Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046420T>ACA466912309TNCc.318-4079A>T
c.3215-4079A>T (n.3215-4079A>T)
c.4026A>T (p.Ile1342=)
c.2058A>T (p.Ile686=)
c.714A>T (p.Ile238=)
c.4073A>T
c.5115A>T (p.Ile1705=)
c.4569A>T (p.Ile1523=)
c.4307-4079A>T (n.4307-4079A>T)
n.253-4079A>T
n.40-4079A>T
c.802A>T
c.4842A>T (p.Ile1614=)
c.4034-4079A>T (n.4034-4079A>T)
c.3477A>T (p.Ile1159=)
c.5391A>T (p.Ile1797=)
c.3488-4079A>T (n.3488-4079A>T)
c.5118A>T (p.Ile1706=)
c.4572A>T (p.Ile1524=)
c.4580-4079A>T (n.4580-4079A>T)
c.4299A>T (p.Ile1433=)
c.3761-4079A>T (n.3761-4079A>T)
c.3750A>T (p.Ile1250=)
c.5664A>T (p.Ile1888=)
c.5388A>T (p.Ile1796=)
9g.115046420T>CCA374630518TNCc.318-4079A>G
c.3215-4079A>G (n.3215-4079A>G)
c.4026A>G (p.Ile1342Met)
c.2058A>G (p.Ile686Met)
c.714A>G (p.Ile238Met)
c.4073A>G
c.5115A>G (p.Ile1705Met)
c.4569A>G (p.Ile1523Met)
c.4307-4079A>G (n.4307-4079A>G)
n.253-4079A>G
n.40-4079A>G
c.802A>G
c.4842A>G (p.Ile1614Met)
c.4034-4079A>G (n.4034-4079A>G)
c.3477A>G (p.Ile1159Met)
c.5391A>G (p.Ile1797Met)
c.3488-4079A>G (n.3488-4079A>G)
c.5118A>G (p.Ile1706Met)
c.4572A>G (p.Ile1524Met)
c.4580-4079A>G (n.4580-4079A>G)
c.4299A>G (p.Ile1433Met)
c.3761-4079A>G (n.3761-4079A>G)
c.3750A>G (p.Ile1250Met)
c.5664A>G (p.Ile1888Met)
c.5388A>G (p.Ile1796Met)
9g.115046420T>GCA466912311TNCc.318-4079A>C
c.3215-4079A>C (n.3215-4079A>C)
c.4026A>C (p.Ile1342=)
c.2058A>C (p.Ile686=)
c.714A>C (p.Ile238=)
c.4073A>C
c.5115A>C (p.Ile1705=)
c.4569A>C (p.Ile1523=)
c.4307-4079A>C (n.4307-4079A>C)
n.253-4079A>C
n.40-4079A>C
c.802A>C
c.4842A>C (p.Ile1614=)
c.4034-4079A>C (n.4034-4079A>C)
c.3477A>C (p.Ile1159=)
c.5391A>C (p.Ile1797=)
c.3488-4079A>C (n.3488-4079A>C)
c.5118A>C (p.Ile1706=)
c.4572A>C (p.Ile1524=)
c.4580-4079A>C (n.4580-4079A>C)
c.4299A>C (p.Ile1433=)
c.3761-4079A>C (n.3761-4079A>C)
c.3750A>C (p.Ile1250=)
c.5664A>C (p.Ile1888=)
c.5388A>C (p.Ile1796=)
9g.115046421A=CA1874118861TNCc.318-4080T=
c.3215-4080T= (n.3215-4080T=)
c.4025T= (p.Ile1342=)
c.2057T= (p.Ile686=)
c.713T= (p.Ile238=)
c.4072T=
c.5114T= (p.Ile1705=)
c.4568T= (p.Ile1523=)
c.4307-4080T= (n.4307-4080T=)
n.253-4080T=
n.40-4080T=
c.801T=
c.4841T= (p.Ile1614=)
c.4034-4080T= (n.4034-4080T=)
c.3476T= (p.Ile1159=)
c.5390T= (p.Ile1797=)
c.3488-4080T= (n.3488-4080T=)
c.5117T= (p.Ile1706=)
c.4571T= (p.Ile1524=)
c.4580-4080T= (n.4580-4080T=)
c.4298T= (p.Ile1433=)
c.3761-4080T= (n.3761-4080T=)
c.3749T= (p.Ile1250=)
c.5663T= (p.Ile1888=)
c.5387T= (p.Ile1796=)
9g.115046421A>CCA374630519TNCc.318-4080T>G
c.3215-4080T>G (n.3215-4080T>G)
c.4025T>G (p.Ile1342Arg)
c.2057T>G (p.Ile686Arg)
c.713T>G (p.Ile238Arg)
c.4072T>G
c.5114T>G (p.Ile1705Arg)
c.4568T>G (p.Ile1523Arg)
c.4307-4080T>G (n.4307-4080T>G)
n.253-4080T>G
n.40-4080T>G
c.801T>G
c.4841T>G (p.Ile1614Arg)
c.4034-4080T>G (n.4034-4080T>G)
c.3476T>G (p.Ile1159Arg)
c.5390T>G (p.Ile1797Arg)
c.3488-4080T>G (n.3488-4080T>G)
c.5117T>G (p.Ile1706Arg)
c.4571T>G (p.Ile1524Arg)
c.4580-4080T>G (n.4580-4080T>G)
c.4298T>G (p.Ile1433Arg)
c.3761-4080T>G (n.3761-4080T>G)
c.3749T>G (p.Ile1250Arg)
c.5663T>G (p.Ile1888Arg)
c.5387T>G (p.Ile1796Arg)
9g.115046421A>GCA198692483TNCc.318-4080T>C
c.3215-4080T>C (n.3215-4080T>C)
c.4025T>C (p.Ile1342Thr)
c.2057T>C (p.Ile686Thr)
c.713T>C (p.Ile238Thr)
c.4072T>C
c.5114T>C (p.Ile1705Thr)
c.4568T>C (p.Ile1523Thr)
c.4307-4080T>C (n.4307-4080T>C)
n.253-4080T>C
n.40-4080T>C
c.801T>C
c.4841T>C (p.Ile1614Thr)
c.4034-4080T>C (n.4034-4080T>C)
c.3476T>C (p.Ile1159Thr)
c.5390T>C (p.Ile1797Thr)
c.3488-4080T>C (n.3488-4080T>C)
c.5117T>C (p.Ile1706Thr)
c.4571T>C (p.Ile1524Thr)
c.4580-4080T>C (n.4580-4080T>C)
c.4298T>C (p.Ile1433Thr)
c.3761-4080T>C (n.3761-4080T>C)
c.3749T>C (p.Ile1250Thr)
c.5663T>C (p.Ile1888Thr)
c.5387T>C (p.Ile1796Thr)
 dbSNP
9g.115046421A>TCA374630521TNCc.318-4080T>A
c.3215-4080T>A (n.3215-4080T>A)
c.4025T>A (p.Ile1342Lys)
c.2057T>A (p.Ile686Lys)
c.713T>A (p.Ile238Lys)
c.4072T>A
c.5114T>A (p.Ile1705Lys)
c.4568T>A (p.Ile1523Lys)
c.4307-4080T>A (n.4307-4080T>A)
n.253-4080T>A
n.40-4080T>A
c.801T>A
c.4841T>A (p.Ile1614Lys)
c.4034-4080T>A (n.4034-4080T>A)
c.3476T>A (p.Ile1159Lys)
c.5390T>A (p.Ile1797Lys)
c.3488-4080T>A (n.3488-4080T>A)
c.5117T>A (p.Ile1706Lys)
c.4571T>A (p.Ile1524Lys)
c.4580-4080T>A (n.4580-4080T>A)
c.4298T>A (p.Ile1433Lys)
c.3761-4080T>A (n.3761-4080T>A)
c.3749T>A (p.Ile1250Lys)
c.5663T>A (p.Ile1888Lys)
c.5387T>A (p.Ile1796Lys)
9g.115046422T>ACA374630523TNCc.318-4081A>T
c.3215-4081A>T (n.3215-4081A>T)
c.4024A>T (p.Ile1342Leu)
c.2056A>T (p.Ile686Leu)
c.712A>T (p.Ile238Leu)
c.4071A>T
c.5113A>T (p.Ile1705Leu)
c.4567A>T (p.Ile1523Leu)
c.4307-4081A>T (n.4307-4081A>T)
n.253-4081A>T
n.40-4081A>T
c.800A>T
c.4840A>T (p.Ile1614Leu)
c.4034-4081A>T (n.4034-4081A>T)
c.3475A>T (p.Ile1159Leu)
c.5389A>T (p.Ile1797Leu)
c.3488-4081A>T (n.3488-4081A>T)
c.5116A>T (p.Ile1706Leu)
c.4570A>T (p.Ile1524Leu)
c.4580-4081A>T (n.4580-4081A>T)
c.4297A>T (p.Ile1433Leu)
c.3761-4081A>T (n.3761-4081A>T)
c.3748A>T (p.Ile1250Leu)
c.5662A>T (p.Ile1888Leu)
c.5386A>T (p.Ile1796Leu)
9g.115046422T>CCA374630524TNCc.318-4081A>G
c.3215-4081A>G (n.3215-4081A>G)
c.4024A>G (p.Ile1342Val)
c.2056A>G (p.Ile686Val)
c.712A>G (p.Ile238Val)
c.4071A>G
c.5113A>G (p.Ile1705Val)
c.4567A>G (p.Ile1523Val)
c.4307-4081A>G (n.4307-4081A>G)
n.253-4081A>G
n.40-4081A>G
c.800A>G
c.4840A>G (p.Ile1614Val)
c.4034-4081A>G (n.4034-4081A>G)
c.3475A>G (p.Ile1159Val)
c.5389A>G (p.Ile1797Val)
c.3488-4081A>G (n.3488-4081A>G)
c.5116A>G (p.Ile1706Val)
c.4570A>G (p.Ile1524Val)
c.4580-4081A>G (n.4580-4081A>G)
c.4297A>G (p.Ile1433Val)
c.3761-4081A>G (n.3761-4081A>G)
c.3748A>G (p.Ile1250Val)
c.5662A>G (p.Ile1888Val)
c.5386A>G (p.Ile1796Val)
 COSMIC
9g.115046422T>GCA374630526TNCc.318-4081A>C
c.3215-4081A>C (n.3215-4081A>C)
c.4024A>C (p.Ile1342Leu)
c.2056A>C (p.Ile686Leu)
c.712A>C (p.Ile238Leu)
c.4071A>C
c.5113A>C (p.Ile1705Leu)
c.4567A>C (p.Ile1523Leu)
c.4307-4081A>C (n.4307-4081A>C)
n.253-4081A>C
n.40-4081A>C
c.800A>C
c.4840A>C (p.Ile1614Leu)
c.4034-4081A>C (n.4034-4081A>C)
c.3475A>C (p.Ile1159Leu)
c.5389A>C (p.Ile1797Leu)
c.3488-4081A>C (n.3488-4081A>C)
c.5116A>C (p.Ile1706Leu)
c.4570A>C (p.Ile1524Leu)
c.4580-4081A>C (n.4580-4081A>C)
c.4297A>C (p.Ile1433Leu)
c.3761-4081A>C (n.3761-4081A>C)
c.3748A>C (p.Ile1250Leu)
c.5662A>C (p.Ile1888Leu)
c.5386A>C (p.Ile1796Leu)
9g.115046423A>CCA466912312TNCc.318-4082T>G
c.3215-4082T>G (n.3215-4082T>G)
c.4023T>G (p.Ala1341=)
c.2055T>G (p.Ala685=)
c.711T>G (p.Ala237=)
c.4070T>G
c.5112T>G (p.Ala1704=)
c.4566T>G (p.Ala1522=)
c.4307-4082T>G (n.4307-4082T>G)
n.253-4082T>G
n.40-4082T>G
c.799T>G
c.4839T>G (p.Ala1613=)
c.4034-4082T>G (n.4034-4082T>G)
c.3474T>G (p.Ala1158=)
c.5388T>G (p.Ala1796=)
c.3488-4082T>G (n.3488-4082T>G)
c.5115T>G (p.Ala1705=)
c.4569T>G (p.Ala1523=)
c.4580-4082T>G (n.4580-4082T>G)
c.4296T>G (p.Ala1432=)
c.3761-4082T>G (n.3761-4082T>G)
c.3747T>G (p.Ala1249=)
c.5661T>G (p.Ala1887=)
c.5385T>G (p.Ala1795=)
9g.115046423A>GCA466912314TNCc.318-4082T>C
c.3215-4082T>C (n.3215-4082T>C)
c.4023T>C (p.Ala1341=)
c.2055T>C (p.Ala685=)
c.711T>C (p.Ala237=)
c.4070T>C
c.5112T>C (p.Ala1704=)
c.4566T>C (p.Ala1522=)
c.4307-4082T>C (n.4307-4082T>C)
n.253-4082T>C
n.40-4082T>C
c.799T>C
c.4839T>C (p.Ala1613=)
c.4034-4082T>C (n.4034-4082T>C)
c.3474T>C (p.Ala1158=)
c.5388T>C (p.Ala1796=)
c.3488-4082T>C (n.3488-4082T>C)
c.5115T>C (p.Ala1705=)
c.4569T>C (p.Ala1523=)
c.4580-4082T>C (n.4580-4082T>C)
c.4296T>C (p.Ala1432=)
c.3761-4082T>C (n.3761-4082T>C)
c.3747T>C (p.Ala1249=)
c.5661T>C (p.Ala1887=)
c.5385T>C (p.Ala1795=)
 gnomAD v4
9g.115046423A>TCA466912315TNCc.318-4082T>A
c.3215-4082T>A (n.3215-4082T>A)
c.4023T>A (p.Ala1341=)
c.2055T>A (p.Ala685=)
c.711T>A (p.Ala237=)
c.4070T>A
c.5112T>A (p.Ala1704=)
c.4566T>A (p.Ala1522=)
c.4307-4082T>A (n.4307-4082T>A)
n.253-4082T>A
n.40-4082T>A
c.799T>A
c.4839T>A (p.Ala1613=)
c.4034-4082T>A (n.4034-4082T>A)
c.3474T>A (p.Ala1158=)
c.5388T>A (p.Ala1796=)
c.3488-4082T>A (n.3488-4082T>A)
c.5115T>A (p.Ala1705=)
c.4569T>A (p.Ala1523=)
c.4580-4082T>A (n.4580-4082T>A)
c.4296T>A (p.Ala1432=)
c.3761-4082T>A (n.3761-4082T>A)
c.3747T>A (p.Ala1249=)
c.5661T>A (p.Ala1887=)
c.5385T>A (p.Ala1795=)
9g.115046424G>ACA374630529TNCc.318-4083C>T
c.3215-4083C>T (n.3215-4083C>T)
c.4022C>T (p.Ala1341Val)
c.2054C>T (p.Ala685Val)
c.710C>T (p.Ala237Val)
c.4069C>T
c.5111C>T (p.Ala1704Val)
c.4565C>T (p.Ala1522Val)
c.4307-4083C>T (n.4307-4083C>T)
n.253-4083C>T
n.40-4083C>T
c.798C>T
c.4838C>T (p.Ala1613Val)
c.4034-4083C>T (n.4034-4083C>T)
c.3473C>T (p.Ala1158Val)
c.5387C>T (p.Ala1796Val)
c.3488-4083C>T (n.3488-4083C>T)
c.5114C>T (p.Ala1705Val)
c.4568C>T (p.Ala1523Val)
c.4580-4083C>T (n.4580-4083C>T)
c.4295C>T (p.Ala1432Val)
c.3761-4083C>T (n.3761-4083C>T)
c.3746C>T (p.Ala1249Val)
c.5660C>T (p.Ala1887Val)
c.5384C>T (p.Ala1795Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115046424G>CCA374630531TNCc.318-4083C>G
c.3215-4083C>G (n.3215-4083C>G)
c.4022C>G (p.Ala1341Gly)
c.2054C>G (p.Ala685Gly)
c.710C>G (p.Ala237Gly)
c.4069C>G
c.5111C>G (p.Ala1704Gly)
c.4565C>G (p.Ala1522Gly)
c.4307-4083C>G (n.4307-4083C>G)
n.253-4083C>G
n.40-4083C>G
c.798C>G
c.4838C>G (p.Ala1613Gly)
c.4034-4083C>G (n.4034-4083C>G)
c.3473C>G (p.Ala1158Gly)
c.5387C>G (p.Ala1796Gly)
c.3488-4083C>G (n.3488-4083C>G)
c.5114C>G (p.Ala1705Gly)
c.4568C>G (p.Ala1523Gly)
c.4580-4083C>G (n.4580-4083C>G)
c.4295C>G (p.Ala1432Gly)
c.3761-4083C>G (n.3761-4083C>G)
c.3746C>G (p.Ala1249Gly)
c.5660C>G (p.Ala1887Gly)
c.5384C>G (p.Ala1795Gly)
9g.115046424G=CA1874118862TNCc.318-4083C=
c.3215-4083C= (n.3215-4083C=)
c.4022C= (p.Ala1341=)
c.2054C= (p.Ala685=)
c.710C= (p.Ala237=)
c.4069C=
c.5111C= (p.Ala1704=)
c.4565C= (p.Ala1522=)
c.4307-4083C= (n.4307-4083C=)
n.253-4083C=
n.40-4083C=
c.798C=
c.4838C= (p.Ala1613=)
c.4034-4083C= (n.4034-4083C=)
c.3473C= (p.Ala1158=)
c.5387C= (p.Ala1796=)
c.3488-4083C= (n.3488-4083C=)
c.5114C= (p.Ala1705=)
c.4568C= (p.Ala1523=)
c.4580-4083C= (n.4580-4083C=)
c.4295C= (p.Ala1432=)
c.3761-4083C= (n.3761-4083C=)
c.3746C= (p.Ala1249=)
c.5660C= (p.Ala1887=)
c.5384C= (p.Ala1795=)
9g.115046424G>TCA374630533TNCc.318-4083C>A
c.3215-4083C>A (n.3215-4083C>A)
c.4022C>A (p.Ala1341Asp)
c.2054C>A (p.Ala685Asp)
c.710C>A (p.Ala237Asp)
c.4069C>A
c.5111C>A (p.Ala1704Asp)
c.4565C>A (p.Ala1522Asp)
c.4307-4083C>A (n.4307-4083C>A)
n.253-4083C>A
n.40-4083C>A
c.798C>A
c.4838C>A (p.Ala1613Asp)
c.4034-4083C>A (n.4034-4083C>A)
c.3473C>A (p.Ala1158Asp)
c.5387C>A (p.Ala1796Asp)
c.3488-4083C>A (n.3488-4083C>A)
c.5114C>A (p.Ala1705Asp)
c.4568C>A (p.Ala1523Asp)
c.4580-4083C>A (n.4580-4083C>A)
c.4295C>A (p.Ala1432Asp)
c.3761-4083C>A (n.3761-4083C>A)
c.3746C>A (p.Ala1249Asp)
c.5660C>A (p.Ala1887Asp)
c.5384C>A (p.Ala1795Asp)
9g.115046425C>ACA5207755TNCc.318-4084G>T
c.3215-4084G>T (n.3215-4084G>T)
c.4021G>T (p.Ala1341Ser)
c.2053G>T (p.Ala685Ser)
c.709G>T (p.Ala237Ser)
c.4068G>T
c.5110G>T (p.Ala1704Ser)
c.4564G>T (p.Ala1522Ser)
c.4307-4084G>T (n.4307-4084G>T)
n.253-4084G>T
n.40-4084G>T
c.797G>T
c.4837G>T (p.Ala1613Ser)
c.4034-4084G>T (n.4034-4084G>T)
c.3472G>T (p.Ala1158Ser)
c.5386G>T (p.Ala1796Ser)
c.3488-4084G>T (n.3488-4084G>T)
c.5113G>T (p.Ala1705Ser)
c.4567G>T (p.Ala1523Ser)
c.4580-4084G>T (n.4580-4084G>T)
c.4294G>T (p.Ala1432Ser)
c.3761-4084G>T (n.3761-4084G>T)
c.3745G>T (p.Ala1249Ser)
c.5659G>T (p.Ala1887Ser)
c.5383G>T (p.Ala1795Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046425C=CA1874118863TNCc.318-4084G=
c.3215-4084G= (n.3215-4084G=)
c.4021G= (p.Ala1341=)
c.2053G= (p.Ala685=)
c.709G= (p.Ala237=)
c.4068G=
c.5110G= (p.Ala1704=)
c.4564G= (p.Ala1522=)
c.4307-4084G= (n.4307-4084G=)
n.253-4084G=
n.40-4084G=
c.797G=
c.4837G= (p.Ala1613=)
c.4034-4084G= (n.4034-4084G=)
c.3472G= (p.Ala1158=)
c.5386G= (p.Ala1796=)
c.3488-4084G= (n.3488-4084G=)
c.5113G= (p.Ala1705=)
c.4567G= (p.Ala1523=)
c.4580-4084G= (n.4580-4084G=)
c.4294G= (p.Ala1432=)
c.3761-4084G= (n.3761-4084G=)
c.3745G= (p.Ala1249=)
c.5659G= (p.Ala1887=)
c.5383G= (p.Ala1795=)
9g.115046425C>GCA374630536TNCc.318-4084G>C
c.3215-4084G>C (n.3215-4084G>C)
c.4021G>C (p.Ala1341Pro)
c.2053G>C (p.Ala685Pro)
c.709G>C (p.Ala237Pro)
c.4068G>C
c.5110G>C (p.Ala1704Pro)
c.4564G>C (p.Ala1522Pro)
c.4307-4084G>C (n.4307-4084G>C)
n.253-4084G>C
n.40-4084G>C
c.797G>C
c.4837G>C (p.Ala1613Pro)
c.4034-4084G>C (n.4034-4084G>C)
c.3472G>C (p.Ala1158Pro)
c.5386G>C (p.Ala1796Pro)
c.3488-4084G>C (n.3488-4084G>C)
c.5113G>C (p.Ala1705Pro)
c.4567G>C (p.Ala1523Pro)
c.4580-4084G>C (n.4580-4084G>C)
c.4294G>C (p.Ala1432Pro)
c.3761-4084G>C (n.3761-4084G>C)
c.3745G>C (p.Ala1249Pro)
c.5659G>C (p.Ala1887Pro)
c.5383G>C (p.Ala1795Pro)
9g.115046425C>TCA374630538TNCc.318-4084G>A
c.3215-4084G>A (n.3215-4084G>A)
c.4021G>A (p.Ala1341Thr)
c.2053G>A (p.Ala685Thr)
c.709G>A (p.Ala237Thr)
c.4068G>A
c.5110G>A (p.Ala1704Thr)
c.4564G>A (p.Ala1522Thr)
c.4307-4084G>A (n.4307-4084G>A)
n.253-4084G>A
n.40-4084G>A
c.797G>A
c.4837G>A (p.Ala1613Thr)
c.4034-4084G>A (n.4034-4084G>A)
c.3472G>A (p.Ala1158Thr)
c.5386G>A (p.Ala1796Thr)
c.3488-4084G>A (n.3488-4084G>A)
c.5113G>A (p.Ala1705Thr)
c.4567G>A (p.Ala1523Thr)
c.4580-4084G>A (n.4580-4084G>A)
c.4294G>A (p.Ala1432Thr)
c.3761-4084G>A (n.3761-4084G>A)
c.3745G>A (p.Ala1249Thr)
c.5659G>A (p.Ala1887Thr)
c.5383G>A (p.Ala1795Thr)
9g.115046426A=CA1874118864TNCc.318-4085T=
c.3215-4085T= (n.3215-4085T=)
c.4020T= (p.Ser1340=)
c.2052T= (p.Ser684=)
c.708T= (p.Ser236=)
c.4067T=
c.5109T= (p.Ser1703=)
