761-4207C>T)
c.3622C>T (p.Pro1208Ser)
c.5536C>T (p.Pro1846Ser)
c.5260C>T (p.Pro1754Ser)
9g.115046548G>CCA374631018TNCc.318-4207C>G
c.3215-4207C>G (n.3215-4207C>G)
c.3898C>G (p.Pro1300Ala)
c.1930C>G (p.Pro644Ala)
c.586C>G (p.Pro196Ala)
c.3945C>G
c.4987C>G (p.Pro1663Ala)
c.4441C>G (p.Pro1481Ala)
c.4307-4207C>G (n.4307-4207C>G)
n.305C>G
n.253-4207C>G
n.40-4207C>G
c.674C>G
c.4714C>G (p.Pro1572Ala)
c.4034-4207C>G (n.4034-4207C>G)
c.3349C>G (p.Pro1117Ala)
c.5263C>G (p.Pro1755Ala)
c.3488-4207C>G (n.3488-4207C>G)
c.4990C>G (p.Pro1664Ala)
c.4444C>G (p.Pro1482Ala)
c.4580-4207C>G (n.4580-4207C>G)
c.4171C>G (p.Pro1391Ala)
c.3761-4207C>G (n.3761-4207C>G)
c.3622C>G (p.Pro1208Ala)
c.5536C>G (p.Pro1846Ala)
c.5260C>G (p.Pro1754Ala)
9g.115046548G=CA1874118907TNCc.318-4207C=
c.3215-4207C= (n.3215-4207C=)
c.3898C= (p.Pro1300=)
c.1930C= (p.Pro644=)
c.586C= (p.Pro196=)
c.3945C=
c.4987C= (p.Pro1663=)
c.4441C= (p.Pro1481=)
c.4307-4207C= (n.4307-4207C=)
n.305C=
n.253-4207C=
n.40-4207C=
c.674C=
c.4714C= (p.Pro1572=)
c.4034-4207C= (n.4034-4207C=)
c.3349C= (p.Pro1117=)
c.5263C= (p.Pro1755=)
c.3488-4207C= (n.3488-4207C=)
c.4990C= (p.Pro1664=)
c.4444C= (p.Pro1482=)
c.4580-4207C= (n.4580-4207C=)
c.4171C= (p.Pro1391=)
c.3761-4207C= (n.3761-4207C=)
c.3622C= (p.Pro1208=)
c.5536C= (p.Pro1846=)
c.5260C= (p.Pro1754=)
9g.115046548G>TCA5207775TNCc.318-4207C>A
c.3215-4207C>A (n.3215-4207C>A)
c.3898C>A (p.Pro1300Thr)
c.1930C>A (p.Pro644Thr)
c.586C>A (p.Pro196Thr)
c.3945C>A
c.4987C>A (p.Pro1663Thr)
c.4441C>A (p.Pro1481Thr)
c.4307-4207C>A (n.4307-4207C>A)
n.305C>A
n.253-4207C>A
n.40-4207C>A
c.674C>A
c.4714C>A (p.Pro1572Thr)
c.4034-4207C>A (n.4034-4207C>A)
c.3349C>A (p.Pro1117Thr)
c.5263C>A (p.Pro1755Thr)
c.3488-4207C>A (n.3488-4207C>A)
c.4990C>A (p.Pro1664Thr)
c.4444C>A (p.Pro1482Thr)
c.4580-4207C>A (n.4580-4207C>A)
c.4171C>A (p.Pro1391Thr)
c.3761-4207C>A (n.3761-4207C>A)
c.3622C>A (p.Pro1208Thr)
c.5536C>A (p.Pro1846Thr)
c.5260C>A (p.Pro1754Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046549C>ACA374631021TNCc.318-4208G>T
c.3215-4208G>T (n.3215-4208G>T)
c.3897G>T (p.Glu1299Asp)
c.1929G>T (p.Glu643Asp)
c.585G>T (p.Glu195Asp)
c.3944G>T
c.4986G>T (p.Glu1662Asp)
c.4440G>T (p.Glu1480Asp)
c.4307-4208G>T (n.4307-4208G>T)
n.304G>T
n.253-4208G>T
n.40-4208G>T
c.673G>T
c.4713G>T (p.Glu1571Asp)
c.4034-4208G>T (n.4034-4208G>T)
c.3348G>T (p.Glu1116Asp)
c.5262G>T (p.Glu1754Asp)
c.3488-4208G>T (n.3488-4208G>T)
c.4989G>T (p.Glu1663Asp)
c.4443G>T (p.Glu1481Asp)
c.4580-4208G>T (n.4580-4208G>T)
c.4170G>T (p.Glu1390Asp)
c.3761-4208G>T (n.3761-4208G>T)
c.3621G>T (p.Glu1207Asp)
c.5535G>T (p.Glu1845Asp)
c.5259G>T (p.Glu1753Asp)
9g.115046549C>GCA374631022TNCc.318-4208G>C
c.3215-4208G>C (n.3215-4208G>C)
c.3897G>C (p.Glu1299Asp)
c.1929G>C (p.Glu643Asp)
c.585G>C (p.Glu195Asp)
c.3944G>C
c.4986G>C (p.Glu1662Asp)
c.4440G>C (p.Glu1480Asp)
c.4307-4208G>C (n.4307-4208G>C)
n.304G>C
n.253-4208G>C
n.40-4208G>C
c.673G>C
c.4713G>C (p.Glu1571Asp)
c.4034-4208G>C (n.4034-4208G>C)
c.3348G>C (p.Glu1116Asp)
c.5262G>C (p.Glu1754Asp)
c.3488-4208G>C (n.3488-4208G>C)
c.4989G>C (p.Glu1663Asp)
c.4443G>C (p.Glu1481Asp)
c.4580-4208G>C (n.4580-4208G>C)
c.4170G>C (p.Glu1390Asp)
c.3761-4208G>C (n.3761-4208G>C)
c.3621G>C (p.Glu1207Asp)
c.5535G>C (p.Glu1845Asp)
c.5259G>C (p.Glu1753Asp)
9g.115046549C>TCA466912472TNCc.318-4208G>A
c.3215-4208G>A (n.3215-4208G>A)
c.3897G>A (p.Glu1299=)
c.1929G>A (p.Glu643=)
c.585G>A (p.Glu195=)
c.3944G>A
c.4986G>A (p.Glu1662=)
c.4440G>A (p.Glu1480=)
c.4307-4208G>A (n.4307-4208G>A)
n.304G>A
n.253-4208G>A
n.40-4208G>A
c.673G>A
c.4713G>A (p.Glu1571=)
c.4034-4208G>A (n.4034-4208G>A)
c.3348G>A (p.Glu1116=)
c.5262G>A (p.Glu1754=)
c.3488-4208G>A (n.3488-4208G>A)
c.4989G>A (p.Glu1663=)
c.4443G>A (p.Glu1481=)
c.4580-4208G>A (n.4580-4208G>A)
c.4170G>A (p.Glu1390=)
c.3761-4208G>A (n.3761-4208G>A)
c.3621G>A (p.Glu1207=)
c.5535G>A (p.Glu1845=)
c.5259G>A (p.Glu1753=)
9g.115046550T>ACA374631024TNCc.318-4209A>T
c.3215-4209A>T (n.3215-4209A>T)
c.3896A>T (p.Glu1299Val)
c.1928A>T (p.Glu643Val)
c.584A>T (p.Glu195Val)
c.3943A>T
c.4985A>T (p.Glu1662Val)
c.4439A>T (p.Glu1480Val)
c.4307-4209A>T (n.4307-4209A>T)
n.303A>T
n.253-4209A>T
n.40-4209A>T
c.672A>T
c.4712A>T (p.Glu1571Val)
c.4034-4209A>T (n.4034-4209A>T)
c.3347A>T (p.Glu1116Val)
c.5261A>T (p.Glu1754Val)
c.3488-4209A>T (n.3488-4209A>T)
c.4988A>T (p.Glu1663Val)
c.4442A>T (p.Glu1481Val)
c.4580-4209A>T (n.4580-4209A>T)
c.4169A>T (p.Glu1390Val)
c.3761-4209A>T (n.3761-4209A>T)
c.3620A>T (p.Glu1207Val)
c.5534A>T (p.Glu1845Val)
c.5258A>T (p.Glu1753Val)
9g.115046550T>CCA374631025TNCc.318-4209A>G
c.3215-4209A>G (n.3215-4209A>G)
c.3896A>G (p.Glu1299Gly)
c.1928A>G (p.Glu643Gly)
c.584A>G (p.Glu195Gly)
c.3943A>G
c.4985A>G (p.Glu1662Gly)
c.4439A>G (p.Glu1480Gly)
c.4307-4209A>G (n.4307-4209A>G)
n.303A>G
n.253-4209A>G
n.40-4209A>G
c.672A>G
c.4712A>G (p.Glu1571Gly)
c.4034-4209A>G (n.4034-4209A>G)
c.3347A>G (p.Glu1116Gly)
c.5261A>G (p.Glu1754Gly)
c.3488-4209A>G (n.3488-4209A>G)
c.4988A>G (p.Glu1663Gly)
c.4442A>G (p.Glu1481Gly)
c.4580-4209A>G (n.4580-4209A>G)
c.4169A>G (p.Glu1390Gly)
c.3761-4209A>G (n.3761-4209A>G)
c.3620A>G (p.Glu1207Gly)
c.5534A>G (p.Glu1845Gly)
c.5258A>G (p.Glu1753Gly)
9g.115046550T>GCA374631027TNCc.318-4209A>C
c.3215-4209A>C (n.3215-4209A>C)
c.3896A>C (p.Glu1299Ala)
c.1928A>C (p.Glu643Ala)
c.584A>C (p.Glu195Ala)
c.3943A>C
c.4985A>C (p.Glu1662Ala)
c.4439A>C (p.Glu1480Ala)
c.4307-4209A>C (n.4307-4209A>C)
n.303A>C
n.253-4209A>C
n.40-4209A>C
c.672A>C
c.4712A>C (p.Glu1571Ala)
c.4034-4209A>C (n.4034-4209A>C)
c.3347A>C (p.Glu1116Ala)
c.5261A>C (p.Glu1754Ala)
c.3488-4209A>C (n.3488-4209A>C)
c.4988A>C (p.Glu1663Ala)
c.4442A>C (p.Glu1481Ala)
c.4580-4209A>C (n.4580-4209A>C)
c.4169A>C (p.Glu1390Ala)
c.3761-4209A>C (n.3761-4209A>C)
c.3620A>C (p.Glu1207Ala)
c.5534A>C (p.Glu1845Ala)
c.5258A>C (p.Glu1753Ala)
9g.115046551C>ACA374631029TNCc.318-4210G>T
c.3215-4210G>T (n.3215-4210G>T)
c.3895G>T (p.Glu1299Ter)
c.1927G>T (p.Glu643Ter)
c.583G>T (p.Glu195Ter)
c.3942G>T
c.4984G>T (p.Glu1662Ter)
c.4438G>T (p.Glu1480Ter)
c.4307-4210G>T (n.4307-4210G>T)
n.302G>T
n.253-4210G>T
n.40-4210G>T
c.671G>T
c.4711G>T (p.Glu1571Ter)
c.4034-4210G>T (n.4034-4210G>T)
c.3346G>T (p.Glu1116Ter)
c.5260G>T (p.Glu1754Ter)
c.3488-4210G>T (n.3488-4210G>T)
c.4987G>T (p.Glu1663Ter)
