Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115046578dupCA5207779TNCc.318-4234dup
c.3215-4234dup (n.3215-4234dup)
c.3871dup (p.Ile1291AsnfsTer9)
c.1903dup (p.Ile635AsnfsTer9)
c.559dup (p.Ile187AsnfsTer9)
c.3918dup
c.4960dup (p.Ile1654AsnfsTer9)
c.4414dup (p.Ile1472AsnfsTer9)
c.4307-4234dup (n.4307-4234dup)
n.278dup
n.253-4234dup
n.40-4234dup
c.647dup
c.4687dup (p.Ile1563AsnfsTer9)
c.4034-4234dup (n.4034-4234dup)
c.3322dup (p.Ile1108AsnfsTer9)
c.5236dup (p.Ile1746AsnfsTer9)
c.3488-4234dup (n.3488-4234dup)
c.4963dup (p.Ile1655AsnfsTer9)
c.4417dup (p.Ile1473AsnfsTer9)
c.4580-4234dup (n.4580-4234dup)
c.4144dup (p.Ile1382AsnfsTer9)
c.3761-4234dup (n.3761-4234dup)
c.3595dup (p.Ile1199AsnfsTer9)
c.5509dup (p.Ile1837AsnfsTer9)
c.5233dup (p.Ile1745AsnfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046577T>ACA374631129TNCc.318-4236A>T
c.3215-4236A>T (n.3215-4236A>T)
c.3869A>T (p.Lys1290Ile)
c.1901A>T (p.Lys634Ile)
c.557A>T (p.Lys186Ile)
c.3916A>T
c.4958A>T (p.Lys1653Ile)
c.4412A>T (p.Lys1471Ile)
c.4307-4236A>T (n.4307-4236A>T)
n.276A>T
n.253-4236A>T
n.40-4236A>T
c.645A>T
c.4685A>T (p.Lys1562Ile)
c.4034-4236A>T (n.4034-4236A>T)
c.3320A>T (p.Lys1107Ile)
c.5234A>T (p.Lys1745Ile)
c.3488-4236A>T (n.3488-4236A>T)
c.4961A>T (p.Lys1654Ile)
c.4415A>T (p.Lys1472Ile)
c.4580-4236A>T (n.4580-4236A>T)
c.4142A>T (p.Lys1381Ile)
c.3761-4236A>T (n.3761-4236A>T)
c.3593A>T (p.Lys1198Ile)
c.5507A>T (p.Lys1836Ile)
c.5231A>T (p.Lys1744Ile)
9g.115046577T>CCA374631130TNCc.318-4236A>G
c.3215-4236A>G (n.3215-4236A>G)
c.3869A>G (p.Lys1290Arg)
c.1901A>G (p.Lys634Arg)
c.557A>G (p.Lys186Arg)
c.3916A>G
c.4958A>G (p.Lys1653Arg)
c.4412A>G (p.Lys1471Arg)
c.4307-4236A>G (n.4307-4236A>G)
n.276A>G
n.253-4236A>G
n.40-4236A>G
c.645A>G
c.4685A>G (p.Lys1562Arg)
c.4034-4236A>G (n.4034-4236A>G)
c.3320A>G (p.Lys1107Arg)
c.5234A>G (p.Lys1745Arg)
c.3488-4236A>G (n.3488-4236A>G)
c.4961A>G (p.Lys1654Arg)
c.4415A>G (p.Lys1472Arg)
c.4580-4236A>G (n.4580-4236A>G)
c.4142A>G (p.Lys1381Arg)
c.3761-4236A>G (n.3761-4236A>G)
c.3593A>G (p.Lys1198Arg)
c.5507A>G (p.Lys1836Arg)
c.5231A>G (p.Lys1744Arg)
9g.115046577T>GCA374631131TNCc.318-4236A>C
c.3215-4236A>C (n.3215-4236A>C)
c.3869A>C (p.Lys1290Thr)
c.1901A>C (p.Lys634Thr)
c.557A>C (p.Lys186Thr)
c.3916A>C
c.4958A>C (p.Lys1653Thr)
c.4412A>C (p.Lys1471Thr)
c.4307-4236A>C (n.4307-4236A>C)
n.276A>C
n.253-4236A>C
n.40-4236A>C
c.645A>C
c.4685A>C (p.Lys1562Thr)
c.4034-4236A>C (n.4034-4236A>C)
c.3320A>C (p.Lys1107Thr)
c.5234A>C (p.Lys1745Thr)
c.3488-4236A>C (n.3488-4236A>C)
c.4961A>C (p.Lys1654Thr)
c.4415A>C (p.Lys1472Thr)
c.4580-4236A>C (n.4580-4236A>C)
c.4142A>C (p.Lys1381Thr)
c.3761-4236A>C (n.3761-4236A>C)
c.3593A>C (p.Lys1198Thr)
c.5507A>C (p.Lys1836Thr)
c.5231A>C (p.Lys1744Thr)
 dbSNP gnomAD v4
9g.115046577T=CA1874118919TNCc.318-4236A=
c.3215-4236A= (n.3215-4236A=)
c.3869A= (p.Lys1290=)
c.1901A= (p.Lys634=)
c.557A= (p.Lys186=)
c.3916A=
c.4958A= (p.Lys1653=)
c.4412A= (p.Lys1471=)
c.4307-4236A= (n.4307-4236A=)
n.276A=
n.253-4236A=
n.40-4236A=
c.645A=
c.4685A= (p.Lys1562=)
c.4034-4236A= (n.4034-4236A=)
c.3320A= (p.Lys1107=)
c.5234A= (p.Lys1745=)
c.3488-4236A= (n.3488-4236A=)
c.4961A= (p.Lys1654=)
c.4415A= (p.Lys1472=)
c.4580-4236A= (n.4580-4236A=)
c.4142A= (p.Lys1381=)
c.3761-4236A= (n.3761-4236A=)
c.3593A= (p.Lys1198=)
c.5507A= (p.Lys1836=)
c.5231A= (p.Lys1744=)
9g.115046578T>ACA374631136TNCc.318-4237A>T
c.3215-4237A>T (n.3215-4237A>T)
c.3868A>T (p.Lys1290Ter)
c.1900A>T (p.Lys634Ter)
c.556A>T (p.Lys186Ter)
c.3915A>T
c.4957A>T (p.Lys1653Ter)
c.4411A>T (p.Lys1471Ter)
c.4307-4237A>T (n.4307-4237A>T)
n.275A>T
n.253-4237A>T
n.40-4237A>T
c.644A>T
c.4684A>T (p.Lys1562Ter)
c.4034-4237A>T (n.4034-4237A>T)
c.3319A>T (p.Lys1107Ter)
c.5233A>T (p.Lys1745Ter)
c.3488-4237A>T (n.3488-4237A>T)
c.4960A>T (p.Lys1654Ter)
c.4414A>T (p.Lys1472Ter)
c.4580-4237A>T (n.4580-4237A>T)
c.4141A>T (p.Lys1381Ter)
c.3761-4237A>T (n.3761-4237A>T)
c.3592A>T (p.Lys1198Ter)
c.5506A>T (p.Lys1836Ter)
c.5230A>T (p.Lys1744Ter)
9g.115046578T>CCA374631132TNCc.318-4237A>G
c.3215-4237A>G (n.3215-4237A>G)
c.3868A>G (p.Lys1290Glu)
c.1900A>G (p.Lys634Glu)
c.556A>G (p.Lys186Glu)
c.3915A>G
c.4957A>G (p.Lys1653Glu)
c.4411A>G (p.Lys1471Glu)
c.4307-4237A>G (n.4307-4237A>G)
n.275A>G
n.253-4237A>G
n.40-4237A>G
c.644A>G
c.4684A>G (p.Lys1562Glu)
c.4034-4237A>G (n.4034-4237A>G)
c.3319A>G (p.Lys1107Glu)
c.5233A>G (p.Lys1745Glu)
c.3488-4237A>G (n.3488-4237A>G)
c.4960A>G (p.Lys1654Glu)
c.4414A>G (p.Lys1472Glu)
c.4580-4237A>G (n.4580-4237A>G)
c.4141A>G (p.Lys1381Glu)
c.3761-4237A>G (n.3761-4237A>G)
c.3592A>G (p.Lys1198Glu)
c.5506A>G (p.Lys1836Glu)
c.5230A>G (p.Lys1744Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.115046578T>GCA374631134TNCc.318-4237A>C
c.3215-4237A>C (n.3215-4237A>C)
c.3868A>C (p.Lys1290Gln)
c.1900A>C (p.Lys634Gln)
c.556A>C (p.Lys186Gln)
c.3915A>C
c.4957A>C (p.Lys1653Gln)
c.4411A>C (p.Lys1471Gln)
c.4307-4237A>C (n.4307-4237A>C)
n.275A>C
n.253-4237A>C
n.40-4237A>C
c.644A>C
c.4684A>C (p.Lys1562Gln)
c.4034-4237A>C (n.4034-4237A>C)
c.3319A>C (p.Lys1107Gln)
c.5233A>C (p.Lys1745Gln)
c.3488-4237A>C (n.3488-4237A>C)
c.4960A>C (p.Lys1654Gln)
c.4414A>C (p.Lys1472Gln)
c.4580-4237A>C (n.4580-4237A>C)
c.4141A>C (p.Lys1381Gln)
c.3761-4237A>C (n.3761-4237A>C)
c.3592A>C (p.Lys1198Gln)
c.5506A>C (p.Lys1836Gln)
c.5230A>C (p.Lys1744Gln)
9g.115046578T=CA1874118920TNCc.318-4237A=
c.3215-4237A= (n.3215-4237A=)
c.3868A= (p.Lys1290=)
c.1900A= (p.Lys634=)
c.556A= (p.Lys186=)
c.3915A=
c.4957A= (p.Lys1653=)
c.4411A= (p.Lys1471=)
c.4307-4237A= (n.4307-4237A=)
n.275A=
n.253-4237A=
n.40-4237A=
c.644A=
c.4684A= (p.Lys1562=)
c.4034-4237A= (n.4034-4237A=)
c.3319A= (p.Lys1107=)
c.5233A= (p.Lys1745=)
c.3488-4237A= (n.3488-4237A=)
c.4960A= (p.Lys1654=)
c.4414A= (p.Lys1472=)
c.4580-4237A= (n.4580-4237A=)
c.4141A= (p.Lys1381=)
c.3761-4237A= (n.3761-4237A=)
c.3592A= (p.Lys1198=)
c.5506A= (p.Lys1836=)
c.5230A= (p.Lys1744=)
9g.115046579G>ACA5207780TNCc.318-4238C>T
c.3215-4238C>T (n.3215-4238C>T)
c.3867C>T (p.Leu1289=)
c.1899C>T (p.Leu633=)
c.555C>T (p.Leu185=)
c.3914C>T
c.4956C>T (p.Leu1652=)
c.4410C>T (p.Leu1470=)
c.4307-4238C>T (n.4307-4238C>T)
n.274C>T
n.253-4238C>T
n.40-4238C>T
c.643C>T
c.4683C>T (p.Leu1561=)
c.4034-4238C>T (n.4034-4238C>T)
c.3318C>T (p.Leu1106=)
c.5232C>T (p.Leu1744=)
c.3488-4238C>T (n.3488-4238C>T)
c.4959C>T (p.Leu1653=)
c.4413C>T (p.Leu1471=)
c.4580-4238C>T (n.4580-4238C>T)
c.4140C>T (p.Leu1380=)
c.3761-4238C>T (n.3761-4238C>T)
c.3591C>T (p.Leu1197=)
c.5505C>T (p.Leu1835=)
c.5229C>T (p.Leu1743=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046579G>CCA466912495TNCc.318-4238C>G
c.3215-4238C>G (n.3215-4238C>G)
c.3867C>G (p.Leu1289=)
c.1899C>G (p.Leu633=)
c.555C>G (p.Leu185=)
c.3914C>G
c.4956C>G (p.Leu1652=)
c.4410C>G (p.Leu1470=)
c.4307-4238C>G (n.4307-4238C>G)
n.274C>G
n.253-4238C>G
n.40-4238C>G
c.643C>G
c.4683C>G (p.Leu1561=)
c.4034-4238C>G (n.4034-4238C>G)
c.3318C>G (p.Leu1106=)
c.5232C>G (p.Leu1744=)
c.3488-4238C>G (n.3488-4238C>G)
c.4959C>G (p.Leu1653=)
c.4413C>G (p.Leu1471=)
c.4580-4238C>G (n.4580-4238C>G)
c.4140C>G (p.Leu1380=)
c.3761-4238C>G (n.3761-4238C>G)
c.3591C>G (p.Leu1197=)
c.5505C>G (p.Leu1835=)
c.5229C>G (p.Leu1743=)
9g.115046579G=CA1874118921TNCc.318-4238C=
c.3215-4238C= (n.3215-4238C=)
c.3867C= (p.Leu1289=)
c.1899C= (p.Leu633=)
c.555C= (p.Leu185=)
c.3914C=
c.4956C= (p.Leu1652=)
c.4410C= (p.Leu1470=)
c.4307-4238C= (n.4307-4238C=)
n.274C=
n.253-4238C=
n.40-4238C=
c.643C=
c.4683C= (p.Leu1561=)
c.4034-4238C= (n.4034-4238C=)
c.3318C= (p.Leu1106=)
c.5232C= (p.Leu1744=)
c.3488-4238C= (n.3488-4238C=)
c.4959C= (p.Leu1653=)
c.4413C= (p.Leu1471=)
c.4580-4238C= (n.4580-4238C=)
c.4140C= (p.Leu1380=)
c.3761-4238C= (n.3761-4238C=)
c.3591C= (p.Leu1197=)
c.5505C= (p.Leu1835=)
c.5229C= (p.Leu1743=)
9g.115046579G>TCA466912496TNCc.318-4238C>A
c.3215-4238C>A (n.3215-4238C>A)
c.3867C>A (p.Leu1289=)
c.1899C>A (p.Leu633=)
c.555C>A (p.Leu185=)
c.3914C>A
c.4956C>A (p.Leu1652=)
c.4410C>A (p.Leu1470=)
c.4307-4238C>A (n.4307-4238C>A)
n.274C>A
n.253-4238C>A
n.40-4238C>A
c.643C>A
c.4683C>A (p.Leu1561=)
c.4034-4238C>A (n.4034-4238C>A)
c.3318C>A (p.Leu1106=)
c.5232C>A (p.Leu1744=)
c.3488-4238C>A (n.3488-4238C>A)
c.4959C>A (p.Leu1653=)
c.4413C>A (p.Leu1471=)
c.4580-4238C>A (n.4580-4238C>A)
c.4140C>A (p.Leu1380=)
c.3761-4238C>A (n.3761-4238C>A)
c.3591C>A (p.Leu1197=)
c.5505C>A (p.Leu1835=)
c.5229C>A (p.Leu1743=)
9g.115046580A>CCA374631138TNCc.318-4239T>G
c.3215-4239T>G (n.3215-4239T>G)
c.3866T>G (p.Leu1289Arg)
c.1898T>G (p.Leu633Arg)
c.554T>G (p.Leu185Arg)
c.3913T>G
c.4955T>G (p.Leu1652Arg)
c.4409T>G (p.Leu1470Arg)
c.4307-4239T>G (n.4307-4239T>G)
n.273T>G
n.253-4239T>G
n.40-4239T>G
c.642T>G
c.4682T>G (p.Leu1561Arg)
c.4034-4239T>G (n.4034-4239T>G)
c.3317T>G (p.Leu1106Arg)
c.5231T>G (p.Leu1744Arg)
c.3488-4239T>G (n.3488-4239T>G)
c.4958T>G (p.Leu1653Arg)
c.4412T>G (p.Leu1471Arg)
c.4580-4239T>G (n.4580-4239T>G)
c.4139T>G (p.Leu1380Arg)
c.3761-4239T>G (n.3761-4239T>G)
c.3590T>G (p.Leu1197Arg)
c.5504T>G (p.Leu1835Arg)
c.5228T>G (p.Leu1743Arg)
 gnomAD v4
9g.115046580A>GCA374631139TNCc.318-4239T>C
c.3215-4239T>C (n.3215-4239T>C)
c.3866T>C (p.Leu1289Pro)
c.1898T>C (p.Leu633Pro)
c.554T>C (p.Leu185Pro)
c.3913T>C
c.4955T>C (p.Leu1652Pro)
c.4409T>C (p.Leu1470Pro)
c.4307-4239T>C (n.4307-4239T>C)
n.273T>C
n.253-4239T>C
n.40-4239T>C
c.642T>C
c.4682T>C (p.Leu1561Pro)
c.4034-4239T>C (n.4034-4239T>C)
c.3317T>C (p.Leu1106Pro)
c.5231T>C (p.Leu1744Pro)
c.3488-4239T>C (n.3488-4239T>C)
c.4958T>C (p.Leu1653Pro)
c.4412T>C (p.Leu1471Pro)
c.4580-4239T>C (n.4580-4239T>C)
c.4139T>C (p.Leu1380Pro)
c.3761-4239T>C (n.3761-4239T>C)
c.3590T>C (p.Leu1197Pro)
c.5504T>C (p.Leu1835Pro)
c.5228T>C (p.Leu1743Pro)
9g.115046580A>TCA374631141TNCc.318-4239T>A
c.3215-4239T>A (n.3215-4239T>A)
c.3866T>A (p.Leu1289His)
c.1898T>A (p.Leu633His)
c.554T>A (p.Leu185His)
c.3913T>A
c.4955T>A (p.Leu1652His)
c.4409T>A (p.Leu1470His)
c.4307-4239T>A (n.4307-4239T>A)
n.273T>A
n.253-4239T>A
n.40-4239T>A
c.642T>A
c.4682T>A (p.Leu1561His)
c.4034-4239T>A (n.4034-4239T>A)
c.3317T>A (p.Leu1106His)
c.5231T>A (p.Leu1744His)
c.3488-4239T>A (n.3488-4239T>A)
c.4958T>A (p.Leu1653His)
c.4412T>A (p.Leu1471His)
c.4580-4239T>A (n.4580-4239T>A)
c.4139T>A (p.Leu1380His)
c.3761-4239T>A (n.3761-4239T>A)
c.3590T>A (p.Leu1197His)
c.5504T>A (p.Leu1835His)
c.5228T>A (p.Leu1743His)
9g.115046581G>ACA374631143TNCc.318-4240C>T
c.3215-4240C>T (n.3215-4240C>T)
c.3865C>T (p.Leu1289Phe)
c.1897C>T (p.Leu633Phe)
c.553C>T (p.Leu185Phe)
c.3912C>T
c.4954C>T (p.Leu1652Phe)
c.4408C>T (p.Leu1470Phe)
c.4307-4240C>T (n.4307-4240C>T)
n.272C>T
n.253-4240C>T
n.40-4240C>T
c.641C>T
c.4681C>T (p.Leu1561Phe)
c.4034-4240C>T (n.4034-4240C>T)
c.3316C>T (p.Leu1106Phe)
c.5230C>T (p.Leu1744Phe)
c.3488-4240C>T (n.3488-4240C>T)
c.4957C>T (p.Leu1653Phe)
c.4411C>T (p.Leu1471Phe)
c.4580-4240C>T (n.4580-4240C>T)
c.4138C>T (p.Leu1380Phe)
c.3761-4240C>T (n.3761-4240C>T)
c.3589C>T (p.Leu1197Phe)
c.5503C>T (p.Leu1835Phe)
c.5227C>T (p.Leu1743Phe)
9g.115046581G>CCA374631144TNCc.318-4240C>G
c.3215-4240C>G (n.3215-4240C>G)
c.3865C>G (p.Leu1289Val)
c.1897C>G (p.Leu633Val)
c.553C>G (p.Leu185Val)
c.3912C>G
c.4954C>G (p.Leu1652Val)
c.4408C>G (p.Leu1470Val)
c.4307-4240C>G (n.4307-4240C>G)
n.272C>G
n.253-4240C>G
n.40-4240C>G
c.641C>G
c.4681C>G (p.Leu1561Val)
c.4034-4240C>G (n.4034-4240C>G)
c.3316C>G (p.Leu1106Val)
c.5230C>G (p.Leu1744Val)
c.3488-4240C>G (n.3488-4240C>G)
c.4957C>G (p.Leu1653Val)
c.4411C>G (p.Leu1471Val)
c.4580-4240C>G (n.4580-4240C>G)
c.4138C>G (p.Leu1380Val)
c.3761-4240C>G (n.3761-4240C>G)
c.3589C>G (p.Leu1197Val)
c.5503C>G (p.Leu1835Val)
c.5227C>G (p.Leu1743Val)
9g.115046581G>TCA374631146TNCc.318-4240C>A
c.3215-4240C>A (n.3215-4240C>A)
c.3865C>A (p.Leu1289Ile)
c.1897C>A (p.Leu633Ile)
c.553C>A (p.Leu185Ile)
c.3912C>A
c.4954C>A (p.Leu1652Ile)
c.4408C>A (p.Leu1470Ile)
c.4307-4240C>A (n.4307-4240C>A)
n.272C>A
n.253-4240C>A
n.40-4240C>A
c.641C>A
c.4681C>A (p.Leu1561Ile)
c.4034-4240C>A (n.4034-4240C>A)
c.3316C>A (p.Leu1106Ile)
c.5230C>A (p.Leu1744Ile)
c.3488-4240C>A (n.3488-4240C>A)
c.4957C>A (p.Leu1653Ile)
c.4411C>A (p.Leu1471Ile)
c.4580-4240C>A (n.4580-4240C>A)
c.4138C>A (p.Leu1380Ile)
c.3761-4240C>A (n.3761-4240C>A)
c.3589C>A (p.Leu1197Ile)
c.5503C>A (p.Leu1835Ile)
c.5227C>A (p.Leu1743Ile)
9g.115046582A=CA1874118922TNCc.318-4241T=
c.3215-4241T= (n.3215-4241T=)
c.3864T= (p.Val1288=)
c.1896T= (p.Val632=)
c.552T= (p.Val184=)
c.3911T=
c.4953T= (p.Val1651=)
c.4407T= (p.Val1469=)
c.4307-4241T= (n.4307-4241T=)
n.271T=
n.253-4241T=
n.40-4241T=
c.640T=
c.4680T= (p.Val1560=)
c.4034-4241T= (n.4034-4241T=)
c.3315T= (p.Val1105=)
c.5229T= (p.Val1743=)
c.3488-4241T= (n.3488-4241T=)
c.4956T= (p.Val1652=)
c.4410T= (p.Val1470=)
c.4580-4241T= (n.4580-4241T=)
c.4137T= (p.Val1379=)
c.3761-4241T= (n.3761-4241T=)
c.3588T= (p.Val1196=)
c.5502T= (p.Val1834=)
c.5226T= (p.Val1742=)
9g.115046582A>CCA466912497TNCc.318-4241T>G
c.3215-4241T>G (n.3215-4241T>G)
c.3864T>G (p.Val1288=)
c.1896T>G (p.Val632=)
c.552T>G (p.Val184=)
c.3911T>G
c.4953T>G (p.Val1651=)
c.4407T>G (p.Val1469=)
c.4307-4241T>G (n.4307-4241T>G)
n.271T>G
n.253-4241T>G
n.40-4241T>G
c.640T>G
c.4680T>G (p.Val1560=)
c.4034-4241T>G (n.4034-4241T>G)
c.3315T>G (p.Val1105=)
c.5229T>G (p.Val1743=)
c.3488-4241T>G (n.3488-4241T>G)
c.4956T>G (p.Val1652=)
c.4410T>G (p.Val1470=)
c.4580-4241T>G (n.4580-4241T>G)
c.4137T>G (p.Val1379=)
c.3761-4241T>G (n.3761-4241T>G)
c.3588T>G (p.Val1196=)
c.5502T>G (p.Val1834=)
c.5226T>G (p.Val1742=)
 dbSNP gnomAD v3 gnomAD v4
9g.115046582A>GCA466912498TNCc.318-4241T>C
c.3215-4241T>C (n.3215-4241T>C)
c.3864T>C (p.Val1288=)
c.1896T>C (p.Val632=)
c.552T>C (p.Val184=)
c.3911T>C
c.4953T>C (p.Val1651=)
c.4407T>C (p.Val1469=)
c.4307-4241T>C (n.4307-4241T>C)
n.271T>C
n.253-4241T>C
n.40-4241T>C
c.640T>C
c.4680T>C (p.Val1560=)
c.4034-4241T>C (n.4034-4241T>C)
c.3315T>C (p.Val1105=)
c.5229T>C (p.Val1743=)
c.3488-4241T>C (n.3488-4241T>C)
c.4956T>C (p.Val1652=)
c.4410T>C (p.Val1470=)
c.4580-4241T>C (n.4580-4241T>C)
c.4137T>C (p.Val1379=)
c.3761-4241T>C (n.3761-4241T>C)
c.3588T>C (p.Val1196=)
c.5502T>C (p.Val1834=)
c.5226T>C (p.Val1742=)
 gnomAD v4
9g.115046582A>TCA466912499TNCc.318-4241T>A
c.3215-4241T>A (n.3215-4241T>A)
c.3864T>A (p.Val1288=)
c.1896T>A (p.Val632=)
c.552T>A (p.Val184=)
c.3911T>A
c.4953T>A (p.Val1651=)
c.4407T>A (p.Val1469=)
c.4307-4241T>A (n.4307-4241T>A)
n.271T>A
n.253-4241T>A
n.40-4241T>A
c.640T>A
c.4680T>A (p.Val1560=)
c.4034-4241T>A (n.4034-4241T>A)
c.3315T>A (p.Val1105=)
c.5229T>A (p.Val1743=)
c.3488-4241T>A (n.3488-4241T>A)
c.4956T>A (p.Val1652=)
c.4410T>A (p.Val1470=)
c.4580-4241T>A (n.4580-4241T>A)
c.4137T>A (p.Val1379=)
c.3761-4241T>A (n.3761-4241T>A)
c.3588T>A (p.Val1196=)
c.5502T>A (p.Val1834=)
c.5226T>A (p.Val1742=)
9g.115046583A=CA1874118923TNCc.318-4242T=
c.3215-4242T= (n.3215-4242T=)
c.3863T= (p.Val1288=)
c.1895T= (p.Val632=)
c.551T= (p.Val184=)
c.3910T=
c.4952T= (p.Val1651=)
c.4406T= (p.Val1469=)
c.4307-4242T= (n.4307-4242T=)
n.270T=
n.253-4242T=
n.40-4242T=
c.639T=
c.4679T= (p.Val1560=)
c.4034-4242T= (n.4034-4242T=)
c.3314T= (p.Val1105=)
c.5228T= (p.Val1743=)
c.3488-4242T= (n.3488-4242T=)
c.4955T= (p.Val1652=)
c.4409T= (p.Val1470=)
c.4580-4242T= (n.4580-4242T=)
c.4136T= (p.Val1379=)
c.3761-4242T= (n.3761-4242T=)
c.3587T= (p.Val1196=)
c.5501T= (p.Val1834=)
c.5225T= (p.Val1742=)
9g.115046583A>CCA374631148TNCc.318-4242T>G
c.3215-4242T>G (n.3215-4242T>G)
c.3863T>G (p.Val1288Gly)
c.1895T>G (p.Val632Gly)
c.551T>G (p.Val184Gly)
c.3910T>G
c.4952T>G (p.Val1651Gly)
c.4406T>G (p.Val1469Gly)
c.4307-4242T>G (n.4307-4242T>G)
n.270T>G
n.253-4242T>G
n.40-4242T>G
c.639T>G
c.4679T>G (p.Val1560Gly)
c.4034-4242T>G (n.4034-4242T>G)
c.3314T>G (p.Val1105Gly)
c.5228T>G (p.Val1743Gly)
c.3488-4242T>G (n.3488-4242T>G)
c.4955T>G (p.Val1652Gly)
c.4409T>G (p.Val1470Gly)
c.4580-4242T>G (n.4580-4242T>G)
c.4136T>G (p.Val1379Gly)
c.3761-4242T>G (n.3761-4242T>G)
c.3587T>G (p.Val1196Gly)
c.5501T>G (p.Val1834Gly)
c.5225T>G (p.Val1742Gly)
9g.115046583A>GCA374631150TNCc.318-4242T>C
c.3215-4242T>C (n.3215-4242T>C)
c.3863T>C (p.Val1288Ala)
c.1895T>C (p.Val632Ala)
c.551T>C (p.Val184Ala)
c.3910T>C
c.4952T>C (p.Val1651Ala)
c.4406T>C (p.Val1469Ala)
c.4307-4242T>C (n.4307-4242T>C)
n.270T>C
n.253-4242T>C
n.40-4242T>C
c.639T>C
c.4679T>C (p.Val1560Ala)
c.4034-4242T>C (n.4034-4242T>C)
c.3314T>C (p.Val1105Ala)
c.5228T>C (p.Val1743Ala)
c.3488-4242T>C (n.3488-4242T>C)
c.4955T>C (p.Val1652Ala)
c.4409T>C (p.Val1470Ala)
c.4580-4242T>C (n.4580-4242T>C)
c.4136T>C (p.Val1379Ala)
c.3761-4242T>C (n.3761-4242T>C)
c.3587T>C (p.Val1196Ala)
c.5501T>C (p.Val1834Ala)
c.5225T>C (p.Val1742Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046583A>TCA374631151TNCc.318-4242T>A
c.3215-4242T>A (n.3215-4242T>A)
c.3863T>A (p.Val1288Asp)
c.1895T>A (p.Val632Asp)
c.551T>A (p.Val184Asp)
c.3910T>A
c.4952T>A (p.Val1651Asp)
c.4406T>A (p.Val1469Asp)
c.4307-4242T>A (n.4307-4242T>A)
n.270T>A
n.253-4242T>A
n.40-4242T>A
c.639T>A
c.4679T>A (p.Val1560Asp)
c.4034-4242T>A (n.4034-4242T>A)
c.3314T>A (p.Val1105Asp)
c.5228T>A (p.Val1743Asp)
c.3488-4242T>A (n.3488-4242T>A)
c.4955T>A (p.Val1652Asp)
c.4409T>A (p.Val1470Asp)
c.4580-4242T>A (n.4580-4242T>A)
c.4136T>A (p.Val1379Asp)
c.3761-4242T>A (n.3761-4242T>A)
c.3587T>A (p.Val1196Asp)
c.5501T>A (p.Val1834Asp)
c.5225T>A (p.Val1742Asp)
9g.115046584C>ACA5207781TNCc.318-4243G>T
c.3215-4243G>T (n.3215-4243G>T)
c.3862G>T (p.Val1288Phe)
c.1894G>T (p.Val632Phe)
c.550G>T (p.Val184Phe)
c.3909G>T
c.4951G>T (p.Val1651Phe)
c.4405G>T (p.Val1469Phe)
c.4307-4243G>T (n.4307-4243G>T)
n.269G>T
n.253-4243G>T
n.40-4243G>T
c.638G>T
c.4678G>T (p.Val1560Phe)
c.4034-4243G>T (n.4034-4243G>T)
c.3313G>T (p.Val1105Phe)
c.5227G>T (p.Val1743Phe)
c.3488-4243G>T (n.3488-4243G>T)
c.4954G>T (p.Val1652Phe)
c.4408G>T (p.Val1470Phe)
c.4580-4243G>T (n.4580-4243G>T)
c.4135G>T (p.Val1379Phe)
c.3761-4243G>T (n.3761-4243G>T)
c.3586G>T (p.Val1196Phe)
c.5500G>T (p.Val1834Phe)
c.5224G>T (p.Val1742Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046584C=CA1874118924TNCc.318-4243G=
c.3215-4243G= (n.3215-4243G=)
c.3862G= (p.Val1288=)
c.1894G= (p.Val632=)
c.550G= (p.Val184=)
c.3909G=
c.4951G= (p.Val1651=)
c.4405G= (p.Val1469=)
c.4307-4243G= (n.4307-4243G=)
n.269G=
n.253-4243G=
n.40-4243G=
c.638G=
c.4678G= (p.Val1560=)
c.4034-4243G= (n.4034-4243G=)
c.3313G= (p.Val1105=)
c.5227G= (p.Val1743=)
c.3488-4243G= (n.3488-4243G=)
c.4954G= (p.Val1652=)
c.4408G= (p.Val1470=)
c.4580-4243G= (n.4580-4243G=)
c.4135G= (p.Val1379=)
c.3761-4243G= (n.3761-4243G=)
c.3586G= (p.Val1196=)
c.5500G= (p.Val1834=)
c.5224G= (p.Val1742=)
9g.115046584C>GCA374631154TNCc.318-4243G>C
c.3215-4243G>C (n.3215-4243G>C)
c.3862G>C (p.Val1288Leu)
c.1894G>C (p.Val632Leu)
c.550G>C (p.Val184Leu)
c.3909G>C
c.4951G>C (p.Val1651Leu)
c.4405G>C (p.Val1469Leu)
c.4307-4243G>C (n.4307-4243G>C)
n.269G>C
n.253-4243G>C
n.40-4243G>C
c.638G>C
c.4678G>C (p.Val1560Leu)
c.4034-4243G>C (n.4034-4243G>C)
c.3313G>C (p.Val1105Leu)
c.5227G>C (p.Val1743Leu)
c.3488-4243G>C (n.3488-4243G>C)
c.4954G>C (p.Val1652Leu)
c.4408G>C (p.Val1470Leu)
c.4580-4243G>C (n.4580-4243G>C)
c.4135G>C (p.Val1379Leu)
c.3761-4243G>C (n.3761-4243G>C)
c.3586G>C (p.Val1196Leu)
c.5500G>C (p.Val1834Leu)
c.5224G>C (p.Val1742Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046584C>TCA374631156TNCc.318-4243G>A
c.3215-4243G>A (n.3215-4243G>A)
c.3862G>A (p.Val1288Ile)
c.1894G>A (p.Val632Ile)
c.550G>A (p.Val184Ile)
c.3909G>A
c.4951G>A (p.Val1651Ile)
c.4405G>A (p.Val1469Ile)
c.4307-4243G>A (n.4307-4243G>A)
n.269G>A
n.253-4243G>A
n.40-4243G>A
c.638G>A
c.4678G>A (p.Val1560Ile)
c.4034-4243G>A (n.4034-4243G>A)
c.3313G>A (p.Val1105Ile)
c.5227G>A (p.Val1743Ile)
c.3488-4243G>A (n.3488-4243G>A)
c.4954G>A (p.Val1652Ile)
c.4408G>A (p.Val1470Ile)
c.4580-4243G>A (n.4580-4243G>A)
c.4135G>A (p.Val1379Ile)
c.3761-4243G>A (n.3761-4243G>A)
c.3586G>A (p.Val1196Ile)
c.5500G>A (p.Val1834Ile)
c.5224G>A (p.Val1742Ile)
 ClinVar dbSNP
9g.115046585A=CA1874118925TNCc.318-4244T=
c.3215-4244T= (n.3215-4244T=)
c.3861T= (p.Phe1287=)
c.1893T= (p.Phe631=)
c.549T= (p.Phe183=)
c.3908T=
c.4950T= (p.Phe1650=)
c.4404T= (p.Phe1468=)
c.4307-4244T= (n.4307-4244T=)
n.268T=
n.253-4244T=
n.40-4244T=
c.637T=
c.4677T= (p.Phe1559=)
c.4034-4244T= (n.4034-4244T=)
c.3312T= (p.Phe1104=)
c.5226T= (p.Phe1742=)
c.3488-4244T= (n.3488-4244T=)
c.4953T= (p.Phe1651=)
c.4407T= (p.Phe1469=)
c.4580-4244T= (n.4580-4244T=)
c.4134T= (p.Phe1378=)
c.3761-4244T= (n.3761-4244T=)
c.3585T= (p.Phe1195=)
c.5499T= (p.Phe1833=)
c.5223T= (p.Phe1741=)
9g.115046585A>CCA374631157TNCc.318-4244T>G
c.3215-4244T>G (n.3215-4244T>G)
c.3861T>G (p.Phe1287Leu)
c.1893T>G (p.Phe631Leu)
c.549T>G (p.Phe183Leu)
c.3908T>G
c.4950T>G (p.Phe1650Leu)
c.4404T>G (p.Phe1468Leu)
c.4307-4244T>G (n.4307-4244T>G)
n.268T>G
n.253-4244T>G
n.40-4244T>G
c.637T>G
c.4677T>G (p.Phe1559Leu)
c.4034-4244T>G (n.4034-4244T>G)
c.3312T>G (p.Phe1104Leu)
c.5226T>G (p.Phe1742Leu)
c.3488-4244T>G (n.3488-4244T>G)
c.4953T>G (p.Phe1651Leu)
c.4407T>G (p.Phe1469Leu)
c.4580-4244T>G (n.4580-4244T>G)
c.4134T>G (p.Phe1378Leu)
c.3761-4244T>G (n.3761-4244T>G)
c.3585T>G (p.Phe1195Leu)
c.5499T>G (p.Phe1833Leu)
c.5223T>G (p.Phe1741Leu)
9g.115046585A>GCA466912500TNCc.318-4244T>C
c.3215-4244T>C (n.3215-4244T>C)
c.3861T>C (p.Phe1287=)
c.1893T>C (p.Phe631=)
c.549T>C (p.Phe183=)
c.3908T>C
c.4950T>C (p.Phe1650=)
c.4404T>C (p.Phe1468=)
c.4307-4244T>C (n.4307-4244T>C)
n.268T>C
n.253-4244T>C
n.40-4244T>C
c.637T>C
c.4677T>C (p.Phe1559=)
c.4034-4244T>C (n.4034-4244T>C)
c.3312T>C (p.Phe1104=)
c.5226T>C (p.Phe1742=)
c.3488-4244T>C (n.3488-4244T>C)
c.4953T>C (p.Phe1651=)
c.4407T>C (p.Phe1469=)
c.4580-4244T>C (n.4580-4244T>C)
c.4134T>C (p.Phe1378=)
c.3761-4244T>C (n.3761-4244T>C)
c.3585T>C (p.Phe1195=)
c.5499T>C (p.Phe1833=)
c.5223T>C (p.Phe1741=)
9g.115046585A>TCA5207782TNCc.318-4244T>A
c.3215-4244T>A (n.3215-4244T>A)
c.3861T>A (p.Phe1287Leu)
c.1893T>A (p.Phe631Leu)
c.549T>A (p.Phe183Leu)
c.3908T>A
c.4950T>A (p.Phe1650Leu)
c.4404T>A (p.Phe1468Leu)
c.4307-4244T>A (n.4307-4244T>A)
n.268T>A
n.253-4244T>A
n.40-4244T>A
c.637T>A
c.4677T>A (p.Phe1559Leu)
c.4034-4244T>A (n.4034-4244T>A)
c.3312T>A (p.Phe1104Leu)
c.5226T>A (p.Phe1742Leu)
c.3488-4244T>A (n.3488-4244T>A)
c.4953T>A (p.Phe1651Leu)
c.4407T>A (p.Phe1469Leu)
c.4580-4244T>A (n.4580-4244T>A)
c.4134T>A (p.Phe1378Leu)
c.3761-4244T>A (n.3761-4244T>A)
c.3585T>A (p.Phe1195Leu)
c.5499T>A (p.Phe1833Leu)
c.5223T>A (p.Phe1741Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.115046586A>CCA374631160TNCc.318-4245T>G
c.3215-4245T>G (n.3215-4245T>G)
c.3860T>G (p.Phe1287Cys)
c.1892T>G (p.Phe631Cys)
c.548T>G (p.Phe183Cys)
c.3907T>G
c.4949T>G (p.Phe1650Cys)
c.4403T>G (p.Phe1468Cys)
c.4307-4245T>G (n.4307-4245T>G)
n.267T>G
n.253-4245T>G
n.40-4245T>G
c.636T>G
c.4676T>G (p.Phe1559Cys)
c.4034-4245T>G (n.4034-4245T>G)
c.3311T>G (p.Phe1104Cys)
c.5225T>G (p.Phe1742Cys)
c.3488-4245T>G (n.3488-4245T>G)
c.4952T>G (p.Phe1651Cys)
c.4406T>G (p.Phe1469Cys)
c.4580-4245T>G (n.4580-4245T>G)
c.4133T>G (p.Phe1378Cys)
c.3761-4245T>G (n.3761-4245T>G)
c.3584T>G (p.Phe1195Cys)
c.5498T>G (p.Phe1833Cys)
c.5222T>G (p.Phe1741Cys)
9g.115046586A>GCA374631163TNCc.318-4245T>C
c.3215-4245T>C (n.3215-4245T>C)
c.3860T>C (p.Phe1287Ser)
c.1892T>C (p.Phe631Ser)
c.548T>C (p.Phe183Ser)
c.3907T>C
c.4949T>C (p.Phe1650Ser)
c.4403T>C (p.Phe1468Ser)
c.4307-4245T>C (n.4307-4245T>C)
n.267T>C
n.253-4245T>C
n.40-4245T>C
c.636T>C
c.4676T>C (p.Phe1559Ser)
c.4034-4245T>C (n.4034-4245T>C)
c.3311T>C (p.Phe1104Ser)
c.5225T>C (p.Phe1742Ser)
c.3488-4245T>C (n.3488-4245T>C)
c.4952T>C (p.Phe1651Ser)
c.4406T>C (p.Phe1469Ser)
c.4580-4245T>C (n.4580-4245T>C)
c.4133T>C (p.Phe1378Ser)
c.3761-4245T>C (n.3761-4245T>C)
c.3584T>C (p.Phe1195Ser)
c.5498T>C (p.Phe1833Ser)
c.5222T>C (p.Phe1741Ser)
9g.115046586A>TCA374631162TNCc.318-4245T>A
c.3215-4245T>A (n.3215-4245T>A)
c.3860T>A (p.Phe1287Tyr)
c.1892T>A (p.Phe631Tyr)
c.548T>A (p.Phe183Tyr)
c.3907T>A
c.4949T>A (p.Phe1650Tyr)
c.4403T>A (p.Phe1468Tyr)
c.4307-4245T>A (n.4307-4245T>A)
n.267T>A
n.253-4245T>A
n.40-4245T>A
c.636T>A
c.4676T>A (p.Phe1559Tyr)
c.4034-4245T>A (n.4034-4245T>A)
c.3311T>A (p.Phe1104Tyr)
c.5225T>A (p.Phe1742Tyr)
c.3488-4245T>A (n.3488-4245T>A)
c.4952T>A (p.Phe1651Tyr)
c.4406T>A (p.Phe1469Tyr)
c.4580-4245T>A (n.4580-4245T>A)
c.4133T>A (p.Phe1378Tyr)
c.3761-4245T>A (n.3761-4245T>A)
c.3584T>A (p.Phe1195Tyr)
c.5498T>A (p.Phe1833Tyr)
c.5222T>A (p.Phe1741Tyr)
9g.115046587A>CCA374631165TNCc.318-4246T>G
c.3215-4246T>G (n.3215-4246T>G)
c.3859T>G (p.Phe1287Val)
c.1891T>G (p.Phe631Val)
c.547T>G (p.Phe183Val)
c.3906T>G
c.4948T>G (p.Phe1650Val)
c.4402T>G (p.Phe1468Val)
c.4307-4246T>G (n.4307-4246T>G)
n.266T>G
n.253-4246T>G
n.40-4246T>G
c.635T>G
c.4675T>G (p.Phe1559Val)
c.4034-4246T>G (n.4034-4246T>G)
c.3310T>G (p.Phe1104Val)
c.5224T>G (p.Phe1742Val)
c.3488-4246T>G (n.3488-4246T>G)
c.4951T>G (p.Phe1651Val)
c.4405T>G (p.Phe1469Val)
c.4580-4246T>G (n.4580-4246T>G)
c.4132T>G (p.Phe1378Val)
c.3761-4246T>G (n.3761-4246T>G)
c.3583T>G (p.Phe1195Val)
c.5497T>G (p.Phe1833Val)
c.5221T>G (p.Phe1741Val)
9g.115046587A>GCA374631167TNCc.318-4246T>C
c.3215-4246T>C (n.3215-4246T>C)
c.3859T>C (p.Phe1287Leu)
c.1891T>C (p.Phe631Leu)
c.547T>C (p.Phe183Leu)
c.3906T>C
c.4948T>C (p.Phe1650Leu)
c.4402T>C (p.Phe1468Leu)
c.4307-4246T>C (n.4307-4246T>C)
n.266T>C
n.253-4246T>C
n.40-4246T>C
c.635T>C
c.4675T>C (p.Phe1559Leu)
c.4034-4246T>C (n.4034-4246T>C)
c.3310T>C (p.Phe1104Leu)
c.5224T>C (p.Phe1742Leu)
c.3488-4246T>C (n.3488-4246T>C)
c.4951T>C (p.Phe1651Leu)
c.4405T>C (p.Phe1469Leu)
c.4580-4246T>C (n.4580-4246T>C)
c.4132T>C (p.Phe1378Leu)
c.3761-4246T>C (n.3761-4246T>C)
c.3583T>C (p.Phe1195Leu)
c.5497T>C (p.Phe1833Leu)
c.5221T>C (p.Phe1741Leu)
9g.115046587A>TCA374631168TNCc.318-4246T>A
c.3215-4246T>A (n.3215-4246T>A)
c.3859T>A (p.Phe1287Ile)
c.1891T>A (p.Phe631Ile)
c.547T>A (p.Phe183Ile)
c.3906T>A
c.4948T>A (p.Phe1650Ile)
c.4402T>A (p.Phe1468Ile)
c.4307-4246T>A (n.4307-4246T>A)
n.266T>A
n.253-4246T>A
n.40-4246T>A
c.635T>A
c.4675T>A (p.Phe1559Ile)
c.4034-4246T>A (n.4034-4246T>A)
c.3310T>A (p.Phe1104Ile)
c.5224T>A (p.Phe1742Ile)
c.3488-4246T>A (n.3488-4246T>A)
c.4951T>A (p.Phe1651Ile)
c.4405T>A (p.Phe1469Ile)
c.4580-4246T>A (n.4580-4246T>A)
c.4132T>A (p.Phe1378Ile)
c.3761-4246T>A (n.3761-4246T>A)
c.3583T>A (p.Phe1195Ile)
c.5497T>A (p.Phe1833Ile)
c.5221T>A (p.Phe1741Ile)
9g.115046588A>CCA374631170TNCc.318-4247T>G
c.3215-4247T>G (n.3215-4247T>G)
c.3858T>G (p.Asn1286Lys)
c.1890T>G (p.Asn630Lys)
c.546T>G (p.Asn182Lys)
c.3905T>G
c.4947T>G (p.Asn1649Lys)
c.4401T>G (p.Asn1467Lys)
c.4307-4247T>G (n.4307-4247T>G)
n.265T>G
n.253-4247T>G
n.40-4247T>G
c.634T>G
c.4674T>G (p.Asn1558Lys)
c.4034-4247T>G (n.4034-4247T>G)
c.3309T>G (p.Asn1103Lys)
c.5223T>G (p.Asn1741Lys)
c.3488-4247T>G (n.3488-4247T>G)
c.4950T>G (p.Asn1650Lys)
c.4404T>G (p.Asn1468Lys)
c.4580-4247T>G (n.4580-4247T>G)
c.4131T>G (p.Asn1377Lys)
c.3761-4247T>G (n.3761-4247T>G)
c.3582T>G (p.Asn1194Lys)
c.5496T>G (p.Asn1832Lys)
c.5220T>G (p.Asn1740Lys)
9g.115046588A>GCA466912501TNCc.318-4247T>C
c.3215-4247T>C (n.3215-4247T>C)
c.3858T>C (p.Asn1286=)
c.1890T>C (p.Asn630=)
c.546T>C (p.Asn182=)
c.3905T>C
c.4947T>C (p.Asn1649=)
c.4401T>C (p.Asn1467=)
c.4307-4247T>C (n.4307-4247T>C)
n.265T>C
n.253-4247T>C
n.40-4247T>C
c.634T>C
c.4674T>C (p.Asn1558=)
c.4034-4247T>C (n.4034-4247T>C)
c.3309T>C (p.Asn1103=)
c.5223T>C (p.Asn1741=)
c.3488-4247T>C (n.3488-4247T>C)
c.4950T>C (p.Asn1650=)
c.4404T>C (p.Asn1468=)
c.4580-4247T>C (n.4580-4247T>C)
c.4131T>C (p.Asn1377=)
c.3761-4247T>C (n.3761-4247T>C)
c.3582T>C (p.Asn1194=)
c.5496T>C (p.Asn1832=)
c.5220T>C (p.Asn1740=)
9g.115046588A>TCA374631172TNCc.318-4247T>A
c.3215-4247T>A (n.3215-4247T>A)
c.3858T>A (p.Asn1286Lys)
c.1890T>A (p.Asn630Lys)
c.546T>A (p.Asn182Lys)
c.3905T>A
c.4947T>A (p.Asn1649Lys)
c.4401T>A (p.Asn1467Lys)
c.4307-4247T>A (n.4307-4247T>A)
n.265T>A
n.253-4247T>A
n.40-4247T>A
c.634T>A
c.4674T>A (p.Asn1558Lys)
c.4034-4247T>A (n.4034-4247T>A)
c.3309T>A (p.Asn1103Lys)
c.5223T>A (p.Asn1741Lys)
c.3488-4247T>A (n.3488-4247T>A)
c.4950T>A (p.Asn1650Lys)
c.4404T>A (p.Asn1468Lys)
c.4580-4247T>A (n.4580-4247T>A)
c.4131T>A (p.Asn1377Lys)
c.3761-4247T>A (n.3761-4247T>A)
c.3582T>A (p.Asn1194Lys)
c.5496T>A (p.Asn1832Lys)
c.5220T>A (p.Asn1740Lys)
9g.115046589T>ACA374631174TNCc.318-4248A>T
c.3215-4248A>T (n.3215-4248A>T)
c.3857A>T (p.Asn1286Ile)
c.1889A>T (p.Asn630Ile)
c.545A>T (p.Asn182Ile)
c.3904A>T
c.4946A>T (p.Asn1649Ile)
c.4400A>T (p.Asn1467Ile)
c.4307-4248A>T (n.4307-4248A>T)
n.264A>T
n.253-4248A>T
n.40-4248A>T
c.633A>T
c.4673A>T (p.Asn1558Ile)
c.4034-4248A>T (n.4034-4248A>T)
c.3308A>T (p.Asn1103Ile)
c.5222A>T (p.Asn1741Ile)
c.3488-4248A>T (n.3488-4248A>T)
c.4949A>T (p.Asn1650Ile)
c.4403A>T (p.Asn1468Ile)
c.4580-4248A>T (n.4580-4248A>T)
c.4130A>T (p.Asn1377Ile)
c.3761-4248A>T (n.3761-4248A>T)
c.3581A>T (p.Asn1194Ile)
c.5495A>T (p.Asn1832Ile)
c.5219A>T (p.Asn1740Ile)
9g.115046589T>CCA374631175TNCc.318-4248A>G
c.3215-4248A>G (n.3215-4248A>G)
c.3857A>G (p.Asn1286Ser)
c.1889A>G (p.Asn630Ser)
c.545A>G (p.Asn182Ser)
c.3904A>G
c.4946A>G (p.Asn1649Ser)
c.4400A>G (p.Asn1467Ser)
c.4307-4248A>G (n.4307-4248A>G)