c.4563T= (p.Ser1521=)
c.4307-4085T= (n.4307-4085T=)
n.253-4085T=
n.40-4085T=
c.796T=
c.4836T= (p.Ser1612=)
c.4034-4085T= (n.4034-4085T=)
c.3471T= (p.Ser1157=)
c.5385T= (p.Ser1795=)
c.3488-4085T= (n.3488-4085T=)
c.5112T= (p.Ser1704=)
c.4566T= (p.Ser1522=)
c.4580-4085T= (n.4580-4085T=)
c.4293T= (p.Ser1431=)
c.3761-4085T= (n.3761-4085T=)
c.3744T= (p.Ser1248=)
c.5658T= (p.Ser1886=)
c.5382T= (p.Ser1794=)
9g.115046426A>CCA374630543TNCc.318-4085T>G
c.3215-4085T>G (n.3215-4085T>G)
c.4020T>G (p.Ser1340Arg)
c.2052T>G (p.Ser684Arg)
c.708T>G (p.Ser236Arg)
c.4067T>G
c.5109T>G (p.Ser1703Arg)
c.4563T>G (p.Ser1521Arg)
c.4307-4085T>G (n.4307-4085T>G)
n.253-4085T>G
n.40-4085T>G
c.796T>G
c.4836T>G (p.Ser1612Arg)
c.4034-4085T>G (n.4034-4085T>G)
c.3471T>G (p.Ser1157Arg)
c.5385T>G (p.Ser1795Arg)
c.3488-4085T>G (n.3488-4085T>G)
c.5112T>G (p.Ser1704Arg)
c.4566T>G (p.Ser1522Arg)
c.4580-4085T>G (n.4580-4085T>G)
c.4293T>G (p.Ser1431Arg)
c.3761-4085T>G (n.3761-4085T>G)
c.3744T>G (p.Ser1248Arg)
c.5658T>G (p.Ser1886Arg)
c.5382T>G (p.Ser1794Arg)
 dbSNP
9g.115046426A>GCA5207756TNCc.318-4085T>C
c.3215-4085T>C (n.3215-4085T>C)
c.4020T>C (p.Ser1340=)
c.2052T>C (p.Ser684=)
c.708T>C (p.Ser236=)
c.4067T>C
c.5109T>C (p.Ser1703=)
c.4563T>C (p.Ser1521=)
c.4307-4085T>C (n.4307-4085T>C)
n.253-4085T>C
n.40-4085T>C
c.796T>C
c.4836T>C (p.Ser1612=)
c.4034-4085T>C (n.4034-4085T>C)
c.3471T>C (p.Ser1157=)
c.5385T>C (p.Ser1795=)
c.3488-4085T>C (n.3488-4085T>C)
c.5112T>C (p.Ser1704=)
c.4566T>C (p.Ser1522=)
c.4580-4085T>C (n.4580-4085T>C)
c.4293T>C (p.Ser1431=)
c.3761-4085T>C (n.3761-4085T>C)
c.3744T>C (p.Ser1248=)
c.5658T>C (p.Ser1886=)
c.5382T>C (p.Ser1794=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046426A>TCA374630541TNCc.318-4085T>A
c.3215-4085T>A (n.3215-4085T>A)
c.4020T>A (p.Ser1340Arg)
c.2052T>A (p.Ser684Arg)
c.708T>A (p.Ser236Arg)
c.4067T>A
c.5109T>A (p.Ser1703Arg)
c.4563T>A (p.Ser1521Arg)
c.4307-4085T>A (n.4307-4085T>A)
n.253-4085T>A
n.40-4085T>A
c.796T>A
c.4836T>A (p.Ser1612Arg)
c.4034-4085T>A (n.4034-4085T>A)
c.3471T>A (p.Ser1157Arg)
c.5385T>A (p.Ser1795Arg)
c.3488-4085T>A (n.3488-4085T>A)
c.5112T>A (p.Ser1704Arg)
c.4566T>A (p.Ser1522Arg)
c.4580-4085T>A (n.4580-4085T>A)
c.4293T>A (p.Ser1431Arg)
c.3761-4085T>A (n.3761-4085T>A)
c.3744T>A (p.Ser1248Arg)
c.5658T>A (p.Ser1886Arg)
c.5382T>A (p.Ser1794Arg)
9g.115046427C>ACA374630544TNCc.318-4086G>T
c.3215-4086G>T (n.3215-4086G>T)
c.4019G>T (p.Ser1340Ile)
c.2051G>T (p.Ser684Ile)
c.707G>T (p.Ser236Ile)
c.4066G>T
c.5108G>T (p.Ser1703Ile)
c.4562G>T (p.Ser1521Ile)
c.4307-4086G>T (n.4307-4086G>T)
n.253-4086G>T
n.40-4086G>T
c.795G>T
c.4835G>T (p.Ser1612Ile)
c.4034-4086G>T (n.4034-4086G>T)
c.3470G>T (p.Ser1157Ile)
c.5384G>T (p.Ser1795Ile)
c.3488-4086G>T (n.3488-4086G>T)
c.5111G>T (p.Ser1704Ile)
c.4565G>T (p.Ser1522Ile)
c.4580-4086G>T (n.4580-4086G>T)
c.4292G>T (p.Ser1431Ile)
c.3761-4086G>T (n.3761-4086G>T)
c.3743G>T (p.Ser1248Ile)
c.5657G>T (p.Ser1886Ile)
c.5381G>T (p.Ser1794Ile)
 gnomAD v4
9g.115046427C=CA1874118865TNCc.318-4086G=
c.3215-4086G= (n.3215-4086G=)
c.4019G= (p.Ser1340=)
c.2051G= (p.Ser684=)
c.707G= (p.Ser236=)
c.4066G=
c.5108G= (p.Ser1703=)
c.4562G= (p.Ser1521=)
c.4307-4086G= (n.4307-4086G=)
n.253-4086G=
n.40-4086G=
c.795G=
c.4835G= (p.Ser1612=)
c.4034-4086G= (n.4034-4086G=)
c.3470G= (p.Ser1157=)
c.5384G= (p.Ser1795=)
c.3488-4086G= (n.3488-4086G=)
c.5111G= (p.Ser1704=)
c.4565G= (p.Ser1522=)
c.4580-4086G= (n.4580-4086G=)
c.4292G= (p.Ser1431=)
c.3761-4086G= (n.3761-4086G=)
c.3743G= (p.Ser1248=)
c.5657G= (p.Ser1886=)
c.5381G= (p.Ser1794=)
9g.115046427C>GCA374630546TNCc.318-4086G>C
c.3215-4086G>C (n.3215-4086G>C)
c.4019G>C (p.Ser1340Thr)
c.2051G>C (p.Ser684Thr)
c.707G>C (p.Ser236Thr)
c.4066G>C
c.5108G>C (p.Ser1703Thr)
c.4562G>C (p.Ser1521Thr)
c.4307-4086G>C (n.4307-4086G>C)
n.253-4086G>C
n.40-4086G>C
c.795G>C
c.4835G>C (p.Ser1612Thr)
c.4034-4086G>C (n.4034-4086G>C)
c.3470G>C (p.Ser1157Thr)
c.5384G>C (p.Ser1795Thr)
c.3488-4086G>C (n.3488-4086G>C)
c.5111G>C (p.Ser1704Thr)
c.4565G>C (p.Ser1522Thr)
c.4580-4086G>C (n.4580-4086G>C)
c.4292G>C (p.Ser1431Thr)
c.3761-4086G>C (n.3761-4086G>C)
c.3743G>C (p.Ser1248Thr)
c.5657G>C (p.Ser1886Thr)
c.5381G>C (p.Ser1794Thr)
9g.115046427C>TCA374630548TNCc.318-4086G>A
c.3215-4086G>A (n.3215-4086G>A)
c.4019G>A (p.Ser1340Asn)
c.2051G>A (p.Ser684Asn)
c.707G>A (p.Ser236Asn)
c.4066G>A
c.5108G>A (p.Ser1703Asn)
c.4562G>A (p.Ser1521Asn)
c.4307-4086G>A (n.4307-4086G>A)
n.253-4086G>A
n.40-4086G>A
c.795G>A
c.4835G>A (p.Ser1612Asn)
c.4034-4086G>A (n.4034-4086G>A)
c.3470G>A (p.Ser1157Asn)
c.5384G>A (p.Ser1795Asn)
c.3488-4086G>A (n.3488-4086G>A)
c.5111G>A (p.Ser1704Asn)
c.4565G>A (p.Ser1522Asn)
c.4580-4086G>A (n.4580-4086G>A)
c.4292G>A (p.Ser1431Asn)
c.3761-4086G>A (n.3761-4086G>A)
c.3743G>A (p.Ser1248Asn)
c.5657G>A (p.Ser1886Asn)
c.5381G>A (p.Ser1794Asn)
 ClinVar dbSNP gnomAD v4
9g.115046428T>ACA374630550TNCc.318-4087A>T
c.3215-4087A>T (n.3215-4087A>T)
c.4018A>T (p.Ser1340Cys)
c.2050A>T (p.Ser684Cys)
c.706A>T (p.Ser236Cys)
c.4065A>T
c.5107A>T (p.Ser1703Cys)
c.4561A>T (p.Ser1521Cys)
c.4307-4087A>T (n.4307-4087A>T)
n.253-4087A>T
n.40-4087A>T
c.794A>T
c.4834A>T (p.Ser1612Cys)
c.4034-4087A>T (n.4034-4087A>T)
c.3469A>T (p.Ser1157Cys)
c.5383A>T (p.Ser1795Cys)
c.3488-4087A>T (n.3488-4087A>T)
c.5110A>T (p.Ser1704Cys)
c.4564A>T (p.Ser1522Cys)
c.4580-4087A>T (n.4580-4087A>T)
c.4291A>T (p.Ser1431Cys)
c.3761-4087A>T (n.3761-4087A>T)
c.3742A>T (p.Ser1248Cys)
c.5656A>T (p.Ser1886Cys)
c.5380A>T (p.Ser1794Cys)
9g.115046428T>CCA374630552TNCc.318-4087A>G
c.3215-4087A>G (n.3215-4087A>G)
c.4018A>G (p.Ser1340Gly)
c.2050A>G (p.Ser684Gly)
c.706A>G (p.Ser236Gly)
c.4065A>G
c.5107A>G (p.Ser1703Gly)
c.4561A>G (p.Ser1521Gly)
c.4307-4087A>G (n.4307-4087A>G)
n.253-4087A>G
n.40-4087A>G
c.794A>G
c.4834A>G (p.Ser1612Gly)
c.4034-4087A>G (n.4034-4087A>G)
c.3469A>G (p.Ser1157Gly)
c.5383A>G (p.Ser1795Gly)
c.3488-4087A>G (n.3488-4087A>G)
c.5110A>G (p.Ser1704Gly)
c.4564A>G (p.Ser1522Gly)
c.4580-4087A>G (n.4580-4087A>G)
c.4291A>G (p.Ser1431Gly)
c.3761-4087A>G (n.3761-4087A>G)
c.3742A>G (p.Ser1248Gly)
c.5656A>G (p.Ser1886Gly)
c.5380A>G (p.Ser1794Gly)
9g.115046428T>GCA374630554TNCc.318-4087A>C
c.3215-4087A>C (n.3215-4087A>C)
c.4018A>C (p.Ser1340Arg)
c.2050A>C (p.Ser684Arg)
c.706A>C (p.Ser236Arg)
c.4065A>C
c.5107A>C (p.Ser1703Arg)
c.4561A>C (p.Ser1521Arg)
c.4307-4087A>C (n.4307-4087A>C)
n.253-4087A>C
n.40-4087A>C
c.794A>C
c.4834A>C (p.Ser1612Arg)
c.4034-4087A>C (n.4034-4087A>C)
c.3469A>C (p.Ser1157Arg)
c.5383A>C (p.Ser1795Arg)
c.3488-4087A>C (n.3488-4087A>C)
c.5110A>C (p.Ser1704Arg)
c.4564A>C (p.Ser1522Arg)
c.4580-4087A>C (n.4580-4087A>C)
c.4291A>C (p.Ser1431Arg)
c.3761-4087A>C (n.3761-4087A>C)
c.3742A>C (p.Ser1248Arg)
c.5656A>C (p.Ser1886Arg)
c.5380A>C (p.Ser1794Arg)
9g.115046429G>ACA466912320TNCc.318-4088C>T
c.3215-4088C>T (n.3215-4088C>T)
c.4017C>T (p.Val1339=)
c.2049C>T (p.Val683=)
c.705C>T (p.Val235=)
c.4064C>T
c.5106C>T (p.Val1702=)
c.4560C>T (p.Val1520=)
c.4307-4088C>T (n.4307-4088C>T)
n.253-4088C>T
n.40-4088C>T
c.793C>T
c.4833C>T (p.Val1611=)
c.4034-4088C>T (n.4034-4088C>T)
c.3468C>T (p.Val1156=)
c.5382C>T (p.Val1794=)
c.3488-4088C>T (n.3488-4088C>T)
c.5109C>T (p.Val1703=)
c.4563C>T (p.Val1521=)
c.4580-4088C>T (n.4580-4088C>T)
c.4290C>T (p.Val1430=)
c.3761-4088C>T (n.3761-4088C>T)
c.3741C>T (p.Val1247=)
c.5655C>T (p.Val1885=)
c.5379C>T (p.Val1793=)
9g.115046429G>CCA466912321TNCc.318-4088C>G
c.3215-4088C>G (n.3215-4088C>G)
c.4017C>G (p.Val1339=)
c.2049C>G (p.Val683=)
c.705C>G (p.Val235=)
c.4064C>G
c.5106C>G (p.Val1702=)
c.4560C>G (p.Val1520=)
c.4307-4088C>G (n.4307-4088C>G)
n.253-4088C>G
n.40-4088C>G
c.793C>G
c.4833C>G (p.Val1611=)
c.4034-4088C>G (n.4034-4088C>G)
c.3468C>G (p.Val1156=)
c.5382C>G (p.Val1794=)
c.3488-4088C>G (n.3488-4088C>G)
c.5109C>G (p.Val1703=)
c.4563C>G (p.Val1521=)
c.4580-4088C>G (n.4580-4088C>G)
c.4290C>G (p.Val1430=)
c.3761-4088C>G (n.3761-4088C>G)
c.3741C>G (p.Val1247=)
c.5655C>G (p.Val1885=)
c.5379C>G (p.Val1793=)
9g.115046429G>TCA466912322TNCc.318-4088C>A
c.3215-4088C>A (n.3215-4088C>A)
c.4017C>A (p.Val1339=)
c.2049C>A (p.Val683=)
c.705C>A (p.Val235=)
c.4064C>A
c.5106C>A (p.Val1702=)
c.4560C>A (p.Val1520=)
c.4307-4088C>A (n.4307-4088C>A)
n.253-4088C>A
n.40-4088C>A
c.793C>A
c.4833C>A (p.Val1611=)
c.4034-4088C>A (n.4034-4088C>A)
c.3468C>A (p.Val1156=)
c.5382C>A (p.Val1794=)
c.3488-4088C>A (n.3488-4088C>A)
c.5109C>A (p.Val1703=)
c.4563C>A (p.Val1521=)
c.4580-4088C>A (n.4580-4088C>A)
c.4290C>A (p.Val1430=)
c.3761-4088C>A (n.3761-4088C>A)
c.3741C>A (p.Val1247=)
c.5655C>A (p.Val1885=)
c.5379C>A (p.Val1793=)
9g.115046430A>CCA374630556TNCc.318-4089T>G
c.3215-4089T>G (n.3215-4089T>G)
c.4016T>G (p.Val1339Gly)
c.2048T>G (p.Val683Gly)
c.704T>G (p.Val235Gly)
c.4063T>G
c.5105T>G (p.Val1702Gly)
c.4559T>G (p.Val1520Gly)
c.4307-4089T>G (n.4307-4089T>G)
n.253-4089T>G
n.40-4089T>G
c.792T>G
c.4832T>G (p.Val1611Gly)
c.4034-4089T>G (n.4034-4089T>G)
c.3467T>G (p.Val1156Gly)
c.5381T>G (p.Val1794Gly)
c.3488-4089T>G (n.3488-4089T>G)
c.5108T>G (p.Val1703Gly)
c.4562T>G (p.Val1521Gly)
c.4580-4089T>G (n.4580-4089T>G)
c.4289T>G (p.Val1430Gly)
c.3761-4089T>G (n.3761-4089T>G)
c.3740T>G (p.Val1247Gly)
c.5654T>G (p.Val1885Gly)
c.5378T>G (p.Val1793Gly)
9g.115046430A>GCA374630558TNCc.318-4089T>C
c.3215-4089T>C (n.3215-4089T>C)
c.4016T>C (p.Val1339Ala)
c.2048T>C (p.Val683Ala)
c.704T>C (p.Val235Ala)
c.4063T>C
c.5105T>C (p.Val1702Ala)
c.4559T>C (p.Val1520Ala)
c.4307-4089T>C (n.4307-4089T>C)
n.253-4089T>C
n.40-4089T>C
c.792T>C
c.4832T>C (p.Val1611Ala)
c.4034-4089T>C (n.4034-4089T>C)
c.3467T>C (p.Val1156Ala)
c.5381T>C (p.Val1794Ala)
c.3488-4089T>C (n.3488-4089T>C)
c.5108T>C (p.Val1703Ala)
c.4562T>C (p.Val1521Ala)
c.4580-4089T>C (n.4580-4089T>C)
c.4289T>C (p.Val1430Ala)
c.3761-4089T>C (n.3761-4089T>C)
c.3740T>C (p.Val1247Ala)
c.5654T>C (p.Val1885Ala)
c.5378T>C (p.Val1793Ala)
9g.115046430A>TCA374630560TNCc.318-4089T>A
c.3215-4089T>A (n.3215-4089T>A)
c.4016T>A (p.Val1339Asp)
c.2048T>A (p.Val683Asp)
c.704T>A (p.Val235Asp)
c.4063T>A
c.5105T>A (p.Val1702Asp)
c.4559T>A (p.Val1520Asp)
c.4307-4089T>A (n.4307-4089T>A)
n.253-4089T>A
n.40-4089T>A
c.792T>A
c.4832T>A (p.Val1611Asp)
c.4034-4089T>A (n.4034-4089T>A)
c.3467T>A (p.Val1156Asp)
c.5381T>A (p.Val1794Asp)
c.3488-4089T>A (n.3488-4089T>A)
c.5108T>A (p.Val1703Asp)
c.4562T>A (p.Val1521Asp)
c.4580-4089T>A (n.4580-4089T>A)
c.4289T>A (p.Val1430Asp)
c.3761-4089T>A (n.3761-4089T>A)
c.3740T>A (p.Val1247Asp)
c.5654T>A (p.Val1885Asp)
c.5378T>A (p.Val1793Asp)
9g.115046431C>ACA374630562TNCc.318-4090G>T
c.3215-4090G>T (n.3215-4090G>T)
c.4015G>T (p.Val1339Phe)
c.2047G>T (p.Val683Phe)
c.703G>T (p.Val235Phe)
c.4062G>T
c.5104G>T (p.Val1702Phe)
c.4558G>T (p.Val1520Phe)
c.4307-4090G>T (n.4307-4090G>T)
n.253-4090G>T
n.40-4090G>T
c.791G>T
c.4831G>T (p.Val1611Phe)
c.4034-4090G>T (n.4034-4090G>T)
c.3466G>T (p.Val1156Phe)
c.5380G>T (p.Val1794Phe)
c.3488-4090G>T (n.3488-4090G>T)
c.5107G>T (p.Val1703Phe)
c.4561G>T (p.Val1521Phe)
c.4580-4090G>T (n.4580-4090G>T)
c.4288G>T (p.Val1430Phe)
c.3761-4090G>T (n.3761-4090G>T)
c.3739G>T (p.Val1247Phe)
c.5653G>T (p.Val1885Phe)
c.5377G>T (p.Val1793Phe)
9g.115046431C>GCA374630564TNCc.318-4090G>C
c.3215-4090G>C (n.3215-4090G>C)
c.4015G>C (p.Val1339Leu)
c.2047G>C (p.Val683Leu)
c.703G>C (p.Val235Leu)
c.4062G>C
c.5104G>C (p.Val1702Leu)
c.4558G>C (p.Val1520Leu)
c.4307-4090G>C (n.4307-4090G>C)
n.253-4090G>C
n.40-4090G>C
c.791G>C
c.4831G>C (p.Val1611Leu)
c.4034-4090G>C (n.4034-4090G>C)
c.3466G>C (p.Val1156Leu)
c.5380G>C (p.Val1794Leu)
c.3488-4090G>C (n.3488-4090G>C)
c.5107G>C (p.Val1703Leu)
c.4561G>C (p.Val1521Leu)
c.4580-4090G>C (n.4580-4090G>C)
c.4288G>C (p.Val1430Leu)
c.3761-4090G>C (n.3761-4090G>C)
c.3739G>C (p.Val1247Leu)
c.5653G>C (p.Val1885Leu)
c.5377G>C (p.Val1793Leu)
9g.115046431C>TCA374630565TNCc.318-4090G>A
c.3215-4090G>A (n.3215-4090G>A)
c.4015G>A (p.Val1339Ile)
c.2047G>A (p.Val683Ile)
c.703G>A (p.Val235Ile)
c.4062G>A
c.5104G>A (p.Val1702Ile)
c.4558G>A (p.Val1520Ile)
c.4307-4090G>A (n.4307-4090G>A)
n.253-4090G>A
n.40-4090G>A
c.791G>A
c.4831G>A (p.Val1611Ile)
c.4034-4090G>A (n.4034-4090G>A)
c.3466G>A (p.Val1156Ile)
c.5380G>A (p.Val1794Ile)
c.3488-4090G>A (n.3488-4090G>A)
c.5107G>A (p.Val1703Ile)
c.4561G>A (p.Val1521Ile)
c.4580-4090G>A (n.4580-4090G>A)
c.4288G>A (p.Val1430Ile)
c.3761-4090G>A (n.3761-4090G>A)
c.3739G>A (p.Val1247Ile)
c.5653G>A (p.Val1885Ile)
c.5377G>A (p.Val1793Ile)
9g.115046432T>ACA466912326TNCc.318-4091A>T
c.3215-4091A>T (n.3215-4091A>T)
c.4014A>T (p.Thr1338=)
c.2046A>T (p.Thr682=)
c.702A>T (p.Thr234=)
c.4061A>T
c.5103A>T (p.Thr1701=)
c.4557A>T (p.Thr1519=)
c.4307-4091A>T (n.4307-4091A>T)
n.253-4091A>T
n.40-4091A>T
c.790A>T
c.4830A>T (p.Thr1610=)
c.4034-4091A>T (n.4034-4091A>T)
c.3465A>T (p.Thr1155=)
c.5379A>T (p.Thr1793=)
c.3488-4091A>T (n.3488-4091A>T)
c.5106A>T (p.Thr1702=)
c.4560A>T (p.Thr1520=)
c.4580-4091A>T (n.4580-4091A>T)
c.4287A>T (p.Thr1429=)
c.3761-4091A>T (n.3761-4091A>T)
c.3738A>T (p.Thr1246=)
c.5652A>T (p.Thr1884=)
c.5376A>T (p.Thr1792=)
9g.115046432T>CCA466912327TNCc.318-4091A>G
c.3215-4091A>G (n.3215-4091A>G)
c.4014A>G (p.Thr1338=)
c.2046A>G (p.Thr682=)
c.702A>G (p.Thr234=)
c.4061A>G
c.5103A>G (p.Thr1701=)
c.4557A>G (p.Thr1519=)
c.4307-4091A>G (n.4307-4091A>G)
n.253-4091A>G
n.40-4091A>G
c.790A>G
c.4830A>G (p.Thr1610=)
c.4034-4091A>G (n.4034-4091A>G)
c.3465A>G (p.Thr1155=)
c.5379A>G (p.Thr1793=)