c.4441G>T (p.Glu1481Ter)
c.4580-4210G>T (n.4580-4210G>T)
c.4168G>T (p.Glu1390Ter)
c.3761-4210G>T (n.3761-4210G>T)
c.3619G>T (p.Glu1207Ter)
c.5533G>T (p.Glu1845Ter)
c.5257G>T (p.Glu1753Ter)
9g.115046551C>GCA374631031TNCc.318-4210G>C
c.3215-4210G>C (n.3215-4210G>C)
c.3895G>C (p.Glu1299Gln)
c.1927G>C (p.Glu643Gln)
c.583G>C (p.Glu195Gln)
c.3942G>C
c.4984G>C (p.Glu1662Gln)
c.4438G>C (p.Glu1480Gln)
c.4307-4210G>C (n.4307-4210G>C)
n.302G>C
n.253-4210G>C
n.40-4210G>C
c.671G>C
c.4711G>C (p.Glu1571Gln)
c.4034-4210G>C (n.4034-4210G>C)
c.3346G>C (p.Glu1116Gln)
c.5260G>C (p.Glu1754Gln)
c.3488-4210G>C (n.3488-4210G>C)
c.4987G>C (p.Glu1663Gln)
c.4441G>C (p.Glu1481Gln)
c.4580-4210G>C (n.4580-4210G>C)
c.4168G>C (p.Glu1390Gln)
c.3761-4210G>C (n.3761-4210G>C)
c.3619G>C (p.Glu1207Gln)
c.5533G>C (p.Glu1845Gln)
c.5257G>C (p.Glu1753Gln)
9g.115046551C>TCA374631032TNCc.318-4210G>A
c.3215-4210G>A (n.3215-4210G>A)
c.3895G>A (p.Glu1299Lys)
c.1927G>A (p.Glu643Lys)
c.583G>A (p.Glu195Lys)
c.3942G>A
c.4984G>A (p.Glu1662Lys)
c.4438G>A (p.Glu1480Lys)
c.4307-4210G>A (n.4307-4210G>A)
n.302G>A
n.253-4210G>A
n.40-4210G>A
c.671G>A
c.4711G>A (p.Glu1571Lys)
c.4034-4210G>A (n.4034-4210G>A)
c.3346G>A (p.Glu1116Lys)
c.5260G>A (p.Glu1754Lys)
c.3488-4210G>A (n.3488-4210G>A)
c.4987G>A (p.Glu1663Lys)
c.4441G>A (p.Glu1481Lys)
c.4580-4210G>A (n.4580-4210G>A)
c.4168G>A (p.Glu1390Lys)
c.3761-4210G>A (n.3761-4210G>A)
c.3619G>A (p.Glu1207Lys)
c.5533G>A (p.Glu1845Lys)
c.5257G>A (p.Glu1753Lys)
 gnomAD v4
9g.115046552A>CCA466912473TNCc.318-4211T>G
c.3215-4211T>G (n.3215-4211T>G)
c.3894T>G (p.Ser1298=)
c.1926T>G (p.Ser642=)
c.582T>G (p.Ser194=)
c.3941T>G
c.4983T>G (p.Ser1661=)
c.4437T>G (p.Ser1479=)
c.4307-4211T>G (n.4307-4211T>G)
n.301T>G
n.253-4211T>G
n.40-4211T>G
c.670T>G
c.4710T>G (p.Ser1570=)
c.4034-4211T>G (n.4034-4211T>G)
c.3345T>G (p.Ser1115=)
c.5259T>G (p.Ser1753=)
c.3488-4211T>G (n.3488-4211T>G)
c.4986T>G (p.Ser1662=)
c.4440T>G (p.Ser1480=)
c.4580-4211T>G (n.4580-4211T>G)
c.4167T>G (p.Ser1389=)
c.3761-4211T>G (n.3761-4211T>G)
c.3618T>G (p.Ser1206=)
c.5532T>G (p.Ser1844=)
c.5256T>G (p.Ser1752=)
 COSMIC
9g.115046552A>GCA466912474TNCc.318-4211T>C
c.3215-4211T>C (n.3215-4211T>C)
c.3894T>C (p.Ser1298=)
c.1926T>C (p.Ser642=)
c.582T>C (p.Ser194=)
c.3941T>C
c.4983T>C (p.Ser1661=)
c.4437T>C (p.Ser1479=)
c.4307-4211T>C (n.4307-4211T>C)
n.301T>C
n.253-4211T>C
n.40-4211T>C
c.670T>C
c.4710T>C (p.Ser1570=)
c.4034-4211T>C (n.4034-4211T>C)
c.3345T>C (p.Ser1115=)
c.5259T>C (p.Ser1753=)
c.3488-4211T>C (n.3488-4211T>C)
c.4986T>C (p.Ser1662=)
c.4440T>C (p.Ser1480=)
c.4580-4211T>C (n.4580-4211T>C)
c.4167T>C (p.Ser1389=)
c.3761-4211T>C (n.3761-4211T>C)
c.3618T>C (p.Ser1206=)
c.5532T>C (p.Ser1844=)
c.5256T>C (p.Ser1752=)
9g.115046552A>TCA466912476TNCc.318-4211T>A
c.3215-4211T>A (n.3215-4211T>A)
c.3894T>A (p.Ser1298=)
c.1926T>A (p.Ser642=)
c.582T>A (p.Ser194=)
c.3941T>A
c.4983T>A (p.Ser1661=)
c.4437T>A (p.Ser1479=)
c.4307-4211T>A (n.4307-4211T>A)
n.301T>A
n.253-4211T>A
n.40-4211T>A
c.670T>A
c.4710T>A (p.Ser1570=)
c.4034-4211T>A (n.4034-4211T>A)
c.3345T>A (p.Ser1115=)
c.5259T>A (p.Ser1753=)
c.3488-4211T>A (n.3488-4211T>A)
c.4986T>A (p.Ser1662=)
c.4440T>A (p.Ser1480=)
c.4580-4211T>A (n.4580-4211T>A)
c.4167T>A (p.Ser1389=)
c.3761-4211T>A (n.3761-4211T>A)
c.3618T>A (p.Ser1206=)
c.5532T>A (p.Ser1844=)
c.5256T>A (p.Ser1752=)
9g.115046553G>ACA374631036TNCc.318-4212C>T
c.3215-4212C>T (n.3215-4212C>T)
c.3893C>T (p.Ser1298Phe)
c.1925C>T (p.Ser642Phe)
c.581C>T (p.Ser194Phe)
c.3940C>T
c.4982C>T (p.Ser1661Phe)
c.4436C>T (p.Ser1479Phe)
c.4307-4212C>T (n.4307-4212C>T)
n.300C>T
n.253-4212C>T
n.40-4212C>T
c.669C>T
c.4709C>T (p.Ser1570Phe)
c.4034-4212C>T (n.4034-4212C>T)
c.3344C>T (p.Ser1115Phe)
c.5258C>T (p.Ser1753Phe)
c.3488-4212C>T (n.3488-4212C>T)
c.4985C>T (p.Ser1662Phe)
c.4439C>T (p.Ser1480Phe)
c.4580-4212C>T (n.4580-4212C>T)
c.4166C>T (p.Ser1389Phe)
c.3761-4212C>T (n.3761-4212C>T)
c.3617C>T (p.Ser1206Phe)
c.5531C>T (p.Ser1844Phe)
c.5255C>T (p.Ser1752Phe)
9g.115046553G>CCA374631035TNCc.318-4212C>G
c.3215-4212C>G (n.3215-4212C>G)
c.3893C>G (p.Ser1298Cys)
c.1925C>G (p.Ser642Cys)
c.581C>G (p.Ser194Cys)
c.3940C>G
c.4982C>G (p.Ser1661Cys)
c.4436C>G (p.Ser1479Cys)
c.4307-4212C>G (n.4307-4212C>G)
n.300C>G
n.253-4212C>G
n.40-4212C>G
c.669C>G
c.4709C>G (p.Ser1570Cys)
c.4034-4212C>G (n.4034-4212C>G)
c.3344C>G (p.Ser1115Cys)
c.5258C>G (p.Ser1753Cys)
c.3488-4212C>G (n.3488-4212C>G)
c.4985C>G (p.Ser1662Cys)
c.4439C>G (p.Ser1480Cys)
c.4580-4212C>G (n.4580-4212C>G)
c.4166C>G (p.Ser1389Cys)
c.3761-4212C>G (n.3761-4212C>G)
c.3617C>G (p.Ser1206Cys)
c.5531C>G (p.Ser1844Cys)
c.5255C>G (p.Ser1752Cys)
9g.115046553G>TCA374631033TNCc.318-4212C>A
c.3215-4212C>A (n.3215-4212C>A)
c.3893C>A (p.Ser1298Tyr)
c.1925C>A (p.Ser642Tyr)
c.581C>A (p.Ser194Tyr)
c.3940C>A
c.4982C>A (p.Ser1661Tyr)
c.4436C>A (p.Ser1479Tyr)
c.4307-4212C>A (n.4307-4212C>A)
n.300C>A
n.253-4212C>A
n.40-4212C>A
c.669C>A
c.4709C>A (p.Ser1570Tyr)
c.4034-4212C>A (n.4034-4212C>A)
c.3344C>A (p.Ser1115Tyr)
c.5258C>A (p.Ser1753Tyr)
c.3488-4212C>A (n.3488-4212C>A)
c.4985C>A (p.Ser1662Tyr)
c.4439C>A (p.Ser1480Tyr)
c.4580-4212C>A (n.4580-4212C>A)
c.4166C>A (p.Ser1389Tyr)
c.3761-4212C>A (n.3761-4212C>A)
c.3617C>A (p.Ser1206Tyr)
c.5531C>A (p.Ser1844Tyr)
c.5255C>A (p.Ser1752Tyr)
9g.115046554A=CA1874118908TNCc.318-4213T=
c.3215-4213T= (n.3215-4213T=)
c.3892T= (p.Ser1298=)
c.1924T= (p.Ser642=)
c.580T= (p.Ser194=)
c.3939T=
c.4981T= (p.Ser1661=)
c.4435T= (p.Ser1479=)
c.4307-4213T= (n.4307-4213T=)
n.299T=
n.253-4213T=
n.40-4213T=
c.668T=
c.4708T= (p.Ser1570=)
c.4034-4213T= (n.4034-4213T=)
c.3343T= (p.Ser1115=)
c.5257T= (p.Ser1753=)
c.3488-4213T= (n.3488-4213T=)
c.4984T= (p.Ser1662=)
c.4438T= (p.Ser1480=)
c.4580-4213T= (n.4580-4213T=)
c.4165T= (p.Ser1389=)
c.3761-4213T= (n.3761-4213T=)
c.3616T= (p.Ser1206=)
c.5530T= (p.Ser1844=)
c.5254T= (p.Ser1752=)
9g.115046554A>CCA374631038TNCc.318-4213T>G
c.3215-4213T>G (n.3215-4213T>G)
c.3892T>G (p.Ser1298Ala)
c.1924T>G (p.Ser642Ala)
c.580T>G (p.Ser194Ala)
c.3939T>G
c.4981T>G (p.Ser1661Ala)
c.4435T>G (p.Ser1479Ala)
c.4307-4213T>G (n.4307-4213T>G)
n.299T>G
n.253-4213T>G
n.40-4213T>G
c.668T>G
c.4708T>G (p.Ser1570Ala)
c.4034-4213T>G (n.4034-4213T>G)
c.3343T>G (p.Ser1115Ala)
c.5257T>G (p.Ser1753Ala)