n.264A>G
n.253-4248A>G
n.40-4248A>G
c.633A>G
c.4673A>G (p.Asn1558Ser)
c.4034-4248A>G (n.4034-4248A>G)
c.3308A>G (p.Asn1103Ser)
c.5222A>G (p.Asn1741Ser)
c.3488-4248A>G (n.3488-4248A>G)
c.4949A>G (p.Asn1650Ser)
c.4403A>G (p.Asn1468Ser)
c.4580-4248A>G (n.4580-4248A>G)
c.4130A>G (p.Asn1377Ser)
c.3761-4248A>G (n.3761-4248A>G)
c.3581A>G (p.Asn1194Ser)
c.5495A>G (p.Asn1832Ser)
c.5219A>G (p.Asn1740Ser)
9g.115046589T>GCA374631177TNCc.318-4248A>C
c.3215-4248A>C (n.3215-4248A>C)
c.3857A>C (p.Asn1286Thr)
c.1889A>C (p.Asn630Thr)
c.545A>C (p.Asn182Thr)
c.3904A>C
c.4946A>C (p.Asn1649Thr)
c.4400A>C (p.Asn1467Thr)
c.4307-4248A>C (n.4307-4248A>C)
n.264A>C
n.253-4248A>C
n.40-4248A>C
c.633A>C
c.4673A>C (p.Asn1558Thr)
c.4034-4248A>C (n.4034-4248A>C)
c.3308A>C (p.Asn1103Thr)
c.5222A>C (p.Asn1741Thr)
c.3488-4248A>C (n.3488-4248A>C)
c.4949A>C (p.Asn1650Thr)
c.4403A>C (p.Asn1468Thr)
c.4580-4248A>C (n.4580-4248A>C)
c.4130A>C (p.Asn1377Thr)
c.3761-4248A>C (n.3761-4248A>C)
c.3581A>C (p.Asn1194Thr)
c.5495A>C (p.Asn1832Thr)
c.5219A>C (p.Asn1740Thr)
9g.115046590T>ACA374631179TNCc.318-4249A>T
c.3215-4249A>T (n.3215-4249A>T)
c.3856A>T (p.Asn1286Tyr)
c.1888A>T (p.Asn630Tyr)
c.544A>T (p.Asn182Tyr)
c.3903A>T
c.4945A>T (p.Asn1649Tyr)
c.4399A>T (p.Asn1467Tyr)
c.4307-4249A>T (n.4307-4249A>T)
n.263A>T
n.253-4249A>T
n.40-4249A>T
c.632A>T
c.4672A>T (p.Asn1558Tyr)
c.4034-4249A>T (n.4034-4249A>T)
c.3307A>T (p.Asn1103Tyr)
c.5221A>T (p.Asn1741Tyr)
c.3488-4249A>T (n.3488-4249A>T)
c.4948A>T (p.Asn1650Tyr)
c.4402A>T (p.Asn1468Tyr)
c.4580-4249A>T (n.4580-4249A>T)
c.4129A>T (p.Asn1377Tyr)
c.3761-4249A>T (n.3761-4249A>T)
c.3580A>T (p.Asn1194Tyr)
c.5494A>T (p.Asn1832Tyr)
c.5218A>T (p.Asn1740Tyr)
 gnomAD v4
9g.115046590T>CCA374631181TNCc.318-4249A>G
c.3215-4249A>G (n.3215-4249A>G)
c.3856A>G (p.Asn1286Asp)
c.1888A>G (p.Asn630Asp)
c.544A>G (p.Asn182Asp)
c.3903A>G
c.4945A>G (p.Asn1649Asp)
c.4399A>G (p.Asn1467Asp)
c.4307-4249A>G (n.4307-4249A>G)
n.263A>G
n.253-4249A>G
n.40-4249A>G
c.632A>G
c.4672A>G (p.Asn1558Asp)
c.4034-4249A>G (n.4034-4249A>G)
c.3307A>G (p.Asn1103Asp)
c.5221A>G (p.Asn1741Asp)
c.3488-4249A>G (n.3488-4249A>G)
c.4948A>G (p.Asn1650Asp)
c.4402A>G (p.Asn1468Asp)
c.4580-4249A>G (n.4580-4249A>G)
c.4129A>G (p.Asn1377Asp)
c.3761-4249A>G (n.3761-4249A>G)
c.3580A>G (p.Asn1194Asp)
c.5494A>G (p.Asn1832Asp)
c.5218A>G (p.Asn1740Asp)
 gnomAD v4
9g.115046590T>GCA374631182TNCc.318-4249A>C
c.3215-4249A>C (n.3215-4249A>C)
c.3856A>C (p.Asn1286His)
c.1888A>C (p.Asn630His)
c.544A>C (p.Asn182His)
c.3903A>C
c.4945A>C (p.Asn1649His)
c.4399A>C (p.Asn1467His)
c.4307-4249A>C (n.4307-4249A>C)
n.263A>C
n.253-4249A>C
n.40-4249A>C
c.632A>C
c.4672A>C (p.Asn1558His)
c.4034-4249A>C (n.4034-4249A>C)
c.3307A>C (p.Asn1103His)
c.5221A>C (p.Asn1741His)
c.3488-4249A>C (n.3488-4249A>C)
c.4948A>C (p.Asn1650His)
c.4402A>C (p.Asn1468His)
c.4580-4249A>C (n.4580-4249A>C)
c.4129A>C (p.Asn1377His)
c.3761-4249A>C (n.3761-4249A>C)
c.3580A>C (p.Asn1194His)
c.5494A>C (p.Asn1832His)
c.5218A>C (p.Asn1740His)
9g.115046591G>ACA5207783TNCc.318-4250C>T
c.3215-4250C>T (n.3215-4250C>T)
c.3855C>T (p.Asp1285=)
c.1887C>T (p.Asp629=)
c.543C>T (p.Asp181=)
c.3902C>T
c.4944C>T (p.Asp1648=)
c.4398C>T (p.Asp1466=)
c.4307-4250C>T (n.4307-4250C>T)
n.262C>T
n.253-4250C>T
n.40-4250C>T
c.631C>T
c.4671C>T (p.Asp1557=)
c.4034-4250C>T (n.4034-4250C>T)
c.3306C>T (p.Asp1102=)
c.5220C>T (p.Asp1740=)
c.3488-4250C>T (n.3488-4250C>T)
c.4947C>T (p.Asp1649=)
c.4401C>T (p.Asp1467=)
c.4580-4250C>T (n.4580-4250C>T)
c.4128C>T (p.Asp1376=)
c.3761-4250C>T (n.3761-4250C>T)
c.3579C>T (p.Asp1193=)
c.5493C>T (p.Asp1831=)
c.5217C>T (p.Asp1739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046591G>CCA374631186TNCc.318-4250C>G
c.3215-4250C>G (n.3215-4250C>G)
c.3855C>G (p.Asp1285Glu)
c.1887C>G (p.Asp629Glu)
c.543C>G (p.Asp181Glu)
c.3902C>G
c.4944C>G (p.Asp1648Glu)
c.4398C>G (p.Asp1466Glu)
c.4307-4250C>G (n.4307-4250C>G)
n.262C>G
n.253-4250C>G
n.40-4250C>G
c.631C>G
c.4671C>G (p.Asp1557Glu)
c.4034-4250C>G (n.4034-4250C>G)
c.3306C>G (p.Asp1102Glu)
c.5220C>G (p.Asp1740Glu)
c.3488-4250C>G (n.3488-4250C>G)
c.4947C>G (p.Asp1649Glu)
c.4401C>G (p.Asp1467Glu)
c.4580-4250C>G (n.4580-4250C>G)
c.4128C>G (p.Asp1376Glu)
c.3761-4250C>G (n.3761-4250C>G)
c.3579C>G (p.Asp1193Glu)
c.5493C>G (p.Asp1831Glu)
c.5217C>G (p.Asp1739Glu)
9g.115046591G=CA1874118926TNCc.318-4250C=
c.3215-4250C= (n.3215-4250C=)
c.3855C= (p.Asp1285=)
c.1887C= (p.Asp629=)
c.543C= (p.Asp181=)
c.3902C=
c.4944C= (p.Asp1648=)
c.4398C= (p.Asp1466=)
c.4307-4250C= (n.4307-4250C=)
n.262C=
n.253-4250C=
n.40-4250C=
c.631C=
c.4671C= (p.Asp1557=)
c.4034-4250C= (n.4034-4250C=)
c.3306C= (p.Asp1102=)
c.5220C= (p.Asp1740=)
c.3488-4250C= (n.3488-4250C=)
c.4947C= (p.Asp1649=)
c.4401C= (p.Asp1467=)
c.4580-4250C= (n.4580-4250C=)
c.4128C= (p.Asp1376=)
c.3761-4250C= (n.3761-4250C=)
c.3579C= (p.Asp1193=)
c.5493C= (p.Asp1831=)
c.5217C= (p.Asp1739=)
9g.115046591G>TCA374631184TNCc.318-4250C>A
c.3215-4250C>A (n.3215-4250C>A)
c.3855C>A (p.Asp1285Glu)
c.1887C>A (p.Asp629Glu)
c.543C>A (p.Asp181Glu)
c.3902C>A
c.4944C>A (p.Asp1648Glu)
c.4398C>A (p.Asp1466Glu)
c.4307-4250C>A (n.4307-4250C>A)
n.262C>A
n.253-4250C>A
n.40-4250C>A
c.631C>A
c.4671C>A (p.Asp1557Glu)
c.4034-4250C>A (n.4034-4250C>A)
c.3306C>A (p.Asp1102Glu)
c.5220C>A (p.Asp1740Glu)
c.3488-4250C>A (n.3488-4250C>A)
c.4947C>A (p.Asp1649Glu)
c.4401C>A (p.Asp1467Glu)
c.4580-4250C>A (n.4580-4250C>A)
c.4128C>A (p.Asp1376Glu)
c.3761-4250C>A (n.3761-4250C>A)
c.3579C>A (p.Asp1193Glu)
c.5493C>A (p.Asp1831Glu)
c.5217C>A (p.Asp1739Glu)
 gnomAD v4
9g.115046592T>ACA5207784TNCc.318-4251A>T
c.3215-4251A>T (n.3215-4251A>T)
c.3854A>T (p.Asp1285Val)
c.1886A>T (p.Asp629Val)
c.542A>T (p.Asp181Val)
c.3901A>T
c.4943A>T (p.Asp1648Val)
c.4397A>T (p.Asp1466Val)
c.4307-4251A>T (n.4307-4251A>T)
n.261A>T
n.253-4251A>T
n.40-4251A>T
c.630A>T
c.4670A>T (p.Asp1557Val)
c.4034-4251A>T (n.4034-4251A>T)
c.3305A>T (p.Asp1102Val)
c.5219A>T (p.Asp1740Val)
c.3488-4251A>T (n.3488-4251A>T)
c.4946A>T (p.Asp1649Val)
c.4400A>T (p.Asp1467Val)
c.4580-4251A>T (n.4580-4251A>T)
c.4127A>T (p.Asp1376Val)
c.3761-4251A>T (n.3761-4251A>T)
c.3578A>T (p.Asp1193Val)
c.5492A>T (p.Asp1831Val)
c.5216A>T (p.Asp1739Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046592T>CCA374631188TNCc.318-4251A>G
c.3215-4251A>G (n.3215-4251A>G)
c.3854A>G (p.Asp1285Gly)
c.1886A>G (p.Asp629Gly)
c.542A>G (p.Asp181Gly)
c.3901A>G
c.4943A>G (p.Asp1648Gly)
c.4397A>G (p.Asp1466Gly)
c.4307-4251A>G (n.4307-4251A>G)
n.261A>G
n.253-4251A>G
n.40-4251A>G
c.630A>G
c.4670A>G (p.Asp1557Gly)
c.4034-4251A>G (n.4034-4251A>G)
c.3305A>G (p.Asp1102Gly)
c.5219A>G (p.Asp1740Gly)
c.3488-4251A>G (n.3488-4251A>G)
c.4946A>G (p.Asp1649Gly)
c.4400A>G (p.Asp1467Gly)
c.4580-4251A>G (n.4580-4251A>G)
c.4127A>G (p.Asp1376Gly)
c.3761-4251A>G (n.3761-4251A>G)
c.3578A>G (p.Asp1193Gly)
c.5492A>G (p.Asp1831Gly)
c.5216A>G (p.Asp1739Gly)
 dbSNP gnomAD v4
9g.115046592T>GCA374631190TNCc.318-4251A>C
c.3215-4251A>C (n.3215-4251A>C)
c.3854A>C (p.Asp1285Ala)
c.1886A>C (p.Asp629Ala)
c.542A>C (p.Asp181Ala)
c.3901A>C
c.4943A>C (p.Asp1648Ala)
c.4397A>C (p.Asp1466Ala)
c.4307-4251A>C (n.4307-4251A>C)
n.261A>C
n.253-4251A>C
n.40-4251A>C
c.630A>C
c.4670A>C (p.Asp1557Ala)
c.4034-4251A>C (n.4034-4251A>C)
c.3305A>C (p.Asp1102Ala)
c.5219A>C (p.Asp1740Ala)
c.3488-4251A>C (n.3488-4251A>C)
c.4946A>C (p.Asp1649Ala)
c.4400A>C (p.Asp1467Ala)
c.4580-4251A>C (n.4580-4251A>C)
c.4127A>C (p.Asp1376Ala)
c.3761-4251A>C (n.3761-4251A>C)
c.3578A>C (p.Asp1193Ala)
c.5492A>C (p.Asp1831Ala)
c.5216A>C (p.Asp1739Ala)
9g.115046592T=CA1874118927TNCc.318-4251A=
c.3215-4251A= (n.3215-4251A=)
c.3854A= (p.Asp1285=)
c.1886A= (p.Asp629=)
c.542A= (p.Asp181=)
c.3901A=
c.4943A= (p.Asp1648=)
c.4397A= (p.Asp1466=)
c.4307-4251A= (n.4307-4251A=)
n.261A=
n.253-4251A=
n.40-4251A=
c.630A=
c.4670A= (p.Asp1557=)
c.4034-4251A= (n.4034-4251A=)
c.3305A= (p.Asp1102=)
c.5219A= (p.Asp1740=)
c.3488-4251A= (n.3488-4251A=)
c.4946A= (p.Asp1649=)
c.4400A= (p.Asp1467=)
c.4580-4251A= (n.4580-4251A=)
c.4127A= (p.Asp1376=)
c.3761-4251A= (n.3761-4251A=)
c.3578A= (p.Asp1193=)
c.5492A= (p.Asp1831=)
c.5216A= (p.Asp1739=)
9g.115046593C>ACA374631192TNCc.318-4252G>T
c.3215-4252G>T (n.3215-4252G>T)
c.3853G>T (p.Asp1285Tyr)
c.1885G>T (p.Asp629Tyr)
c.541G>T (p.Asp181Tyr)
c.3900G>T
c.4942G>T (p.Asp1648Tyr)
c.4396G>T (p.Asp1466Tyr)
c.4307-4252G>T (n.4307-4252G>T)
n.260G>T
n.253-4252G>T
n.40-4252G>T
c.629G>T
c.4669G>T (p.Asp1557Tyr)
c.4034-4252G>T (n.4034-4252G>T)
c.3304G>T (p.Asp1102Tyr)
c.5218G>T (p.Asp1740Tyr)
c.3488-4252G>T (n.3488-4252G>T)
c.4945G>T (p.Asp1649Tyr)
c.4399G>T (p.Asp1467Tyr)
c.4580-4252G>T (n.4580-4252G>T)
c.4126G>T (p.Asp1376Tyr)
c.3761-4252G>T (n.3761-4252G>T)
c.3577G>T (p.Asp1193Tyr)
c.5491G>T (p.Asp1831Tyr)
c.5215G>T (p.Asp1739Tyr)
9g.115046593C=CA1874118929TNCc.318-4252G=
c.3215-4252G= (n.3215-4252G=)
c.3853G= (p.Asp1285=)
c.1885G= (p.Asp629=)
c.541G= (p.Asp181=)
c.3900G=
c.4942G= (p.Asp1648=)
c.4396G= (p.Asp1466=)
c.4307-4252G= (n.4307-4252G=)
n.260G=
n.253-4252G=
n.40-4252G=
c.629G=
c.4669G= (p.Asp1557=)
c.4034-4252G= (n.4034-4252G=)
c.3304G= (p.Asp1102=)
c.5218G= (p.Asp1740=)
c.3488-4252G= (n.3488-4252G=)
c.4945G= (p.Asp1649=)
c.4399G= (p.Asp1467=)
c.4580-4252G= (n.4580-4252G=)
c.4126G= (p.Asp1376=)
c.3761-4252G= (n.3761-4252G=)
c.3577G= (p.Asp1193=)
c.5491G= (p.Asp1831=)
c.5215G= (p.Asp1739=)
9g.115046593C>GCA374631194TNCc.318-4252G>C
c.3215-4252G>C (n.3215-4252G>C)
c.3853G>C (p.Asp1285His)
c.1885G>C (p.Asp629His)
c.541G>C (p.Asp181His)
c.3900G>C
c.4942G>C (p.Asp1648His)
c.4396G>C (p.Asp1466His)
c.4307-4252G>C (n.4307-4252G>C)
n.260G>C
n.253-4252G>C
n.40-4252G>C
c.629G>C
c.4669G>C (p.Asp1557His)
c.4034-4252G>C (n.4034-4252G>C)
c.3304G>C (p.Asp1102His)
c.5218G>C (p.Asp1740His)
c.3488-4252G>C (n.3488-4252G>C)
c.4945G>C (p.Asp1649His)
c.4399G>C (p.Asp1467His)
c.4580-4252G>C (n.4580-4252G>C)
c.4126G>C (p.Asp1376His)
c.3761-4252G>C (n.3761-4252G>C)
c.3577G>C (p.Asp1193His)
c.5491G>C (p.Asp1831His)
c.5215G>C (p.Asp1739His)
9g.115046593C>TCA374631195TNCc.318-4252G>A
c.3215-4252G>A (n.3215-4252G>A)
c.3853G>A (p.Asp1285Asn)
c.1885G>A (p.Asp629Asn)
c.541G>A (p.Asp181Asn)
c.3900G>A
c.4942G>A (p.Asp1648Asn)
c.4396G>A (p.Asp1466Asn)
c.4307-4252G>A (n.4307-4252G>A)
n.260G>A
n.253-4252G>A
n.40-4252G>A
c.629G>A
c.4669G>A (p.Asp1557Asn)
c.4034-4252G>A (n.4034-4252G>A)
c.3304G>A (p.Asp1102Asn)
c.5218G>A (p.Asp1740Asn)
c.3488-4252G>A (n.3488-4252G>A)
c.4945G>A (p.Asp1649Asn)
c.4399G>A (p.Asp1467Asn)
c.4580-4252G>A (n.4580-4252G>A)
c.4126G>A (p.Asp1376Asn)
c.3761-4252G>A (n.3761-4252G>A)
c.3577G>A (p.Asp1193Asn)
c.5491G>A (p.Asp1831Asn)
c.5215G>A (p.Asp1739Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115046593_115046594delinsCGCA1874118928TNCc.318-4253_318-4252delinsCG
c.3215-4253_3215-4252delinsCG (n.3215-4253_3215-4252delinsCG)
c.3852_3853delinsCG (p.Phe1284=)
c.1884_1885delinsCG (p.Phe628=)
c.540_541delinsCG (p.Phe180=)
c.3899_3900delinsCG
c.4941_4942delinsCG (p.Phe1647=)
c.4395_4396delinsCG (p.Phe1465=)
c.4307-4253_4307-4252delinsCG (n.4307-4253_4307-4252delinsCG)
n.259_260delinsCG
n.253-4253_253-4252delinsCG
n.40-4253_40-4252delinsCG
c.628_629delinsCG
c.4668_4669delinsCG (p.Phe1556=)
c.4034-4253_4034-4252delinsCG (n.4034-4253_4034-4252delinsCG)
c.3303_3304delinsCG (p.Phe1101=)
c.5217_5218delinsCG (p.Phe1739=)
c.3488-4253_3488-4252delinsCG (n.3488-4253_3488-4252delinsCG)
c.4944_4945delinsCG (p.Phe1648=)
c.4398_4399delinsCG (p.Phe1466=)
c.4580-4253_4580-4252delinsCG (n.4580-4253_4580-4252delinsCG)
c.4125_4126delinsCG (p.Phe1375=)
c.3761-4253_3761-4252delinsCG (n.3761-4253_3761-4252delinsCG)
c.3576_3577delinsCG (p.Phe1192=)
c.5490_5491delinsCG (p.Phe1830=)
c.5214_5215delinsCG (p.Phe1738=)
9g.115046594delCA918540850TNCc.318-4253del
c.3215-4253del (n.3215-4253del)
c.3852del (p.Phe1284LeufsTer20)
c.1884del (p.Phe628LeufsTer20)
c.540del (p.Phe180LeufsTer20)
c.3899del
c.4941del (p.Phe1647LeufsTer20)
c.4395del (p.Phe1465LeufsTer20)
c.4307-4253del (n.4307-4253del)
n.259del
n.253-4253del
n.40-4253del
c.628del
c.4668del (p.Phe1556LeufsTer20)
c.4034-4253del (n.4034-4253del)
c.3303del (p.Phe1101LeufsTer20)
c.5217del (p.Phe1739LeufsTer20)
c.3488-4253del (n.3488-4253del)
c.4944del (p.Phe1648LeufsTer20)
c.4398del (p.Phe1466LeufsTer20)
c.4580-4253del (n.4580-4253del)
c.4125del (p.Phe1375LeufsTer20)
c.3761-4253del (n.3761-4253del)
c.3576del (p.Phe1192LeufsTer20)
c.5490del (p.Phe1830LeufsTer20)
c.5214del (p.Phe1738LeufsTer20)
 dbSNP
9g.115046594G>ACA5207785TNCc.318-4253C>T
c.3215-4253C>T (n.3215-4253C>T)
c.3852C>T (p.Phe1284=)
c.1884C>T (p.Phe628=)
c.540C>T (p.Phe180=)
c.3899C>T
c.4941C>T (p.Phe1647=)
c.4395C>T (p.Phe1465=)
c.4307-4253C>T (n.4307-4253C>T)
n.259C>T
n.253-4253C>T
n.40-4253C>T
c.628C>T
c.4668C>T (p.Phe1556=)
c.4034-4253C>T (n.4034-4253C>T)
c.3303C>T (p.Phe1101=)
c.5217C>T (p.Phe1739=)
c.3488-4253C>T (n.3488-4253C>T)
c.4944C>T (p.Phe1648=)
c.4398C>T (p.Phe1466=)
c.4580-4253C>T (n.4580-4253C>T)
c.4125C>T (p.Phe1375=)
c.3761-4253C>T (n.3761-4253C>T)
c.3576C>T (p.Phe1192=)
c.5490C>T (p.Phe1830=)
c.5214C>T (p.Phe1738=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046594G>CCA374631198TNCc.318-4253C>G
c.3215-4253C>G (n.3215-4253C>G)
c.3852C>G (p.Phe1284Leu)
c.1884C>G (p.Phe628Leu)
c.540C>G (p.Phe180Leu)
c.3899C>G
c.4941C>G (p.Phe1647Leu)
c.4395C>G (p.Phe1465Leu)
c.4307-4253C>G (n.4307-4253C>G)
n.259C>G
n.253-4253C>G
n.40-4253C>G
c.628C>G
c.4668C>G (p.Phe1556Leu)
c.4034-4253C>G (n.4034-4253C>G)
c.3303C>G (p.Phe1101Leu)
c.5217C>G (p.Phe1739Leu)
c.3488-4253C>G (n.3488-4253C>G)
c.4944C>G (p.Phe1648Leu)
c.4398C>G (p.Phe1466Leu)
c.4580-4253C>G (n.4580-4253C>G)
c.4125C>G (p.Phe1375Leu)
c.3761-4253C>G (n.3761-4253C>G)
c.3576C>G (p.Phe1192Leu)
c.5490C>G (p.Phe1830Leu)
c.5214C>G (p.Phe1738Leu)
9g.115046594G=CA1874118930TNCc.318-4253C=
c.3215-4253C= (n.3215-4253C=)
c.3852C= (p.Phe1284=)
c.1884C= (p.Phe628=)
c.540C= (p.Phe180=)
c.3899C=
c.4941C= (p.Phe1647=)
c.4395C= (p.Phe1465=)
c.4307-4253C= (n.4307-4253C=)
n.259C=
n.253-4253C=
n.40-4253C=
c.628C=
c.4668C= (p.Phe1556=)
c.4034-4253C= (n.4034-4253C=)
c.3303C= (p.Phe1101=)
c.5217C= (p.Phe1739=)
c.3488-4253C= (n.3488-4253C=)
c.4944C= (p.Phe1648=)
c.4398C= (p.Phe1466=)
c.4580-4253C= (n.4580-4253C=)
c.4125C= (p.Phe1375=)
c.3761-4253C= (n.3761-4253C=)
c.3576C= (p.Phe1192=)
c.5490C= (p.Phe1830=)
c.5214C= (p.Phe1738=)
9g.115046594G>TCA374631199TNCc.318-4253C>A
c.3215-4253C>A (n.3215-4253C>A)
c.3852C>A (p.Phe1284Leu)
c.1884C>A (p.Phe628Leu)
c.540C>A (p.Phe180Leu)
c.3899C>A
c.4941C>A (p.Phe1647Leu)
c.4395C>A (p.Phe1465Leu)
c.4307-4253C>A (n.4307-4253C>A)
n.259C>A
n.253-4253C>A
n.40-4253C>A
c.628C>A
c.4668C>A (p.Phe1556Leu)
c.4034-4253C>A (n.4034-4253C>A)
c.3303C>A (p.Phe1101Leu)
c.5217C>A (p.Phe1739Leu)
c.3488-4253C>A (n.3488-4253C>A)
c.4944C>A (p.Phe1648Leu)
c.4398C>A (p.Phe1466Leu)
c.4580-4253C>A (n.4580-4253C>A)
c.4125C>A (p.Phe1375Leu)
c.3761-4253C>A (n.3761-4253C>A)
c.3576C>A (p.Phe1192Leu)
c.5490C>A (p.Phe1830Leu)
c.5214C>A (p.Phe1738Leu)
9g.115046595A>CCA374631201TNCc.318-4254T>G
c.3215-4254T>G (n.3215-4254T>G)
c.3851T>G (p.Phe1284Cys)
c.1883T>G (p.Phe628Cys)
c.539T>G (p.Phe180Cys)
c.3898T>G
c.4940T>G (p.Phe1647Cys)
c.4394T>G (p.Phe1465Cys)
c.4307-4254T>G (n.4307-4254T>G)
n.258T>G
n.253-4254T>G
n.40-4254T>G
c.627T>G
c.4667T>G (p.Phe1556Cys)
c.4034-4254T>G (n.4034-4254T>G)
c.3302T>G (p.Phe1101Cys)
c.5216T>G (p.Phe1739Cys)
c.3488-4254T>G (n.3488-4254T>G)
c.4943T>G (p.Phe1648Cys)
c.4397T>G (p.Phe1466Cys)
c.4580-4254T>G (n.4580-4254T>G)
c.4124T>G (p.Phe1375Cys)
c.3761-4254T>G (n.3761-4254T>G)
c.3575T>G (p.Phe1192Cys)
c.5489T>G (p.Phe1830Cys)
c.5213T>G (p.Phe1738Cys)
9g.115046595A>GCA374631203TNCc.318-4254T>C
c.3215-4254T>C (n.3215-4254T>C)
c.3851T>C (p.Phe1284Ser)
c.1883T>C (p.Phe628Ser)
c.539T>C (p.Phe180Ser)
c.3898T>C
c.4940T>C (p.Phe1647Ser)
c.4394T>C (p.Phe1465Ser)
c.4307-4254T>C (n.4307-4254T>C)
n.258T>C
n.253-4254T>C
n.40-4254T>C
c.627T>C
c.4667T>C (p.Phe1556Ser)
c.4034-4254T>C (n.4034-4254T>C)
c.3302T>C (p.Phe1101Ser)
c.5216T>C (p.Phe1739Ser)
c.3488-4254T>C (n.3488-4254T>C)
c.4943T>C (p.Phe1648Ser)
c.4397T>C (p.Phe1466Ser)
c.4580-4254T>C (n.4580-4254T>C)
c.4124T>C (p.Phe1375Ser)
c.3761-4254T>C (n.3761-4254T>C)
c.3575T>C (p.Phe1192Ser)
c.5489T>C (p.Phe1830Ser)
c.5213T>C (p.Phe1738Ser)
9g.115046595A>TCA374631205TNCc.318-4254T>A
c.3215-4254T>A (n.3215-4254T>A)
c.3851T>A (p.Phe1284Tyr)
c.1883T>A (p.Phe628Tyr)
c.539T>A (p.Phe180Tyr)
c.3898T>A
c.4940T>A (p.Phe1647Tyr)
c.4394T>A (p.Phe1465Tyr)
c.4307-4254T>A (n.4307-4254T>A)
n.258T>A
n.253-4254T>A
n.40-4254T>A
c.627T>A
c.4667T>A (p.Phe1556Tyr)
c.4034-4254T>A (n.4034-4254T>A)
c.3302T>A (p.Phe1101Tyr)
c.5216T>A (p.Phe1739Tyr)
c.3488-4254T>A (n.3488-4254T>A)
c.4943T>A (p.Phe1648Tyr)
c.4397T>A (p.Phe1466Tyr)
c.4580-4254T>A (n.4580-4254T>A)
c.4124T>A (p.Phe1375Tyr)
c.3761-4254T>A (n.3761-4254T>A)
c.3575T>A (p.Phe1192Tyr)
c.5489T>A (p.Phe1830Tyr)
c.5213T>A (p.Phe1738Tyr)
9g.115046596A=CA1874118931TNCc.318-4255T=
c.3215-4255T= (n.3215-4255T=)
c.3850T= (p.Phe1284=)
c.1882T= (p.Phe628=)
c.538T= (p.Phe180=)
c.3897T=
c.4939T= (p.Phe1647=)
c.4393T= (p.Phe1465=)
c.4307-4255T= (n.4307-4255T=)
n.257T=
n.253-4255T=
n.40-4255T=
c.626T=
c.4666T= (p.Phe1556=)
c.4034-4255T= (n.4034-4255T=)
c.3301T= (p.Phe1101=)
c.5215T= (p.Phe1739=)
c.3488-4255T= (n.3488-4255T=)
c.4942T= (p.Phe1648=)
c.4396T= (p.Phe1466=)
c.4580-4255T= (n.4580-4255T=)
c.4123T= (p.Phe1375=)
c.3761-4255T= (n.3761-4255T=)
c.3574T= (p.Phe1192=)
c.5488T= (p.Phe1830=)
c.5212T= (p.Phe1738=)
9g.115046596A>CCA374631206TNCc.318-4255T>G
c.3215-4255T>G (n.3215-4255T>G)
c.3850T>G (p.Phe1284Val)
c.1882T>G (p.Phe628Val)
c.538T>G (p.Phe180Val)
c.3897T>G
c.4939T>G (p.Phe1647Val)
c.4393T>G (p.Phe1465Val)
c.4307-4255T>G (n.4307-4255T>G)
n.257T>G
n.253-4255T>G
n.40-4255T>G
c.626T>G
c.4666T>G (p.Phe1556Val)
c.4034-4255T>G (n.4034-4255T>G)
c.3301T>G (p.Phe1101Val)
c.5215T>G (p.Phe1739Val)
c.3488-4255T>G (n.3488-4255T>G)
c.4942T>G (p.Phe1648Val)
c.4396T>G (p.Phe1466Val)
c.4580-4255T>G (n.4580-4255T>G)
c.4123T>G (p.Phe1375Val)
c.3761-4255T>G (n.3761-4255T>G)
c.3574T>G (p.Phe1192Val)
c.5488T>G (p.Phe1830Val)
c.5212T>G (p.Phe1738Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115046596A>GCA374631210TNCc.318-4255T>C
c.3215-4255T>C (n.3215-4255T>C)
c.3850T>C (p.Phe1284Leu)
c.1882T>C (p.Phe628Leu)
c.538T>C (p.Phe180Leu)
c.3897T>C
c.4939T>C (p.Phe1647Leu)
c.4393T>C (p.Phe1465Leu)
c.4307-4255T>C (n.4307-4255T>C)
n.257T>C
n.253-4255T>C
n.40-4255T>C
c.626T>C
c.4666T>C (p.Phe1556Leu)
c.4034-4255T>C (n.4034-4255T>C)
c.3301T>C (p.Phe1101Leu)
c.5215T>C (p.Phe1739Leu)
c.3488-4255T>C (n.3488-4255T>C)
c.4942T>C (p.Phe1648Leu)
c.4396T>C (p.Phe1466Leu)
c.4580-4255T>C (n.4580-4255T>C)
c.4123T>C (p.Phe1375Leu)
c.3761-4255T>C (n.3761-4255T>C)
c.3574T>C (p.Phe1192Leu)
c.5488T>C (p.Phe1830Leu)
c.5212T>C (p.Phe1738Leu)
 dbSNP
9g.115046596A>TCA374631208TNCc.318-4255T>A
c.3215-4255T>A (n.3215-4255T>A)
c.3850T>A (p.Phe1284Ile)
c.1882T>A (p.Phe628Ile)
c.538T>A (p.Phe180Ile)
c.3897T>A
c.4939T>A (p.Phe1647Ile)
c.4393T>A (p.Phe1465Ile)
c.4307-4255T>A (n.4307-4255T>A)
n.257T>A
n.253-4255T>A
n.40-4255T>A
c.626T>A
c.4666T>A (p.Phe1556Ile)
c.4034-4255T>A (n.4034-4255T>A)
c.3301T>A (p.Phe1101Ile)
c.5215T>A (p.Phe1739Ile)
c.3488-4255T>A (n.3488-4255T>A)
c.4942T>A (p.Phe1648Ile)
c.4396T>A (p.Phe1466Ile)
c.4580-4255T>A (n.4580-4255T>A)
c.4123T>A (p.Phe1375Ile)
c.3761-4255T>A (n.3761-4255T>A)
c.3574T>A (p.Phe1192Ile)
c.5488T>A (p.Phe1830Ile)
c.5212T>A (p.Phe1738Ile)
9g.115046597G>ACA466912512TNCc.318-4256C>T
c.3215-4256C>T (n.3215-4256C>T)
c.3849C>T (p.Val1283=)
c.1881C>T (p.Val627=)
c.537C>T (p.Val179=)
c.3896C>T
c.4938C>T (p.Val1646=)
c.4392C>T (p.Val1464=)
c.4307-4256C>T (n.4307-4256C>T)
n.256C>T
n.253-4256C>T
n.40-4256C>T
c.625C>T
c.4665C>T (p.Val1555=)
c.4034-4256C>T (n.4034-4256C>T)
c.3300C>T (p.Val1100=)
c.5214C>T (p.Val1738=)
c.3488-4256C>T (n.3488-4256C>T)
c.4941C>T (p.Val1647=)
c.4395C>T (p.Val1465=)
c.4580-4256C>T (n.4580-4256C>T)
c.4122C>T (p.Val1374=)
c.3761-4256C>T (n.3761-4256C>T)
c.3573C>T (p.Val1191=)
c.5487C>T (p.Val1829=)
c.5211C>T (p.Val1737=)
9g.115046597G>CCA466912514TNCc.318-4256C>G
c.3215-4256C>G (n.3215-4256C>G)
c.3849C>G (p.Val1283=)
c.1881C>G (p.Val627=)
c.537C>G (p.Val179=)
c.3896C>G
c.4938C>G (p.Val1646=)
c.4392C>G (p.Val1464=)
c.4307-4256C>G (n.4307-4256C>G)
n.256C>G
n.253-4256C>G
n.40-4256C>G
c.625C>G
c.4665C>G (p.Val1555=)
c.4034-4256C>G (n.4034-4256C>G)
c.3300C>G (p.Val1100=)
c.5214C>G (p.Val1738=)
c.3488-4256C>G (n.3488-4256C>G)
c.4941C>G (p.Val1647=)
c.4395C>G (p.Val1465=)
c.4580-4256C>G (n.4580-4256C>G)
c.4122C>G (p.Val1374=)
c.3761-4256C>G (n.3761-4256C>G)
c.3573C>G (p.Val1191=)
c.5487C>G (p.Val1829=)
c.5211C>G (p.Val1737=)
9g.115046597G=CA1874118932TNCc.318-4256C=
c.3215-4256C= (n.3215-4256C=)
c.3849C= (p.Val1283=)
c.1881C= (p.Val627=)
c.537C= (p.Val179=)
c.3896C=
c.4938C= (p.Val1646=)
c.4392C= (p.Val1464=)
c.4307-4256C= (n.4307-4256C=)
n.256C=
n.253-4256C=
n.40-4256C=
c.625C=
c.4665C= (p.Val1555=)
c.4034-4256C= (n.4034-4256C=)
c.3300C= (p.Val1100=)
c.5214C= (p.Val1738=)
c.3488-4256C= (n.3488-4256C=)
c.4941C= (p.Val1647=)
c.4395C= (p.Val1465=)
c.4580-4256C= (n.4580-4256C=)
c.4122C= (p.Val1374=)
c.3761-4256C= (n.3761-4256C=)
c.3573C= (p.Val1191=)
c.5487C= (p.Val1829=)
c.5211C= (p.Val1737=)
9g.115046597G>TCA466912513TNCc.318-4256C>A
c.3215-4256C>A (n.3215-4256C>A)
c.3849C>A (p.Val1283=)
c.1881C>A (p.Val627=)
c.537C>A (p.Val179=)
c.3896C>A
c.4938C>A (p.Val1646=)
c.4392C>A (p.Val1464=)
c.4307-4256C>A (n.4307-4256C>A)
n.256C>A
n.253-4256C>A
n.40-4256C>A
c.625C>A
c.4665C>A (p.Val1555=)
c.4034-4256C>A (n.4034-4256C>A)
c.3300C>A (p.Val1100=)
c.5214C>A (p.Val1738=)
c.3488-4256C>A (n.3488-4256C>A)
c.4941C>A (p.Val1647=)
c.4395C>A (p.Val1465=)
c.4580-4256C>A (n.4580-4256C>A)
c.4122C>A (p.Val1374=)
c.3761-4256C>A (n.3761-4256C>A)
c.3573C>A (p.Val1191=)
c.5487C>A (p.Val1829=)
c.5211C>A (p.Val1737=)
 dbSNP
9g.115046598A>CCA374631212TNCc.318-4257T>G
c.3215-4257T>G (n.3215-4257T>G)
c.3848T>G (p.Val1283Gly)
c.1880T>G (p.Val627Gly)
c.536T>G (p.Val179Gly)
c.3895T>G
c.4937T>G (p.Val1646Gly)
c.4391T>G (p.Val1464Gly)
c.4307-4257T>G (n.4307-4257T>G)
n.255T>G
n.253-4257T>G
n.40-4257T>G
c.624T>G
c.4664T>G (p.Val1555Gly)
c.4034-4257T>G (n.4034-4257T>G)
c.3299T>G (p.Val1100Gly)
c.5213T>G (p.Val1738Gly)
c.3488-4257T>G (n.3488-4257T>G)
c.4940T>G (p.Val1647Gly)
c.4394T>G (p.Val1465Gly)
c.4580-4257T>G (n.4580-4257T>G)
c.4121T>G (p.Val1374Gly)
c.3761-4257T>G (n.3761-4257T>G)
c.3572T>G (p.Val1191Gly)
c.5486T>G (p.Val1829Gly)
c.5210T>G (p.Val1737Gly)
9g.115046598A>GCA374631215TNCc.318-4257T>C
c.3215-4257T>C (n.3215-4257T>C)
c.3848T>C (p.Val1283Ala)
c.1880T>C (p.Val627Ala)
c.536T>C (p.Val179Ala)
c.3895T>C
c.4937T>C (p.Val1646Ala)
c.4391T>C (p.Val1464Ala)
c.4307-4257T>C (n.4307-4257T>C)
n.255T>C
n.253-4257T>C
n.40-4257T>C
c.624T>C
c.4664T>C (p.Val1555Ala)
c.4034-4257T>C (n.4034-4257T>C)
c.3299T>C (p.Val1100Ala)
c.5213T>C (p.Val1738Ala)
c.3488-4257T>C (n.3488-4257T>C)
c.4940T>C (p.Val1647Ala)
c.4394T>C (p.Val1465Ala)
c.4580-4257T>C (n.4580-4257T>C)
c.4121T>C (p.Val1374Ala)
c.3761-4257T>C (n.3761-4257T>C)
c.3572T>C (p.Val1191Ala)
c.5486T>C (p.Val1829Ala)
c.5210T>C (p.Val1737Ala)
9g.115046598A>TCA374631213TNCc.318-4257T>A
c.3215-4257T>A (n.3215-4257T>A)
c.3848T>A (p.Val1283Asp)
c.1880T>A (p.Val627Asp)
c.536T>A (p.Val179Asp)
c.3895T>A
c.4937T>A (p.Val1646Asp)
c.4391T>A (p.Val1464Asp)
c.4307-4257T>A (n.4307-4257T>A)
n.255T>A
n.253-4257T>A
n.40-4257T>A
c.624T>A
c.4664T>A (p.Val1555Asp)
c.4034-4257T>A (n.4034-4257T>A)
c.3299T>A (p.Val1100Asp)
c.5213T>A (p.Val1738Asp)
c.3488-4257T>A (n.3488-4257T>A)
c.4940T>A (p.Val1647Asp)
c.4394T>A (p.Val1465Asp)
c.4580-4257T>A (n.4580-4257T>A)
c.4121T>A (p.Val1374Asp)
c.3761-4257T>A (n.3761-4257T>A)
c.3572T>A (p.Val1191Asp)
c.5486T>A (p.Val1829Asp)
c.5210T>A (p.Val1737Asp)
9g.115046599C>ACA374631216TNCc.318-4258G>T
c.3215-4258G>T (n.3215-4258G>T)
c.3847G>T (p.Val1283Phe)
c.1879G>T (p.Val627Phe)
c.535G>T (p.Val179Phe)
c.3894G>T
c.4936G>T (p.Val1646Phe)
c.4390G>T (p.Val1464Phe)
c.4307-4258G>T (n.4307-4258G>T)
n.254G>T
n.253-4258G>T
n.40-4258G>T
c.623G>T
c.4663G>T (p.Val1555Phe)
c.4034-4258G>T (n.4034-4258G>T)
c.3298G>T (p.Val1100Phe)
c.5212G>T (p.Val1738Phe)
c.3488-4258G>T (n.3488-4258G>T)
c.4939G>T (p.Val1647Phe)
c.4393G>T (p.Val1465Phe)
c.4580-4258G>T (n.4580-4258G>T)
c.4120G>T (p.Val1374Phe)
c.3761-4258G>T (n.3761-4258G>T)
c.3571G>T (p.Val1191Phe)
c.5485G>T (p.Val1829Phe)
c.5209G>T (p.Val1737Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.115046599C=CA1874118933TNCc.318-4258G=
c.3215-4258G= (n.3215-4258G=)
c.3847G= (p.Val1283=)
c.1879G= (p.Val627=)
c.535G= (p.Val179=)
c.3894G=
c.4936G= (p.Val1646=)
c.4390G= (p.Val1464=)
c.4307-4258G= (n.4307-4258G=)
n.254G=
n.253-4258G=
n.40-4258G=
c.623G=
c.4663G= (p.Val1555=)
c.4034-4258G= (n.4034-4258G=)
c.3298G= (p.Val1100=)
c.5212G= (p.Val1738=)
c.3488-4258G= (n.3488-4258G=)
c.4939G= (p.Val1647=)
c.4393G= (p.Val1465=)
c.4580-4258G= (n.4580-4258G=)
c.4120G= (p.Val1374=)
c.3761-4258G= (n.3761-4258G=)
c.3571G= (p.Val1191=)
c.5485G= (p.Val1829=)
c.5209G= (p.Val1737=)
9g.115046599C>GCA374631218TNCc.318-4258G>C
c.3215-4258G>C (n.3215-4258G>C)
c.3847G>C (p.Val1283Leu)
c.1879G>C (p.Val627Leu)
c.535G>C (p.Val179Leu)
c.3894G>C
c.4936G>C (p.Val1646Leu)
c.4390G>C (p.Val1464Leu)
c.4307-4258G>C (n.4307-4258G>C)
n.254G>C
n.253-4258G>C
n.40-4258G>C
c.623G>C
c.4663G>C (p.Val1555Leu)
c.4034-4258G>C (n.4034-4258G>C)
c.3298G>C (p.Val1100Leu)
c.5212G>C (p.Val1738Leu)
c.3488-4258G>C (n.3488-4258G>C)
c.4939G>C (p.Val1647Leu)
c.4393G>C (p.Val1465Leu)
c.4580-4258G>C (n.4580-4258G>C)
c.4120G>C (p.Val1374Leu)
c.3761-4258G>C (n.3761-4258G>C)
c.3571G>C (p.Val1191Leu)
c.5485G>C (p.Val1829Leu)
c.5209G>C (p.Val1737Leu)
9g.115046599C>TCA374631219TNCc.318-4258G>A
c.3215-4258G>A (n.3215-4258G>A)
c.3847G>A (p.Val1283Ile)
c.1879G>A (p.Val627Ile)
c.535G>A (p.Val179Ile)
c.3894G>A
c.4936G>A (p.Val1646Ile)
c.4390G>A (p.Val1464Ile)
c.4307-4258G>A (n.4307-4258G>A)
n.254G>A
n.253-4258G>A
n.40-4258G>A
c.623G>A
c.4663G>A (p.Val1555Ile)
c.4034-4258G>A (n.4034-4258G>A)
c.3298G>A (p.Val1100Ile)
c.5212G>A (p.Val1738Ile)
c.3488-4258G>A (n.3488-4258G>A)
c.4939G>A (p.Val1647Ile)
c.4393G>A (p.Val1465Ile)
c.4580-4258G>A (n.4580-4258G>A)
c.4120G>A (p.Val1374Ile)
c.3761-4258G>A (n.3761-4258G>A)
c.3571G>A (p.Val1191Ile)
c.5485G>A (p.Val1829Ile)
c.5209G>A (p.Val1737Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046600C>ACA466912517TNCc.318-4259G>T
c.3215-4259G>T (n.3215-4259G>T)
c.3846G>T (p.Gly1282=)
c.1878G>T (p.Gly626=)
c.534G>T (p.Gly178=)
c.3893G>T
c.4935G>T (p.Gly1645=)
c.4389G>T (p.Gly1463=)
c.4307-4259G>T (n.4307-4259G>T)
n.253G>T
n.253-4259G>T
n.40-4259G>T
c.622G>T
c.4662G>T (p.Gly1554=)
c.4034-4259G>T (n.4034-4259G>T)
c.3297G>T (p.Gly1099=)
c.5211G>T (p.Gly1737=)
c.3488-4259G>T (n.3488-4259G>T)
c.4938G>T (p.Gly1646=)
c.4392G>T (p.Gly1464=)
c.4580-4259G>T (n.4580-4259G>T)
c.4119G>T (p.Gly1373=)
c.3761-4259G>T (n.3761-4259G>T)
c.3570G>T (p.Gly1190=)
c.5484G>T (p.Gly1828=)
c.5208G>T (p.Gly1736=)
9g.115046600C=CA1874118934TNCc.318-4259G=
c.3215-4259G= (n.3215-4259G=)
c.3846G= (p.Gly1282=)
c.1878G= (p.Gly626=)
c.534G= (p.Gly178=)
c.3893G=
c.4935G= (p.Gly1645=)
c.4389G= (p.Gly1463=)
c.4307-4259G= (n.4307-4259G=)
n.253G=
n.253-4259G=
n.40-4259G=
c.622G=
c.4662G= (p.Gly1554=)
c.4034-4259G= (n.4034-4259G=)
c.3297G= (p.Gly1099=)
c.5211G= (p.Gly1737=)
c.3488-4259G= (n.3488-4259G=)
c.4938G= (p.Gly1646=)
c.4392G= (p.Gly1464=)
c.4580-4259G= (n.4580-4259G=)
c.4119G= (p.Gly1373=)
c.3761-4259G= (n.3761-4259G=)
c.3570G= (p.Gly1190=)
c.5484G= (p.Gly1828=)
c.5208G= (p.Gly1736=)
9g.115046600C>GCA466912518TNCc.318-4259G>C
c.3215-4259G>C (n.3215-4259G>C)
c.3846G>C (p.Gly1282=)
c.1878G>C (p.Gly626=)
c.534G>C (p.Gly178=)
c.3893G>C
c.4935G>C (p.Gly1645=)
c.4389G>C (p.Gly1463=)
c.4307-4259G>C (n.4307-4259G>C)
n.253G>C
n.253-4259G>C
n.40-4259G>C
c.622G>C
c.4662G>C (p.Gly1554=)
c.4034-4259G>C (n.4034-4259G>C)
c.3297G>C (p.Gly1099=)
c.5211G>C (p.Gly1737=)
c.3488-4259G>C (n.3488-4259G>C)
c.4938G>C (p.Gly1646=)
c.4392G>C (p.Gly1464=)
c.4580-4259G>C (n.4580-4259G>C)
c.4119G>C (p.Gly1373=)
c.3761-4259G>C (n.3761-4259G>C)
c.3570G>C (p.Gly1190=)
c.5484G>C (p.Gly1828=)
c.5208G>C (p.Gly1736=)
9g.115046600C>TCA466912520TNCc.318-4259G>A
c.3215-4259G>A (n.3215-4259G>A)
c.3846G>A (p.Gly1282=)
c.1878G>A (p.Gly626=)
c.534G>A (p.Gly178=)
c.3893G>A
c.4935G>A (p.Gly1645=)
c.4389G>A (p.Gly1463=)
c.4307-4259G>A (n.4307-4259G>A)
n.253G>A
n.253-4259G>A
n.40-4259G>A
c.622G>A
c.4662G>A (p.Gly1554=)
c.4034-4259G>A (n.4034-4259G>A)
c.3297G>A (p.Gly1099=)
c.5211G>A (p.Gly1737=)
c.3488-4259G>A (n.3488-4259G>A)
c.4938G>A (p.Gly1646=)
c.4392G>A (p.Gly1464=)
c.4580-4259G>A (n.4580-4259G>A)
c.4119G>A (p.Gly1373=)
c.3761-4259G>A (n.3761-4259G>A)
c.3570G>A (p.Gly1190=)
c.5484G>A (p.Gly1828=)
c.5208G>A (p.Gly1736=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115046601C>ACA374631220TNCc.318-4260G>T
c.3215-4260G>T (n.3215-4260G>T)
c.3845G>T (p.Gly1282Val)
c.1877G>T (p.Gly626Val)
c.533G>T (p.Gly178Val)