c.3488-4091A>G (n.3488-4091A>G)
c.5106A>G (p.Thr1702=)
c.4560A>G (p.Thr1520=)
c.4580-4091A>G (n.4580-4091A>G)
c.4287A>G (p.Thr1429=)
c.3761-4091A>G (n.3761-4091A>G)
c.3738A>G (p.Thr1246=)
c.5652A>G (p.Thr1884=)
c.5376A>G (p.Thr1792=)
9g.115046432T>GCA466912328TNCc.318-4091A>C
c.3215-4091A>C (n.3215-4091A>C)
c.4014A>C (p.Thr1338=)
c.2046A>C (p.Thr682=)
c.702A>C (p.Thr234=)
c.4061A>C
c.5103A>C (p.Thr1701=)
c.4557A>C (p.Thr1519=)
c.4307-4091A>C (n.4307-4091A>C)
n.253-4091A>C
n.40-4091A>C
c.790A>C
c.4830A>C (p.Thr1610=)
c.4034-4091A>C (n.4034-4091A>C)
c.3465A>C (p.Thr1155=)
c.5379A>C (p.Thr1793=)
c.3488-4091A>C (n.3488-4091A>C)
c.5106A>C (p.Thr1702=)
c.4560A>C (p.Thr1520=)
c.4580-4091A>C (n.4580-4091A>C)
c.4287A>C (p.Thr1429=)
c.3761-4091A>C (n.3761-4091A>C)
c.3738A>C (p.Thr1246=)
c.5652A>C (p.Thr1884=)
c.5376A>C (p.Thr1792=)
9g.115046433G>ACA5207757TNCc.318-4092C>T
c.3215-4092C>T (n.3215-4092C>T)
c.4013C>T (p.Thr1338Ile)
c.2045C>T (p.Thr682Ile)
c.701C>T (p.Thr234Ile)
c.4060C>T
c.5102C>T (p.Thr1701Ile)
c.4556C>T (p.Thr1519Ile)
c.4307-4092C>T (n.4307-4092C>T)
n.253-4092C>T
n.40-4092C>T
c.789C>T
c.4829C>T (p.Thr1610Ile)
c.4034-4092C>T (n.4034-4092C>T)
c.3464C>T (p.Thr1155Ile)
c.5378C>T (p.Thr1793Ile)
c.3488-4092C>T (n.3488-4092C>T)
c.5105C>T (p.Thr1702Ile)
c.4559C>T (p.Thr1520Ile)
c.4580-4092C>T (n.4580-4092C>T)
c.4286C>T (p.Thr1429Ile)
c.3761-4092C>T (n.3761-4092C>T)
c.3737C>T (p.Thr1246Ile)
c.5651C>T (p.Thr1884Ile)
c.5375C>T (p.Thr1792Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046433G>CCA374630567TNCc.318-4092C>G
c.3215-4092C>G (n.3215-4092C>G)
c.4013C>G (p.Thr1338Arg)
c.2045C>G (p.Thr682Arg)
c.701C>G (p.Thr234Arg)
c.4060C>G
c.5102C>G (p.Thr1701Arg)
c.4556C>G (p.Thr1519Arg)
c.4307-4092C>G (n.4307-4092C>G)
n.253-4092C>G
n.40-4092C>G
c.789C>G
c.4829C>G (p.Thr1610Arg)
c.4034-4092C>G (n.4034-4092C>G)
c.3464C>G (p.Thr1155Arg)
c.5378C>G (p.Thr1793Arg)
c.3488-4092C>G (n.3488-4092C>G)
c.5105C>G (p.Thr1702Arg)
c.4559C>G (p.Thr1520Arg)
c.4580-4092C>G (n.4580-4092C>G)
c.4286C>G (p.Thr1429Arg)
c.3761-4092C>G (n.3761-4092C>G)
c.3737C>G (p.Thr1246Arg)
c.5651C>G (p.Thr1884Arg)
c.5375C>G (p.Thr1792Arg)
9g.115046433G=CA1874118866TNCc.318-4092C=
c.3215-4092C= (n.3215-4092C=)
c.4013C= (p.Thr1338=)
c.2045C= (p.Thr682=)
c.701C= (p.Thr234=)
c.4060C=
c.5102C= (p.Thr1701=)
c.4556C= (p.Thr1519=)
c.4307-4092C= (n.4307-4092C=)
n.253-4092C=
n.40-4092C=
c.789C=
c.4829C= (p.Thr1610=)
c.4034-4092C= (n.4034-4092C=)
c.3464C= (p.Thr1155=)
c.5378C= (p.Thr1793=)
c.3488-4092C= (n.3488-4092C=)
c.5105C= (p.Thr1702=)
c.4559C= (p.Thr1520=)
c.4580-4092C= (n.4580-4092C=)
c.4286C= (p.Thr1429=)
c.3761-4092C= (n.3761-4092C=)
c.3737C= (p.Thr1246=)
c.5651C= (p.Thr1884=)
c.5375C= (p.Thr1792=)
9g.115046433G>TCA374630569TNCc.318-4092C>A
c.3215-4092C>A (n.3215-4092C>A)
c.4013C>A (p.Thr1338Lys)
c.2045C>A (p.Thr682Lys)
c.701C>A (p.Thr234Lys)
c.4060C>A
c.5102C>A (p.Thr1701Lys)
c.4556C>A (p.Thr1519Lys)
c.4307-4092C>A (n.4307-4092C>A)
n.253-4092C>A
n.40-4092C>A
c.789C>A
c.4829C>A (p.Thr1610Lys)
c.4034-4092C>A (n.4034-4092C>A)
c.3464C>A (p.Thr1155Lys)
c.5378C>A (p.Thr1793Lys)
c.3488-4092C>A (n.3488-4092C>A)
c.5105C>A (p.Thr1702Lys)
c.4559C>A (p.Thr1520Lys)
c.4580-4092C>A (n.4580-4092C>A)
c.4286C>A (p.Thr1429Lys)
c.3761-4092C>A (n.3761-4092C>A)
c.3737C>A (p.Thr1246Lys)
c.5651C>A (p.Thr1884Lys)
c.5375C>A (p.Thr1792Lys)
9g.115046434T>ACA374630573TNCc.318-4093A>T
c.3215-4093A>T (n.3215-4093A>T)
c.4012A>T (p.Thr1338Ser)
c.2044A>T (p.Thr682Ser)
c.700A>T (p.Thr234Ser)
c.4059A>T
c.5101A>T (p.Thr1701Ser)
c.4555A>T (p.Thr1519Ser)
c.4307-4093A>T (n.4307-4093A>T)
n.253-4093A>T
n.40-4093A>T
c.788A>T
c.4828A>T (p.Thr1610Ser)
c.4034-4093A>T (n.4034-4093A>T)
c.3463A>T (p.Thr1155Ser)
c.5377A>T (p.Thr1793Ser)
c.3488-4093A>T (n.3488-4093A>T)
c.5104A>T (p.Thr1702Ser)
c.4558A>T (p.Thr1520Ser)
c.4580-4093A>T (n.4580-4093A>T)
c.4285A>T (p.Thr1429Ser)
c.3761-4093A>T (n.3761-4093A>T)
c.3736A>T (p.Thr1246Ser)
c.5650A>T (p.Thr1884Ser)
c.5374A>T (p.Thr1792Ser)
9g.115046434T>CCA374630576TNCc.318-4093A>G
c.3215-4093A>G (n.3215-4093A>G)
c.4012A>G (p.Thr1338Ala)
c.2044A>G (p.Thr682Ala)
c.700A>G (p.Thr234Ala)
c.4059A>G
c.5101A>G (p.Thr1701Ala)
c.4555A>G (p.Thr1519Ala)
c.4307-4093A>G (n.4307-4093A>G)
n.253-4093A>G
n.40-4093A>G
c.788A>G
c.4828A>G (p.Thr1610Ala)
c.4034-4093A>G (n.4034-4093A>G)
c.3463A>G (p.Thr1155Ala)
c.5377A>G (p.Thr1793Ala)
c.3488-4093A>G (n.3488-4093A>G)
c.5104A>G (p.Thr1702Ala)
c.4558A>G (p.Thr1520Ala)
c.4580-4093A>G (n.4580-4093A>G)
c.4285A>G (p.Thr1429Ala)
c.3761-4093A>G (n.3761-4093A>G)
c.3736A>G (p.Thr1246Ala)
c.5650A>G (p.Thr1884Ala)
c.5374A>G (p.Thr1792Ala)
9g.115046434T>GCA374630574TNCc.318-4093A>C
c.3215-4093A>C (n.3215-4093A>C)
c.4012A>C (p.Thr1338Pro)
c.2044A>C (p.Thr682Pro)
c.700A>C (p.Thr234Pro)
c.4059A>C
c.5101A>C (p.Thr1701Pro)
c.4555A>C (p.Thr1519Pro)
c.4307-4093A>C (n.4307-4093A>C)
n.253-4093A>C
n.40-4093A>C
c.788A>C
c.4828A>C (p.Thr1610Pro)
c.4034-4093A>C (n.4034-4093A>C)
c.3463A>C (p.Thr1155Pro)
c.5377A>C (p.Thr1793Pro)
c.3488-4093A>C (n.3488-4093A>C)
c.5104A>C (p.Thr1702Pro)
c.4558A>C (p.Thr1520Pro)
c.4580-4093A>C (n.4580-4093A>C)
c.4285A>C (p.Thr1429Pro)
c.3761-4093A>C (n.3761-4093A>C)
c.3736A>C (p.Thr1246Pro)
c.5650A>C (p.Thr1884Pro)
c.5374A>C (p.Thr1792Pro)
 dbSNP gnomAD v4
9g.115046435C>ACA374630577TNCc.318-4094G>T
c.3215-4094G>T (n.3215-4094G>T)
c.4011G>T (p.Gln1337His)
c.2043G>T (p.Gln681His)
c.699G>T (p.Gln233His)
c.4058G>T
c.5100G>T (p.Gln1700His)
c.4554G>T (p.Gln1518His)
c.4307-4094G>T (n.4307-4094G>T)
n.253-4094G>T
n.40-4094G>T
c.787G>T
c.4827G>T (p.Gln1609His)
c.4034-4094G>T (n.4034-4094G>T)
c.3462G>T (p.Gln1154His)
c.5376G>T (p.Gln1792His)
c.3488-4094G>T (n.3488-4094G>T)
c.5103G>T (p.Gln1701His)
c.4557G>T (p.Gln1519His)
c.4580-4094G>T (n.4580-4094G>T)
c.4284G>T (p.Gln1428His)
c.3761-4094G>T (n.3761-4094G>T)
c.3735G>T (p.Gln1245His)
c.5649G>T (p.Gln1883His)
c.5373G>T (p.Gln1791His)
9g.115046435C=CA1874118867TNCc.318-4094G=
c.3215-4094G= (n.3215-4094G=)
c.4011G= (p.Gln1337=)
c.2043G= (p.Gln681=)
c.699G= (p.Gln233=)
c.4058G=
c.5100G= (p.Gln1700=)
c.4554G= (p.Gln1518=)
c.4307-4094G= (n.4307-4094G=)
n.253-4094G=
n.40-4094G=
c.787G=
c.4827G= (p.Gln1609=)
c.4034-4094G= (n.4034-4094G=)
c.3462G= (p.Gln1154=)
c.5376G= (p.Gln1792=)
c.3488-4094G= (n.3488-4094G=)
c.5103G= (p.Gln1701=)
c.4557G= (p.Gln1519=)
c.4580-4094G= (n.4580-4094G=)
c.4284G= (p.Gln1428=)
c.3761-4094G= (n.3761-4094G=)
c.3735G= (p.Gln1245=)
c.5649G= (p.Gln1883=)
c.5373G= (p.Gln1791=)
9g.115046435C>GCA374630579TNCc.318-4094G>C
c.3215-4094G>C (n.3215-4094G>C)
c.4011G>C (p.Gln1337His)
c.2043G>C (p.Gln681His)
c.699G>C (p.Gln233His)
c.4058G>C
c.5100G>C (p.Gln1700His)
c.4554G>C (p.Gln1518His)
c.4307-4094G>C (n.4307-4094G>C)
n.253-4094G>C
n.40-4094G>C
c.787G>C
c.4827G>C (p.Gln1609His)
c.4034-4094G>C (n.4034-4094G>C)
c.3462G>C (p.Gln1154His)
c.5376G>C (p.Gln1792His)
c.3488-4094G>C (n.3488-4094G>C)
c.5103G>C (p.Gln1701His)
c.4557G>C (p.Gln1519His)
c.4580-4094G>C (n.4580-4094G>C)
c.4284G>C (p.Gln1428His)
c.3761-4094G>C (n.3761-4094G>C)
c.3735G>C (p.Gln1245His)
c.5649G>C (p.Gln1883His)
c.5373G>C (p.Gln1791His)
9g.115046435C>TCA466912329TNCc.318-4094G>A
c.3215-4094G>A (n.3215-4094G>A)
c.4011G>A (p.Gln1337=)
c.2043G>A (p.Gln681=)
c.699G>A (p.Gln233=)
c.4058G>A
c.5100G>A (p.Gln1700=)
c.4554G>A (p.Gln1518=)
c.4307-4094G>A (n.4307-4094G>A)
n.253-4094G>A
n.40-4094G>A
c.787G>A
c.4827G>A (p.Gln1609=)
c.4034-4094G>A (n.4034-4094G>A)
c.3462G>A (p.Gln1154=)
c.5376G>A (p.Gln1792=)
c.3488-4094G>A (n.3488-4094G>A)
c.5103G>A (p.Gln1701=)
c.4557G>A (p.Gln1519=)
c.4580-4094G>A (n.4580-4094G>A)
c.4284G>A (p.Gln1428=)
c.3761-4094G>A (n.3761-4094G>A)
c.3735G>A (p.Gln1245=)
c.5649G>A (p.Gln1883=)
c.5373G>A (p.Gln1791=)
 dbSNP
9g.115046436T>ACA374630582TNCc.318-4095A>T
c.3215-4095A>T (n.3215-4095A>T)
c.4010A>T (p.Gln1337Leu)
c.2042A>T (p.Gln681Leu)
c.698A>T (p.Gln233Leu)
c.4057A>T
c.5099A>T (p.Gln1700Leu)
c.4553A>T (p.Gln1518Leu)
c.4307-4095A>T (n.4307-4095A>T)
n.253-4095A>T
n.40-4095A>T
c.786A>T
c.4826A>T (p.Gln1609Leu)
c.4034-4095A>T (n.4034-4095A>T)
c.3461A>T (p.Gln1154Leu)
c.5375A>T (p.Gln1792Leu)
c.3488-4095A>T (n.3488-4095A>T)
c.5102A>T (p.Gln1701Leu)
c.4556A>T (p.Gln1519Leu)
c.4580-4095A>T (n.4580-4095A>T)
c.4283A>T (p.Gln1428Leu)
c.3761-4095A>T (n.3761-4095A>T)
c.3734A>T (p.Gln1245Leu)
c.5648A>T (p.Gln1883Leu)
c.5372A>T (p.Gln1791Leu)
9g.115046436T>CCA374630584TNCc.318-4095A>G
c.3215-4095A>G (n.3215-4095A>G)
c.4010A>G (p.Gln1337Arg)
c.2042A>G (p.Gln681Arg)
c.698A>G (p.Gln233Arg)
c.4057A>G
c.5099A>G (p.Gln1700Arg)
c.4553A>G (p.Gln1518Arg)
c.4307-4095A>G (n.4307-4095A>G)
n.253-4095A>G
n.40-4095A>G
c.786A>G
c.4826A>G (p.Gln1609Arg)
c.4034-4095A>G (n.4034-4095A>G)
c.3461A>G (p.Gln1154Arg)
c.5375A>G (p.Gln1792Arg)
c.3488-4095A>G (n.3488-4095A>G)
c.5102A>G (p.Gln1701Arg)
c.4556A>G (p.Gln1519Arg)
c.4580-4095A>G (n.4580-4095A>G)
c.4283A>G (p.Gln1428Arg)
c.3761-4095A>G (n.3761-4095A>G)
c.3734A>G (p.Gln1245Arg)
c.5648A>G (p.Gln1883Arg)
c.5372A>G (p.Gln1791Arg)
9g.115046436T>GCA374630586TNCc.318-4095A>C
c.3215-4095A>C (n.3215-4095A>C)
c.4010A>C (p.Gln1337Pro)
c.2042A>C (p.Gln681Pro)
c.698A>C (p.Gln233Pro)
c.4057A>C
c.5099A>C (p.Gln1700Pro)
c.4553A>C (p.Gln1518Pro)
c.4307-4095A>C (n.4307-4095A>C)
n.253-4095A>C
n.40-4095A>C
c.786A>C
c.4826A>C (p.Gln1609Pro)
c.4034-4095A>C (n.4034-4095A>C)
c.3461A>C (p.Gln1154Pro)
c.5375A>C (p.Gln1792Pro)
c.3488-4095A>C (n.3488-4095A>C)
c.5102A>C (p.Gln1701Pro)
c.4556A>C (p.Gln1519Pro)
c.4580-4095A>C (n.4580-4095A>C)
c.4283A>C (p.Gln1428Pro)
c.3761-4095A>C (n.3761-4095A>C)
c.3734A>C (p.Gln1245Pro)
c.5648A>C (p.Gln1883Pro)
c.5372A>C (p.Gln1791Pro)
9g.115046437G>ACA374630587TNCc.318-4096C>T
c.3215-4096C>T (n.3215-4096C>T)
c.4009C>T (p.Gln1337Ter)
c.2041C>T (p.Gln681Ter)
c.697C>T (p.Gln233Ter)
c.4056C>T
c.5098C>T (p.Gln1700Ter)
c.4552C>T (p.Gln1518Ter)
c.4307-4096C>T (n.4307-4096C>T)
n.253-4096C>T
n.40-4096C>T
c.785C>T
c.4825C>T (p.Gln1609Ter)
c.4034-4096C>T (n.4034-4096C>T)
c.3460C>T (p.Gln1154Ter)
c.5374C>T (p.Gln1792Ter)
c.3488-4096C>T (n.3488-4096C>T)
c.5101C>T (p.Gln1701Ter)
c.4555C>T (p.Gln1519Ter)
c.4580-4096C>T (n.4580-4096C>T)
c.4282C>T (p.Gln1428Ter)
c.3761-4096C>T (n.3761-4096C>T)
c.3733C>T (p.Gln1245Ter)
c.5647C>T (p.Gln1883Ter)
c.5371C>T (p.Gln1791Ter)
9g.115046437G>CCA374630589TNCc.318-4096C>G
c.3215-4096C>G (n.3215-4096C>G)
c.4009C>G (p.Gln1337Glu)
c.2041C>G (p.Gln681Glu)
c.697C>G (p.Gln233Glu)
c.4056C>G
c.5098C>G (p.Gln1700Glu)
c.4552C>G (p.Gln1518Glu)
c.4307-4096C>G (n.4307-4096C>G)
n.253-4096C>G
n.40-4096C>G
c.785C>G
c.4825C>G (p.Gln1609Glu)
c.4034-4096C>G (n.4034-4096C>G)
c.3460C>G (p.Gln1154Glu)
c.5374C>G (p.Gln1792Glu)
c.3488-4096C>G (n.3488-4096C>G)
c.5101C>G (p.Gln1701Glu)
c.4555C>G (p.Gln1519Glu)
c.4580-4096C>G (n.4580-4096C>G)
c.4282C>G (p.Gln1428Glu)
c.3761-4096C>G (n.3761-4096C>G)
c.3733C>G (p.Gln1245Glu)
c.5647C>G (p.Gln1883Glu)
c.5371C>G (p.Gln1791Glu)
9g.115046437G>TCA374630591TNCc.318-4096C>A
c.3215-4096C>A (n.3215-4096C>A)
c.4009C>A (p.Gln1337Lys)
c.2041C>A (p.Gln681Lys)
c.697C>A (p.Gln233Lys)
c.4056C>A
c.5098C>A (p.Gln1700Lys)
c.4552C>A (p.Gln1518Lys)
c.4307-4096C>A (n.4307-4096C>A)
n.253-4096C>A
n.40-4096C>A
c.785C>A
c.4825C>A (p.Gln1609Lys)
c.4034-4096C>A (n.4034-4096C>A)
c.3460C>A (p.Gln1154Lys)
c.5374C>A (p.Gln1792Lys)
c.3488-4096C>A (n.3488-4096C>A)
c.5101C>A (p.Gln1701Lys)
c.4555C>A (p.Gln1519Lys)
c.4580-4096C>A (n.4580-4096C>A)
c.4282C>A (p.Gln1428Lys)
c.3761-4096C>A (n.3761-4096C>A)
c.3733C>A (p.Gln1245Lys)
c.5647C>A (p.Gln1883Lys)
c.5371C>A (p.Gln1791Lys)
9g.115046438G>ACA466912333TNCc.318-4097C>T
c.3215-4097C>T (n.3215-4097C>T)
c.4008C>T (p.Ser1336=)
c.2040C>T (p.Ser680=)
c.696C>T (p.Ser232=)
c.4055C>T
c.5097C>T (p.Ser1699=)
c.4551C>T (p.Ser1517=)
c.4307-4097C>T (n.4307-4097C>T)
n.253-4097C>T
n.40-4097C>T
c.784C>T
c.4824C>T (p.Ser1608=)
c.4034-4097C>T (n.4034-4097C>T)
c.3459C>T (p.Ser1153=)
c.5373C>T (p.Ser1791=)
c.3488-4097C>T (n.3488-4097C>T)
c.5100C>T (p.Ser1700=)
c.4554C>T (p.Ser1518=)
c.4580-4097C>T (n.4580-4097C>T)
c.4281C>T (p.Ser1427=)
c.3761-4097C>T (n.3761-4097C>T)
c.3732C>T (p.Ser1244=)
c.5646C>T (p.Ser1882=)
c.5370C>T (p.Ser1790=)
 dbSNP gnomAD v4
9g.115046438G>CCA466912334TNCc.318-4097C>G
c.3215-4097C>G (n.3215-4097C>G)
c.4008C>G (p.Ser1336=)
c.2040C>G (p.Ser680=)
c.696C>G (p.Ser232=)
c.4055C>G
c.5097C>G (p.Ser1699=)
c.4551C>G (p.Ser1517=)
c.4307-4097C>G (n.4307-4097C>G)
n.253-4097C>G
n.40-4097C>G
c.784C>G
c.4824C>G (p.Ser1608=)
c.4034-4097C>G (n.4034-4097C>G)
c.3459C>G (p.Ser1153=)
c.5373C>G (p.Ser1791=)
c.3488-4097C>G (n.3488-4097C>G)
c.5100C>G (p.Ser1700=)
c.4554C>G (p.Ser1518=)
c.4580-4097C>G (n.4580-4097C>G)
c.4281C>G (p.Ser1427=)
c.3761-4097C>G (n.3761-4097C>G)
c.3732C>G (p.Ser1244=)
c.5646C>G (p.Ser1882=)
c.5370C>G (p.Ser1790=)
9g.115046438G=CA1874118868TNCc.318-4097C=
c.3215-4097C= (n.3215-4097C=)
c.4008C= (p.Ser1336=)
c.2040C= (p.Ser680=)
c.696C= (p.Ser232=)
c.4055C=
c.5097C= (p.Ser1699=)
c.4551C= (p.Ser1517=)
c.4307-4097C= (n.4307-4097C=)
n.253-4097C=
n.40-4097C=
c.784C=
c.4824C= (p.Ser1608=)
c.4034-4097C= (n.4034-4097C=)
c.3459C= (p.Ser1153=)
c.5373C= (p.Ser1791=)
c.3488-4097C= (n.3488-4097C=)
c.5100C= (p.Ser1700=)
c.4554C= (p.Ser1518=)
c.4580-4097C= (n.4580-4097C=)
c.4281C= (p.Ser1427=)
c.3761-4097C= (n.3761-4097C=)
c.3732C= (p.Ser1244=)
c.5646C= (p.Ser1882=)