c.3488-4213T>G (n.3488-4213T>G)
c.4984T>G (p.Ser1662Ala)
c.4438T>G (p.Ser1480Ala)
c.4580-4213T>G (n.4580-4213T>G)
c.4165T>G (p.Ser1389Ala)
c.3761-4213T>G (n.3761-4213T>G)
c.3616T>G (p.Ser1206Ala)
c.5530T>G (p.Ser1844Ala)
c.5254T>G (p.Ser1752Ala)
9g.115046554A>GCA374631039TNCc.318-4213T>C
c.3215-4213T>C (n.3215-4213T>C)
c.3892T>C (p.Ser1298Pro)
c.1924T>C (p.Ser642Pro)
c.580T>C (p.Ser194Pro)
c.3939T>C
c.4981T>C (p.Ser1661Pro)
c.4435T>C (p.Ser1479Pro)
c.4307-4213T>C (n.4307-4213T>C)
n.299T>C
n.253-4213T>C
n.40-4213T>C
c.668T>C
c.4708T>C (p.Ser1570Pro)
c.4034-4213T>C (n.4034-4213T>C)
c.3343T>C (p.Ser1115Pro)
c.5257T>C (p.Ser1753Pro)
c.3488-4213T>C (n.3488-4213T>C)
c.4984T>C (p.Ser1662Pro)
c.4438T>C (p.Ser1480Pro)
c.4580-4213T>C (n.4580-4213T>C)
c.4165T>C (p.Ser1389Pro)
c.3761-4213T>C (n.3761-4213T>C)
c.3616T>C (p.Ser1206Pro)
c.5530T>C (p.Ser1844Pro)
c.5254T>C (p.Ser1752Pro)
9g.115046554A>TCA374631040TNCc.318-4213T>A
c.3215-4213T>A (n.3215-4213T>A)
c.3892T>A (p.Ser1298Thr)
c.1924T>A (p.Ser642Thr)
c.580T>A (p.Ser194Thr)
c.3939T>A
c.4981T>A (p.Ser1661Thr)
c.4435T>A (p.Ser1479Thr)
c.4307-4213T>A (n.4307-4213T>A)
n.299T>A
n.253-4213T>A
n.40-4213T>A
c.668T>A
c.4708T>A (p.Ser1570Thr)
c.4034-4213T>A (n.4034-4213T>A)
c.3343T>A (p.Ser1115Thr)
c.5257T>A (p.Ser1753Thr)
c.3488-4213T>A (n.3488-4213T>A)
c.4984T>A (p.Ser1662Thr)
c.4438T>A (p.Ser1480Thr)
c.4580-4213T>A (n.4580-4213T>A)
c.4165T>A (p.Ser1389Thr)
c.3761-4213T>A (n.3761-4213T>A)
c.3616T>A (p.Ser1206Thr)
c.5530T>A (p.Ser1844Thr)
c.5254T>A (p.Ser1752Thr)
 dbSNP
9g.115046555C>ACA374631042TNCc.318-4214G>T
c.3215-4214G>T (n.3215-4214G>T)
c.3891G>T (p.Gln1297His)
c.1923G>T (p.Gln641His)
c.579G>T (p.Gln193His)
c.3938G>T
c.4980G>T (p.Gln1660His)
c.4434G>T (p.Gln1478His)
c.4307-4214G>T (n.4307-4214G>T)
n.298G>T
n.253-4214G>T
n.40-4214G>T
c.667G>T
c.4707G>T (p.Gln1569His)
c.4034-4214G>T (n.4034-4214G>T)
c.3342G>T (p.Gln1114His)
c.5256G>T (p.Gln1752His)
c.3488-4214G>T (n.3488-4214G>T)
c.4983G>T (p.Gln1661His)
c.4437G>T (p.Gln1479His)
c.4580-4214G>T (n.4580-4214G>T)
c.4164G>T (p.Gln1388His)
c.3761-4214G>T (n.3761-4214G>T)
c.3615G>T (p.Gln1205His)
c.5529G>T (p.Gln1843His)
c.5253G>T (p.Gln1751His)
 gnomAD v4
9g.115046555C>GCA374631044TNCc.318-4214G>C
c.3215-4214G>C (n.3215-4214G>C)
c.3891G>C (p.Gln1297His)
c.1923G>C (p.Gln641His)
c.579G>C (p.Gln193His)
c.3938G>C
c.4980G>C (p.Gln1660His)
c.4434G>C (p.Gln1478His)
c.4307-4214G>C (n.4307-4214G>C)
n.298G>C
n.253-4214G>C
n.40-4214G>C
c.667G>C
c.4707G>C (p.Gln1569His)
c.4034-4214G>C (n.4034-4214G>C)
c.3342G>C (p.Gln1114His)
c.5256G>C (p.Gln1752His)
c.3488-4214G>C (n.3488-4214G>C)
c.4983G>C (p.Gln1661His)
c.4437G>C (p.Gln1479His)
c.4580-4214G>C (n.4580-4214G>C)
c.4164G>C (p.Gln1388His)
c.3761-4214G>C (n.3761-4214G>C)
c.3615G>C (p.Gln1205His)
c.5529G>C (p.Gln1843His)
c.5253G>C (p.Gln1751His)
 gnomAD v4
9g.115046555C>TCA466912478TNCc.318-4214G>A
c.3215-4214G>A (n.3215-4214G>A)
c.3891G>A (p.Gln1297=)
c.1923G>A (p.Gln641=)
c.579G>A (p.Gln193=)
c.3938G>A
c.4980G>A (p.Gln1660=)
c.4434G>A (p.Gln1478=)
c.4307-4214G>A (n.4307-4214G>A)
n.298G>A
n.253-4214G>A
n.40-4214G>A
c.667G>A
c.4707G>A (p.Gln1569=)
c.4034-4214G>A (n.4034-4214G>A)
c.3342G>A (p.Gln1114=)
c.5256G>A (p.Gln1752=)
c.3488-4214G>A (n.3488-4214G>A)
c.4983G>A (p.Gln1661=)
c.4437G>A (p.Gln1479=)
c.4580-4214G>A (n.4580-4214G>A)
c.4164G>A (p.Gln1388=)
c.3761-4214G>A (n.3761-4214G>A)
c.3615G>A (p.Gln1205=)
c.5529G>A (p.Gln1843=)
c.5253G>A (p.Gln1751=)
9g.115046556T>ACA374631046TNCc.318-4215A>T
c.3215-4215A>T (n.3215-4215A>T)
c.3890A>T (p.Gln1297Leu)
c.1922A>T (p.Gln641Leu)
c.578A>T (p.Gln193Leu)
c.3937A>T
c.4979A>T (p.Gln1660Leu)
c.4433A>T (p.Gln1478Leu)
c.4307-4215A>T (n.4307-4215A>T)
n.297A>T
n.253-4215A>T
n.40-4215A>T
c.666A>T
c.4706A>T (p.Gln1569Leu)
c.4034-4215A>T (n.4034-4215A>T)
c.3341A>T (p.Gln1114Leu)
c.5255A>T (p.Gln1752Leu)
c.3488-4215A>T (n.3488-4215A>T)
c.4982A>T (p.Gln1661Leu)
c.4436A>T (p.Gln1479Leu)
c.4580-4215A>T (n.4580-4215A>T)
c.4163A>T (p.Gln1388Leu)
c.3761-4215A>T (n.3761-4215A>T)
c.3614A>T (p.Gln1205Leu)
c.5528A>T (p.Gln1843Leu)
c.5252A>T (p.Gln1751Leu)
9g.115046556T>CCA374631048TNCc.318-4215A>G
c.3215-4215A>G (n.3215-4215A>G)
c.3890A>G (p.Gln1297Arg)
c.1922A>G (p.Gln641Arg)
c.578A>G (p.Gln193Arg)
c.3937A>G
c.4979A>G (p.Gln1660Arg)
c.4433A>G (p.Gln1478Arg)
c.4307-4215A>G (n.4307-4215A>G)
n.297A>G
n.253-4215A>G
n.40-4215A>G
c.666A>G
c.4706A>G (p.Gln1569Arg)
c.4034-4215A>G (n.4034-4215A>G)
c.3341A>G (p.Gln1114Arg)
c.5255A>G (p.Gln1752Arg)
c.3488-4215A>G (n.3488-4215A>G)
c.4982A>G (p.Gln1661Arg)
c.4436A>G (p.Gln1479Arg)
c.4580-4215A>G (n.4580-4215A>G)
c.4163A>G (p.Gln1388Arg)
c.3761-4215A>G (n.3761-4215A>G)
c.3614A>G (p.Gln1205Arg)
c.5528A>G (p.Gln1843Arg)
c.5252A>G (p.Gln1751Arg)
9g.115046556T>GCA374631049TNCc.318-4215A>C
c.3215-4215A>C (n.3215-4215A>C)
c.3890A>C (p.Gln1297Pro)
c.1922A>C (p.Gln641Pro)
c.578A>C (p.Gln193Pro)
c.3937A>C
c.4979A>C (p.Gln1660Pro)
c.4433A>C (p.Gln1478Pro)
c.4307-4215A>C (n.4307-4215A>C)
n.297A>C
n.253-4215A>C
n.40-4215A>C
c.666A>C
c.4706A>C (p.Gln1569Pro)
c.4034-4215A>C (n.4034-4215A>C)
c.3341A>C (p.Gln1114Pro)
c.5255A>C (p.Gln1752Pro)
c.3488-4215A>C (n.3488-4215A>C)
c.4982A>C (p.Gln1661Pro)
c.4436A>C (p.Gln1479Pro)
c.4580-4215A>C (n.4580-4215A>C)
c.4163A>C (p.Gln1388Pro)
c.3761-4215A>C (n.3761-4215A>C)
c.3614A>C (p.Gln1205Pro)
c.5528A>C (p.Gln1843Pro)
c.5252A>C (p.Gln1751Pro)
9g.115046557G>ACA374631051TNCc.318-4216C>T
c.3215-4216C>T (n.3215-4216C>T)
c.3889C>T (p.Gln1297Ter)
c.1921C>T (p.Gln641Ter)
c.577C>T (p.Gln193Ter)
c.3936C>T
c.4978C>T (p.Gln1660Ter)
c.4432C>T (p.Gln1478Ter)
c.4307-4216C>T (n.4307-4216C>T)
n.296C>T
n.253-4216C>T
n.40-4216C>T
c.665C>T
c.4705C>T (p.Gln1569Ter)
c.4034-4216C>T (n.4034-4216C>T)
c.3340C>T (p.Gln1114Ter)
c.5254C>T (p.Gln1752Ter)
c.3488-4216C>T (n.3488-4216C>T)
c.4981C>T (p.Gln1661Ter)
c.4435C>T (p.Gln1479Ter)
c.4580-4216C>T (n.4580-4216C>T)
c.4162C>T (p.Gln1388Ter)
c.3761-4216C>T (n.3761-4216C>T)
c.3613C>T (p.Gln1205Ter)
c.5527C>T (p.Gln1843Ter)
c.5251C>T (p.Gln1751Ter)
9g.115046557G>CCA374631053TNCc.318-4216C>G
c.3215-4216C>G (n.3215-4216C>G)
c.3889C>G (p.Gln1297Glu)
c.1921C>G (p.Gln641Glu)
c.577C>G (p.Gln193Glu)
c.3936C>G
c.4978C>G (p.Gln1660Glu)
c.4432C>G (p.Gln1478Glu)
c.4307-4216C>G (n.4307-4216C>G)
n.296C>G