c.3892G>T
c.4934G>T (p.Gly1645Val)
c.4388G>T (p.Gly1463Val)
c.4307-4260G>T (n.4307-4260G>T)
n.252G>T
n.253-4260G>T
n.40-4260G>T
c.621G>T
c.4661G>T (p.Gly1554Val)
c.4034-4260G>T (n.4034-4260G>T)
c.3296G>T (p.Gly1099Val)
c.5210G>T (p.Gly1737Val)
c.3488-4260G>T (n.3488-4260G>T)
c.4937G>T (p.Gly1646Val)
c.4391G>T (p.Gly1464Val)
c.4580-4260G>T (n.4580-4260G>T)
c.4118G>T (p.Gly1373Val)
c.3761-4260G>T (n.3761-4260G>T)
c.3569G>T (p.Gly1190Val)
c.5483G>T (p.Gly1828Val)
c.5207G>T (p.Gly1736Val)
9g.115046601C=CA1874118935TNCc.318-4260G=
c.3215-4260G= (n.3215-4260G=)
c.3845G= (p.Gly1282=)
c.1877G= (p.Gly626=)
c.533G= (p.Gly178=)
c.3892G=
c.4934G= (p.Gly1645=)
c.4388G= (p.Gly1463=)
c.4307-4260G= (n.4307-4260G=)
n.252G=
n.253-4260G=
n.40-4260G=
c.621G=
c.4661G= (p.Gly1554=)
c.4034-4260G= (n.4034-4260G=)
c.3296G= (p.Gly1099=)
c.5210G= (p.Gly1737=)
c.3488-4260G= (n.3488-4260G=)
c.4937G= (p.Gly1646=)
c.4391G= (p.Gly1464=)
c.4580-4260G= (n.4580-4260G=)
c.4118G= (p.Gly1373=)
c.3761-4260G= (n.3761-4260G=)
c.3569G= (p.Gly1190=)
c.5483G= (p.Gly1828=)
c.5207G= (p.Gly1736=)
9g.115046601C>GCA374631221TNCc.318-4260G>C
c.3215-4260G>C (n.3215-4260G>C)
c.3845G>C (p.Gly1282Ala)
c.1877G>C (p.Gly626Ala)
c.533G>C (p.Gly178Ala)
c.3892G>C
c.4934G>C (p.Gly1645Ala)
c.4388G>C (p.Gly1463Ala)
c.4307-4260G>C (n.4307-4260G>C)
n.252G>C
n.253-4260G>C
n.40-4260G>C
c.621G>C
c.4661G>C (p.Gly1554Ala)
c.4034-4260G>C (n.4034-4260G>C)
c.3296G>C (p.Gly1099Ala)
c.5210G>C (p.Gly1737Ala)
c.3488-4260G>C (n.3488-4260G>C)
c.4937G>C (p.Gly1646Ala)
c.4391G>C (p.Gly1464Ala)
c.4580-4260G>C (n.4580-4260G>C)
c.4118G>C (p.Gly1373Ala)
c.3761-4260G>C (n.3761-4260G>C)
c.3569G>C (p.Gly1190Ala)
c.5483G>C (p.Gly1828Ala)
c.5207G>C (p.Gly1736Ala)
 dbSNP
9g.115046601C>TCA374631222TNCc.318-4260G>A
c.3215-4260G>A (n.3215-4260G>A)
c.3845G>A (p.Gly1282Glu)
c.1877G>A (p.Gly626Glu)
c.533G>A (p.Gly178Glu)
c.3892G>A
c.4934G>A (p.Gly1645Glu)
c.4388G>A (p.Gly1463Glu)
c.4307-4260G>A (n.4307-4260G>A)
n.252G>A
n.253-4260G>A
n.40-4260G>A
c.621G>A
c.4661G>A (p.Gly1554Glu)
c.4034-4260G>A (n.4034-4260G>A)
c.3296G>A (p.Gly1099Glu)
c.5210G>A (p.Gly1737Glu)
c.3488-4260G>A (n.3488-4260G>A)
c.4937G>A (p.Gly1646Glu)
c.4391G>A (p.Gly1464Glu)
c.4580-4260G>A (n.4580-4260G>A)
c.4118G>A (p.Gly1373Glu)
c.3761-4260G>A (n.3761-4260G>A)
c.3569G>A (p.Gly1190Glu)
c.5483G>A (p.Gly1828Glu)
c.5207G>A (p.Gly1736Glu)
9g.115046602C>ACA374631224TNCc.318-4261G>T
c.3215-4261G>T (n.3215-4261G>T)
c.3844G>T (p.Gly1282Trp)
c.1876G>T (p.Gly626Trp)
c.532G>T (p.Gly178Trp)
c.3891G>T
c.4933G>T (p.Gly1645Trp)
c.4387G>T (p.Gly1463Trp)
c.4307-4261G>T (n.4307-4261G>T)
n.251G>T
n.253-4261G>T
n.40-4261G>T
c.620G>T
c.4660G>T (p.Gly1554Trp)
c.4034-4261G>T (n.4034-4261G>T)
c.3295G>T (p.Gly1099Trp)
c.5209G>T (p.Gly1737Trp)
c.3488-4261G>T (n.3488-4261G>T)
c.4936G>T (p.Gly1646Trp)
c.4390G>T (p.Gly1464Trp)
c.4580-4261G>T (n.4580-4261G>T)
c.4117G>T (p.Gly1373Trp)
c.3761-4261G>T (n.3761-4261G>T)
c.3568G>T (p.Gly1190Trp)
c.5482G>T (p.Gly1828Trp)
c.5206G>T (p.Gly1736Trp)
 COSMIC
9g.115046602C=CA1874118936TNCc.318-4261G=
c.3215-4261G= (n.3215-4261G=)
c.3844G= (p.Gly1282=)
c.1876G= (p.Gly626=)
c.532G= (p.Gly178=)
c.3891G=
c.4933G= (p.Gly1645=)
c.4387G= (p.Gly1463=)
c.4307-4261G= (n.4307-4261G=)
n.251G=
n.253-4261G=
n.40-4261G=
c.620G=
c.4660G= (p.Gly1554=)
c.4034-4261G= (n.4034-4261G=)
c.3295G= (p.Gly1099=)
c.5209G= (p.Gly1737=)
c.3488-4261G= (n.3488-4261G=)
c.4936G= (p.Gly1646=)
c.4390G= (p.Gly1464=)
c.4580-4261G= (n.4580-4261G=)
c.4117G= (p.Gly1373=)
c.3761-4261G= (n.3761-4261G=)
c.3568G= (p.Gly1190=)
c.5482G= (p.Gly1828=)
c.5206G= (p.Gly1736=)
9g.115046602C>GCA374631225TNCc.318-4261G>C
c.3215-4261G>C (n.3215-4261G>C)
c.3844G>C (p.Gly1282Arg)
c.1876G>C (p.Gly626Arg)
c.532G>C (p.Gly178Arg)
c.3891G>C
c.4933G>C (p.Gly1645Arg)
c.4387G>C (p.Gly1463Arg)
c.4307-4261G>C (n.4307-4261G>C)
n.251G>C
n.253-4261G>C
n.40-4261G>C
c.620G>C
c.4660G>C (p.Gly1554Arg)
c.4034-4261G>C (n.4034-4261G>C)
c.3295G>C (p.Gly1099Arg)
c.5209G>C (p.Gly1737Arg)
c.3488-4261G>C (n.3488-4261G>C)
c.4936G>C (p.Gly1646Arg)
c.4390G>C (p.Gly1464Arg)
c.4580-4261G>C (n.4580-4261G>C)
c.4117G>C (p.Gly1373Arg)
c.3761-4261G>C (n.3761-4261G>C)
c.3568G>C (p.Gly1190Arg)
c.5482G>C (p.Gly1828Arg)
c.5206G>C (p.Gly1736Arg)
9g.115046602C>TCA374631226TNCc.318-4261G>A
c.3215-4261G>A (n.3215-4261G>A)
c.3844G>A (p.Gly1282Arg)
c.1876G>A (p.Gly626Arg)
c.532G>A (p.Gly178Arg)
c.3891G>A
c.4933G>A (p.Gly1645Arg)
c.4387G>A (p.Gly1463Arg)
c.4307-4261G>A (n.4307-4261G>A)
n.251G>A
n.253-4261G>A
n.40-4261G>A
c.620G>A
c.4660G>A (p.Gly1554Arg)
c.4034-4261G>A (n.4034-4261G>A)
c.3295G>A (p.Gly1099Arg)
c.5209G>A (p.Gly1737Arg)
c.3488-4261G>A (n.3488-4261G>A)
c.4936G>A (p.Gly1646Arg)
c.4390G>A (p.Gly1464Arg)
c.4580-4261G>A (n.4580-4261G>A)
c.4117G>A (p.Gly1373Arg)
c.3761-4261G>A (n.3761-4261G>A)
c.3568G>A (p.Gly1190Arg)
c.5482G>A (p.Gly1828Arg)
c.5206G>A (p.Gly1736Arg)
 dbSNP
9g.115046603T>ACA5207786TNCc.318-4262A>T
c.3215-4262A>T (n.3215-4262A>T)
c.3843A>T (p.Glu1281Asp)
c.1875A>T (p.Glu625Asp)
c.531A>T (p.Glu177Asp)
c.3890A>T
c.4932A>T (p.Glu1644Asp)
c.4386A>T (p.Glu1462Asp)
c.4307-4262A>T (n.4307-4262A>T)
n.250A>T
n.253-4262A>T
n.40-4262A>T
c.619A>T
c.4659A>T (p.Glu1553Asp)
c.4034-4262A>T (n.4034-4262A>T)
c.3294A>T (p.Glu1098Asp)
c.5208A>T (p.Glu1736Asp)
c.3488-4262A>T (n.3488-4262A>T)
c.4935A>T (p.Glu1645Asp)
c.4389A>T (p.Glu1463Asp)
c.4580-4262A>T (n.4580-4262A>T)
c.4116A>T (p.Glu1372Asp)
c.3761-4262A>T (n.3761-4262A>T)
c.3567A>T (p.Glu1189Asp)
c.5481A>T (p.Glu1827Asp)
c.5205A>T (p.Glu1735Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046603T>CCA466912525TNCc.318-4262A>G
c.3215-4262A>G (n.3215-4262A>G)
c.3843A>G (p.Glu1281=)
c.1875A>G (p.Glu625=)
c.531A>G (p.Glu177=)
c.3890A>G
c.4932A>G (p.Glu1644=)
c.4386A>G (p.Glu1462=)
c.4307-4262A>G (n.4307-4262A>G)
n.250A>G
n.253-4262A>G
n.40-4262A>G
c.619A>G
c.4659A>G (p.Glu1553=)
c.4034-4262A>G (n.4034-4262A>G)
c.3294A>G (p.Glu1098=)
c.5208A>G (p.Glu1736=)
c.3488-4262A>G (n.3488-4262A>G)
c.4935A>G (p.Glu1645=)
c.4389A>G (p.Glu1463=)
c.4580-4262A>G (n.4580-4262A>G)
c.4116A>G (p.Glu1372=)
c.3761-4262A>G (n.3761-4262A>G)
c.3567A>G (p.Glu1189=)
c.5481A>G (p.Glu1827=)
c.5205A>G (p.Glu1735=)
9g.115046603T>GCA374631228TNCc.318-4262A>C
c.3215-4262A>C (n.3215-4262A>C)
c.3843A>C (p.Glu1281Asp)
c.1875A>C (p.Glu625Asp)
c.531A>C (p.Glu177Asp)
c.3890A>C
c.4932A>C (p.Glu1644Asp)
c.4386A>C (p.Glu1462Asp)
c.4307-4262A>C (n.4307-4262A>C)
n.250A>C
n.253-4262A>C
n.40-4262A>C
c.619A>C
c.4659A>C (p.Glu1553Asp)
c.4034-4262A>C (n.4034-4262A>C)
c.3294A>C (p.Glu1098Asp)
c.5208A>C (p.Glu1736Asp)
c.3488-4262A>C (n.3488-4262A>C)
c.4935A>C (p.Glu1645Asp)
c.4389A>C (p.Glu1463Asp)
c.4580-4262A>C (n.4580-4262A>C)
c.4116A>C (p.Glu1372Asp)
c.3761-4262A>C (n.3761-4262A>C)
c.3567A>C (p.Glu1189Asp)
c.5481A>C (p.Glu1827Asp)
c.5205A>C (p.Glu1735Asp)
9g.115046603T=CA1874118937TNCc.318-4262A=
c.3215-4262A= (n.3215-4262A=)
c.3843A= (p.Glu1281=)
c.1875A= (p.Glu625=)
c.531A= (p.Glu177=)
c.3890A=
c.4932A= (p.Glu1644=)
c.4386A= (p.Glu1462=)
c.4307-4262A= (n.4307-4262A=)
n.250A=
n.253-4262A=
n.40-4262A=
c.619A=
c.4659A= (p.Glu1553=)
c.4034-4262A= (n.4034-4262A=)
c.3294A= (p.Glu1098=)
c.5208A= (p.Glu1736=)
c.3488-4262A= (n.3488-4262A=)
c.4935A= (p.Glu1645=)
c.4389A= (p.Glu1463=)
c.4580-4262A= (n.4580-4262A=)
c.4116A= (p.Glu1372=)
c.3761-4262A= (n.3761-4262A=)
c.3567A= (p.Glu1189=)
c.5481A= (p.Glu1827=)
c.5205A= (p.Glu1735=)
9g.115046604T>ACA374631232TNCc.318-4263A>T
c.3215-4263A>T (n.3215-4263A>T)
c.3842A>T (p.Glu1281Val)
c.1874A>T (p.Glu625Val)
c.530A>T (p.Glu177Val)
c.3889A>T
c.4931A>T (p.Glu1644Val)
c.4385A>T (p.Glu1462Val)
c.4307-4263A>T (n.4307-4263A>T)
n.249A>T
n.253-4263A>T
n.40-4263A>T
c.618A>T
c.4658A>T (p.Glu1553Val)
c.4034-4263A>T (n.4034-4263A>T)
c.3293A>T (p.Glu1098Val)
c.5207A>T (p.Glu1736Val)
c.3488-4263A>T (n.3488-4263A>T)
c.4934A>T (p.Glu1645Val)
c.4388A>T (p.Glu1463Val)
c.4580-4263A>T (n.4580-4263A>T)
c.4115A>T (p.Glu1372Val)
c.3761-4263A>T (n.3761-4263A>T)
c.3566A>T (p.Glu1189Val)
c.5480A>T (p.Glu1827Val)
c.5204A>T (p.Glu1735Val)
9g.115046604T>CCA374631231TNCc.318-4263A>G
c.3215-4263A>G (n.3215-4263A>G)
c.3842A>G (p.Glu1281Gly)
c.1874A>G (p.Glu625Gly)
c.530A>G (p.Glu177Gly)
c.3889A>G
c.4931A>G (p.Glu1644Gly)
c.4385A>G (p.Glu1462Gly)
c.4307-4263A>G (n.4307-4263A>G)
n.249A>G
n.253-4263A>G
n.40-4263A>G
c.618A>G
c.4658A>G (p.Glu1553Gly)
c.4034-4263A>G (n.4034-4263A>G)
c.3293A>G (p.Glu1098Gly)
c.5207A>G (p.Glu1736Gly)
c.3488-4263A>G (n.3488-4263A>G)
c.4934A>G (p.Glu1645Gly)
c.4388A>G (p.Glu1463Gly)
c.4580-4263A>G (n.4580-4263A>G)
c.4115A>G (p.Glu1372Gly)
c.3761-4263A>G (n.3761-4263A>G)
c.3566A>G (p.Glu1189Gly)
c.5480A>G (p.Glu1827Gly)
c.5204A>G (p.Glu1735Gly)
9g.115046604T>GCA374631229TNCc.318-4263A>C
c.3215-4263A>C (n.3215-4263A>C)
c.3842A>C (p.Glu1281Ala)
c.1874A>C (p.Glu625Ala)
c.530A>C (p.Glu177Ala)
c.3889A>C
c.4931A>C (p.Glu1644Ala)
c.4385A>C (p.Glu1462Ala)
c.4307-4263A>C (n.4307-4263A>C)
n.249A>C
n.253-4263A>C
n.40-4263A>C
c.618A>C
c.4658A>C (p.Glu1553Ala)
c.4034-4263A>C (n.4034-4263A>C)
c.3293A>C (p.Glu1098Ala)
c.5207A>C (p.Glu1736Ala)
c.3488-4263A>C (n.3488-4263A>C)
c.4934A>C (p.Glu1645Ala)
c.4388A>C (p.Glu1463Ala)
c.4580-4263A>C (n.4580-4263A>C)
c.4115A>C (p.Glu1372Ala)
c.3761-4263A>C (n.3761-4263A>C)
c.3566A>C (p.Glu1189Ala)
c.5480A>C (p.Glu1827Ala)
c.5204A>C (p.Glu1735Ala)
9g.115046605C>ACA374631234TNCc.318-4264G>T
c.3215-4264G>T (n.3215-4264G>T)
c.3841G>T (p.Glu1281Ter)
c.1873G>T (p.Glu625Ter)
c.529G>T (p.Glu177Ter)
c.3888G>T
c.4930G>T (p.Glu1644Ter)
c.4384G>T (p.Glu1462Ter)
c.4307-4264G>T (n.4307-4264G>T)
n.248G>T
n.253-4264G>T
n.40-4264G>T
c.617G>T
c.4657G>T (p.Glu1553Ter)
c.4034-4264G>T (n.4034-4264G>T)
c.3292G>T (p.Glu1098Ter)
c.5206G>T (p.Glu1736Ter)
c.3488-4264G>T (n.3488-4264G>T)
c.4933G>T (p.Glu1645Ter)
c.4387G>T (p.Glu1463Ter)
c.4580-4264G>T (n.4580-4264G>T)
c.4114G>T (p.Glu1372Ter)
c.3761-4264G>T (n.3761-4264G>T)
c.3565G>T (p.Glu1189Ter)
c.5479G>T (p.Glu1827Ter)
c.5203G>T (p.Glu1735Ter)
9g.115046605C>GCA374631236TNCc.318-4264G>C
c.3215-4264G>C (n.3215-4264G>C)
c.3841G>C (p.Glu1281Gln)
c.1873G>C (p.Glu625Gln)
c.529G>C (p.Glu177Gln)
c.3888G>C
c.4930G>C (p.Glu1644Gln)
c.4384G>C (p.Glu1462Gln)
c.4307-4264G>C (n.4307-4264G>C)
n.248G>C
n.253-4264G>C
n.40-4264G>C
c.617G>C
c.4657G>C (p.Glu1553Gln)
c.4034-4264G>C (n.4034-4264G>C)
c.3292G>C (p.Glu1098Gln)
c.5206G>C (p.Glu1736Gln)
c.3488-4264G>C (n.3488-4264G>C)
c.4933G>C (p.Glu1645Gln)
c.4387G>C (p.Glu1463Gln)
c.4580-4264G>C (n.4580-4264G>C)
c.4114G>C (p.Glu1372Gln)
c.3761-4264G>C (n.3761-4264G>C)
c.3565G>C (p.Glu1189Gln)
c.5479G>C (p.Glu1827Gln)
c.5203G>C (p.Glu1735Gln)
9g.115046605C>TCA374631238TNCc.318-4264G>A
c.3215-4264G>A (n.3215-4264G>A)
c.3841G>A (p.Glu1281Lys)
c.1873G>A (p.Glu625Lys)
c.529G>A (p.Glu177Lys)
c.3888G>A
c.4930G>A (p.Glu1644Lys)
c.4384G>A (p.Glu1462Lys)
c.4307-4264G>A (n.4307-4264G>A)
n.248G>A
n.253-4264G>A
n.40-4264G>A
c.617G>A
c.4657G>A (p.Glu1553Lys)
c.4034-4264G>A (n.4034-4264G>A)
c.3292G>A (p.Glu1098Lys)
c.5206G>A (p.Glu1736Lys)
c.3488-4264G>A (n.3488-4264G>A)
c.4933G>A (p.Glu1645Lys)
c.4387G>A (p.Glu1463Lys)
c.4580-4264G>A (n.4580-4264G>A)
c.4114G>A (p.Glu1372Lys)
c.3761-4264G>A (n.3761-4264G>A)
c.3565G>A (p.Glu1189Lys)
c.5479G>A (p.Glu1827Lys)
c.5203G>A (p.Glu1735Lys)
9g.115046606A>CCA374631240TNCc.318-4265T>G
c.3215-4265T>G (n.3215-4265T>G)
c.3840T>G (p.Asp1280Glu)
c.1872T>G (p.Asp624Glu)
c.528T>G (p.Asp176Glu)
c.3887T>G
c.4929T>G (p.Asp1643Glu)
c.4383T>G (p.Asp1461Glu)
c.4307-4265T>G (n.4307-4265T>G)
n.247T>G
n.253-4265T>G
n.40-4265T>G
c.616T>G
c.4656T>G (p.Asp1552Glu)
c.4034-4265T>G (n.4034-4265T>G)
c.3291T>G (p.Asp1097Glu)
c.5205T>G (p.Asp1735Glu)
c.3488-4265T>G (n.3488-4265T>G)
c.4932T>G (p.Asp1644Glu)
c.4386T>G (p.Asp1462Glu)
c.4580-4265T>G (n.4580-4265T>G)
c.4113T>G (p.Asp1371Glu)
c.3761-4265T>G (n.3761-4265T>G)
c.3564T>G (p.Asp1188Glu)
c.5478T>G (p.Asp1826Glu)
c.5202T>G (p.Asp1734Glu)
 gnomAD v4
9g.115046606A>GCA466912529TNCc.318-4265T>C
c.3215-4265T>C (n.3215-4265T>C)
c.3840T>C (p.Asp1280=)
c.1872T>C (p.Asp624=)
c.528T>C (p.Asp176=)
c.3887T>C
c.4929T>C (p.Asp1643=)
c.4383T>C (p.Asp1461=)
c.4307-4265T>C (n.4307-4265T>C)
n.247T>C
n.253-4265T>C
n.40-4265T>C
c.616T>C
c.4656T>C (p.Asp1552=)
c.4034-4265T>C (n.4034-4265T>C)
c.3291T>C (p.Asp1097=)
c.5205T>C (p.Asp1735=)
c.3488-4265T>C (n.3488-4265T>C)
c.4932T>C (p.Asp1644=)
c.4386T>C (p.Asp1462=)
c.4580-4265T>C (n.4580-4265T>C)
c.4113T>C (p.Asp1371=)
c.3761-4265T>C (n.3761-4265T>C)
c.3564T>C (p.Asp1188=)
c.5478T>C (p.Asp1826=)
c.5202T>C (p.Asp1734=)
 gnomAD v4
9g.115046606A>TCA374631241TNCc.318-4265T>A
c.3215-4265T>A (n.3215-4265T>A)
c.3840T>A (p.Asp1280Glu)
c.1872T>A (p.Asp624Glu)
c.528T>A (p.Asp176Glu)
c.3887T>A
c.4929T>A (p.Asp1643Glu)
c.4383T>A (p.Asp1461Glu)
c.4307-4265T>A (n.4307-4265T>A)
n.247T>A
n.253-4265T>A
n.40-4265T>A
c.616T>A
c.4656T>A (p.Asp1552Glu)
c.4034-4265T>A (n.4034-4265T>A)
c.3291T>A (p.Asp1097Glu)
c.5205T>A (p.Asp1735Glu)
c.3488-4265T>A (n.3488-4265T>A)
c.4932T>A (p.Asp1644Glu)
c.4386T>A (p.Asp1462Glu)
c.4580-4265T>A (n.4580-4265T>A)
c.4113T>A (p.Asp1371Glu)
c.3761-4265T>A (n.3761-4265T>A)
c.3564T>A (p.Asp1188Glu)
c.5478T>A (p.Asp1826Glu)
c.5202T>A (p.Asp1734Glu)
9g.115046607T>ACA374631243TNCc.318-4266A>T
c.3215-4266A>T (n.3215-4266A>T)
c.3839A>T (p.Asp1280Val)
c.1871A>T (p.Asp624Val)
c.527A>T (p.Asp176Val)
c.3886A>T
c.4928A>T (p.Asp1643Val)
c.4382A>T (p.Asp1461Val)
c.4307-4266A>T (n.4307-4266A>T)
n.246A>T
n.253-4266A>T
n.40-4266A>T
c.615A>T
c.4655A>T (p.Asp1552Val)
c.4034-4266A>T (n.4034-4266A>T)
c.3290A>T (p.Asp1097Val)
c.5204A>T (p.Asp1735Val)
c.3488-4266A>T (n.3488-4266A>T)
c.4931A>T (p.Asp1644Val)
c.4385A>T (p.Asp1462Val)
c.4580-4266A>T (n.4580-4266A>T)
c.4112A>T (p.Asp1371Val)
c.3761-4266A>T (n.3761-4266A>T)
c.3563A>T (p.Asp1188Val)
c.5477A>T (p.Asp1826Val)
c.5201A>T (p.Asp1734Val)
9g.115046607T>CCA374631244TNCc.318-4266A>G
c.3215-4266A>G (n.3215-4266A>G)
c.3839A>G (p.Asp1280Gly)
c.1871A>G (p.Asp624Gly)
c.527A>G (p.Asp176Gly)
c.3886A>G
c.4928A>G (p.Asp1643Gly)
c.4382A>G (p.Asp1461Gly)
c.4307-4266A>G (n.4307-4266A>G)
n.246A>G
n.253-4266A>G
n.40-4266A>G
c.615A>G
c.4655A>G (p.Asp1552Gly)
c.4034-4266A>G (n.4034-4266A>G)
c.3290A>G (p.Asp1097Gly)
c.5204A>G (p.Asp1735Gly)
c.3488-4266A>G (n.3488-4266A>G)
c.4931A>G (p.Asp1644Gly)
c.4385A>G (p.Asp1462Gly)
c.4580-4266A>G (n.4580-4266A>G)
c.4112A>G (p.Asp1371Gly)
c.3761-4266A>G (n.3761-4266A>G)
c.3563A>G (p.Asp1188Gly)
c.5477A>G (p.Asp1826Gly)
c.5201A>G (p.Asp1734Gly)
9g.115046607T>GCA374631245TNCc.318-4266A>C
c.3215-4266A>C (n.3215-4266A>C)
c.3839A>C (p.Asp1280Ala)
c.1871A>C (p.Asp624Ala)
c.527A>C (p.Asp176Ala)
c.3886A>C
c.4928A>C (p.Asp1643Ala)
c.4382A>C (p.Asp1461Ala)
c.4307-4266A>C (n.4307-4266A>C)
n.246A>C
n.253-4266A>C
n.40-4266A>C
c.615A>C
c.4655A>C (p.Asp1552Ala)
c.4034-4266A>C (n.4034-4266A>C)
c.3290A>C (p.Asp1097Ala)
c.5204A>C (p.Asp1735Ala)
c.3488-4266A>C (n.3488-4266A>C)
c.4931A>C (p.Asp1644Ala)
c.4385A>C (p.Asp1462Ala)
c.4580-4266A>C (n.4580-4266A>C)
c.4112A>C (p.Asp1371Ala)
c.3761-4266A>C (n.3761-4266A>C)
c.3563A>C (p.Asp1188Ala)
c.5477A>C (p.Asp1826Ala)
c.5201A>C (p.Asp1734Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.115046607T=CA1874118938TNCc.318-4266A=
c.3215-4266A= (n.3215-4266A=)
c.3839A= (p.Asp1280=)
c.1871A= (p.Asp624=)
c.527A= (p.Asp176=)
c.3886A=
c.4928A= (p.Asp1643=)
c.4382A= (p.Asp1461=)
c.4307-4266A= (n.4307-4266A=)
n.246A=
n.253-4266A=
n.40-4266A=
c.615A=
c.4655A= (p.Asp1552=)
c.4034-4266A= (n.4034-4266A=)
c.3290A= (p.Asp1097=)
c.5204A= (p.Asp1735=)
c.3488-4266A= (n.3488-4266A=)
c.4931A= (p.Asp1644=)
c.4385A= (p.Asp1462=)
c.4580-4266A= (n.4580-4266A=)
c.4112A= (p.Asp1371=)
c.3761-4266A= (n.3761-4266A=)
c.3563A= (p.Asp1188=)
c.5477A= (p.Asp1826=)
c.5201A= (p.Asp1734=)
9g.115046608C>ACA374631246TNCc.318-4267G>T
c.3215-4267G>T (n.3215-4267G>T)
c.3838G>T (p.Asp1280Tyr)
c.1870G>T (p.Asp624Tyr)
c.526G>T (p.Asp176Tyr)
c.3885G>T
c.4927G>T (p.Asp1643Tyr)
c.4381G>T (p.Asp1461Tyr)
c.4307-4267G>T (n.4307-4267G>T)
n.245G>T
n.253-4267G>T
n.40-4267G>T
c.614G>T
c.4654G>T (p.Asp1552Tyr)
c.4034-4267G>T (n.4034-4267G>T)
c.3289G>T (p.Asp1097Tyr)
c.5203G>T (p.Asp1735Tyr)
c.3488-4267G>T (n.3488-4267G>T)
c.4930G>T (p.Asp1644Tyr)
c.4384G>T (p.Asp1462Tyr)
c.4580-4267G>T (n.4580-4267G>T)
c.4111G>T (p.Asp1371Tyr)
c.3761-4267G>T (n.3761-4267G>T)
c.3562G>T (p.Asp1188Tyr)
c.5476G>T (p.Asp1826Tyr)
c.5200G>T (p.Asp1734Tyr)
9g.115046608C=CA1874118939TNCc.318-4267G=
c.3215-4267G= (n.3215-4267G=)
c.3838G= (p.Asp1280=)
c.1870G= (p.Asp624=)
c.526G= (p.Asp176=)
c.3885G=
c.4927G= (p.Asp1643=)
c.4381G= (p.Asp1461=)
c.4307-4267G= (n.4307-4267G=)
n.245G=
n.253-4267G=
n.40-4267G=
c.614G=
c.4654G= (p.Asp1552=)
c.4034-4267G= (n.4034-4267G=)
c.3289G= (p.Asp1097=)
c.5203G= (p.Asp1735=)
c.3488-4267G= (n.3488-4267G=)
c.4930G= (p.Asp1644=)
c.4384G= (p.Asp1462=)
c.4580-4267G= (n.4580-4267G=)
c.4111G= (p.Asp1371=)
c.3761-4267G= (n.3761-4267G=)
c.3562G= (p.Asp1188=)
c.5476G= (p.Asp1826=)
c.5200G= (p.Asp1734=)
9g.115046608C>GCA374631248TNCc.318-4267G>C
c.3215-4267G>C (n.3215-4267G>C)
c.3838G>C (p.Asp1280His)
c.1870G>C (p.Asp624His)
c.526G>C (p.Asp176His)
c.3885G>C
c.4927G>C (p.Asp1643His)
c.4381G>C (p.Asp1461His)
c.4307-4267G>C (n.4307-4267G>C)
n.245G>C
n.253-4267G>C
n.40-4267G>C
c.614G>C
c.4654G>C (p.Asp1552His)
c.4034-4267G>C (n.4034-4267G>C)
c.3289G>C (p.Asp1097His)
c.5203G>C (p.Asp1735His)
c.3488-4267G>C (n.3488-4267G>C)
c.4930G>C (p.Asp1644His)
c.4384G>C (p.Asp1462His)
c.4580-4267G>C (n.4580-4267G>C)
c.4111G>C (p.Asp1371His)
c.3761-4267G>C (n.3761-4267G>C)
c.3562G>C (p.Asp1188His)
c.5476G>C (p.Asp1826His)
c.5200G>C (p.Asp1734His)
9g.115046608C>TCA5207787TNCc.318-4267G>A
c.3215-4267G>A (n.3215-4267G>A)
c.3838G>A (p.Asp1280Asn)
c.1870G>A (p.Asp624Asn)
c.526G>A (p.Asp176Asn)
c.3885G>A
c.4927G>A (p.Asp1643Asn)
c.4381G>A (p.Asp1461Asn)
c.4307-4267G>A (n.4307-4267G>A)
n.245G>A
n.253-4267G>A
n.40-4267G>A
c.614G>A
c.4654G>A (p.Asp1552Asn)
c.4034-4267G>A (n.4034-4267G>A)
c.3289G>A (p.Asp1097Asn)
c.5203G>A (p.Asp1735Asn)
c.3488-4267G>A (n.3488-4267G>A)
c.4930G>A (p.Asp1644Asn)
c.4384G>A (p.Asp1462Asn)
c.4580-4267G>A (n.4580-4267G>A)
c.4111G>A (p.Asp1371Asn)
c.3761-4267G>A (n.3761-4267G>A)
c.3562G>A (p.Asp1188Asn)
c.5476G>A (p.Asp1826Asn)
c.5200G>A (p.Asp1734Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.115046609A>CCA466912531TNCc.318-4268T>G
c.3215-4268T>G (n.3215-4268T>G)
c.3837T>G (p.Ala1279=)
c.1869T>G (p.Ala623=)
c.525T>G (p.Ala175=)
c.3884T>G
c.4926T>G (p.Ala1642=)
c.4380T>G (p.Ala1460=)
c.4307-4268T>G (n.4307-4268T>G)
n.244T>G
n.253-4268T>G
n.40-4268T>G
c.613T>G
c.4653T>G (p.Ala1551=)
c.4034-4268T>G (n.4034-4268T>G)
c.3288T>G (p.Ala1096=)
c.5202T>G (p.Ala1734=)
c.3488-4268T>G (n.3488-4268T>G)
c.4929T>G (p.Ala1643=)
c.4383T>G (p.Ala1461=)
c.4580-4268T>G (n.4580-4268T>G)
c.4110T>G (p.Ala1370=)
c.3761-4268T>G (n.3761-4268T>G)
c.3561T>G (p.Ala1187=)
c.5475T>G (p.Ala1825=)
c.5199T>G (p.Ala1733=)
9g.115046609A>GCA466912532TNCc.318-4268T>C
c.3215-4268T>C (n.3215-4268T>C)
c.3837T>C (p.Ala1279=)
c.1869T>C (p.Ala623=)
c.525T>C (p.Ala175=)
c.3884T>C
c.4926T>C (p.Ala1642=)
c.4380T>C (p.Ala1460=)
c.4307-4268T>C (n.4307-4268T>C)
n.244T>C
n.253-4268T>C
n.40-4268T>C
c.613T>C
c.4653T>C (p.Ala1551=)
c.4034-4268T>C (n.4034-4268T>C)
c.3288T>C (p.Ala1096=)
c.5202T>C (p.Ala1734=)
c.3488-4268T>C (n.3488-4268T>C)
c.4929T>C (p.Ala1643=)
c.4383T>C (p.Ala1461=)
c.4580-4268T>C (n.4580-4268T>C)
c.4110T>C (p.Ala1370=)
c.3761-4268T>C (n.3761-4268T>C)
c.3561T>C (p.Ala1187=)
c.5475T>C (p.Ala1825=)
c.5199T>C (p.Ala1733=)
9g.115046609A>TCA466912533TNCc.318-4268T>A
c.3215-4268T>A (n.3215-4268T>A)
c.3837T>A (p.Ala1279=)
c.1869T>A (p.Ala623=)
c.525T>A (p.Ala175=)
c.3884T>A
c.4926T>A (p.Ala1642=)
c.4380T>A (p.Ala1460=)
c.4307-4268T>A (n.4307-4268T>A)
n.244T>A
n.253-4268T>A
n.40-4268T>A
c.613T>A
c.4653T>A (p.Ala1551=)
c.4034-4268T>A (n.4034-4268T>A)
c.3288T>A (p.Ala1096=)
c.5202T>A (p.Ala1734=)
c.3488-4268T>A (n.3488-4268T>A)
c.4929T>A (p.Ala1643=)
c.4383T>A (p.Ala1461=)
c.4580-4268T>A (n.4580-4268T>A)
c.4110T>A (p.Ala1370=)
c.3761-4268T>A (n.3761-4268T>A)
c.3561T>A (p.Ala1187=)
c.5475T>A (p.Ala1825=)
c.5199T>A (p.Ala1733=)
9g.115046610G>ACA374631254TNCc.318-4269C>T
c.3215-4269C>T (n.3215-4269C>T)
c.3836C>T (p.Ala1279Val)
c.1868C>T (p.Ala623Val)
c.524C>T (p.Ala175Val)
c.3883C>T
c.4925C>T (p.Ala1642Val)
c.4379C>T (p.Ala1460Val)
c.4307-4269C>T (n.4307-4269C>T)
n.243C>T
n.253-4269C>T
n.40-4269C>T
c.612C>T
c.4652C>T (p.Ala1551Val)
c.4034-4269C>T (n.4034-4269C>T)
c.3287C>T (p.Ala1096Val)
c.5201C>T (p.Ala1734Val)
c.3488-4269C>T (n.3488-4269C>T)
c.4928C>T (p.Ala1643Val)
c.4382C>T (p.Ala1461Val)
c.4580-4269C>T (n.4580-4269C>T)
c.4109C>T (p.Ala1370Val)
c.3761-4269C>T (n.3761-4269C>T)
c.3560C>T (p.Ala1187Val)
c.5474C>T (p.Ala1825Val)
c.5198C>T (p.Ala1733Val)
9g.115046610G>CCA374631252TNCc.318-4269C>G
c.3215-4269C>G (n.3215-4269C>G)
c.3836C>G (p.Ala1279Gly)
c.1868C>G (p.Ala623Gly)
c.524C>G (p.Ala175Gly)
c.3883C>G
c.4925C>G (p.Ala1642Gly)
c.4379C>G (p.Ala1460Gly)
c.4307-4269C>G (n.4307-4269C>G)
n.243C>G
n.253-4269C>G
n.40-4269C>G
c.612C>G
c.4652C>G (p.Ala1551Gly)
c.4034-4269C>G (n.4034-4269C>G)
c.3287C>G (p.Ala1096Gly)
c.5201C>G (p.Ala1734Gly)
c.3488-4269C>G (n.3488-4269C>G)
c.4928C>G (p.Ala1643Gly)
c.4382C>G (p.Ala1461Gly)
c.4580-4269C>G (n.4580-4269C>G)
c.4109C>G (p.Ala1370Gly)
c.3761-4269C>G (n.3761-4269C>G)
c.3560C>G (p.Ala1187Gly)
c.5474C>G (p.Ala1825Gly)
c.5198C>G (p.Ala1733Gly)
9g.115046610G>TCA374631250TNCc.318-4269C>A
c.3215-4269C>A (n.3215-4269C>A)
c.3836C>A (p.Ala1279Asp)
c.1868C>A (p.Ala623Asp)
c.524C>A (p.Ala175Asp)
c.3883C>A
c.4925C>A (p.Ala1642Asp)
c.4379C>A (p.Ala1460Asp)
c.4307-4269C>A (n.4307-4269C>A)
n.243C>A
n.253-4269C>A
n.40-4269C>A
c.612C>A
c.4652C>A (p.Ala1551Asp)
c.4034-4269C>A (n.4034-4269C>A)
c.3287C>A (p.Ala1096Asp)
c.5201C>A (p.Ala1734Asp)
c.3488-4269C>A (n.3488-4269C>A)
c.4928C>A (p.Ala1643Asp)
c.4382C>A (p.Ala1461Asp)
c.4580-4269C>A (n.4580-4269C>A)
c.4109C>A (p.Ala1370Asp)
c.3761-4269C>A (n.3761-4269C>A)
c.3560C>A (p.Ala1187Asp)
c.5474C>A (p.Ala1825Asp)
c.5198C>A (p.Ala1733Asp)
9g.115046611C>ACA374631256TNCc.318-4270G>T
c.3215-4270G>T (n.3215-4270G>T)
c.3835G>T (p.Ala1279Ser)
c.1867G>T (p.Ala623Ser)
c.523G>T (p.Ala175Ser)
c.3882G>T
c.4924G>T (p.Ala1642Ser)
c.4378G>T (p.Ala1460Ser)
c.4307-4270G>T (n.4307-4270G>T)
n.242G>T
n.253-4270G>T
n.40-4270G>T
c.611G>T
c.4651G>T (p.Ala1551Ser)
c.4034-4270G>T (n.4034-4270G>T)
c.3286G>T (p.Ala1096Ser)
c.5200G>T (p.Ala1734Ser)
c.3488-4270G>T (n.3488-4270G>T)
c.4927G>T (p.Ala1643Ser)
c.4381G>T (p.Ala1461Ser)
c.4580-4270G>T (n.4580-4270G>T)
c.4108G>T (p.Ala1370Ser)
c.3761-4270G>T (n.3761-4270G>T)
c.3559G>T (p.Ala1187Ser)
c.5473G>T (p.Ala1825Ser)
c.5197G>T (p.Ala1733Ser)
9g.115046611C>GCA374631257TNCc.318-4270G>C
c.3215-4270G>C (n.3215-4270G>C)
c.3835G>C (p.Ala1279Pro)
c.1867G>C (p.Ala623Pro)
c.523G>C (p.Ala175Pro)
c.3882G>C
c.4924G>C (p.Ala1642Pro)
c.4378G>C (p.Ala1460Pro)
c.4307-4270G>C (n.4307-4270G>C)
n.242G>C
n.253-4270G>C
n.40-4270G>C
c.611G>C
c.4651G>C (p.Ala1551Pro)
c.4034-4270G>C (n.4034-4270G>C)
c.3286G>C (p.Ala1096Pro)
c.5200G>C (p.Ala1734Pro)
c.3488-4270G>C (n.3488-4270G>C)
c.4927G>C (p.Ala1643Pro)
c.4381G>C (p.Ala1461Pro)
c.4580-4270G>C (n.4580-4270G>C)
c.4108G>C (p.Ala1370Pro)
c.3761-4270G>C (n.3761-4270G>C)
c.3559G>C (p.Ala1187Pro)
c.5473G>C (p.Ala1825Pro)
c.5197G>C (p.Ala1733Pro)
9g.115046611C>TCA374631258TNCc.318-4270G>A
c.3215-4270G>A (n.3215-4270G>A)
c.3835G>A (p.Ala1279Thr)
c.1867G>A (p.Ala623Thr)
c.523G>A (p.Ala175Thr)
c.3882G>A
c.4924G>A (p.Ala1642Thr)
c.4378G>A (p.Ala1460Thr)
c.4307-4270G>A (n.4307-4270G>A)
n.242G>A
n.253-4270G>A
n.40-4270G>A
c.611G>A
c.4651G>A (p.Ala1551Thr)
c.4034-4270G>A (n.4034-4270G>A)
c.3286G>A (p.Ala1096Thr)
c.5200G>A (p.Ala1734Thr)
c.3488-4270G>A (n.3488-4270G>A)
c.4927G>A (p.Ala1643Thr)
c.4381G>A (p.Ala1461Thr)
c.4580-4270G>A (n.4580-4270G>A)
c.4108G>A (p.Ala1370Thr)
c.3761-4270G>A (n.3761-4270G>A)
c.3559G>A (p.Ala1187Thr)
c.5473G>A (p.Ala1825Thr)
c.5197G>A (p.Ala1733Thr)
9g.115046612T>ACA466912537TNCc.318-4271A>T
c.3215-4271A>T (n.3215-4271A>T)
c.3834A>T (p.Thr1278=)
c.1866A>T (p.Thr622=)
c.522A>T (p.Thr174=)
c.3881A>T
c.4923A>T (p.Thr1641=)
c.4377A>T (p.Thr1459=)
c.4307-4271A>T (n.4307-4271A>T)
n.241A>T
n.253-4271A>T
n.40-4271A>T
c.610A>T
c.4650A>T (p.Thr1550=)
c.4034-4271A>T (n.4034-4271A>T)
c.3285A>T (p.Thr1095=)
c.5199A>T (p.Thr1733=)
c.3488-4271A>T (n.3488-4271A>T)
c.4926A>T (p.Thr1642=)
c.4380A>T (p.Thr1460=)
c.4580-4271A>T (n.4580-4271A>T)
c.4107A>T (p.Thr1369=)
c.3761-4271A>T (n.3761-4271A>T)
c.3558A>T (p.Thr1186=)
c.5472A>T (p.Thr1824=)
c.5196A>T (p.Thr1732=)
9g.115046612T>CCA466912538TNCc.318-4271A>G
c.3215-4271A>G (n.3215-4271A>G)
c.3834A>G (p.Thr1278=)
c.1866A>G (p.Thr622=)
c.522A>G (p.Thr174=)
c.3881A>G
c.4923A>G (p.Thr1641=)
c.4377A>G (p.Thr1459=)
c.4307-4271A>G (n.4307-4271A>G)
n.241A>G
n.253-4271A>G
n.40-4271A>G
c.610A>G
c.4650A>G (p.Thr1550=)
c.4034-4271A>G (n.4034-4271A>G)
c.3285A>G (p.Thr1095=)
c.5199A>G (p.Thr1733=)
c.3488-4271A>G (n.3488-4271A>G)
c.4926A>G (p.Thr1642=)
c.4380A>G (p.Thr1460=)
c.4580-4271A>G (n.4580-4271A>G)
c.4107A>G (p.Thr1369=)
c.3761-4271A>G (n.3761-4271A>G)
c.3558A>G (p.Thr1186=)
c.5472A>G (p.Thr1824=)
c.5196A>G (p.Thr1732=)
9g.115046612T>GCA466912539TNCc.318-4271A>C
c.3215-4271A>C (n.3215-4271A>C)
c.3834A>C (p.Thr1278=)
c.1866A>C (p.Thr622=)
c.522A>C (p.Thr174=)
c.3881A>C
c.4923A>C (p.Thr1641=)
c.4377A>C (p.Thr1459=)
c.4307-4271A>C (n.4307-4271A>C)
n.241A>C
n.253-4271A>C
n.40-4271A>C
c.610A>C
c.4650A>C (p.Thr1550=)
c.4034-4271A>C (n.4034-4271A>C)
c.3285A>C (p.Thr1095=)
c.5199A>C (p.Thr1733=)
c.3488-4271A>C (n.3488-4271A>C)
c.4926A>C (p.Thr1642=)
c.4380A>C (p.Thr1460=)
c.4580-4271A>C (n.4580-4271A>C)
c.4107A>C (p.Thr1369=)
c.3761-4271A>C (n.3761-4271A>C)
c.3558A>C (p.Thr1186=)
c.5472A>C (p.Thr1824=)
c.5196A>C (p.Thr1732=)
9g.115046613G>ACA374631259TNCc.318-4272C>T
c.3215-4272C>T (n.3215-4272C>T)
c.3833C>T (p.Thr1278Ile)
c.1865C>T (p.Thr622Ile)
c.521C>T (p.Thr174Ile)
c.3880C>T
c.4922C>T (p.Thr1641Ile)
c.4376C>T (p.Thr1459Ile)
c.4307-4272C>T (n.4307-4272C>T)
n.240C>T
n.253-4272C>T
n.40-4272C>T
c.609C>T
c.4649C>T (p.Thr1550Ile)
c.4034-4272C>T (n.4034-4272C>T)
c.3284C>T (p.Thr1095Ile)
c.5198C>T (p.Thr1733Ile)
c.3488-4272C>T (n.3488-4272C>T)
c.4925C>T (p.Thr1642Ile)
c.4379C>T (p.Thr1460Ile)
c.4580-4272C>T (n.4580-4272C>T)
c.4106C>T (p.Thr1369Ile)
c.3761-4272C>T (n.3761-4272C>T)
c.3557C>T (p.Thr1186Ile)
c.5471C>T (p.Thr1824Ile)
c.5195C>T (p.Thr1732Ile)
 gnomAD v4
9g.115046613G>CCA374631261TNCc.318-4272C>G
c.3215-4272C>G (n.3215-4272C>G)
c.3833C>G (p.Thr1278Arg)
c.1865C>G (p.Thr622Arg)
c.521C>G (p.Thr174Arg)
c.3880C>G
c.4922C>G (p.Thr1641Arg)
c.4376C>G (p.Thr1459Arg)
c.4307-4272C>G (n.4307-4272C>G)
n.240C>G
n.253-4272C>G
n.40-4272C>G
c.609C>G
c.4649C>G (p.Thr1550Arg)
c.4034-4272C>G (n.4034-4272C>G)
c.3284C>G (p.Thr1095Arg)
c.5198C>G (p.Thr1733Arg)
c.3488-4272C>G (n.3488-4272C>G)
c.4925C>G (p.Thr1642Arg)
c.4379C>G (p.Thr1460Arg)
c.4580-4272C>G (n.4580-4272C>G)
c.4106C>G (p.Thr1369Arg)
c.3761-4272C>G (n.3761-4272C>G)
c.3557C>G (p.Thr1186Arg)
c.5471C>G (p.Thr1824Arg)
c.5195C>G (p.Thr1732Arg)
9g.115046613G>TCA374631263TNCc.318-4272C>A
c.3215-4272C>A (n.3215-4272C>A)
c.3833C>A (p.Thr1278Lys)
c.1865C>A (p.Thr622Lys)
c.521C>A (p.Thr174Lys)
c.3880C>A
c.4922C>A (p.Thr1641Lys)
c.4376C>A (p.Thr1459Lys)
c.4307-4272C>A (n.4307-4272C>A)
n.240C>A
n.253-4272C>A
n.40-4272C>A
c.609C>A
c.4649C>A (p.Thr1550Lys)
c.4034-4272C>A (n.4034-4272C>A)
c.3284C>A (p.Thr1095Lys)
c.5198C>A (p.Thr1733Lys)
c.3488-4272C>A (n.3488-4272C>A)
c.4925C>A (p.Thr1642Lys)
c.4379C>A (p.Thr1460Lys)
c.4580-4272C>A (n.4580-4272C>A)
c.4106C>A (p.Thr1369Lys)
c.3761-4272C>A (n.3761-4272C>A)
c.3557C>A (p.Thr1186Lys)
c.5471C>A (p.Thr1824Lys)
c.5195C>A (p.Thr1732Lys)
 COSMIC
9g.115046614T>ACA374631264TNCc.318-4273A>T
c.3215-4273A>T (n.3215-4273A>T)
c.3832A>T (p.Thr1278Ser)
c.1864A>T (p.Thr622Ser)
c.520A>T (p.Thr174Ser)
c.3879A>T
c.4921A>T (p.Thr1641Ser)
c.4375A>T (p.Thr1459Ser)
c.4307-4273A>T (n.4307-4273A>T)
n.239A>T
n.253-4273A>T
n.40-4273A>T
c.608A>T
c.4648A>T (p.Thr1550Ser)
c.4034-4273A>T (n.4034-4273A>T)
c.3283A>T (p.Thr1095Ser)
c.5197A>T (p.Thr1733Ser)
c.3488-4273A>T (n.3488-4273A>T)
c.4924A>T (p.Thr1642Ser)
c.4378A>T (p.Thr1460Ser)
c.4580-4273A>T (n.4580-4273A>T)
c.4105A>T (p.Thr1369Ser)
c.3761-4273A>T (n.3761-4273A>T)
c.3556A>T (p.Thr1186Ser)
c.5470A>T (p.Thr1824Ser)
c.5194A>T (p.Thr1732Ser)
9g.115046614T>CCA374631265TNCc.318-4273A>G
c.3215-4273A>G (n.3215-4273A>G)
c.3832A>G (p.Thr1278Ala)
c.1864A>G (p.Thr622Ala)
c.520A>G (p.Thr174Ala)
c.3879A>G
c.4921A>G (p.Thr1641Ala)
c.4375A>G (p.Thr1459Ala)
c.4307-4273A>G (n.4307-4273A>G)
n.239A>G
n.253-4273A>G
n.40-4273A>G
c.608A>G
c.4648A>G (p.Thr1550Ala)
c.4034-4273A>G (n.4034-4273A>G)
c.3283A>G (p.Thr1095Ala)
c.5197A>G (p.Thr1733Ala)
c.3488-4273A>G (n.3488-4273A>G)
c.4924A>G (p.Thr1642Ala)
c.4378A>G (p.Thr1460Ala)
c.4580-4273A>G (n.4580-4273A>G)
c.4105A>G (p.Thr1369Ala)
c.3761-4273A>G (n.3761-4273A>G)