c.5370C= (p.Ser1790=)
9g.115046438G>TCA466912335TNCc.318-4097C>A
c.3215-4097C>A (n.3215-4097C>A)
c.4008C>A (p.Ser1336=)
c.2040C>A (p.Ser680=)
c.696C>A (p.Ser232=)
c.4055C>A
c.5097C>A (p.Ser1699=)
c.4551C>A (p.Ser1517=)
c.4307-4097C>A (n.4307-4097C>A)
n.253-4097C>A
n.40-4097C>A
c.784C>A
c.4824C>A (p.Ser1608=)
c.4034-4097C>A (n.4034-4097C>A)
c.3459C>A (p.Ser1153=)
c.5373C>A (p.Ser1791=)
c.3488-4097C>A (n.3488-4097C>A)
c.5100C>A (p.Ser1700=)
c.4554C>A (p.Ser1518=)
c.4580-4097C>A (n.4580-4097C>A)
c.4281C>A (p.Ser1427=)
c.3761-4097C>A (n.3761-4097C>A)
c.3732C>A (p.Ser1244=)
c.5646C>A (p.Ser1882=)
c.5370C>A (p.Ser1790=)
9g.115046439G>ACA374630593TNCc.318-4098C>T
c.3215-4098C>T (n.3215-4098C>T)
c.4007C>T (p.Ser1336Phe)
c.2039C>T (p.Ser680Phe)
c.695C>T (p.Ser232Phe)
c.4054C>T
c.5096C>T (p.Ser1699Phe)
c.4550C>T (p.Ser1517Phe)
c.4307-4098C>T (n.4307-4098C>T)
n.253-4098C>T
n.40-4098C>T
c.783C>T
c.4823C>T (p.Ser1608Phe)
c.4034-4098C>T (n.4034-4098C>T)
c.3458C>T (p.Ser1153Phe)
c.5372C>T (p.Ser1791Phe)
c.3488-4098C>T (n.3488-4098C>T)
c.5099C>T (p.Ser1700Phe)
c.4553C>T (p.Ser1518Phe)
c.4580-4098C>T (n.4580-4098C>T)
c.4280C>T (p.Ser1427Phe)
c.3761-4098C>T (n.3761-4098C>T)
c.3731C>T (p.Ser1244Phe)
c.5645C>T (p.Ser1882Phe)
c.5369C>T (p.Ser1790Phe)
9g.115046439G>CCA374630594TNCc.318-4098C>G
c.3215-4098C>G (n.3215-4098C>G)
c.4007C>G (p.Ser1336Cys)
c.2039C>G (p.Ser680Cys)
c.695C>G (p.Ser232Cys)
c.4054C>G
c.5096C>G (p.Ser1699Cys)
c.4550C>G (p.Ser1517Cys)
c.4307-4098C>G (n.4307-4098C>G)
n.253-4098C>G
n.40-4098C>G
c.783C>G
c.4823C>G (p.Ser1608Cys)
c.4034-4098C>G (n.4034-4098C>G)
c.3458C>G (p.Ser1153Cys)
c.5372C>G (p.Ser1791Cys)
c.3488-4098C>G (n.3488-4098C>G)
c.5099C>G (p.Ser1700Cys)
c.4553C>G (p.Ser1518Cys)
c.4580-4098C>G (n.4580-4098C>G)
c.4280C>G (p.Ser1427Cys)
c.3761-4098C>G (n.3761-4098C>G)
c.3731C>G (p.Ser1244Cys)
c.5645C>G (p.Ser1882Cys)
c.5369C>G (p.Ser1790Cys)
 dbSNP gnomAD v4
9g.115046439G=CA1874118869TNCc.318-4098C=
c.3215-4098C= (n.3215-4098C=)
c.4007C= (p.Ser1336=)
c.2039C= (p.Ser680=)
c.695C= (p.Ser232=)
c.4054C=
c.5096C= (p.Ser1699=)
c.4550C= (p.Ser1517=)
c.4307-4098C= (n.4307-4098C=)
n.253-4098C=
n.40-4098C=
c.783C=
c.4823C= (p.Ser1608=)
c.4034-4098C= (n.4034-4098C=)
c.3458C= (p.Ser1153=)
c.5372C= (p.Ser1791=)
c.3488-4098C= (n.3488-4098C=)
c.5099C= (p.Ser1700=)
c.4553C= (p.Ser1518=)
c.4580-4098C= (n.4580-4098C=)
c.4280C= (p.Ser1427=)
c.3761-4098C= (n.3761-4098C=)
c.3731C= (p.Ser1244=)
c.5645C= (p.Ser1882=)
c.5369C= (p.Ser1790=)
9g.115046439G>TCA374630596TNCc.318-4098C>A
c.3215-4098C>A (n.3215-4098C>A)
c.4007C>A (p.Ser1336Tyr)
c.2039C>A (p.Ser680Tyr)
c.695C>A (p.Ser232Tyr)
c.4054C>A
c.5096C>A (p.Ser1699Tyr)
c.4550C>A (p.Ser1517Tyr)
c.4307-4098C>A (n.4307-4098C>A)
n.253-4098C>A
n.40-4098C>A
c.783C>A
c.4823C>A (p.Ser1608Tyr)
c.4034-4098C>A (n.4034-4098C>A)
c.3458C>A (p.Ser1153Tyr)
c.5372C>A (p.Ser1791Tyr)
c.3488-4098C>A (n.3488-4098C>A)
c.5099C>A (p.Ser1700Tyr)
c.4553C>A (p.Ser1518Tyr)
c.4580-4098C>A (n.4580-4098C>A)
c.4280C>A (p.Ser1427Tyr)
c.3761-4098C>A (n.3761-4098C>A)
c.3731C>A (p.Ser1244Tyr)
c.5645C>A (p.Ser1882Tyr)
c.5369C>A (p.Ser1790Tyr)
 dbSNP gnomAD v4
9g.115046440A>CCA374630600TNCc.318-4099T>G
c.3215-4099T>G (n.3215-4099T>G)
c.4006T>G (p.Ser1336Ala)
c.2038T>G (p.Ser680Ala)
c.694T>G (p.Ser232Ala)
c.4053T>G
c.5095T>G (p.Ser1699Ala)
c.4549T>G (p.Ser1517Ala)
c.4307-4099T>G (n.4307-4099T>G)
n.253-4099T>G
n.40-4099T>G
c.782T>G
c.4822T>G (p.Ser1608Ala)
c.4034-4099T>G (n.4034-4099T>G)
c.3457T>G (p.Ser1153Ala)
c.5371T>G (p.Ser1791Ala)
c.3488-4099T>G (n.3488-4099T>G)
c.5098T>G (p.Ser1700Ala)
c.4552T>G (p.Ser1518Ala)
c.4580-4099T>G (n.4580-4099T>G)
c.4279T>G (p.Ser1427Ala)
c.3761-4099T>G (n.3761-4099T>G)
c.3730T>G (p.Ser1244Ala)
c.5644T>G (p.Ser1882Ala)
c.5368T>G (p.Ser1790Ala)
9g.115046440A>GCA374630599TNCc.318-4099T>C
c.3215-4099T>C (n.3215-4099T>C)
c.4006T>C (p.Ser1336Pro)
c.2038T>C (p.Ser680Pro)
c.694T>C (p.Ser232Pro)
c.4053T>C
c.5095T>C (p.Ser1699Pro)
c.4549T>C (p.Ser1517Pro)
c.4307-4099T>C (n.4307-4099T>C)
n.253-4099T>C
n.40-4099T>C
c.782T>C
c.4822T>C (p.Ser1608Pro)
c.4034-4099T>C (n.4034-4099T>C)
c.3457T>C (p.Ser1153Pro)
c.5371T>C (p.Ser1791Pro)
c.3488-4099T>C (n.3488-4099T>C)
c.5098T>C (p.Ser1700Pro)
c.4552T>C (p.Ser1518Pro)
c.4580-4099T>C (n.4580-4099T>C)
c.4279T>C (p.Ser1427Pro)
c.3761-4099T>C (n.3761-4099T>C)
c.3730T>C (p.Ser1244Pro)
c.5644T>C (p.Ser1882Pro)
c.5368T>C (p.Ser1790Pro)
 gnomAD v4
9g.115046440A>TCA374630598TNCc.318-4099T>A
c.3215-4099T>A (n.3215-4099T>A)
c.4006T>A (p.Ser1336Thr)
c.2038T>A (p.Ser680Thr)
c.694T>A (p.Ser232Thr)
c.4053T>A
c.5095T>A (p.Ser1699Thr)
c.4549T>A (p.Ser1517Thr)
c.4307-4099T>A (n.4307-4099T>A)
n.253-4099T>A
n.40-4099T>A
c.782T>A
c.4822T>A (p.Ser1608Thr)
c.4034-4099T>A (n.4034-4099T>A)
c.3457T>A (p.Ser1153Thr)
c.5371T>A (p.Ser1791Thr)
c.3488-4099T>A (n.3488-4099T>A)
c.5098T>A (p.Ser1700Thr)
c.4552T>A (p.Ser1518Thr)
c.4580-4099T>A (n.4580-4099T>A)
c.4279T>A (p.Ser1427Thr)
c.3761-4099T>A (n.3761-4099T>A)
c.3730T>A (p.Ser1244Thr)
c.5644T>A (p.Ser1882Thr)
c.5368T>A (p.Ser1790Thr)
9g.115046441T>ACA466912337TNCc.318-4100A>T
c.3215-4100A>T (n.3215-4100A>T)
c.4005A>T (p.Arg1335=)
c.2037A>T (p.Arg679=)
c.693A>T (p.Arg231=)
c.4052A>T
c.5094A>T (p.Arg1698=)
c.4548A>T (p.Arg1516=)
c.4307-4100A>T (n.4307-4100A>T)
n.253-4100A>T
n.40-4100A>T
c.781A>T
c.4821A>T (p.Arg1607=)
c.4034-4100A>T (n.4034-4100A>T)
c.3456A>T (p.Arg1152=)
c.5370A>T (p.Arg1790=)
c.3488-4100A>T (n.3488-4100A>T)
c.5097A>T (p.Arg1699=)
c.4551A>T (p.Arg1517=)
c.4580-4100A>T (n.4580-4100A>T)
c.4278A>T (p.Arg1426=)
c.3761-4100A>T (n.3761-4100A>T)
c.3729A>T (p.Arg1243=)
c.5643A>T (p.Arg1881=)
c.5367A>T (p.Arg1789=)
9g.115046441T>CCA466912338TNCc.318-4100A>G
c.3215-4100A>G (n.3215-4100A>G)
c.4005A>G (p.Arg1335=)
c.2037A>G (p.Arg679=)
c.693A>G (p.Arg231=)
c.4052A>G
c.5094A>G (p.Arg1698=)
c.4548A>G (p.Arg1516=)
c.4307-4100A>G (n.4307-4100A>G)
n.253-4100A>G
n.40-4100A>G
c.781A>G
c.4821A>G (p.Arg1607=)
c.4034-4100A>G (n.4034-4100A>G)
c.3456A>G (p.Arg1152=)
c.5370A>G (p.Arg1790=)
c.3488-4100A>G (n.3488-4100A>G)
c.5097A>G (p.Arg1699=)
c.4551A>G (p.Arg1517=)
c.4580-4100A>G (n.4580-4100A>G)
c.4278A>G (p.Arg1426=)
c.3761-4100A>G (n.3761-4100A>G)
c.3729A>G (p.Arg1243=)
c.5643A>G (p.Arg1881=)
c.5367A>G (p.Arg1789=)
9g.115046441T>GCA466912339TNCc.318-4100A>C
c.3215-4100A>C (n.3215-4100A>C)
c.4005A>C (p.Arg1335=)
c.2037A>C (p.Arg679=)
c.693A>C (p.Arg231=)
c.4052A>C
c.5094A>C (p.Arg1698=)
c.4548A>C (p.Arg1516=)
c.4307-4100A>C (n.4307-4100A>C)
n.253-4100A>C
n.40-4100A>C
c.781A>C
c.4821A>C (p.Arg1607=)
c.4034-4100A>C (n.4034-4100A>C)
c.3456A>C (p.Arg1152=)
c.5370A>C (p.Arg1790=)
c.3488-4100A>C (n.3488-4100A>C)
c.5097A>C (p.Arg1699=)
c.4551A>C (p.Arg1517=)
c.4580-4100A>C (n.4580-4100A>C)
c.4278A>C (p.Arg1426=)
c.3761-4100A>C (n.3761-4100A>C)
c.3729A>C (p.Arg1243=)
c.5643A>C (p.Arg1881=)
c.5367A>C (p.Arg1789=)
9g.115046442C>ACA374630601TNCc.318-4101G>T
c.3215-4101G>T (n.3215-4101G>T)
c.4004G>T (p.Arg1335Leu)
c.2036G>T (p.Arg679Leu)
c.692G>T (p.Arg231Leu)
c.4051G>T
c.5093G>T (p.Arg1698Leu)
c.4547G>T (p.Arg1516Leu)
c.4307-4101G>T (n.4307-4101G>T)
n.253-4101G>T
n.40-4101G>T
c.780G>T
c.4820G>T (p.Arg1607Leu)
c.4034-4101G>T (n.4034-4101G>T)
c.3455G>T (p.Arg1152Leu)
c.5369G>T (p.Arg1790Leu)
c.3488-4101G>T (n.3488-4101G>T)
c.5096G>T (p.Arg1699Leu)
c.4550G>T (p.Arg1517Leu)
c.4580-4101G>T (n.4580-4101G>T)
c.4277G>T (p.Arg1426Leu)
c.3761-4101G>T (n.3761-4101G>T)
c.3728G>T (p.Arg1243Leu)
c.5642G>T (p.Arg1881Leu)
c.5366G>T (p.Arg1789Leu)
 gnomAD v4
9g.115046442C=CA1874118870TNCc.318-4101G=
c.3215-4101G= (n.3215-4101G=)
c.4004G= (p.Arg1335=)
c.2036G= (p.Arg679=)
c.692G= (p.Arg231=)
c.4051G=
c.5093G= (p.Arg1698=)
c.4547G= (p.Arg1516=)
c.4307-4101G= (n.4307-4101G=)
n.253-4101G=
n.40-4101G=
c.780G=
c.4820G= (p.Arg1607=)
c.4034-4101G= (n.4034-4101G=)
c.3455G= (p.Arg1152=)
c.5369G= (p.Arg1790=)
c.3488-4101G= (n.3488-4101G=)
c.5096G= (p.Arg1699=)
c.4550G= (p.Arg1517=)
c.4580-4101G= (n.4580-4101G=)
c.4277G= (p.Arg1426=)
c.3761-4101G= (n.3761-4101G=)
c.3728G= (p.Arg1243=)
c.5642G= (p.Arg1881=)
c.5366G= (p.Arg1789=)
9g.115046442C>GCA5207759TNCc.318-4101G>C
c.3215-4101G>C (n.3215-4101G>C)
c.4004G>C (p.Arg1335Pro)
c.2036G>C (p.Arg679Pro)
c.692G>C (p.Arg231Pro)
c.4051G>C
c.5093G>C (p.Arg1698Pro)
c.4547G>C (p.Arg1516Pro)
c.4307-4101G>C (n.4307-4101G>C)
n.253-4101G>C
n.40-4101G>C
c.780G>C
c.4820G>C (p.Arg1607Pro)
c.4034-4101G>C (n.4034-4101G>C)
c.3455G>C (p.Arg1152Pro)
c.5369G>C (p.Arg1790Pro)
c.3488-4101G>C (n.3488-4101G>C)
c.5096G>C (p.Arg1699Pro)
c.4550G>C (p.Arg1517Pro)
c.4580-4101G>C (n.4580-4101G>C)
c.4277G>C (p.Arg1426Pro)
c.3761-4101G>C (n.3761-4101G>C)
c.3728G>C (p.Arg1243Pro)
c.5642G>C (p.Arg1881Pro)
c.5366G>C (p.Arg1789Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046442C>TCA5207758TNCc.318-4101G>A
c.3215-4101G>A (n.3215-4101G>A)
c.4004G>A (p.Arg1335Gln)
c.2036G>A (p.Arg679Gln)
c.692G>A (p.Arg231Gln)
c.4051G>A
c.5093G>A (p.Arg1698Gln)
c.4547G>A (p.Arg1516Gln)
c.4307-4101G>A (n.4307-4101G>A)
n.253-4101G>A
n.40-4101G>A
c.780G>A
c.4820G>A (p.Arg1607Gln)
c.4034-4101G>A (n.4034-4101G>A)
c.3455G>A (p.Arg1152Gln)
c.5369G>A (p.Arg1790Gln)
c.3488-4101G>A (n.3488-4101G>A)
c.5096G>A (p.Arg1699Gln)
c.4550G>A (p.Arg1517Gln)
c.4580-4101G>A (n.4580-4101G>A)
c.4277G>A (p.Arg1426Gln)
c.3761-4101G>A (n.3761-4101G>A)
c.3728G>A (p.Arg1243Gln)
c.5642G>A (p.Arg1881Gln)
c.5366G>A (p.Arg1789Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046443G>ACA374630605TNCc.318-4102C>T
c.3215-4102C>T (n.3215-4102C>T)
c.4003C>T (p.Arg1335Ter)
c.2035C>T (p.Arg679Ter)
c.691C>T (p.Arg231Ter)
c.4050C>T
c.5092C>T (p.Arg1698Ter)
c.4546C>T (p.Arg1516Ter)
c.4307-4102C>T (n.4307-4102C>T)
n.253-4102C>T
n.40-4102C>T
c.779C>T
c.4819C>T (p.Arg1607Ter)
c.4034-4102C>T (n.4034-4102C>T)
c.3454C>T (p.Arg1152Ter)
c.5368C>T (p.Arg1790Ter)
c.3488-4102C>T (n.3488-4102C>T)
c.5095C>T (p.Arg1699Ter)
c.4549C>T (p.Arg1517Ter)
c.4580-4102C>T (n.4580-4102C>T)
c.4276C>T (p.Arg1426Ter)
c.3761-4102C>T (n.3761-4102C>T)
c.3727C>T (p.Arg1243Ter)
c.5641C>T (p.Arg1881Ter)
c.5365C>T (p.Arg1789Ter)
 dbSNP gnomAD v4
9g.115046443G>CCA374630607TNCc.318-4102C>G
c.3215-4102C>G (n.3215-4102C>G)
c.4003C>G (p.Arg1335Gly)
c.2035C>G (p.Arg679Gly)
c.691C>G (p.Arg231Gly)
c.4050C>G
c.5092C>G (p.Arg1698Gly)
c.4546C>G (p.Arg1516Gly)
c.4307-4102C>G (n.4307-4102C>G)
n.253-4102C>G
n.40-4102C>G
c.779C>G
c.4819C>G (p.Arg1607Gly)
c.4034-4102C>G (n.4034-4102C>G)
c.3454C>G (p.Arg1152Gly)
c.5368C>G (p.Arg1790Gly)
c.3488-4102C>G (n.3488-4102C>G)
c.5095C>G (p.Arg1699Gly)
c.4549C>G (p.Arg1517Gly)
c.4580-4102C>G (n.4580-4102C>G)
c.4276C>G (p.Arg1426Gly)
c.3761-4102C>G (n.3761-4102C>G)
c.3727C>G (p.Arg1243Gly)
c.5641C>G (p.Arg1881Gly)
c.5365C>G (p.Arg1789Gly)
9g.115046443G=CA1874118871TNCc.318-4102C=
c.3215-4102C= (n.3215-4102C=)
c.4003C= (p.Arg1335=)
c.2035C= (p.Arg679=)
c.691C= (p.Arg231=)
c.4050C=
c.5092C= (p.Arg1698=)
c.4546C= (p.Arg1516=)
c.4307-4102C= (n.4307-4102C=)
n.253-4102C=
n.40-4102C=
c.779C=
c.4819C= (p.Arg1607=)
c.4034-4102C= (n.4034-4102C=)
c.3454C= (p.Arg1152=)
c.5368C= (p.Arg1790=)
c.3488-4102C= (n.3488-4102C=)
c.5095C= (p.Arg1699=)
c.4549C= (p.Arg1517=)
c.4580-4102C= (n.4580-4102C=)
c.4276C= (p.Arg1426=)
c.3761-4102C= (n.3761-4102C=)
c.3727C= (p.Arg1243=)
c.5641C= (p.Arg1881=)
c.5365C= (p.Arg1789=)
9g.115046443G>TCA466912340TNCc.318-4102C>A
c.3215-4102C>A (n.3215-4102C>A)
c.4003C>A (p.Arg1335=)
c.2035C>A (p.Arg679=)
c.691C>A (p.Arg231=)
c.4050C>A
c.5092C>A (p.Arg1698=)
c.4546C>A (p.Arg1516=)
c.4307-4102C>A (n.4307-4102C>A)
n.253-4102C>A
n.40-4102C>A
c.779C>A
c.4819C>A (p.Arg1607=)
c.4034-4102C>A (n.4034-4102C>A)
c.3454C>A (p.Arg1152=)
c.5368C>A (p.Arg1790=)
c.3488-4102C>A (n.3488-4102C>A)
c.5095C>A (p.Arg1699=)
c.4549C>A (p.Arg1517=)
c.4580-4102C>A (n.4580-4102C>A)
c.4276C>A (p.Arg1426=)
c.3761-4102C>A (n.3761-4102C>A)
c.3727C>A (p.Arg1243=)
c.5641C>A (p.Arg1881=)
c.5365C>A (p.Arg1789=)
9g.115046444C>ACA374630609TNCc.318-4103G>T
c.3215-4103G>T (n.3215-4103G>T)
c.4002G>T (p.Arg1334Ser)
c.2034G>T (p.Arg678Ser)
c.690G>T (p.Arg230Ser)
c.4049G>T
c.5091G>T (p.Arg1697Ser)
c.4545G>T (p.Arg1515Ser)
c.4307-4103G>T (n.4307-4103G>T)
n.253-4103G>T
n.40-4103G>T
c.778G>T
c.4818G>T (p.Arg1606Ser)
c.4034-4103G>T (n.4034-4103G>T)
c.3453G>T (p.Arg1151Ser)
c.5367G>T (p.Arg1789Ser)
c.3488-4103G>T (n.3488-4103G>T)
c.5094G>T (p.Arg1698Ser)
c.4548G>T (p.Arg1516Ser)
c.4580-4103G>T (n.4580-4103G>T)
c.4275G>T (p.Arg1425Ser)
c.3761-4103G>T (n.3761-4103G>T)
c.3726G>T (p.Arg1242Ser)
c.5640G>T (p.Arg1880Ser)
c.5364G>T (p.Arg1788Ser)
9g.115046444C>GCA374630610TNCc.318-4103G>C
c.3215-4103G>C (n.3215-4103G>C)
c.4002G>C (p.Arg1334Ser)
c.2034G>C (p.Arg678Ser)
c.690G>C (p.Arg230Ser)
c.4049G>C
c.5091G>C (p.Arg1697Ser)
c.4545G>C (p.Arg1515Ser)
c.4307-4103G>C (n.4307-4103G>C)
n.253-4103G>C
n.40-4103G>C
c.778G>C
c.4818G>C (p.Arg1606Ser)
c.4034-4103G>C (n.4034-4103G>C)
c.3453G>C (p.Arg1151Ser)
c.5367G>C (p.Arg1789Ser)
c.3488-4103G>C (n.3488-4103G>C)
c.5094G>C (p.Arg1698Ser)
c.4548G>C (p.Arg1516Ser)
c.4580-4103G>C (n.4580-4103G>C)
c.4275G>C (p.Arg1425Ser)
c.3761-4103G>C (n.3761-4103G>C)
c.3726G>C (p.Arg1242Ser)
c.5640G>C (p.Arg1880Ser)
c.5364G>C (p.Arg1788Ser)
9g.115046444C>TCA466912344TNCc.318-4103G>A
c.3215-4103G>A (n.3215-4103G>A)
c.4002G>A (p.Arg1334=)
c.2034G>A (p.Arg678=)
c.690G>A (p.Arg230=)
c.4049G>A