n.253-4216C>G
n.40-4216C>G
c.665C>G
c.4705C>G (p.Gln1569Glu)
c.4034-4216C>G (n.4034-4216C>G)
c.3340C>G (p.Gln1114Glu)
c.5254C>G (p.Gln1752Glu)
c.3488-4216C>G (n.3488-4216C>G)
c.4981C>G (p.Gln1661Glu)
c.4435C>G (p.Gln1479Glu)
c.4580-4216C>G (n.4580-4216C>G)
c.4162C>G (p.Gln1388Glu)
c.3761-4216C>G (n.3761-4216C>G)
c.3613C>G (p.Gln1205Glu)
c.5527C>G (p.Gln1843Glu)
c.5251C>G (p.Gln1751Glu)
9g.115046557G>TCA374631054TNCc.318-4216C>A
c.3215-4216C>A (n.3215-4216C>A)
c.3889C>A (p.Gln1297Lys)
c.1921C>A (p.Gln641Lys)
c.577C>A (p.Gln193Lys)
c.3936C>A
c.4978C>A (p.Gln1660Lys)
c.4432C>A (p.Gln1478Lys)
c.4307-4216C>A (n.4307-4216C>A)
n.296C>A
n.253-4216C>A
n.40-4216C>A
c.665C>A
c.4705C>A (p.Gln1569Lys)
c.4034-4216C>A (n.4034-4216C>A)
c.3340C>A (p.Gln1114Lys)
c.5254C>A (p.Gln1752Lys)
c.3488-4216C>A (n.3488-4216C>A)
c.4981C>A (p.Gln1661Lys)
c.4435C>A (p.Gln1479Lys)
c.4580-4216C>A (n.4580-4216C>A)
c.4162C>A (p.Gln1388Lys)
c.3761-4216C>A (n.3761-4216C>A)
c.3613C>A (p.Gln1205Lys)
c.5527C>A (p.Gln1843Lys)
c.5251C>A (p.Gln1751Lys)
9g.115046558C>ACA198692626TNCc.318-4217G>T
c.3215-4217G>T (n.3215-4217G>T)
c.3888G>T (p.Lys1296Asn)
c.1920G>T (p.Lys640Asn)
c.576G>T (p.Lys192Asn)
c.3935G>T
c.4977G>T (p.Lys1659Asn)
c.4431G>T (p.Lys1477Asn)
c.4307-4217G>T (n.4307-4217G>T)
n.295G>T
n.253-4217G>T
n.40-4217G>T
c.664G>T
c.4704G>T (p.Lys1568Asn)
c.4034-4217G>T (n.4034-4217G>T)
c.3339G>T (p.Lys1113Asn)
c.5253G>T (p.Lys1751Asn)
c.3488-4217G>T (n.3488-4217G>T)
c.4980G>T (p.Lys1660Asn)
c.4434G>T (p.Lys1478Asn)
c.4580-4217G>T (n.4580-4217G>T)
c.4161G>T (p.Lys1387Asn)
c.3761-4217G>T (n.3761-4217G>T)
c.3612G>T (p.Lys1204Asn)
c.5526G>T (p.Lys1842Asn)
c.5250G>T (p.Lys1750Asn)
 dbSNP gnomAD v4
9g.115046558C=CA1874118909TNCc.318-4217G=
c.3215-4217G= (n.3215-4217G=)
c.3888G= (p.Lys1296=)
c.1920G= (p.Lys640=)
c.576G= (p.Lys192=)
c.3935G=
c.4977G= (p.Lys1659=)
c.4431G= (p.Lys1477=)
c.4307-4217G= (n.4307-4217G=)
n.295G=
n.253-4217G=
n.40-4217G=
c.664G=
c.4704G= (p.Lys1568=)
c.4034-4217G= (n.4034-4217G=)
c.3339G= (p.Lys1113=)
c.5253G= (p.Lys1751=)
c.3488-4217G= (n.3488-4217G=)
c.4980G= (p.Lys1660=)
c.4434G= (p.Lys1478=)
c.4580-4217G= (n.4580-4217G=)
c.4161G= (p.Lys1387=)
c.3761-4217G= (n.3761-4217G=)
c.3612G= (p.Lys1204=)
c.5526G= (p.Lys1842=)
c.5250G= (p.Lys1750=)
9g.115046558C>GCA374631057TNCc.318-4217G>C
c.3215-4217G>C (n.3215-4217G>C)
c.3888G>C (p.Lys1296Asn)
c.1920G>C (p.Lys640Asn)
c.576G>C (p.Lys192Asn)
c.3935G>C
c.4977G>C (p.Lys1659Asn)
c.4431G>C (p.Lys1477Asn)
c.4307-4217G>C (n.4307-4217G>C)
n.295G>C
n.253-4217G>C
n.40-4217G>C
c.664G>C
c.4704G>C (p.Lys1568Asn)
c.4034-4217G>C (n.4034-4217G>C)
c.3339G>C (p.Lys1113Asn)
c.5253G>C (p.Lys1751Asn)
c.3488-4217G>C (n.3488-4217G>C)
c.4980G>C (p.Lys1660Asn)
c.4434G>C (p.Lys1478Asn)
c.4580-4217G>C (n.4580-4217G>C)
c.4161G>C (p.Lys1387Asn)
c.3761-4217G>C (n.3761-4217G>C)
c.3612G>C (p.Lys1204Asn)
c.5526G>C (p.Lys1842Asn)
c.5250G>C (p.Lys1750Asn)
9g.115046558C>TCA466912480TNCc.318-4217G>A
c.3215-4217G>A (n.3215-4217G>A)
c.3888G>A (p.Lys1296=)
c.1920G>A (p.Lys640=)
c.576G>A (p.Lys192=)
c.3935G>A
c.4977G>A (p.Lys1659=)
c.4431G>A (p.Lys1477=)
c.4307-4217G>A (n.4307-4217G>A)
n.295G>A
n.253-4217G>A
n.40-4217G>A
c.664G>A
c.4704G>A (p.Lys1568=)
c.4034-4217G>A (n.4034-4217G>A)
c.3339G>A (p.Lys1113=)
c.5253G>A (p.Lys1751=)
c.3488-4217G>A (n.3488-4217G>A)
c.4980G>A (p.Lys1660=)
c.4434G>A (p.Lys1478=)
c.4580-4217G>A (n.4580-4217G>A)
c.4161G>A (p.Lys1387=)
c.3761-4217G>A (n.3761-4217G>A)
c.3612G>A (p.Lys1204=)
c.5526G>A (p.Lys1842=)
c.5250G>A (p.Lys1750=)
 gnomAD v4
9g.115046559T>ACA374631060TNCc.318-4218A>T
c.3215-4218A>T (n.3215-4218A>T)
c.3887A>T (p.Lys1296Met)
c.1919A>T (p.Lys640Met)
c.575A>T (p.Lys192Met)
c.3934A>T
c.4976A>T (p.Lys1659Met)
c.4430A>T (p.Lys1477Met)
c.4307-4218A>T (n.4307-4218A>T)
n.294A>T
n.253-4218A>T
n.40-4218A>T
c.663A>T
c.4703A>T (p.Lys1568Met)
c.4034-4218A>T (n.4034-4218A>T)
c.3338A>T (p.Lys1113Met)
c.5252A>T (p.Lys1751Met)
c.3488-4218A>T (n.3488-4218A>T)
c.4979A>T (p.Lys1660Met)
c.4433A>T (p.Lys1478Met)
c.4580-4218A>T (n.4580-4218A>T)
c.4160A>T (p.Lys1387Met)
c.3761-4218A>T (n.3761-4218A>T)
c.3611A>T (p.Lys1204Met)
c.5525A>T (p.Lys1842Met)
c.5249A>T (p.Lys1750Met)
9g.115046559T>CCA374631062TNCc.318-4218A>G
c.3215-4218A>G (n.3215-4218A>G)
c.3887A>G (p.Lys1296Arg)
c.1919A>G (p.Lys640Arg)
c.575A>G (p.Lys192Arg)
c.3934A>G
c.4976A>G (p.Lys1659Arg)
c.4430A>G (p.Lys1477Arg)
c.4307-4218A>G (n.4307-4218A>G)
n.294A>G
n.253-4218A>G
n.40-4218A>G
c.663A>G
c.4703A>G (p.Lys1568Arg)
c.4034-4218A>G (n.4034-4218A>G)
c.3338A>G (p.Lys1113Arg)
c.5252A>G (p.Lys1751Arg)
c.3488-4218A>G (n.3488-4218A>G)
c.4979A>G (p.Lys1660Arg)
c.4433A>G (p.Lys1478Arg)
c.4580-4218A>G (n.4580-4218A>G)
c.4160A>G (p.Lys1387Arg)
c.3761-4218A>G (n.3761-4218A>G)
c.3611A>G (p.Lys1204Arg)
c.5525A>G (p.Lys1842Arg)
c.5249A>G (p.Lys1750Arg)
9g.115046559T>GCA374631058TNCc.318-4218A>C
c.3215-4218A>C (n.3215-4218A>C)
c.3887A>C (p.Lys1296Thr)
c.1919A>C (p.Lys640Thr)
c.575A>C (p.Lys192Thr)
c.3934A>C
c.4976A>C (p.Lys1659Thr)
c.4430A>C (p.Lys1477Thr)
c.4307-4218A>C (n.4307-4218A>C)
n.294A>C
n.253-4218A>C
n.40-4218A>C
c.663A>C
c.4703A>C (p.Lys1568Thr)
c.4034-4218A>C (n.4034-4218A>C)
c.3338A>C (p.Lys1113Thr)
c.5252A>C (p.Lys1751Thr)
c.3488-4218A>C (n.3488-4218A>C)
c.4979A>C (p.Lys1660Thr)
c.4433A>C (p.Lys1478Thr)
c.4580-4218A>C (n.4580-4218A>C)
c.4160A>C (p.Lys1387Thr)
c.3761-4218A>C (n.3761-4218A>C)
c.3611A>C (p.Lys1204Thr)
c.5525A>C (p.Lys1842Thr)
c.5249A>C (p.Lys1750Thr)
9g.115046560T>ACA374631064TNCc.318-4219A>T
c.3215-4219A>T (n.3215-4219A>T)
c.3886A>T (p.Lys1296Ter)
c.1918A>T (p.Lys640Ter)
c.574A>T (p.Lys192Ter)
c.3933A>T
c.4975A>T (p.Lys1659Ter)
c.4429A>T (p.Lys1477Ter)
c.4307-4219A>T (n.4307-4219A>T)
n.293A>T
n.253-4219A>T
n.40-4219A>T
c.662A>T
c.4702A>T (p.Lys1568Ter)
c.4034-4219A>T (n.4034-4219A>T)
c.3337A>T (p.Lys1113Ter)
c.5251A>T (p.Lys1751Ter)
c.3488-4219A>T (n.3488-4219A>T)
c.4978A>T (p.Lys1660Ter)
c.4432A>T (p.Lys1478Ter)
c.4580-4219A>T (n.4580-4219A>T)
c.4159A>T (p.Lys1387Ter)
c.3761-4219A>T (n.3761-4219A>T)
c.3610A>T (p.Lys1204Ter)
c.5524A>T (p.Lys1842Ter)
c.5248A>T (p.Lys1750Ter)
9g.115046560T>CCA374631065TNCc.318-4219A>G
c.3215-4219A>G (n.3215-4219A>G)
c.3886A>G (p.Lys1296Glu)
c.1918A>G (p.Lys640Glu)
c.574A>G (p.Lys192Glu)