c.3556A>G (p.Thr1186Ala)
c.5470A>G (p.Thr1824Ala)
c.5194A>G (p.Thr1732Ala)
 gnomAD v3 gnomAD v4
9g.115046614T>GCA374631267TNCc.318-4273A>C
c.3215-4273A>C (n.3215-4273A>C)
c.3832A>C (p.Thr1278Pro)
c.1864A>C (p.Thr622Pro)
c.520A>C (p.Thr174Pro)
c.3879A>C
c.4921A>C (p.Thr1641Pro)
c.4375A>C (p.Thr1459Pro)
c.4307-4273A>C (n.4307-4273A>C)
n.239A>C
n.253-4273A>C
n.40-4273A>C
c.608A>C
c.4648A>C (p.Thr1550Pro)
c.4034-4273A>C (n.4034-4273A>C)
c.3283A>C (p.Thr1095Pro)
c.5197A>C (p.Thr1733Pro)
c.3488-4273A>C (n.3488-4273A>C)
c.4924A>C (p.Thr1642Pro)
c.4378A>C (p.Thr1460Pro)
c.4580-4273A>C (n.4580-4273A>C)
c.4105A>C (p.Thr1369Pro)
c.3761-4273A>C (n.3761-4273A>C)
c.3556A>C (p.Thr1186Pro)
c.5470A>C (p.Thr1824Pro)
c.5194A>C (p.Thr1732Pro)
 gnomAD v4
9g.115046615C>ACA374631269TNCc.318-4274G>T
c.3215-4274G>T (n.3215-4274G>T)
c.3831G>T (p.Trp1277Cys)
c.1863G>T (p.Trp621Cys)
c.519G>T (p.Trp173Cys)
c.3878G>T
c.4920G>T (p.Trp1640Cys)
c.4374G>T (p.Trp1458Cys)
c.4307-4274G>T (n.4307-4274G>T)
n.238G>T
n.253-4274G>T
n.40-4274G>T
c.607G>T
c.4647G>T (p.Trp1549Cys)
c.4034-4274G>T (n.4034-4274G>T)
c.3282G>T (p.Trp1094Cys)
c.5196G>T (p.Trp1732Cys)
c.3488-4274G>T (n.3488-4274G>T)
c.4923G>T (p.Trp1641Cys)
c.4377G>T (p.Trp1459Cys)
c.4580-4274G>T (n.4580-4274G>T)
c.4104G>T (p.Trp1368Cys)
c.3761-4274G>T (n.3761-4274G>T)
c.3555G>T (p.Trp1185Cys)
c.5469G>T (p.Trp1823Cys)
c.5193G>T (p.Trp1731Cys)
9g.115046615C>GCA374631271TNCc.318-4274G>C
c.3215-4274G>C (n.3215-4274G>C)
c.3831G>C (p.Trp1277Cys)
c.1863G>C (p.Trp621Cys)
c.519G>C (p.Trp173Cys)
c.3878G>C
c.4920G>C (p.Trp1640Cys)
c.4374G>C (p.Trp1458Cys)
c.4307-4274G>C (n.4307-4274G>C)
n.238G>C
n.253-4274G>C
n.40-4274G>C
c.607G>C
c.4647G>C (p.Trp1549Cys)
c.4034-4274G>C (n.4034-4274G>C)
c.3282G>C (p.Trp1094Cys)
c.5196G>C (p.Trp1732Cys)
c.3488-4274G>C (n.3488-4274G>C)
c.4923G>C (p.Trp1641Cys)
c.4377G>C (p.Trp1459Cys)
c.4580-4274G>C (n.4580-4274G>C)
c.4104G>C (p.Trp1368Cys)
c.3761-4274G>C (n.3761-4274G>C)
c.3555G>C (p.Trp1185Cys)
c.5469G>C (p.Trp1823Cys)
c.5193G>C (p.Trp1731Cys)
9g.115046615C>TCA374631272TNCc.318-4274G>A
c.3215-4274G>A (n.3215-4274G>A)
c.3831G>A (p.Trp1277Ter)
c.1863G>A (p.Trp621Ter)
c.519G>A (p.Trp173Ter)
c.3878G>A
c.4920G>A (p.Trp1640Ter)
c.4374G>A (p.Trp1458Ter)
c.4307-4274G>A (n.4307-4274G>A)
n.238G>A
n.253-4274G>A
n.40-4274G>A
c.607G>A
c.4647G>A (p.Trp1549Ter)
c.4034-4274G>A (n.4034-4274G>A)
c.3282G>A (p.Trp1094Ter)
c.5196G>A (p.Trp1732Ter)
c.3488-4274G>A (n.3488-4274G>A)
c.4923G>A (p.Trp1641Ter)
c.4377G>A (p.Trp1459Ter)
c.4580-4274G>A (n.4580-4274G>A)
c.4104G>A (p.Trp1368Ter)
c.3761-4274G>A (n.3761-4274G>A)
c.3555G>A (p.Trp1185Ter)
c.5469G>A (p.Trp1823Ter)
c.5193G>A (p.Trp1731Ter)
 gnomAD v4
9g.115046616C>ACA374631278TNCc.318-4275G>T
c.3215-4275G>T (n.3215-4275G>T)
c.3830G>T (p.Trp1277Leu)
c.1862G>T (p.Trp621Leu)
c.518G>T (p.Trp173Leu)
c.3877G>T
c.4919G>T (p.Trp1640Leu)
c.4373G>T (p.Trp1458Leu)
c.4307-4275G>T (n.4307-4275G>T)
n.237G>T
n.253-4275G>T
n.40-4275G>T
c.606G>T
c.4646G>T (p.Trp1549Leu)
c.4034-4275G>T (n.4034-4275G>T)
c.3281G>T (p.Trp1094Leu)
c.5195G>T (p.Trp1732Leu)
c.3488-4275G>T (n.3488-4275G>T)
c.4922G>T (p.Trp1641Leu)
c.4376G>T (p.Trp1459Leu)
c.4580-4275G>T (n.4580-4275G>T)
c.4103G>T (p.Trp1368Leu)
c.3761-4275G>T (n.3761-4275G>T)
c.3554G>T (p.Trp1185Leu)
c.5468G>T (p.Trp1823Leu)
c.5192G>T (p.Trp1731Leu)
9g.115046616C=CA1874118940TNCc.318-4275G=
c.3215-4275G= (n.3215-4275G=)
c.3830G= (p.Trp1277=)
c.1862G= (p.Trp621=)
c.518G= (p.Trp173=)
c.3877G=
c.4919G= (p.Trp1640=)
c.4373G= (p.Trp1458=)
c.4307-4275G= (n.4307-4275G=)
n.237G=
n.253-4275G=
n.40-4275G=
c.606G=
c.4646G= (p.Trp1549=)
c.4034-4275G= (n.4034-4275G=)
c.3281G= (p.Trp1094=)
c.5195G= (p.Trp1732=)
c.3488-4275G= (n.3488-4275G=)
c.4922G= (p.Trp1641=)
c.4376G= (p.Trp1459=)
c.4580-4275G= (n.4580-4275G=)
c.4103G= (p.Trp1368=)
c.3761-4275G= (n.3761-4275G=)
c.3554G= (p.Trp1185=)
c.5468G= (p.Trp1823=)
c.5192G= (p.Trp1731=)
9g.115046616C>GCA374631276TNCc.318-4275G>C
c.3215-4275G>C (n.3215-4275G>C)
c.3830G>C (p.Trp1277Ser)
c.1862G>C (p.Trp621Ser)
c.518G>C (p.Trp173Ser)
c.3877G>C
c.4919G>C (p.Trp1640Ser)
c.4373G>C (p.Trp1458Ser)
c.4307-4275G>C (n.4307-4275G>C)
n.237G>C
n.253-4275G>C
n.40-4275G>C
c.606G>C
c.4646G>C (p.Trp1549Ser)
c.4034-4275G>C (n.4034-4275G>C)
c.3281G>C (p.Trp1094Ser)
c.5195G>C (p.Trp1732Ser)
c.3488-4275G>C (n.3488-4275G>C)
c.4922G>C (p.Trp1641Ser)
c.4376G>C (p.Trp1459Ser)
c.4580-4275G>C (n.4580-4275G>C)
c.4103G>C (p.Trp1368Ser)
c.3761-4275G>C (n.3761-4275G>C)
c.3554G>C (p.Trp1185Ser)
c.5468G>C (p.Trp1823Ser)
c.5192G>C (p.Trp1731Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.115046616C>TCA374631274TNCc.318-4275G>A
c.3215-4275G>A (n.3215-4275G>A)
c.3830G>A (p.Trp1277Ter)
c.1862G>A (p.Trp621Ter)
c.518G>A (p.Trp173Ter)
c.3877G>A
c.4919G>A (p.Trp1640Ter)
c.4373G>A (p.Trp1458Ter)
c.4307-4275G>A (n.4307-4275G>A)
n.237G>A
n.253-4275G>A
n.40-4275G>A
c.606G>A
c.4646G>A (p.Trp1549Ter)
c.4034-4275G>A (n.4034-4275G>A)
c.3281G>A (p.Trp1094Ter)
c.5195G>A (p.Trp1732Ter)
c.3488-4275G>A (n.3488-4275G>A)
c.4922G>A (p.Trp1641Ter)
c.4376G>A (p.Trp1459Ter)
c.4580-4275G>A (n.4580-4275G>A)
c.4103G>A (p.Trp1368Ter)
c.3761-4275G>A (n.3761-4275G>A)
c.3554G>A (p.Trp1185Ter)
c.5468G>A (p.Trp1823Ter)
c.5192G>A (p.Trp1731Ter)
 gnomAD v4
9g.115046617A=CA1874118941TNCc.318-4276T=
c.3215-4276T= (n.3215-4276T=)
c.3829T= (p.Trp1277=)
c.1861T= (p.Trp621=)
c.517T= (p.Trp173=)
c.3876T=
c.4918T= (p.Trp1640=)
c.4372T= (p.Trp1458=)
c.4307-4276T= (n.4307-4276T=)
n.236T=
n.253-4276T=
n.40-4276T=
c.605T=
c.4645T= (p.Trp1549=)
c.4034-4276T= (n.4034-4276T=)
c.3280T= (p.Trp1094=)
c.5194T= (p.Trp1732=)
c.3488-4276T= (n.3488-4276T=)
c.4921T= (p.Trp1641=)
c.4375T= (p.Trp1459=)
c.4580-4276T= (n.4580-4276T=)
c.4102T= (p.Trp1368=)
c.3761-4276T= (n.3761-4276T=)
c.3553T= (p.Trp1185=)
c.5467T= (p.Trp1823=)
c.5191T= (p.Trp1731=)
9g.115046617A>CCA374631280TNCc.318-4276T>G
c.3215-4276T>G (n.3215-4276T>G)
c.3829T>G (p.Trp1277Gly)
c.1861T>G (p.Trp621Gly)
c.517T>G (p.Trp173Gly)
c.3876T>G
c.4918T>G (p.Trp1640Gly)
c.4372T>G (p.Trp1458Gly)
c.4307-4276T>G (n.4307-4276T>G)
n.236T>G
n.253-4276T>G
n.40-4276T>G
c.605T>G
c.4645T>G (p.Trp1549Gly)
c.4034-4276T>G (n.4034-4276T>G)
c.3280T>G (p.Trp1094Gly)
c.5194T>G (p.Trp1732Gly)
c.3488-4276T>G (n.3488-4276T>G)
c.4921T>G (p.Trp1641Gly)
c.4375T>G (p.Trp1459Gly)
c.4580-4276T>G (n.4580-4276T>G)
c.4102T>G (p.Trp1368Gly)
c.3761-4276T>G (n.3761-4276T>G)
c.3553T>G (p.Trp1185Gly)
c.5467T>G (p.Trp1823Gly)
c.5191T>G (p.Trp1731Gly)
 dbSNP
9g.115046617A>GCA374631282TNCc.318-4276T>C
c.3215-4276T>C (n.3215-4276T>C)
c.3829T>C (p.Trp1277Arg)
c.1861T>C (p.Trp621Arg)
c.517T>C (p.Trp173Arg)
c.3876T>C
c.4918T>C (p.Trp1640Arg)
c.4372T>C (p.Trp1458Arg)
c.4307-4276T>C (n.4307-4276T>C)
n.236T>C
n.253-4276T>C
n.40-4276T>C
c.605T>C
c.4645T>C (p.Trp1549Arg)
c.4034-4276T>C (n.4034-4276T>C)
c.3280T>C (p.Trp1094Arg)
c.5194T>C (p.Trp1732Arg)
c.3488-4276T>C (n.3488-4276T>C)
c.4921T>C (p.Trp1641Arg)
c.4375T>C (p.Trp1459Arg)
c.4580-4276T>C (n.4580-4276T>C)
c.4102T>C (p.Trp1368Arg)
c.3761-4276T>C (n.3761-4276T>C)
c.3553T>C (p.Trp1185Arg)
c.5467T>C (p.Trp1823Arg)
c.5191T>C (p.Trp1731Arg)
9g.115046617A>TCA374631283TNCc.318-4276T>A
c.3215-4276T>A (n.3215-4276T>A)
c.3829T>A (p.Trp1277Arg)
c.1861T>A (p.Trp621Arg)
c.517T>A (p.Trp173Arg)
c.3876T>A
c.4918T>A (p.Trp1640Arg)
c.4372T>A (p.Trp1458Arg)
c.4307-4276T>A (n.4307-4276T>A)
n.236T>A
n.253-4276T>A
n.40-4276T>A
c.605T>A
c.4645T>A (p.Trp1549Arg)
c.4034-4276T>A (n.4034-4276T>A)
c.3280T>A (p.Trp1094Arg)
c.5194T>A (p.Trp1732Arg)
c.3488-4276T>A (n.3488-4276T>A)
c.4921T>A (p.Trp1641Arg)
c.4375T>A (p.Trp1459Arg)
c.4580-4276T>A (n.4580-4276T>A)
c.4102T>A (p.Trp1368Arg)
c.3761-4276T>A (n.3761-4276T>A)
c.3553T>A (p.Trp1185Arg)
c.5467T>A (p.Trp1823Arg)
c.5191T>A (p.Trp1731Arg)
9g.115046618G>ACA466912545TNCc.318-4277C>T
c.3215-4277C>T (n.3215-4277C>T)
c.3828C>T (p.Ser1276=)
c.1860C>T (p.Ser620=)
c.516C>T (p.Ser172=)
c.3875C>T
c.4917C>T (p.Ser1639=)
c.4371C>T (p.Ser1457=)
c.4307-4277C>T (n.4307-4277C>T)
n.235C>T
n.253-4277C>T
n.40-4277C>T
c.604C>T
c.4644C>T (p.Ser1548=)
c.4034-4277C>T (n.4034-4277C>T)
c.3279C>T (p.Ser1093=)
c.5193C>T (p.Ser1731=)
c.3488-4277C>T (n.3488-4277C>T)
c.4920C>T (p.Ser1640=)
c.4374C>T (p.Ser1458=)
c.4580-4277C>T (n.4580-4277C>T)
c.4101C>T (p.Ser1367=)
c.3761-4277C>T (n.3761-4277C>T)
c.3552C>T (p.Ser1184=)
c.5466C>T (p.Ser1822=)
c.5190C>T (p.Ser1730=)
9g.115046618G>CCA466912546TNCc.318-4277C>G
c.3215-4277C>G (n.3215-4277C>G)
c.3828C>G (p.Ser1276=)
c.1860C>G (p.Ser620=)
c.516C>G (p.Ser172=)
c.3875C>G
c.4917C>G (p.Ser1639=)
c.4371C>G (p.Ser1457=)
c.4307-4277C>G (n.4307-4277C>G)
n.235C>G
n.253-4277C>G
n.40-4277C>G
c.604C>G
c.4644C>G (p.Ser1548=)
c.4034-4277C>G (n.4034-4277C>G)
c.3279C>G (p.Ser1093=)
c.5193C>G (p.Ser1731=)
c.3488-4277C>G (n.3488-4277C>G)
c.4920C>G (p.Ser1640=)
c.4374C>G (p.Ser1458=)
c.4580-4277C>G (n.4580-4277C>G)
c.4101C>G (p.Ser1367=)
c.3761-4277C>G (n.3761-4277C>G)
c.3552C>G (p.Ser1184=)
c.5466C>G (p.Ser1822=)
c.5190C>G (p.Ser1730=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046618G=CA1874118942TNCc.318-4277C=
c.3215-4277C= (n.3215-4277C=)
c.3828C= (p.Ser1276=)
c.1860C= (p.Ser620=)
c.516C= (p.Ser172=)
c.3875C=
c.4917C= (p.Ser1639=)
c.4371C= (p.Ser1457=)
c.4307-4277C= (n.4307-4277C=)
n.235C=
n.253-4277C=
n.40-4277C=
c.604C=
c.4644C= (p.Ser1548=)
c.4034-4277C= (n.4034-4277C=)
c.3279C= (p.Ser1093=)
c.5193C= (p.Ser1731=)
c.3488-4277C= (n.3488-4277C=)
c.4920C= (p.Ser1640=)
c.4374C= (p.Ser1458=)
c.4580-4277C= (n.4580-4277C=)
c.4101C= (p.Ser1367=)
c.3761-4277C= (n.3761-4277C=)
c.3552C= (p.Ser1184=)
c.5466C= (p.Ser1822=)
c.5190C= (p.Ser1730=)
9g.115046618G>TCA466912547TNCc.318-4277C>A
c.3215-4277C>A (n.3215-4277C>A)
c.3828C>A (p.Ser1276=)
c.1860C>A (p.Ser620=)
c.516C>A (p.Ser172=)
c.3875C>A
c.4917C>A (p.Ser1639=)
c.4371C>A (p.Ser1457=)
c.4307-4277C>A (n.4307-4277C>A)
n.235C>A
n.253-4277C>A
n.40-4277C>A
c.604C>A
c.4644C>A (p.Ser1548=)
c.4034-4277C>A (n.4034-4277C>A)
c.3279C>A (p.Ser1093=)
c.5193C>A (p.Ser1731=)
c.3488-4277C>A (n.3488-4277C>A)
c.4920C>A (p.Ser1640=)
c.4374C>A (p.Ser1458=)
c.4580-4277C>A (n.4580-4277C>A)
c.4101C>A (p.Ser1367=)
c.3761-4277C>A (n.3761-4277C>A)
c.3552C>A (p.Ser1184=)
c.5466C>A (p.Ser1822=)
c.5190C>A (p.Ser1730=)
 dbSNP
9g.115046619G>ACA374631285TNCc.318-4278C>T
c.3215-4278C>T (n.3215-4278C>T)
c.3827C>T (p.Ser1276Phe)
c.1859C>T (p.Ser620Phe)
c.515C>T (p.Ser172Phe)
c.3874C>T
c.4916C>T (p.Ser1639Phe)
c.4370C>T (p.Ser1457Phe)
c.4307-4278C>T (n.4307-4278C>T)
n.234C>T
n.253-4278C>T
n.40-4278C>T
c.603C>T
c.4643C>T (p.Ser1548Phe)
c.4034-4278C>T (n.4034-4278C>T)
c.3278C>T (p.Ser1093Phe)
c.5192C>T (p.Ser1731Phe)
c.3488-4278C>T (n.3488-4278C>T)
c.4919C>T (p.Ser1640Phe)
c.4373C>T (p.Ser1458Phe)
c.4580-4278C>T (n.4580-4278C>T)
c.4100C>T (p.Ser1367Phe)
c.3761-4278C>T (n.3761-4278C>T)
c.3551C>T (p.Ser1184Phe)
c.5465C>T (p.Ser1822Phe)
c.5189C>T (p.Ser1730Phe)
 gnomAD v4
9g.115046619G>CCA374631286TNCc.318-4278C>G
c.3215-4278C>G (n.3215-4278C>G)
c.3827C>G (p.Ser1276Cys)
c.1859C>G (p.Ser620Cys)
c.515C>G (p.Ser172Cys)
c.3874C>G
c.4916C>G (p.Ser1639Cys)
c.4370C>G (p.Ser1457Cys)
c.4307-4278C>G (n.4307-4278C>G)
n.234C>G
n.253-4278C>G
n.40-4278C>G
c.603C>G
c.4643C>G (p.Ser1548Cys)
c.4034-4278C>G (n.4034-4278C>G)
c.3278C>G (p.Ser1093Cys)
c.5192C>G (p.Ser1731Cys)
c.3488-4278C>G (n.3488-4278C>G)
c.4919C>G (p.Ser1640Cys)
c.4373C>G (p.Ser1458Cys)
c.4580-4278C>G (n.4580-4278C>G)
c.4100C>G (p.Ser1367Cys)
c.3761-4278C>G (n.3761-4278C>G)
c.3551C>G (p.Ser1184Cys)
c.5465C>G (p.Ser1822Cys)
c.5189C>G (p.Ser1730Cys)
9g.115046619G>TCA374631288TNCc.318-4278C>A
c.3215-4278C>A (n.3215-4278C>A)
c.3827C>A (p.Ser1276Tyr)
c.1859C>A (p.Ser620Tyr)
c.515C>A (p.Ser172Tyr)
c.3874C>A
c.4916C>A (p.Ser1639Tyr)
c.4370C>A (p.Ser1457Tyr)
c.4307-4278C>A (n.4307-4278C>A)
n.234C>A
n.253-4278C>A
n.40-4278C>A
c.603C>A
c.4643C>A (p.Ser1548Tyr)
c.4034-4278C>A (n.4034-4278C>A)
c.3278C>A (p.Ser1093Tyr)
c.5192C>A (p.Ser1731Tyr)
c.3488-4278C>A (n.3488-4278C>A)
c.4919C>A (p.Ser1640Tyr)
c.4373C>A (p.Ser1458Tyr)
c.4580-4278C>A (n.4580-4278C>A)
c.4100C>A (p.Ser1367Tyr)
c.3761-4278C>A (n.3761-4278C>A)
c.3551C>A (p.Ser1184Tyr)
c.5465C>A (p.Ser1822Tyr)
c.5189C>A (p.Ser1730Tyr)
9g.115046620A=CA1874118943TNCc.318-4279T=
c.3215-4279T= (n.3215-4279T=)
c.3826T= (p.Ser1276=)
c.1858T= (p.Ser620=)
c.514T= (p.Ser172=)
c.3873T=
c.4915T= (p.Ser1639=)
c.4369T= (p.Ser1457=)
c.4307-4279T= (n.4307-4279T=)
n.233T=
n.253-4279T=
n.40-4279T=
c.602T=
c.4642T= (p.Ser1548=)
c.4034-4279T= (n.4034-4279T=)
c.3277T= (p.Ser1093=)
c.5191T= (p.Ser1731=)
c.3488-4279T= (n.3488-4279T=)
c.4918T= (p.Ser1640=)
c.4372T= (p.Ser1458=)
c.4580-4279T= (n.4580-4279T=)
c.4099T= (p.Ser1367=)
c.3761-4279T= (n.3761-4279T=)
c.3550T= (p.Ser1184=)
c.5464T= (p.Ser1822=)
c.5188T= (p.Ser1730=)
9g.115046620A>CCA374631290TNCc.318-4279T>G
c.3215-4279T>G (n.3215-4279T>G)
c.3826T>G (p.Ser1276Ala)
c.1858T>G (p.Ser620Ala)
c.514T>G (p.Ser172Ala)
c.3873T>G
c.4915T>G (p.Ser1639Ala)
c.4369T>G (p.Ser1457Ala)
c.4307-4279T>G (n.4307-4279T>G)
n.233T>G
n.253-4279T>G
n.40-4279T>G
c.602T>G
c.4642T>G (p.Ser1548Ala)
c.4034-4279T>G (n.4034-4279T>G)
c.3277T>G (p.Ser1093Ala)
c.5191T>G (p.Ser1731Ala)
c.3488-4279T>G (n.3488-4279T>G)
c.4918T>G (p.Ser1640Ala)
c.4372T>G (p.Ser1458Ala)
c.4580-4279T>G (n.4580-4279T>G)
c.4099T>G (p.Ser1367Ala)
c.3761-4279T>G (n.3761-4279T>G)
c.3550T>G (p.Ser1184Ala)
c.5464T>G (p.Ser1822Ala)
c.5188T>G (p.Ser1730Ala)
9g.115046620A>GCA5207788TNCc.318-4279T>C
c.3215-4279T>C (n.3215-4279T>C)
c.3826T>C (p.Ser1276Pro)
c.1858T>C (p.Ser620Pro)
c.514T>C (p.Ser172Pro)
c.3873T>C
c.4915T>C (p.Ser1639Pro)
c.4369T>C (p.Ser1457Pro)
c.4307-4279T>C (n.4307-4279T>C)
n.233T>C
n.253-4279T>C
n.40-4279T>C
c.602T>C
c.4642T>C (p.Ser1548Pro)
c.4034-4279T>C (n.4034-4279T>C)
c.3277T>C (p.Ser1093Pro)
c.5191T>C (p.Ser1731Pro)
c.3488-4279T>C (n.3488-4279T>C)
c.4918T>C (p.Ser1640Pro)
c.4372T>C (p.Ser1458Pro)
c.4580-4279T>C (n.4580-4279T>C)
c.4099T>C (p.Ser1367Pro)
c.3761-4279T>C (n.3761-4279T>C)
c.3550T>C (p.Ser1184Pro)
c.5464T>C (p.Ser1822Pro)
c.5188T>C (p.Ser1730Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046620A>TCA374631292TNCc.318-4279T>A
c.3215-4279T>A (n.3215-4279T>A)
c.3826T>A (p.Ser1276Thr)
c.1858T>A (p.Ser620Thr)
c.514T>A (p.Ser172Thr)
c.3873T>A
c.4915T>A (p.Ser1639Thr)
c.4369T>A (p.Ser1457Thr)
c.4307-4279T>A (n.4307-4279T>A)
n.233T>A
n.253-4279T>A
n.40-4279T>A
c.602T>A
c.4642T>A (p.Ser1548Thr)
c.4034-4279T>A (n.4034-4279T>A)
c.3277T>A (p.Ser1093Thr)
c.5191T>A (p.Ser1731Thr)
c.3488-4279T>A (n.3488-4279T>A)
c.4918T>A (p.Ser1640Thr)
c.4372T>A (p.Ser1458Thr)
c.4580-4279T>A (n.4580-4279T>A)
c.4099T>A (p.Ser1367Thr)
c.3761-4279T>A (n.3761-4279T>A)
c.3550T>A (p.Ser1184Thr)
c.5464T>A (p.Ser1822Thr)
c.5188T>A (p.Ser1730Thr)
9g.115046621C>ACA466912550TNCc.318-4280G>T
c.3215-4280G>T (n.3215-4280G>T)
c.3825G>T (p.Leu1275=)
c.1857G>T (p.Leu619=)
c.513G>T (p.Leu171=)
c.3872G>T
c.4914G>T (p.Leu1638=)
c.4368G>T (p.Leu1456=)
c.4307-4280G>T (n.4307-4280G>T)
n.232G>T
n.253-4280G>T
n.40-4280G>T
c.601G>T
c.4641G>T (p.Leu1547=)
c.4034-4280G>T (n.4034-4280G>T)
c.3276G>T (p.Leu1092=)
c.5190G>T (p.Leu1730=)
c.3488-4280G>T (n.3488-4280G>T)
c.4917G>T (p.Leu1639=)
c.4371G>T (p.Leu1457=)
c.4580-4280G>T (n.4580-4280G>T)
c.4098G>T (p.Leu1366=)
c.3761-4280G>T (n.3761-4280G>T)
c.3549G>T (p.Leu1183=)
c.5463G>T (p.Leu1821=)
c.5187G>T (p.Leu1729=)
9g.115046621C=CA1874118944TNCc.318-4280G=
c.3215-4280G= (n.3215-4280G=)
c.3825G= (p.Leu1275=)
c.1857G= (p.Leu619=)
c.513G= (p.Leu171=)
c.3872G=
c.4914G= (p.Leu1638=)
c.4368G= (p.Leu1456=)
c.4307-4280G= (n.4307-4280G=)
n.232G=
n.253-4280G=
n.40-4280G=
c.601G=
c.4641G= (p.Leu1547=)
c.4034-4280G= (n.4034-4280G=)
c.3276G= (p.Leu1092=)
c.5190G= (p.Leu1730=)
c.3488-4280G= (n.3488-4280G=)
c.4917G= (p.Leu1639=)
c.4371G= (p.Leu1457=)
c.4580-4280G= (n.4580-4280G=)
c.4098G= (p.Leu1366=)
c.3761-4280G= (n.3761-4280G=)
c.3549G= (p.Leu1183=)
c.5463G= (p.Leu1821=)
c.5187G= (p.Leu1729=)
9g.115046621C>GCA466912551TNCc.318-4280G>C
c.3215-4280G>C (n.3215-4280G>C)
c.3825G>C (p.Leu1275=)
c.1857G>C (p.Leu619=)
c.513G>C (p.Leu171=)
c.3872G>C
c.4914G>C (p.Leu1638=)
c.4368G>C (p.Leu1456=)
c.4307-4280G>C (n.4307-4280G>C)
n.232G>C
n.253-4280G>C
n.40-4280G>C
c.601G>C
c.4641G>C (p.Leu1547=)
c.4034-4280G>C (n.4034-4280G>C)
c.3276G>C (p.Leu1092=)
c.5190G>C (p.Leu1730=)
c.3488-4280G>C (n.3488-4280G>C)
c.4917G>C (p.Leu1639=)
c.4371G>C (p.Leu1457=)
c.4580-4280G>C (n.4580-4280G>C)
c.4098G>C (p.Leu1366=)
c.3761-4280G>C (n.3761-4280G>C)
c.3549G>C (p.Leu1183=)
c.5463G>C (p.Leu1821=)
c.5187G>C (p.Leu1729=)
9g.115046621C>TCA5207789TNCc.318-4280G>A
c.3215-4280G>A (n.3215-4280G>A)
c.3825G>A (p.Leu1275=)
c.1857G>A (p.Leu619=)
c.513G>A (p.Leu171=)
c.3872G>A
c.4914G>A (p.Leu1638=)
c.4368G>A (p.Leu1456=)
c.4307-4280G>A (n.4307-4280G>A)
n.232G>A
n.253-4280G>A
n.40-4280G>A
c.601G>A
c.4641G>A (p.Leu1547=)
c.4034-4280G>A (n.4034-4280G>A)
c.3276G>A (p.Leu1092=)
c.5190G>A (p.Leu1730=)
c.3488-4280G>A (n.3488-4280G>A)
c.4917G>A (p.Leu1639=)
c.4371G>A (p.Leu1457=)
c.4580-4280G>A (n.4580-4280G>A)
c.4098G>A (p.Leu1366=)
c.3761-4280G>A (n.3761-4280G>A)
c.3549G>A (p.Leu1183=)
c.5463G>A (p.Leu1821=)
c.5187G>A (p.Leu1729=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046622A>CCA374631294TNCc.318-4281T>G
c.3215-4281T>G (n.3215-4281T>G)
c.3824T>G (p.Leu1275Arg)
c.1856T>G (p.Leu619Arg)
c.512T>G (p.Leu171Arg)
c.3871T>G
c.4913T>G (p.Leu1638Arg)
c.4367T>G (p.Leu1456Arg)
c.4307-4281T>G (n.4307-4281T>G)
n.231T>G
n.253-4281T>G
n.40-4281T>G
c.600T>G
c.4640T>G (p.Leu1547Arg)
c.4034-4281T>G (n.4034-4281T>G)
c.3275T>G (p.Leu1092Arg)
c.5189T>G (p.Leu1730Arg)
c.3488-4281T>G (n.3488-4281T>G)
c.4916T>G (p.Leu1639Arg)
c.4370T>G (p.Leu1457Arg)
c.4580-4281T>G (n.4580-4281T>G)
c.4097T>G (p.Leu1366Arg)
c.3761-4281T>G (n.3761-4281T>G)
c.3548T>G (p.Leu1183Arg)
c.5462T>G (p.Leu1821Arg)
c.5186T>G (p.Leu1729Arg)
9g.115046622A>GCA374631295TNCc.318-4281T>C
c.3215-4281T>C (n.3215-4281T>C)
c.3824T>C (p.Leu1275Pro)
c.1856T>C (p.Leu619Pro)
c.512T>C (p.Leu171Pro)
c.3871T>C
c.4913T>C (p.Leu1638Pro)
c.4367T>C (p.Leu1456Pro)
c.4307-4281T>C (n.4307-4281T>C)
n.231T>C
n.253-4281T>C
n.40-4281T>C
c.600T>C
c.4640T>C (p.Leu1547Pro)
c.4034-4281T>C (n.4034-4281T>C)
c.3275T>C (p.Leu1092Pro)
c.5189T>C (p.Leu1730Pro)
c.3488-4281T>C (n.3488-4281T>C)
c.4916T>C (p.Leu1639Pro)
c.4370T>C (p.Leu1457Pro)
c.4580-4281T>C (n.4580-4281T>C)
c.4097T>C (p.Leu1366Pro)
c.3761-4281T>C (n.3761-4281T>C)
c.3548T>C (p.Leu1183Pro)
c.5462T>C (p.Leu1821Pro)
c.5186T>C (p.Leu1729Pro)
9g.115046622A>TCA374631297TNCc.318-4281T>A
c.3215-4281T>A (n.3215-4281T>A)
c.3824T>A (p.Leu1275Gln)
c.1856T>A (p.Leu619Gln)
c.512T>A (p.Leu171Gln)
c.3871T>A
c.4913T>A (p.Leu1638Gln)
c.4367T>A (p.Leu1456Gln)
c.4307-4281T>A (n.4307-4281T>A)
n.231T>A
n.253-4281T>A
n.40-4281T>A
c.600T>A
c.4640T>A (p.Leu1547Gln)
c.4034-4281T>A (n.4034-4281T>A)
c.3275T>A (p.Leu1092Gln)
c.5189T>A (p.Leu1730Gln)
c.3488-4281T>A (n.3488-4281T>A)
c.4916T>A (p.Leu1639Gln)
c.4370T>A (p.Leu1457Gln)
c.4580-4281T>A (n.4580-4281T>A)
c.4097T>A (p.Leu1366Gln)
c.3761-4281T>A (n.3761-4281T>A)
c.3548T>A (p.Leu1183Gln)
c.5462T>A (p.Leu1821Gln)
c.5186T>A (p.Leu1729Gln)
9g.115046623G>ACA466912552TNCc.318-4282C>T
c.3215-4282C>T (n.3215-4282C>T)
c.3823C>T (p.Leu1275=)
c.1855C>T (p.Leu619=)
c.511C>T (p.Leu171=)
c.3870C>T
c.4912C>T (p.Leu1638=)
c.4366C>T (p.Leu1456=)
c.4307-4282C>T (n.4307-4282C>T)
n.230C>T
n.253-4282C>T
n.40-4282C>T
c.599C>T
c.4639C>T (p.Leu1547=)
c.4034-4282C>T (n.4034-4282C>T)
c.3274C>T (p.Leu1092=)
c.5188C>T (p.Leu1730=)
c.3488-4282C>T (n.3488-4282C>T)
c.4915C>T (p.Leu1639=)
c.4369C>T (p.Leu1457=)
c.4580-4282C>T (n.4580-4282C>T)
c.4096C>T (p.Leu1366=)
c.3761-4282C>T (n.3761-4282C>T)
c.3547C>T (p.Leu1183=)
c.5461C>T (p.Leu1821=)
c.5185C>T (p.Leu1729=)
9g.115046623G>CCA374631299TNCc.318-4282C>G
c.3215-4282C>G (n.3215-4282C>G)
c.3823C>G (p.Leu1275Val)
c.1855C>G (p.Leu619Val)
c.511C>G (p.Leu171Val)
c.3870C>G
c.4912C>G (p.Leu1638Val)
c.4366C>G (p.Leu1456Val)
c.4307-4282C>G (n.4307-4282C>G)
n.230C>G
n.253-4282C>G
n.40-4282C>G
c.599C>G
c.4639C>G (p.Leu1547Val)
c.4034-4282C>G (n.4034-4282C>G)
c.3274C>G (p.Leu1092Val)
c.5188C>G (p.Leu1730Val)
c.3488-4282C>G (n.3488-4282C>G)
c.4915C>G (p.Leu1639Val)
c.4369C>G (p.Leu1457Val)
c.4580-4282C>G (n.4580-4282C>G)
c.4096C>G (p.Leu1366Val)
c.3761-4282C>G (n.3761-4282C>G)
c.3547C>G (p.Leu1183Val)
c.5461C>G (p.Leu1821Val)
c.5185C>G (p.Leu1729Val)
 COSMIC
9g.115046623G>TCA374631300TNCc.318-4282C>A
c.3215-4282C>A (n.3215-4282C>A)
c.3823C>A (p.Leu1275Met)
c.1855C>A (p.Leu619Met)
c.511C>A (p.Leu171Met)
c.3870C>A
c.4912C>A (p.Leu1638Met)
c.4366C>A (p.Leu1456Met)
c.4307-4282C>A (n.4307-4282C>A)
n.230C>A
n.253-4282C>A
n.40-4282C>A
c.599C>A
c.4639C>A (p.Leu1547Met)
c.4034-4282C>A (n.4034-4282C>A)
c.3274C>A (p.Leu1092Met)
c.5188C>A (p.Leu1730Met)
c.3488-4282C>A (n.3488-4282C>A)
c.4915C>A (p.Leu1639Met)
c.4369C>A (p.Leu1457Met)
c.4580-4282C>A (n.4580-4282C>A)
c.4096C>A (p.Leu1366Met)
c.3761-4282C>A (n.3761-4282C>A)
c.3547C>A (p.Leu1183Met)
c.5461C>A (p.Leu1821Met)
c.5185C>A (p.Leu1729Met)
9g.115046624A>CCA466912553TNCc.318-4283T>G
c.3215-4283T>G (n.3215-4283T>G)
c.3822T>G (p.Arg1274=)
c.1854T>G (p.Arg618=)
c.510T>G (p.Arg170=)
c.3869T>G
c.4911T>G (p.Arg1637=)
c.4365T>G (p.Arg1455=)
c.4307-4283T>G (n.4307-4283T>G)
n.229T>G
n.253-4283T>G
n.40-4283T>G
c.598T>G
c.69T>G (p.Arg23=)
c.4638T>G (p.Arg1546=)
c.4034-4283T>G (n.4034-4283T>G)
c.3273T>G (p.Arg1091=)
c.5187T>G (p.Arg1729=)
c.3488-4283T>G (n.3488-4283T>G)
c.4914T>G (p.Arg1638=)
c.4368T>G (p.Arg1456=)
c.4580-4283T>G (n.4580-4283T>G)
c.4095T>G (p.Arg1365=)
c.3761-4283T>G (n.3761-4283T>G)
c.3546T>G (p.Arg1182=)
c.5460T>G (p.Arg1820=)
c.5184T>G (p.Arg1728=)
9g.115046624A>GCA466912554TNCc.318-4283T>C
c.3215-4283T>C (n.3215-4283T>C)
c.3822T>C (p.Arg1274=)
c.1854T>C (p.Arg618=)
c.510T>C (p.Arg170=)
c.3869T>C
c.4911T>C (p.Arg1637=)
c.4365T>C (p.Arg1455=)
c.4307-4283T>C (n.4307-4283T>C)
n.229T>C
n.253-4283T>C
n.40-4283T>C
c.598T>C
c.69T>C (p.Arg23=)
c.4638T>C (p.Arg1546=)
c.4034-4283T>C (n.4034-4283T>C)
c.3273T>C (p.Arg1091=)
c.5187T>C (p.Arg1729=)
c.3488-4283T>C (n.3488-4283T>C)
c.4914T>C (p.Arg1638=)
c.4368T>C (p.Arg1456=)
c.4580-4283T>C (n.4580-4283T>C)
c.4095T>C (p.Arg1365=)
c.3761-4283T>C (n.3761-4283T>C)
c.3546T>C (p.Arg1182=)
c.5460T>C (p.Arg1820=)
c.5184T>C (p.Arg1728=)
 gnomAD v4
9g.115046624A>TCA466912555TNCc.318-4283T>A
c.3215-4283T>A (n.3215-4283T>A)
c.3822T>A (p.Arg1274=)
c.1854T>A (p.Arg618=)
c.510T>A (p.Arg170=)
c.3869T>A
c.4911T>A (p.Arg1637=)
c.4365T>A (p.Arg1455=)
c.4307-4283T>A (n.4307-4283T>A)
n.229T>A
n.253-4283T>A
n.40-4283T>A
c.598T>A
c.69T>A (p.Arg23=)
c.4638T>A (p.Arg1546=)
c.4034-4283T>A (n.4034-4283T>A)
c.3273T>A (p.Arg1091=)
c.5187T>A (p.Arg1729=)
c.3488-4283T>A (n.3488-4283T>A)
c.4914T>A (p.Arg1638=)
c.4368T>A (p.Arg1456=)
c.4580-4283T>A (n.4580-4283T>A)
c.4095T>A (p.Arg1365=)
c.3761-4283T>A (n.3761-4283T>A)
c.3546T>A (p.Arg1182=)
c.5460T>A (p.Arg1820=)
c.5184T>A (p.Arg1728=)
9g.115046625C>ACA374631302TNCc.318-4284G>T
c.3215-4284G>T (n.3215-4284G>T)
c.3821G>T (p.Arg1274Leu)
c.1853G>T (p.Arg618Leu)
c.509G>T (p.Arg170Leu)
c.3868G>T
c.4910G>T (p.Arg1637Leu)
c.4364G>T (p.Arg1455Leu)
c.4307-4284G>T (n.4307-4284G>T)
n.228G>T
n.253-4284G>T
n.40-4284G>T
c.597G>T
c.68G>T (p.Arg23Leu)
c.4637G>T (p.Arg1546Leu)
c.4034-4284G>T (n.4034-4284G>T)
c.3272G>T (p.Arg1091Leu)
c.5186G>T (p.Arg1729Leu)
c.3488-4284G>T (n.3488-4284G>T)
c.4913G>T (p.Arg1638Leu)
c.4367G>T (p.Arg1456Leu)
c.4580-4284G>T (n.4580-4284G>T)
c.4094G>T (p.Arg1365Leu)
c.3761-4284G>T (n.3761-4284G>T)
c.3545G>T (p.Arg1182Leu)
c.5459G>T (p.Arg1820Leu)
c.5183G>T (p.Arg1728Leu)
9g.115046625C=CA1874118945TNCc.318-4284G=
c.3215-4284G= (n.3215-4284G=)
c.3821G= (p.Arg1274=)
c.1853G= (p.Arg618=)
c.509G= (p.Arg170=)
c.3868G=
c.4910G= (p.Arg1637=)
c.4364G= (p.Arg1455=)
c.4307-4284G= (n.4307-4284G=)
n.228G=
n.253-4284G=
n.40-4284G=
c.597G=
c.68G= (p.Arg23=)
c.4637G= (p.Arg1546=)
c.4034-4284G= (n.4034-4284G=)
c.3272G= (p.Arg1091=)
c.5186G= (p.Arg1729=)
c.3488-4284G= (n.3488-4284G=)
c.4913G= (p.Arg1638=)
c.4367G= (p.Arg1456=)
c.4580-4284G= (n.4580-4284G=)
c.4094G= (p.Arg1365=)
c.3761-4284G= (n.3761-4284G=)
c.3545G= (p.Arg1182=)
c.5459G= (p.Arg1820=)
c.5183G= (p.Arg1728=)
9g.115046625C>GCA374631304TNCc.318-4284G>C
c.3215-4284G>C (n.3215-4284G>C)
c.3821G>C (p.Arg1274Pro)
c.1853G>C (p.Arg618Pro)
c.509G>C (p.Arg170Pro)
c.3868G>C
c.4910G>C (p.Arg1637Pro)
c.4364G>C (p.Arg1455Pro)
c.4307-4284G>C (n.4307-4284G>C)
n.228G>C
n.253-4284G>C
n.40-4284G>C
c.597G>C
c.68G>C (p.Arg23Pro)
c.4637G>C (p.Arg1546Pro)
c.4034-4284G>C (n.4034-4284G>C)
c.3272G>C (p.Arg1091Pro)
c.5186G>C (p.Arg1729Pro)
c.3488-4284G>C (n.3488-4284G>C)
c.4913G>C (p.Arg1638Pro)
c.4367G>C (p.Arg1456Pro)
c.4580-4284G>C (n.4580-4284G>C)
c.4094G>C (p.Arg1365Pro)
c.3761-4284G>C (n.3761-4284G>C)
c.3545G>C (p.Arg1182Pro)
c.5459G>C (p.Arg1820Pro)
c.5183G>C (p.Arg1728Pro)
9g.115046625C>TCA198692731TNCc.318-4284G>A
c.3215-4284G>A (n.3215-4284G>A)
c.3821G>A (p.Arg1274His)
c.1853G>A (p.Arg618His)
c.509G>A (p.Arg170His)
c.3868G>A
c.4910G>A (p.Arg1637His)
c.4364G>A (p.Arg1455His)
c.4307-4284G>A (n.4307-4284G>A)
n.228G>A
n.253-4284G>A
n.40-4284G>A
c.597G>A
c.68G>A (p.Arg23His)
c.4637G>A (p.Arg1546His)
c.4034-4284G>A (n.4034-4284G>A)
c.3272G>A (p.Arg1091His)
c.5186G>A (p.Arg1729His)
c.3488-4284G>A (n.3488-4284G>A)
c.4913G>A (p.Arg1638His)
c.4367G>A (p.Arg1456His)
c.4580-4284G>A (n.4580-4284G>A)
c.4094G>A (p.Arg1365His)
c.3761-4284G>A (n.3761-4284G>A)
c.3545G>A (p.Arg1182His)
c.5459G>A (p.Arg1820His)
c.5183G>A (p.Arg1728His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046628_115046674delCA2691393498TNCc.318-4330_318-4284del
c.3215-4330_3215-4284del (n.3215-4330_3215-4284del)
c.3775_3821del (p.Glu1259SerfsTer6)
c.1807_1853del (p.Glu603SerfsTer6)
c.463_509del (p.Glu155SerfsTer6)
c.3822_3868del
c.4864_4910del (p.Glu1622SerfsTer6)
c.4318_4364del (p.Glu1440SerfsTer6)
c.4307-4330_4307-4284del (n.4307-4330_4307-4284del)
n.182_228del
n.253-4330_253-4284del
n.40-4330_40-4284del
c.551_597del
c.22_68del (p.Glu8=)
c.4591_4637del (p.Glu1531SerfsTer6)
c.4034-4330_4034-4284del (n.4034-4330_4034-4284del)
c.3226_3272del (p.Glu1076SerfsTer6)
c.5140_5186del (p.Glu1714SerfsTer6)
c.3488-4330_3488-4284del (n.3488-4330_3488-4284del)
c.4867_4913del (p.Glu1623SerfsTer6)
c.4321_4367del (p.Glu1441SerfsTer6)
c.4580-4330_4580-4284del (n.4580-4330_4580-4284del)
c.4048_4094del (p.Glu1350SerfsTer6)
c.3761-4330_3761-4284del (n.3761-4330_3761-4284del)
c.3499_3545del (p.Glu1167SerfsTer6)
c.5413_5459del (p.Glu1805SerfsTer6)
c.5137_5183del (p.Glu1713SerfsTer6)
 gnomAD v4
9g.115046626G>ACA374631306TNCc.318-4285C>T
c.3215-4285C>T (n.3215-4285C>T)
c.3820C>T (p.Arg1274Cys)
c.1852C>T (p.Arg618Cys)
c.508C>T (p.Arg170Cys)
c.3867C>T
c.4909C>T (p.Arg1637Cys)
c.4363C>T (p.Arg1455Cys)
c.4307-4285C>T (n.4307-4285C>T)
n.227C>T
n.253-4285C>T
n.40-4285C>T
c.596C>T
c.67C>T (p.Arg23Cys)
c.4636C>T (p.Arg1546Cys)
c.4034-4285C>T (n.4034-4285C>T)
c.3271C>T (p.Arg1091Cys)
c.5185C>T (p.Arg1729Cys)
c.3488-4285C>T (n.3488-4285C>T)
c.4912C>T (p.Arg1638Cys)
c.4366C>T (p.Arg1456Cys)
c.4580-4285C>T (n.4580-4285C>T)
c.4093C>T (p.Arg1365Cys)
c.3761-4285C>T (n.3761-4285C>T)
c.3544C>T (p.Arg1182Cys)
c.5458C>T (p.Arg1820Cys)
c.5182C>T (p.Arg1728Cys)
 dbSNP gnomAD v4
9g.115046626G>CCA374631309TNCc.318-4285C>G
c.3215-4285C>G (n.3215-4285C>G)
c.3820C>G (p.Arg1274Gly)
c.1852C>G (p.Arg618Gly)
c.508C>G (p.Arg170Gly)
c.3867C>G
c.4909C>G (p.Arg1637Gly)
c.4363C>G (p.Arg1455Gly)
c.4307-4285C>G (n.4307-4285C>G)
n.227C>G
n.253-4285C>G
n.40-4285C>G
c.596C>G
c.67C>G (p.Arg23Gly)
c.4636C>G (p.Arg1546Gly)
c.4034-4285C>G (n.4034-4285C>G)
c.3271C>G (p.Arg1091Gly)
c.5185C>G (p.Arg1729Gly)
c.3488-4285C>G (n.3488-4285C>G)
c.4912C>G (p.Arg1638Gly)
c.4366C>G (p.Arg1456Gly)
c.4580-4285C>G (n.4580-4285C>G)
c.4093C>G (p.Arg1365Gly)
c.3761-4285C>G (n.3761-4285C>G)
c.3544C>G (p.Arg1182Gly)
c.5458C>G (p.Arg1820Gly)
c.5182C>G (p.Arg1728Gly)
9g.115046626G=CA1874118946TNCc.318-4285C=
c.3215-4285C= (n.3215-4285C=)
c.3820C= (p.Arg1274=)
c.1852C= (p.Arg618=)
c.508C= (p.Arg170=)
c.3867C=
c.4909C= (p.Arg1637=)
c.4363C= (p.Arg1455=)
c.4307-4285C= (n.4307-4285C=)
n.227C=
n.253-4285C=
n.40-4285C=
c.596C=
c.67C= (p.Arg23=)
c.4636C= (p.Arg1546=)
c.4034-4285C= (n.4034-4285C=)
c.3271C= (p.Arg1091=)
c.5185C= (p.Arg1729=)
c.3488-4285C= (n.3488-4285C=)
c.4912C= (p.Arg1638=)
c.4366C= (p.Arg1456=)
c.4580-4285C= (n.4580-4285C=)
c.4093C= (p.Arg1365=)
c.3761-4285C= (n.3761-4285C=)
c.3544C= (p.Arg1182=)
c.5458C= (p.Arg1820=)
c.5182C= (p.Arg1728=)
9g.115046626G>TCA374631308TNCc.318-4285C>A
c.3215-4285C>A (n.3215-4285C>A)
c.3820C>A (p.Arg1274Ser)
c.1852C>A (p.Arg618Ser)
c.508C>A (p.Arg170Ser)
c.3867C>A
c.4909C>A (p.Arg1637Ser)
c.4363C>A (p.Arg1455Ser)
c.4307-4285C>A (n.4307-4285C>A)
n.227C>A
n.253-4285C>A
n.40-4285C>A
c.596C>A
c.67C>A (p.Arg23Ser)
c.4636C>A (p.Arg1546Ser)
c.4034-4285C>A (n.4034-4285C>A)
c.3271C>A (p.Arg1091Ser)
c.5185C>A (p.Arg1729Ser)
c.3488-4285C>A (n.3488-4285C>A)
c.4912C>A (p.Arg1638Ser)
c.4366C>A (p.Arg1456Ser)