c.5091G>A (p.Arg1697=)
c.4545G>A (p.Arg1515=)
c.4307-4103G>A (n.4307-4103G>A)
n.253-4103G>A
n.40-4103G>A
c.778G>A
c.4818G>A (p.Arg1606=)
c.4034-4103G>A (n.4034-4103G>A)
c.3453G>A (p.Arg1151=)
c.5367G>A (p.Arg1789=)
c.3488-4103G>A (n.3488-4103G>A)
c.5094G>A (p.Arg1698=)
c.4548G>A (p.Arg1516=)
c.4580-4103G>A (n.4580-4103G>A)
c.4275G>A (p.Arg1425=)
c.3761-4103G>A (n.3761-4103G>A)
c.3726G>A (p.Arg1242=)
c.5640G>A (p.Arg1880=)
c.5364G>A (p.Arg1788=)
9g.115046445C>ACA374630611TNCc.318-4104G>T
c.3215-4104G>T (n.3215-4104G>T)
c.4001G>T (p.Arg1334Met)
c.2033G>T (p.Arg678Met)
c.689G>T (p.Arg230Met)
c.4048G>T
c.5090G>T (p.Arg1697Met)
c.4544G>T (p.Arg1515Met)
c.4307-4104G>T (n.4307-4104G>T)
n.253-4104G>T
n.40-4104G>T
c.777G>T
c.4817G>T (p.Arg1606Met)
c.4034-4104G>T (n.4034-4104G>T)
c.3452G>T (p.Arg1151Met)
c.5366G>T (p.Arg1789Met)
c.3488-4104G>T (n.3488-4104G>T)
c.5093G>T (p.Arg1698Met)
c.4547G>T (p.Arg1516Met)
c.4580-4104G>T (n.4580-4104G>T)
c.4274G>T (p.Arg1425Met)
c.3761-4104G>T (n.3761-4104G>T)
c.3725G>T (p.Arg1242Met)
c.5639G>T (p.Arg1880Met)
c.5363G>T (p.Arg1788Met)
9g.115046445C>GCA374630612TNCc.318-4104G>C
c.3215-4104G>C (n.3215-4104G>C)
c.4001G>C (p.Arg1334Thr)
c.2033G>C (p.Arg678Thr)
c.689G>C (p.Arg230Thr)
c.4048G>C
c.5090G>C (p.Arg1697Thr)
c.4544G>C (p.Arg1515Thr)
c.4307-4104G>C (n.4307-4104G>C)
n.253-4104G>C
n.40-4104G>C
c.777G>C
c.4817G>C (p.Arg1606Thr)
c.4034-4104G>C (n.4034-4104G>C)
c.3452G>C (p.Arg1151Thr)
c.5366G>C (p.Arg1789Thr)
c.3488-4104G>C (n.3488-4104G>C)
c.5093G>C (p.Arg1698Thr)
c.4547G>C (p.Arg1516Thr)
c.4580-4104G>C (n.4580-4104G>C)
c.4274G>C (p.Arg1425Thr)
c.3761-4104G>C (n.3761-4104G>C)
c.3725G>C (p.Arg1242Thr)
c.5639G>C (p.Arg1880Thr)
c.5363G>C (p.Arg1788Thr)
9g.115046445C>TCA374630614TNCc.318-4104G>A
c.3215-4104G>A (n.3215-4104G>A)
c.4001G>A (p.Arg1334Lys)
c.2033G>A (p.Arg678Lys)
c.689G>A (p.Arg230Lys)
c.4048G>A
c.5090G>A (p.Arg1697Lys)
c.4544G>A (p.Arg1515Lys)
c.4307-4104G>A (n.4307-4104G>A)
n.253-4104G>A
n.40-4104G>A
c.777G>A
c.4817G>A (p.Arg1606Lys)
c.4034-4104G>A (n.4034-4104G>A)
c.3452G>A (p.Arg1151Lys)
c.5366G>A (p.Arg1789Lys)
c.3488-4104G>A (n.3488-4104G>A)
c.5093G>A (p.Arg1698Lys)
c.4547G>A (p.Arg1516Lys)
c.4580-4104G>A (n.4580-4104G>A)
c.4274G>A (p.Arg1425Lys)
c.3761-4104G>A (n.3761-4104G>A)
c.3725G>A (p.Arg1242Lys)
c.5639G>A (p.Arg1880Lys)
c.5363G>A (p.Arg1788Lys)
9g.115046446T>ACA374630616TNCc.318-4105A>T
c.3215-4105A>T (n.3215-4105A>T)
c.4000A>T (p.Arg1334Trp)
c.2032A>T (p.Arg678Trp)
c.688A>T (p.Arg230Trp)
c.4047A>T
c.5089A>T (p.Arg1697Trp)
c.4543A>T (p.Arg1515Trp)
c.4307-4105A>T (n.4307-4105A>T)
n.253-4105A>T
n.40-4105A>T
c.776A>T
c.4816A>T (p.Arg1606Trp)
c.4034-4105A>T (n.4034-4105A>T)
c.3451A>T (p.Arg1151Trp)
c.5365A>T (p.Arg1789Trp)
c.3488-4105A>T (n.3488-4105A>T)
c.5092A>T (p.Arg1698Trp)
c.4546A>T (p.Arg1516Trp)
c.4580-4105A>T (n.4580-4105A>T)
c.4273A>T (p.Arg1425Trp)
c.3761-4105A>T (n.3761-4105A>T)
c.3724A>T (p.Arg1242Trp)
c.5638A>T (p.Arg1880Trp)
c.5362A>T (p.Arg1788Trp)
 dbSNP gnomAD v2 gnomAD v4
9g.115046446T>CCA374630618TNCc.318-4105A>G
c.3215-4105A>G (n.3215-4105A>G)
c.4000A>G (p.Arg1334Gly)
c.2032A>G (p.Arg678Gly)
c.688A>G (p.Arg230Gly)
c.4047A>G
c.5089A>G (p.Arg1697Gly)
c.4543A>G (p.Arg1515Gly)
c.4307-4105A>G (n.4307-4105A>G)
n.253-4105A>G
n.40-4105A>G
c.776A>G
c.4816A>G (p.Arg1606Gly)
c.4034-4105A>G (n.4034-4105A>G)
c.3451A>G (p.Arg1151Gly)
c.5365A>G (p.Arg1789Gly)
c.3488-4105A>G (n.3488-4105A>G)
c.5092A>G (p.Arg1698Gly)
c.4546A>G (p.Arg1516Gly)
c.4580-4105A>G (n.4580-4105A>G)
c.4273A>G (p.Arg1425Gly)
c.3761-4105A>G (n.3761-4105A>G)
c.3724A>G (p.Arg1242Gly)
c.5638A>G (p.Arg1880Gly)
c.5362A>G (p.Arg1788Gly)
 gnomAD v4
9g.115046446T>GCA466912345TNCc.318-4105A>C
c.3215-4105A>C (n.3215-4105A>C)
c.4000A>C (p.Arg1334=)
c.2032A>C (p.Arg678=)
c.688A>C (p.Arg230=)
c.4047A>C
c.5089A>C (p.Arg1697=)
c.4543A>C (p.Arg1515=)
c.4307-4105A>C (n.4307-4105A>C)
n.253-4105A>C
n.40-4105A>C
c.776A>C
c.4816A>C (p.Arg1606=)
c.4034-4105A>C (n.4034-4105A>C)
c.3451A>C (p.Arg1151=)
c.5365A>C (p.Arg1789=)
c.3488-4105A>C (n.3488-4105A>C)
c.5092A>C (p.Arg1698=)
c.4546A>C (p.Arg1516=)
c.4580-4105A>C (n.4580-4105A>C)
c.4273A>C (p.Arg1425=)
c.3761-4105A>C (n.3761-4105A>C)
c.3724A>C (p.Arg1242=)
c.5638A>C (p.Arg1880=)
c.5362A>C (p.Arg1788=)
9g.115046446T=CA1874118872TNCc.318-4105A=
c.3215-4105A= (n.3215-4105A=)
c.4000A= (p.Arg1334=)
c.2032A= (p.Arg678=)
c.688A= (p.Arg230=)
c.4047A=
c.5089A= (p.Arg1697=)
c.4543A= (p.Arg1515=)
c.4307-4105A= (n.4307-4105A=)
n.253-4105A=
n.40-4105A=
c.776A=
c.4816A= (p.Arg1606=)
c.4034-4105A= (n.4034-4105A=)
c.3451A= (p.Arg1151=)
c.5365A= (p.Arg1789=)
c.3488-4105A= (n.3488-4105A=)
c.5092A= (p.Arg1698=)
c.4546A= (p.Arg1516=)
c.4580-4105A= (n.4580-4105A=)
c.4273A= (p.Arg1425=)
c.3761-4105A= (n.3761-4105A=)
c.3724A= (p.Arg1242=)
c.5638A= (p.Arg1880=)
c.5362A= (p.Arg1788=)
9g.115046447T>ACA466912347TNCc.318-4106A>T
c.3215-4106A>T (n.3215-4106A>T)
c.3999A>T (p.Gly1333=)
c.2031A>T (p.Gly677=)
c.687A>T (p.Gly229=)
c.4046A>T
c.5088A>T (p.Gly1696=)
c.4542A>T (p.Gly1514=)
c.4307-4106A>T (n.4307-4106A>T)
n.253-4106A>T
n.40-4106A>T
c.775A>T
c.4815A>T (p.Gly1605=)
c.4034-4106A>T (n.4034-4106A>T)
c.3450A>T (p.Gly1150=)
c.5364A>T (p.Gly1788=)
c.3488-4106A>T (n.3488-4106A>T)
c.5091A>T (p.Gly1697=)
c.4545A>T (p.Gly1515=)
c.4580-4106A>T (n.4580-4106A>T)
c.4272A>T (p.Gly1424=)
c.3761-4106A>T (n.3761-4106A>T)
c.3723A>T (p.Gly1241=)
c.5637A>T (p.Gly1879=)
c.5361A>T (p.Gly1787=)
9g.115046447T>CCA466912348TNCc.318-4106A>G
c.3215-4106A>G (n.3215-4106A>G)
c.3999A>G (p.Gly1333=)
c.2031A>G (p.Gly677=)
c.687A>G (p.Gly229=)
c.4046A>G
c.5088A>G (p.Gly1696=)
c.4542A>G (p.Gly1514=)
c.4307-4106A>G (n.4307-4106A>G)
n.253-4106A>G
n.40-4106A>G
c.775A>G
c.4815A>G (p.Gly1605=)
c.4034-4106A>G (n.4034-4106A>G)
c.3450A>G (p.Gly1150=)
c.5364A>G (p.Gly1788=)
c.3488-4106A>G (n.3488-4106A>G)
c.5091A>G (p.Gly1697=)
c.4545A>G (p.Gly1515=)
c.4580-4106A>G (n.4580-4106A>G)
c.4272A>G (p.Gly1424=)
c.3761-4106A>G (n.3761-4106A>G)
c.3723A>G (p.Gly1241=)
c.5637A>G (p.Gly1879=)
c.5361A>G (p.Gly1787=)
9g.115046447T>GCA466912349TNCc.318-4106A>C
c.3215-4106A>C (n.3215-4106A>C)
c.3999A>C (p.Gly1333=)
c.2031A>C (p.Gly677=)
c.687A>C (p.Gly229=)
c.4046A>C
c.5088A>C (p.Gly1696=)
c.4542A>C (p.Gly1514=)
c.4307-4106A>C (n.4307-4106A>C)
n.253-4106A>C
n.40-4106A>C
c.775A>C
c.4815A>C (p.Gly1605=)
c.4034-4106A>C (n.4034-4106A>C)
c.3450A>C (p.Gly1150=)
c.5364A>C (p.Gly1788=)
c.3488-4106A>C (n.3488-4106A>C)
c.5091A>C (p.Gly1697=)
c.4545A>C (p.Gly1515=)
c.4580-4106A>C (n.4580-4106A>C)
c.4272A>C (p.Gly1424=)
c.3761-4106A>C (n.3761-4106A>C)
c.3723A>C (p.Gly1241=)
c.5637A>C (p.Gly1879=)
c.5361A>C (p.Gly1787=)
9g.115046448C>ACA374630623TNCc.318-4107G>T
c.3215-4107G>T (n.3215-4107G>T)
c.3998G>T (p.Gly1333Val)
c.2030G>T (p.Gly677Val)
c.686G>T (p.Gly229Val)
c.4045G>T
c.5087G>T (p.Gly1696Val)
c.4541G>T (p.Gly1514Val)
c.4307-4107G>T (n.4307-4107G>T)
n.253-4107G>T
n.40-4107G>T
c.774G>T
c.4814G>T (p.Gly1605Val)
c.4034-4107G>T (n.4034-4107G>T)
c.3449G>T (p.Gly1150Val)
c.5363G>T (p.Gly1788Val)
c.3488-4107G>T (n.3488-4107G>T)
c.5090G>T (p.Gly1697Val)
c.4544G>T (p.Gly1515Val)
c.4580-4107G>T (n.4580-4107G>T)
c.4271G>T (p.Gly1424Val)
c.3761-4107G>T (n.3761-4107G>T)
c.3722G>T (p.Gly1241Val)
c.5636G>T (p.Gly1879Val)
c.5360G>T (p.Gly1787Val)
9g.115046448C>GCA374630621TNCc.318-4107G>C
c.3215-4107G>C (n.3215-4107G>C)
c.3998G>C (p.Gly1333Ala)
c.2030G>C (p.Gly677Ala)
c.686G>C (p.Gly229Ala)
c.4045G>C
c.5087G>C (p.Gly1696Ala)
c.4541G>C (p.Gly1514Ala)
c.4307-4107G>C (n.4307-4107G>C)
n.253-4107G>C
n.40-4107G>C
c.774G>C
c.4814G>C (p.Gly1605Ala)
c.4034-4107G>C (n.4034-4107G>C)
c.3449G>C (p.Gly1150Ala)
c.5363G>C (p.Gly1788Ala)
c.3488-4107G>C (n.3488-4107G>C)
c.5090G>C (p.Gly1697Ala)
c.4544G>C (p.Gly1515Ala)
c.4580-4107G>C (n.4580-4107G>C)
c.4271G>C (p.Gly1424Ala)
c.3761-4107G>C (n.3761-4107G>C)
c.3722G>C (p.Gly1241Ala)
c.5636G>C (p.Gly1879Ala)
c.5360G>C (p.Gly1787Ala)
9g.115046448C>TCA374630620TNCc.318-4107G>A
c.3215-4107G>A (n.3215-4107G>A)
c.3998G>A (p.Gly1333Glu)
c.2030G>A (p.Gly677Glu)
c.686G>A (p.Gly229Glu)
c.4045G>A
c.5087G>A (p.Gly1696Glu)
c.4541G>A (p.Gly1514Glu)
c.4307-4107G>A (n.4307-4107G>A)
n.253-4107G>A
n.40-4107G>A
c.774G>A
c.4814G>A (p.Gly1605Glu)
c.4034-4107G>A (n.4034-4107G>A)
c.3449G>A (p.Gly1150Glu)
c.5363G>A (p.Gly1788Glu)
c.3488-4107G>A (n.3488-4107G>A)
c.5090G>A (p.Gly1697Glu)
c.4544G>A (p.Gly1515Glu)
c.4580-4107G>A (n.4580-4107G>A)
c.4271G>A (p.Gly1424Glu)
c.3761-4107G>A (n.3761-4107G>A)
c.3722G>A (p.Gly1241Glu)
c.5636G>A (p.Gly1879Glu)
c.5360G>A (p.Gly1787Glu)
 gnomAD v4 COSMIC
9g.115046449C>ACA374630628TNCc.318-4108G>T
c.3215-4108G>T (n.3215-4108G>T)
c.3997G>T (p.Gly1333Ter)
c.2029G>T (p.Gly677Ter)
c.685G>T (p.Gly229Ter)
c.4044G>T
c.5086G>T (p.Gly1696Ter)
c.4540G>T (p.Gly1514Ter)
c.4307-4108G>T (n.4307-4108G>T)
n.253-4108G>T
n.40-4108G>T
c.773G>T
c.4813G>T (p.Gly1605Ter)
c.4034-4108G>T (n.4034-4108G>T)
c.3448G>T (p.Gly1150Ter)
c.5362G>T (p.Gly1788Ter)
c.3488-4108G>T (n.3488-4108G>T)
c.5089G>T (p.Gly1697Ter)
c.4543G>T (p.Gly1515Ter)
c.4580-4108G>T (n.4580-4108G>T)
c.4270G>T (p.Gly1424Ter)
c.3761-4108G>T (n.3761-4108G>T)
c.3721G>T (p.Gly1241Ter)
c.5635G>T (p.Gly1879Ter)
c.5359G>T (p.Gly1787Ter)
9g.115046449C=CA1874118873TNCc.318-4108G=
c.3215-4108G= (n.3215-4108G=)
c.3997G= (p.Gly1333=)
c.2029G= (p.Gly677=)
c.685G= (p.Gly229=)
c.4044G=
c.5086G= (p.Gly1696=)
c.4540G= (p.Gly1514=)
c.4307-4108G= (n.4307-4108G=)
n.253-4108G=
n.40-4108G=
c.773G=
c.4813G= (p.Gly1605=)
c.4034-4108G= (n.4034-4108G=)
c.3448G= (p.Gly1150=)
c.5362G= (p.Gly1788=)
c.3488-4108G= (n.3488-4108G=)
c.5089G= (p.Gly1697=)
c.4543G= (p.Gly1515=)
c.4580-4108G= (n.4580-4108G=)
c.4270G= (p.Gly1424=)
c.3761-4108G= (n.3761-4108G=)
c.3721G= (p.Gly1241=)
c.5635G= (p.Gly1879=)
c.5359G= (p.Gly1787=)
9g.115046449C>GCA374630625TNCc.318-4108G>C
c.3215-4108G>C (n.3215-4108G>C)
c.3997G>C (p.Gly1333Arg)
c.2029G>C (p.Gly677Arg)
c.685G>C (p.Gly229Arg)
c.4044G>C
c.5086G>C (p.Gly1696Arg)
c.4540G>C (p.Gly1514Arg)
c.4307-4108G>C (n.4307-4108G>C)
n.253-4108G>C
n.40-4108G>C
c.773G>C
c.4813G>C (p.Gly1605Arg)
c.4034-4108G>C (n.4034-4108G>C)
c.3448G>C (p.Gly1150Arg)
c.5362G>C (p.Gly1788Arg)
c.3488-4108G>C (n.3488-4108G>C)
c.5089G>C (p.Gly1697Arg)
c.4543G>C (p.Gly1515Arg)
c.4580-4108G>C (n.4580-4108G>C)
c.4270G>C (p.Gly1424Arg)
c.3761-4108G>C (n.3761-4108G>C)
c.3721G>C (p.Gly1241Arg)
c.5635G>C (p.Gly1879Arg)
c.5359G>C (p.Gly1787Arg)
9g.115046449C>TCA5207760TNCc.318-4108G>A
c.3215-4108G>A (n.3215-4108G>A)
c.3997G>A (p.Gly1333Arg)
c.2029G>A (p.Gly677Arg)
c.685G>A (p.Gly229Arg)
c.4044G>A
c.5086G>A (p.Gly1696Arg)
c.4540G>A (p.Gly1514Arg)
c.4307-4108G>A (n.4307-4108G>A)
n.253-4108G>A
n.40-4108G>A
c.773G>A
c.4813G>A (p.Gly1605Arg)
c.4034-4108G>A (n.4034-4108G>A)
c.3448G>A (p.Gly1150Arg)
c.5362G>A (p.Gly1788Arg)
c.3488-4108G>A (n.3488-4108G>A)
c.5089G>A (p.Gly1697Arg)
c.4543G>A (p.Gly1515Arg)
c.4580-4108G>A (n.4580-4108G>A)
c.4270G>A (p.Gly1424Arg)
c.3761-4108G>A (n.3761-4108G>A)
c.3721G>A (p.Gly1241Arg)
c.5635G>A (p.Gly1879Arg)
c.5359G>A (p.Gly1787Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046450T>ACA374630630TNCc.318-4109A>T
c.3215-4109A>T (n.3215-4109A>T)
c.3996A>T (p.Lys1332Asn)
c.2028A>T (p.Lys676Asn)
c.684A>T (p.Lys228Asn)
c.4043A>T
c.5085A>T (p.Lys1695Asn)
c.4539A>T (p.Lys1513Asn)
c.4307-4109A>T (n.4307-4109A>T)
n.253-4109A>T
n.40-4109A>T
c.772A>T
c.4812A>T (p.Lys1604Asn)
c.4034-4109A>T (n.4034-4109A>T)
c.3447A>T (p.Lys1149Asn)
c.5361A>T (p.Lys1787Asn)
c.3488-4109A>T (n.3488-4109A>T)
c.5088A>T (p.Lys1696Asn)
c.4542A>T (p.Lys1514Asn)
c.4580-4109A>T (n.4580-4109A>T)
c.4269A>T (p.Lys1423Asn)
c.3761-4109A>T (n.3761-4109A>T)
c.3720A>T (p.Lys1240Asn)
c.5634A>T (p.Lys1878Asn)
c.5358A>T (p.Lys1786Asn)
9g.115046450T>CCA466912351TNCc.318-4109A>G
c.3215-4109A>G (n.3215-4109A>G)
c.3996A>G (p.Lys1332=)
c.2028A>G (p.Lys676=)
c.684A>G (p.Lys228=)
c.4043A>G
c.5085A>G (p.Lys1695=)
c.4539A>G (p.Lys1513=)
c.4307-4109A>G (n.4307-4109A>G)
n.253-4109A>G
n.40-4109A>G
c.772A>G
c.4812A>G (p.Lys1604=)
c.4034-4109A>G (n.4034-4109A>G)
c.3447A>G (p.Lys1149=)
c.5361A>G (p.Lys1787=)
c.3488-4109A>G (n.3488-4109A>G)
c.5088A>G (p.Lys1696=)
c.4542A>G (p.Lys1514=)
c.4580-4109A>G (n.4580-4109A>G)
c.4269A>G (p.Lys1423=)
c.3761-4109A>G (n.3761-4109A>G)
c.3720A>G (p.Lys1240=)
c.5634A>G (p.Lys1878=)
c.5358A>G (p.Lys1786=)
9g.115046450T>GCA374630632TNCc.318-4109A>C
c.3215-4109A>C (n.3215-4109A>C)
c.3996A>C (p.Lys1332Asn)
c.2028A>C (p.Lys676Asn)
c.684A>C (p.Lys228Asn)
c.4043A>C
c.5085A>C (p.Lys1695Asn)
c.4539A>C (p.Lys1513Asn)
c.4307-4109A>C (n.4307-4109A>C)
n.253-4109A>C
n.40-4109A>C
c.772A>C
c.4812A>C (p.Lys1604Asn)
c.4034-4109A>C (n.4034-4109A>C)
c.3447A>C (p.Lys1149Asn)
c.5361A>C (p.Lys1787Asn)
c.3488-4109A>C (n.3488-4109A>C)
c.5088A>C (p.Lys1696Asn)
c.4542A>C (p.Lys1514Asn)
c.4580-4109A>C (n.4580-4109A>C)
c.4269A>C (p.Lys1423Asn)
c.3761-4109A>C (n.3761-4109A>C)
c.3720A>C (p.Lys1240Asn)
c.5634A>C (p.Lys1878Asn)
c.5358A>C (p.Lys1786Asn)
9g.115046451T>ACA374630634TNCc.318-4110A>T
c.3215-4110A>T (n.3215-4110A>T)
c.3995A>T (p.Lys1332Ile)
c.2027A>T (p.Lys676Ile)
c.683A>T (p.Lys228Ile)
c.4042A>T
c.5084A>T (p.Lys1695Ile)
c.4538A>T (p.Lys1513Ile)
c.4307-4110A>T (n.4307-4110A>T)
n.253-4110A>T
n.40-4110A>T
c.771A>T
c.4811A>T (p.Lys1604Ile)
c.4034-4110A>T (n.4034-4110A>T)
c.3446A>T (p.Lys1149Ile)