c.3933A>G
c.4975A>G (p.Lys1659Glu)
c.4429A>G (p.Lys1477Glu)
c.4307-4219A>G (n.4307-4219A>G)
n.293A>G
n.253-4219A>G
n.40-4219A>G
c.662A>G
c.4702A>G (p.Lys1568Glu)
c.4034-4219A>G (n.4034-4219A>G)
c.3337A>G (p.Lys1113Glu)
c.5251A>G (p.Lys1751Glu)
c.3488-4219A>G (n.3488-4219A>G)
c.4978A>G (p.Lys1660Glu)
c.4432A>G (p.Lys1478Glu)
c.4580-4219A>G (n.4580-4219A>G)
c.4159A>G (p.Lys1387Glu)
c.3761-4219A>G (n.3761-4219A>G)
c.3610A>G (p.Lys1204Glu)
c.5524A>G (p.Lys1842Glu)
c.5248A>G (p.Lys1750Glu)
9g.115046560T>GCA374631067TNCc.318-4219A>C
c.3215-4219A>C (n.3215-4219A>C)
c.3886A>C (p.Lys1296Gln)
c.1918A>C (p.Lys640Gln)
c.574A>C (p.Lys192Gln)
c.3933A>C
c.4975A>C (p.Lys1659Gln)
c.4429A>C (p.Lys1477Gln)
c.4307-4219A>C (n.4307-4219A>C)
n.293A>C
n.253-4219A>C
n.40-4219A>C
c.662A>C
c.4702A>C (p.Lys1568Gln)
c.4034-4219A>C (n.4034-4219A>C)
c.3337A>C (p.Lys1113Gln)
c.5251A>C (p.Lys1751Gln)
c.3488-4219A>C (n.3488-4219A>C)
c.4978A>C (p.Lys1660Gln)
c.4432A>C (p.Lys1478Gln)
c.4580-4219A>C (n.4580-4219A>C)
c.4159A>C (p.Lys1387Gln)
c.3761-4219A>C (n.3761-4219A>C)
c.3610A>C (p.Lys1204Gln)
c.5524A>C (p.Lys1842Gln)
c.5248A>C (p.Lys1750Gln)
9g.115046561T>ACA374631069TNCc.318-4220A>T
c.3215-4220A>T (n.3215-4220A>T)
c.3885A>T (p.Lys1295Asn)
c.1917A>T (p.Lys639Asn)
c.573A>T (p.Lys191Asn)
c.3932A>T
c.4974A>T (p.Lys1658Asn)
c.4428A>T (p.Lys1476Asn)
c.4307-4220A>T (n.4307-4220A>T)
n.292A>T
n.253-4220A>T
n.40-4220A>T
c.661A>T
c.4701A>T (p.Lys1567Asn)
c.4034-4220A>T (n.4034-4220A>T)
c.3336A>T (p.Lys1112Asn)
c.5250A>T (p.Lys1750Asn)
c.3488-4220A>T (n.3488-4220A>T)
c.4977A>T (p.Lys1659Asn)
c.4431A>T (p.Lys1477Asn)
c.4580-4220A>T (n.4580-4220A>T)
c.4158A>T (p.Lys1386Asn)
c.3761-4220A>T (n.3761-4220A>T)
c.3609A>T (p.Lys1203Asn)
c.5523A>T (p.Lys1841Asn)
c.5247A>T (p.Lys1749Asn)
9g.115046561T>CCA466912481TNCc.318-4220A>G
c.3215-4220A>G (n.3215-4220A>G)
c.3885A>G (p.Lys1295=)
c.1917A>G (p.Lys639=)
c.573A>G (p.Lys191=)
c.3932A>G
c.4974A>G (p.Lys1658=)
c.4428A>G (p.Lys1476=)
c.4307-4220A>G (n.4307-4220A>G)
n.292A>G
n.253-4220A>G
n.40-4220A>G
c.661A>G
c.4701A>G (p.Lys1567=)
c.4034-4220A>G (n.4034-4220A>G)
c.3336A>G (p.Lys1112=)
c.5250A>G (p.Lys1750=)
c.3488-4220A>G (n.3488-4220A>G)
c.4977A>G (p.Lys1659=)
c.4431A>G (p.Lys1477=)
c.4580-4220A>G (n.4580-4220A>G)
c.4158A>G (p.Lys1386=)
c.3761-4220A>G (n.3761-4220A>G)
c.3609A>G (p.Lys1203=)
c.5523A>G (p.Lys1841=)
c.5247A>G (p.Lys1749=)
9g.115046561T>GCA374631071TNCc.318-4220A>C
c.3215-4220A>C (n.3215-4220A>C)
c.3885A>C (p.Lys1295Asn)
c.1917A>C (p.Lys639Asn)
c.573A>C (p.Lys191Asn)
c.3932A>C
c.4974A>C (p.Lys1658Asn)
c.4428A>C (p.Lys1476Asn)
c.4307-4220A>C (n.4307-4220A>C)
n.292A>C
n.253-4220A>C
n.40-4220A>C
c.661A>C
c.4701A>C (p.Lys1567Asn)
c.4034-4220A>C (n.4034-4220A>C)
c.3336A>C (p.Lys1112Asn)
c.5250A>C (p.Lys1750Asn)
c.3488-4220A>C (n.3488-4220A>C)
c.4977A>C (p.Lys1659Asn)
c.4431A>C (p.Lys1477Asn)
c.4580-4220A>C (n.4580-4220A>C)
c.4158A>C (p.Lys1386Asn)
c.3761-4220A>C (n.3761-4220A>C)
c.3609A>C (p.Lys1203Asn)
c.5523A>C (p.Lys1841Asn)
c.5247A>C (p.Lys1749Asn)
9g.115046562T>ACA374631072TNCc.318-4221A>T
c.3215-4221A>T (n.3215-4221A>T)
c.3884A>T (p.Lys1295Ile)
c.1916A>T (p.Lys639Ile)
c.572A>T (p.Lys191Ile)
c.3931A>T
c.4973A>T (p.Lys1658Ile)
c.4427A>T (p.Lys1476Ile)
c.4307-4221A>T (n.4307-4221A>T)
n.291A>T
n.253-4221A>T
n.40-4221A>T
c.660A>T
c.4700A>T (p.Lys1567Ile)
c.4034-4221A>T (n.4034-4221A>T)
c.3335A>T (p.Lys1112Ile)
c.5249A>T (p.Lys1750Ile)
c.3488-4221A>T (n.3488-4221A>T)
c.4976A>T (p.Lys1659Ile)
c.4430A>T (p.Lys1477Ile)
c.4580-4221A>T (n.4580-4221A>T)
c.4157A>T (p.Lys1386Ile)
c.3761-4221A>T (n.3761-4221A>T)
c.3608A>T (p.Lys1203Ile)
c.5522A>T (p.Lys1841Ile)
c.5246A>T (p.Lys1749Ile)
9g.115046562T>CCA374631074TNCc.318-4221A>G
c.3215-4221A>G (n.3215-4221A>G)
c.3884A>G (p.Lys1295Arg)
c.1916A>G (p.Lys639Arg)
c.572A>G (p.Lys191Arg)
c.3931A>G
c.4973A>G (p.Lys1658Arg)
c.4427A>G (p.Lys1476Arg)
c.4307-4221A>G (n.4307-4221A>G)
n.291A>G
n.253-4221A>G
n.40-4221A>G
c.660A>G
c.4700A>G (p.Lys1567Arg)
c.4034-4221A>G (n.4034-4221A>G)
c.3335A>G (p.Lys1112Arg)
c.5249A>G (p.Lys1750Arg)
c.3488-4221A>G (n.3488-4221A>G)
c.4976A>G (p.Lys1659Arg)
c.4430A>G (p.Lys1477Arg)
c.4580-4221A>G (n.4580-4221A>G)
c.4157A>G (p.Lys1386Arg)
c.3761-4221A>G (n.3761-4221A>G)
c.3608A>G (p.Lys1203Arg)
c.5522A>G (p.Lys1841Arg)
c.5246A>G (p.Lys1749Arg)
9g.115046562T>GCA374631076TNCc.318-4221A>C
c.3215-4221A>C (n.3215-4221A>C)
c.3884A>C (p.Lys1295Thr)
c.1916A>C (p.Lys639Thr)
c.572A>C (p.Lys191Thr)
c.3931A>C
c.4973A>C (p.Lys1658Thr)
c.4427A>C (p.Lys1476Thr)
c.4307-4221A>C (n.4307-4221A>C)
n.291A>C
n.253-4221A>C
n.40-4221A>C
c.660A>C
c.4700A>C (p.Lys1567Thr)
c.4034-4221A>C (n.4034-4221A>C)
c.3335A>C (p.Lys1112Thr)
c.5249A>C (p.Lys1750Thr)
c.3488-4221A>C (n.3488-4221A>C)
c.4976A>C (p.Lys1659Thr)
c.4430A>C (p.Lys1477Thr)
c.4580-4221A>C (n.4580-4221A>C)
c.4157A>C (p.Lys1386Thr)
c.3761-4221A>C (n.3761-4221A>C)
c.3608A>C (p.Lys1203Thr)
c.5522A>C (p.Lys1841Thr)
c.5246A>C (p.Lys1749Thr)
9g.115046563T>ACA374631078TNCc.318-4222A>T
c.3215-4222A>T (n.3215-4222A>T)
c.3883A>T (p.Lys1295Ter)
c.1915A>T (p.Lys639Ter)
c.571A>T (p.Lys191Ter)
c.3930A>T
c.4972A>T (p.Lys1658Ter)
c.4426A>T (p.Lys1476Ter)
c.4307-4222A>T (n.4307-4222A>T)
n.290A>T
n.253-4222A>T
n.40-4222A>T
c.659A>T
c.4699A>T (p.Lys1567Ter)
c.4034-4222A>T (n.4034-4222A>T)
c.3334A>T (p.Lys1112Ter)
c.5248A>T (p.Lys1750Ter)
c.3488-4222A>T (n.3488-4222A>T)
c.4975A>T (p.Lys1659Ter)
c.4429A>T (p.Lys1477Ter)
c.4580-4222A>T (n.4580-4222A>T)
c.4156A>T (p.Lys1386Ter)
c.3761-4222A>T (n.3761-4222A>T)
c.3607A>T (p.Lys1203Ter)
c.5521A>T (p.Lys1841Ter)
c.5245A>T (p.Lys1749Ter)
9g.115046563T>CCA374631079TNCc.318-4222A>G
c.3215-4222A>G (n.3215-4222A>G)
c.3883A>G (p.Lys1295Glu)
c.1915A>G (p.Lys639Glu)
c.571A>G (p.Lys191Glu)
c.3930A>G
c.4972A>G (p.Lys1658Glu)
c.4426A>G (p.Lys1476Glu)
c.4307-4222A>G (n.4307-4222A>G)
n.290A>G
n.253-4222A>G
n.40-4222A>G
c.659A>G
c.4699A>G (p.Lys1567Glu)
c.4034-4222A>G (n.4034-4222A>G)
c.3334A>G (p.Lys1112Glu)
c.5248A>G (p.Lys1750Glu)
c.3488-4222A>G (n.3488-4222A>G)
c.4975A>G (p.Lys1659Glu)
c.4429A>G (p.Lys1477Glu)
c.4580-4222A>G (n.4580-4222A>G)
c.4156A>G (p.Lys1386Glu)
c.3761-4222A>G (n.3761-4222A>G)
c.3607A>G (p.Lys1203Glu)
c.5521A>G (p.Lys1841Glu)
c.5245A>G (p.Lys1749Glu)