c.4580-4285C>A (n.4580-4285C>A)
c.4093C>A (p.Arg1365Ser)
c.3761-4285C>A (n.3761-4285C>A)
c.3544C>A (p.Arg1182Ser)
c.5458C>A (p.Arg1820Ser)
c.5182C>A (p.Arg1728Ser)
9g.115046627G>ACA466912556TNCc.318-4286C>T
c.3215-4286C>T (n.3215-4286C>T)
c.3819C>T (p.Phe1273=)
c.1851C>T (p.Phe617=)
c.507C>T (p.Phe169=)
c.3866C>T
c.4908C>T (p.Phe1636=)
c.4362C>T (p.Phe1454=)
c.4307-4286C>T (n.4307-4286C>T)
n.226C>T
n.253-4286C>T
n.40-4286C>T
c.595C>T
c.66C>T (p.Phe22=)
c.4635C>T (p.Phe1545=)
c.4034-4286C>T (n.4034-4286C>T)
c.3270C>T (p.Phe1090=)
c.5184C>T (p.Phe1728=)
c.3488-4286C>T (n.3488-4286C>T)
c.4911C>T (p.Phe1637=)
c.4365C>T (p.Phe1455=)
c.4580-4286C>T (n.4580-4286C>T)
c.4092C>T (p.Phe1364=)
c.3761-4286C>T (n.3761-4286C>T)
c.3543C>T (p.Phe1181=)
c.5457C>T (p.Phe1819=)
c.5181C>T (p.Phe1727=)
9g.115046627G>CCA374631311TNCc.318-4286C>G
c.3215-4286C>G (n.3215-4286C>G)
c.3819C>G (p.Phe1273Leu)
c.1851C>G (p.Phe617Leu)
c.507C>G (p.Phe169Leu)
c.3866C>G
c.4908C>G (p.Phe1636Leu)
c.4362C>G (p.Phe1454Leu)
c.4307-4286C>G (n.4307-4286C>G)
n.226C>G
n.253-4286C>G
n.40-4286C>G
c.595C>G
c.66C>G (p.Phe22Leu)
c.4635C>G (p.Phe1545Leu)
c.4034-4286C>G (n.4034-4286C>G)
c.3270C>G (p.Phe1090Leu)
c.5184C>G (p.Phe1728Leu)
c.3488-4286C>G (n.3488-4286C>G)
c.4911C>G (p.Phe1637Leu)
c.4365C>G (p.Phe1455Leu)
c.4580-4286C>G (n.4580-4286C>G)
c.4092C>G (p.Phe1364Leu)
c.3761-4286C>G (n.3761-4286C>G)
c.3543C>G (p.Phe1181Leu)
c.5457C>G (p.Phe1819Leu)
c.5181C>G (p.Phe1727Leu)
9g.115046627G=CA1874118947TNCc.318-4286C=
c.3215-4286C= (n.3215-4286C=)
c.3819C= (p.Phe1273=)
c.1851C= (p.Phe617=)
c.507C= (p.Phe169=)
c.3866C=
c.4908C= (p.Phe1636=)
c.4362C= (p.Phe1454=)
c.4307-4286C= (n.4307-4286C=)
n.226C=
n.253-4286C=
n.40-4286C=
c.595C=
c.66C= (p.Phe22=)
c.4635C= (p.Phe1545=)
c.4034-4286C= (n.4034-4286C=)
c.3270C= (p.Phe1090=)
c.5184C= (p.Phe1728=)
c.3488-4286C= (n.3488-4286C=)
c.4911C= (p.Phe1637=)
c.4365C= (p.Phe1455=)
c.4580-4286C= (n.4580-4286C=)
c.4092C= (p.Phe1364=)
c.3761-4286C= (n.3761-4286C=)
c.3543C= (p.Phe1181=)
c.5457C= (p.Phe1819=)
c.5181C= (p.Phe1727=)
9g.115046627G>TCA198692732TNCc.318-4286C>A
c.3215-4286C>A (n.3215-4286C>A)
c.3819C>A (p.Phe1273Leu)
c.1851C>A (p.Phe617Leu)
c.507C>A (p.Phe169Leu)
c.3866C>A
c.4908C>A (p.Phe1636Leu)
c.4362C>A (p.Phe1454Leu)
c.4307-4286C>A (n.4307-4286C>A)
n.226C>A
n.253-4286C>A
n.40-4286C>A
c.595C>A
c.66C>A (p.Phe22Leu)
c.4635C>A (p.Phe1545Leu)
c.4034-4286C>A (n.4034-4286C>A)
c.3270C>A (p.Phe1090Leu)
c.5184C>A (p.Phe1728Leu)
c.3488-4286C>A (n.3488-4286C>A)
c.4911C>A (p.Phe1637Leu)
c.4365C>A (p.Phe1455Leu)
c.4580-4286C>A (n.4580-4286C>A)
c.4092C>A (p.Phe1364Leu)
c.3761-4286C>A (n.3761-4286C>A)
c.3543C>A (p.Phe1181Leu)
c.5457C>A (p.Phe1819Leu)
c.5181C>A (p.Phe1727Leu)
 dbSNP
9g.115046628A>CCA374631313TNCc.318-4287T>G
c.3215-4287T>G (n.3215-4287T>G)
c.3818T>G (p.Phe1273Cys)
c.1850T>G (p.Phe617Cys)
c.506T>G (p.Phe169Cys)
c.3865T>G
c.4907T>G (p.Phe1636Cys)
c.4361T>G (p.Phe1454Cys)
c.4307-4287T>G (n.4307-4287T>G)
n.225T>G
n.253-4287T>G
n.40-4287T>G
c.594T>G
c.65T>G (p.Phe22Cys)
c.4634T>G (p.Phe1545Cys)
c.4034-4287T>G (n.4034-4287T>G)
c.3269T>G (p.Phe1090Cys)
c.5183T>G (p.Phe1728Cys)
c.3488-4287T>G (n.3488-4287T>G)
c.4910T>G (p.Phe1637Cys)
c.4364T>G (p.Phe1455Cys)
c.4580-4287T>G (n.4580-4287T>G)
c.4091T>G (p.Phe1364Cys)
c.3761-4287T>G (n.3761-4287T>G)
c.3542T>G (p.Phe1181Cys)
c.5456T>G (p.Phe1819Cys)
c.5180T>G (p.Phe1727Cys)
9g.115046628A>GCA374631315TNCc.318-4287T>C
c.3215-4287T>C (n.3215-4287T>C)
c.3818T>C (p.Phe1273Ser)
c.1850T>C (p.Phe617Ser)
c.506T>C (p.Phe169Ser)
c.3865T>C
c.4907T>C (p.Phe1636Ser)
c.4361T>C (p.Phe1454Ser)
c.4307-4287T>C (n.4307-4287T>C)
n.225T>C
n.253-4287T>C
n.40-4287T>C
c.594T>C
c.65T>C (p.Phe22Ser)
c.4634T>C (p.Phe1545Ser)
c.4034-4287T>C (n.4034-4287T>C)
c.3269T>C (p.Phe1090Ser)
c.5183T>C (p.Phe1728Ser)
c.3488-4287T>C (n.3488-4287T>C)
c.4910T>C (p.Phe1637Ser)
c.4364T>C (p.Phe1455Ser)
c.4580-4287T>C (n.4580-4287T>C)
c.4091T>C (p.Phe1364Ser)
c.3761-4287T>C (n.3761-4287T>C)
c.3542T>C (p.Phe1181Ser)
c.5456T>C (p.Phe1819Ser)
c.5180T>C (p.Phe1727Ser)
9g.115046628A>TCA374631317TNCc.318-4287T>A
c.3215-4287T>A (n.3215-4287T>A)
c.3818T>A (p.Phe1273Tyr)
c.1850T>A (p.Phe617Tyr)
c.506T>A (p.Phe169Tyr)
c.3865T>A
c.4907T>A (p.Phe1636Tyr)
c.4361T>A (p.Phe1454Tyr)
c.4307-4287T>A (n.4307-4287T>A)
n.225T>A
n.253-4287T>A
n.40-4287T>A
c.594T>A
c.65T>A (p.Phe22Tyr)
c.4634T>A (p.Phe1545Tyr)
c.4034-4287T>A (n.4034-4287T>A)
c.3269T>A (p.Phe1090Tyr)
c.5183T>A (p.Phe1728Tyr)
c.3488-4287T>A (n.3488-4287T>A)
c.4910T>A (p.Phe1637Tyr)
c.4364T>A (p.Phe1455Tyr)
c.4580-4287T>A (n.4580-4287T>A)
c.4091T>A (p.Phe1364Tyr)
c.3761-4287T>A (n.3761-4287T>A)
c.3542T>A (p.Phe1181Tyr)
c.5456T>A (p.Phe1819Tyr)
c.5180T>A (p.Phe1727Tyr)
9g.115046629A>CCA374631318TNCc.318-4288T>G
c.3215-4288T>G (n.3215-4288T>G)
c.3817T>G (p.Phe1273Val)
c.1849T>G (p.Phe617Val)
c.505T>G (p.Phe169Val)
c.3864T>G
c.4906T>G (p.Phe1636Val)
c.4360T>G (p.Phe1454Val)
c.4307-4288T>G (n.4307-4288T>G)
n.224T>G
n.253-4288T>G
n.40-4288T>G
c.593T>G
c.64T>G (p.Phe22Val)
c.4633T>G (p.Phe1545Val)
c.4034-4288T>G (n.4034-4288T>G)
c.3268T>G (p.Phe1090Val)
c.5182T>G (p.Phe1728Val)
c.3488-4288T>G (n.3488-4288T>G)
c.4909T>G (p.Phe1637Val)
c.4363T>G (p.Phe1455Val)
c.4580-4288T>G (n.4580-4288T>G)
c.4090T>G (p.Phe1364Val)
c.3761-4288T>G (n.3761-4288T>G)
c.3541T>G (p.Phe1181Val)
c.5455T>G (p.Phe1819Val)
c.5179T>G (p.Phe1727Val)
9g.115046629A>GCA374631319TNCc.318-4288T>C
c.3215-4288T>C (n.3215-4288T>C)
c.3817T>C (p.Phe1273Leu)
c.1849T>C (p.Phe617Leu)
c.505T>C (p.Phe169Leu)
c.3864T>C
c.4906T>C (p.Phe1636Leu)
c.4360T>C (p.Phe1454Leu)
c.4307-4288T>C (n.4307-4288T>C)
n.224T>C
n.253-4288T>C
n.40-4288T>C
c.593T>C
c.64T>C (p.Phe22Leu)
c.4633T>C (p.Phe1545Leu)
c.4034-4288T>C (n.4034-4288T>C)
c.3268T>C (p.Phe1090Leu)
c.5182T>C (p.Phe1728Leu)
c.3488-4288T>C (n.3488-4288T>C)
c.4909T>C (p.Phe1637Leu)
c.4363T>C (p.Phe1455Leu)
c.4580-4288T>C (n.4580-4288T>C)
c.4090T>C (p.Phe1364Leu)
c.3761-4288T>C (n.3761-4288T>C)
c.3541T>C (p.Phe1181Leu)
c.5455T>C (p.Phe1819Leu)
c.5179T>C (p.Phe1727Leu)
9g.115046629A>TCA374631320TNCc.318-4288T>A
c.3215-4288T>A (n.3215-4288T>A)
c.3817T>A (p.Phe1273Ile)
c.1849T>A (p.Phe617Ile)
c.505T>A (p.Phe169Ile)
c.3864T>A
c.4906T>A (p.Phe1636Ile)
c.4360T>A (p.Phe1454Ile)
c.4307-4288T>A (n.4307-4288T>A)
n.224T>A
n.253-4288T>A
n.40-4288T>A
c.593T>A
c.64T>A (p.Phe22Ile)
c.4633T>A (p.Phe1545Ile)
c.4034-4288T>A (n.4034-4288T>A)
c.3268T>A (p.Phe1090Ile)
c.5182T>A (p.Phe1728Ile)
c.3488-4288T>A (n.3488-4288T>A)
c.4909T>A (p.Phe1637Ile)
c.4363T>A (p.Phe1455Ile)
c.4580-4288T>A (n.4580-4288T>A)
c.4090T>A (p.Phe1364Ile)
c.3761-4288T>A (n.3761-4288T>A)
c.3541T>A (p.Phe1181Ile)
c.5455T>A (p.Phe1819Ile)
c.5179T>A (p.Phe1727Ile)
 COSMIC
9g.115046630A>CCA466912557TNCc.318-4289T>G
c.3215-4289T>G (n.3215-4289T>G)
c.3816T>G (p.Gly1272=)
c.1848T>G (p.Gly616=)
c.504T>G (p.Gly168=)
c.3863T>G
c.4905T>G (p.Gly1635=)
c.4359T>G (p.Gly1453=)
c.4307-4289T>G (n.4307-4289T>G)
n.223T>G
n.253-4289T>G
n.40-4289T>G
c.592T>G
c.63T>G (p.Gly21=)
c.4632T>G (p.Gly1544=)
c.4034-4289T>G (n.4034-4289T>G)
c.3267T>G (p.Gly1089=)
c.5181T>G (p.Gly1727=)
c.3488-4289T>G (n.3488-4289T>G)
c.4908T>G (p.Gly1636=)
c.4362T>G (p.Gly1454=)
c.4580-4289T>G (n.4580-4289T>G)
c.4089T>G (p.Gly1363=)
c.3761-4289T>G (n.3761-4289T>G)
c.3540T>G (p.Gly1180=)
c.5454T>G (p.Gly1818=)
c.5178T>G (p.Gly1726=)
9g.115046630A>GCA466912558TNCc.318-4289T>C
c.3215-4289T>C (n.3215-4289T>C)
c.3816T>C (p.Gly1272=)
c.1848T>C (p.Gly616=)
c.504T>C (p.Gly168=)
c.3863T>C
c.4905T>C (p.Gly1635=)
c.4359T>C (p.Gly1453=)
c.4307-4289T>C (n.4307-4289T>C)
n.223T>C
n.253-4289T>C
n.40-4289T>C
c.592T>C
c.63T>C (p.Gly21=)
c.4632T>C (p.Gly1544=)
c.4034-4289T>C (n.4034-4289T>C)
c.3267T>C (p.Gly1089=)
c.5181T>C (p.Gly1727=)
c.3488-4289T>C (n.3488-4289T>C)
c.4908T>C (p.Gly1636=)
c.4362T>C (p.Gly1454=)
c.4580-4289T>C (n.4580-4289T>C)
c.4089T>C (p.Gly1363=)
c.3761-4289T>C (n.3761-4289T>C)
c.3540T>C (p.Gly1180=)
c.5454T>C (p.Gly1818=)
c.5178T>C (p.Gly1726=)
 gnomAD v4
9g.115046630A>TCA466912559TNCc.318-4289T>A
c.3215-4289T>A (n.3215-4289T>A)
c.3816T>A (p.Gly1272=)
c.1848T>A (p.Gly616=)
c.504T>A (p.Gly168=)
c.3863T>A
c.4905T>A (p.Gly1635=)
c.4359T>A (p.Gly1453=)
c.4307-4289T>A (n.4307-4289T>A)
n.223T>A
n.253-4289T>A
n.40-4289T>A
c.592T>A
c.63T>A (p.Gly21=)
c.4632T>A (p.Gly1544=)
c.4034-4289T>A (n.4034-4289T>A)
c.3267T>A (p.Gly1089=)
c.5181T>A (p.Gly1727=)
c.3488-4289T>A (n.3488-4289T>A)
c.4908T>A (p.Gly1636=)
c.4362T>A (p.Gly1454=)
c.4580-4289T>A (n.4580-4289T>A)
c.4089T>A (p.Gly1363=)
c.3761-4289T>A (n.3761-4289T>A)
c.3540T>A (p.Gly1180=)
c.5454T>A (p.Gly1818=)
c.5178T>A (p.Gly1726=)
9g.115046631C>ACA374631322TNCc.318-4290G>T
c.3215-4290G>T (n.3215-4290G>T)
c.3815G>T (p.Gly1272Val)
c.1847G>T (p.Gly616Val)
c.503G>T (p.Gly168Val)
c.3862G>T
c.4904G>T (p.Gly1635Val)
c.4358G>T (p.Gly1453Val)
c.4307-4290G>T (n.4307-4290G>T)
n.222G>T
n.253-4290G>T
n.40-4290G>T
c.591G>T
c.62G>T (p.Gly21Val)
c.4631G>T (p.Gly1544Val)
c.4034-4290G>T (n.4034-4290G>T)
c.3266G>T (p.Gly1089Val)
c.5180G>T (p.Gly1727Val)
c.3488-4290G>T (n.3488-4290G>T)
c.4907G>T (p.Gly1636Val)
c.4361G>T (p.Gly1454Val)
c.4580-4290G>T (n.4580-4290G>T)
c.4088G>T (p.Gly1363Val)
c.3761-4290G>T (n.3761-4290G>T)
c.3539G>T (p.Gly1180Val)
c.5453G>T (p.Gly1818Val)
c.5177G>T (p.Gly1726Val)
9g.115046631C>GCA374631324TNCc.318-4290G>C
c.3215-4290G>C (n.3215-4290G>C)
c.3815G>C (p.Gly1272Ala)
c.1847G>C (p.Gly616Ala)
c.503G>C (p.Gly168Ala)
c.3862G>C
c.4904G>C (p.Gly1635Ala)
c.4358G>C (p.Gly1453Ala)
c.4307-4290G>C (n.4307-4290G>C)
n.222G>C
n.253-4290G>C
n.40-4290G>C
c.591G>C
c.62G>C (p.Gly21Ala)
c.4631G>C (p.Gly1544Ala)
c.4034-4290G>C (n.4034-4290G>C)
c.3266G>C (p.Gly1089Ala)
c.5180G>C (p.Gly1727Ala)
c.3488-4290G>C (n.3488-4290G>C)
c.4907G>C (p.Gly1636Ala)
c.4361G>C (p.Gly1454Ala)
c.4580-4290G>C (n.4580-4290G>C)
c.4088G>C (p.Gly1363Ala)
c.3761-4290G>C (n.3761-4290G>C)
c.3539G>C (p.Gly1180Ala)
c.5453G>C (p.Gly1818Ala)
c.5177G>C (p.Gly1726Ala)
9g.115046631C>TCA374631326TNCc.318-4290G>A
c.3215-4290G>A (n.3215-4290G>A)
c.3815G>A (p.Gly1272Asp)
c.1847G>A (p.Gly616Asp)
c.503G>A (p.Gly168Asp)
c.3862G>A
c.4904G>A (p.Gly1635Asp)
c.4358G>A (p.Gly1453Asp)
c.4307-4290G>A (n.4307-4290G>A)
n.222G>A
n.253-4290G>A
n.40-4290G>A
c.591G>A
c.62G>A (p.Gly21Asp)
c.4631G>A (p.Gly1544Asp)
c.4034-4290G>A (n.4034-4290G>A)
c.3266G>A (p.Gly1089Asp)
c.5180G>A (p.Gly1727Asp)
c.3488-4290G>A (n.3488-4290G>A)
c.4907G>A (p.Gly1636Asp)
c.4361G>A (p.Gly1454Asp)
c.4580-4290G>A (n.4580-4290G>A)
c.4088G>A (p.Gly1363Asp)
c.3761-4290G>A (n.3761-4290G>A)
c.3539G>A (p.Gly1180Asp)
c.5453G>A (p.Gly1818Asp)
c.5177G>A (p.Gly1726Asp)
9g.115046632C>ACA374631328TNCc.318-4291G>T
c.3215-4291G>T (n.3215-4291G>T)
c.3814G>T (p.Gly1272Cys)
c.1846G>T (p.Gly616Cys)
c.502G>T (p.Gly168Cys)
c.3861G>T
c.4903G>T (p.Gly1635Cys)
c.4357G>T (p.Gly1453Cys)
c.4307-4291G>T (n.4307-4291G>T)
n.221G>T
n.253-4291G>T
n.40-4291G>T
c.590G>T
c.61G>T (p.Gly21Cys)
c.4630G>T (p.Gly1544Cys)
c.4034-4291G>T (n.4034-4291G>T)
c.3265G>T (p.Gly1089Cys)
c.5179G>T (p.Gly1727Cys)
c.3488-4291G>T (n.3488-4291G>T)
c.4906G>T (p.Gly1636Cys)
c.4360G>T (p.Gly1454Cys)
c.4580-4291G>T (n.4580-4291G>T)
c.4087G>T (p.Gly1363Cys)
c.3761-4291G>T (n.3761-4291G>T)
c.3538G>T (p.Gly1180Cys)
c.5452G>T (p.Gly1818Cys)
c.5176G>T (p.Gly1726Cys)
9g.115046632C=CA1874118948TNCc.318-4291G=
c.3215-4291G= (n.3215-4291G=)
c.3814G= (p.Gly1272=)
c.1846G= (p.Gly616=)
c.502G= (p.Gly168=)
c.3861G=
c.4903G= (p.Gly1635=)
c.4357G= (p.Gly1453=)
c.4307-4291G= (n.4307-4291G=)
n.221G=
n.253-4291G=
n.40-4291G=
c.590G=
c.61G= (p.Gly21=)
c.4630G= (p.Gly1544=)
c.4034-4291G= (n.4034-4291G=)
c.3265G= (p.Gly1089=)
c.5179G= (p.Gly1727=)
c.3488-4291G= (n.3488-4291G=)
c.4906G= (p.Gly1636=)
c.4360G= (p.Gly1454=)
c.4580-4291G= (n.4580-4291G=)
c.4087G= (p.Gly1363=)
c.3761-4291G= (n.3761-4291G=)
c.3538G= (p.Gly1180=)
c.5452G= (p.Gly1818=)
c.5176G= (p.Gly1726=)
9g.115046632C>GCA374631327TNCc.318-4291G>C
c.3215-4291G>C (n.3215-4291G>C)
c.3814G>C (p.Gly1272Arg)
c.1846G>C (p.Gly616Arg)
c.502G>C (p.Gly168Arg)
c.3861G>C
c.4903G>C (p.Gly1635Arg)
c.4357G>C (p.Gly1453Arg)
c.4307-4291G>C (n.4307-4291G>C)
n.221G>C
n.253-4291G>C
n.40-4291G>C
c.590G>C
c.61G>C (p.Gly21Arg)
c.4630G>C (p.Gly1544Arg)
c.4034-4291G>C (n.4034-4291G>C)
c.3265G>C (p.Gly1089Arg)
c.5179G>C (p.Gly1727Arg)
c.3488-4291G>C (n.3488-4291G>C)
c.4906G>C (p.Gly1636Arg)
c.4360G>C (p.Gly1454Arg)
c.4580-4291G>C (n.4580-4291G>C)
c.4087G>C (p.Gly1363Arg)
c.3761-4291G>C (n.3761-4291G>C)
c.3538G>C (p.Gly1180Arg)
c.5452G>C (p.Gly1818Arg)
c.5176G>C (p.Gly1726Arg)
9g.115046632C>TCA198692735TNCc.318-4291G>A
c.3215-4291G>A (n.3215-4291G>A)
c.3814G>A (p.Gly1272Ser)
c.1846G>A (p.Gly616Ser)
c.502G>A (p.Gly168Ser)
c.3861G>A
c.4903G>A (p.Gly1635Ser)
c.4357G>A (p.Gly1453Ser)
c.4307-4291G>A (n.4307-4291G>A)
n.221G>A
n.253-4291G>A
n.40-4291G>A
c.590G>A
c.61G>A (p.Gly21Ser)
c.4630G>A (p.Gly1544Ser)
c.4034-4291G>A (n.4034-4291G>A)
c.3265G>A (p.Gly1089Ser)
c.5179G>A (p.Gly1727Ser)
c.3488-4291G>A (n.3488-4291G>A)
c.4906G>A (p.Gly1636Ser)
c.4360G>A (p.Gly1454Ser)
c.4580-4291G>A (n.4580-4291G>A)
c.4087G>A (p.Gly1363Ser)
c.3761-4291G>A (n.3761-4291G>A)
c.3538G>A (p.Gly1180Ser)
c.5452G>A (p.Gly1818Ser)
c.5176G>A (p.Gly1726Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046633G>ACA5207790TNCc.318-4292C>T
c.3215-4292C>T (n.3215-4292C>T)
c.3813C>T (p.Asp1271=)
c.1845C>T (p.Asp615=)
c.501C>T (p.Asp167=)
c.3860C>T
c.4902C>T (p.Asp1634=)
c.4356C>T (p.Asp1452=)
c.4307-4292C>T (n.4307-4292C>T)
n.220C>T
n.253-4292C>T
n.40-4292C>T
c.589C>T
c.60C>T (p.Asp20=)
c.4629C>T (p.Asp1543=)
c.4034-4292C>T (n.4034-4292C>T)
c.3264C>T (p.Asp1088=)
c.5178C>T (p.Asp1726=)
c.3488-4292C>T (n.3488-4292C>T)
c.4905C>T (p.Asp1635=)
c.4359C>T (p.Asp1453=)
c.4580-4292C>T (n.4580-4292C>T)
c.4086C>T (p.Asp1362=)
c.3761-4292C>T (n.3761-4292C>T)
c.3537C>T (p.Asp1179=)
c.5451C>T (p.Asp1817=)
c.5175C>T (p.Asp1725=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046633G>CCA374631329TNCc.318-4292C>G
c.3215-4292C>G (n.3215-4292C>G)
c.3813C>G (p.Asp1271Glu)
c.1845C>G (p.Asp615Glu)
c.501C>G (p.Asp167Glu)
c.3860C>G
c.4902C>G (p.Asp1634Glu)
c.4356C>G (p.Asp1452Glu)
c.4307-4292C>G (n.4307-4292C>G)
n.220C>G
n.253-4292C>G
n.40-4292C>G
c.589C>G
c.60C>G (p.Asp20Glu)
c.4629C>G (p.Asp1543Glu)
c.4034-4292C>G (n.4034-4292C>G)
c.3264C>G (p.Asp1088Glu)
c.5178C>G (p.Asp1726Glu)
c.3488-4292C>G (n.3488-4292C>G)
c.4905C>G (p.Asp1635Glu)
c.4359C>G (p.Asp1453Glu)
c.4580-4292C>G (n.4580-4292C>G)
c.4086C>G (p.Asp1362Glu)
c.3761-4292C>G (n.3761-4292C>G)
c.3537C>G (p.Asp1179Glu)
c.5451C>G (p.Asp1817Glu)
c.5175C>G (p.Asp1725Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115046633G=CA1874118949TNCc.318-4292C=
c.3215-4292C= (n.3215-4292C=)
c.3813C= (p.Asp1271=)
c.1845C= (p.Asp615=)
c.501C= (p.Asp167=)
c.3860C=
c.4902C= (p.Asp1634=)
c.4356C= (p.Asp1452=)
c.4307-4292C= (n.4307-4292C=)
n.220C=
n.253-4292C=
n.40-4292C=
c.589C=
c.60C= (p.Asp20=)
c.4629C= (p.Asp1543=)
c.4034-4292C= (n.4034-4292C=)
c.3264C= (p.Asp1088=)
c.5178C= (p.Asp1726=)
c.3488-4292C= (n.3488-4292C=)
c.4905C= (p.Asp1635=)
c.4359C= (p.Asp1453=)
c.4580-4292C= (n.4580-4292C=)
c.4086C= (p.Asp1362=)
c.3761-4292C= (n.3761-4292C=)
c.3537C= (p.Asp1179=)
c.5451C= (p.Asp1817=)
c.5175C= (p.Asp1725=)
9g.115046633G>TCA374631330TNCc.318-4292C>A
c.3215-4292C>A (n.3215-4292C>A)
c.3813C>A (p.Asp1271Glu)
c.1845C>A (p.Asp615Glu)
c.501C>A (p.Asp167Glu)
c.3860C>A
c.4902C>A (p.Asp1634Glu)
c.4356C>A (p.Asp1452Glu)
c.4307-4292C>A (n.4307-4292C>A)
n.220C>A
n.253-4292C>A
n.40-4292C>A
c.589C>A
c.60C>A (p.Asp20Glu)
c.4629C>A (p.Asp1543Glu)
c.4034-4292C>A (n.4034-4292C>A)
c.3264C>A (p.Asp1088Glu)
c.5178C>A (p.Asp1726Glu)
c.3488-4292C>A (n.3488-4292C>A)
c.4905C>A (p.Asp1635Glu)
c.4359C>A (p.Asp1453Glu)
c.4580-4292C>A (n.4580-4292C>A)
c.4086C>A (p.Asp1362Glu)
c.3761-4292C>A (n.3761-4292C>A)
c.3537C>A (p.Asp1179Glu)
c.5451C>A (p.Asp1817Glu)
c.5175C>A (p.Asp1725Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.115046634T>ACA374631332TNCc.318-4293A>T
c.3215-4293A>T (n.3215-4293A>T)
c.3812A>T (p.Asp1271Val)
c.1844A>T (p.Asp615Val)
c.500A>T (p.Asp167Val)
c.3859A>T
c.4901A>T (p.Asp1634Val)
c.4355A>T (p.Asp1452Val)
c.4307-4293A>T (n.4307-4293A>T)
n.219A>T
n.253-4293A>T
n.40-4293A>T
c.588A>T
c.59A>T (p.Asp20Val)
c.4628A>T (p.Asp1543Val)
c.4034-4293A>T (n.4034-4293A>T)
c.3263A>T (p.Asp1088Val)
c.5177A>T (p.Asp1726Val)
c.3488-4293A>T (n.3488-4293A>T)
c.4904A>T (p.Asp1635Val)
c.4358A>T (p.Asp1453Val)
c.4580-4293A>T (n.4580-4293A>T)
c.4085A>T (p.Asp1362Val)
c.3761-4293A>T (n.3761-4293A>T)
c.3536A>T (p.Asp1179Val)
c.5450A>T (p.Asp1817Val)
c.5174A>T (p.Asp1725Val)
9g.115046634T>CCA374631333TNCc.318-4293A>G
c.3215-4293A>G (n.3215-4293A>G)
c.3812A>G (p.Asp1271Gly)
c.1844A>G (p.Asp615Gly)
c.500A>G (p.Asp167Gly)
c.3859A>G
c.4901A>G (p.Asp1634Gly)
c.4355A>G (p.Asp1452Gly)
c.4307-4293A>G (n.4307-4293A>G)
n.219A>G
n.253-4293A>G
n.40-4293A>G
c.588A>G
c.59A>G (p.Asp20Gly)
c.4628A>G (p.Asp1543Gly)
c.4034-4293A>G (n.4034-4293A>G)
c.3263A>G (p.Asp1088Gly)
c.5177A>G (p.Asp1726Gly)
c.3488-4293A>G (n.3488-4293A>G)
c.4904A>G (p.Asp1635Gly)
c.4358A>G (p.Asp1453Gly)
c.4580-4293A>G (n.4580-4293A>G)
c.4085A>G (p.Asp1362Gly)
c.3761-4293A>G (n.3761-4293A>G)
c.3536A>G (p.Asp1179Gly)
c.5450A>G (p.Asp1817Gly)
c.5174A>G (p.Asp1725Gly)
9g.115046634T>GCA374631335TNCc.318-4293A>C
c.3215-4293A>C (n.3215-4293A>C)
c.3812A>C (p.Asp1271Ala)
c.1844A>C (p.Asp615Ala)
c.500A>C (p.Asp167Ala)
c.3859A>C
c.4901A>C (p.Asp1634Ala)
c.4355A>C (p.Asp1452Ala)
c.4307-4293A>C (n.4307-4293A>C)
n.219A>C
n.253-4293A>C
n.40-4293A>C
c.588A>C
c.59A>C (p.Asp20Ala)
c.4628A>C (p.Asp1543Ala)
c.4034-4293A>C (n.4034-4293A>C)
c.3263A>C (p.Asp1088Ala)
c.5177A>C (p.Asp1726Ala)
c.3488-4293A>C (n.3488-4293A>C)
c.4904A>C (p.Asp1635Ala)
c.4358A>C (p.Asp1453Ala)
c.4580-4293A>C (n.4580-4293A>C)
c.4085A>C (p.Asp1362Ala)
c.3761-4293A>C (n.3761-4293A>C)
c.3536A>C (p.Asp1179Ala)
c.5450A>C (p.Asp1817Ala)
c.5174A>C (p.Asp1725Ala)
9g.115046635C>ACA374631336TNCc.318-4294G>T
c.3215-4294G>T (n.3215-4294G>T)
c.3811G>T (p.Asp1271Tyr)
c.1843G>T (p.Asp615Tyr)
c.499G>T (p.Asp167Tyr)
c.3858G>T
c.4900G>T (p.Asp1634Tyr)
c.4354G>T (p.Asp1452Tyr)
c.4307-4294G>T (n.4307-4294G>T)
n.218G>T
n.253-4294G>T
n.40-4294G>T
c.587G>T
c.58G>T (p.Asp20Tyr)
c.4627G>T (p.Asp1543Tyr)
c.4034-4294G>T (n.4034-4294G>T)
c.3262G>T (p.Asp1088Tyr)
c.5176G>T (p.Asp1726Tyr)
c.3488-4294G>T (n.3488-4294G>T)
c.4903G>T (p.Asp1635Tyr)
c.4357G>T (p.Asp1453Tyr)
c.4580-4294G>T (n.4580-4294G>T)
c.4084G>T (p.Asp1362Tyr)
c.3761-4294G>T (n.3761-4294G>T)
c.3535G>T (p.Asp1179Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5173G>T (p.Asp1725Tyr)
 gnomAD v4
9g.115046635C>GCA374631337TNCc.318-4294G>C
c.3215-4294G>C (n.3215-4294G>C)
c.3811G>C (p.Asp1271His)
c.1843G>C (p.Asp615His)
c.499G>C (p.Asp167His)
c.3858G>C
c.4900G>C (p.Asp1634His)
c.4354G>C (p.Asp1452His)
c.4307-4294G>C (n.4307-4294G>C)
n.218G>C
n.253-4294G>C
n.40-4294G>C
c.587G>C
c.58G>C (p.Asp20His)
c.4627G>C (p.Asp1543His)
c.4034-4294G>C (n.4034-4294G>C)
c.3262G>C (p.Asp1088His)
c.5176G>C (p.Asp1726His)
c.3488-4294G>C (n.3488-4294G>C)
c.4903G>C (p.Asp1635His)
c.4357G>C (p.Asp1453His)
c.4580-4294G>C (n.4580-4294G>C)
c.4084G>C (p.Asp1362His)
c.3761-4294G>C (n.3761-4294G>C)
c.3535G>C (p.Asp1179His)
c.5449G>C (p.Asp1817His)
c.5173G>C (p.Asp1725His)
 gnomAD v4
9g.115046635C>TCA374631338TNCc.318-4294G>A
c.3215-4294G>A (n.3215-4294G>A)
c.3811G>A (p.Asp1271Asn)
c.1843G>A (p.Asp615Asn)
c.499G>A (p.Asp167Asn)
c.3858G>A
c.4900G>A (p.Asp1634Asn)
c.4354G>A (p.Asp1452Asn)
c.4307-4294G>A (n.4307-4294G>A)
n.218G>A
n.253-4294G>A
n.40-4294G>A
c.587G>A
c.58G>A (p.Asp20Asn)
c.4627G>A (p.Asp1543Asn)
c.4034-4294G>A (n.4034-4294G>A)
c.3262G>A (p.Asp1088Asn)
c.5176G>A (p.Asp1726Asn)
c.3488-4294G>A (n.3488-4294G>A)
c.4903G>A (p.Asp1635Asn)
c.4357G>A (p.Asp1453Asn)
c.4580-4294G>A (n.4580-4294G>A)
c.4084G>A (p.Asp1362Asn)
c.3761-4294G>A (n.3761-4294G>A)
c.3535G>A (p.Asp1179Asn)
c.5449G>A (p.Asp1817Asn)
c.5173G>A (p.Asp1725Asn)
9g.115046636T>ACA466912560TNCc.318-4295A>T
c.3215-4295A>T (n.3215-4295A>T)
c.3810A>T (p.Pro1270=)
c.1842A>T (p.Pro614=)
c.498A>T (p.Pro166=)
c.3857A>T
c.4899A>T (p.Pro1633=)
c.4353A>T (p.Pro1451=)
c.4307-4295A>T (n.4307-4295A>T)
n.217A>T
n.253-4295A>T
n.40-4295A>T
c.586A>T
c.57A>T (p.Pro19=)
c.4626A>T (p.Pro1542=)
c.4034-4295A>T (n.4034-4295A>T)
c.3261A>T (p.Pro1087=)
c.5175A>T (p.Pro1725=)
c.3488-4295A>T (n.3488-4295A>T)
c.4902A>T (p.Pro1634=)
c.4356A>T (p.Pro1452=)
c.4580-4295A>T (n.4580-4295A>T)
c.4083A>T (p.Pro1361=)
c.3761-4295A>T (n.3761-4295A>T)
c.3534A>T (p.Pro1178=)
c.5448A>T (p.Pro1816=)
c.5172A>T (p.Pro1724=)
9g.115046636T>CCA466912561TNCc.318-4295A>G
c.3215-4295A>G (n.3215-4295A>G)
c.3810A>G (p.Pro1270=)
c.1842A>G (p.Pro614=)
c.498A>G (p.Pro166=)
c.3857A>G
c.4899A>G (p.Pro1633=)
c.4353A>G (p.Pro1451=)
c.4307-4295A>G (n.4307-4295A>G)
n.217A>G
n.253-4295A>G
n.40-4295A>G
c.586A>G
c.57A>G (p.Pro19=)
c.4626A>G (p.Pro1542=)
c.4034-4295A>G (n.4034-4295A>G)
c.3261A>G (p.Pro1087=)
c.5175A>G (p.Pro1725=)
c.3488-4295A>G (n.3488-4295A>G)
c.4902A>G (p.Pro1634=)
c.4356A>G (p.Pro1452=)
c.4580-4295A>G (n.4580-4295A>G)
c.4083A>G (p.Pro1361=)
c.3761-4295A>G (n.3761-4295A>G)
c.3534A>G (p.Pro1178=)
c.5448A>G (p.Pro1816=)
c.5172A>G (p.Pro1724=)
 gnomAD v4
9g.115046636T>GCA466912562TNCc.318-4295A>C
c.3215-4295A>C (n.3215-4295A>C)
c.3810A>C (p.Pro1270=)
c.1842A>C (p.Pro614=)
c.498A>C (p.Pro166=)
c.3857A>C
c.4899A>C (p.Pro1633=)
c.4353A>C (p.Pro1451=)
c.4307-4295A>C (n.4307-4295A>C)
n.217A>C
n.253-4295A>C
n.40-4295A>C
c.586A>C
c.57A>C (p.Pro19=)
c.4626A>C (p.Pro1542=)
c.4034-4295A>C (n.4034-4295A>C)
c.3261A>C (p.Pro1087=)
c.5175A>C (p.Pro1725=)
c.3488-4295A>C (n.3488-4295A>C)
c.4902A>C (p.Pro1634=)
c.4356A>C (p.Pro1452=)
c.4580-4295A>C (n.4580-4295A>C)
c.4083A>C (p.Pro1361=)
c.3761-4295A>C (n.3761-4295A>C)
c.3534A>C (p.Pro1178=)
c.5448A>C (p.Pro1816=)
c.5172A>C (p.Pro1724=)
9g.115046637G>ACA374631340TNCc.318-4296C>T
c.3215-4296C>T (n.3215-4296C>T)
c.3809C>T (p.Pro1270Leu)
c.1841C>T (p.Pro614Leu)
c.497C>T (p.Pro166Leu)
c.3856C>T
c.4898C>T (p.Pro1633Leu)
c.4352C>T (p.Pro1451Leu)
c.4307-4296C>T (n.4307-4296C>T)
n.216C>T
n.253-4296C>T
n.40-4296C>T
c.585C>T
c.56C>T (p.Pro19Leu)
c.4625C>T (p.Pro1542Leu)
c.4034-4296C>T (n.4034-4296C>T)
c.3260C>T (p.Pro1087Leu)
c.5174C>T (p.Pro1725Leu)
c.3488-4296C>T (n.3488-4296C>T)
c.4901C>T (p.Pro1634Leu)
c.4355C>T (p.Pro1452Leu)
c.4580-4296C>T (n.4580-4296C>T)
c.4082C>T (p.Pro1361Leu)
c.3761-4296C>T (n.3761-4296C>T)
c.3533C>T (p.Pro1178Leu)
c.5447C>T (p.Pro1816Leu)
c.5171C>T (p.Pro1724Leu)
9g.115046637G>CCA374631342TNCc.318-4296C>G
c.3215-4296C>G (n.3215-4296C>G)
c.3809C>G (p.Pro1270Arg)
c.1841C>G (p.Pro614Arg)
c.497C>G (p.Pro166Arg)
c.3856C>G
c.4898C>G (p.Pro1633Arg)
c.4352C>G (p.Pro1451Arg)
c.4307-4296C>G (n.4307-4296C>G)
n.216C>G
n.253-4296C>G
n.40-4296C>G
c.585C>G
c.56C>G (p.Pro19Arg)
c.4625C>G (p.Pro1542Arg)
c.4034-4296C>G (n.4034-4296C>G)
c.3260C>G (p.Pro1087Arg)
c.5174C>G (p.Pro1725Arg)
c.3488-4296C>G (n.3488-4296C>G)
c.4901C>G (p.Pro1634Arg)
c.4355C>G (p.Pro1452Arg)
c.4580-4296C>G (n.4580-4296C>G)
c.4082C>G (p.Pro1361Arg)
c.3761-4296C>G (n.3761-4296C>G)
c.3533C>G (p.Pro1178Arg)
c.5447C>G (p.Pro1816Arg)
c.5171C>G (p.Pro1724Arg)
9g.115046637G=CA1874118950TNCc.318-4296C=
c.3215-4296C= (n.3215-4296C=)
c.3809C= (p.Pro1270=)
c.1841C= (p.Pro614=)
c.497C= (p.Pro166=)
c.3856C=
c.4898C= (p.Pro1633=)
c.4352C= (p.Pro1451=)
c.4307-4296C= (n.4307-4296C=)
n.216C=
n.253-4296C=
n.40-4296C=
c.585C=
c.56C= (p.Pro19=)
c.4625C= (p.Pro1542=)
c.4034-4296C= (n.4034-4296C=)
c.3260C= (p.Pro1087=)
c.5174C= (p.Pro1725=)
c.3488-4296C= (n.3488-4296C=)
c.4901C= (p.Pro1634=)
c.4355C= (p.Pro1452=)
c.4580-4296C= (n.4580-4296C=)
c.4082C= (p.Pro1361=)
c.3761-4296C= (n.3761-4296C=)
c.3533C= (p.Pro1178=)
c.5447C= (p.Pro1816=)
c.5171C= (p.Pro1724=)
9g.115046637G>TCA5207791TNCc.318-4296C>A
c.3215-4296C>A (n.3215-4296C>A)
c.3809C>A (p.Pro1270Gln)
c.1841C>A (p.Pro614Gln)
c.497C>A (p.Pro166Gln)
c.3856C>A
c.4898C>A (p.Pro1633Gln)
c.4352C>A (p.Pro1451Gln)
c.4307-4296C>A (n.4307-4296C>A)
n.216C>A
n.253-4296C>A
n.40-4296C>A
c.585C>A
c.56C>A (p.Pro19Gln)
c.4625C>A (p.Pro1542Gln)
c.4034-4296C>A (n.4034-4296C>A)
c.3260C>A (p.Pro1087Gln)
c.5174C>A (p.Pro1725Gln)
c.3488-4296C>A (n.3488-4296C>A)
c.4901C>A (p.Pro1634Gln)
c.4355C>A (p.Pro1452Gln)
c.4580-4296C>A (n.4580-4296C>A)
c.4082C>A (p.Pro1361Gln)
c.3761-4296C>A (n.3761-4296C>A)
c.3533C>A (p.Pro1178Gln)
c.5447C>A (p.Pro1816Gln)
c.5171C>A (p.Pro1724Gln)
 dbSNP ExAC gnomAD v2
9g.115046638G>ACA374631346TNCc.318-4297C>T
c.3215-4297C>T (n.3215-4297C>T)
c.3808C>T (p.Pro1270Ser)
c.1840C>T (p.Pro614Ser)
c.496C>T (p.Pro166Ser)
c.3855C>T
c.4897C>T (p.Pro1633Ser)
c.4351C>T (p.Pro1451Ser)
c.4307-4297C>T (n.4307-4297C>T)
n.215C>T
n.253-4297C>T
n.40-4297C>T
c.584C>T
c.55C>T (p.Pro19Ser)
c.4624C>T (p.Pro1542Ser)
c.4034-4297C>T (n.4034-4297C>T)
c.3259C>T (p.Pro1087Ser)
c.5173C>T (p.Pro1725Ser)
c.3488-4297C>T (n.3488-4297C>T)
c.4900C>T (p.Pro1634Ser)
c.4354C>T (p.Pro1452Ser)
c.4580-4297C>T (n.4580-4297C>T)
c.4081C>T (p.Pro1361Ser)
c.3761-4297C>T (n.3761-4297C>T)
c.3532C>T (p.Pro1178Ser)
c.5446C>T (p.Pro1816Ser)
c.5170C>T (p.Pro1724Ser)
9g.115046638G>CCA374631345TNCc.318-4297C>G
c.3215-4297C>G (n.3215-4297C>G)
c.3808C>G (p.Pro1270Ala)
c.1840C>G (p.Pro614Ala)
c.496C>G (p.Pro166Ala)
c.3855C>G
c.4897C>G (p.Pro1633Ala)
c.4351C>G (p.Pro1451Ala)
c.4307-4297C>G (n.4307-4297C>G)
n.215C>G
n.253-4297C>G
n.40-4297C>G
c.584C>G
c.55C>G (p.Pro19Ala)
c.4624C>G (p.Pro1542Ala)
c.4034-4297C>G (n.4034-4297C>G)
c.3259C>G (p.Pro1087Ala)
c.5173C>G (p.Pro1725Ala)
c.3488-4297C>G (n.3488-4297C>G)
c.4900C>G (p.Pro1634Ala)
c.4354C>G (p.Pro1452Ala)
c.4580-4297C>G (n.4580-4297C>G)
c.4081C>G (p.Pro1361Ala)
c.3761-4297C>G (n.3761-4297C>G)
c.3532C>G (p.Pro1178Ala)
c.5446C>G (p.Pro1816Ala)
c.5170C>G (p.Pro1724Ala)
9g.115046638G>TCA374631344TNCc.318-4297C>A
c.3215-4297C>A (n.3215-4297C>A)
c.3808C>A (p.Pro1270Thr)
c.1840C>A (p.Pro614Thr)
c.496C>A (p.Pro166Thr)
c.3855C>A
c.4897C>A (p.Pro1633Thr)
c.4351C>A (p.Pro1451Thr)
c.4307-4297C>A (n.4307-4297C>A)
n.215C>A
n.253-4297C>A
n.40-4297C>A
c.584C>A
c.55C>A (p.Pro19Thr)
c.4624C>A (p.Pro1542Thr)
c.4034-4297C>A (n.4034-4297C>A)
c.3259C>A (p.Pro1087Thr)
c.5173C>A (p.Pro1725Thr)
c.3488-4297C>A (n.3488-4297C>A)
c.4900C>A (p.Pro1634Thr)
c.4354C>A (p.Pro1452Thr)
c.4580-4297C>A (n.4580-4297C>A)
c.4081C>A (p.Pro1361Thr)
c.3761-4297C>A (n.3761-4297C>A)
c.3532C>A (p.Pro1178Thr)
c.5446C>A (p.Pro1816Thr)
c.5170C>A (p.Pro1724Thr)
 COSMIC
9g.115046639G>ACA466912563TNCc.318-4298C>T
c.3215-4298C>T (n.3215-4298C>T)
c.3807C>T (p.Thr1269=)
c.1839C>T (p.Thr613=)
c.495C>T (p.Thr165=)
c.3854C>T
c.4896C>T (p.Thr1632=)
c.4350C>T (p.Thr1450=)
c.4307-4298C>T (n.4307-4298C>T)
n.214C>T
n.253-4298C>T
n.40-4298C>T
c.583C>T
c.54C>T (p.Thr18=)
c.4623C>T (p.Thr1541=)
c.4034-4298C>T (n.4034-4298C>T)
c.3258C>T (p.Thr1086=)
c.5172C>T (p.Thr1724=)
c.3488-4298C>T (n.3488-4298C>T)
c.4899C>T (p.Thr1633=)
c.4353C>T (p.Thr1451=)
c.4580-4298C>T (n.4580-4298C>T)
c.4080C>T (p.Thr1360=)
c.3761-4298C>T (n.3761-4298C>T)
c.3531C>T (p.Thr1177=)
c.5445C>T (p.Thr1815=)
c.5169C>T (p.Thr1723=)
 dbSNP gnomAD v3 gnomAD v4
9g.115046639G>CCA466912564TNCc.318-4298C>G
c.3215-4298C>G (n.3215-4298C>G)
c.3807C>G (p.Thr1269=)
c.1839C>G (p.Thr613=)
c.495C>G (p.Thr165=)
c.3854C>G
c.4896C>G (p.Thr1632=)
c.4350C>G (p.Thr1450=)
c.4307-4298C>G (n.4307-4298C>G)
n.214C>G
n.253-4298C>G
n.40-4298C>G
c.583C>G
c.54C>G (p.Thr18=)
c.4623C>G (p.Thr1541=)
c.4034-4298C>G (n.4034-4298C>G)
c.3258C>G (p.Thr1086=)
c.5172C>G (p.Thr1724=)
c.3488-4298C>G (n.3488-4298C>G)
c.4899C>G (p.Thr1633=)
c.4353C>G (p.Thr1451=)
c.4580-4298C>G (n.4580-4298C>G)
c.4080C>G (p.Thr1360=)
c.3761-4298C>G (n.3761-4298C>G)
c.3531C>G (p.Thr1177=)
c.5445C>G (p.Thr1815=)
c.5169C>G (p.Thr1723=)
9g.115046639G=CA1874118951TNCc.318-4298C=
c.3215-4298C= (n.3215-4298C=)
c.3807C= (p.Thr1269=)
c.1839C= (p.Thr613=)
c.495C= (p.Thr165=)
c.3854C=
c.4896C= (p.Thr1632=)
c.4350C= (p.Thr1450=)
c.4307-4298C= (n.4307-4298C=)
n.214C=
n.253-4298C=
n.40-4298C=
c.583C=
c.54C= (p.Thr18=)
c.4623C= (p.Thr1541=)
c.4034-4298C= (n.4034-4298C=)
c.3258C= (p.Thr1086=)
c.5172C= (p.Thr1724=)
c.3488-4298C= (n.3488-4298C=)
c.4899C= (p.Thr1633=)
c.4353C= (p.Thr1451=)
c.4580-4298C= (n.4580-4298C=)
c.4080C= (p.Thr1360=)
c.3761-4298C= (n.3761-4298C=)
c.3531C= (p.Thr1177=)
c.5445C= (p.Thr1815=)
c.5169C= (p.Thr1723=)
9g.115046639G>TCA466912565TNCc.318-4298C>A
c.3215-4298C>A (n.3215-4298C>A)
c.3807C>A (p.Thr1269=)
c.1839C>A (p.Thr613=)
c.495C>A (p.Thr165=)
c.3854C>A
c.4896C>A (p.Thr1632=)
c.4350C>A (p.Thr1450=)
c.4307-4298C>A (n.4307-4298C>A)
n.214C>A
n.253-4298C>A
n.40-4298C>A
c.583C>A
c.54C>A (p.Thr18=)
c.4623C>A (p.Thr1541=)
c.4034-4298C>A (n.4034-4298C>A)
c.3258C>A (p.Thr1086=)
c.5172C>A (p.Thr1724=)
c.3488-4298C>A (n.3488-4298C>A)
c.4899C>A (p.Thr1633=)
c.4353C>A (p.Thr1451=)
c.4580-4298C>A (n.4580-4298C>A)
c.4080C>A (p.Thr1360=)
c.3761-4298C>A (n.3761-4298C>A)
c.3531C>A (p.Thr1177=)
c.5445C>A (p.Thr1815=)