c.5360A>T (p.Lys1787Ile)
c.3488-4110A>T (n.3488-4110A>T)
c.5087A>T (p.Lys1696Ile)
c.4541A>T (p.Lys1514Ile)
c.4580-4110A>T (n.4580-4110A>T)
c.4268A>T (p.Lys1423Ile)
c.3761-4110A>T (n.3761-4110A>T)
c.3719A>T (p.Lys1240Ile)
c.5633A>T (p.Lys1878Ile)
c.5357A>T (p.Lys1786Ile)
9g.115046451T>CCA374630636TNCc.318-4110A>G
c.3215-4110A>G (n.3215-4110A>G)
c.3995A>G (p.Lys1332Arg)
c.2027A>G (p.Lys676Arg)
c.683A>G (p.Lys228Arg)
c.4042A>G
c.5084A>G (p.Lys1695Arg)
c.4538A>G (p.Lys1513Arg)
c.4307-4110A>G (n.4307-4110A>G)
n.253-4110A>G
n.40-4110A>G
c.771A>G
c.4811A>G (p.Lys1604Arg)
c.4034-4110A>G (n.4034-4110A>G)
c.3446A>G (p.Lys1149Arg)
c.5360A>G (p.Lys1787Arg)
c.3488-4110A>G (n.3488-4110A>G)
c.5087A>G (p.Lys1696Arg)
c.4541A>G (p.Lys1514Arg)
c.4580-4110A>G (n.4580-4110A>G)
c.4268A>G (p.Lys1423Arg)
c.3761-4110A>G (n.3761-4110A>G)
c.3719A>G (p.Lys1240Arg)
c.5633A>G (p.Lys1878Arg)
c.5357A>G (p.Lys1786Arg)
9g.115046451T>GCA374630638TNCc.318-4110A>C
c.3215-4110A>C (n.3215-4110A>C)
c.3995A>C (p.Lys1332Thr)
c.2027A>C (p.Lys676Thr)
c.683A>C (p.Lys228Thr)
c.4042A>C
c.5084A>C (p.Lys1695Thr)
c.4538A>C (p.Lys1513Thr)
c.4307-4110A>C (n.4307-4110A>C)
n.253-4110A>C
n.40-4110A>C
c.771A>C
c.4811A>C (p.Lys1604Thr)
c.4034-4110A>C (n.4034-4110A>C)
c.3446A>C (p.Lys1149Thr)
c.5360A>C (p.Lys1787Thr)
c.3488-4110A>C (n.3488-4110A>C)
c.5087A>C (p.Lys1696Thr)
c.4541A>C (p.Lys1514Thr)
c.4580-4110A>C (n.4580-4110A>C)
c.4268A>C (p.Lys1423Thr)
c.3761-4110A>C (n.3761-4110A>C)
c.3719A>C (p.Lys1240Thr)
c.5633A>C (p.Lys1878Thr)
c.5357A>C (p.Lys1786Thr)
9g.115046452T>ACA374630640TNCc.318-4111A>T
c.3215-4111A>T (n.3215-4111A>T)
c.3994A>T (p.Lys1332Ter)
c.2026A>T (p.Lys676Ter)
c.682A>T (p.Lys228Ter)
c.4041A>T
c.5083A>T (p.Lys1695Ter)
c.4537A>T (p.Lys1513Ter)
c.4307-4111A>T (n.4307-4111A>T)
n.253-4111A>T
n.40-4111A>T
c.770A>T
c.4810A>T (p.Lys1604Ter)
c.4034-4111A>T (n.4034-4111A>T)
c.3445A>T (p.Lys1149Ter)
c.5359A>T (p.Lys1787Ter)
c.3488-4111A>T (n.3488-4111A>T)
c.5086A>T (p.Lys1696Ter)
c.4540A>T (p.Lys1514Ter)
c.4580-4111A>T (n.4580-4111A>T)
c.4267A>T (p.Lys1423Ter)
c.3761-4111A>T (n.3761-4111A>T)
c.3718A>T (p.Lys1240Ter)
c.5632A>T (p.Lys1878Ter)
c.5356A>T (p.Lys1786Ter)
9g.115046452T>CCA374630642TNCc.318-4111A>G
c.3215-4111A>G (n.3215-4111A>G)
c.3994A>G (p.Lys1332Glu)
c.2026A>G (p.Lys676Glu)
c.682A>G (p.Lys228Glu)
c.4041A>G
c.5083A>G (p.Lys1695Glu)
c.4537A>G (p.Lys1513Glu)
c.4307-4111A>G (n.4307-4111A>G)
n.253-4111A>G
n.40-4111A>G
c.770A>G
c.4810A>G (p.Lys1604Glu)
c.4034-4111A>G (n.4034-4111A>G)
c.3445A>G (p.Lys1149Glu)
c.5359A>G (p.Lys1787Glu)
c.3488-4111A>G (n.3488-4111A>G)
c.5086A>G (p.Lys1696Glu)
c.4540A>G (p.Lys1514Glu)
c.4580-4111A>G (n.4580-4111A>G)
c.4267A>G (p.Lys1423Glu)
c.3761-4111A>G (n.3761-4111A>G)
c.3718A>G (p.Lys1240Glu)
c.5632A>G (p.Lys1878Glu)
c.5356A>G (p.Lys1786Glu)
9g.115046452T>GCA374630644TNCc.318-4111A>C
c.3215-4111A>C (n.3215-4111A>C)
c.3994A>C (p.Lys1332Gln)
c.2026A>C (p.Lys676Gln)
c.682A>C (p.Lys228Gln)
c.4041A>C
c.5083A>C (p.Lys1695Gln)
c.4537A>C (p.Lys1513Gln)
c.4307-4111A>C (n.4307-4111A>C)
n.253-4111A>C
n.40-4111A>C
c.770A>C
c.4810A>C (p.Lys1604Gln)
c.4034-4111A>C (n.4034-4111A>C)
c.3445A>C (p.Lys1149Gln)
c.5359A>C (p.Lys1787Gln)
c.3488-4111A>C (n.3488-4111A>C)
c.5086A>C (p.Lys1696Gln)
c.4540A>C (p.Lys1514Gln)
c.4580-4111A>C (n.4580-4111A>C)
c.4267A>C (p.Lys1423Gln)
c.3761-4111A>C (n.3761-4111A>C)
c.3718A>C (p.Lys1240Gln)
c.5632A>C (p.Lys1878Gln)
c.5356A>C (p.Lys1786Gln)
9g.115046453G>ACA466912352TNCc.318-4112C>T
c.3215-4112C>T (n.3215-4112C>T)
c.3993C>T (p.Ser1331=)
c.2025C>T (p.Ser675=)
c.681C>T (p.Ser227=)
c.4040C>T
c.5082C>T (p.Ser1694=)
c.4536C>T (p.Ser1512=)
c.4307-4112C>T (n.4307-4112C>T)
n.253-4112C>T
n.40-4112C>T
c.769C>T
c.4809C>T (p.Ser1603=)
c.4034-4112C>T (n.4034-4112C>T)
c.3444C>T (p.Ser1148=)
c.5358C>T (p.Ser1786=)
c.3488-4112C>T (n.3488-4112C>T)
c.5085C>T (p.Ser1695=)
c.4539C>T (p.Ser1513=)
c.4580-4112C>T (n.4580-4112C>T)
c.4266C>T (p.Ser1422=)
c.3761-4112C>T (n.3761-4112C>T)
c.3717C>T (p.Ser1239=)
c.5631C>T (p.Ser1877=)
c.5355C>T (p.Ser1785=)
9g.115046453G>CCA5207761TNCc.318-4112C>G
c.3215-4112C>G (n.3215-4112C>G)
c.3993C>G (p.Ser1331Arg)
c.2025C>G (p.Ser675Arg)
c.681C>G (p.Ser227Arg)
c.4040C>G
c.5082C>G (p.Ser1694Arg)
c.4536C>G (p.Ser1512Arg)
c.4307-4112C>G (n.4307-4112C>G)
n.253-4112C>G
n.40-4112C>G
c.769C>G
c.4809C>G (p.Ser1603Arg)
c.4034-4112C>G (n.4034-4112C>G)
c.3444C>G (p.Ser1148Arg)
c.5358C>G (p.Ser1786Arg)
c.3488-4112C>G (n.3488-4112C>G)
c.5085C>G (p.Ser1695Arg)
c.4539C>G (p.Ser1513Arg)
c.4580-4112C>G (n.4580-4112C>G)
c.4266C>G (p.Ser1422Arg)
c.3761-4112C>G (n.3761-4112C>G)
c.3717C>G (p.Ser1239Arg)
c.5631C>G (p.Ser1877Arg)
c.5355C>G (p.Ser1785Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046453G=CA1874118874TNCc.318-4112C=
c.3215-4112C= (n.3215-4112C=)
c.3993C= (p.Ser1331=)
c.2025C= (p.Ser675=)
c.681C= (p.Ser227=)
c.4040C=
c.5082C= (p.Ser1694=)
c.4536C= (p.Ser1512=)
c.4307-4112C= (n.4307-4112C=)
n.253-4112C=
n.40-4112C=
c.769C=
c.4809C= (p.Ser1603=)
c.4034-4112C= (n.4034-4112C=)
c.3444C= (p.Ser1148=)
c.5358C= (p.Ser1786=)
c.3488-4112C= (n.3488-4112C=)
c.5085C= (p.Ser1695=)
c.4539C= (p.Ser1513=)
c.4580-4112C= (n.4580-4112C=)
c.4266C= (p.Ser1422=)
c.3761-4112C= (n.3761-4112C=)
c.3717C= (p.Ser1239=)
c.5631C= (p.Ser1877=)
c.5355C= (p.Ser1785=)
9g.115046453G>TCA374630646TNCc.318-4112C>A
c.3215-4112C>A (n.3215-4112C>A)
c.3993C>A (p.Ser1331Arg)
c.2025C>A (p.Ser675Arg)
c.681C>A (p.Ser227Arg)
c.4040C>A
c.5082C>A (p.Ser1694Arg)
c.4536C>A (p.Ser1512Arg)
c.4307-4112C>A (n.4307-4112C>A)
n.253-4112C>A
n.40-4112C>A
c.769C>A
c.4809C>A (p.Ser1603Arg)
c.4034-4112C>A (n.4034-4112C>A)
c.3444C>A (p.Ser1148Arg)
c.5358C>A (p.Ser1786Arg)
c.3488-4112C>A (n.3488-4112C>A)
c.5085C>A (p.Ser1695Arg)
c.4539C>A (p.Ser1513Arg)
c.4580-4112C>A (n.4580-4112C>A)
c.4266C>A (p.Ser1422Arg)
c.3761-4112C>A (n.3761-4112C>A)
c.3717C>A (p.Ser1239Arg)
c.5631C>A (p.Ser1877Arg)
c.5355C>A (p.Ser1785Arg)
9g.115046454C>ACA374630650TNCc.318-4113G>T
c.3215-4113G>T (n.3215-4113G>T)
c.3992G>T (p.Ser1331Ile)
c.2024G>T (p.Ser675Ile)
c.680G>T (p.Ser227Ile)
c.4039G>T
c.5081G>T (p.Ser1694Ile)
c.4535G>T (p.Ser1512Ile)
c.4307-4113G>T (n.4307-4113G>T)
n.253-4113G>T
n.40-4113G>T
c.768G>T
c.4808G>T (p.Ser1603Ile)
c.4034-4113G>T (n.4034-4113G>T)
c.3443G>T (p.Ser1148Ile)
c.5357G>T (p.Ser1786Ile)
c.3488-4113G>T (n.3488-4113G>T)
c.5084G>T (p.Ser1695Ile)
c.4538G>T (p.Ser1513Ile)
c.4580-4113G>T (n.4580-4113G>T)
c.4265G>T (p.Ser1422Ile)
c.3761-4113G>T (n.3761-4113G>T)
c.3716G>T (p.Ser1239Ile)
c.5630G>T (p.Ser1877Ile)
c.5354G>T (p.Ser1785Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.115046454C=CA1874118875TNCc.318-4113G=
c.3215-4113G= (n.3215-4113G=)
c.3992G= (p.Ser1331=)
c.2024G= (p.Ser675=)
c.680G= (p.Ser227=)
c.4039G=
c.5081G= (p.Ser1694=)
c.4535G= (p.Ser1512=)
c.4307-4113G= (n.4307-4113G=)
n.253-4113G=
n.40-4113G=
c.768G=
c.4808G= (p.Ser1603=)
c.4034-4113G= (n.4034-4113G=)
c.3443G= (p.Ser1148=)
c.5357G= (p.Ser1786=)
c.3488-4113G= (n.3488-4113G=)
c.5084G= (p.Ser1695=)
c.4538G= (p.Ser1513=)
c.4580-4113G= (n.4580-4113G=)
c.4265G= (p.Ser1422=)
c.3761-4113G= (n.3761-4113G=)
c.3716G= (p.Ser1239=)
c.5630G= (p.Ser1877=)
c.5354G= (p.Ser1785=)
9g.115046454C>GCA374630648TNCc.318-4113G>C
c.3215-4113G>C (n.3215-4113G>C)
c.3992G>C (p.Ser1331Thr)
c.2024G>C (p.Ser675Thr)
c.680G>C (p.Ser227Thr)
c.4039G>C
c.5081G>C (p.Ser1694Thr)
c.4535G>C (p.Ser1512Thr)
c.4307-4113G>C (n.4307-4113G>C)
n.253-4113G>C
n.40-4113G>C
c.768G>C
c.4808G>C (p.Ser1603Thr)
c.4034-4113G>C (n.4034-4113G>C)
c.3443G>C (p.Ser1148Thr)
c.5357G>C (p.Ser1786Thr)
c.3488-4113G>C (n.3488-4113G>C)
c.5084G>C (p.Ser1695Thr)
c.4538G>C (p.Ser1513Thr)
c.4580-4113G>C (n.4580-4113G>C)
c.4265G>C (p.Ser1422Thr)
c.3761-4113G>C (n.3761-4113G>C)
c.3716G>C (p.Ser1239Thr)
c.5630G>C (p.Ser1877Thr)
c.5354G>C (p.Ser1785Thr)
9g.115046454C>TCA5207762TNCc.318-4113G>A
c.3215-4113G>A (n.3215-4113G>A)
c.3992G>A (p.Ser1331Asn)
c.2024G>A (p.Ser675Asn)
c.680G>A (p.Ser227Asn)
c.4039G>A
c.5081G>A (p.Ser1694Asn)
c.4535G>A (p.Ser1512Asn)
c.4307-4113G>A (n.4307-4113G>A)
n.253-4113G>A
n.40-4113G>A
c.768G>A
c.4808G>A (p.Ser1603Asn)
c.4034-4113G>A (n.4034-4113G>A)
c.3443G>A (p.Ser1148Asn)
c.5357G>A (p.Ser1786Asn)
c.3488-4113G>A (n.3488-4113G>A)
c.5084G>A (p.Ser1695Asn)
c.4538G>A (p.Ser1513Asn)
c.4580-4113G>A (n.4580-4113G>A)
c.4265G>A (p.Ser1422Asn)
c.3761-4113G>A (n.3761-4113G>A)
c.3716G>A (p.Ser1239Asn)
c.5630G>A (p.Ser1877Asn)
c.5354G>A (p.Ser1785Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046455T>ACA374630652TNCc.318-4114A>T
c.3215-4114A>T (n.3215-4114A>T)
c.3991A>T (p.Ser1331Cys)
c.2023A>T (p.Ser675Cys)
c.679A>T (p.Ser227Cys)
c.4038A>T
c.5080A>T (p.Ser1694Cys)
c.4534A>T (p.Ser1512Cys)
c.4307-4114A>T (n.4307-4114A>T)
n.253-4114A>T
n.40-4114A>T
c.767A>T
c.4807A>T (p.Ser1603Cys)
c.4034-4114A>T (n.4034-4114A>T)
c.3442A>T (p.Ser1148Cys)
c.5356A>T (p.Ser1786Cys)
c.3488-4114A>T (n.3488-4114A>T)
c.5083A>T (p.Ser1695Cys)
c.4537A>T (p.Ser1513Cys)
c.4580-4114A>T (n.4580-4114A>T)
c.4264A>T (p.Ser1422Cys)
c.3761-4114A>T (n.3761-4114A>T)
c.3715A>T (p.Ser1239Cys)
c.5629A>T (p.Ser1877Cys)
c.5353A>T (p.Ser1785Cys)
9g.115046455T>CCA374630654TNCc.318-4114A>G
c.3215-4114A>G (n.3215-4114A>G)
c.3991A>G (p.Ser1331Gly)
c.2023A>G (p.Ser675Gly)
c.679A>G (p.Ser227Gly)
c.4038A>G
c.5080A>G (p.Ser1694Gly)
c.4534A>G (p.Ser1512Gly)
c.4307-4114A>G (n.4307-4114A>G)
n.253-4114A>G
n.40-4114A>G
c.767A>G
c.4807A>G (p.Ser1603Gly)
c.4034-4114A>G (n.4034-4114A>G)
c.3442A>G (p.Ser1148Gly)
c.5356A>G (p.Ser1786Gly)
c.3488-4114A>G (n.3488-4114A>G)
c.5083A>G (p.Ser1695Gly)
c.4537A>G (p.Ser1513Gly)
c.4580-4114A>G (n.4580-4114A>G)
c.4264A>G (p.Ser1422Gly)
c.3761-4114A>G (n.3761-4114A>G)
c.3715A>G (p.Ser1239Gly)
c.5629A>G (p.Ser1877Gly)
c.5353A>G (p.Ser1785Gly)
9g.115046455T>GCA374630656TNCc.318-4114A>C
c.3215-4114A>C (n.3215-4114A>C)
c.3991A>C (p.Ser1331Arg)
c.2023A>C (p.Ser675Arg)
c.679A>C (p.Ser227Arg)
c.4038A>C
c.5080A>C (p.Ser1694Arg)
c.4534A>C (p.Ser1512Arg)
c.4307-4114A>C (n.4307-4114A>C)
n.253-4114A>C
n.40-4114A>C
c.767A>C
c.4807A>C (p.Ser1603Arg)
c.4034-4114A>C (n.4034-4114A>C)
c.3442A>C (p.Ser1148Arg)
c.5356A>C (p.Ser1786Arg)
c.3488-4114A>C (n.3488-4114A>C)
c.5083A>C (p.Ser1695Arg)
c.4537A>C (p.Ser1513Arg)
c.4580-4114A>C (n.4580-4114A>C)
c.4264A>C (p.Ser1422Arg)
c.3761-4114A>C (n.3761-4114A>C)
c.3715A>C (p.Ser1239Arg)
c.5629A>C (p.Ser1877Arg)
c.5353A>C (p.Ser1785Arg)
9g.115046456T>ACA466912355TNCc.318-4115A>T
c.3215-4115A>T (n.3215-4115A>T)
c.3990A>T (p.Ile1330=)
c.2022A>T (p.Ile674=)
c.678A>T (p.Ile226=)
c.4037A>T
c.5079A>T (p.Ile1693=)
c.4533A>T (p.Ile1511=)
c.4307-4115A>T (n.4307-4115A>T)
n.253-4115A>T
n.40-4115A>T
c.766A>T
c.4806A>T (p.Ile1602=)
c.4034-4115A>T (n.4034-4115A>T)
c.3441A>T (p.Ile1147=)
c.5355A>T (p.Ile1785=)
c.3488-4115A>T (n.3488-4115A>T)
c.5082A>T (p.Ile1694=)
c.4536A>T (p.Ile1512=)
c.4580-4115A>T (n.4580-4115A>T)
c.4263A>T (p.Ile1421=)
c.3761-4115A>T (n.3761-4115A>T)
c.3714A>T (p.Ile1238=)
c.5628A>T (p.Ile1876=)
c.5352A>T (p.Ile1784=)
9g.115046456T>CCA374630658TNCc.318-4115A>G
c.3215-4115A>G (n.3215-4115A>G)
c.3990A>G (p.Ile1330Met)
c.2022A>G (p.Ile674Met)
c.678A>G (p.Ile226Met)
c.4037A>G
c.5079A>G (p.Ile1693Met)
c.4533A>G (p.Ile1511Met)
c.4307-4115A>G (n.4307-4115A>G)
n.253-4115A>G
n.40-4115A>G
c.766A>G
c.4806A>G (p.Ile1602Met)
c.4034-4115A>G (n.4034-4115A>G)
c.3441A>G (p.Ile1147Met)
c.5355A>G (p.Ile1785Met)
c.3488-4115A>G (n.3488-4115A>G)
c.5082A>G (p.Ile1694Met)
c.4536A>G (p.Ile1512Met)
c.4580-4115A>G (n.4580-4115A>G)
c.4263A>G (p.Ile1421Met)
c.3761-4115A>G (n.3761-4115A>G)
c.3714A>G (p.Ile1238Met)
c.5628A>G (p.Ile1876Met)
c.5352A>G (p.Ile1784Met)
 gnomAD v4
9g.115046456T>GCA466912354TNCc.318-4115A>C
c.3215-4115A>C (n.3215-4115A>C)
c.3990A>C (p.Ile1330=)
c.2022A>C (p.Ile674=)
c.678A>C (p.Ile226=)
c.4037A>C
c.5079A>C (p.Ile1693=)
c.4533A>C (p.Ile1511=)
c.4307-4115A>C (n.4307-4115A>C)
n.253-4115A>C
n.40-4115A>C
c.766A>C
c.4806A>C (p.Ile1602=)
c.4034-4115A>C (n.4034-4115A>C)
c.3441A>C (p.Ile1147=)
c.5355A>C (p.Ile1785=)
c.3488-4115A>C (n.3488-4115A>C)
c.5082A>C (p.Ile1694=)
c.4536A>C (p.Ile1512=)
c.4580-4115A>C (n.4580-4115A>C)
c.4263A>C (p.Ile1421=)
c.3761-4115A>C (n.3761-4115A>C)
c.3714A>C (p.Ile1238=)
c.5628A>C (p.Ile1876=)
c.5352A>C (p.Ile1784=)
9g.115046457A>CCA374630659TNCc.318-4116T>G
c.3215-4116T>G (n.3215-4116T>G)
c.3989T>G (p.Ile1330Arg)
c.2021T>G (p.Ile674Arg)
c.677T>G (p.Ile226Arg)
c.4036T>G
c.5078T>G (p.Ile1693Arg)
c.4532T>G (p.Ile1511Arg)
c.4307-4116T>G (n.4307-4116T>G)
n.253-4116T>G
n.40-4116T>G
c.765T>G
c.4805T>G (p.Ile1602Arg)
c.4034-4116T>G (n.4034-4116T>G)
c.3440T>G (p.Ile1147Arg)
c.5354T>G (p.Ile1785Arg)
c.3488-4116T>G (n.3488-4116T>G)
c.5081T>G (p.Ile1694Arg)
c.4535T>G (p.Ile1512Arg)
c.4580-4116T>G (n.4580-4116T>G)
c.4262T>G (p.Ile1421Arg)
c.3761-4116T>G (n.3761-4116T>G)
c.3713T>G (p.Ile1238Arg)
c.5627T>G (p.Ile1876Arg)
c.5351T>G (p.Ile1784Arg)
9g.115046457A>GCA374630661TNCc.318-4116T>C
c.3215-4116T>C (n.3215-4116T>C)
c.3989T>C (p.Ile1330Thr)
c.2021T>C (p.Ile674Thr)
c.677T>C (p.Ile226Thr)
c.4036T>C
c.5078T>C (p.Ile1693Thr)
c.4532T>C (p.Ile1511Thr)
c.4307-4116T>C (n.4307-4116T>C)
n.253-4116T>C
n.40-4116T>C
c.765T>C
c.4805T>C (p.Ile1602Thr)
c.4034-4116T>C (n.4034-4116T>C)
c.3440T>C (p.Ile1147Thr)
c.5354T>C (p.Ile1785Thr)
c.3488-4116T>C (n.3488-4116T>C)
c.5081T>C (p.Ile1694Thr)
c.4535T>C (p.Ile1512Thr)
c.4580-4116T>C (n.4580-4116T>C)
c.4262T>C (p.Ile1421Thr)
c.3761-4116T>C (n.3761-4116T>C)
c.3713T>C (p.Ile1238Thr)
c.5627T>C (p.Ile1876Thr)
c.5351T>C (p.Ile1784Thr)
9g.115046457A>TCA374630662TNCc.318-4116T>A
c.3215-4116T>A (n.3215-4116T>A)
c.3989T>A (p.Ile1330Lys)
c.2021T>A (p.Ile674Lys)
c.677T>A (p.Ile226Lys)
c.4036T>A
c.5078T>A (p.Ile1693Lys)
c.4532T>A (p.Ile1511Lys)
c.4307-4116T>A (n.4307-4116T>A)
n.253-4116T>A
n.40-4116T>A
c.765T>A
c.4805T>A (p.Ile1602Lys)
c.4034-4116T>A (n.4034-4116T>A)
c.3440T>A (p.Ile1147Lys)
c.5354T>A (p.Ile1785Lys)
c.3488-4116T>A (n.3488-4116T>A)
c.5081T>A (p.Ile1694Lys)
c.4535T>A (p.Ile1512Lys)
c.4580-4116T>A (n.4580-4116T>A)
c.4262T>A (p.Ile1421Lys)
c.3761-4116T>A (n.3761-4116T>A)
c.3713T>A (p.Ile1238Lys)
c.5627T>A (p.Ile1876Lys)
c.5351T>A (p.Ile1784Lys)
9g.115046458T>ACA374630664TNCc.318-4117A>T
c.3215-4117A>T (n.3215-4117A>T)
c.3988A>T (p.Ile1330Leu)
c.2020A>T (p.Ile674Leu)
c.676A>T (p.Ile226Leu)
c.4035A>T
c.5077A>T (p.Ile1693Leu)
c.4531A>T (p.Ile1511Leu)
c.4307-4117A>T (n.4307-4117A>T)
n.253-4117A>T
n.40-4117A>T
c.764A>T
c.4804A>T (p.Ile1602Leu)
c.4034-4117A>T (n.4034-4117A>T)
c.3439A>T (p.Ile1147Leu)
c.5353A>T (p.Ile1785Leu)
c.3488-4117A>T (n.3488-4117A>T)
c.5080A>T (p.Ile1694Leu)
c.4534A>T (p.Ile1512Leu)
c.4580-4117A>T (n.4580-4117A>T)
c.4261A>T (p.Ile1421Leu)
c.3761-4117A>T (n.3761-4117A>T)
c.3712A>T (p.Ile1238Leu)
c.5626A>T (p.Ile1876Leu)
c.5350A>T (p.Ile1784Leu)
9g.115046458T>CCA374630666TNCc.318-4117A>G
c.3215-4117A>G (n.3215-4117A>G)
c.3988A>G (p.Ile1330Val)
c.2020A>G (p.Ile674Val)
c.676A>G (p.Ile226Val)
c.4035A>G
c.5077A>G (p.Ile1693Val)
c.4531A>G (p.Ile1511Val)
c.4307-4117A>G (n.4307-4117A>G)
n.253-4117A>G
n.40-4117A>G
c.764A>G
c.4804A>G (p.Ile1602Val)
c.4034-4117A>G (n.4034-4117A>G)
c.3439A>G (p.Ile1147Val)
c.5353A>G (p.Ile1785Val)
c.3488-4117A>G (n.3488-4117A>G)
c.5080A>G (p.Ile1694Val)
c.4534A>G (p.Ile1512Val)
c.4580-4117A>G (n.4580-4117A>G)
c.4261A>G (p.Ile1421Val)
c.3761-4117A>G (n.3761-4117A>G)
c.3712A>G (p.Ile1238Val)
c.5626A>G (p.Ile1876Val)
c.5350A>G (p.Ile1784Val)
 gnomAD v4
9g.115046458T>GCA374630668TNCc.318-4117A>C
c.3215-4117A>C (n.3215-4117A>C)
c.3988A>C (p.Ile1330Leu)
c.2020A>C (p.Ile674Leu)
c.676A>C (p.Ile226Leu)
c.4035A>C
c.5077A>C (p.Ile1693Leu)
c.4531A>C (p.Ile1511Leu)
c.4307-4117A>C (n.4307-4117A>C)
n.253-4117A>C
n.40-4117A>C
c.764A>C
c.4804A>C (p.Ile1602Leu)
c.4034-4117A>C (n.4034-4117A>C)
c.3439A>C (p.Ile1147Leu)
c.5353A>C (p.Ile1785Leu)
c.3488-4117A>C (n.3488-4117A>C)
c.5080A>C (p.Ile1694Leu)
c.4534A>C (p.Ile1512Leu)
c.4580-4117A>C (n.4580-4117A>C)
c.4261A>C (p.Ile1421Leu)
c.3761-4117A>C (n.3761-4117A>C)
c.3712A>C (p.Ile1238Leu)
c.5626A>C (p.Ile1876Leu)
c.5350A>C (p.Ile1784Leu)
9g.115046459T>ACA466912359TNCc.318-4118A>T
c.3215-4118A>T (n.3215-4118A>T)
c.3987A>T (p.Gly1329=)
c.2019A>T (p.Gly673=)
c.675A>T (p.Gly225=)
c.4034A>T
c.5076A>T (p.Gly1692=)
c.4530A>T (p.Gly1510=)
c.4307-4118A>T (n.4307-4118A>T)
n.253-4118A>T
n.40-4118A>T
c.763A>T
c.4803A>T (p.Gly1601=)
c.4034-4118A>T (n.4034-4118A>T)
c.3438A>T (p.Gly1146=)
c.5352A>T (p.Gly1784=)
c.3488-4118A>T (n.3488-4118A>T)
c.5079A>T (p.Gly1693=)
c.4533A>T (p.Gly1511=)
c.4580-4118A>T (n.4580-4118A>T)
c.4260A>T (p.Gly1420=)
c.3761-4118A>T (n.3761-4118A>T)
c.3711A>T (p.Gly1237=)
c.5625A>T (p.Gly1875=)
c.5349A>T (p.Gly1783=)
 dbSNP gnomAD v2 gnomAD v4
9g.115046459T>CCA466912360TNCc.318-4118A>G
c.3215-4118A>G (n.3215-4118A>G)
c.3987A>G (p.Gly1329=)
c.2019A>G (p.Gly673=)
c.675A>G (p.Gly225=)
c.4034A>G
c.5076A>G (p.Gly1692=)
c.4530A>G (p.Gly1510=)
c.4307-4118A>G (n.4307-4118A>G)
n.253-4118A>G
n.40-4118A>G
c.763A>G
c.4803A>G (p.Gly1601=)
c.4034-4118A>G (n.4034-4118A>G)
c.3438A>G (p.Gly1146=)
c.5352A>G (p.Gly1784=)
c.3488-4118A>G (n.3488-4118A>G)
c.5079A>G (p.Gly1693=)
c.4533A>G (p.Gly1511=)
c.4580-4118A>G (n.4580-4118A>G)
c.4260A>G (p.Gly1420=)
c.3761-4118A>G (n.3761-4118A>G)
c.3711A>G (p.Gly1237=)
c.5625A>G (p.Gly1875=)
c.5349A>G (p.Gly1783=)
 gnomAD v4
9g.115046459T>GCA466912361TNCc.318-4118A>C
c.3215-4118A>C (n.3215-4118A>C)
c.3987A>C (p.Gly1329=)
c.2019A>C (p.Gly673=)
c.675A>C (p.Gly225=)
c.4034A>C
c.5076A>C (p.Gly1692=)
c.4530A>C (p.Gly1510=)
c.4307-4118A>C (n.4307-4118A>C)
n.253-4118A>C
n.40-4118A>C
c.763A>C
c.4803A>C (p.Gly1601=)
c.4034-4118A>C (n.4034-4118A>C)
c.3438A>C (p.Gly1146=)
c.5352A>C (p.Gly1784=)
c.3488-4118A>C (n.3488-4118A>C)
c.5079A>C (p.Gly1693=)
c.4533A>C (p.Gly1511=)
c.4580-4118A>C (n.4580-4118A>C)
c.4260A>C (p.Gly1420=)
c.3761-4118A>C (n.3761-4118A>C)
c.3711A>C (p.Gly1237=)
c.5625A>C (p.Gly1875=)
c.5349A>C (p.Gly1783=)
9g.115046459T=CA1874118876TNCc.318-4118A=
c.3215-4118A= (n.3215-4118A=)
c.3987A= (p.Gly1329=)
c.2019A= (p.Gly673=)
c.675A= (p.Gly225=)
c.4034A=
c.5076A= (p.Gly1692=)
c.4530A= (p.Gly1510=)
c.4307-4118A= (n.4307-4118A=)
n.253-4118A=
n.40-4118A=
c.763A=
c.4803A= (p.Gly1601=)
c.4034-4118A= (n.4034-4118A=)
c.3438A= (p.Gly1146=)
c.5352A= (p.Gly1784=)
c.3488-4118A= (n.3488-4118A=)
c.5079A= (p.Gly1693=)
c.4533A= (p.Gly1511=)
c.4580-4118A= (n.4580-4118A=)
c.4260A= (p.Gly1420=)
c.3761-4118A= (n.3761-4118A=)
c.3711A= (p.Gly1237=)
c.5625A= (p.Gly1875=)
c.5349A= (p.Gly1783=)
9g.115046460C>ACA374630670TNCc.318-4119G>T
c.3215-4119G>T (n.3215-4119G>T)
c.3986G>T (p.Gly1329Val)
c.2018G>T (p.Gly673Val)
c.674G>T (p.Gly225Val)
c.4033G>T
c.5075G>T (p.Gly1692Val)
c.4529G>T (p.Gly1510Val)
c.4307-4119G>T (n.4307-4119G>T)
n.253-4119G>T
n.40-4119G>T
c.762G>T
c.4802G>T (p.Gly1601Val)
c.4034-4119G>T (n.4034-4119G>T)
c.3437G>T (p.Gly1146Val)
c.5351G>T (p.Gly1784Val)
c.3488-4119G>T (n.3488-4119G>T)
c.5078G>T (p.Gly1693Val)
c.4532G>T (p.Gly1511Val)
c.4580-4119G>T (n.4580-4119G>T)
c.4259G>T (p.Gly1420Val)
c.3761-4119G>T (n.3761-4119G>T)
c.3710G>T (p.Gly1237Val)
c.5624G>T (p.Gly1875Val)
c.5348G>T (p.Gly1783Val)
9g.115046460C=CA1874118877TNCc.318-4119G=
c.3215-4119G= (n.3215-4119G=)
c.3986G= (p.Gly1329=)
c.2018G= (p.Gly673=)
c.674G= (p.Gly225=)
c.4033G=
c.5075G= (p.Gly1692=)
c.4529G= (p.Gly1510=)
c.4307-4119G= (n.4307-4119G=)
n.253-4119G=
n.40-4119G=
c.762G=
c.4802G= (p.Gly1601=)
c.4034-4119G= (n.4034-4119G=)
c.3437G= (p.Gly1146=)
c.5351G= (p.Gly1784=)
c.3488-4119G= (n.3488-4119G=)
c.5078G= (p.Gly1693=)
c.4532G= (p.Gly1511=)
c.4580-4119G= (n.4580-4119G=)
c.4259G= (p.Gly1420=)
c.3761-4119G= (n.3761-4119G=)
c.3710G= (p.Gly1237=)
c.5624G= (p.Gly1875=)
c.5348G= (p.Gly1783=)
9g.115046460C>GCA374630672TNCc.318-4119G>C
c.3215-4119G>C (n.3215-4119G>C)
c.3986G>C (p.Gly1329Ala)
c.2018G>C (p.Gly673Ala)
c.674G>C (p.Gly225Ala)
c.4033G>C
c.5075G>C (p.Gly1692Ala)
c.4529G>C (p.Gly1510Ala)
c.4307-4119G>C (n.4307-4119G>C)
n.253-4119G>C
n.40-4119G>C
c.762G>C
c.4802G>C (p.Gly1601Ala)
c.4034-4119G>C (n.4034-4119G>C)
c.3437G>C (p.Gly1146Ala)
c.5351G>C (p.Gly1784Ala)
c.3488-4119G>C (n.3488-4119G>C)
c.5078G>C (p.Gly1693Ala)
c.4532G>C (p.Gly1511Ala)
c.4580-4119G>C (n.4580-4119G>C)
c.4259G>C (p.Gly1420Ala)
c.3761-4119G>C (n.3761-4119G>C)
c.3710G>C (p.Gly1237Ala)
c.5624G>C (p.Gly1875Ala)
c.5348G>C (p.Gly1783Ala)
 dbSNP
9g.115046460C>TCA374630673TNCc.318-4119G>A
c.3215-4119G>A (n.3215-4119G>A)
c.3986G>A (p.Gly1329Glu)
c.2018G>A (p.Gly673Glu)
c.674G>A (p.Gly225Glu)
c.4033G>A
c.5075G>A (p.Gly1692Glu)
c.4529G>A (p.Gly1510Glu)
c.4307-4119G>A (n.4307-4119G>A)
n.253-4119G>A
n.40-4119G>A
c.762G>A
c.4802G>A (p.Gly1601Glu)
c.4034-4119G>A (n.4034-4119G>A)
c.3437G>A (p.Gly1146Glu)
c.5351G>A (p.Gly1784Glu)
c.3488-4119G>A (n.3488-4119G>A)
c.5078G>A (p.Gly1693Glu)
c.4532G>A (p.Gly1511Glu)
c.4580-4119G>A (n.4580-4119G>A)
c.4259G>A (p.Gly1420Glu)
c.3761-4119G>A (n.3761-4119G>A)
c.3710G>A (p.Gly1237Glu)
c.5624G>A (p.Gly1875Glu)
c.5348G>A (p.Gly1783Glu)
9g.115046461C>ACA374630678TNCc.318-4120G>T
c.3215-4120G>T (n.3215-4120G>T)
c.3985G>T (p.Gly1329Ter)
c.2017G>T (p.Gly673Ter)
c.673G>T (p.Gly225Ter)
c.4032G>T
c.5074G>T (p.Gly1692Ter)
c.4528G>T (p.Gly1510Ter)
c.4307-4120G>T (n.4307-4120G>T)
n.253-4120G>T
n.40-4120G>T
c.761G>T
c.4801G>T (p.Gly1601Ter)
c.4034-4120G>T (n.4034-4120G>T)
c.3436G>T (p.Gly1146Ter)
c.5350G>T (p.Gly1784Ter)
c.3488-4120G>T (n.3488-4120G>T)
c.5077G>T (p.Gly1693Ter)
c.4531G>T (p.Gly1511Ter)
c.4580-4120G>T (n.4580-4120G>T)
c.4258G>T (p.Gly1420Ter)
c.3761-4120G>T (n.3761-4120G>T)
c.3709G>T (p.Gly1237Ter)
c.5623G>T (p.Gly1875Ter)
c.5347G>T (p.Gly1783Ter)
 COSMIC
9g.115046461C>GCA374630680TNCc.318-4120G>C
c.3215-4120G>C (n.3215-4120G>C)
c.3985G>C (p.Gly1329Arg)
c.2017G>C (p.Gly673Arg)
c.673G>C (p.Gly225Arg)
c.4032G>C
c.5074G>C (p.Gly1692Arg)
c.4528G>C (p.Gly1510Arg)
c.4307-4120G>C (n.4307-4120G>C)
n.253-4120G>C
n.40-4120G>C
c.761G>C
c.4801G>C (p.Gly1601Arg)
c.4034-4120G>C (n.4034-4120G>C)
c.3436G>C (p.Gly1146Arg)
c.5350G>C (p.Gly1784Arg)
c.3488-4120G>C (n.3488-4120G>C)
c.5077G>C (p.Gly1693Arg)
c.4531G>C (p.Gly1511Arg)
c.4580-4120G>C (n.4580-4120G>C)
c.4258G>C (p.Gly1420Arg)
c.3761-4120G>C (n.3761-4120G>C)
c.3709G>C (p.Gly1237Arg)
c.5623G>C (p.Gly1875Arg)
c.5347G>C (p.Gly1783Arg)
9g.115046461C>TCA374630676TNCc.318-4120G>A
c.3215-4120G>A (n.3215-4120G>A)
c.3985G>A (p.Gly1329Arg)
c.2017G>A (p.Gly673Arg)
c.673G>A (p.Gly225Arg)
c.4032G>A
c.5074G>A (p.Gly1692Arg)
c.4528G>A (p.Gly1510Arg)
c.4307-4120G>A (n.4307-4120G>A)
n.253-4120G>A
n.40-4120G>A
c.761G>A
c.4801G>A (p.Gly1601Arg)
c.4034-4120G>A (n.4034-4120G>A)
c.3436G>A (p.Gly1146Arg)
c.5350G>A (p.Gly1784Arg)
c.3488-4120G>A (n.3488-4120G>A)
c.5077G>A (p.Gly1693Arg)
c.4531G>A (p.Gly1511Arg)
c.4580-4120G>A (n.4580-4120G>A)
c.4258G>A (p.Gly1420Arg)
c.3761-4120G>A (n.3761-4120G>A)
c.3709G>A (p.Gly1237Arg)
c.5623G>A (p.Gly1875Arg)
c.5347G>A (p.Gly1783Arg)
9g.115046462A=CA1874118878TNCc.318-4121T=
c.3215-4121T= (n.3215-4121T=)
c.3984T= (p.Tyr1328=)
c.2016T= (p.Tyr672=)
c.672T= (p.Tyr224=)
c.4031T=
c.5073T= (p.Tyr1691=)
c.4527T= (p.Tyr1509=)
c.4307-4121T= (n.4307-4121T=)
n.253-4121T=
n.40-4121T=
c.760T=
c.4800T= (p.Tyr1600=)
c.4034-4121T= (n.4034-4121T=)
c.3435T= (p.Tyr1145=)
c.5349T= (p.Tyr1783=)
c.3488-4121T= (n.3488-4121T=)
c.5076T= (p.Tyr1692=)
c.4530T= (p.Tyr1510=)
c.4580-4121T= (n.4580-4121T=)
c.4257T= (p.Tyr1419=)
c.3761-4121T= (n.3761-4121T=)
c.3708T= (p.Tyr1236=)
c.5622T= (p.Tyr1874=)
c.5346T= (p.Tyr1782=)
9g.115046462A>CCA374630682TNCc.318-4121T>G
c.3215-4121T>G (n.3215-4121T>G)
c.3984T>G (p.Tyr1328Ter)
c.2016T>G (p.Tyr672Ter)
c.672T>G (p.Tyr224Ter)
c.4031T>G
c.5073T>G (p.Tyr1691Ter)
c.4527T>G (p.Tyr1509Ter)
c.4307-4121T>G (n.4307-4121T>G)
n.253-4121T>G
n.40-4121T>G
c.760T>G
c.4800T>G (p.Tyr1600Ter)
c.4034-4121T>G (n.4034-4121T>G)
c.3435T>G (p.Tyr1145Ter)
c.5349T>G (p.Tyr1783Ter)
c.3488-4121T>G (n.3488-4121T>G)
c.5076T>G (p.Tyr1692Ter)
c.4530T>G (p.Tyr1510Ter)
c.4580-4121T>G (n.4580-4121T>G)
c.4257T>G (p.Tyr1419Ter)
c.3761-4121T>G (n.3761-4121T>G)
c.3708T>G (p.Tyr1236Ter)
c.5622T>G (p.Tyr1874Ter)
c.5346T>G (p.Tyr1782Ter)
9g.115046462A>GCA466912364TNCc.318-4121T>C
c.3215-4121T>C (n.3215-4121T>C)
c.3984T>C (p.Tyr1328=)
c.2016T>C (p.Tyr672=)
c.672T>C (p.Tyr224=)
c.4031T>C
c.5073T>C (p.Tyr1691=)
c.4527T>C (p.Tyr1509=)
c.4307-4121T>C (n.4307-4121T>C)
n.253-4121T>C
n.40-4121T>C
c.760T>C
c.4800T>C (p.Tyr1600=)
c.4034-4121T>C (n.4034-4121T>C)
c.3435T>C (p.Tyr1145=)
c.5349T>C (p.Tyr1783=)
c.3488-4121T>C (n.3488-4121T>C)
c.5076T>C (p.Tyr1692=)
c.4530T>C (p.Tyr1510=)
c.4580-4121T>C (n.4580-4121T>C)
c.4257T>C (p.Tyr1419=)
c.3761-4121T>C (n.3761-4121T>C)
c.3708T>C (p.Tyr1236=)
c.5622T>C (p.Tyr1874=)
c.5346T>C (p.Tyr1782=)
9g.115046462A>TCA5207763TNCc.318-4121T>A
c.3215-4121T>A (n.3215-4121T>A)
c.3984T>A (p.Tyr1328Ter)
c.2016T>A (p.Tyr672Ter)
c.672T>A (p.Tyr224Ter)
c.4031T>A
c.5073T>A (p.Tyr1691Ter)
c.4527T>A (p.Tyr1509Ter)
c.4307-4121T>A (n.4307-4121T>A)
n.253-4121T>A
n.40-4121T>A
c.760T>A
c.4800T>A (p.Tyr1600Ter)
c.4034-4121T>A (n.4034-4121T>A)
c.3435T>A (p.Tyr1145Ter)
c.5349T>A (p.Tyr1783Ter)
c.3488-4121T>A (n.3488-4121T>A)
c.5076T>A (p.Tyr1692Ter)
c.4530T>A (p.Tyr1510Ter)
c.4580-4121T>A (n.4580-4121T>A)
c.4257T>A (p.Tyr1419Ter)
c.3761-4121T>A (n.3761-4121T>A)
c.3708T>A (p.Tyr1236Ter)
c.5622T>A (p.Tyr1874Ter)
c.5346T>A (p.Tyr1782Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046463T>ACA374630685TNCc.318-4122A>T
c.3215-4122A>T (n.3215-4122A>T)
c.3983A>T (p.Tyr1328Phe)
c.2015A>T (p.Tyr672Phe)
c.671A>T (p.Tyr224Phe)
c.4030A>T
c.5072A>T (p.Tyr1691Phe)
c.4526A>T (p.Tyr1509Phe)
c.4307-4122A>T (n.4307-4122A>T)
n.253-4122A>T
n.40-4122A>T
c.759A>T
c.4799A>T (p.Tyr1600Phe)
c.4034-4122A>T (n.4034-4122A>T)
c.3434A>T (p.Tyr1145Phe)
c.5348A>T (p.Tyr1783Phe)
c.3488-4122A>T (n.3488-4122A>T)
c.5075A>T (p.Tyr1692Phe)
c.4529A>T (p.Tyr1510Phe)
c.4580-4122A>T (n.4580-4122A>T)
c.4256A>T (p.Tyr1419Phe)
c.3761-4122A>T (n.3761-4122A>T)
c.3707A>T (p.Tyr1236Phe)
c.5621A>T (p.Tyr1874Phe)
c.5345A>T (p.Tyr1782Phe)
9g.115046463T>CCA374630689TNCc.318-4122A>G
c.3215-4122A>G (n.3215-4122A>G)
c.3983A>G (p.Tyr1328Cys)
c.2015A>G (p.Tyr672Cys)
c.671A>G (p.Tyr224Cys)
c.4030A>G
c.5072A>G (p.Tyr1691Cys)
c.4526A>G (p.Tyr1509Cys)
c.4307-4122A>G (n.4307-4122A>G)
n.253-4122A>G
n.40-4122A>G
c.759A>G
c.4799A>G (p.Tyr1600Cys)
c.4034-4122A>G (n.4034-4122A>G)
c.3434A>G (p.Tyr1145Cys)
c.5348A>G (p.Tyr1783Cys)
c.3488-4122A>G (n.3488-4122A>G)
c.5075A>G (p.Tyr1692Cys)
c.4529A>G (p.Tyr1510Cys)
c.4580-4122A>G (n.4580-4122A>G)
c.4256A>G (p.Tyr1419Cys)
c.3761-4122A>G (n.3761-4122A>G)
c.3707A>G (p.Tyr1236Cys)
c.5621A>G (p.Tyr1874Cys)
c.5345A>G (p.Tyr1782Cys)