9g.115046563T>GCA374631081TNCc.318-4222A>C
c.3215-4222A>C (n.3215-4222A>C)
c.3883A>C (p.Lys1295Gln)
c.1915A>C (p.Lys639Gln)
c.571A>C (p.Lys191Gln)
c.3930A>C
c.4972A>C (p.Lys1658Gln)
c.4426A>C (p.Lys1476Gln)
c.4307-4222A>C (n.4307-4222A>C)
n.290A>C
n.253-4222A>C
n.40-4222A>C
c.659A>C
c.4699A>C (p.Lys1567Gln)
c.4034-4222A>C (n.4034-4222A>C)
c.3334A>C (p.Lys1112Gln)
c.5248A>C (p.Lys1750Gln)
c.3488-4222A>C (n.3488-4222A>C)
c.4975A>C (p.Lys1659Gln)
c.4429A>C (p.Lys1477Gln)
c.4580-4222A>C (n.4580-4222A>C)
c.4156A>C (p.Lys1386Gln)
c.3761-4222A>C (n.3761-4222A>C)
c.3607A>C (p.Lys1203Gln)
c.5521A>C (p.Lys1841Gln)
c.5245A>C (p.Lys1749Gln)
9g.115046564G>ACA466912482TNCc.318-4223C>T
c.3215-4223C>T (n.3215-4223C>T)
c.3882C>T (p.Thr1294=)
c.1914C>T (p.Thr638=)
c.570C>T (p.Thr190=)
c.3929C>T
c.4971C>T (p.Thr1657=)
c.4425C>T (p.Thr1475=)
c.4307-4223C>T (n.4307-4223C>T)
n.289C>T
n.253-4223C>T
n.40-4223C>T
c.658C>T
c.4698C>T (p.Thr1566=)
c.4034-4223C>T (n.4034-4223C>T)
c.3333C>T (p.Thr1111=)
c.5247C>T (p.Thr1749=)
c.3488-4223C>T (n.3488-4223C>T)
c.4974C>T (p.Thr1658=)
c.4428C>T (p.Thr1476=)
c.4580-4223C>T (n.4580-4223C>T)
c.4155C>T (p.Thr1385=)
c.3761-4223C>T (n.3761-4223C>T)
c.3606C>T (p.Thr1202=)
c.5520C>T (p.Thr1840=)
c.5244C>T (p.Thr1748=)
 gnomAD v3 gnomAD v4
9g.115046564G>CCA198692634TNCc.318-4223C>G
c.3215-4223C>G (n.3215-4223C>G)
c.3882C>G (p.Thr1294=)
c.1914C>G (p.Thr638=)
c.570C>G (p.Thr190=)
c.3929C>G
c.4971C>G (p.Thr1657=)
c.4425C>G (p.Thr1475=)
c.4307-4223C>G (n.4307-4223C>G)
n.289C>G
n.253-4223C>G
n.40-4223C>G
c.658C>G
c.4698C>G (p.Thr1566=)
c.4034-4223C>G (n.4034-4223C>G)
c.3333C>G (p.Thr1111=)
c.5247C>G (p.Thr1749=)
c.3488-4223C>G (n.3488-4223C>G)
c.4974C>G (p.Thr1658=)
c.4428C>G (p.Thr1476=)
c.4580-4223C>G (n.4580-4223C>G)
c.4155C>G (p.Thr1385=)
c.3761-4223C>G (n.3761-4223C>G)
c.3606C>G (p.Thr1202=)
c.5520C>G (p.Thr1840=)
c.5244C>G (p.Thr1748=)
 dbSNP
9g.115046564G=CA1874118910TNCc.318-4223C=
c.3215-4223C= (n.3215-4223C=)
c.3882C= (p.Thr1294=)
c.1914C= (p.Thr638=)
c.570C= (p.Thr190=)
c.3929C=
c.4971C= (p.Thr1657=)
c.4425C= (p.Thr1475=)
c.4307-4223C= (n.4307-4223C=)
n.289C=
n.253-4223C=
n.40-4223C=
c.658C=
c.4698C= (p.Thr1566=)
c.4034-4223C= (n.4034-4223C=)
c.3333C= (p.Thr1111=)
c.5247C= (p.Thr1749=)
c.3488-4223C= (n.3488-4223C=)
c.4974C= (p.Thr1658=)
c.4428C= (p.Thr1476=)
c.4580-4223C= (n.4580-4223C=)
c.4155C= (p.Thr1385=)
c.3761-4223C= (n.3761-4223C=)
c.3606C= (p.Thr1202=)
c.5520C= (p.Thr1840=)
c.5244C= (p.Thr1748=)
9g.115046564G>TCA5207776TNCc.318-4223C>A
c.3215-4223C>A (n.3215-4223C>A)
c.3882C>A (p.Thr1294=)
c.1914C>A (p.Thr638=)
c.570C>A (p.Thr190=)
c.3929C>A
c.4971C>A (p.Thr1657=)
c.4425C>A (p.Thr1475=)
c.4307-4223C>A (n.4307-4223C>A)
n.289C>A
n.253-4223C>A
n.40-4223C>A
c.658C>A
c.4698C>A (p.Thr1566=)
c.4034-4223C>A (n.4034-4223C>A)
c.3333C>A (p.Thr1111=)
c.5247C>A (p.Thr1749=)
c.3488-4223C>A (n.3488-4223C>A)
c.4974C>A (p.Thr1658=)
c.4428C>A (p.Thr1476=)
c.4580-4223C>A (n.4580-4223C>A)
c.4155C>A (p.Thr1385=)
c.3761-4223C>A (n.3761-4223C>A)
c.3606C>A (p.Thr1202=)
c.5520C>A (p.Thr1840=)
c.5244C>A (p.Thr1748=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046565G>ACA5207777TNCc.318-4224C>T
c.3215-4224C>T (n.3215-4224C>T)
c.3881C>T (p.Thr1294Ile)
c.1913C>T (p.Thr638Ile)
c.569C>T (p.Thr190Ile)
c.3928C>T
c.4970C>T (p.Thr1657Ile)
c.4424C>T (p.Thr1475Ile)
c.4307-4224C>T (n.4307-4224C>T)
n.288C>T
n.253-4224C>T
n.40-4224C>T
c.657C>T
c.4697C>T (p.Thr1566Ile)
c.4034-4224C>T (n.4034-4224C>T)
c.3332C>T (p.Thr1111Ile)
c.5246C>T (p.Thr1749Ile)
c.3488-4224C>T (n.3488-4224C>T)
c.4973C>T (p.Thr1658Ile)
c.4427C>T (p.Thr1476Ile)
c.4580-4224C>T (n.4580-4224C>T)
c.4154C>T (p.Thr1385Ile)
c.3761-4224C>T (n.3761-4224C>T)
c.3605C>T (p.Thr1202Ile)
c.5519C>T (p.Thr1840Ile)
c.5243C>T (p.Thr1748Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046565G>CCA374631084TNCc.318-4224C>G
c.3215-4224C>G (n.3215-4224C>G)
c.3881C>G (p.Thr1294Ser)
c.1913C>G (p.Thr638Ser)
c.569C>G (p.Thr190Ser)
c.3928C>G
c.4970C>G (p.Thr1657Ser)
c.4424C>G (p.Thr1475Ser)
c.4307-4224C>G (n.4307-4224C>G)
n.288C>G
n.253-4224C>G
n.40-4224C>G
c.657C>G
c.4697C>G (p.Thr1566Ser)
c.4034-4224C>G (n.4034-4224C>G)
c.3332C>G (p.Thr1111Ser)
c.5246C>G (p.Thr1749Ser)
c.3488-4224C>G (n.3488-4224C>G)
c.4973C>G (p.Thr1658Ser)
c.4427C>G (p.Thr1476Ser)
c.4580-4224C>G (n.4580-4224C>G)
c.4154C>G (p.Thr1385Ser)
c.3761-4224C>G (n.3761-4224C>G)
c.3605C>G (p.Thr1202Ser)
c.5519C>G (p.Thr1840Ser)
c.5243C>G (p.Thr1748Ser)
 gnomAD v4
9g.115046565G=CA1874118911TNCc.318-4224C=
c.3215-4224C= (n.3215-4224C=)
c.3881C= (p.Thr1294=)
c.1913C= (p.Thr638=)
c.569C= (p.Thr190=)
c.3928C=
c.4970C= (p.Thr1657=)
c.4424C= (p.Thr1475=)
c.4307-4224C= (n.4307-4224C=)
n.288C=
n.253-4224C=
n.40-4224C=
c.657C=
c.4697C= (p.Thr1566=)
c.4034-4224C= (n.4034-4224C=)
c.3332C= (p.Thr1111=)
c.5246C= (p.Thr1749=)
c.3488-4224C= (n.3488-4224C=)
c.4973C= (p.Thr1658=)
c.4427C= (p.Thr1476=)
c.4580-4224C= (n.4580-4224C=)
c.4154C= (p.Thr1385=)
c.3761-4224C= (n.3761-4224C=)
c.3605C= (p.Thr1202=)
c.5519C= (p.Thr1840=)
c.5243C= (p.Thr1748=)
9g.115046565G>TCA198692666TNCc.318-4224C>A
c.3215-4224C>A (n.3215-4224C>A)
c.3881C>A (p.Thr1294Asn)
c.1913C>A (p.Thr638Asn)
c.569C>A (p.Thr190Asn)
c.3928C>A
c.4970C>A (p.Thr1657Asn)
c.4424C>A (p.Thr1475Asn)
c.4307-4224C>A (n.4307-4224C>A)
n.288C>A
n.253-4224C>A
n.40-4224C>A
c.657C>A
c.4697C>A (p.Thr1566Asn)
c.4034-4224C>A (n.4034-4224C>A)
c.3332C>A (p.Thr1111Asn)
c.5246C>A (p.Thr1749Asn)
c.3488-4224C>A (n.3488-4224C>A)
c.4973C>A (p.Thr1658Asn)
c.4427C>A (p.Thr1476Asn)
c.4580-4224C>A (n.4580-4224C>A)
c.4154C>A (p.Thr1385Asn)
c.3761-4224C>A (n.3761-4224C>A)
c.3605C>A (p.Thr1202Asn)
c.5519C>A (p.Thr1840Asn)
c.5243C>A (p.Thr1748Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046566T>ACA374631085TNCc.318-4225A>T
c.3215-4225A>T (n.3215-4225A>T)
c.3880A>T (p.Thr1294Ser)
c.1912A>T (p.Thr638Ser)
c.568A>T (p.Thr190Ser)
c.3927A>T
c.4969A>T (p.Thr1657Ser)
c.4423A>T (p.Thr1475Ser)
c.4307-4225A>T (n.4307-4225A>T)
n.287A>T
n.253-4225A>T
n.40-4225A>T
c.656A>T
c.4696A>T (p.Thr1566Ser)
c.4034-4225A>T (n.4034-4225A>T)
c.3331A>T (p.Thr1111Ser)
c.5245A>T (p.Thr1749Ser)
c.3488-4225A>T (n.3488-4225A>T)
c.4972A>T (p.Thr1658Ser)
c.4426A>T (p.Thr1476Ser)
c.4580-4225A>T (n.4580-4225A>T)
c.4153A>T (p.Thr1385Ser)