c.5169C>A (p.Thr1723=)
9g.115046640G>ACA374631349TNCc.318-4299C>T
c.3215-4299C>T (n.3215-4299C>T)
c.3806C>T (p.Thr1269Ile)
c.1838C>T (p.Thr613Ile)
c.494C>T (p.Thr165Ile)
c.3853C>T
c.4895C>T (p.Thr1632Ile)
c.4349C>T (p.Thr1450Ile)
c.4307-4299C>T (n.4307-4299C>T)
n.213C>T
n.253-4299C>T
n.40-4299C>T
c.582C>T
c.53C>T (p.Thr18Ile)
c.4622C>T (p.Thr1541Ile)
c.4034-4299C>T (n.4034-4299C>T)
c.3257C>T (p.Thr1086Ile)
c.5171C>T (p.Thr1724Ile)
c.3488-4299C>T (n.3488-4299C>T)
c.4898C>T (p.Thr1633Ile)
c.4352C>T (p.Thr1451Ile)
c.4580-4299C>T (n.4580-4299C>T)
c.4079C>T (p.Thr1360Ile)
c.3761-4299C>T (n.3761-4299C>T)
c.3530C>T (p.Thr1177Ile)
c.5444C>T (p.Thr1815Ile)
c.5168C>T (p.Thr1723Ile)
 gnomAD v4
9g.115046640G>CCA374631347TNCc.318-4299C>G
c.3215-4299C>G (n.3215-4299C>G)
c.3806C>G (p.Thr1269Ser)
c.1838C>G (p.Thr613Ser)
c.494C>G (p.Thr165Ser)
c.3853C>G
c.4895C>G (p.Thr1632Ser)
c.4349C>G (p.Thr1450Ser)
c.4307-4299C>G (n.4307-4299C>G)
n.213C>G
n.253-4299C>G
n.40-4299C>G
c.582C>G
c.53C>G (p.Thr18Ser)
c.4622C>G (p.Thr1541Ser)
c.4034-4299C>G (n.4034-4299C>G)
c.3257C>G (p.Thr1086Ser)
c.5171C>G (p.Thr1724Ser)
c.3488-4299C>G (n.3488-4299C>G)
c.4898C>G (p.Thr1633Ser)
c.4352C>G (p.Thr1451Ser)
c.4580-4299C>G (n.4580-4299C>G)
c.4079C>G (p.Thr1360Ser)
c.3761-4299C>G (n.3761-4299C>G)
c.3530C>G (p.Thr1177Ser)
c.5444C>G (p.Thr1815Ser)
c.5168C>G (p.Thr1723Ser)
9g.115046640G=CA1874118952TNCc.318-4299C=
c.3215-4299C= (n.3215-4299C=)
c.3806C= (p.Thr1269=)
c.1838C= (p.Thr613=)
c.494C= (p.Thr165=)
c.3853C=
c.4895C= (p.Thr1632=)
c.4349C= (p.Thr1450=)
c.4307-4299C= (n.4307-4299C=)
n.213C=
n.253-4299C=
n.40-4299C=
c.582C=
c.53C= (p.Thr18=)
c.4622C= (p.Thr1541=)
c.4034-4299C= (n.4034-4299C=)
c.3257C= (p.Thr1086=)
c.5171C= (p.Thr1724=)
c.3488-4299C= (n.3488-4299C=)
c.4898C= (p.Thr1633=)
c.4352C= (p.Thr1451=)
c.4580-4299C= (n.4580-4299C=)
c.4079C= (p.Thr1360=)
c.3761-4299C= (n.3761-4299C=)
c.3530C= (p.Thr1177=)
c.5444C= (p.Thr1815=)
c.5168C= (p.Thr1723=)
9g.115046640G>TCA198692742TNCc.318-4299C>A
c.3215-4299C>A (n.3215-4299C>A)
c.3806C>A (p.Thr1269Asn)
c.1838C>A (p.Thr613Asn)
c.494C>A (p.Thr165Asn)
c.3853C>A
c.4895C>A (p.Thr1632Asn)
c.4349C>A (p.Thr1450Asn)
c.4307-4299C>A (n.4307-4299C>A)
n.213C>A
n.253-4299C>A
n.40-4299C>A
c.582C>A
c.53C>A (p.Thr18Asn)
c.4622C>A (p.Thr1541Asn)
c.4034-4299C>A (n.4034-4299C>A)
c.3257C>A (p.Thr1086Asn)
c.5171C>A (p.Thr1724Asn)
c.3488-4299C>A (n.3488-4299C>A)
c.4898C>A (p.Thr1633Asn)
c.4352C>A (p.Thr1451Asn)
c.4580-4299C>A (n.4580-4299C>A)
c.4079C>A (p.Thr1360Asn)
c.3761-4299C>A (n.3761-4299C>A)
c.3530C>A (p.Thr1177Asn)
c.5444C>A (p.Thr1815Asn)
c.5168C>A (p.Thr1723Asn)
 dbSNP
9g.115046641T>ACA374631350TNCc.318-4300A>T
c.3215-4300A>T (n.3215-4300A>T)
c.3805A>T (p.Thr1269Ser)
c.1837A>T (p.Thr613Ser)
c.493A>T (p.Thr165Ser)
c.3852A>T
c.4894A>T (p.Thr1632Ser)
c.4348A>T (p.Thr1450Ser)
c.4307-4300A>T (n.4307-4300A>T)
n.212A>T
n.253-4300A>T
n.40-4300A>T
c.581A>T
c.52A>T (p.Thr18Ser)
c.4621A>T (p.Thr1541Ser)
c.4034-4300A>T (n.4034-4300A>T)
c.3256A>T (p.Thr1086Ser)
c.5170A>T (p.Thr1724Ser)
c.3488-4300A>T (n.3488-4300A>T)
c.4897A>T (p.Thr1633Ser)
c.4351A>T (p.Thr1451Ser)
c.4580-4300A>T (n.4580-4300A>T)
c.4078A>T (p.Thr1360Ser)
c.3761-4300A>T (n.3761-4300A>T)
c.3529A>T (p.Thr1177Ser)
c.5443A>T (p.Thr1815Ser)
c.5167A>T (p.Thr1723Ser)
9g.115046641T>CCA374631352TNCc.318-4300A>G
c.3215-4300A>G (n.3215-4300A>G)
c.3805A>G (p.Thr1269Ala)
c.1837A>G (p.Thr613Ala)
c.493A>G (p.Thr165Ala)
c.3852A>G
c.4894A>G (p.Thr1632Ala)
c.4348A>G (p.Thr1450Ala)
c.4307-4300A>G (n.4307-4300A>G)
n.212A>G
n.253-4300A>G
n.40-4300A>G
c.581A>G
c.52A>G (p.Thr18Ala)
c.4621A>G (p.Thr1541Ala)
c.4034-4300A>G (n.4034-4300A>G)
c.3256A>G (p.Thr1086Ala)
c.5170A>G (p.Thr1724Ala)
c.3488-4300A>G (n.3488-4300A>G)
c.4897A>G (p.Thr1633Ala)
c.4351A>G (p.Thr1451Ala)
c.4580-4300A>G (n.4580-4300A>G)
c.4078A>G (p.Thr1360Ala)
c.3761-4300A>G (n.3761-4300A>G)
c.3529A>G (p.Thr1177Ala)
c.5443A>G (p.Thr1815Ala)
c.5167A>G (p.Thr1723Ala)
9g.115046641T>GCA374631353TNCc.318-4300A>C
c.3215-4300A>C (n.3215-4300A>C)
c.3805A>C (p.Thr1269Pro)
c.1837A>C (p.Thr613Pro)
c.493A>C (p.Thr165Pro)
c.3852A>C
c.4894A>C (p.Thr1632Pro)
c.4348A>C (p.Thr1450Pro)
c.4307-4300A>C (n.4307-4300A>C)
n.212A>C
n.253-4300A>C
n.40-4300A>C
c.581A>C
c.52A>C (p.Thr18Pro)
c.4621A>C (p.Thr1541Pro)
c.4034-4300A>C (n.4034-4300A>C)
c.3256A>C (p.Thr1086Pro)
c.5170A>C (p.Thr1724Pro)
c.3488-4300A>C (n.3488-4300A>C)
c.4897A>C (p.Thr1633Pro)
c.4351A>C (p.Thr1451Pro)
c.4580-4300A>C (n.4580-4300A>C)
c.4078A>C (p.Thr1360Pro)
c.3761-4300A>C (n.3761-4300A>C)
c.3529A>C (p.Thr1177Pro)
c.5443A>C (p.Thr1815Pro)
c.5167A>C (p.Thr1723Pro)
 dbSNP
9g.115046641T=CA1874118953TNCc.318-4300A=
c.3215-4300A= (n.3215-4300A=)
c.3805A= (p.Thr1269=)
c.1837A= (p.Thr613=)
c.493A= (p.Thr165=)
c.3852A=
c.4894A= (p.Thr1632=)
c.4348A= (p.Thr1450=)
c.4307-4300A= (n.4307-4300A=)
n.212A=
n.253-4300A=
n.40-4300A=
c.581A=
c.52A= (p.Thr18=)
c.4621A= (p.Thr1541=)
c.4034-4300A= (n.4034-4300A=)
c.3256A= (p.Thr1086=)
c.5170A= (p.Thr1724=)
c.3488-4300A= (n.3488-4300A=)
c.4897A= (p.Thr1633=)
c.4351A= (p.Thr1451=)
c.4580-4300A= (n.4580-4300A=)
c.4078A= (p.Thr1360=)
c.3761-4300A= (n.3761-4300A=)
c.3529A= (p.Thr1177=)
c.5443A= (p.Thr1815=)
c.5167A= (p.Thr1723=)
9g.115046642G>ACA5207792TNCc.318-4301C>T
c.3215-4301C>T (n.3215-4301C>T)
c.3804C>T (p.Ala1268=)
c.1836C>T (p.Ala612=)
c.492C>T (p.Ala164=)
c.3851C>T
c.4893C>T (p.Ala1631=)
c.4347C>T (p.Ala1449=)
c.4307-4301C>T (n.4307-4301C>T)
n.211C>T
n.253-4301C>T
n.40-4301C>T
c.580C>T
c.51C>T (p.Ala17=)
c.4620C>T (p.Ala1540=)
c.4034-4301C>T (n.4034-4301C>T)
c.3255C>T (p.Ala1085=)
c.5169C>T (p.Ala1723=)
c.3488-4301C>T (n.3488-4301C>T)
c.4896C>T (p.Ala1632=)
c.4350C>T (p.Ala1450=)
c.4580-4301C>T (n.4580-4301C>T)
c.4077C>T (p.Ala1359=)
c.3761-4301C>T (n.3761-4301C>T)
c.3528C>T (p.Ala1176=)
c.5442C>T (p.Ala1814=)
c.5166C>T (p.Ala1722=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046642G>CCA466912219TNCc.318-4301C>G
c.3215-4301C>G (n.3215-4301C>G)
c.3804C>G (p.Ala1268=)
c.1836C>G (p.Ala612=)
c.492C>G (p.Ala164=)
c.3851C>G
c.4893C>G (p.Ala1631=)
c.4347C>G (p.Ala1449=)
c.4307-4301C>G (n.4307-4301C>G)
n.211C>G
n.253-4301C>G
n.40-4301C>G
c.580C>G
c.51C>G (p.Ala17=)
c.4620C>G (p.Ala1540=)
c.4034-4301C>G (n.4034-4301C>G)
c.3255C>G (p.Ala1085=)
c.5169C>G (p.Ala1723=)
c.3488-4301C>G (n.3488-4301C>G)
c.4896C>G (p.Ala1632=)
c.4350C>G (p.Ala1450=)
c.4580-4301C>G (n.4580-4301C>G)
c.4077C>G (p.Ala1359=)
c.3761-4301C>G (n.3761-4301C>G)
c.3528C>G (p.Ala1176=)
c.5442C>G (p.Ala1814=)
c.5166C>G (p.Ala1722=)
9g.115046642G=CA1874118954TNCc.318-4301C=
c.3215-4301C= (n.3215-4301C=)
c.3804C= (p.Ala1268=)
c.1836C= (p.Ala612=)
c.492C= (p.Ala164=)
c.3851C=
c.4893C= (p.Ala1631=)
c.4347C= (p.Ala1449=)
c.4307-4301C= (n.4307-4301C=)
n.211C=
n.253-4301C=
n.40-4301C=
c.580C=
c.51C= (p.Ala17=)
c.4620C= (p.Ala1540=)
c.4034-4301C= (n.4034-4301C=)
c.3255C= (p.Ala1085=)
c.5169C= (p.Ala1723=)
c.3488-4301C= (n.3488-4301C=)
c.4896C= (p.Ala1632=)
c.4350C= (p.Ala1450=)
c.4580-4301C= (n.4580-4301C=)
c.4077C= (p.Ala1359=)
c.3761-4301C= (n.3761-4301C=)
c.3528C= (p.Ala1176=)
c.5442C= (p.Ala1814=)
c.5166C= (p.Ala1722=)
9g.115046642G>TCA466912220TNCc.318-4301C>A
c.3215-4301C>A (n.3215-4301C>A)
c.3804C>A (p.Ala1268=)
c.1836C>A (p.Ala612=)
c.492C>A (p.Ala164=)
c.3851C>A
c.4893C>A (p.Ala1631=)
c.4347C>A (p.Ala1449=)
c.4307-4301C>A (n.4307-4301C>A)
n.211C>A
n.253-4301C>A
n.40-4301C>A
c.580C>A
c.51C>A (p.Ala17=)
c.4620C>A (p.Ala1540=)
c.4034-4301C>A (n.4034-4301C>A)
c.3255C>A (p.Ala1085=)
c.5169C>A (p.Ala1723=)
c.3488-4301C>A (n.3488-4301C>A)
c.4896C>A (p.Ala1632=)
c.4350C>A (p.Ala1450=)
c.4580-4301C>A (n.4580-4301C>A)
c.4077C>A (p.Ala1359=)
c.3761-4301C>A (n.3761-4301C>A)
c.3528C>A (p.Ala1176=)
c.5442C>A (p.Ala1814=)
c.5166C>A (p.Ala1722=)
9g.115046643G>ACA374631358TNCc.318-4302C>T
c.3215-4302C>T (n.3215-4302C>T)
c.3803C>T (p.Ala1268Val)
c.1835C>T (p.Ala612Val)
c.491C>T (p.Ala164Val)
c.3850C>T
c.4892C>T (p.Ala1631Val)
c.4346C>T (p.Ala1449Val)
c.4307-4302C>T (n.4307-4302C>T)
n.210C>T
n.253-4302C>T
n.40-4302C>T
c.579C>T
c.50C>T (p.Ala17Val)
c.4619C>T (p.Ala1540Val)
c.4034-4302C>T (n.4034-4302C>T)
c.3254C>T (p.Ala1085Val)
c.5168C>T (p.Ala1723Val)
c.3488-4302C>T (n.3488-4302C>T)
c.4895C>T (p.Ala1632Val)
c.4349C>T (p.Ala1450Val)
c.4580-4302C>T (n.4580-4302C>T)
c.4076C>T (p.Ala1359Val)
c.3761-4302C>T (n.3761-4302C>T)
c.3527C>T (p.Ala1176Val)
c.5441C>T (p.Ala1814Val)
c.5165C>T (p.Ala1722Val)
 dbSNP gnomAD v3 gnomAD v4
9g.115046643G>CCA374631355TNCc.318-4302C>G
c.3215-4302C>G (n.3215-4302C>G)
c.3803C>G (p.Ala1268Gly)
c.1835C>G (p.Ala612Gly)
c.491C>G (p.Ala164Gly)
c.3850C>G
c.4892C>G (p.Ala1631Gly)
c.4346C>G (p.Ala1449Gly)
c.4307-4302C>G (n.4307-4302C>G)
n.210C>G
n.253-4302C>G
n.40-4302C>G
c.579C>G
c.50C>G (p.Ala17Gly)
c.4619C>G (p.Ala1540Gly)
c.4034-4302C>G (n.4034-4302C>G)
c.3254C>G (p.Ala1085Gly)
c.5168C>G (p.Ala1723Gly)
c.3488-4302C>G (n.3488-4302C>G)
c.4895C>G (p.Ala1632Gly)
c.4349C>G (p.Ala1450Gly)
c.4580-4302C>G (n.4580-4302C>G)
c.4076C>G (p.Ala1359Gly)
c.3761-4302C>G (n.3761-4302C>G)
c.3527C>G (p.Ala1176Gly)
c.5441C>G (p.Ala1814Gly)
c.5165C>G (p.Ala1722Gly)
9g.115046643G=CA1874118955TNCc.318-4302C=
c.3215-4302C= (n.3215-4302C=)
c.3803C= (p.Ala1268=)
c.1835C= (p.Ala612=)
c.491C= (p.Ala164=)
c.3850C=
c.4892C= (p.Ala1631=)
c.4346C= (p.Ala1449=)
c.4307-4302C= (n.4307-4302C=)
n.210C=
n.253-4302C=
n.40-4302C=
c.579C=
c.50C= (p.Ala17=)
c.4619C= (p.Ala1540=)
c.4034-4302C= (n.4034-4302C=)
c.3254C= (p.Ala1085=)
c.5168C= (p.Ala1723=)
c.3488-4302C= (n.3488-4302C=)
c.4895C= (p.Ala1632=)
c.4349C= (p.Ala1450=)
c.4580-4302C= (n.4580-4302C=)
c.4076C= (p.Ala1359=)
c.3761-4302C= (n.3761-4302C=)
c.3527C= (p.Ala1176=)
c.5441C= (p.Ala1814=)
c.5165C= (p.Ala1722=)
9g.115046643G>TCA374631357TNCc.318-4302C>A
c.3215-4302C>A (n.3215-4302C>A)
c.3803C>A (p.Ala1268Asp)
c.1835C>A (p.Ala612Asp)
c.491C>A (p.Ala164Asp)
c.3850C>A
c.4892C>A (p.Ala1631Asp)
c.4346C>A (p.Ala1449Asp)
c.4307-4302C>A (n.4307-4302C>A)
n.210C>A
n.253-4302C>A
n.40-4302C>A
c.579C>A
c.50C>A (p.Ala17Asp)
c.4619C>A (p.Ala1540Asp)
c.4034-4302C>A (n.4034-4302C>A)
c.3254C>A (p.Ala1085Asp)
c.5168C>A (p.Ala1723Asp)
c.3488-4302C>A (n.3488-4302C>A)
c.4895C>A (p.Ala1632Asp)
c.4349C>A (p.Ala1450Asp)
c.4580-4302C>A (n.4580-4302C>A)
c.4076C>A (p.Ala1359Asp)
c.3761-4302C>A (n.3761-4302C>A)
c.3527C>A (p.Ala1176Asp)
c.5441C>A (p.Ala1814Asp)
c.5165C>A (p.Ala1722Asp)
9g.115046644C>ACA374631360TNCc.318-4303G>T
c.3215-4303G>T (n.3215-4303G>T)
c.3802G>T (p.Ala1268Ser)
c.1834G>T (p.Ala612Ser)
c.490G>T (p.Ala164Ser)
c.3849G>T
c.4891G>T (p.Ala1631Ser)
c.4345G>T (p.Ala1449Ser)
c.4307-4303G>T (n.4307-4303G>T)
n.209G>T
n.253-4303G>T
n.40-4303G>T
c.578G>T
c.49G>T (p.Ala17Ser)
c.4618G>T (p.Ala1540Ser)
c.4034-4303G>T (n.4034-4303G>T)
c.3253G>T (p.Ala1085Ser)
c.5167G>T (p.Ala1723Ser)
c.3488-4303G>T (n.3488-4303G>T)
c.4894G>T (p.Ala1632Ser)
c.4348G>T (p.Ala1450Ser)
c.4580-4303G>T (n.4580-4303G>T)
c.4075G>T (p.Ala1359Ser)
c.3761-4303G>T (n.3761-4303G>T)
c.3526G>T (p.Ala1176Ser)
c.5440G>T (p.Ala1814Ser)
c.5164G>T (p.Ala1722Ser)
9g.115046644C>GCA374631361TNCc.318-4303G>C
c.3215-4303G>C (n.3215-4303G>C)
c.3802G>C (p.Ala1268Pro)
c.1834G>C (p.Ala612Pro)
c.490G>C (p.Ala164Pro)
c.3849G>C
c.4891G>C (p.Ala1631Pro)
c.4345G>C (p.Ala1449Pro)
c.4307-4303G>C (n.4307-4303G>C)
n.209G>C
n.253-4303G>C
n.40-4303G>C
c.578G>C
c.49G>C (p.Ala17Pro)
c.4618G>C (p.Ala1540Pro)
c.4034-4303G>C (n.4034-4303G>C)
c.3253G>C (p.Ala1085Pro)
c.5167G>C (p.Ala1723Pro)
c.3488-4303G>C (n.3488-4303G>C)
c.4894G>C (p.Ala1632Pro)
c.4348G>C (p.Ala1450Pro)
c.4580-4303G>C (n.4580-4303G>C)
c.4075G>C (p.Ala1359Pro)
c.3761-4303G>C (n.3761-4303G>C)
c.3526G>C (p.Ala1176Pro)
c.5440G>C (p.Ala1814Pro)
c.5164G>C (p.Ala1722Pro)
9g.115046644C>TCA374631363TNCc.318-4303G>A
c.3215-4303G>A (n.3215-4303G>A)
c.3802G>A (p.Ala1268Thr)
c.1834G>A (p.Ala612Thr)
c.490G>A (p.Ala164Thr)
c.3849G>A
c.4891G>A (p.Ala1631Thr)
c.4345G>A (p.Ala1449Thr)
c.4307-4303G>A (n.4307-4303G>A)
n.209G>A
n.253-4303G>A
n.40-4303G>A
c.578G>A
c.49G>A (p.Ala17Thr)
c.4618G>A (p.Ala1540Thr)
c.4034-4303G>A (n.4034-4303G>A)
c.3253G>A (p.Ala1085Thr)
c.5167G>A (p.Ala1723Thr)
c.3488-4303G>A (n.3488-4303G>A)
c.4894G>A (p.Ala1632Thr)
c.4348G>A (p.Ala1450Thr)
c.4580-4303G>A (n.4580-4303G>A)
c.4075G>A (p.Ala1359Thr)
c.3761-4303G>A (n.3761-4303G>A)
c.3526G>A (p.Ala1176Thr)
c.5440G>A (p.Ala1814Thr)
c.5164G>A (p.Ala1722Thr)
9g.115046645A=CA1874118956TNCc.318-4304T=
c.3215-4304T= (n.3215-4304T=)
c.3801T= (p.Asp1267=)
c.1833T= (p.Asp611=)
c.489T= (p.Asp163=)
c.3848T=
c.4890T= (p.Asp1630=)
c.4344T= (p.Asp1448=)
c.4307-4304T= (n.4307-4304T=)
n.208T=
n.253-4304T=
n.40-4304T=
c.577T=
c.48T= (p.Asp16=)
c.4617T= (p.Asp1539=)
c.4034-4304T= (n.4034-4304T=)
c.3252T= (p.Asp1084=)
c.5166T= (p.Asp1722=)
c.3488-4304T= (n.3488-4304T=)
c.4893T= (p.Asp1631=)
c.4347T= (p.Asp1449=)
c.4580-4304T= (n.4580-4304T=)
c.4074T= (p.Asp1358=)
c.3761-4304T= (n.3761-4304T=)
c.3525T= (p.Asp1175=)
c.5439T= (p.Asp1813=)
c.5163T= (p.Asp1721=)
9g.115046645A>CCA5207793TNCc.318-4304T>G
c.3215-4304T>G (n.3215-4304T>G)
c.3801T>G (p.Asp1267Glu)
c.1833T>G (p.Asp611Glu)
c.489T>G (p.Asp163Glu)
c.3848T>G
c.4890T>G (p.Asp1630Glu)
c.4344T>G (p.Asp1448Glu)
c.4307-4304T>G (n.4307-4304T>G)
n.208T>G
n.253-4304T>G
n.40-4304T>G
c.577T>G
c.48T>G (p.Asp16Glu)
c.4617T>G (p.Asp1539Glu)
c.4034-4304T>G (n.4034-4304T>G)
c.3252T>G (p.Asp1084Glu)
c.5166T>G (p.Asp1722Glu)
c.3488-4304T>G (n.3488-4304T>G)
c.4893T>G (p.Asp1631Glu)
c.4347T>G (p.Asp1449Glu)
c.4580-4304T>G (n.4580-4304T>G)
c.4074T>G (p.Asp1358Glu)
c.3761-4304T>G (n.3761-4304T>G)
c.3525T>G (p.Asp1175Glu)
c.5439T>G (p.Asp1813Glu)
c.5163T>G (p.Asp1721Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046645A>GCA466912224TNCc.318-4304T>C
c.3215-4304T>C (n.3215-4304T>C)
c.3801T>C (p.Asp1267=)
c.1833T>C (p.Asp611=)
c.489T>C (p.Asp163=)
c.3848T>C
c.4890T>C (p.Asp1630=)
c.4344T>C (p.Asp1448=)
c.4307-4304T>C (n.4307-4304T>C)
n.208T>C
n.253-4304T>C
n.40-4304T>C
c.577T>C
c.48T>C (p.Asp16=)
c.4617T>C (p.Asp1539=)
c.4034-4304T>C (n.4034-4304T>C)
c.3252T>C (p.Asp1084=)
c.5166T>C (p.Asp1722=)
c.3488-4304T>C (n.3488-4304T>C)
c.4893T>C (p.Asp1631=)
c.4347T>C (p.Asp1449=)
c.4580-4304T>C (n.4580-4304T>C)
c.4074T>C (p.Asp1358=)
c.3761-4304T>C (n.3761-4304T>C)
c.3525T>C (p.Asp1175=)
c.5439T>C (p.Asp1813=)
c.5163T>C (p.Asp1721=)
9g.115046645A>TCA374631366TNCc.318-4304T>A
c.3215-4304T>A (n.3215-4304T>A)
c.3801T>A (p.Asp1267Glu)
c.1833T>A (p.Asp611Glu)
c.489T>A (p.Asp163Glu)
c.3848T>A
c.4890T>A (p.Asp1630Glu)
c.4344T>A (p.Asp1448Glu)
c.4307-4304T>A (n.4307-4304T>A)
n.208T>A
n.253-4304T>A
n.40-4304T>A
c.577T>A
c.48T>A (p.Asp16Glu)
c.4617T>A (p.Asp1539Glu)
c.4034-4304T>A (n.4034-4304T>A)
c.3252T>A (p.Asp1084Glu)
c.5166T>A (p.Asp1722Glu)
c.3488-4304T>A (n.3488-4304T>A)
c.4893T>A (p.Asp1631Glu)
c.4347T>A (p.Asp1449Glu)
c.4580-4304T>A (n.4580-4304T>A)
c.4074T>A (p.Asp1358Glu)
c.3761-4304T>A (n.3761-4304T>A)
c.3525T>A (p.Asp1175Glu)
c.5439T>A (p.Asp1813Glu)
c.5163T>A (p.Asp1721Glu)
9g.115046646T>ACA374631368TNCc.318-4305A>T
c.3215-4305A>T (n.3215-4305A>T)
c.3800A>T (p.Asp1267Val)
c.1832A>T (p.Asp611Val)
c.488A>T (p.Asp163Val)
c.3847A>T
c.4889A>T (p.Asp1630Val)
c.4343A>T (p.Asp1448Val)
c.4307-4305A>T (n.4307-4305A>T)
n.207A>T
n.253-4305A>T
n.40-4305A>T
c.576A>T
c.47A>T (p.Asp16Val)
c.4616A>T (p.Asp1539Val)
c.4034-4305A>T (n.4034-4305A>T)
c.3251A>T (p.Asp1084Val)
c.5165A>T (p.Asp1722Val)
c.3488-4305A>T (n.3488-4305A>T)
c.4892A>T (p.Asp1631Val)
c.4346A>T (p.Asp1449Val)
c.4580-4305A>T (n.4580-4305A>T)
c.4073A>T (p.Asp1358Val)
c.3761-4305A>T (n.3761-4305A>T)
c.3524A>T (p.Asp1175Val)
c.5438A>T (p.Asp1813Val)
c.5162A>T (p.Asp1721Val)
9g.115046646T>CCA374631371TNCc.318-4305A>G
c.3215-4305A>G (n.3215-4305A>G)
c.3800A>G (p.Asp1267Gly)
c.1832A>G (p.Asp611Gly)
c.488A>G (p.Asp163Gly)
c.3847A>G
c.4889A>G (p.Asp1630Gly)
c.4343A>G (p.Asp1448Gly)
c.4307-4305A>G (n.4307-4305A>G)
n.207A>G
n.253-4305A>G
n.40-4305A>G
c.576A>G
c.47A>G (p.Asp16Gly)
c.4616A>G (p.Asp1539Gly)
c.4034-4305A>G (n.4034-4305A>G)
c.3251A>G (p.Asp1084Gly)
c.5165A>G (p.Asp1722Gly)
c.3488-4305A>G (n.3488-4305A>G)
c.4892A>G (p.Asp1631Gly)
c.4346A>G (p.Asp1449Gly)
c.4580-4305A>G (n.4580-4305A>G)
c.4073A>G (p.Asp1358Gly)
c.3761-4305A>G (n.3761-4305A>G)
c.3524A>G (p.Asp1175Gly)
c.5438A>G (p.Asp1813Gly)
c.5162A>G (p.Asp1721Gly)
9g.115046646T>GCA374631370TNCc.318-4305A>C
c.3215-4305A>C (n.3215-4305A>C)
c.3800A>C (p.Asp1267Ala)
c.1832A>C (p.Asp611Ala)
c.488A>C (p.Asp163Ala)
c.3847A>C
c.4889A>C (p.Asp1630Ala)
c.4343A>C (p.Asp1448Ala)
c.4307-4305A>C (n.4307-4305A>C)
n.207A>C
n.253-4305A>C
n.40-4305A>C
c.576A>C
c.47A>C (p.Asp16Ala)
c.4616A>C (p.Asp1539Ala)
c.4034-4305A>C (n.4034-4305A>C)
c.3251A>C (p.Asp1084Ala)
c.5165A>C (p.Asp1722Ala)
c.3488-4305A>C (n.3488-4305A>C)
c.4892A>C (p.Asp1631Ala)
c.4346A>C (p.Asp1449Ala)
c.4580-4305A>C (n.4580-4305A>C)
c.4073A>C (p.Asp1358Ala)
c.3761-4305A>C (n.3761-4305A>C)
c.3524A>C (p.Asp1175Ala)
c.5438A>C (p.Asp1813Ala)
c.5162A>C (p.Asp1721Ala)
9g.115046647C>ACA374631373TNCc.318-4306G>T
c.3215-4306G>T (n.3215-4306G>T)
c.3799G>T (p.Asp1267Tyr)
c.1831G>T (p.Asp611Tyr)
c.487G>T (p.Asp163Tyr)
c.3846G>T
c.4888G>T (p.Asp1630Tyr)
c.4342G>T (p.Asp1448Tyr)
c.4307-4306G>T (n.4307-4306G>T)
n.206G>T
n.253-4306G>T
n.40-4306G>T
c.575G>T
c.46G>T (p.Asp16Tyr)
c.4615G>T (p.Asp1539Tyr)
c.4034-4306G>T (n.4034-4306G>T)
c.3250G>T (p.Asp1084Tyr)
c.5164G>T (p.Asp1722Tyr)
c.3488-4306G>T (n.3488-4306G>T)
c.4891G>T (p.Asp1631Tyr)
c.4345G>T (p.Asp1449Tyr)
c.4580-4306G>T (n.4580-4306G>T)
c.4072G>T (p.Asp1358Tyr)
c.3761-4306G>T (n.3761-4306G>T)
c.3523G>T (p.Asp1175Tyr)
c.5437G>T (p.Asp1813Tyr)
c.5161G>T (p.Asp1721Tyr)
9g.115046647C=CA1874118957TNCc.318-4306G=
c.3215-4306G= (n.3215-4306G=)
c.3799G= (p.Asp1267=)
c.1831G= (p.Asp611=)
c.487G= (p.Asp163=)
c.3846G=
c.4888G= (p.Asp1630=)
c.4342G= (p.Asp1448=)
c.4307-4306G= (n.4307-4306G=)
n.206G=
n.253-4306G=
n.40-4306G=
c.575G=
c.46G= (p.Asp16=)
c.4615G= (p.Asp1539=)
c.4034-4306G= (n.4034-4306G=)
c.3250G= (p.Asp1084=)
c.5164G= (p.Asp1722=)
c.3488-4306G= (n.3488-4306G=)
c.4891G= (p.Asp1631=)
c.4345G= (p.Asp1449=)
c.4580-4306G= (n.4580-4306G=)
c.4072G= (p.Asp1358=)
c.3761-4306G= (n.3761-4306G=)
c.3523G= (p.Asp1175=)
c.5437G= (p.Asp1813=)
c.5161G= (p.Asp1721=)
9g.115046647C>GCA374631374TNCc.318-4306G>C
c.3215-4306G>C (n.3215-4306G>C)
c.3799G>C (p.Asp1267His)
c.1831G>C (p.Asp611His)
c.487G>C (p.Asp163His)
c.3846G>C
c.4888G>C (p.Asp1630His)
c.4342G>C (p.Asp1448His)
c.4307-4306G>C (n.4307-4306G>C)
n.206G>C
n.253-4306G>C
n.40-4306G>C
c.575G>C
c.46G>C (p.Asp16His)
c.4615G>C (p.Asp1539His)
c.4034-4306G>C (n.4034-4306G>C)
c.3250G>C (p.Asp1084His)
c.5164G>C (p.Asp1722His)
c.3488-4306G>C (n.3488-4306G>C)
c.4891G>C (p.Asp1631His)
c.4345G>C (p.Asp1449His)
c.4580-4306G>C (n.4580-4306G>C)
c.4072G>C (p.Asp1358His)
c.3761-4306G>C (n.3761-4306G>C)
c.3523G>C (p.Asp1175His)
c.5437G>C (p.Asp1813His)
c.5161G>C (p.Asp1721His)
 dbSNP gnomAD v3 gnomAD v4
9g.115046647C>TCA374631376TNCc.318-4306G>A
c.3215-4306G>A (n.3215-4306G>A)
c.3799G>A (p.Asp1267Asn)
c.1831G>A (p.Asp611Asn)
c.487G>A (p.Asp163Asn)
c.3846G>A
c.4888G>A (p.Asp1630Asn)
c.4342G>A (p.Asp1448Asn)
c.4307-4306G>A (n.4307-4306G>A)
n.206G>A
n.253-4306G>A
n.40-4306G>A
c.575G>A
c.46G>A (p.Asp16Asn)
c.4615G>A (p.Asp1539Asn)
c.4034-4306G>A (n.4034-4306G>A)
c.3250G>A (p.Asp1084Asn)
c.5164G>A (p.Asp1722Asn)
c.3488-4306G>A (n.3488-4306G>A)
c.4891G>A (p.Asp1631Asn)
c.4345G>A (p.Asp1449Asn)
c.4580-4306G>A (n.4580-4306G>A)
c.4072G>A (p.Asp1358Asn)
c.3761-4306G>A (n.3761-4306G>A)
c.3523G>A (p.Asp1175Asn)
c.5437G>A (p.Asp1813Asn)
c.5161G>A (p.Asp1721Asn)
9g.115046648T>ACA466912226TNCc.318-4307A>T
c.3215-4307A>T (n.3215-4307A>T)
c.3798A>T (p.Ser1266=)
c.1830A>T (p.Ser610=)
c.486A>T (p.Ser162=)
c.3845A>T
c.4887A>T (p.Ser1629=)
c.4341A>T (p.Ser1447=)
c.4307-4307A>T (n.4307-4307A>T)
n.205A>T
n.253-4307A>T
n.40-4307A>T
c.574A>T
c.45A>T (p.Ser15=)
c.4614A>T (p.Ser1538=)
c.4034-4307A>T (n.4034-4307A>T)
c.3249A>T (p.Ser1083=)
c.5163A>T (p.Ser1721=)
c.3488-4307A>T (n.3488-4307A>T)
c.4890A>T (p.Ser1630=)
c.4344A>T (p.Ser1448=)
c.4580-4307A>T (n.4580-4307A>T)
c.4071A>T (p.Ser1357=)
c.3761-4307A>T (n.3761-4307A>T)
c.3522A>T (p.Ser1174=)
c.5436A>T (p.Ser1812=)
c.5160A>T (p.Ser1720=)
 dbSNP
9g.115046648T>CCA466912227TNCc.318-4307A>G
c.3215-4307A>G (n.3215-4307A>G)
c.3798A>G (p.Ser1266=)
c.1830A>G (p.Ser610=)
c.486A>G (p.Ser162=)
c.3845A>G
c.4887A>G (p.Ser1629=)
c.4341A>G (p.Ser1447=)
c.4307-4307A>G (n.4307-4307A>G)
n.205A>G
n.253-4307A>G
n.40-4307A>G
c.574A>G
c.45A>G (p.Ser15=)
c.4614A>G (p.Ser1538=)
c.4034-4307A>G (n.4034-4307A>G)
c.3249A>G (p.Ser1083=)
c.5163A>G (p.Ser1721=)
c.3488-4307A>G (n.3488-4307A>G)
c.4890A>G (p.Ser1630=)
c.4344A>G (p.Ser1448=)
c.4580-4307A>G (n.4580-4307A>G)
c.4071A>G (p.Ser1357=)
c.3761-4307A>G (n.3761-4307A>G)
c.3522A>G (p.Ser1174=)
c.5436A>G (p.Ser1812=)
c.5160A>G (p.Ser1720=)
9g.115046648T>GCA466912228TNCc.318-4307A>C
c.3215-4307A>C (n.3215-4307A>C)
c.3798A>C (p.Ser1266=)
c.1830A>C (p.Ser610=)
c.486A>C (p.Ser162=)
c.3845A>C
c.4887A>C (p.Ser1629=)
c.4341A>C (p.Ser1447=)
c.4307-4307A>C (n.4307-4307A>C)
n.205A>C
n.253-4307A>C
n.40-4307A>C
c.574A>C
c.45A>C (p.Ser15=)
c.4614A>C (p.Ser1538=)
c.4034-4307A>C (n.4034-4307A>C)
c.3249A>C (p.Ser1083=)
c.5163A>C (p.Ser1721=)
c.3488-4307A>C (n.3488-4307A>C)
c.4890A>C (p.Ser1630=)
c.4344A>C (p.Ser1448=)
c.4580-4307A>C (n.4580-4307A>C)
c.4071A>C (p.Ser1357=)
c.3761-4307A>C (n.3761-4307A>C)
c.3522A>C (p.Ser1174=)
c.5436A>C (p.Ser1812=)
c.5160A>C (p.Ser1720=)
9g.115046649G>ACA374631378TNCc.318-4308C>T
c.3215-4308C>T (n.3215-4308C>T)
c.3797C>T (p.Ser1266Leu)
c.1829C>T (p.Ser610Leu)
c.485C>T (p.Ser162Leu)
c.3844C>T
c.4886C>T (p.Ser1629Leu)
c.4340C>T (p.Ser1447Leu)
c.4307-4308C>T (n.4307-4308C>T)
n.204C>T
n.253-4308C>T
n.40-4308C>T
c.573C>T
c.44C>T (p.Ser15Leu)
c.4613C>T (p.Ser1538Leu)
c.4034-4308C>T (n.4034-4308C>T)
c.3248C>T (p.Ser1083Leu)
c.5162C>T (p.Ser1721Leu)
c.3488-4308C>T (n.3488-4308C>T)
c.4889C>T (p.Ser1630Leu)
c.4343C>T (p.Ser1448Leu)
c.4580-4308C>T (n.4580-4308C>T)
c.4070C>T (p.Ser1357Leu)
c.3761-4308C>T (n.3761-4308C>T)
c.3521C>T (p.Ser1174Leu)
c.5435C>T (p.Ser1812Leu)
c.5159C>T (p.Ser1720Leu)
 COSMIC
9g.115046649G>CCA5207794TNCc.318-4308C>G
c.3215-4308C>G (n.3215-4308C>G)
c.3797C>G (p.Ser1266Ter)
c.1829C>G (p.Ser610Ter)
c.485C>G (p.Ser162Ter)
c.3844C>G
c.4886C>G (p.Ser1629Ter)
c.4340C>G (p.Ser1447Ter)
c.4307-4308C>G (n.4307-4308C>G)
n.204C>G
n.253-4308C>G
n.40-4308C>G
c.573C>G
c.44C>G (p.Ser15Ter)
c.4613C>G (p.Ser1538Ter)
c.4034-4308C>G (n.4034-4308C>G)
c.3248C>G (p.Ser1083Ter)
c.5162C>G (p.Ser1721Ter)
c.3488-4308C>G (n.3488-4308C>G)
c.4889C>G (p.Ser1630Ter)
c.4343C>G (p.Ser1448Ter)
c.4580-4308C>G (n.4580-4308C>G)
c.4070C>G (p.Ser1357Ter)
c.3761-4308C>G (n.3761-4308C>G)
c.3521C>G (p.Ser1174Ter)
c.5435C>G (p.Ser1812Ter)
c.5159C>G (p.Ser1720Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046649G=CA1874118958TNCc.318-4308C=
c.3215-4308C= (n.3215-4308C=)
c.3797C= (p.Ser1266=)
c.1829C= (p.Ser610=)
c.485C= (p.Ser162=)
c.3844C=
c.4886C= (p.Ser1629=)
c.4340C= (p.Ser1447=)
c.4307-4308C= (n.4307-4308C=)
n.204C=
n.253-4308C=
n.40-4308C=
c.573C=
c.44C= (p.Ser15=)
c.4613C= (p.Ser1538=)
c.4034-4308C= (n.4034-4308C=)
c.3248C= (p.Ser1083=)
c.5162C= (p.Ser1721=)
c.3488-4308C= (n.3488-4308C=)
c.4889C= (p.Ser1630=)
c.4343C= (p.Ser1448=)
c.4580-4308C= (n.4580-4308C=)
c.4070C= (p.Ser1357=)
c.3761-4308C= (n.3761-4308C=)
c.3521C= (p.Ser1174=)
c.5435C= (p.Ser1812=)
c.5159C= (p.Ser1720=)
9g.115046649G>TCA374631379TNCc.318-4308C>A
c.3215-4308C>A (n.3215-4308C>A)
c.3797C>A (p.Ser1266Ter)
c.1829C>A (p.Ser610Ter)
c.485C>A (p.Ser162Ter)
c.3844C>A
c.4886C>A (p.Ser1629Ter)
c.4340C>A (p.Ser1447Ter)
c.4307-4308C>A (n.4307-4308C>A)
n.204C>A
n.253-4308C>A
n.40-4308C>A
c.573C>A
c.44C>A (p.Ser15Ter)
c.4613C>A (p.Ser1538Ter)
c.4034-4308C>A (n.4034-4308C>A)
c.3248C>A (p.Ser1083Ter)
c.5162C>A (p.Ser1721Ter)
c.3488-4308C>A (n.3488-4308C>A)
c.4889C>A (p.Ser1630Ter)
c.4343C>A (p.Ser1448Ter)
c.4580-4308C>A (n.4580-4308C>A)
c.4070C>A (p.Ser1357Ter)
c.3761-4308C>A (n.3761-4308C>A)
c.3521C>A (p.Ser1174Ter)
c.5435C>A (p.Ser1812Ter)
c.5159C>A (p.Ser1720Ter)
9g.115046650A>CCA374631381TNCc.318-4309T>G
c.3215-4309T>G (n.3215-4309T>G)
c.3796T>G (p.Ser1266Ala)
c.1828T>G (p.Ser610Ala)
c.484T>G (p.Ser162Ala)
c.3843T>G
c.4885T>G (p.Ser1629Ala)
c.4339T>G (p.Ser1447Ala)
c.4307-4309T>G (n.4307-4309T>G)
n.203T>G
n.253-4309T>G
n.40-4309T>G
c.572T>G
c.43T>G (p.Ser15Ala)
c.4612T>G (p.Ser1538Ala)
c.4034-4309T>G (n.4034-4309T>G)
c.3247T>G (p.Ser1083Ala)
c.5161T>G (p.Ser1721Ala)
c.3488-4309T>G (n.3488-4309T>G)
c.4888T>G (p.Ser1630Ala)
c.4342T>G (p.Ser1448Ala)
c.4580-4309T>G (n.4580-4309T>G)
c.4069T>G (p.Ser1357Ala)
c.3761-4309T>G (n.3761-4309T>G)
c.3520T>G (p.Ser1174Ala)
c.5434T>G (p.Ser1812Ala)
c.5158T>G (p.Ser1720Ala)
9g.115046650A>GCA374631383TNCc.318-4309T>C
c.3215-4309T>C (n.3215-4309T>C)
c.3796T>C (p.Ser1266Pro)
c.1828T>C (p.Ser610Pro)
c.484T>C (p.Ser162Pro)
c.3843T>C
c.4885T>C (p.Ser1629Pro)
c.4339T>C (p.Ser1447Pro)
c.4307-4309T>C (n.4307-4309T>C)
n.203T>C
n.253-4309T>C
n.40-4309T>C
c.572T>C
c.43T>C (p.Ser15Pro)
c.4612T>C (p.Ser1538Pro)
c.4034-4309T>C (n.4034-4309T>C)
c.3247T>C (p.Ser1083Pro)
c.5161T>C (p.Ser1721Pro)
c.3488-4309T>C (n.3488-4309T>C)
c.4888T>C (p.Ser1630Pro)
c.4342T>C (p.Ser1448Pro)
c.4580-4309T>C (n.4580-4309T>C)
c.4069T>C (p.Ser1357Pro)
c.3761-4309T>C (n.3761-4309T>C)
c.3520T>C (p.Ser1174Pro)
c.5434T>C (p.Ser1812Pro)
c.5158T>C (p.Ser1720Pro)
9g.115046650A>TCA374631385TNCc.318-4309T>A
c.3215-4309T>A (n.3215-4309T>A)
c.3796T>A (p.Ser1266Thr)
c.1828T>A (p.Ser610Thr)
c.484T>A (p.Ser162Thr)
c.3843T>A
c.4885T>A (p.Ser1629Thr)
c.4339T>A (p.Ser1447Thr)
c.4307-4309T>A (n.4307-4309T>A)
n.203T>A
n.253-4309T>A
n.40-4309T>A
c.572T>A
c.43T>A (p.Ser15Thr)
c.4612T>A (p.Ser1538Thr)
c.4034-4309T>A (n.4034-4309T>A)
c.3247T>A (p.Ser1083Thr)
c.5161T>A (p.Ser1721Thr)
c.3488-4309T>A (n.3488-4309T>A)
c.4888T>A (p.Ser1630Thr)
c.4342T>A (p.Ser1448Thr)
c.4580-4309T>A (n.4580-4309T>A)
c.4069T>A (p.Ser1357Thr)
c.3761-4309T>A (n.3761-4309T>A)
c.3520T>A (p.Ser1174Thr)
c.5434T>A (p.Ser1812Thr)
c.5158T>A (p.Ser1720Thr)
9g.115046651A>CCA466912231TNCc.318-4310T>G
c.3215-4310T>G (n.3215-4310T>G)
c.3795T>G (p.Val1265=)
c.1827T>G (p.Val609=)
c.483T>G (p.Val161=)
c.3842T>G
c.4884T>G (p.Val1628=)
c.4338T>G (p.Val1446=)
c.4307-4310T>G (n.4307-4310T>G)
n.202T>G
n.253-4310T>G
n.40-4310T>G
c.571T>G
c.42T>G (p.Val14=)
c.4611T>G (p.Val1537=)
c.4034-4310T>G (n.4034-4310T>G)
c.3246T>G (p.Val1082=)
c.5160T>G (p.Val1720=)
c.3488-4310T>G (n.3488-4310T>G)
c.4887T>G (p.Val1629=)
c.4341T>G (p.Val1447=)
c.4580-4310T>G (n.4580-4310T>G)
c.4068T>G (p.Val1356=)
c.3761-4310T>G (n.3761-4310T>G)
c.3519T>G (p.Val1173=)
c.5433T>G (p.Val1811=)
c.5157T>G (p.Val1719=)
9g.115046651A>GCA466912232TNCc.318-4310T>C
c.3215-4310T>C (n.3215-4310T>C)
c.3795T>C (p.Val1265=)
c.1827T>C (p.Val609=)
c.483T>C (p.Val161=)
c.3842T>C
c.4884T>C (p.Val1628=)
c.4338T>C (p.Val1446=)
c.4307-4310T>C (n.4307-4310T>C)
n.202T>C
n.253-4310T>C
n.40-4310T>C
c.571T>C
c.42T>C (p.Val14=)
c.4611T>C (p.Val1537=)
c.4034-4310T>C (n.4034-4310T>C)
c.3246T>C (p.Val1082=)
c.5160T>C (p.Val1720=)
c.3488-4310T>C (n.3488-4310T>C)
c.4887T>C (p.Val1629=)
c.4341T>C (p.Val1447=)
c.4580-4310T>C (n.4580-4310T>C)
c.4068T>C (p.Val1356=)
c.3761-4310T>C (n.3761-4310T>C)
c.3519T>C (p.Val1173=)
c.5433T>C (p.Val1811=)
c.5157T>C (p.Val1719=)
9g.115046651A>TCA466912233TNCc.318-4310T>A
c.3215-4310T>A (n.3215-4310T>A)
c.3795T>A (p.Val1265=)
c.1827T>A (p.Val609=)
c.483T>A (p.Val161=)
c.3842T>A
c.4884T>A (p.Val1628=)
c.4338T>A (p.Val1446=)
c.4307-4310T>A (n.4307-4310T>A)
n.202T>A
n.253-4310T>A
n.40-4310T>A
c.571T>A
c.42T>A (p.Val14=)
c.4611T>A (p.Val1537=)
c.4034-4310T>A (n.4034-4310T>A)
c.3246T>A (p.Val1082=)
c.5160T>A (p.Val1720=)
c.3488-4310T>A (n.3488-4310T>A)
c.4887T>A (p.Val1629=)
c.4341T>A (p.Val1447=)
c.4580-4310T>A (n.4580-4310T>A)
c.4068T>A (p.Val1356=)
c.3761-4310T>A (n.3761-4310T>A)
c.3519T>A (p.Val1173=)
c.5433T>A (p.Val1811=)
c.5157T>A (p.Val1719=)
9g.115046652A>CCA374631386TNCc.318-4311T>G
c.3215-4311T>G (n.3215-4311T>G)
c.3794T>G (p.Val1265Gly)
c.1826T>G (p.Val609Gly)
c.482T>G (p.Val161Gly)
c.3841T>G
c.4883T>G (p.Val1628Gly)
c.4337T>G (p.Val1446Gly)
c.4307-4311T>G (n.4307-4311T>G)
n.201T>G
n.253-4311T>G
n.40-4311T>G
c.570T>G
c.41T>G (p.Val14Gly)
c.4610T>G (p.Val1537Gly)
c.4034-4311T>G (n.4034-4311T>G)
c.3245T>G (p.Val1082Gly)
c.5159T>G (p.Val1720Gly)
c.3488-4311T>G (n.3488-4311T>G)
c.4886T>G (p.Val1629Gly)
c.4340T>G (p.Val1447Gly)
c.4580-4311T>G (n.4580-4311T>G)
c.4067T>G (p.Val1356Gly)
c.3761-4311T>G (n.3761-4311T>G)
c.3518T>G (p.Val1173Gly)
c.5432T>G (p.Val1811Gly)
c.5156T>G (p.Val1719Gly)
9g.115046652A>GCA374631388TNCc.318-4311T>C
c.3215-4311T>C (n.3215-4311T>C)
c.3794T>C (p.Val1265Ala)
c.1826T>C (p.Val609Ala)
c.482T>C (p.Val161Ala)
c.3841T>C
c.4883T>C (p.Val1628Ala)
c.4337T>C (p.Val1446Ala)
c.4307-4311T>C (n.4307-4311T>C)
n.201T>C
n.253-4311T>C
n.40-4311T>C
c.570T>C
c.41T>C (p.Val14Ala)