9g.115046463T>GCA374630687TNCc.318-4122A>C
c.3215-4122A>C (n.3215-4122A>C)
c.3983A>C (p.Tyr1328Ser)
c.2015A>C (p.Tyr672Ser)
c.671A>C (p.Tyr224Ser)
c.4030A>C
c.5072A>C (p.Tyr1691Ser)
c.4526A>C (p.Tyr1509Ser)
c.4307-4122A>C (n.4307-4122A>C)
n.253-4122A>C
n.40-4122A>C
c.759A>C
c.4799A>C (p.Tyr1600Ser)
c.4034-4122A>C (n.4034-4122A>C)
c.3434A>C (p.Tyr1145Ser)
c.5348A>C (p.Tyr1783Ser)
c.3488-4122A>C (n.3488-4122A>C)
c.5075A>C (p.Tyr1692Ser)
c.4529A>C (p.Tyr1510Ser)
c.4580-4122A>C (n.4580-4122A>C)
c.4256A>C (p.Tyr1419Ser)
c.3761-4122A>C (n.3761-4122A>C)
c.3707A>C (p.Tyr1236Ser)
c.5621A>C (p.Tyr1874Ser)
c.5345A>C (p.Tyr1782Ser)
9g.115046464A>CCA374630692TNCc.318-4123T>G
c.3215-4123T>G (n.3215-4123T>G)
c.3982T>G (p.Tyr1328Asp)
c.2014T>G (p.Tyr672Asp)
c.670T>G (p.Tyr224Asp)
c.4029T>G
c.5071T>G (p.Tyr1691Asp)
c.4525T>G (p.Tyr1509Asp)
c.4307-4123T>G (n.4307-4123T>G)
n.253-4123T>G
n.40-4123T>G
c.758T>G
c.4798T>G (p.Tyr1600Asp)
c.4034-4123T>G (n.4034-4123T>G)
c.3433T>G (p.Tyr1145Asp)
c.5347T>G (p.Tyr1783Asp)
c.3488-4123T>G (n.3488-4123T>G)
c.5074T>G (p.Tyr1692Asp)
c.4528T>G (p.Tyr1510Asp)
c.4580-4123T>G (n.4580-4123T>G)
c.4255T>G (p.Tyr1419Asp)
c.3761-4123T>G (n.3761-4123T>G)
c.3706T>G (p.Tyr1236Asp)
c.5620T>G (p.Tyr1874Asp)
c.5344T>G (p.Tyr1782Asp)
9g.115046464A>GCA374630694TNCc.318-4123T>C
c.3215-4123T>C (n.3215-4123T>C)
c.3982T>C (p.Tyr1328His)
c.2014T>C (p.Tyr672His)
c.670T>C (p.Tyr224His)
c.4029T>C
c.5071T>C (p.Tyr1691His)
c.4525T>C (p.Tyr1509His)
c.4307-4123T>C (n.4307-4123T>C)
n.253-4123T>C
n.40-4123T>C
c.758T>C
c.4798T>C (p.Tyr1600His)
c.4034-4123T>C (n.4034-4123T>C)
c.3433T>C (p.Tyr1145His)
c.5347T>C (p.Tyr1783His)
c.3488-4123T>C (n.3488-4123T>C)
c.5074T>C (p.Tyr1692His)
c.4528T>C (p.Tyr1510His)
c.4580-4123T>C (n.4580-4123T>C)
c.4255T>C (p.Tyr1419His)
c.3761-4123T>C (n.3761-4123T>C)
c.3706T>C (p.Tyr1236His)
c.5620T>C (p.Tyr1874His)
c.5344T>C (p.Tyr1782His)
 gnomAD v4
9g.115046464A>TCA374630695TNCc.318-4123T>A
c.3215-4123T>A (n.3215-4123T>A)
c.3982T>A (p.Tyr1328Asn)
c.2014T>A (p.Tyr672Asn)
c.670T>A (p.Tyr224Asn)
c.4029T>A
c.5071T>A (p.Tyr1691Asn)
c.4525T>A (p.Tyr1509Asn)
c.4307-4123T>A (n.4307-4123T>A)
n.253-4123T>A
n.40-4123T>A
c.758T>A
c.4798T>A (p.Tyr1600Asn)
c.4034-4123T>A (n.4034-4123T>A)
c.3433T>A (p.Tyr1145Asn)
c.5347T>A (p.Tyr1783Asn)
c.3488-4123T>A (n.3488-4123T>A)
c.5074T>A (p.Tyr1692Asn)
c.4528T>A (p.Tyr1510Asn)
c.4580-4123T>A (n.4580-4123T>A)
c.4255T>A (p.Tyr1419Asn)
c.3761-4123T>A (n.3761-4123T>A)
c.3706T>A (p.Tyr1236Asn)
c.5620T>A (p.Tyr1874Asn)
c.5344T>A (p.Tyr1782Asn)
9g.115046465G>ACA466912368TNCc.318-4124C>T
c.3215-4124C>T (n.3215-4124C>T)
c.3981C>T (p.Leu1327=)
c.2013C>T (p.Leu671=)
c.669C>T (p.Leu223=)
c.4028C>T
c.5070C>T (p.Leu1690=)
c.4524C>T (p.Leu1508=)
c.4307-4124C>T (n.4307-4124C>T)
n.253-4124C>T
n.40-4124C>T
c.757C>T
c.4797C>T (p.Leu1599=)
c.4034-4124C>T (n.4034-4124C>T)
c.3432C>T (p.Leu1144=)
c.5346C>T (p.Leu1782=)
c.3488-4124C>T (n.3488-4124C>T)
c.5073C>T (p.Leu1691=)
c.4527C>T (p.Leu1509=)
c.4580-4124C>T (n.4580-4124C>T)
c.4254C>T (p.Leu1418=)
c.3761-4124C>T (n.3761-4124C>T)
c.3705C>T (p.Leu1235=)
c.5619C>T (p.Leu1873=)
c.5343C>T (p.Leu1781=)
9g.115046465G>CCA466912369TNCc.318-4124C>G
c.3215-4124C>G (n.3215-4124C>G)
c.3981C>G (p.Leu1327=)
c.2013C>G (p.Leu671=)
c.669C>G (p.Leu223=)
c.4028C>G
c.5070C>G (p.Leu1690=)
c.4524C>G (p.Leu1508=)
c.4307-4124C>G (n.4307-4124C>G)
n.253-4124C>G
n.40-4124C>G
c.757C>G
c.4797C>G (p.Leu1599=)
c.4034-4124C>G (n.4034-4124C>G)
c.3432C>G (p.Leu1144=)
c.5346C>G (p.Leu1782=)
c.3488-4124C>G (n.3488-4124C>G)
c.5073C>G (p.Leu1691=)
c.4527C>G (p.Leu1509=)
c.4580-4124C>G (n.4580-4124C>G)
c.4254C>G (p.Leu1418=)
c.3761-4124C>G (n.3761-4124C>G)
c.3705C>G (p.Leu1235=)
c.5619C>G (p.Leu1873=)
c.5343C>G (p.Leu1781=)
9g.115046465G>TCA466912370TNCc.318-4124C>A
c.3215-4124C>A (n.3215-4124C>A)
c.3981C>A (p.Leu1327=)
c.2013C>A (p.Leu671=)
c.669C>A (p.Leu223=)
c.4028C>A
c.5070C>A (p.Leu1690=)
c.4524C>A (p.Leu1508=)
c.4307-4124C>A (n.4307-4124C>A)
n.253-4124C>A
n.40-4124C>A
c.757C>A
c.4797C>A (p.Leu1599=)
c.4034-4124C>A (n.4034-4124C>A)
c.3432C>A (p.Leu1144=)
c.5346C>A (p.Leu1782=)
c.3488-4124C>A (n.3488-4124C>A)
c.5073C>A (p.Leu1691=)
c.4527C>A (p.Leu1509=)
c.4580-4124C>A (n.4580-4124C>A)
c.4254C>A (p.Leu1418=)
c.3761-4124C>A (n.3761-4124C>A)
c.3705C>A (p.Leu1235=)
c.5619C>A (p.Leu1873=)
c.5343C>A (p.Leu1781=)
9g.115046466A>CCA374630697TNCc.318-4125T>G
c.3215-4125T>G (n.3215-4125T>G)
c.3980T>G (p.Leu1327Arg)
c.2012T>G (p.Leu671Arg)
c.668T>G (p.Leu223Arg)
c.4027T>G
c.5069T>G (p.Leu1690Arg)
c.4523T>G (p.Leu1508Arg)
c.4307-4125T>G (n.4307-4125T>G)
n.253-4125T>G
n.40-4125T>G
c.756T>G
c.4796T>G (p.Leu1599Arg)
c.4034-4125T>G (n.4034-4125T>G)
c.3431T>G (p.Leu1144Arg)
c.5345T>G (p.Leu1782Arg)
c.3488-4125T>G (n.3488-4125T>G)
c.5072T>G (p.Leu1691Arg)
c.4526T>G (p.Leu1509Arg)
c.4580-4125T>G (n.4580-4125T>G)
c.4253T>G (p.Leu1418Arg)
c.3761-4125T>G (n.3761-4125T>G)
c.3704T>G (p.Leu1235Arg)
c.5618T>G (p.Leu1873Arg)
c.5342T>G (p.Leu1781Arg)
9g.115046466A>GCA374630698TNCc.318-4125T>C
c.3215-4125T>C (n.3215-4125T>C)
c.3980T>C (p.Leu1327Pro)
c.2012T>C (p.Leu671Pro)
c.668T>C (p.Leu223Pro)
c.4027T>C
c.5069T>C (p.Leu1690Pro)
c.4523T>C (p.Leu1508Pro)
c.4307-4125T>C (n.4307-4125T>C)
n.253-4125T>C
n.40-4125T>C
c.756T>C
c.4796T>C (p.Leu1599Pro)
c.4034-4125T>C (n.4034-4125T>C)
c.3431T>C (p.Leu1144Pro)
c.5345T>C (p.Leu1782Pro)
c.3488-4125T>C (n.3488-4125T>C)
c.5072T>C (p.Leu1691Pro)
c.4526T>C (p.Leu1509Pro)
c.4580-4125T>C (n.4580-4125T>C)
c.4253T>C (p.Leu1418Pro)
c.3761-4125T>C (n.3761-4125T>C)
c.3704T>C (p.Leu1235Pro)
c.5618T>C (p.Leu1873Pro)
c.5342T>C (p.Leu1781Pro)
9g.115046466A>TCA374630700TNCc.318-4125T>A
c.3215-4125T>A (n.3215-4125T>A)
c.3980T>A (p.Leu1327His)
c.2012T>A (p.Leu671His)
c.668T>A (p.Leu223His)
c.4027T>A
c.5069T>A (p.Leu1690His)
c.4523T>A (p.Leu1508His)
c.4307-4125T>A (n.4307-4125T>A)
n.253-4125T>A
n.40-4125T>A
c.756T>A
c.4796T>A (p.Leu1599His)
c.4034-4125T>A (n.4034-4125T>A)
c.3431T>A (p.Leu1144His)
c.5345T>A (p.Leu1782His)
c.3488-4125T>A (n.3488-4125T>A)
c.5072T>A (p.Leu1691His)
c.4526T>A (p.Leu1509His)
c.4580-4125T>A (n.4580-4125T>A)
c.4253T>A (p.Leu1418His)
c.3761-4125T>A (n.3761-4125T>A)
c.3704T>A (p.Leu1235His)
c.5618T>A (p.Leu1873His)
c.5342T>A (p.Leu1781His)
9g.115046467G>ACA5207764TNCc.318-4126C>T
c.3215-4126C>T (n.3215-4126C>T)
c.3979C>T (p.Leu1327Phe)
c.2011C>T (p.Leu671Phe)
c.667C>T (p.Leu223Phe)
c.4026C>T
c.5068C>T (p.Leu1690Phe)
c.4522C>T (p.Leu1508Phe)
c.4307-4126C>T (n.4307-4126C>T)
n.386C>T
n.253-4126C>T
n.40-4126C>T
c.755C>T
c.4795C>T (p.Leu1599Phe)
c.4034-4126C>T (n.4034-4126C>T)
c.3430C>T (p.Leu1144Phe)
c.5344C>T (p.Leu1782Phe)
c.3488-4126C>T (n.3488-4126C>T)
c.5071C>T (p.Leu1691Phe)
c.4525C>T (p.Leu1509Phe)
c.4580-4126C>T (n.4580-4126C>T)
c.4252C>T (p.Leu1418Phe)
c.3761-4126C>T (n.3761-4126C>T)
c.3703C>T (p.Leu1235Phe)
c.5617C>T (p.Leu1873Phe)
c.5341C>T (p.Leu1781Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046467G>CCA374630703TNCc.318-4126C>G
c.3215-4126C>G (n.3215-4126C>G)
c.3979C>G (p.Leu1327Val)
c.2011C>G (p.Leu671Val)
c.667C>G (p.Leu223Val)
c.4026C>G
c.5068C>G (p.Leu1690Val)
c.4522C>G (p.Leu1508Val)
c.4307-4126C>G (n.4307-4126C>G)
n.386C>G
n.253-4126C>G
n.40-4126C>G
c.755C>G
c.4795C>G (p.Leu1599Val)
c.4034-4126C>G (n.4034-4126C>G)
c.3430C>G (p.Leu1144Val)
c.5344C>G (p.Leu1782Val)
c.3488-4126C>G (n.3488-4126C>G)
c.5071C>G (p.Leu1691Val)
c.4525C>G (p.Leu1509Val)
c.4580-4126C>G (n.4580-4126C>G)
c.4252C>G (p.Leu1418Val)
c.3761-4126C>G (n.3761-4126C>G)
c.3703C>G (p.Leu1235Val)
c.5617C>G (p.Leu1873Val)
c.5341C>G (p.Leu1781Val)
9g.115046467G=CA1874118879TNCc.318-4126C=
c.3215-4126C= (n.3215-4126C=)
c.3979C= (p.Leu1327=)
c.2011C= (p.Leu671=)
c.667C= (p.Leu223=)
c.4026C=
c.5068C= (p.Leu1690=)
c.4522C= (p.Leu1508=)
c.4307-4126C= (n.4307-4126C=)
n.386C=
n.253-4126C=
n.40-4126C=
c.755C=
c.4795C= (p.Leu1599=)
c.4034-4126C= (n.4034-4126C=)
c.3430C= (p.Leu1144=)
c.5344C= (p.Leu1782=)
c.3488-4126C= (n.3488-4126C=)
c.5071C= (p.Leu1691=)
c.4525C= (p.Leu1509=)
c.4580-4126C= (n.4580-4126C=)
c.4252C= (p.Leu1418=)
c.3761-4126C= (n.3761-4126C=)
c.3703C= (p.Leu1235=)
c.5617C= (p.Leu1873=)
c.5341C= (p.Leu1781=)
9g.115046467G>TCA374630705TNCc.318-4126C>A
c.3215-4126C>A (n.3215-4126C>A)
c.3979C>A (p.Leu1327Ile)
c.2011C>A (p.Leu671Ile)
c.667C>A (p.Leu223Ile)
c.4026C>A
c.5068C>A (p.Leu1690Ile)
c.4522C>A (p.Leu1508Ile)
c.4307-4126C>A (n.4307-4126C>A)
n.386C>A
n.253-4126C>A
n.40-4126C>A
c.755C>A
c.4795C>A (p.Leu1599Ile)
c.4034-4126C>A (n.4034-4126C>A)
c.3430C>A (p.Leu1144Ile)
c.5344C>A (p.Leu1782Ile)
c.3488-4126C>A (n.3488-4126C>A)
c.5071C>A (p.Leu1691Ile)
c.4525C>A (p.Leu1509Ile)
c.4580-4126C>A (n.4580-4126C>A)
c.4252C>A (p.Leu1418Ile)
c.3761-4126C>A (n.3761-4126C>A)
c.3703C>A (p.Leu1235Ile)
c.5617C>A (p.Leu1873Ile)
c.5341C>A (p.Leu1781Ile)
9g.115046468T>ACA374630707TNCc.318-4127A>T
c.3215-4127A>T (n.3215-4127A>T)
c.3978A>T (p.Glu1326Asp)
c.2010A>T (p.Glu670Asp)
c.666A>T (p.Glu222Asp)
c.4025A>T
c.5067A>T (p.Glu1689Asp)
c.4521A>T (p.Glu1507Asp)
c.4307-4127A>T (n.4307-4127A>T)
n.385A>T
n.253-4127A>T
n.40-4127A>T
c.754A>T
c.4794A>T (p.Glu1598Asp)
c.4034-4127A>T (n.4034-4127A>T)
c.3429A>T (p.Glu1143Asp)
c.5343A>T (p.Glu1781Asp)
c.3488-4127A>T (n.3488-4127A>T)
c.5070A>T (p.Glu1690Asp)
c.4524A>T (p.Glu1508Asp)
c.4580-4127A>T (n.4580-4127A>T)
c.4251A>T (p.Glu1417Asp)
c.3761-4127A>T (n.3761-4127A>T)
c.3702A>T (p.Glu1234Asp)
c.5616A>T (p.Glu1872Asp)
c.5340A>T (p.Glu1780Asp)
9g.115046468T>CCA466912373TNCc.318-4127A>G
c.3215-4127A>G (n.3215-4127A>G)
c.3978A>G (p.Glu1326=)
c.2010A>G (p.Glu670=)
c.666A>G (p.Glu222=)
c.4025A>G
c.5067A>G (p.Glu1689=)
c.4521A>G (p.Glu1507=)
c.4307-4127A>G (n.4307-4127A>G)
n.385A>G
n.253-4127A>G
n.40-4127A>G
c.754A>G
c.4794A>G (p.Glu1598=)
c.4034-4127A>G (n.4034-4127A>G)
c.3429A>G (p.Glu1143=)
c.5343A>G (p.Glu1781=)
c.3488-4127A>G (n.3488-4127A>G)
c.5070A>G (p.Glu1690=)
c.4524A>G (p.Glu1508=)
c.4580-4127A>G (n.4580-4127A>G)
c.4251A>G (p.Glu1417=)
c.3761-4127A>G (n.3761-4127A>G)
c.3702A>G (p.Glu1234=)
c.5616A>G (p.Glu1872=)
c.5340A>G (p.Glu1780=)
 dbSNP gnomAD v3 gnomAD v4
9g.115046468T>GCA374630709TNCc.318-4127A>C
c.3215-4127A>C (n.3215-4127A>C)
c.3978A>C (p.Glu1326Asp)
c.2010A>C (p.Glu670Asp)
c.666A>C (p.Glu222Asp)
c.4025A>C
c.5067A>C (p.Glu1689Asp)
c.4521A>C (p.Glu1507Asp)
c.4307-4127A>C (n.4307-4127A>C)
n.385A>C
n.253-4127A>C
n.40-4127A>C
c.754A>C
c.4794A>C (p.Glu1598Asp)
c.4034-4127A>C (n.4034-4127A>C)
c.3429A>C (p.Glu1143Asp)
c.5343A>C (p.Glu1781Asp)
c.3488-4127A>C (n.3488-4127A>C)
c.5070A>C (p.Glu1690Asp)
c.4524A>C (p.Glu1508Asp)
c.4580-4127A>C (n.4580-4127A>C)
c.4251A>C (p.Glu1417Asp)
c.3761-4127A>C (n.3761-4127A>C)
c.3702A>C (p.Glu1234Asp)
c.5616A>C (p.Glu1872Asp)
c.5340A>C (p.Glu1780Asp)
 COSMIC
9g.115046468T=CA1874118880TNCc.318-4127A=
c.3215-4127A= (n.3215-4127A=)
c.3978A= (p.Glu1326=)
c.2010A= (p.Glu670=)
c.666A= (p.Glu222=)
c.4025A=
c.5067A= (p.Glu1689=)
c.4521A= (p.Glu1507=)
c.4307-4127A= (n.4307-4127A=)
n.385A=
n.253-4127A=
n.40-4127A=
c.754A=
c.4794A= (p.Glu1598=)
c.4034-4127A= (n.4034-4127A=)
c.3429A= (p.Glu1143=)
c.5343A= (p.Glu1781=)
c.3488-4127A= (n.3488-4127A=)
c.5070A= (p.Glu1690=)
c.4524A= (p.Glu1508=)
c.4580-4127A= (n.4580-4127A=)
c.4251A= (p.Glu1417=)
c.3761-4127A= (n.3761-4127A=)
c.3702A= (p.Glu1234=)
c.5616A= (p.Glu1872=)
c.5340A= (p.Glu1780=)
9g.115046469T>ACA374630715TNCc.318-4128A>T
c.3215-4128A>T (n.3215-4128A>T)
c.3977A>T (p.Glu1326Val)
c.2009A>T (p.Glu670Val)
c.665A>T (p.Glu222Val)
c.4024A>T
c.5066A>T (p.Glu1689Val)
c.4520A>T (p.Glu1507Val)
c.4307-4128A>T (n.4307-4128A>T)
n.384A>T
n.253-4128A>T
n.40-4128A>T
c.753A>T
c.4793A>T (p.Glu1598Val)
c.4034-4128A>T (n.4034-4128A>T)
c.3428A>T (p.Glu1143Val)
c.5342A>T (p.Glu1781Val)
c.3488-4128A>T (n.3488-4128A>T)
c.5069A>T (p.Glu1690Val)
c.4523A>T (p.Glu1508Val)
c.4580-4128A>T (n.4580-4128A>T)
c.4250A>T (p.Glu1417Val)
c.3761-4128A>T (n.3761-4128A>T)
c.3701A>T (p.Glu1234Val)
c.5615A>T (p.Glu1872Val)
c.5339A>T (p.Glu1780Val)
9g.115046469T>CCA374630711TNCc.318-4128A>G
c.3215-4128A>G (n.3215-4128A>G)
c.3977A>G (p.Glu1326Gly)
c.2009A>G (p.Glu670Gly)
c.665A>G (p.Glu222Gly)
c.4024A>G
c.5066A>G (p.Glu1689Gly)
c.4520A>G (p.Glu1507Gly)
c.4307-4128A>G (n.4307-4128A>G)
n.384A>G
n.253-4128A>G
n.40-4128A>G
c.753A>G
c.4793A>G (p.Glu1598Gly)
c.4034-4128A>G (n.4034-4128A>G)
c.3428A>G (p.Glu1143Gly)
c.5342A>G (p.Glu1781Gly)
c.3488-4128A>G (n.3488-4128A>G)
c.5069A>G (p.Glu1690Gly)
c.4523A>G (p.Glu1508Gly)
c.4580-4128A>G (n.4580-4128A>G)
c.4250A>G (p.Glu1417Gly)
c.3761-4128A>G (n.3761-4128A>G)
c.3701A>G (p.Glu1234Gly)
c.5615A>G (p.Glu1872Gly)
c.5339A>G (p.Glu1780Gly)
9g.115046469T>GCA374630713TNCc.318-4128A>C
c.3215-4128A>C (n.3215-4128A>C)
c.3977A>C (p.Glu1326Ala)
c.2009A>C (p.Glu670Ala)
c.665A>C (p.Glu222Ala)
c.4024A>C
c.5066A>C (p.Glu1689Ala)
c.4520A>C (p.Glu1507Ala)
c.4307-4128A>C (n.4307-4128A>C)
n.384A>C
n.253-4128A>C
n.40-4128A>C
c.753A>C
c.4793A>C (p.Glu1598Ala)
c.4034-4128A>C (n.4034-4128A>C)
c.3428A>C (p.Glu1143Ala)
c.5342A>C (p.Glu1781Ala)
c.3488-4128A>C (n.3488-4128A>C)
c.5069A>C (p.Glu1690Ala)
c.4523A>C (p.Glu1508Ala)
c.4580-4128A>C (n.4580-4128A>C)
c.4250A>C (p.Glu1417Ala)
c.3761-4128A>C (n.3761-4128A>C)
c.3701A>C (p.Glu1234Ala)
c.5615A>C (p.Glu1872Ala)
c.5339A>C (p.Glu1780Ala)
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)

Number of alleles fetched