c.3761-4225A>T (n.3761-4225A>T)
c.3604A>T (p.Thr1202Ser)
c.5518A>T (p.Thr1840Ser)
c.5242A>T (p.Thr1748Ser)
9g.115046566T>CCA374631087TNCc.318-4225A>G
c.3215-4225A>G (n.3215-4225A>G)
c.3880A>G (p.Thr1294Ala)
c.1912A>G (p.Thr638Ala)
c.568A>G (p.Thr190Ala)
c.3927A>G
c.4969A>G (p.Thr1657Ala)
c.4423A>G (p.Thr1475Ala)
c.4307-4225A>G (n.4307-4225A>G)
n.287A>G
n.253-4225A>G
n.40-4225A>G
c.656A>G
c.4696A>G (p.Thr1566Ala)
c.4034-4225A>G (n.4034-4225A>G)
c.3331A>G (p.Thr1111Ala)
c.5245A>G (p.Thr1749Ala)
c.3488-4225A>G (n.3488-4225A>G)
c.4972A>G (p.Thr1658Ala)
c.4426A>G (p.Thr1476Ala)
c.4580-4225A>G (n.4580-4225A>G)
c.4153A>G (p.Thr1385Ala)
c.3761-4225A>G (n.3761-4225A>G)
c.3604A>G (p.Thr1202Ala)
c.5518A>G (p.Thr1840Ala)
c.5242A>G (p.Thr1748Ala)
9g.115046566T>GCA374631089TNCc.318-4225A>C
c.3215-4225A>C (n.3215-4225A>C)
c.3880A>C (p.Thr1294Pro)
c.1912A>C (p.Thr638Pro)
c.568A>C (p.Thr190Pro)
c.3927A>C
c.4969A>C (p.Thr1657Pro)
c.4423A>C (p.Thr1475Pro)
c.4307-4225A>C (n.4307-4225A>C)
n.287A>C
n.253-4225A>C
n.40-4225A>C
c.656A>C
c.4696A>C (p.Thr1566Pro)
c.4034-4225A>C (n.4034-4225A>C)
c.3331A>C (p.Thr1111Pro)
c.5245A>C (p.Thr1749Pro)
c.3488-4225A>C (n.3488-4225A>C)
c.4972A>C (p.Thr1658Pro)
c.4426A>C (p.Thr1476Pro)
c.4580-4225A>C (n.4580-4225A>C)
c.4153A>C (p.Thr1385Pro)
c.3761-4225A>C (n.3761-4225A>C)
c.3604A>C (p.Thr1202Pro)
c.5518A>C (p.Thr1840Pro)
c.5242A>C (p.Thr1748Pro)
9g.115046571_115046572insAGGACACTTCTATCTCCA2785673973TNCc.318-4225_318-4224insGAAGTGTCCTGAGATA
c.3215-4225_3215-4224insGAAGTGTCCTGAGATA (n.3215-4225_3215-4224insGAAGTGTCCTGAGATA)
c.3880_3881insGAAGTGTCCTGAGATA (p.Thr1294ArgfsTer11)
c.1912_1913insGAAGTGTCCTGAGATA (p.Thr638ArgfsTer11)
c.568_569insGAAGTGTCCTGAGATA (p.Thr190ArgfsTer11)
c.3927_3928insGAAGTGTCCTGAGATA
c.4969_4970insGAAGTGTCCTGAGATA (p.Thr1657ArgfsTer11)
c.4423_4424insGAAGTGTCCTGAGATA (p.Thr1475ArgfsTer11)
c.4307-4225_4307-4224insGAAGTGTCCTGAGATA (n.4307-4225_4307-4224insGAAGTGTCCTGAGATA)
n.287_288insGAAGTGTCCTGAGATA
n.253-4225_253-4224insGAAGTGTCCTGAGATA
n.40-4225_40-4224insGAAGTGTCCTGAGATA
c.656_657insGAAGTGTCCTGAGATA
c.4696_4697insGAAGTGTCCTGAGATA (p.Thr1566ArgfsTer11)
c.4034-4225_4034-4224insGAAGTGTCCTGAGATA (n.4034-4225_4034-4224insGAAGTGTCCTGAGATA)
c.3331_3332insGAAGTGTCCTGAGATA (p.Thr1111ArgfsTer11)
c.5245_5246insGAAGTGTCCTGAGATA (p.Thr1749ArgfsTer11)
c.3488-4225_3488-4224insGAAGTGTCCTGAGATA (n.3488-4225_3488-4224insGAAGTGTCCTGAGATA)
c.4972_4973insGAAGTGTCCTGAGATA (p.Thr1658ArgfsTer11)
c.4426_4427insGAAGTGTCCTGAGATA (p.Thr1476ArgfsTer11)
c.4580-4225_4580-4224insGAAGTGTCCTGAGATA (n.4580-4225_4580-4224insGAAGTGTCCTGAGATA)
c.4153_4154insGAAGTGTCCTGAGATA (p.Thr1385ArgfsTer11)
c.3761-4225_3761-4224insGAAGTGTCCTGAGATA (n.3761-4225_3761-4224insGAAGTGTCCTGAGATA)
c.3604_3605insGAAGTGTCCTGAGATA (p.Thr1202ArgfsTer11)
c.5518_5519insGAAGTGTCCTGAGATA (p.Thr1840ArgfsTer11)
c.5242_5243insGAAGTGTCCTGAGATA (p.Thr1748ArgfsTer11)
9g.115046567A=CA1874118912TNCc.318-4226T=
c.3215-4226T= (n.3215-4226T=)
c.3879T= (p.Asp1293=)
c.1911T= (p.Asp637=)
c.567T= (p.Asp189=)
c.3926T=
c.4968T= (p.Asp1656=)
c.4422T= (p.Asp1474=)
c.4307-4226T= (n.4307-4226T=)
n.286T=
n.253-4226T=
n.40-4226T=
c.655T=
c.4695T= (p.Asp1565=)
c.4034-4226T= (n.4034-4226T=)
c.3330T= (p.Asp1110=)
c.5244T= (p.Asp1748=)
c.3488-4226T= (n.3488-4226T=)
c.4971T= (p.Asp1657=)
c.4425T= (p.Asp1475=)
c.4580-4226T= (n.4580-4226T=)
c.4152T= (p.Asp1384=)
c.3761-4226T= (n.3761-4226T=)
c.3603T= (p.Asp1201=)
c.5517T= (p.Asp1839=)
c.5241T= (p.Asp1747=)
9g.115046567A>CCA374631091TNCc.318-4226T>G
c.3215-4226T>G (n.3215-4226T>G)
c.3879T>G (p.Asp1293Glu)
c.1911T>G (p.Asp637Glu)
c.567T>G (p.Asp189Glu)
c.3926T>G
c.4968T>G (p.Asp1656Glu)
c.4422T>G (p.Asp1474Glu)
c.4307-4226T>G (n.4307-4226T>G)
n.286T>G
n.253-4226T>G
n.40-4226T>G
c.655T>G
c.4695T>G (p.Asp1565Glu)
c.4034-4226T>G (n.4034-4226T>G)
c.3330T>G (p.Asp1110Glu)
c.5244T>G (p.Asp1748Glu)
c.3488-4226T>G (n.3488-4226T>G)
c.4971T>G (p.Asp1657Glu)
c.4425T>G (p.Asp1475Glu)
c.4580-4226T>G (n.4580-4226T>G)
c.4152T>G (p.Asp1384Glu)
c.3761-4226T>G (n.3761-4226T>G)
c.3603T>G (p.Asp1201Glu)
c.5517T>G (p.Asp1839Glu)
c.5241T>G (p.Asp1747Glu)
9g.115046567A>GCA198692675TNCc.318-4226T>C
c.3215-4226T>C (n.3215-4226T>C)
c.3879T>C (p.Asp1293=)
c.1911T>C (p.Asp637=)
c.567T>C (p.Asp189=)
c.3926T>C
c.4968T>C (p.Asp1656=)
c.4422T>C (p.Asp1474=)
c.4307-4226T>C (n.4307-4226T>C)
n.286T>C
n.253-4226T>C
n.40-4226T>C
c.655T>C
c.4695T>C (p.Asp1565=)
c.4034-4226T>C (n.4034-4226T>C)
c.3330T>C (p.Asp1110=)
c.5244T>C (p.Asp1748=)
c.3488-4226T>C (n.3488-4226T>C)
c.4971T>C (p.Asp1657=)
c.4425T>C (p.Asp1475=)
c.4580-4226T>C (n.4580-4226T>C)
c.4152T>C (p.Asp1384=)
c.3761-4226T>C (n.3761-4226T>C)
c.3603T>C (p.Asp1201=)
c.5517T>C (p.Asp1839=)
c.5241T>C (p.Asp1747=)
 dbSNP gnomAD v4
9g.115046567A>TCA374631093TNCc.318-4226T>A
c.3215-4226T>A (n.3215-4226T>A)
c.3879T>A (p.Asp1293Glu)
c.1911T>A (p.Asp637Glu)
c.567T>A (p.Asp189Glu)
c.3926T>A
c.4968T>A (p.Asp1656Glu)
c.4422T>A (p.Asp1474Glu)
c.4307-4226T>A (n.4307-4226T>A)
n.286T>A
n.253-4226T>A
n.40-4226T>A
c.655T>A
c.4695T>A (p.Asp1565Glu)
c.4034-4226T>A (n.4034-4226T>A)
c.3330T>A (p.Asp1110Glu)
c.5244T>A (p.Asp1748Glu)
c.3488-4226T>A (n.3488-4226T>A)
c.4971T>A (p.Asp1657Glu)
c.4425T>A (p.Asp1475Glu)
c.4580-4226T>A (n.4580-4226T>A)
c.4152T>A (p.Asp1384Glu)
c.3761-4226T>A (n.3761-4226T>A)
c.3603T>A (p.Asp1201Glu)
c.5517T>A (p.Asp1839Glu)
c.5241T>A (p.Asp1747Glu)
9g.115046568T>ACA374631098TNCc.318-4227A>T
c.3215-4227A>T (n.3215-4227A>T)
c.3878A>T (p.Asp1293Val)
c.1910A>T (p.Asp637Val)
c.566A>T (p.Asp189Val)
c.3925A>T
c.4967A>T (p.Asp1656Val)
c.4421A>T (p.Asp1474Val)
c.4307-4227A>T (n.4307-4227A>T)
n.285A>T
n.253-4227A>T
n.40-4227A>T
c.654A>T
c.4694A>T (p.Asp1565Val)
c.4034-4227A>T (n.4034-4227A>T)
c.3329A>T (p.Asp1110Val)
c.5243A>T (p.Asp1748Val)
c.3488-4227A>T (n.3488-4227A>T)
c.4970A>T (p.Asp1657Val)
c.4424A>T (p.Asp1475Val)
c.4580-4227A>T (n.4580-4227A>T)
c.4151A>T (p.Asp1384Val)
c.3761-4227A>T (n.3761-4227A>T)
c.3602A>T (p.Asp1201Val)
c.5516A>T (p.Asp1839Val)
c.5240A>T (p.Asp1747Val)
9g.115046568T>CCA374631095TNCc.318-4227A>G
c.3215-4227A>G (n.3215-4227A>G)
c.3878A>G (p.Asp1293Gly)
c.1910A>G (p.Asp637Gly)
c.566A>G (p.Asp189Gly)
c.3925A>G
c.4967A>G (p.Asp1656Gly)
c.4421A>G (p.Asp1474Gly)
c.4307-4227A>G (n.4307-4227A>G)
n.285A>G
n.253-4227A>G
n.40-4227A>G
c.654A>G
c.4694A>G (p.Asp1565Gly)
c.4034-4227A>G (n.4034-4227A>G)
c.3329A>G (p.Asp1110Gly)
c.5243A>G (p.Asp1748Gly)
c.3488-4227A>G (n.3488-4227A>G)
c.4970A>G (p.Asp1657Gly)
c.4424A>G (p.Asp1475Gly)
c.4580-4227A>G (n.4580-4227A>G)
c.4151A>G (p.Asp1384Gly)
c.3761-4227A>G (n.3761-4227A>G)
c.3602A>G (p.Asp1201Gly)
c.5516A>G (p.Asp1839Gly)
c.5240A>G (p.Asp1747Gly)
9g.115046568T>GCA374631096TNCc.318-4227A>C
c.3215-4227A>C (n.3215-4227A>C)
c.3878A>C (p.Asp1293Ala)
c.1910A>C (p.Asp637Ala)
c.566A>C (p.Asp189Ala)
c.3925A>C
c.4967A>C (p.Asp1656Ala)
c.4421A>C (p.Asp1474Ala)
c.4307-4227A>C (n.4307-4227A>C)
n.285A>C
n.253-4227A>C
n.40-4227A>C
c.654A>C
c.4694A>C (p.Asp1565Ala)
c.4034-4227A>C (n.4034-4227A>C)
c.3329A>C (p.Asp1110Ala)
c.5243A>C (p.Asp1748Ala)
c.3488-4227A>C (n.3488-4227A>C)
c.4970A>C (p.Asp1657Ala)
c.4424A>C (p.Asp1475Ala)
c.4580-4227A>C (n.4580-4227A>C)
c.4151A>C (p.Asp1384Ala)
c.3761-4227A>C (n.3761-4227A>C)
c.3602A>C (p.Asp1201Ala)
c.5516A>C (p.Asp1839Ala)
c.5240A>C (p.Asp1747Ala)
9g.115046569C>ACA374631099TNCc.318-4228G>T
c.3215-4228G>T (n.3215-4228G>T)
c.3877G>T (p.Asp1293Tyr)
c.1909G>T (p.Asp637Tyr)
c.565G>T (p.Asp189Tyr)
c.3924G>T
c.4966G>T (p.Asp1656Tyr)
c.4420G>T (p.Asp1474Tyr)
c.4307-4228G>T (n.4307-4228G>T)
n.284G>T
n.253-4228G>T
n.40-4228G>T
c.653G>T
c.4693G>T (p.Asp1565Tyr)
c.4034-4228G>T (n.4034-4228G>T)
c.3328G>T (p.Asp1110Tyr)
c.5242G>T (p.Asp1748Tyr)
c.3488-4228G>T (n.3488-4228G>T)
c.4969G>T (p.Asp1657Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4580-4228G>T (n.4580-4228G>T)
c.4150G>T (p.Asp1384Tyr)
c.3761-4228G>T (n.3761-4228G>T)
c.3601G>T (p.Asp1201Tyr)
c.5515G>T (p.Asp1839Tyr)
c.5239G>T (p.Asp1747Tyr)
 gnomAD v4
9g.115046569C=CA1874118913TNCc.318-4228G=
c.3215-4228G= (n.3215-4228G=)
c.3877G= (p.Asp1293=)
c.1909G= (p.Asp637=)
c.565G= (p.Asp189=)
c.3924G=
c.4966G= (p.Asp1656=)
c.4420G= (p.Asp1474=)
c.4307-4228G= (n.4307-4228G=)
n.284G=
n.253-4228G=
n.40-4228G=
c.653G=
c.4693G= (p.Asp1565=)
c.4034-4228G= (n.4034-4228G=)
c.3328G= (p.Asp1110=)
c.5242G= (p.Asp1748=)
c.3488-4228G= (n.3488-4228G=)
c.4969G= (p.Asp1657=)
c.4423G= (p.Asp1475=)
c.4580-4228G= (n.4580-4228G=)
c.4150G= (p.Asp1384=)
c.3761-4228G= (n.3761-4228G=)
c.3601G= (p.Asp1201=)
c.5515G= (p.Asp1839=)
c.5239G= (p.Asp1747=)
9g.115046569C>GCA374631100TNCc.318-4228G>C
c.3215-4228G>C (n.3215-4228G>C)
c.3877G>C (p.Asp1293His)
c.1909G>C (p.Asp637His)
c.565G>C (p.Asp189His)
c.3924G>C
c.4966G>C (p.Asp1656His)
c.4420G>C (p.Asp1474His)
c.4307-4228G>C (n.4307-4228G>C)
n.284G>C
n.253-4228G>C
n.40-4228G>C
c.653G>C
c.4693G>C (p.Asp1565His)
c.4034-4228G>C (n.4034-4228G>C)
c.3328G>C (p.Asp1110His)
c.5242G>C (p.Asp1748His)
c.3488-4228G>C (n.3488-4228G>C)
c.4969G>C (p.Asp1657His)
c.4423G>C (p.Asp1475His)
c.4580-4228G>C (n.4580-4228G>C)
c.4150G>C (p.Asp1384His)
c.3761-4228G>C (n.3761-4228G>C)
c.3601G>C (p.Asp1201His)
c.5515G>C (p.Asp1839His)
c.5239G>C (p.Asp1747His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046569C>TCA5207778TNCc.318-4228G>A
c.3215-4228G>A (n.3215-4228G>A)
c.3877G>A (p.Asp1293Asn)
c.1909G>A (p.Asp637Asn)
c.565G>A (p.Asp189Asn)
c.3924G>A
c.4966G>A (p.Asp1656Asn)
c.4420G>A (p.Asp1474Asn)
c.4307-4228G>A (n.4307-4228G>A)
n.284G>A
n.253-4228G>A
n.40-4228G>A
c.653G>A
c.4693G>A (p.Asp1565Asn)
c.4034-4228G>A (n.4034-4228G>A)
c.3328G>A (p.Asp1110Asn)
c.5242G>A (p.Asp1748Asn)
c.3488-4228G>A (n.3488-4228G>A)
c.4969G>A (p.Asp1657Asn)
c.4423G>A (p.Asp1475Asn)
c.4580-4228G>A (n.4580-4228G>A)
c.4150G>A (p.Asp1384Asn)
c.3761-4228G>A (n.3761-4228G>A)
c.3601G>A (p.Asp1201Asn)
c.5515G>A (p.Asp1839Asn)
c.5239G>A (p.Asp1747Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.115046570T>ACA374631103TNCc.318-4229A>T
c.3215-4229A>T (n.3215-4229A>T)
c.3876A>T (p.Arg1292Ser)
c.1908A>T (p.Arg636Ser)
c.564A>T (p.Arg188Ser)
c.3923A>T
c.4965A>T (p.Arg1655Ser)
c.4419A>T (p.Arg1473Ser)
c.4307-4229A>T (n.4307-4229A>T)
n.283A>T
n.253-4229A>T
n.40-4229A>T
c.652A>T
c.4692A>T (p.Arg1564Ser)
c.4034-4229A>T (n.4034-4229A>T)
c.3327A>T (p.Arg1109Ser)
c.5241A>T (p.Arg1747Ser)
c.3488-4229A>T (n.3488-4229A>T)
c.4968A>T (p.Arg1656Ser)
c.4422A>T (p.Arg1474Ser)
c.4580-4229A>T (n.4580-4229A>T)
c.4149A>T (p.Arg1383Ser)
c.3761-4229A>T (n.3761-4229A>T)
c.3600A>T (p.Arg1200Ser)
c.5514A>T (p.Arg1838Ser)
c.5238A>T (p.Arg1746Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.115046570T>CCA466912486TNCc.318-4229A>G
c.3215-4229A>G (n.3215-4229A>G)
c.3876A>G (p.Arg1292=)
c.1908A>G (p.Arg636=)
c.564A>G (p.Arg188=)
c.3923A>G
c.4965A>G (p.Arg1655=)
c.4419A>G (p.Arg1473=)
c.4307-4229A>G (n.4307-4229A>G)
n.283A>G
n.253-4229A>G
n.40-4229A>G
c.652A>G
c.4692A>G (p.Arg1564=)
c.4034-4229A>G (n.4034-4229A>G)
c.3327A>G (p.Arg1109=)
c.5241A>G (p.Arg1747=)
c.3488-4229A>G (n.3488-4229A>G)
c.4968A>G (p.Arg1656=)
c.4422A>G (p.Arg1474=)
c.4580-4229A>G (n.4580-4229A>G)
c.4149A>G (p.Arg1383=)
c.3761-4229A>G (n.3761-4229A>G)
c.3600A>G (p.Arg1200=)
c.5514A>G (p.Arg1838=)
c.5238A>G (p.Arg1746=)
9g.115046570T>GCA374631105TNCc.318-4229A>C
c.3215-4229A>C (n.3215-4229A>C)
c.3876A>C (p.Arg1292Ser)
c.1908A>C (p.Arg636Ser)
c.564A>C (p.Arg188Ser)
c.3923A>C
c.4965A>C (p.Arg1655Ser)
c.4419A>C (p.Arg1473Ser)
c.4307-4229A>C (n.4307-4229A>C)
n.283A>C
n.253-4229A>C
n.40-4229A>C
c.652A>C
c.4692A>C (p.Arg1564Ser)
c.4034-4229A>C (n.4034-4229A>C)
c.3327A>C (p.Arg1109Ser)
c.5241A>C (p.Arg1747Ser)
c.3488-4229A>C (n.3488-4229A>C)
c.4968A>C (p.Arg1656Ser)
c.4422A>C (p.Arg1474Ser)
c.4580-4229A>C (n.4580-4229A>C)
c.4149A>C (p.Arg1383Ser)
c.3761-4229A>C (n.3761-4229A>C)
c.3600A>C (p.Arg1200Ser)
c.5514A>C (p.Arg1838Ser)
c.5238A>C (p.Arg1746Ser)
 gnomAD v4
9g.115046570T=CA1874118914TNCc.318-4229A=
c.3215-4229A= (n.3215-4229A=)
c.3876A= (p.Arg1292=)
c.1908A= (p.Arg636=)
c.564A= (p.Arg188=)
c.3923A=
c.4965A= (p.Arg1655=)
c.4419A= (p.Arg1473=)
c.4307-4229A= (n.4307-4229A=)
n.283A=
n.253-4229A=
n.40-4229A=
c.652A=
c.4692A= (p.Arg1564=)
c.4034-4229A= (n.4034-4229A=)
c.3327A= (p.Arg1109=)
c.5241A= (p.Arg1747=)
c.3488-4229A= (n.3488-4229A=)
c.4968A= (p.Arg1656=)
c.4422A= (p.Arg1474=)
c.4580-4229A= (n.4580-4229A=)
c.4149A= (p.Arg1383=)
c.3761-4229A= (n.3761-4229A=)
c.3600A= (p.Arg1200=)
c.5514A= (p.Arg1838=)
c.5238A= (p.Arg1746=)

Number of alleles fetched