c.4610T>C (p.Val1537Ala)
c.4034-4311T>C (n.4034-4311T>C)
c.3245T>C (p.Val1082Ala)
c.5159T>C (p.Val1720Ala)
c.3488-4311T>C (n.3488-4311T>C)
c.4886T>C (p.Val1629Ala)
c.4340T>C (p.Val1447Ala)
c.4580-4311T>C (n.4580-4311T>C)
c.4067T>C (p.Val1356Ala)
c.3761-4311T>C (n.3761-4311T>C)
c.3518T>C (p.Val1173Ala)
c.5432T>C (p.Val1811Ala)
c.5156T>C (p.Val1719Ala)
9g.115046652A>TCA374631389TNCc.318-4311T>A
c.3215-4311T>A (n.3215-4311T>A)
c.3794T>A (p.Val1265Asp)
c.1826T>A (p.Val609Asp)
c.482T>A (p.Val161Asp)
c.3841T>A
c.4883T>A (p.Val1628Asp)
c.4337T>A (p.Val1446Asp)
c.4307-4311T>A (n.4307-4311T>A)
n.201T>A
n.253-4311T>A
n.40-4311T>A
c.570T>A
c.41T>A (p.Val14Asp)
c.4610T>A (p.Val1537Asp)
c.4034-4311T>A (n.4034-4311T>A)
c.3245T>A (p.Val1082Asp)
c.5159T>A (p.Val1720Asp)
c.3488-4311T>A (n.3488-4311T>A)
c.4886T>A (p.Val1629Asp)
c.4340T>A (p.Val1447Asp)
c.4580-4311T>A (n.4580-4311T>A)
c.4067T>A (p.Val1356Asp)
c.3761-4311T>A (n.3761-4311T>A)
c.3518T>A (p.Val1173Asp)
c.5432T>A (p.Val1811Asp)
c.5156T>A (p.Val1719Asp)
9g.115046653C>ACA374631392TNCc.318-4312G>T
c.3215-4312G>T (n.3215-4312G>T)
c.3793G>T (p.Val1265Phe)
c.1825G>T (p.Val609Phe)
c.481G>T (p.Val161Phe)
c.3840G>T
c.4882G>T (p.Val1628Phe)
c.4336G>T (p.Val1446Phe)
c.4307-4312G>T (n.4307-4312G>T)
n.200G>T
n.253-4312G>T
n.40-4312G>T
c.569G>T
c.40G>T (p.Val14Phe)
c.4609G>T (p.Val1537Phe)
c.4034-4312G>T (n.4034-4312G>T)
c.3244G>T (p.Val1082Phe)
c.5158G>T (p.Val1720Phe)
c.3488-4312G>T (n.3488-4312G>T)
c.4885G>T (p.Val1629Phe)
c.4339G>T (p.Val1447Phe)
c.4580-4312G>T (n.4580-4312G>T)
c.4066G>T (p.Val1356Phe)
c.3761-4312G>T (n.3761-4312G>T)
c.3517G>T (p.Val1173Phe)
c.5431G>T (p.Val1811Phe)
c.5155G>T (p.Val1719Phe)
 gnomAD v4
9g.115046653C>GCA374631394TNCc.318-4312G>C
c.3215-4312G>C (n.3215-4312G>C)
c.3793G>C (p.Val1265Leu)
c.1825G>C (p.Val609Leu)
c.481G>C (p.Val161Leu)
c.3840G>C
c.4882G>C (p.Val1628Leu)
c.4336G>C (p.Val1446Leu)
c.4307-4312G>C (n.4307-4312G>C)
n.200G>C
n.253-4312G>C
n.40-4312G>C
c.569G>C
c.40G>C (p.Val14Leu)
c.4609G>C (p.Val1537Leu)
c.4034-4312G>C (n.4034-4312G>C)
c.3244G>C (p.Val1082Leu)
c.5158G>C (p.Val1720Leu)
c.3488-4312G>C (n.3488-4312G>C)
c.4885G>C (p.Val1629Leu)
c.4339G>C (p.Val1447Leu)
c.4580-4312G>C (n.4580-4312G>C)
c.4066G>C (p.Val1356Leu)
c.3761-4312G>C (n.3761-4312G>C)
c.3517G>C (p.Val1173Leu)
c.5431G>C (p.Val1811Leu)
c.5155G>C (p.Val1719Leu)
9g.115046653C>TCA374631391TNCc.318-4312G>A
c.3215-4312G>A (n.3215-4312G>A)
c.3793G>A (p.Val1265Ile)
c.1825G>A (p.Val609Ile)
c.481G>A (p.Val161Ile)
c.3840G>A
c.4882G>A (p.Val1628Ile)
c.4336G>A (p.Val1446Ile)
c.4307-4312G>A (n.4307-4312G>A)
n.200G>A
n.253-4312G>A
n.40-4312G>A
c.569G>A
c.40G>A (p.Val14Ile)
c.4609G>A (p.Val1537Ile)
c.4034-4312G>A (n.4034-4312G>A)
c.3244G>A (p.Val1082Ile)
c.5158G>A (p.Val1720Ile)
c.3488-4312G>A (n.3488-4312G>A)
c.4885G>A (p.Val1629Ile)
c.4339G>A (p.Val1447Ile)
c.4580-4312G>A (n.4580-4312G>A)
c.4066G>A (p.Val1356Ile)
c.3761-4312G>A (n.3761-4312G>A)
c.3517G>A (p.Val1173Ile)
c.5431G>A (p.Val1811Ile)
c.5155G>A (p.Val1719Ile)
 gnomAD v4
9g.115046654C>ACA466912236TNCc.318-4313G>T
c.3215-4313G>T (n.3215-4313G>T)
c.3792G>T (p.Leu1264=)
c.1824G>T (p.Leu608=)
c.480G>T (p.Leu160=)
c.3839G>T
c.4881G>T (p.Leu1627=)
c.4335G>T (p.Leu1445=)
c.4307-4313G>T (n.4307-4313G>T)
n.199G>T
n.253-4313G>T
n.40-4313G>T
c.568G>T
c.39G>T (p.Leu13=)
c.4608G>T (p.Leu1536=)
c.4034-4313G>T (n.4034-4313G>T)
c.3243G>T (p.Leu1081=)
c.5157G>T (p.Leu1719=)
c.3488-4313G>T (n.3488-4313G>T)
c.4884G>T (p.Leu1628=)
c.4338G>T (p.Leu1446=)
c.4580-4313G>T (n.4580-4313G>T)
c.4065G>T (p.Leu1355=)
c.3761-4313G>T (n.3761-4313G>T)
c.3516G>T (p.Leu1172=)
c.5430G>T (p.Leu1810=)
c.5154G>T (p.Leu1718=)
9g.115046654C=CA1874118959TNCc.318-4313G=
c.3215-4313G= (n.3215-4313G=)
c.3792G= (p.Leu1264=)
c.1824G= (p.Leu608=)
c.480G= (p.Leu160=)
c.3839G=
c.4881G= (p.Leu1627=)
c.4335G= (p.Leu1445=)
c.4307-4313G= (n.4307-4313G=)
n.199G=
n.253-4313G=
n.40-4313G=
c.568G=
c.39G= (p.Leu13=)
c.4608G= (p.Leu1536=)
c.4034-4313G= (n.4034-4313G=)
c.3243G= (p.Leu1081=)
c.5157G= (p.Leu1719=)
c.3488-4313G= (n.3488-4313G=)
c.4884G= (p.Leu1628=)
c.4338G= (p.Leu1446=)
c.4580-4313G= (n.4580-4313G=)
c.4065G= (p.Leu1355=)
c.3761-4313G= (n.3761-4313G=)
c.3516G= (p.Leu1172=)
c.5430G= (p.Leu1810=)
c.5154G= (p.Leu1718=)
9g.115046654C>GCA466912237TNCc.318-4313G>C
c.3215-4313G>C (n.3215-4313G>C)
c.3792G>C (p.Leu1264=)
c.1824G>C (p.Leu608=)
c.480G>C (p.Leu160=)
c.3839G>C
c.4881G>C (p.Leu1627=)
c.4335G>C (p.Leu1445=)
c.4307-4313G>C (n.4307-4313G>C)
n.199G>C
n.253-4313G>C
n.40-4313G>C
c.568G>C
c.39G>C (p.Leu13=)
c.4608G>C (p.Leu1536=)
c.4034-4313G>C (n.4034-4313G>C)
c.3243G>C (p.Leu1081=)
c.5157G>C (p.Leu1719=)
c.3488-4313G>C (n.3488-4313G>C)
c.4884G>C (p.Leu1628=)
c.4338G>C (p.Leu1446=)
c.4580-4313G>C (n.4580-4313G>C)
c.4065G>C (p.Leu1355=)
c.3761-4313G>C (n.3761-4313G>C)
c.3516G>C (p.Leu1172=)
c.5430G>C (p.Leu1810=)
c.5154G>C (p.Leu1718=)
9g.115046654C>TCA466912235TNCc.318-4313G>A
c.3215-4313G>A (n.3215-4313G>A)
c.3792G>A (p.Leu1264=)
c.1824G>A (p.Leu608=)
c.480G>A (p.Leu160=)
c.3839G>A
c.4881G>A (p.Leu1627=)
c.4335G>A (p.Leu1445=)
c.4307-4313G>A (n.4307-4313G>A)
n.199G>A
n.253-4313G>A
n.40-4313G>A
c.568G>A
c.39G>A (p.Leu13=)
c.4608G>A (p.Leu1536=)
c.4034-4313G>A (n.4034-4313G>A)
c.3243G>A (p.Leu1081=)
c.5157G>A (p.Leu1719=)
c.3488-4313G>A (n.3488-4313G>A)
c.4884G>A (p.Leu1628=)
c.4338G>A (p.Leu1446=)
c.4580-4313G>A (n.4580-4313G>A)
c.4065G>A (p.Leu1355=)
c.3761-4313G>A (n.3761-4313G>A)
c.3516G>A (p.Leu1172=)
c.5430G>A (p.Leu1810=)
c.5154G>A (p.Leu1718=)
 dbSNP gnomAD v4
9g.115046655A>CCA374631396TNCc.318-4314T>G
c.3215-4314T>G (n.3215-4314T>G)
c.3791T>G (p.Leu1264Arg)
c.1823T>G (p.Leu608Arg)
c.479T>G (p.Leu160Arg)
c.3838T>G
c.4880T>G (p.Leu1627Arg)
c.4334T>G (p.Leu1445Arg)
c.4307-4314T>G (n.4307-4314T>G)
n.198T>G
n.253-4314T>G
n.40-4314T>G
c.567T>G
c.38T>G (p.Leu13Arg)
c.4607T>G (p.Leu1536Arg)
c.4034-4314T>G (n.4034-4314T>G)
c.3242T>G (p.Leu1081Arg)
c.5156T>G (p.Leu1719Arg)
c.3488-4314T>G (n.3488-4314T>G)
c.4883T>G (p.Leu1628Arg)
c.4337T>G (p.Leu1446Arg)
c.4580-4314T>G (n.4580-4314T>G)
c.4064T>G (p.Leu1355Arg)
c.3761-4314T>G (n.3761-4314T>G)
c.3515T>G (p.Leu1172Arg)
c.5429T>G (p.Leu1810Arg)
c.5153T>G (p.Leu1718Arg)
9g.115046655A>GCA374631399TNCc.318-4314T>C
c.3215-4314T>C (n.3215-4314T>C)
c.3791T>C (p.Leu1264Pro)
c.1823T>C (p.Leu608Pro)
c.479T>C (p.Leu160Pro)
c.3838T>C
c.4880T>C (p.Leu1627Pro)
c.4334T>C (p.Leu1445Pro)
c.4307-4314T>C (n.4307-4314T>C)
n.198T>C
n.253-4314T>C
n.40-4314T>C
c.567T>C
c.38T>C (p.Leu13Pro)
c.4607T>C (p.Leu1536Pro)
c.4034-4314T>C (n.4034-4314T>C)
c.3242T>C (p.Leu1081Pro)
c.5156T>C (p.Leu1719Pro)
c.3488-4314T>C (n.3488-4314T>C)
c.4883T>C (p.Leu1628Pro)
c.4337T>C (p.Leu1446Pro)
c.4580-4314T>C (n.4580-4314T>C)
c.4064T>C (p.Leu1355Pro)
c.3761-4314T>C (n.3761-4314T>C)
c.3515T>C (p.Leu1172Pro)
c.5429T>C (p.Leu1810Pro)
c.5153T>C (p.Leu1718Pro)
9g.115046655A>TCA374631398TNCc.318-4314T>A
c.3215-4314T>A (n.3215-4314T>A)
c.3791T>A (p.Leu1264Gln)
c.1823T>A (p.Leu608Gln)
c.479T>A (p.Leu160Gln)
c.3838T>A
c.4880T>A (p.Leu1627Gln)
c.4334T>A (p.Leu1445Gln)
c.4307-4314T>A (n.4307-4314T>A)
n.198T>A
n.253-4314T>A
n.40-4314T>A
c.567T>A
c.38T>A (p.Leu13Gln)
c.4607T>A (p.Leu1536Gln)
c.4034-4314T>A (n.4034-4314T>A)
c.3242T>A (p.Leu1081Gln)
c.5156T>A (p.Leu1719Gln)
c.3488-4314T>A (n.3488-4314T>A)
c.4883T>A (p.Leu1628Gln)
c.4337T>A (p.Leu1446Gln)
c.4580-4314T>A (n.4580-4314T>A)
c.4064T>A (p.Leu1355Gln)
c.3761-4314T>A (n.3761-4314T>A)
c.3515T>A (p.Leu1172Gln)
c.5429T>A (p.Leu1810Gln)
c.5153T>A (p.Leu1718Gln)
9g.115046656G>ACA466912238TNCc.318-4315C>T
c.3215-4315C>T (n.3215-4315C>T)
c.3790C>T (p.Leu1264=)
c.1822C>T (p.Leu608=)
c.478C>T (p.Leu160=)
c.3837C>T
c.4879C>T (p.Leu1627=)
c.4333C>T (p.Leu1445=)
c.4307-4315C>T (n.4307-4315C>T)
n.197C>T
n.253-4315C>T
n.40-4315C>T
c.566C>T
c.37C>T (p.Leu13=)
c.4606C>T (p.Leu1536=)
c.4034-4315C>T (n.4034-4315C>T)
c.3241C>T (p.Leu1081=)
c.5155C>T (p.Leu1719=)
c.3488-4315C>T (n.3488-4315C>T)
c.4882C>T (p.Leu1628=)
c.4336C>T (p.Leu1446=)
c.4580-4315C>T (n.4580-4315C>T)
c.4063C>T (p.Leu1355=)
c.3761-4315C>T (n.3761-4315C>T)
c.3514C>T (p.Leu1172=)
c.5428C>T (p.Leu1810=)
c.5152C>T (p.Leu1718=)
9g.115046656G>CCA374631401TNCc.318-4315C>G
c.3215-4315C>G (n.3215-4315C>G)
c.3790C>G (p.Leu1264Val)
c.1822C>G (p.Leu608Val)
c.478C>G (p.Leu160Val)
c.3837C>G
c.4879C>G (p.Leu1627Val)
c.4333C>G (p.Leu1445Val)
c.4307-4315C>G (n.4307-4315C>G)
n.197C>G
n.253-4315C>G
n.40-4315C>G
c.566C>G
c.37C>G (p.Leu13Val)
c.4606C>G (p.Leu1536Val)
c.4034-4315C>G (n.4034-4315C>G)
c.3241C>G (p.Leu1081Val)
c.5155C>G (p.Leu1719Val)
c.3488-4315C>G (n.3488-4315C>G)
c.4882C>G (p.Leu1628Val)
c.4336C>G (p.Leu1446Val)
c.4580-4315C>G (n.4580-4315C>G)
c.4063C>G (p.Leu1355Val)
c.3761-4315C>G (n.3761-4315C>G)
c.3514C>G (p.Leu1172Val)
c.5428C>G (p.Leu1810Val)
c.5152C>G (p.Leu1718Val)
9g.115046656G>TCA374631403TNCc.318-4315C>A
c.3215-4315C>A (n.3215-4315C>A)
c.3790C>A (p.Leu1264Met)
c.1822C>A (p.Leu608Met)
c.478C>A (p.Leu160Met)
c.3837C>A
c.4879C>A (p.Leu1627Met)
c.4333C>A (p.Leu1445Met)
c.4307-4315C>A (n.4307-4315C>A)
n.197C>A
n.253-4315C>A
n.40-4315C>A
c.566C>A
c.37C>A (p.Leu13Met)
c.4606C>A (p.Leu1536Met)
c.4034-4315C>A (n.4034-4315C>A)
c.3241C>A (p.Leu1081Met)
c.5155C>A (p.Leu1719Met)
c.3488-4315C>A (n.3488-4315C>A)
c.4882C>A (p.Leu1628Met)
c.4336C>A (p.Leu1446Met)
c.4580-4315C>A (n.4580-4315C>A)
c.4063C>A (p.Leu1355Met)
c.3761-4315C>A (n.3761-4315C>A)
c.3514C>A (p.Leu1172Met)
c.5428C>A (p.Leu1810Met)
c.5152C>A (p.Leu1718Met)
9g.115046657A=CA1874118960TNCc.318-4316T=
c.3215-4316T= (n.3215-4316T=)
c.3789T= (p.Leu1263=)
c.1821T= (p.Leu607=)
c.477T= (p.Leu159=)
c.3836T=
c.4878T= (p.Leu1626=)
c.4332T= (p.Leu1444=)
c.4307-4316T= (n.4307-4316T=)
n.196T=
n.253-4316T=
n.40-4316T=
c.565T=
c.36T= (p.Leu12=)
c.4605T= (p.Leu1535=)
c.4034-4316T= (n.4034-4316T=)
c.3240T= (p.Leu1080=)
c.5154T= (p.Leu1718=)
c.3488-4316T= (n.3488-4316T=)
c.4881T= (p.Leu1627=)
c.4335T= (p.Leu1445=)
c.4580-4316T= (n.4580-4316T=)
c.4062T= (p.Leu1354=)
c.3761-4316T= (n.3761-4316T=)
c.3513T= (p.Leu1171=)
c.5427T= (p.Leu1809=)
c.5151T= (p.Leu1717=)
9g.115046657A>CCA466912243TNCc.318-4316T>G
c.3215-4316T>G (n.3215-4316T>G)
c.3789T>G (p.Leu1263=)
c.1821T>G (p.Leu607=)
c.477T>G (p.Leu159=)
c.3836T>G
c.4878T>G (p.Leu1626=)
c.4332T>G (p.Leu1444=)
c.4307-4316T>G (n.4307-4316T>G)
n.196T>G
n.253-4316T>G
n.40-4316T>G
c.565T>G
c.36T>G (p.Leu12=)
c.4605T>G (p.Leu1535=)
c.4034-4316T>G (n.4034-4316T>G)
c.3240T>G (p.Leu1080=)
c.5154T>G (p.Leu1718=)
c.3488-4316T>G (n.3488-4316T>G)
c.4881T>G (p.Leu1627=)
c.4335T>G (p.Leu1445=)
c.4580-4316T>G (n.4580-4316T>G)
c.4062T>G (p.Leu1354=)
c.3761-4316T>G (n.3761-4316T>G)
c.3513T>G (p.Leu1171=)
c.5427T>G (p.Leu1809=)
c.5151T>G (p.Leu1717=)
9g.115046657A>GCA466912241TNCc.318-4316T>C
c.3215-4316T>C (n.3215-4316T>C)
c.3789T>C (p.Leu1263=)
c.1821T>C (p.Leu607=)
c.477T>C (p.Leu159=)
c.3836T>C
c.4878T>C (p.Leu1626=)
c.4332T>C (p.Leu1444=)
c.4307-4316T>C (n.4307-4316T>C)
n.196T>C
n.253-4316T>C
n.40-4316T>C
c.565T>C
c.36T>C (p.Leu12=)
c.4605T>C (p.Leu1535=)
c.4034-4316T>C (n.4034-4316T>C)
c.3240T>C (p.Leu1080=)
c.5154T>C (p.Leu1718=)
c.3488-4316T>C (n.3488-4316T>C)
c.4881T>C (p.Leu1627=)
c.4335T>C (p.Leu1445=)
c.4580-4316T>C (n.4580-4316T>C)
c.4062T>C (p.Leu1354=)
c.3761-4316T>C (n.3761-4316T>C)
c.3513T>C (p.Leu1171=)
c.5427T>C (p.Leu1809=)
c.5151T>C (p.Leu1717=)
9g.115046657A>TCA466912239TNCc.318-4316T>A
c.3215-4316T>A (n.3215-4316T>A)
c.3789T>A (p.Leu1263=)
c.1821T>A (p.Leu607=)
c.477T>A (p.Leu159=)
c.3836T>A
c.4878T>A (p.Leu1626=)
c.4332T>A (p.Leu1444=)
c.4307-4316T>A (n.4307-4316T>A)
n.196T>A
n.253-4316T>A
n.40-4316T>A
c.565T>A
c.36T>A (p.Leu12=)
c.4605T>A (p.Leu1535=)
c.4034-4316T>A (n.4034-4316T>A)
c.3240T>A (p.Leu1080=)
c.5154T>A (p.Leu1718=)
c.3488-4316T>A (n.3488-4316T>A)
c.4881T>A (p.Leu1627=)
c.4335T>A (p.Leu1445=)
c.4580-4316T>A (n.4580-4316T>A)
c.4062T>A (p.Leu1354=)
c.3761-4316T>A (n.3761-4316T>A)
c.3513T>A (p.Leu1171=)
c.5427T>A (p.Leu1809=)
c.5151T>A (p.Leu1717=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046658A=CA1874118961TNCc.318-4317T=
c.3215-4317T= (n.3215-4317T=)
c.3788T= (p.Leu1263=)
c.1820T= (p.Leu607=)
c.476T= (p.Leu159=)
c.3835T=
c.4877T= (p.Leu1626=)
c.4331T= (p.Leu1444=)
c.4307-4317T= (n.4307-4317T=)
n.195T=
n.253-4317T=
n.40-4317T=
c.564T=
c.35T= (p.Leu12=)
c.4604T= (p.Leu1535=)
c.4034-4317T= (n.4034-4317T=)
c.3239T= (p.Leu1080=)
c.5153T= (p.Leu1718=)
c.3488-4317T= (n.3488-4317T=)
c.4880T= (p.Leu1627=)
c.4334T= (p.Leu1445=)
c.4580-4317T= (n.4580-4317T=)
c.4061T= (p.Leu1354=)
c.3761-4317T= (n.3761-4317T=)
c.3512T= (p.Leu1171=)
c.5426T= (p.Leu1809=)
c.5150T= (p.Leu1717=)
9g.115046658A>CCA374631404TNCc.318-4317T>G
c.3215-4317T>G (n.3215-4317T>G)
c.3788T>G (p.Leu1263Arg)
c.1820T>G (p.Leu607Arg)
c.476T>G (p.Leu159Arg)
c.3835T>G
c.4877T>G (p.Leu1626Arg)
c.4331T>G (p.Leu1444Arg)
c.4307-4317T>G (n.4307-4317T>G)
n.195T>G
n.253-4317T>G
n.40-4317T>G
c.564T>G
c.35T>G (p.Leu12Arg)
c.4604T>G (p.Leu1535Arg)
c.4034-4317T>G (n.4034-4317T>G)
c.3239T>G (p.Leu1080Arg)
c.5153T>G (p.Leu1718Arg)
c.3488-4317T>G (n.3488-4317T>G)
c.4880T>G (p.Leu1627Arg)
c.4334T>G (p.Leu1445Arg)
c.4580-4317T>G (n.4580-4317T>G)
c.4061T>G (p.Leu1354Arg)
c.3761-4317T>G (n.3761-4317T>G)
c.3512T>G (p.Leu1171Arg)
c.5426T>G (p.Leu1809Arg)
c.5150T>G (p.Leu1717Arg)
9g.115046658A>GCA5207795TNCc.318-4317T>C
c.3215-4317T>C (n.3215-4317T>C)
c.3788T>C (p.Leu1263Pro)
c.1820T>C (p.Leu607Pro)
c.476T>C (p.Leu159Pro)
c.3835T>C
c.4877T>C (p.Leu1626Pro)
c.4331T>C (p.Leu1444Pro)
c.4307-4317T>C (n.4307-4317T>C)
n.195T>C
n.253-4317T>C
n.40-4317T>C
c.564T>C
c.35T>C (p.Leu12Pro)
c.4604T>C (p.Leu1535Pro)
c.4034-4317T>C (n.4034-4317T>C)
c.3239T>C (p.Leu1080Pro)
c.5153T>C (p.Leu1718Pro)
c.3488-4317T>C (n.3488-4317T>C)
c.4880T>C (p.Leu1627Pro)
c.4334T>C (p.Leu1445Pro)
c.4580-4317T>C (n.4580-4317T>C)
c.4061T>C (p.Leu1354Pro)
c.3761-4317T>C (n.3761-4317T>C)
c.3512T>C (p.Leu1171Pro)
c.5426T>C (p.Leu1809Pro)
c.5150T>C (p.Leu1717Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046658A>TCA374631406TNCc.318-4317T>A
c.3215-4317T>A (n.3215-4317T>A)
c.3788T>A (p.Leu1263His)
c.1820T>A (p.Leu607His)
c.476T>A (p.Leu159His)
c.3835T>A
c.4877T>A (p.Leu1626His)
c.4331T>A (p.Leu1444His)
c.4307-4317T>A (n.4307-4317T>A)
n.195T>A
n.253-4317T>A
n.40-4317T>A
c.564T>A
c.35T>A (p.Leu12His)
c.4604T>A (p.Leu1535His)
c.4034-4317T>A (n.4034-4317T>A)
c.3239T>A (p.Leu1080His)
c.5153T>A (p.Leu1718His)
c.3488-4317T>A (n.3488-4317T>A)
c.4880T>A (p.Leu1627His)
c.4334T>A (p.Leu1445His)
c.4580-4317T>A (n.4580-4317T>A)
c.4061T>A (p.Leu1354His)
c.3761-4317T>A (n.3761-4317T>A)
c.3512T>A (p.Leu1171His)
c.5426T>A (p.Leu1809His)
c.5150T>A (p.Leu1717His)
9g.115046659G>ACA374631407TNCc.318-4318C>T
c.3215-4318C>T (n.3215-4318C>T)
c.3787C>T (p.Leu1263Phe)
c.1819C>T (p.Leu607Phe)
c.475C>T (p.Leu159Phe)
c.3834C>T
c.4876C>T (p.Leu1626Phe)
c.4330C>T (p.Leu1444Phe)
c.4307-4318C>T (n.4307-4318C>T)
n.194C>T
n.253-4318C>T
n.40-4318C>T
c.563C>T
c.34C>T (p.Leu12Phe)
c.4603C>T (p.Leu1535Phe)
c.4034-4318C>T (n.4034-4318C>T)
c.3238C>T (p.Leu1080Phe)
c.5152C>T (p.Leu1718Phe)
c.3488-4318C>T (n.3488-4318C>T)
c.4879C>T (p.Leu1627Phe)
c.4333C>T (p.Leu1445Phe)
c.4580-4318C>T (n.4580-4318C>T)
c.4060C>T (p.Leu1354Phe)
c.3761-4318C>T (n.3761-4318C>T)
c.3511C>T (p.Leu1171Phe)
c.5425C>T (p.Leu1809Phe)
c.5149C>T (p.Leu1717Phe)
 gnomAD v4
9g.115046659G>CCA374631409TNCc.318-4318C>G
c.3215-4318C>G (n.3215-4318C>G)
c.3787C>G (p.Leu1263Val)
c.1819C>G (p.Leu607Val)
c.475C>G (p.Leu159Val)
c.3834C>G
c.4876C>G (p.Leu1626Val)
c.4330C>G (p.Leu1444Val)
c.4307-4318C>G (n.4307-4318C>G)
n.194C>G
n.253-4318C>G
n.40-4318C>G
c.563C>G
c.34C>G (p.Leu12Val)
c.4603C>G (p.Leu1535Val)
c.4034-4318C>G (n.4034-4318C>G)
c.3238C>G (p.Leu1080Val)
c.5152C>G (p.Leu1718Val)
c.3488-4318C>G (n.3488-4318C>G)
c.4879C>G (p.Leu1627Val)
c.4333C>G (p.Leu1445Val)
c.4580-4318C>G (n.4580-4318C>G)
c.4060C>G (p.Leu1354Val)
c.3761-4318C>G (n.3761-4318C>G)
c.3511C>G (p.Leu1171Val)
c.5425C>G (p.Leu1809Val)
c.5149C>G (p.Leu1717Val)
9g.115046659G>TCA374631411TNCc.318-4318C>A
c.3215-4318C>A (n.3215-4318C>A)
c.3787C>A (p.Leu1263Ile)
c.1819C>A (p.Leu607Ile)
c.475C>A (p.Leu159Ile)
c.3834C>A
c.4876C>A (p.Leu1626Ile)
c.4330C>A (p.Leu1444Ile)
c.4307-4318C>A (n.4307-4318C>A)
n.194C>A
n.253-4318C>A
n.40-4318C>A
c.563C>A
c.34C>A (p.Leu12Ile)
c.4603C>A (p.Leu1535Ile)
c.4034-4318C>A (n.4034-4318C>A)
c.3238C>A (p.Leu1080Ile)
c.5152C>A (p.Leu1718Ile)
c.3488-4318C>A (n.3488-4318C>A)
c.4879C>A (p.Leu1627Ile)
c.4333C>A (p.Leu1445Ile)
c.4580-4318C>A (n.4580-4318C>A)
c.4060C>A (p.Leu1354Ile)
c.3761-4318C>A (n.3761-4318C>A)
c.3511C>A (p.Leu1171Ile)
c.5425C>A (p.Leu1809Ile)
c.5149C>A (p.Leu1717Ile)
 gnomAD v4 COSMIC
9g.115046660G>ACA5207796TNCc.318-4319C>T
c.3215-4319C>T (n.3215-4319C>T)
c.3786C>T (p.Asn1262=)
c.1818C>T (p.Asn606=)
c.474C>T (p.Asn158=)
c.3833C>T
c.4875C>T (p.Asn1625=)
c.4329C>T (p.Asn1443=)
c.4307-4319C>T (n.4307-4319C>T)
n.193C>T
n.253-4319C>T
n.40-4319C>T
c.562C>T
c.33C>T (p.Asn11=)
c.4602C>T (p.Asn1534=)
c.4034-4319C>T (n.4034-4319C>T)
c.3237C>T (p.Asn1079=)
c.5151C>T (p.Asn1717=)
c.3488-4319C>T (n.3488-4319C>T)
c.4878C>T (p.Asn1626=)
c.4332C>T (p.Asn1444=)
c.4580-4319C>T (n.4580-4319C>T)
c.4059C>T (p.Asn1353=)
c.3761-4319C>T (n.3761-4319C>T)
c.3510C>T (p.Asn1170=)
c.5424C>T (p.Asn1808=)
c.5148C>T (p.Asn1716=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046660G>CCA374631412TNCc.318-4319C>G
c.3215-4319C>G (n.3215-4319C>G)
c.3786C>G (p.Asn1262Lys)
c.1818C>G (p.Asn606Lys)
c.474C>G (p.Asn158Lys)
c.3833C>G
c.4875C>G (p.Asn1625Lys)
c.4329C>G (p.Asn1443Lys)
c.4307-4319C>G (n.4307-4319C>G)
n.193C>G
n.253-4319C>G
n.40-4319C>G
c.562C>G
c.33C>G (p.Asn11Lys)
c.4602C>G (p.Asn1534Lys)
c.4034-4319C>G (n.4034-4319C>G)
c.3237C>G (p.Asn1079Lys)
c.5151C>G (p.Asn1717Lys)
c.3488-4319C>G (n.3488-4319C>G)
c.4878C>G (p.Asn1626Lys)
c.4332C>G (p.Asn1444Lys)
c.4580-4319C>G (n.4580-4319C>G)
c.4059C>G (p.Asn1353Lys)
c.3761-4319C>G (n.3761-4319C>G)
c.3510C>G (p.Asn1170Lys)
c.5424C>G (p.Asn1808Lys)
c.5148C>G (p.Asn1716Lys)
9g.115046660G=CA1874118962TNCc.318-4319C=
c.3215-4319C= (n.3215-4319C=)
c.3786C= (p.Asn1262=)
c.1818C= (p.Asn606=)
c.474C= (p.Asn158=)
c.3833C=
c.4875C= (p.Asn1625=)
c.4329C= (p.Asn1443=)
c.4307-4319C= (n.4307-4319C=)
n.193C=
n.253-4319C=
n.40-4319C=
c.562C=
c.33C= (p.Asn11=)
c.4602C= (p.Asn1534=)
c.4034-4319C= (n.4034-4319C=)
c.3237C= (p.Asn1079=)
c.5151C= (p.Asn1717=)
c.3488-4319C= (n.3488-4319C=)
c.4878C= (p.Asn1626=)
c.4332C= (p.Asn1444=)
c.4580-4319C= (n.4580-4319C=)
c.4059C= (p.Asn1353=)
c.3761-4319C= (n.3761-4319C=)
c.3510C= (p.Asn1170=)
c.5424C= (p.Asn1808=)
c.5148C= (p.Asn1716=)
9g.115046660G>TCA374631414TNCc.318-4319C>A
c.3215-4319C>A (n.3215-4319C>A)
c.3786C>A (p.Asn1262Lys)
c.1818C>A (p.Asn606Lys)
c.474C>A (p.Asn158Lys)
c.3833C>A
c.4875C>A (p.Asn1625Lys)
c.4329C>A (p.Asn1443Lys)
c.4307-4319C>A (n.4307-4319C>A)
n.193C>A
n.253-4319C>A
n.40-4319C>A
c.562C>A
c.33C>A (p.Asn11Lys)
c.4602C>A (p.Asn1534Lys)
c.4034-4319C>A (n.4034-4319C>A)
c.3237C>A (p.Asn1079Lys)
c.5151C>A (p.Asn1717Lys)
c.3488-4319C>A (n.3488-4319C>A)
c.4878C>A (p.Asn1626Lys)
c.4332C>A (p.Asn1444Lys)
c.4580-4319C>A (n.4580-4319C>A)
c.4059C>A (p.Asn1353Lys)
c.3761-4319C>A (n.3761-4319C>A)
c.3510C>A (p.Asn1170Lys)
c.5424C>A (p.Asn1808Lys)
c.5148C>A (p.Asn1716Lys)
9g.115046661T>ACA374631419TNCc.318-4320A>T
c.3215-4320A>T (n.3215-4320A>T)
c.3785A>T (p.Asn1262Ile)
c.1817A>T (p.Asn606Ile)
c.473A>T (p.Asn158Ile)
c.3832A>T
c.4874A>T (p.Asn1625Ile)
c.4328A>T (p.Asn1443Ile)
c.4307-4320A>T (n.4307-4320A>T)
n.192A>T
n.253-4320A>T
n.40-4320A>T
c.561A>T
c.32A>T (p.Asn11Ile)
c.4601A>T (p.Asn1534Ile)
c.4034-4320A>T (n.4034-4320A>T)
c.3236A>T (p.Asn1079Ile)
c.5150A>T (p.Asn1717Ile)
c.3488-4320A>T (n.3488-4320A>T)
c.4877A>T (p.Asn1626Ile)
c.4331A>T (p.Asn1444Ile)
c.4580-4320A>T (n.4580-4320A>T)
c.4058A>T (p.Asn1353Ile)
c.3761-4320A>T (n.3761-4320A>T)
c.3509A>T (p.Asn1170Ile)
c.5423A>T (p.Asn1808Ile)
c.5147A>T (p.Asn1716Ile)
9g.115046661T>CCA374631418TNCc.318-4320A>G
c.3215-4320A>G (n.3215-4320A>G)
c.3785A>G (p.Asn1262Ser)
c.1817A>G (p.Asn606Ser)
c.473A>G (p.Asn158Ser)
c.3832A>G
c.4874A>G (p.Asn1625Ser)
c.4328A>G (p.Asn1443Ser)
c.4307-4320A>G (n.4307-4320A>G)
n.192A>G
n.253-4320A>G
n.40-4320A>G
c.561A>G
c.32A>G (p.Asn11Ser)
c.4601A>G (p.Asn1534Ser)
c.4034-4320A>G (n.4034-4320A>G)
c.3236A>G (p.Asn1079Ser)
c.5150A>G (p.Asn1717Ser)
c.3488-4320A>G (n.3488-4320A>G)
c.4877A>G (p.Asn1626Ser)
c.4331A>G (p.Asn1444Ser)
c.4580-4320A>G (n.4580-4320A>G)
c.4058A>G (p.Asn1353Ser)
c.3761-4320A>G (n.3761-4320A>G)
c.3509A>G (p.Asn1170Ser)
c.5423A>G (p.Asn1808Ser)
c.5147A>G (p.Asn1716Ser)
9g.115046661T>GCA374631416TNCc.318-4320A>C
c.3215-4320A>C (n.3215-4320A>C)
c.3785A>C (p.Asn1262Thr)
c.1817A>C (p.Asn606Thr)
c.473A>C (p.Asn158Thr)
c.3832A>C
c.4874A>C (p.Asn1625Thr)
c.4328A>C (p.Asn1443Thr)
c.4307-4320A>C (n.4307-4320A>C)
n.192A>C
n.253-4320A>C
n.40-4320A>C
c.561A>C
c.32A>C (p.Asn11Thr)
c.4601A>C (p.Asn1534Thr)
c.4034-4320A>C (n.4034-4320A>C)
c.3236A>C (p.Asn1079Thr)
c.5150A>C (p.Asn1717Thr)
c.3488-4320A>C (n.3488-4320A>C)
c.4877A>C (p.Asn1626Thr)
c.4331A>C (p.Asn1444Thr)
c.4580-4320A>C (n.4580-4320A>C)
c.4058A>C (p.Asn1353Thr)
c.3761-4320A>C (n.3761-4320A>C)
c.3509A>C (p.Asn1170Thr)
c.5423A>C (p.Asn1808Thr)
c.5147A>C (p.Asn1716Thr)
9g.115046662T>ACA374631421TNCc.318-4321A>T
c.3215-4321A>T (n.3215-4321A>T)
c.3784A>T (p.Asn1262Tyr)
c.1816A>T (p.Asn606Tyr)
c.472A>T (p.Asn158Tyr)
c.3831A>T
c.4873A>T (p.Asn1625Tyr)
c.4327A>T (p.Asn1443Tyr)
c.4307-4321A>T (n.4307-4321A>T)
n.191A>T
n.253-4321A>T
n.40-4321A>T
c.560A>T
c.31A>T (p.Asn11Tyr)
c.4600A>T (p.Asn1534Tyr)
c.4034-4321A>T (n.4034-4321A>T)
c.3235A>T (p.Asn1079Tyr)
c.5149A>T (p.Asn1717Tyr)
c.3488-4321A>T (n.3488-4321A>T)
c.4876A>T (p.Asn1626Tyr)
c.4330A>T (p.Asn1444Tyr)
c.4580-4321A>T (n.4580-4321A>T)
c.4057A>T (p.Asn1353Tyr)
c.3761-4321A>T (n.3761-4321A>T)
c.3508A>T (p.Asn1170Tyr)
c.5422A>T (p.Asn1808Tyr)
c.5146A>T (p.Asn1716Tyr)
9g.115046662T>CCA374631423TNCc.318-4321A>G
c.3215-4321A>G (n.3215-4321A>G)
c.3784A>G (p.Asn1262Asp)
c.1816A>G (p.Asn606Asp)
c.472A>G (p.Asn158Asp)
c.3831A>G
c.4873A>G (p.Asn1625Asp)
c.4327A>G (p.Asn1443Asp)
c.4307-4321A>G (n.4307-4321A>G)
n.191A>G
n.253-4321A>G
n.40-4321A>G
c.560A>G
c.31A>G (p.Asn11Asp)
c.4600A>G (p.Asn1534Asp)
c.4034-4321A>G (n.4034-4321A>G)
c.3235A>G (p.Asn1079Asp)
c.5149A>G (p.Asn1717Asp)
c.3488-4321A>G (n.3488-4321A>G)
c.4876A>G (p.Asn1626Asp)
c.4330A>G (p.Asn1444Asp)
c.4580-4321A>G (n.4580-4321A>G)
c.4057A>G (p.Asn1353Asp)
c.3761-4321A>G (n.3761-4321A>G)
c.3508A>G (p.Asn1170Asp)
c.5422A>G (p.Asn1808Asp)
c.5146A>G (p.Asn1716Asp)
 gnomAD v4
9g.115046662T>GCA374631424TNCc.318-4321A>C
c.3215-4321A>C (n.3215-4321A>C)
c.3784A>C (p.Asn1262His)
c.1816A>C (p.Asn606His)
c.472A>C (p.Asn158His)
c.3831A>C
c.4873A>C (p.Asn1625His)
c.4327A>C (p.Asn1443His)
c.4307-4321A>C (n.4307-4321A>C)
n.191A>C
n.253-4321A>C
n.40-4321A>C
c.560A>C
c.31A>C (p.Asn11His)
c.4600A>C (p.Asn1534His)
c.4034-4321A>C (n.4034-4321A>C)
c.3235A>C (p.Asn1079His)
c.5149A>C (p.Asn1717His)
c.3488-4321A>C (n.3488-4321A>C)
c.4876A>C (p.Asn1626His)
c.4330A>C (p.Asn1444His)
c.4580-4321A>C (n.4580-4321A>C)
c.4057A>C (p.Asn1353His)
c.3761-4321A>C (n.3761-4321A>C)
c.3508A>C (p.Asn1170His)
c.5422A>C (p.Asn1808His)
c.5146A>C (p.Asn1716His)
9g.115046663G>ACA466912247TNCc.318-4322C>T
c.3215-4322C>T (n.3215-4322C>T)
c.3783C>T (p.Asp1261=)
c.1815C>T (p.Asp605=)
c.471C>T (p.Asp157=)
c.3830C>T
c.4872C>T (p.Asp1624=)
c.4326C>T (p.Asp1442=)
c.4307-4322C>T (n.4307-4322C>T)
n.190C>T
n.253-4322C>T
n.40-4322C>T
c.559C>T
c.30C>T (p.Asp10=)
c.4599C>T (p.Asp1533=)
c.4034-4322C>T (n.4034-4322C>T)
c.3234C>T (p.Asp1078=)
c.5148C>T (p.Asp1716=)
c.3488-4322C>T (n.3488-4322C>T)
c.4875C>T (p.Asp1625=)
c.4329C>T (p.Asp1443=)
c.4580-4322C>T (n.4580-4322C>T)
c.4056C>T (p.Asp1352=)
c.3761-4322C>T (n.3761-4322C>T)
c.3507C>T (p.Asp1169=)
c.5421C>T (p.Asp1807=)
c.5145C>T (p.Asp1715=)
 dbSNP gnomAD v2 gnomAD v4
9g.115046663G>CCA374631426TNCc.318-4322C>G
c.3215-4322C>G (n.3215-4322C>G)
c.3783C>G (p.Asp1261Glu)
c.1815C>G (p.Asp605Glu)
c.471C>G (p.Asp157Glu)
c.3830C>G
c.4872C>G (p.Asp1624Glu)
c.4326C>G (p.Asp1442Glu)
c.4307-4322C>G (n.4307-4322C>G)
n.190C>G
n.253-4322C>G
n.40-4322C>G
c.559C>G
c.30C>G (p.Asp10Glu)
c.4599C>G (p.Asp1533Glu)
c.4034-4322C>G (n.4034-4322C>G)
c.3234C>G (p.Asp1078Glu)
c.5148C>G (p.Asp1716Glu)
c.3488-4322C>G (n.3488-4322C>G)
c.4875C>G (p.Asp1625Glu)
c.4329C>G (p.Asp1443Glu)
c.4580-4322C>G (n.4580-4322C>G)
c.4056C>G (p.Asp1352Glu)
c.3761-4322C>G (n.3761-4322C>G)
c.3507C>G (p.Asp1169Glu)
c.5421C>G (p.Asp1807Glu)
c.5145C>G (p.Asp1715Glu)
9g.115046663G=CA1874118963TNCc.318-4322C=
c.3215-4322C= (n.3215-4322C=)
c.3783C= (p.Asp1261=)
c.1815C= (p.Asp605=)
c.471C= (p.Asp157=)
c.3830C=
c.4872C= (p.Asp1624=)
c.4326C= (p.Asp1442=)
c.4307-4322C= (n.4307-4322C=)
n.190C=
n.253-4322C=
n.40-4322C=
c.559C=
c.30C= (p.Asp10=)
c.4599C= (p.Asp1533=)
c.4034-4322C= (n.4034-4322C=)
c.3234C= (p.Asp1078=)
c.5148C= (p.Asp1716=)
c.3488-4322C= (n.3488-4322C=)
c.4875C= (p.Asp1625=)
c.4329C= (p.Asp1443=)
c.4580-4322C= (n.4580-4322C=)
c.4056C= (p.Asp1352=)
c.3761-4322C= (n.3761-4322C=)
c.3507C= (p.Asp1169=)
c.5421C= (p.Asp1807=)
c.5145C= (p.Asp1715=)
9g.115046663G>TCA374631428TNCc.318-4322C>A
c.3215-4322C>A (n.3215-4322C>A)
c.3783C>A (p.Asp1261Glu)
c.1815C>A (p.Asp605Glu)
c.471C>A (p.Asp157Glu)
c.3830C>A
c.4872C>A (p.Asp1624Glu)
c.4326C>A (p.Asp1442Glu)
c.4307-4322C>A (n.4307-4322C>A)
n.190C>A
n.253-4322C>A
n.40-4322C>A
c.559C>A
c.30C>A (p.Asp10Glu)
c.4599C>A (p.Asp1533Glu)
c.4034-4322C>A (n.4034-4322C>A)
c.3234C>A (p.Asp1078Glu)
c.5148C>A (p.Asp1716Glu)
c.3488-4322C>A (n.3488-4322C>A)
c.4875C>A (p.Asp1625Glu)
c.4329C>A (p.Asp1443Glu)
c.4580-4322C>A (n.4580-4322C>A)
c.4056C>A (p.Asp1352Glu)
c.3761-4322C>A (n.3761-4322C>A)
c.3507C>A (p.Asp1169Glu)
c.5421C>A (p.Asp1807Glu)
c.5145C>A (p.Asp1715Glu)
9g.115046664T>ACA374631429TNCc.318-4323A>T
c.3215-4323A>T (n.3215-4323A>T)
c.3782A>T (p.Asp1261Val)
c.1814A>T (p.Asp605Val)
c.470A>T (p.Asp157Val)
c.3829A>T
c.4871A>T (p.Asp1624Val)
c.4325A>T (p.Asp1442Val)
c.4307-4323A>T (n.4307-4323A>T)
n.189A>T
n.253-4323A>T
n.40-4323A>T
c.558A>T
c.29A>T (p.Asp10Val)
c.4598A>T (p.Asp1533Val)
c.4034-4323A>T (n.4034-4323A>T)
c.3233A>T (p.Asp1078Val)
c.5147A>T (p.Asp1716Val)
c.3488-4323A>T (n.3488-4323A>T)
c.4874A>T (p.Asp1625Val)
c.4328A>T (p.Asp1443Val)
c.4580-4323A>T (n.4580-4323A>T)
c.4055A>T (p.Asp1352Val)
c.3761-4323A>T (n.3761-4323A>T)
c.3506A>T (p.Asp1169Val)
c.5420A>T (p.Asp1807Val)
c.5144A>T (p.Asp1715Val)
9g.115046664T>CCA374631431TNCc.318-4323A>G
c.3215-4323A>G (n.3215-4323A>G)
c.3782A>G (p.Asp1261Gly)
c.1814A>G (p.Asp605Gly)
c.470A>G (p.Asp157Gly)
c.3829A>G
c.4871A>G (p.Asp1624Gly)
c.4325A>G (p.Asp1442Gly)
c.4307-4323A>G (n.4307-4323A>G)
n.189A>G
n.253-4323A>G
n.40-4323A>G
c.558A>G
c.29A>G (p.Asp10Gly)
c.4598A>G (p.Asp1533Gly)
c.4034-4323A>G (n.4034-4323A>G)
c.3233A>G (p.Asp1078Gly)
c.5147A>G (p.Asp1716Gly)
c.3488-4323A>G (n.3488-4323A>G)
c.4874A>G (p.Asp1625Gly)
c.4328A>G (p.Asp1443Gly)
c.4580-4323A>G (n.4580-4323A>G)
c.4055A>G (p.Asp1352Gly)
c.3761-4323A>G (n.3761-4323A>G)
c.3506A>G (p.Asp1169Gly)
c.5420A>G (p.Asp1807Gly)
c.5144A>G (p.Asp1715Gly)
 dbSNP
9g.115046664T>GCA374631432TNCc.318-4323A>C
c.3215-4323A>C (n.3215-4323A>C)
c.3782A>C (p.Asp1261Ala)
c.1814A>C (p.Asp605Ala)
c.470A>C (p.Asp157Ala)
c.3829A>C
c.4871A>C (p.Asp1624Ala)
c.4325A>C (p.Asp1442Ala)
c.4307-4323A>C (n.4307-4323A>C)
n.189A>C
n.253-4323A>C
n.40-4323A>C
c.558A>C
c.29A>C (p.Asp10Ala)
c.4598A>C (p.Asp1533Ala)
c.4034-4323A>C (n.4034-4323A>C)
c.3233A>C (p.Asp1078Ala)
c.5147A>C (p.Asp1716Ala)
c.3488-4323A>C (n.3488-4323A>C)
c.4874A>C (p.Asp1625Ala)
c.4328A>C (p.Asp1443Ala)
c.4580-4323A>C (n.4580-4323A>C)
c.4055A>C (p.Asp1352Ala)
c.3761-4323A>C (n.3761-4323A>C)
c.3506A>C (p.Asp1169Ala)
c.5420A>C (p.Asp1807Ala)
c.5144A>C (p.Asp1715Ala)
9g.115046664T=CA1874118964TNCc.318-4323A=
c.3215-4323A= (n.3215-4323A=)
c.3782A= (p.Asp1261=)
c.1814A= (p.Asp605=)
c.470A= (p.Asp157=)
c.3829A=
c.4871A= (p.Asp1624=)
c.4325A= (p.Asp1442=)
c.4307-4323A= (n.4307-4323A=)
n.189A=
n.253-4323A=
n.40-4323A=
c.558A=
c.29A= (p.Asp10=)
c.4598A= (p.Asp1533=)
c.4034-4323A= (n.4034-4323A=)
c.3233A= (p.Asp1078=)
c.5147A= (p.Asp1716=)
c.3488-4323A= (n.3488-4323A=)
c.4874A= (p.Asp1625=)
c.4328A= (p.Asp1443=)
c.4580-4323A= (n.4580-4323A=)
c.4055A= (p.Asp1352=)
c.3761-4323A= (n.3761-4323A=)
c.3506A= (p.Asp1169=)
c.5420A= (p.Asp1807=)
c.5144A= (p.Asp1715=)
9g.115046665C>ACA374631434TNCc.318-4324G>T
c.3215-4324G>T (n.3215-4324G>T)
c.3781G>T (p.Asp1261Tyr)
c.1813G>T (p.Asp605Tyr)
c.469G>T (p.Asp157Tyr)
c.3828G>T
c.4870G>T (p.Asp1624Tyr)
c.4324G>T (p.Asp1442Tyr)
c.4307-4324G>T (n.4307-4324G>T)
n.188G>T
n.253-4324G>T
n.40-4324G>T
c.557G>T
c.28G>T (p.Asp10Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4034-4324G>T (n.4034-4324G>T)
c.3232G>T (p.Asp1078Tyr)
c.5146G>T (p.Asp1716Tyr)
c.3488-4324G>T (n.3488-4324G>T)
c.4873G>T (p.Asp1625Tyr)
c.4327G>T (p.Asp1443Tyr)
c.4580-4324G>T (n.4580-4324G>T)
c.4054G>T (p.Asp1352Tyr)
c.3761-4324G>T (n.3761-4324G>T)
c.3505G>T (p.Asp1169Tyr)
c.5419G>T (p.Asp1807Tyr)
c.5143G>T (p.Asp1715Tyr)
9g.115046665C>GCA374631436TNCc.318-4324G>C
c.3215-4324G>C (n.3215-4324G>C)
c.3781G>C (p.Asp1261His)
c.1813G>C (p.Asp605His)
c.469G>C (p.Asp157His)
c.3828G>C
c.4870G>C (p.Asp1624His)
c.4324G>C (p.Asp1442His)
c.4307-4324G>C (n.4307-4324G>C)
n.188G>C
n.253-4324G>C
n.40-4324G>C
c.557G>C
c.28G>C (p.Asp10His)
c.4597G>C (p.Asp1533His)
c.4034-4324G>C (n.4034-4324G>C)
c.3232G>C (p.Asp1078His)
c.5146G>C (p.Asp1716His)
c.3488-4324G>C (n.3488-4324G>C)
c.4873G>C (p.Asp1625His)
c.4327G>C (p.Asp1443His)
c.4580-4324G>C (n.4580-4324G>C)
c.4054G>C (p.Asp1352His)
c.3761-4324G>C (n.3761-4324G>C)
c.3505G>C (p.Asp1169His)
c.5419G>C (p.Asp1807His)
c.5143G>C (p.Asp1715His)
9g.115046665C>TCA374631437TNCc.318-4324G>A
c.3215-4324G>A (n.3215-4324G>A)
c.3781G>A (p.Asp1261Asn)
c.1813G>A (p.Asp605Asn)
c.469G>A (p.Asp157Asn)
c.3828G>A
c.4870G>A (p.Asp1624Asn)
c.4324G>A (p.Asp1442Asn)
c.4307-4324G>A (n.4307-4324G>A)
n.188G>A
n.253-4324G>A
n.40-4324G>A
c.557G>A
c.28G>A (p.Asp10Asn)
c.4597G>A (p.Asp1533Asn)
c.4034-4324G>A (n.4034-4324G>A)
c.3232G>A (p.Asp1078Asn)
c.5146G>A (p.Asp1716Asn)
c.3488-4324G>A (n.3488-4324G>A)
c.4873G>A (p.Asp1625Asn)
c.4327G>A (p.Asp1443Asn)
c.4580-4324G>A (n.4580-4324G>A)
c.4054G>A (p.Asp1352Asn)
c.3761-4324G>A (n.3761-4324G>A)
c.3505G>A (p.Asp1169Asn)
c.5419G>A (p.Asp1807Asn)
c.5143G>A (p.Asp1715Asn)
9g.115046666A>CCA466912250TNCc.318-4325T>G
c.3215-4325T>G (n.3215-4325T>G)
c.3780T>G (p.Val1260=)
c.1812T>G (p.Val604=)
c.468T>G (p.Val156=)
c.3827T>G
c.4869T>G (p.Val1623=)
c.4323T>G (p.Val1441=)
c.4307-4325T>G (n.4307-4325T>G)
n.187T>G
n.253-4325T>G
n.40-4325T>G
c.556T>G
c.27T>G (p.Val9=)
c.4596T>G (p.Val1532=)
c.4034-4325T>G (n.4034-4325T>G)
c.3231T>G (p.Val1077=)
c.5145T>G (p.Val1715=)
c.3488-4325T>G (n.3488-4325T>G)
c.4872T>G (p.Val1624=)
c.4326T>G (p.Val1442=)
c.4580-4325T>G (n.4580-4325T>G)
c.4053T>G (p.Val1351=)
c.3761-4325T>G (n.3761-4325T>G)
c.3504T>G (p.Val1168=)
c.5418T>G (p.Val1806=)
c.5142T>G (p.Val1714=)
9g.115046666A>GCA466912252TNCc.318-4325T>C
c.3215-4325T>C (n.3215-4325T>C)
c.3780T>C (p.Val1260=)
c.1812T>C (p.Val604=)
c.468T>C (p.Val156=)
c.3827T>C
c.4869T>C (p.Val1623=)
c.4323T>C (p.Val1441=)
c.4307-4325T>C (n.4307-4325T>C)
n.187T>C
n.253-4325T>C
n.40-4325T>C
c.556T>C
c.27T>C (p.Val9=)
c.4596T>C (p.Val1532=)
c.4034-4325T>C (n.4034-4325T>C)
c.3231T>C (p.Val1077=)
c.5145T>C (p.Val1715=)
c.3488-4325T>C (n.3488-4325T>C)
c.4872T>C (p.Val1624=)
c.4326T>C (p.Val1442=)
c.4580-4325T>C (n.4580-4325T>C)
c.4053T>C (p.Val1351=)
c.3761-4325T>C (n.3761-4325T>C)
c.3504T>C (p.Val1168=)
c.5418T>C (p.Val1806=)
c.5142T>C (p.Val1714=)
9g.115046666A>TCA466912254TNCc.318-4325T>A
c.3215-4325T>A (n.3215-4325T>A)
c.3780T>A (p.Val1260=)
c.1812T>A (p.Val604=)
c.468T>A (p.Val156=)
c.3827T>A
c.4869T>A (p.Val1623=)
c.4323T>A (p.Val1441=)
c.4307-4325T>A (n.4307-4325T>A)
n.187T>A
n.253-4325T>A
n.40-4325T>A
c.556T>A
c.27T>A (p.Val9=)
c.4596T>A (p.Val1532=)
c.4034-4325T>A (n.4034-4325T>A)
c.3231T>A (p.Val1077=)
c.5145T>A (p.Val1715=)
c.3488-4325T>A (n.3488-4325T>A)
c.4872T>A (p.Val1624=)
c.4326T>A (p.Val1442=)
c.4580-4325T>A (n.4580-4325T>A)
c.4053T>A (p.Val1351=)
c.3761-4325T>A (n.3761-4325T>A)
c.3504T>A (p.Val1168=)
c.5418T>A (p.Val1806=)
c.5142T>A (p.Val1714=)
9g.115046667A>CCA374631442TNCc.318-4326T>G
c.3215-4326T>G (n.3215-4326T>G)
c.3779T>G (p.Val1260Gly)
c.1811T>G (p.Val604Gly)
c.467T>G (p.Val156Gly)
c.3826T>G
c.4868T>G (p.Val1623Gly)
c.4322T>G (p.Val1441Gly)
c.4307-4326T>G (n.4307-4326T>G)
n.186T>G
n.253-4326T>G
n.40-4326T>G
c.555T>G
c.26T>G (p.Val9Gly)
c.4595T>G (p.Val1532Gly)
c.4034-4326T>G (n.4034-4326T>G)
c.3230T>G (p.Val1077Gly)
c.5144T>G (p.Val1715Gly)
c.3488-4326T>G (n.3488-4326T>G)
c.4871T>G (p.Val1624Gly)
c.4325T>G (p.Val1442Gly)
c.4580-4326T>G (n.4580-4326T>G)
c.4052T>G (p.Val1351Gly)
c.3761-4326T>G (n.3761-4326T>G)
c.3503T>G (p.Val1168Gly)
c.5417T>G (p.Val1806Gly)
c.5141T>G (p.Val1714Gly)
9g.115046667A>GCA374631441TNCc.318-4326T>C
c.3215-4326T>C (n.3215-4326T>C)
c.3779T>C (p.Val1260Ala)
c.1811T>C (p.Val604Ala)
c.467T>C (p.Val156Ala)
c.3826T>C
c.4868T>C (p.Val1623Ala)
c.4322T>C (p.Val1441Ala)
c.4307-4326T>C (n.4307-4326T>C)
n.186T>C
n.253-4326T>C
n.40-4326T>C
c.555T>C
c.26T>C (p.Val9Ala)
c.4595T>C (p.Val1532Ala)
c.4034-4326T>C (n.4034-4326T>C)
c.3230T>C (p.Val1077Ala)
c.5144T>C (p.Val1715Ala)
c.3488-4326T>C (n.3488-4326T>C)
c.4871T>C (p.Val1624Ala)
c.4325T>C (p.Val1442Ala)
c.4580-4326T>C (n.4580-4326T>C)
c.4052T>C (p.Val1351Ala)
c.3761-4326T>C (n.3761-4326T>C)
c.3503T>C (p.Val1168Ala)
c.5417T>C (p.Val1806Ala)
c.5141T>C (p.Val1714Ala)
9g.115046667A>TCA374631439TNCc.318-4326T>A
c.3215-4326T>A (n.3215-4326T>A)
c.3779T>A (p.Val1260Asp)
c.1811T>A (p.Val604Asp)
c.467T>A (p.Val156Asp)
c.3826T>A
c.4868T>A (p.Val1623Asp)
c.4322T>A (p.Val1441Asp)
c.4307-4326T>A (n.4307-4326T>A)
n.186T>A
n.253-4326T>A
n.40-4326T>A
c.555T>A
c.26T>A (p.Val9Asp)
c.4595T>A (p.Val1532Asp)
c.4034-4326T>A (n.4034-4326T>A)
c.3230T>A (p.Val1077Asp)
c.5144T>A (p.Val1715Asp)
c.3488-4326T>A (n.3488-4326T>A)
c.4871T>A (p.Val1624Asp)
c.4325T>A (p.Val1442Asp)
c.4580-4326T>A (n.4580-4326T>A)
c.4052T>A (p.Val1351Asp)
c.3761-4326T>A (n.3761-4326T>A)
c.3503T>A (p.Val1168Asp)
c.5417T>A (p.Val1806Asp)
c.5141T>A (p.Val1714Asp)
9g.115046668C>ACA374631443TNCc.318-4327G>T
c.3215-4327G>T (n.3215-4327G>T)
c.3778G>T (p.Val1260Phe)
c.1810G>T (p.Val604Phe)
c.466G>T (p.Val156Phe)
c.3825G>T
c.4867G>T (p.Val1623Phe)
c.4321G>T (p.Val1441Phe)
c.4307-4327G>T (n.4307-4327G>T)
n.185G>T
n.253-4327G>T
n.40-4327G>T
c.554G>T
c.25G>T (p.Val9Phe)
c.4594G>T (p.Val1532Phe)
c.4034-4327G>T (n.4034-4327G>T)
c.3229G>T (p.Val1077Phe)
c.5143G>T (p.Val1715Phe)
c.3488-4327G>T (n.3488-4327G>T)
c.4870G>T (p.Val1624Phe)
c.4324G>T (p.Val1442Phe)
c.4580-4327G>T (n.4580-4327G>T)
c.4051G>T (p.Val1351Phe)
c.3761-4327G>T (n.3761-4327G>T)
c.3502G>T (p.Val1168Phe)
c.5416G>T (p.Val1806Phe)
c.5140G>T (p.Val1714Phe)
9g.115046668C=CA1874118965TNCc.318-4327G=
c.3215-4327G= (n.3215-4327G=)
c.3778G= (p.Val1260=)
c.1810G= (p.Val604=)
c.466G= (p.Val156=)
c.3825G=
c.4867G= (p.Val1623=)
c.4321G= (p.Val1441=)
c.4307-4327G= (n.4307-4327G=)
n.185G=
n.253-4327G=
n.40-4327G=
c.554G=
c.25G= (p.Val9=)
c.4594G= (p.Val1532=)
c.4034-4327G= (n.4034-4327G=)
c.3229G= (p.Val1077=)
c.5143G= (p.Val1715=)
c.3488-4327G= (n.3488-4327G=)
c.4870G= (p.Val1624=)
c.4324G= (p.Val1442=)
c.4580-4327G= (n.4580-4327G=)
c.4051G= (p.Val1351=)
c.3761-4327G= (n.3761-4327G=)
c.3502G= (p.Val1168=)
c.5416G= (p.Val1806=)
c.5140G= (p.Val1714=)
9g.115046668C>GCA374631444TNCc.318-4327G>C
c.3215-4327G>C (n.3215-4327G>C)
c.3778G>C (p.Val1260Leu)
c.1810G>C (p.Val604Leu)
c.466G>C (p.Val156Leu)
c.3825G>C
c.4867G>C (p.Val1623Leu)
c.4321G>C (p.Val1441Leu)
c.4307-4327G>C (n.4307-4327G>C)
n.185G>C
n.253-4327G>C
n.40-4327G>C
c.554G>C
c.25G>C (p.Val9Leu)
c.4594G>C (p.Val1532Leu)
c.4034-4327G>C (n.4034-4327G>C)
c.3229G>C (p.Val1077Leu)
c.5143G>C (p.Val1715Leu)
c.3488-4327G>C (n.3488-4327G>C)
c.4870G>C (p.Val1624Leu)
c.4324G>C (p.Val1442Leu)
c.4580-4327G>C (n.4580-4327G>C)
c.4051G>C (p.Val1351Leu)
c.3761-4327G>C (n.3761-4327G>C)
c.3502G>C (p.Val1168Leu)
c.5416G>C (p.Val1806Leu)
c.5140G>C (p.Val1714Leu)
9g.115046668C>TCA5207797TNCc.318-4327G>A
c.3215-4327G>A (n.3215-4327G>A)
c.3778G>A (p.Val1260Ile)
c.1810G>A (p.Val604Ile)
c.466G>A (p.Val156Ile)
c.3825G>A
c.4867G>A (p.Val1623Ile)
c.4321G>A (p.Val1441Ile)
c.4307-4327G>A (n.4307-4327G>A)
n.185G>A
n.253-4327G>A
n.40-4327G>A
c.554G>A
c.25G>A (p.Val9Ile)
c.4594G>A (p.Val1532Ile)
c.4034-4327G>A (n.4034-4327G>A)
c.3229G>A (p.Val1077Ile)
c.5143G>A (p.Val1715Ile)
c.3488-4327G>A (n.3488-4327G>A)
c.4870G>A (p.Val1624Ile)
c.4324G>A (p.Val1442Ile)
c.4580-4327G>A (n.4580-4327G>A)
c.4051G>A (p.Val1351Ile)
c.3761-4327G>A (n.3761-4327G>A)
c.3502G>A (p.Val1168Ile)
c.5416G>A (p.Val1806Ile)
c.5140G>A (p.Val1714Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046669T>ACA374631447TNCc.318-4328A>T
c.3215-4328A>T (n.3215-4328A>T)
c.3777A>T (p.Glu1259Asp)
c.1809A>T (p.Glu603Asp)
c.465A>T (p.Glu155Asp)
c.3824A>T
c.4866A>T (p.Glu1622Asp)
c.4320A>T (p.Glu1440Asp)
c.4307-4328A>T (n.4307-4328A>T)
n.184A>T
n.253-4328A>T
n.40-4328A>T
c.553A>T
c.24A>T (p.Glu8Asp)
c.4593A>T (p.Glu1531Asp)
c.4034-4328A>T (n.4034-4328A>T)
c.3228A>T (p.Glu1076Asp)
c.5142A>T (p.Glu1714Asp)
c.3488-4328A>T (n.3488-4328A>T)
c.4869A>T (p.Glu1623Asp)
c.4323A>T (p.Glu1441Asp)
c.4580-4328A>T (n.4580-4328A>T)
c.4050A>T (p.Glu1350Asp)
c.3761-4328A>T (n.3761-4328A>T)
c.3501A>T (p.Glu1167Asp)
c.5415A>T (p.Glu1805Asp)
c.5139A>T (p.Glu1713Asp)
9g.115046669T>CCA466912257TNCc.318-4328A>G
c.3215-4328A>G (n.3215-4328A>G)
c.3777A>G (p.Glu1259=)
c.1809A>G (p.Glu603=)
c.465A>G (p.Glu155=)
c.3824A>G
c.4866A>G (p.Glu1622=)
c.4320A>G (p.Glu1440=)
c.4307-4328A>G (n.4307-4328A>G)
n.184A>G
n.253-4328A>G
n.40-4328A>G
c.553A>G
c.24A>G (p.Glu8=)
c.4593A>G (p.Glu1531=)
c.4034-4328A>G (n.4034-4328A>G)
c.3228A>G (p.Glu1076=)
c.5142A>G (p.Glu1714=)
c.3488-4328A>G (n.3488-4328A>G)
c.4869A>G (p.Glu1623=)
c.4323A>G (p.Glu1441=)
c.4580-4328A>G (n.4580-4328A>G)
c.4050A>G (p.Glu1350=)
c.3761-4328A>G (n.3761-4328A>G)
c.3501A>G (p.Glu1167=)
c.5415A>G (p.Glu1805=)
c.5139A>G (p.Glu1713=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.115046669T>GCA374631449TNCc.318-4328A>C
c.3215-4328A>C (n.3215-4328A>C)
c.3777A>C (p.Glu1259Asp)
c.1809A>C (p.Glu603Asp)
c.465A>C (p.Glu155Asp)
c.3824A>C
c.4866A>C (p.Glu1622Asp)
c.4320A>C (p.Glu1440Asp)
c.4307-4328A>C (n.4307-4328A>C)
n.184A>C
n.253-4328A>C
n.40-4328A>C
c.553A>C
c.24A>C (p.Glu8Asp)
c.4593A>C (p.Glu1531Asp)
c.4034-4328A>C (n.4034-4328A>C)
c.3228A>C (p.Glu1076Asp)
c.5142A>C (p.Glu1714Asp)
c.3488-4328A>C (n.3488-4328A>C)
c.4869A>C (p.Glu1623Asp)
c.4323A>C (p.Glu1441Asp)
c.4580-4328A>C (n.4580-4328A>C)
c.4050A>C (p.Glu1350Asp)
c.3761-4328A>C (n.3761-4328A>C)
c.3501A>C (p.Glu1167Asp)
c.5415A>C (p.Glu1805Asp)
c.5139A>C (p.Glu1713Asp)
9g.115046669T=CA1874118966TNCc.318-4328A=
c.3215-4328A= (n.3215-4328A=)
c.3777A= (p.Glu1259=)
c.1809A= (p.Glu603=)
c.465A= (p.Glu155=)
c.3824A=
c.4866A= (p.Glu1622=)
c.4320A= (p.Glu1440=)
c.4307-4328A= (n.4307-4328A=)
n.184A=
n.253-4328A=
n.40-4328A=
c.553A=
c.24A= (p.Glu8=)
c.4593A= (p.Glu1531=)
c.4034-4328A= (n.4034-4328A=)
c.3228A= (p.Glu1076=)
c.5142A= (p.Glu1714=)
c.3488-4328A= (n.3488-4328A=)
c.4869A= (p.Glu1623=)
c.4323A= (p.Glu1441=)
c.4580-4328A= (n.4580-4328A=)
c.4050A= (p.Glu1350=)
c.3761-4328A= (n.3761-4328A=)
c.3501A= (p.Glu1167=)
c.5415A= (p.Glu1805=)
c.5139A= (p.Glu1713=)
9g.115046670T>ACA374631451TNCc.318-4329A>T
c.3215-4329A>T (n.3215-4329A>T)
c.3776A>T (p.Glu1259Val)
c.1808A>T (p.Glu603Val)
c.464A>T (p.Glu155Val)
c.3823A>T
c.4865A>T (p.Glu1622Val)
c.4319A>T (p.Glu1440Val)
c.4307-4329A>T (n.4307-4329A>T)
n.183A>T
n.253-4329A>T
n.40-4329A>T
c.552A>T
c.23A>T (p.Glu8Val)
c.4592A>T (p.Glu1531Val)
c.4034-4329A>T (n.4034-4329A>T)
c.3227A>T (p.Glu1076Val)
c.5141A>T (p.Glu1714Val)
c.3488-4329A>T (n.3488-4329A>T)
c.4868A>T (p.Glu1623Val)
c.4322A>T (p.Glu1441Val)
c.4580-4329A>T (n.4580-4329A>T)
c.4049A>T (p.Glu1350Val)
c.3761-4329A>T (n.3761-4329A>T)
c.3500A>T (p.Glu1167Val)
c.5414A>T (p.Glu1805Val)
c.5138A>T (p.Glu1713Val)
9g.115046670T>CCA374631452TNCc.318-4329A>G
c.3215-4329A>G (n.3215-4329A>G)
c.3776A>G (p.Glu1259Gly)
c.1808A>G (p.Glu603Gly)
c.464A>G (p.Glu155Gly)
c.3823A>G
c.4865A>G (p.Glu1622Gly)
c.4319A>G (p.Glu1440Gly)
c.4307-4329A>G (n.4307-4329A>G)
n.183A>G
n.253-4329A>G
n.40-4329A>G
c.552A>G
c.23A>G (p.Glu8Gly)
c.4592A>G (p.Glu1531Gly)
c.4034-4329A>G (n.4034-4329A>G)
c.3227A>G (p.Glu1076Gly)
c.5141A>G (p.Glu1714Gly)
c.3488-4329A>G (n.3488-4329A>G)
c.4868A>G (p.Glu1623Gly)
c.4322A>G (p.Glu1441Gly)
c.4580-4329A>G (n.4580-4329A>G)
c.4049A>G (p.Glu1350Gly)
c.3761-4329A>G (n.3761-4329A>G)
c.3500A>G (p.Glu1167Gly)
c.5414A>G (p.Glu1805Gly)
c.5138A>G (p.Glu1713Gly)
9g.115046670T>GCA374631454TNCc.318-4329A>C
c.3215-4329A>C (n.3215-4329A>C)
c.3776A>C (p.Glu1259Ala)
c.1808A>C (p.Glu603Ala)
c.464A>C (p.Glu155Ala)
c.3823A>C
c.4865A>C (p.Glu1622Ala)
c.4319A>C (p.Glu1440Ala)
c.4307-4329A>C (n.4307-4329A>C)
n.183A>C
n.253-4329A>C
n.40-4329A>C
c.552A>C
c.23A>C (p.Glu8Ala)
c.4592A>C (p.Glu1531Ala)
c.4034-4329A>C (n.4034-4329A>C)
c.3227A>C (p.Glu1076Ala)
c.5141A>C (p.Glu1714Ala)
c.3488-4329A>C (n.3488-4329A>C)
c.4868A>C (p.Glu1623Ala)
c.4322A>C (p.Glu1441Ala)
c.4580-4329A>C (n.4580-4329A>C)
c.4049A>C (p.Glu1350Ala)
c.3761-4329A>C (n.3761-4329A>C)
c.3500A>C (p.Glu1167Ala)
c.5414A>C (p.Glu1805Ala)
c.5138A>C (p.Glu1713Ala)
9g.115046671C>ACA374631455TNCc.318-4330G>T
c.3215-4330G>T (n.3215-4330G>T)
c.3775G>T (p.Glu1259Ter)
c.1807G>T (p.Glu603Ter)
c.463G>T (p.Glu155Ter)
c.3822G>T
c.4864G>T (p.Glu1622Ter)
c.4318G>T (p.Glu1440Ter)
c.4307-4330G>T (n.4307-4330G>T)
n.182G>T
n.253-4330G>T
n.40-4330G>T
c.551G>T
c.22G>T (p.Glu8Ter)
c.4591G>T (p.Glu1531Ter)
c.4034-4330G>T (n.4034-4330G>T)
c.3226G>T (p.Glu1076Ter)
c.5140G>T (p.Glu1714Ter)
c.3488-4330G>T (n.3488-4330G>T)
c.4867G>T (p.Glu1623Ter)
c.4321G>T (p.Glu1441Ter)
c.4580-4330G>T (n.4580-4330G>T)
c.4048G>T (p.Glu1350Ter)
c.3761-4330G>T (n.3761-4330G>T)
c.3499G>T (p.Glu1167Ter)
c.5413G>T (p.Glu1805Ter)
c.5137G>T (p.Glu1713Ter)
9g.115046671C>GCA374631457TNCc.318-4330G>C
c.3215-4330G>C (n.3215-4330G>C)
c.3775G>C (p.Glu1259Gln)
c.1807G>C (p.Glu603Gln)
c.463G>C (p.Glu155Gln)
c.3822G>C
c.4864G>C (p.Glu1622Gln)
c.4318G>C (p.Glu1440Gln)
c.4307-4330G>C (n.4307-4330G>C)
n.182G>C
n.253-4330G>C
n.40-4330G>C
c.551G>C
c.22G>C (p.Glu8Gln)
c.4591G>C (p.Glu1531Gln)
c.4034-4330G>C (n.4034-4330G>C)
c.3226G>C (p.Glu1076Gln)
c.5140G>C (p.Glu1714Gln)
c.3488-4330G>C (n.3488-4330G>C)
c.4867G>C (p.Glu1623Gln)
c.4321G>C (p.Glu1441Gln)
c.4580-4330G>C (n.4580-4330G>C)
c.4048G>C (p.Glu1350Gln)
c.3761-4330G>C (n.3761-4330G>C)
c.3499G>C (p.Glu1167Gln)
c.5413G>C (p.Glu1805Gln)
c.5137G>C (p.Glu1713Gln)
9g.115046671C>TCA374631459TNCc.318-4330G>A
c.3215-4330G>A (n.3215-4330G>A)
c.3775G>A (p.Glu1259Lys)
c.1807G>A (p.Glu603Lys)
c.463G>A (p.Glu155Lys)
c.3822G>A
c.4864G>A (p.Glu1622Lys)
c.4318G>A (p.Glu1440Lys)
c.4307-4330G>A (n.4307-4330G>A)
n.182G>A
n.253-4330G>A
n.40-4330G>A
c.551G>A
c.22G>A (p.Glu8Lys)
c.4591G>A (p.Glu1531Lys)
c.4034-4330G>A (n.4034-4330G>A)
c.3226G>A (p.Glu1076Lys)
c.5140G>A (p.Glu1714Lys)
c.3488-4330G>A (n.3488-4330G>A)
c.4867G>A (p.Glu1623Lys)
c.4321G>A (p.Glu1441Lys)
c.4580-4330G>A (n.4580-4330G>A)
c.4048G>A (p.Glu1350Lys)
c.3761-4330G>A (n.3761-4330G>A)
c.3499G>A (p.Glu1167Lys)
c.5413G>A (p.Glu1805Lys)
c.5137G>A (p.Glu1713Lys)
9g.115046672C>ACA466912258TNCc.318-4331G>T
c.3215-4331G>T (n.3215-4331G>T)
c.3774G>T (p.Pro1258=)
c.1806G>T (p.Pro602=)
c.462G>T (p.Pro154=)
c.3821G>T
c.4863G>T (p.Pro1621=)
c.4317G>T (p.Pro1439=)
c.4307-4331G>T (n.4307-4331G>T)
n.181G>T
n.253-4331G>T
n.40-4331G>T
c.550G>T
c.21G>T (p.Pro7=)
c.4590G>T (p.Pro1530=)
c.4034-4331G>T (n.4034-4331G>T)
c.3225G>T (p.Pro1075=)
c.5139G>T (p.Pro1713=)
c.3488-4331G>T (n.3488-4331G>T)
c.4866G>T (p.Pro1622=)
c.4320G>T (p.Pro1440=)
c.4580-4331G>T (n.4580-4331G>T)
c.4047G>T (p.Pro1349=)
c.3761-4331G>T (n.3761-4331G>T)
c.3498G>T (p.Pro1166=)
c.5412G>T (p.Pro1804=)
c.5136G>T (p.Pro1712=)
9g.115046672C=CA1874118967TNCc.318-4331G=
c.3215-4331G= (n.3215-4331G=)
c.3774G= (p.Pro1258=)
c.1806G= (p.Pro602=)
c.462G= (p.Pro154=)
c.3821G=
c.4863G= (p.Pro1621=)
c.4317G= (p.Pro1439=)
c.4307-4331G= (n.4307-4331G=)
n.181G=
n.253-4331G=
n.40-4331G=
c.550G=
c.21G= (p.Pro7=)
c.4590G= (p.Pro1530=)
c.4034-4331G= (n.4034-4331G=)
c.3225G= (p.Pro1075=)
c.5139G= (p.Pro1713=)
c.3488-4331G= (n.3488-4331G=)
c.4866G= (p.Pro1622=)
c.4320G= (p.Pro1440=)
c.4580-4331G= (n.4580-4331G=)
c.4047G= (p.Pro1349=)
c.3761-4331G= (n.3761-4331G=)
c.3498G= (p.Pro1166=)
c.5412G= (p.Pro1804=)
c.5136G= (p.Pro1712=)
9g.115046672C>GCA466912259TNCc.318-4331G>C
c.3215-4331G>C (n.3215-4331G>C)
c.3774G>C (p.Pro1258=)
c.1806G>C (p.Pro602=)
c.462G>C (p.Pro154=)
c.3821G>C
c.4863G>C (p.Pro1621=)
c.4317G>C (p.Pro1439=)
c.4307-4331G>C (n.4307-4331G>C)
n.181G>C
n.253-4331G>C
n.40-4331G>C
c.550G>C
c.21G>C (p.Pro7=)
c.4590G>C (p.Pro1530=)
c.4034-4331G>C (n.4034-4331G>C)
c.3225G>C (p.Pro1075=)
c.5139G>C (p.Pro1713=)
c.3488-4331G>C (n.3488-4331G>C)
c.4866G>C (p.Pro1622=)
c.4320G>C (p.Pro1440=)
c.4580-4331G>C (n.4580-4331G>C)
c.4047G>C (p.Pro1349=)
c.3761-4331G>C (n.3761-4331G>C)
c.3498G>C (p.Pro1166=)
c.5412G>C (p.Pro1804=)
c.5136G>C (p.Pro1712=)
9g.115046672C>TCA5207798TNCc.318-4331G>A
c.3215-4331G>A (n.3215-4331G>A)
c.3774G>A (p.Pro1258=)
c.1806G>A (p.Pro602=)
c.462G>A (p.Pro154=)
c.3821G>A
c.4863G>A (p.Pro1621=)
c.4317G>A (p.Pro1439=)
c.4307-4331G>A (n.4307-4331G>A)
n.181G>A
n.253-4331G>A
n.40-4331G>A
c.550G>A
c.21G>A (p.Pro7=)
c.4590G>A (p.Pro1530=)
c.4034-4331G>A (n.4034-4331G>A)
c.3225G>A (p.Pro1075=)
c.5139G>A (p.Pro1713=)
c.3488-4331G>A (n.3488-4331G>A)
c.4866G>A (p.Pro1622=)
c.4320G>A (p.Pro1440=)
c.4580-4331G>A (n.4580-4331G>A)
c.4047G>A (p.Pro1349=)
c.3761-4331G>A (n.3761-4331G>A)
c.3498G>A (p.Pro1166=)
c.5412G>A (p.Pro1804=)
c.5136G>A (p.Pro1712=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115046673G>ACA5207800TNCc.318-4332C>T
c.3215-4332C>T (n.3215-4332C>T)
c.3773C>T (p.Pro1258Leu)
c.1805C>T (p.Pro602Leu)
c.461C>T (p.Pro154Leu)
c.3820C>T
c.4862C>T (p.Pro1621Leu)
c.4316C>T (p.Pro1439Leu)
c.4307-4332C>T (n.4307-4332C>T)
n.180C>T
n.253-4332C>T
n.40-4332C>T
c.549C>T
c.20C>T (p.Pro7Leu)
c.4589C>T (p.Pro1530Leu)
c.4034-4332C>T (n.4034-4332C>T)
c.3224C>T (p.Pro1075Leu)
c.5138C>T (p.Pro1713Leu)
c.3488-4332C>T (n.3488-4332C>T)
c.4865C>T (p.Pro1622Leu)
c.4319C>T (p.Pro1440Leu)
c.4580-4332C>T (n.4580-4332C>T)
c.4046C>T (p.Pro1349Leu)
c.3761-4332C>T (n.3761-4332C>T)
c.3497C>T (p.Pro1166Leu)
c.5411C>T (p.Pro1804Leu)
c.5135C>T (p.Pro1712Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115046673G>CCA374631466TNCc.318-4332C>G
c.3215-4332C>G (n.3215-4332C>G)
c.3773C>G (p.Pro1258Arg)
c.1805C>G (p.Pro602Arg)
c.461C>G (p.Pro154Arg)
c.3820C>G
c.4862C>G (p.Pro1621Arg)
c.4316C>G (p.Pro1439Arg)
c.4307-4332C>G (n.4307-4332C>G)
n.180C>G
n.253-4332C>G
n.40-4332C>G
c.549C>G
c.20C>G (p.Pro7Arg)
c.4589C>G (p.Pro1530Arg)
c.4034-4332C>G (n.4034-4332C>G)
c.3224C>G (p.Pro1075Arg)
c.5138C>G (p.Pro1713Arg)
c.3488-4332C>G (n.3488-4332C>G)
c.4865C>G (p.Pro1622Arg)
c.4319C>G (p.Pro1440Arg)
c.4580-4332C>G (n.4580-4332C>G)
c.4046C>G (p.Pro1349Arg)
c.3761-4332C>G (n.3761-4332C>G)
c.3497C>G (p.Pro1166Arg)
c.5411C>G (p.Pro1804Arg)
c.5135C>G (p.Pro1712Arg)
9g.115046673G=CA1874118968TNCc.318-4332C=
c.3215-4332C= (n.3215-4332C=)
c.3773C= (p.Pro1258=)
c.1805C= (p.Pro602=)
c.461C= (p.Pro154=)
c.3820C=
c.4862C= (p.Pro1621=)
c.4316C= (p.Pro1439=)
c.4307-4332C= (n.4307-4332C=)
n.180C=
n.253-4332C=
n.40-4332C=
c.549C=
c.20C= (p.Pro7=)
c.4589C= (p.Pro1530=)
c.4034-4332C= (n.4034-4332C=)
c.3224C= (p.Pro1075=)
c.5138C= (p.Pro1713=)
c.3488-4332C= (n.3488-4332C=)
c.4865C= (p.Pro1622=)
c.4319C= (p.Pro1440=)
c.4580-4332C= (n.4580-4332C=)
c.4046C= (p.Pro1349=)
c.3761-4332C= (n.3761-4332C=)
c.3497C= (p.Pro1166=)
c.5411C= (p.Pro1804=)
c.5135C= (p.Pro1712=)
9g.115046673G>TCA5207799TNCc.318-4332C>A
c.3215-4332C>A (n.3215-4332C>A)
c.3773C>A (p.Pro1258Gln)
c.1805C>A (p.Pro602Gln)
c.461C>A (p.Pro154Gln)
c.3820C>A
c.4862C>A (p.Pro1621Gln)
c.4316C>A (p.Pro1439Gln)
c.4307-4332C>A (n.4307-4332C>A)
n.180C>A
n.253-4332C>A
n.40-4332C>A
c.549C>A
c.20C>A (p.Pro7Gln)
c.4589C>A (p.Pro1530Gln)
c.4034-4332C>A (n.4034-4332C>A)
c.3224C>A (p.Pro1075Gln)
c.5138C>A (p.Pro1713Gln)
c.3488-4332C>A (n.3488-4332C>A)
c.4865C>A (p.Pro1622Gln)
c.4319C>A (p.Pro1440Gln)
c.4580-4332C>A (n.4580-4332C>A)
c.4046C>A (p.Pro1349Gln)
c.3761-4332C>A (n.3761-4332C>A)
c.3497C>A (p.Pro1166Gln)
c.5411C>A (p.Pro1804Gln)
c.5135C>A (p.Pro1712Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115046674G>ACA374631468TNCc.318-4333C>T
c.3215-4333C>T (n.3215-4333C>T)
c.3772C>T (p.Pro1258Ser)
c.1804C>T (p.Pro602Ser)
c.460C>T (p.Pro154Ser)
c.3819C>T
c.4861C>T (p.Pro1621Ser)
c.4315C>T (p.Pro1439Ser)
c.4307-4333C>T (n.4307-4333C>T)
n.179C>T
n.253-4333C>T
n.40-4333C>T
c.548C>T
c.19C>T (p.Pro7Ser)
c.4588C>T (p.Pro1530Ser)
c.4034-4333C>T (n.4034-4333C>T)
c.3223C>T (p.Pro1075Ser)
c.5137C>T (p.Pro1713Ser)
c.3488-4333C>T (n.3488-4333C>T)
c.4864C>T (p.Pro1622Ser)
c.4318C>T (p.Pro1440Ser)
c.4580-4333C>T (n.4580-4333C>T)
c.4045C>T (p.Pro1349Ser)
c.3761-4333C>T (n.3761-4333C>T)
c.3496C>T (p.Pro1166Ser)
c.5410C>T (p.Pro1804Ser)
c.5134C>T (p.Pro1712Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115046674G>CCA5207801TNCc.318-4333C>G
c.3215-4333C>G (n.3215-4333C>G)
c.3772C>G (p.Pro1258Ala)
c.1804C>G (p.Pro602Ala)
c.460C>G (p.Pro154Ala)
c.3819C>G
c.4861C>G (p.Pro1621Ala)
c.4315C>G (p.Pro1439Ala)
c.4307-4333C>G (n.4307-4333C>G)
n.179C>G
n.253-4333C>G
n.40-4333C>G
c.548C>G
c.19C>G (p.Pro7Ala)
c.4588C>G (p.Pro1530Ala)
c.4034-4333C>G (n.4034-4333C>G)
c.3223C>G (p.Pro1075Ala)
c.5137C>G (p.Pro1713Ala)
c.3488-4333C>G (n.3488-4333C>G)
c.4864C>G (p.Pro1622Ala)
c.4318C>G (p.Pro1440Ala)
c.4580-4333C>G (n.4580-4333C>G)
c.4045C>G (p.Pro1349Ala)
c.3761-4333C>G (n.3761-4333C>G)
c.3496C>G (p.Pro1166Ala)
c.5410C>G (p.Pro1804Ala)
c.5134C>G (p.Pro1712Ala)
 dbSNP ExAC
9g.115046674G=CA1874118969TNCc.318-4333C=
c.3215-4333C= (n.3215-4333C=)
c.3772C= (p.Pro1258=)
c.1804C= (p.Pro602=)
c.460C= (p.Pro154=)
c.3819C=
c.4861C= (p.Pro1621=)
c.4315C= (p.Pro1439=)
c.4307-4333C= (n.4307-4333C=)
n.179C=
n.253-4333C=
n.40-4333C=
c.548C=
c.19C= (p.Pro7=)
c.4588C= (p.Pro1530=)
c.4034-4333C= (n.4034-4333C=)
c.3223C= (p.Pro1075=)
c.5137C= (p.Pro1713=)
c.3488-4333C= (n.3488-4333C=)
c.4864C= (p.Pro1622=)
c.4318C= (p.Pro1440=)
c.4580-4333C= (n.4580-4333C=)
c.4045C= (p.Pro1349=)
c.3761-4333C= (n.3761-4333C=)
c.3496C= (p.Pro1166=)
c.5410C= (p.Pro1804=)
c.5134C= (p.Pro1712=)
9g.115046674G>TCA374631471TNCc.318-4333C>A
c.3215-4333C>A (n.3215-4333C>A)
c.3772C>A (p.Pro1258Thr)
c.1804C>A (p.Pro602Thr)
c.460C>A (p.Pro154Thr)
c.3819C>A
c.4861C>A (p.Pro1621Thr)
c.4315C>A (p.Pro1439Thr)
c.4307-4333C>A (n.4307-4333C>A)
n.179C>A
n.253-4333C>A
n.40-4333C>A
c.548C>A
c.19C>A (p.Pro7Thr)
c.4588C>A (p.Pro1530Thr)
c.4034-4333C>A (n.4034-4333C>A)
c.3223C>A (p.Pro1075Thr)
c.5137C>A (p.Pro1713Thr)
c.3488-4333C>A (n.3488-4333C>A)
c.4864C>A (p.Pro1622Thr)
c.4318C>A (p.Pro1440Thr)
c.4580-4333C>A (n.4580-4333C>A)
c.4045C>A (p.Pro1349Thr)
c.3761-4333C>A (n.3761-4333C>A)
c.3496C>A (p.Pro1166Thr)
c.5410C>A (p.Pro1804Thr)
c.5134C>A (p.Pro1712Thr)
9g.115046675T>ACA374631472TNCc.318-4334A>T
c.3215-4334A>T (n.3215-4334A>T)
c.3771A>T (p.Glu1257Asp)
c.1803A>T (p.Glu601Asp)
c.459A>T (p.Glu153Asp)
c.3818A>T
c.4860A>T (p.Glu1620Asp)
c.4314A>T (p.Glu1438Asp)
c.4307-4334A>T (n.4307-4334A>T)
n.178A>T
n.253-4334A>T
n.40-4334A>T
c.547A>T
c.18A>T (p.Glu6Asp)
c.4587A>T (p.Glu1529Asp)
c.4034-4334A>T (n.4034-4334A>T)
c.3222A>T (p.Glu1074Asp)
c.5136A>T (p.Glu1712Asp)
c.3488-4334A>T (n.3488-4334A>T)
c.4863A>T (p.Glu1621Asp)
c.4317A>T (p.Glu1439Asp)
c.4580-4334A>T (n.4580-4334A>T)
c.4044A>T (p.Glu1348Asp)
c.3761-4334A>T (n.3761-4334A>T)
c.3495A>T (p.Glu1165Asp)
c.5409A>T (p.Glu1803Asp)
c.5133A>T (p.Glu1711Asp)
9g.115046675T>CCA466912261TNCc.318-4334A>G
c.3215-4334A>G (n.3215-4334A>G)
c.3771A>G (p.Glu1257=)
c.1803A>G (p.Glu601=)
c.459A>G (p.Glu153=)
c.3818A>G
c.4860A>G (p.Glu1620=)
c.4314A>G (p.Glu1438=)
c.4307-4334A>G (n.4307-4334A>G)
n.178A>G
n.253-4334A>G
n.40-4334A>G
c.547A>G
c.18A>G (p.Glu6=)
c.4587A>G (p.Glu1529=)
c.4034-4334A>G (n.4034-4334A>G)
c.3222A>G (p.Glu1074=)
c.5136A>G (p.Glu1712=)
c.3488-4334A>G (n.3488-4334A>G)
c.4863A>G (p.Glu1621=)
c.4317A>G (p.Glu1439=)
c.4580-4334A>G (n.4580-4334A>G)
c.4044A>G (p.Glu1348=)
c.3761-4334A>G (n.3761-4334A>G)
c.3495A>G (p.Glu1165=)
c.5409A>G (p.Glu1803=)
c.5133A>G (p.Glu1711=)
9g.115046675T>GCA374631473TNCc.318-4334A>C
c.3215-4334A>C (n.3215-4334A>C)
c.3771A>C (p.Glu1257Asp)
c.1803A>C (p.Glu601Asp)
c.459A>C (p.Glu153Asp)
c.3818A>C
c.4860A>C (p.Glu1620Asp)
c.4314A>C (p.Glu1438Asp)
c.4307-4334A>C (n.4307-4334A>C)
n.178A>C
n.253-4334A>C
n.40-4334A>C
c.547A>C
c.18A>C (p.Glu6Asp)
c.4587A>C (p.Glu1529Asp)
c.4034-4334A>C (n.4034-4334A>C)
c.3222A>C (p.Glu1074Asp)
c.5136A>C (p.Glu1712Asp)
c.3488-4334A>C (n.3488-4334A>C)
c.4863A>C (p.Glu1621Asp)
c.4317A>C (p.Glu1439Asp)
c.4580-4334A>C (n.4580-4334A>C)
c.4044A>C (p.Glu1348Asp)
c.3761-4334A>C (n.3761-4334A>C)
c.3495A>C (p.Glu1165Asp)
c.5409A>C (p.Glu1803Asp)
c.5133A>C (p.Glu1711Asp)
9g.115046676T>ACA374631475TNCc.318-4335A>T
c.3215-4335A>T (n.3215-4335A>T)
c.3770A>T (p.Glu1257Val)
c.1802A>T (p.Glu601Val)
c.458A>T (p.Glu153Val)
c.3817A>T
c.4859A>T (p.Glu1620Val)
c.4313A>T (p.Glu1438Val)
c.4307-4335A>T (n.4307-4335A>T)
n.177A>T
n.253-4335A>T
n.40-4335A>T
c.546A>T
c.17A>T (p.Glu6Val)
c.4586A>T (p.Glu1529Val)
c.4034-4335A>T (n.4034-4335A>T)
c.3221A>T (p.Glu1074Val)
c.5135A>T (p.Glu1712Val)
c.3488-4335A>T (n.3488-4335A>T)
c.4862A>T (p.Glu1621Val)
c.4316A>T (p.Glu1439Val)
c.4580-4335A>T (n.4580-4335A>T)
c.4043A>T (p.Glu1348Val)
c.3761-4335A>T (n.3761-4335A>T)
c.3494A>T (p.Glu1165Val)
c.5408A>T (p.Glu1803Val)
c.5132A>T (p.Glu1711Val)
9g.115046676T>CCA374631476TNCc.318-4335A>G
c.3215-4335A>G (n.3215-4335A>G)
c.3770A>G (p.Glu1257Gly)
c.1802A>G (p.Glu601Gly)
c.458A>G (p.Glu153Gly)
c.3817A>G
c.4859A>G (p.Glu1620Gly)
c.4313A>G (p.Glu1438Gly)
c.4307-4335A>G (n.4307-4335A>G)
n.177A>G
n.253-4335A>G
n.40-4335A>G
c.546A>G
c.17A>G (p.Glu6Gly)
c.4586A>G (p.Glu1529Gly)
c.4034-4335A>G (n.4034-4335A>G)
c.3221A>G (p.Glu1074Gly)
c.5135A>G (p.Glu1712Gly)
c.3488-4335A>G (n.3488-4335A>G)
c.4862A>G (p.Glu1621Gly)
c.4316A>G (p.Glu1439Gly)
c.4580-4335A>G (n.4580-4335A>G)
c.4043A>G (p.Glu1348Gly)
c.3761-4335A>G (n.3761-4335A>G)
c.3494A>G (p.Glu1165Gly)
c.5408A>G (p.Glu1803Gly)
c.5132A>G (p.Glu1711Gly)
9g.115046676T>GCA374631477TNCc.318-4335A>C
c.3215-4335A>C (n.3215-4335A>C)
c.3770A>C (p.Glu1257Ala)
c.1802A>C (p.Glu601Ala)
c.458A>C (p.Glu153Ala)
c.3817A>C
c.4859A>C (p.Glu1620Ala)
c.4313A>C (p.Glu1438Ala)
c.4307-4335A>C (n.4307-4335A>C)
n.177A>C
n.253-4335A>C
n.40-4335A>C
c.546A>C
c.17A>C (p.Glu6Ala)
c.4586A>C (p.Glu1529Ala)
c.4034-4335A>C (n.4034-4335A>C)
c.3221A>C (p.Glu1074Ala)
c.5135A>C (p.Glu1712Ala)
c.3488-4335A>C (n.3488-4335A>C)
c.4862A>C (p.Glu1621Ala)
c.4316A>C (p.Glu1439Ala)
c.4580-4335A>C (n.4580-4335A>C)
c.4043A>C (p.Glu1348Ala)
c.3761-4335A>C (n.3761-4335A>C)
c.3494A>C (p.Glu1165Ala)
c.5408A>C (p.Glu1803Ala)
c.5132A>C (p.Glu1711Ala)
9g.115046677C>ACA374631479TNCc.318-4336G>T
c.3215-4336G>T (n.3215-4336G>T)
c.3769G>T (p.Glu1257Ter)
c.1801G>T (p.Glu601Ter)
c.457G>T (p.Glu153Ter)
c.3816G>T
c.4858G>T (p.Glu1620Ter)
c.4312G>T (p.Glu1438Ter)
c.4307-4336G>T (n.4307-4336G>T)
n.176G>T
n.253-4336G>T
n.40-4336G>T
c.545G>T
c.16G>T (p.Glu6Ter)
c.4585G>T (p.Glu1529Ter)
c.4034-4336G>T (n.4034-4336G>T)
c.3220G>T (p.Glu1074Ter)
c.5134G>T (p.Glu1712Ter)
c.3488-4336G>T (n.3488-4336G>T)
c.4861G>T (p.Glu1621Ter)
c.4315G>T (p.Glu1439Ter)
c.4580-4336G>T (n.4580-4336G>T)
c.4042G>T (p.Glu1348Ter)
c.3761-4336G>T (n.3761-4336G>T)
c.3493G>T (p.Glu1165Ter)
c.5407G>T (p.Glu1803Ter)
c.5131G>T (p.Glu1711Ter)
9g.115046677C=CA1874118970TNCc.318-4336G=
c.3215-4336G= (n.3215-4336G=)
c.3769G= (p.Glu1257=)
c.1801G= (p.Glu601=)
c.457G= (p.Glu153=)
c.3816G=
c.4858G= (p.Glu1620=)
c.4312G= (p.Glu1438=)
c.4307-4336G= (n.4307-4336G=)
n.176G=
n.253-4336G=
n.40-4336G=
c.545G=
c.16G= (p.Glu6=)
c.4585G= (p.Glu1529=)
c.4034-4336G= (n.4034-4336G=)
c.3220G= (p.Glu1074=)
c.5134G= (p.Glu1712=)
c.3488-4336G= (n.3488-4336G=)
c.4861G= (p.Glu1621=)
c.4315G= (p.Glu1439=)
c.4580-4336G= (n.4580-4336G=)
c.4042G= (p.Glu1348=)
c.3761-4336G= (n.3761-4336G=)
c.3493G= (p.Glu1165=)
c.5407G= (p.Glu1803=)
c.5131G= (p.Glu1711=)
9g.115046677C>GCA374631480TNCc.318-4336G>C
c.3215-4336G>C (n.3215-4336G>C)
c.3769G>C (p.Glu1257Gln)
c.1801G>C (p.Glu601Gln)
c.457G>C (p.Glu153Gln)
c.3816G>C
c.4858G>C (p.Glu1620Gln)
c.4312G>C (p.Glu1438Gln)
c.4307-4336G>C (n.4307-4336G>C)
n.176G>C
n.253-4336G>C
n.40-4336G>C
c.545G>C
c.16G>C (p.Glu6Gln)
c.4585G>C (p.Glu1529Gln)
c.4034-4336G>C (n.4034-4336G>C)
c.3220G>C (p.Glu1074Gln)
c.5134G>C (p.Glu1712Gln)
c.3488-4336G>C (n.3488-4336G>C)
c.4861G>C (p.Glu1621Gln)
c.4315G>C (p.Glu1439Gln)
c.4580-4336G>C (n.4580-4336G>C)
c.4042G>C (p.Glu1348Gln)
c.3761-4336G>C (n.3761-4336G>C)
c.3493G>C (p.Glu1165Gln)
c.5407G>C (p.Glu1803Gln)
c.5131G>C (p.Glu1711Gln)
9g.115046677C>TCA5207802TNCc.318-4336G>A
c.3215-4336G>A (n.3215-4336G>A)
c.3769G>A (p.Glu1257Lys)
c.1801G>A (p.Glu601Lys)
c.457G>A (p.Glu153Lys)
c.3816G>A
c.4858G>A (p.Glu1620Lys)
c.4312G>A (p.Glu1438Lys)
c.4307-4336G>A (n.4307-4336G>A)
n.176G>A
n.253-4336G>A
n.40-4336G>A
c.545G>A
c.16G>A (p.Glu6Lys)
c.4585G>A (p.Glu1529Lys)
c.4034-4336G>A (n.4034-4336G>A)
c.3220G>A (p.Glu1074Lys)
c.5134G>A (p.Glu1712Lys)
c.3488-4336G>A (n.3488-4336G>A)
c.4861G>A (p.Glu1621Lys)
c.4315G>A (p.Glu1439Lys)
c.4580-4336G>A (n.4580-4336G>A)
c.4042G>A (p.Glu1348Lys)
c.3761-4336G>A (n.3761-4336G>A)
c.3493G>A (p.Glu1165Lys)
c.5407G>A (p.Glu1803Lys)
c.5131G>A (p.Glu1711Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched