Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115040946G>ACA374629010TNCc.579C>T
c.3476C>T (p.Thr1159Ile)
c.4298C>T (p.Thr1433Ile)
c.2330C>T (p.Thr777Ile)
c.986C>T (p.Thr329Ile)
c.4345C>T
c.5387C>T (p.Thr1796Ile)
c.4841C>T (p.Thr1614Ile)
c.4568C>T (p.Thr1523Ile)
n.514C>T
n.301C>T
c.1074C>T
c.5114C>T (p.Thr1705Ile)
c.4295C>T (p.Thr1432Ile)
c.3749C>T (p.Thr1250Ile)
c.5663C>T (p.Thr1888Ile)
c.5390C>T (p.Thr1797Ile)
c.4844C>T (p.Thr1615Ile)
c.4571C>T (p.Thr1524Ile)
c.4022C>T (p.Thr1341Ile)
c.5936C>T (p.Thr1979Ile)
c.5660C>T (p.Thr1887Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.115040946G>CCA374629011TNCc.579C>G
c.3476C>G (p.Thr1159Ser)
c.4298C>G (p.Thr1433Ser)
c.2330C>G (p.Thr777Ser)
c.986C>G (p.Thr329Ser)
c.4345C>G
c.5387C>G (p.Thr1796Ser)
c.4841C>G (p.Thr1614Ser)
c.4568C>G (p.Thr1523Ser)
n.514C>G
n.301C>G
c.1074C>G
c.5114C>G (p.Thr1705Ser)
c.4295C>G (p.Thr1432Ser)
c.3749C>G (p.Thr1250Ser)
c.5663C>G (p.Thr1888Ser)
c.5390C>G (p.Thr1797Ser)
c.4844C>G (p.Thr1615Ser)
c.4571C>G (p.Thr1524Ser)
c.4022C>G (p.Thr1341Ser)
c.5936C>G (p.Thr1979Ser)
c.5660C>G (p.Thr1887Ser)
9g.115040946G=CA1874116314TNCc.579C=
c.3476C= (p.Thr1159=)
c.4298C= (p.Thr1433=)
c.2330C= (p.Thr777=)
c.986C= (p.Thr329=)
c.4345C=
c.5387C= (p.Thr1796=)
c.4841C= (p.Thr1614=)
c.4568C= (p.Thr1523=)
n.514C=
n.301C=
c.1074C=
c.5114C= (p.Thr1705=)
c.4295C= (p.Thr1432=)
c.3749C= (p.Thr1250=)
c.5663C= (p.Thr1888=)
c.5390C= (p.Thr1797=)
c.4844C= (p.Thr1615=)
c.4571C= (p.Thr1524=)
c.4022C= (p.Thr1341=)
c.5936C= (p.Thr1979=)
c.5660C= (p.Thr1887=)
9g.115040946G>TCA374629012TNCc.579C>A
c.3476C>A (p.Thr1159Asn)
c.4298C>A (p.Thr1433Asn)
c.2330C>A (p.Thr777Asn)
c.986C>A (p.Thr329Asn)
c.4345C>A
c.5387C>A (p.Thr1796Asn)
c.4841C>A (p.Thr1614Asn)
c.4568C>A (p.Thr1523Asn)
n.514C>A
n.301C>A
c.1074C>A
c.5114C>A (p.Thr1705Asn)
c.4295C>A (p.Thr1432Asn)
c.3749C>A (p.Thr1250Asn)
c.5663C>A (p.Thr1888Asn)
c.5390C>A (p.Thr1797Asn)
c.4844C>A (p.Thr1615Asn)
c.4571C>A (p.Thr1524Asn)
c.4022C>A (p.Thr1341Asn)
c.5936C>A (p.Thr1979Asn)
c.5660C>A (p.Thr1887Asn)
9g.115040947T>ACA149712TNCc.578A>T
c.3475A>T (p.Thr1159Ser)
c.4297A>T (p.Thr1433Ser)
c.2329A>T (p.Thr777Ser)
c.985A>T (p.Thr329Ser)
c.4344A>T
c.5386A>T (p.Thr1796Ser)
c.4840A>T (p.Thr1614Ser)
c.4567A>T (p.Thr1523Ser)
n.513A>T
n.300A>T
c.1073A>T
c.5113A>T (p.Thr1705Ser)
c.4294A>T (p.Thr1432Ser)
c.3748A>T (p.Thr1250Ser)
c.5662A>T (p.Thr1888Ser)
c.5389A>T (p.Thr1797Ser)
c.4843A>T (p.Thr1615Ser)
c.4570A>T (p.Thr1524Ser)
c.4021A>T (p.Thr1341Ser)
c.5935A>T (p.Thr1979Ser)
c.5659A>T (p.Thr1887Ser)
 ClinVar dbSNP
9g.115040947T>CCA374629018TNCc.578A>G
c.3475A>G (p.Thr1159Ala)
c.4297A>G (p.Thr1433Ala)
c.2329A>G (p.Thr777Ala)
c.985A>G (p.Thr329Ala)
c.4344A>G
c.5386A>G (p.Thr1796Ala)
c.4840A>G (p.Thr1614Ala)
c.4567A>G (p.Thr1523Ala)
n.513A>G
n.300A>G
c.1073A>G
c.5113A>G (p.Thr1705Ala)
c.4294A>G (p.Thr1432Ala)
c.3748A>G (p.Thr1250Ala)
c.5662A>G (p.Thr1888Ala)
c.5389A>G (p.Thr1797Ala)
c.4843A>G (p.Thr1615Ala)
c.4570A>G (p.Thr1524Ala)
c.4021A>G (p.Thr1341Ala)
c.5935A>G (p.Thr1979Ala)
c.5659A>G (p.Thr1887Ala)
9g.115040947T>GCA374629016TNCc.578A>C
c.3475A>C (p.Thr1159Pro)
c.4297A>C (p.Thr1433Pro)
c.2329A>C (p.Thr777Pro)
c.985A>C (p.Thr329Pro)
c.4344A>C
c.5386A>C (p.Thr1796Pro)
c.4840A>C (p.Thr1614Pro)
c.4567A>C (p.Thr1523Pro)
n.513A>C
n.300A>C
c.1073A>C
c.5113A>C (p.Thr1705Pro)
c.4294A>C (p.Thr1432Pro)
c.3748A>C (p.Thr1250Pro)
c.5662A>C (p.Thr1888Pro)
c.5389A>C (p.Thr1797Pro)
c.4843A>C (p.Thr1615Pro)
c.4570A>C (p.Thr1524Pro)
c.4021A>C (p.Thr1341Pro)
c.5935A>C (p.Thr1979Pro)
c.5659A>C (p.Thr1887Pro)
9g.115040947T=CA1874116315TNCc.578A=
c.3475A= (p.Thr1159=)
c.4297A= (p.Thr1433=)
c.2329A= (p.Thr777=)
c.985A= (p.Thr329=)
c.4344A=
c.5386A= (p.Thr1796=)
c.4840A= (p.Thr1614=)
c.4567A= (p.Thr1523=)
n.513A=
n.300A=
c.1073A=
c.5113A= (p.Thr1705=)
c.4294A= (p.Thr1432=)
c.3748A= (p.Thr1250=)
c.5662A= (p.Thr1888=)
c.5389A= (p.Thr1797=)
c.4843A= (p.Thr1615=)
c.4570A= (p.Thr1524=)
c.4021A= (p.Thr1341=)
c.5935A= (p.Thr1979=)
c.5659A= (p.Thr1887=)
9g.115040948G>ACA466790949TNCc.577C>T
c.3474C>T (p.Phe1158=)
c.4296C>T (p.Phe1432=)
c.2328C>T (p.Phe776=)
c.984C>T (p.Phe328=)
c.4343C>T
c.5385C>T (p.Phe1795=)
c.4839C>T (p.Phe1613=)
c.4566C>T (p.Phe1522=)
n.512C>T
n.299C>T
c.1072C>T
c.5112C>T (p.Phe1704=)
c.4293C>T (p.Phe1431=)
c.3747C>T (p.Phe1249=)
c.5661C>T (p.Phe1887=)
c.5388C>T (p.Phe1796=)
c.4842C>T (p.Phe1614=)
c.4569C>T (p.Phe1523=)
c.4020C>T (p.Phe1340=)
c.5934C>T (p.Phe1978=)
c.5658C>T (p.Phe1886=)
 dbSNP gnomAD v2 gnomAD v4
9g.115040948G>CCA374629020TNCc.577C>G
c.3474C>G (p.Phe1158Leu)
c.4296C>G (p.Phe1432Leu)
c.2328C>G (p.Phe776Leu)
c.984C>G (p.Phe328Leu)
c.4343C>G
c.5385C>G (p.Phe1795Leu)
c.4839C>G (p.Phe1613Leu)
c.4566C>G (p.Phe1522Leu)
n.512C>G
n.299C>G
c.1072C>G
c.5112C>G (p.Phe1704Leu)
c.4293C>G (p.Phe1431Leu)
c.3747C>G (p.Phe1249Leu)
c.5661C>G (p.Phe1887Leu)
c.5388C>G (p.Phe1796Leu)
c.4842C>G (p.Phe1614Leu)
c.4569C>G (p.Phe1523Leu)
c.4020C>G (p.Phe1340Leu)
c.5934C>G (p.Phe1978Leu)
c.5658C>G (p.Phe1886Leu)
9g.115040948G=CA1874116316TNCc.577C=
c.3474C= (p.Phe1158=)
c.4296C= (p.Phe1432=)
c.2328C= (p.Phe776=)
c.984C= (p.Phe328=)
c.4343C=
c.5385C= (p.Phe1795=)
c.4839C= (p.Phe1613=)
c.4566C= (p.Phe1522=)
n.512C=
n.299C=
c.1072C=
c.5112C= (p.Phe1704=)
c.4293C= (p.Phe1431=)
c.3747C= (p.Phe1249=)
c.5661C= (p.Phe1887=)
c.5388C= (p.Phe1796=)
c.4842C= (p.Phe1614=)
c.4569C= (p.Phe1523=)
c.4020C= (p.Phe1340=)
c.5934C= (p.Phe1978=)
c.5658C= (p.Phe1886=)
9g.115040948G>TCA374629022TNCc.577C>A
c.3474C>A (p.Phe1158Leu)
c.4296C>A (p.Phe1432Leu)
c.2328C>A (p.Phe776Leu)
c.984C>A (p.Phe328Leu)
c.4343C>A
c.5385C>A (p.Phe1795Leu)
c.4839C>A (p.Phe1613Leu)
c.4566C>A (p.Phe1522Leu)
n.512C>A
n.299C>A
c.1072C>A
c.5112C>A (p.Phe1704Leu)
c.4293C>A (p.Phe1431Leu)
c.3747C>A (p.Phe1249Leu)
c.5661C>A (p.Phe1887Leu)
c.5388C>A (p.Phe1796Leu)
c.4842C>A (p.Phe1614Leu)
c.4569C>A (p.Phe1523Leu)
c.4020C>A (p.Phe1340Leu)
c.5934C>A (p.Phe1978Leu)
c.5658C>A (p.Phe1886Leu)
9g.115040949A>CCA374629024TNCc.576T>G
c.3473T>G (p.Phe1158Cys)
c.4295T>G (p.Phe1432Cys)
c.2327T>G (p.Phe776Cys)
c.983T>G (p.Phe328Cys)
c.4342T>G
c.5384T>G (p.Phe1795Cys)
c.4838T>G (p.Phe1613Cys)
c.4565T>G (p.Phe1522Cys)
n.511T>G
n.298T>G
c.1071T>G
c.5111T>G (p.Phe1704Cys)
c.4292T>G (p.Phe1431Cys)
c.3746T>G (p.Phe1249Cys)
c.5660T>G (p.Phe1887Cys)
c.5387T>G (p.Phe1796Cys)
c.4841T>G (p.Phe1614Cys)
c.4568T>G (p.Phe1523Cys)
c.4019T>G (p.Phe1340Cys)
c.5933T>G (p.Phe1978Cys)
c.5657T>G (p.Phe1886Cys)
9g.115040949A>GCA374629026TNCc.576T>C
c.3473T>C (p.Phe1158Ser)
c.4295T>C (p.Phe1432Ser)
c.2327T>C (p.Phe776Ser)
c.983T>C (p.Phe328Ser)
c.4342T>C
c.5384T>C (p.Phe1795Ser)
c.4838T>C (p.Phe1613Ser)
c.4565T>C (p.Phe1522Ser)
n.511T>C
n.298T>C
c.1071T>C
c.5111T>C (p.Phe1704Ser)
c.4292T>C (p.Phe1431Ser)
c.3746T>C (p.Phe1249Ser)
c.5660T>C (p.Phe1887Ser)
c.5387T>C (p.Phe1796Ser)
c.4841T>C (p.Phe1614Ser)
c.4568T>C (p.Phe1523Ser)
c.4019T>C (p.Phe1340Ser)
c.5933T>C (p.Phe1978Ser)
c.5657T>C (p.Phe1886Ser)
9g.115040949A>TCA374629028TNCc.576T>A
c.3473T>A (p.Phe1158Tyr)
c.4295T>A (p.Phe1432Tyr)
c.2327T>A (p.Phe776Tyr)
c.983T>A (p.Phe328Tyr)
c.4342T>A
c.5384T>A (p.Phe1795Tyr)
c.4838T>A (p.Phe1613Tyr)
c.4565T>A (p.Phe1522Tyr)
n.511T>A
n.298T>A
c.1071T>A
c.5111T>A (p.Phe1704Tyr)
c.4292T>A (p.Phe1431Tyr)
c.3746T>A (p.Phe1249Tyr)
c.5660T>A (p.Phe1887Tyr)
c.5387T>A (p.Phe1796Tyr)
c.4841T>A (p.Phe1614Tyr)
c.4568T>A (p.Phe1523Tyr)
c.4019T>A (p.Phe1340Tyr)
c.5933T>A (p.Phe1978Tyr)
c.5657T>A (p.Phe1886Tyr)
9g.115040950A>CCA374629030TNCc.575T>G
c.3472T>G (p.Phe1158Val)
c.4294T>G (p.Phe1432Val)
c.2326T>G (p.Phe776Val)
c.982T>G (p.Phe328Val)
c.4341T>G
c.5383T>G (p.Phe1795Val)
c.4837T>G (p.Phe1613Val)
c.4564T>G (p.Phe1522Val)
n.510T>G
n.297T>G
c.1070T>G
c.5110T>G (p.Phe1704Val)
c.4291T>G (p.Phe1431Val)
c.3745T>G (p.Phe1249Val)
c.5659T>G (p.Phe1887Val)
c.5386T>G (p.Phe1796Val)
c.4840T>G (p.Phe1614Val)
c.4567T>G (p.Phe1523Val)
c.4018T>G (p.Phe1340Val)
c.5932T>G (p.Phe1978Val)
c.5656T>G (p.Phe1886Val)
9g.115040950A>GCA374629032TNCc.575T>C
c.3472T>C (p.Phe1158Leu)
c.4294T>C (p.Phe1432Leu)
c.2326T>C (p.Phe776Leu)
c.982T>C (p.Phe328Leu)
c.4341T>C
c.5383T>C (p.Phe1795Leu)
c.4837T>C (p.Phe1613Leu)
c.4564T>C (p.Phe1522Leu)
n.510T>C
n.297T>C
c.1070T>C
c.5110T>C (p.Phe1704Leu)
c.4291T>C (p.Phe1431Leu)
c.3745T>C (p.Phe1249Leu)
c.5659T>C (p.Phe1887Leu)
c.5386T>C (p.Phe1796Leu)
c.4840T>C (p.Phe1614Leu)
c.4567T>C (p.Phe1523Leu)
c.4018T>C (p.Phe1340Leu)
c.5932T>C (p.Phe1978Leu)
c.5656T>C (p.Phe1886Leu)
9g.115040950A>TCA374629034TNCc.575T>A
c.3472T>A (p.Phe1158Ile)
c.4294T>A (p.Phe1432Ile)
c.2326T>A (p.Phe776Ile)
c.982T>A (p.Phe328Ile)
c.4341T>A
c.5383T>A (p.Phe1795Ile)
c.4837T>A (p.Phe1613Ile)
c.4564T>A (p.Phe1522Ile)
n.510T>A
n.297T>A
c.1070T>A
c.5110T>A (p.Phe1704Ile)
c.4291T>A (p.Phe1431Ile)
c.3745T>A (p.Phe1249Ile)
c.5659T>A (p.Phe1887Ile)
c.5386T>A (p.Phe1796Ile)
c.4840T>A (p.Phe1614Ile)
c.4567T>A (p.Phe1523Ile)
c.4018T>A (p.Phe1340Ile)
c.5932T>A (p.Phe1978Ile)
c.5656T>A (p.Phe1886Ile)
9g.115040951T>ACA466790950TNCc.574A>T
c.3471A>T (p.Ser1157=)
c.4293A>T (p.Ser1431=)
c.2325A>T (p.Ser775=)
c.981A>T (p.Ser327=)
c.4340A>T
c.5382A>T (p.Ser1794=)
c.4836A>T (p.Ser1612=)
c.4563A>T (p.Ser1521=)
n.509A>T
n.296A>T
c.1069A>T
c.5109A>T (p.Ser1703=)
c.4290A>T (p.Ser1430=)
c.3744A>T (p.Ser1248=)
c.5658A>T (p.Ser1886=)
c.5385A>T (p.Ser1795=)
c.4839A>T (p.Ser1613=)
c.4566A>T (p.Ser1522=)
c.4017A>T (p.Ser1339=)
c.5931A>T (p.Ser1977=)
c.5655A>T (p.Ser1885=)
9g.115040951T>CCA466790951TNCc.574A>G
c.3471A>G (p.Ser1157=)
c.4293A>G (p.Ser1431=)
c.2325A>G (p.Ser775=)
c.981A>G (p.Ser327=)
c.4340A>G
c.5382A>G (p.Ser1794=)
c.4836A>G (p.Ser1612=)
c.4563A>G (p.Ser1521=)
n.509A>G
n.296A>G
c.1069A>G
c.5109A>G (p.Ser1703=)
c.4290A>G (p.Ser1430=)
c.3744A>G (p.Ser1248=)
c.5658A>G (p.Ser1886=)
c.5385A>G (p.Ser1795=)
c.4839A>G (p.Ser1613=)
c.4566A>G (p.Ser1522=)
c.4017A>G (p.Ser1339=)
c.5931A>G (p.Ser1977=)
c.5655A>G (p.Ser1885=)
 gnomAD v4
9g.115040951T>GCA466790952TNCc.574A>C
c.3471A>C (p.Ser1157=)
c.4293A>C (p.Ser1431=)
c.2325A>C (p.Ser775=)
c.981A>C (p.Ser327=)
c.4340A>C
c.5382A>C (p.Ser1794=)
c.4836A>C (p.Ser1612=)
c.4563A>C (p.Ser1521=)
n.509A>C
n.296A>C
c.1069A>C
c.5109A>C (p.Ser1703=)
c.4290A>C (p.Ser1430=)
c.3744A>C (p.Ser1248=)
c.5658A>C (p.Ser1886=)
c.5385A>C (p.Ser1795=)
c.4839A>C (p.Ser1613=)
c.4566A>C (p.Ser1522=)
c.4017A>C (p.Ser1339=)
c.5931A>C (p.Ser1977=)
c.5655A>C (p.Ser1885=)
 dbSNP gnomAD v4
9g.115040951T=CA1874116317TNCc.574A=
c.3471A= (p.Ser1157=)
c.4293A= (p.Ser1431=)
c.2325A= (p.Ser775=)
c.981A= (p.Ser327=)
c.4340A=
c.5382A= (p.Ser1794=)
c.4836A= (p.Ser1612=)
c.4563A= (p.Ser1521=)
n.509A=
n.296A=
c.1069A=
c.5109A= (p.Ser1703=)
c.4290A= (p.Ser1430=)
c.3744A= (p.Ser1248=)
c.5658A= (p.Ser1886=)
c.5385A= (p.Ser1795=)
c.4839A= (p.Ser1613=)
c.4566A= (p.Ser1522=)
c.4017A= (p.Ser1339=)
c.5931A= (p.Ser1977=)
c.5655A= (p.Ser1885=)
9g.115040952G>ACA374629036TNCc.573C>T
c.3470C>T (p.Ser1157Leu)
c.4292C>T (p.Ser1431Leu)
c.2324C>T (p.Ser775Leu)
c.980C>T (p.Ser327Leu)
c.4339C>T
c.5381C>T (p.Ser1794Leu)
c.4835C>T (p.Ser1612Leu)
c.4562C>T (p.Ser1521Leu)
n.508C>T
n.295C>T
c.1068C>T
c.5108C>T (p.Ser1703Leu)
c.4289C>T (p.Ser1430Leu)
c.3743C>T (p.Ser1248Leu)
c.5657C>T (p.Ser1886Leu)
c.5384C>T (p.Ser1795Leu)
c.4838C>T (p.Ser1613Leu)
c.4565C>T (p.Ser1522Leu)
c.4016C>T (p.Ser1339Leu)
c.5930C>T (p.Ser1977Leu)
c.5654C>T (p.Ser1885Leu)
 gnomAD v4
9g.115040952G>CCA374629038TNCc.573C>G
c.3470C>G (p.Ser1157Ter)
c.4292C>G (p.Ser1431Ter)
c.2324C>G (p.Ser775Ter)
c.980C>G (p.Ser327Ter)
c.4339C>G
c.5381C>G (p.Ser1794Ter)
c.4835C>G (p.Ser1612Ter)
c.4562C>G (p.Ser1521Ter)
n.508C>G
n.295C>G
c.1068C>G
c.5108C>G (p.Ser1703Ter)
c.4289C>G (p.Ser1430Ter)
c.3743C>G (p.Ser1248Ter)
c.5657C>G (p.Ser1886Ter)
c.5384C>G (p.Ser1795Ter)
c.4838C>G (p.Ser1613Ter)
c.4565C>G (p.Ser1522Ter)
c.4016C>G (p.Ser1339Ter)
c.5930C>G (p.Ser1977Ter)
c.5654C>G (p.Ser1885Ter)
9g.115040952G>TCA374629040TNCc.573C>A
c.3470C>A (p.Ser1157Ter)
c.4292C>A (p.Ser1431Ter)
c.2324C>A (p.Ser775Ter)
c.980C>A (p.Ser327Ter)
c.4339C>A
c.5381C>A (p.Ser1794Ter)
c.4835C>A (p.Ser1612Ter)
c.4562C>A (p.Ser1521Ter)
n.508C>A
n.295C>A
c.1068C>A
c.5108C>A (p.Ser1703Ter)
c.4289C>A (p.Ser1430Ter)
c.3743C>A (p.Ser1248Ter)
c.5657C>A (p.Ser1886Ter)
c.5384C>A (p.Ser1795Ter)
c.4838C>A (p.Ser1613Ter)
c.4565C>A (p.Ser1522Ter)
c.4016C>A (p.Ser1339Ter)
c.5930C>A (p.Ser1977Ter)
c.5654C>A (p.Ser1885Ter)
 gnomAD v4
9g.115040953A>CCA374629042TNCc.572T>G
c.3469T>G (p.Ser1157Ala)
c.4291T>G (p.Ser1431Ala)
c.2323T>G (p.Ser775Ala)
c.979T>G (p.Ser327Ala)
c.4338T>G
c.5380T>G (p.Ser1794Ala)
c.4834T>G (p.Ser1612Ala)
c.4561T>G (p.Ser1521Ala)
n.507T>G
n.294T>G
c.1067T>G
c.5107T>G (p.Ser1703Ala)
c.4288T>G (p.Ser1430Ala)
c.3742T>G (p.Ser1248Ala)
c.5656T>G (p.Ser1886Ala)
c.5383T>G (p.Ser1795Ala)
c.4837T>G (p.Ser1613Ala)
c.4564T>G (p.Ser1522Ala)
c.4015T>G (p.Ser1339Ala)
c.5929T>G (p.Ser1977Ala)
c.5653T>G (p.Ser1885Ala)
9g.115040953A>GCA374629046TNCc.572T>C
c.3469T>C (p.Ser1157Pro)
c.4291T>C (p.Ser1431Pro)
c.2323T>C (p.Ser775Pro)
c.979T>C (p.Ser327Pro)
c.4338T>C
c.5380T>C (p.Ser1794Pro)
c.4834T>C (p.Ser1612Pro)
c.4561T>C (p.Ser1521Pro)
n.507T>C
n.294T>C
c.1067T>C
c.5107T>C (p.Ser1703Pro)
c.4288T>C (p.Ser1430Pro)
c.3742T>C (p.Ser1248Pro)
c.5656T>C (p.Ser1886Pro)
c.5383T>C (p.Ser1795Pro)
c.4837T>C (p.Ser1613Pro)
c.4564T>C (p.Ser1522Pro)
c.4015T>C (p.Ser1339Pro)
c.5929T>C (p.Ser1977Pro)
c.5653T>C (p.Ser1885Pro)
9g.115040953A>TCA374629044TNCc.572T>A
c.3469T>A (p.Ser1157Thr)
c.4291T>A (p.Ser1431Thr)
c.2323T>A (p.Ser775Thr)
c.979T>A (p.Ser327Thr)
c.4338T>A
c.5380T>A (p.Ser1794Thr)
c.4834T>A (p.Ser1612Thr)
c.4561T>A (p.Ser1521Thr)
n.507T>A
n.294T>A
c.1067T>A
c.5107T>A (p.Ser1703Thr)
c.4288T>A (p.Ser1430Thr)
c.3742T>A (p.Ser1248Thr)
c.5656T>A (p.Ser1886Thr)
c.5383T>A (p.Ser1795Thr)
c.4837T>A (p.Ser1613Thr)
c.4564T>A (p.Ser1522Thr)
c.4015T>A (p.Ser1339Thr)
c.5929T>A (p.Ser1977Thr)
c.5653T>A (p.Ser1885Thr)
9g.115040954C>ACA466790953TNCc.571G>T
c.3468G>T (p.Gly1156=)
c.4290G>T (p.Gly1430=)
c.2322G>T (p.Gly774=)
c.978G>T (p.Gly326=)
c.4337G>T
c.5379G>T (p.Gly1793=)
c.4833G>T (p.Gly1611=)
c.4560G>T (p.Gly1520=)
n.506G>T
n.293G>T
c.1066G>T
c.5106G>T (p.Gly1702=)
c.4287G>T (p.Gly1429=)
c.3741G>T (p.Gly1247=)
c.5655G>T (p.Gly1885=)
c.5382G>T (p.Gly1794=)
c.4836G>T (p.Gly1612=)
c.4563G>T (p.Gly1521=)
c.4014G>T (p.Gly1338=)
c.5928G>T (p.Gly1976=)
c.5652G>T (p.Gly1884=)
9g.115040954C>GCA466790954TNCc.571G>C
c.3468G>C (p.Gly1156=)
c.4290G>C (p.Gly1430=)
c.2322G>C (p.Gly774=)
c.978G>C (p.Gly326=)
c.4337G>C
c.5379G>C (p.Gly1793=)
c.4833G>C (p.Gly1611=)
c.4560G>C (p.Gly1520=)
n.506G>C
n.293G>C
c.1066G>C
c.5106G>C (p.Gly1702=)
c.4287G>C (p.Gly1429=)
c.3741G>C (p.Gly1247=)
c.5655G>C (p.Gly1885=)
c.5382G>C (p.Gly1794=)
c.4836G>C (p.Gly1612=)
c.4563G>C (p.Gly1521=)
c.4014G>C (p.Gly1338=)
c.5928G>C (p.Gly1976=)
c.5652G>C (p.Gly1884=)
9g.115040954C>TCA466790955TNCc.571G>A
c.3468G>A (p.Gly1156=)
c.4290G>A (p.Gly1430=)
c.2322G>A (p.Gly774=)
c.978G>A (p.Gly326=)
c.4337G>A
c.5379G>A (p.Gly1793=)
c.4833G>A (p.Gly1611=)
c.4560G>A (p.Gly1520=)
n.506G>A
n.293G>A
c.1066G>A
c.5106G>A (p.Gly1702=)
c.4287G>A (p.Gly1429=)
c.3741G>A (p.Gly1247=)
c.5655G>A (p.Gly1885=)
c.5382G>A (p.Gly1794=)
c.4836G>A (p.Gly1612=)
c.4563G>A (p.Gly1521=)
c.4014G>A (p.Gly1338=)
c.5928G>A (p.Gly1976=)
c.5652G>A (p.Gly1884=)
 gnomAD v4
9g.115040954_115040955insTCAGCAGCA2519149621TNCc.570_571insCTGCTGA
c.3467_3468insCTGCTGA (p.Ser1157CysfsTer2)
c.4289_4290insCTGCTGA (p.Ser1431CysfsTer2)
c.2321_2322insCTGCTGA (p.Ser775CysfsTer2)
c.977_978insCTGCTGA (p.Ser327CysfsTer2)
c.4336_4337insCTGCTGA
c.5378_5379insCTGCTGA (p.Ser1794CysfsTer2)
c.4832_4833insCTGCTGA (p.Ser1612CysfsTer2)
c.4559_4560insCTGCTGA (p.Ser1521CysfsTer2)
n.505_506insCTGCTGA
n.292_293insCTGCTGA
c.1065_1066insCTGCTGA
c.5105_5106insCTGCTGA (p.Ser1703CysfsTer2)
c.4286_4287insCTGCTGA (p.Ser1430CysfsTer2)
c.3740_3741insCTGCTGA (p.Ser1248CysfsTer2)
c.5654_5655insCTGCTGA (p.Ser1886CysfsTer2)
c.5381_5382insCTGCTGA (p.Ser1795CysfsTer2)
c.4835_4836insCTGCTGA (p.Ser1613CysfsTer2)
c.4562_4563insCTGCTGA (p.Ser1522CysfsTer2)
c.4013_4014insCTGCTGA (p.Ser1339CysfsTer2)
c.5927_5928insCTGCTGA (p.Ser1977CysfsTer2)
c.5651_5652insCTGCTGA (p.Ser1885CysfsTer2)
9g.115040955C>ACA374629049TNCc.570G>T
c.3467G>T (p.Gly1156Val)
c.4289G>T (p.Gly1430Val)
c.2321G>T (p.Gly774Val)
c.977G>T (p.Gly326Val)
c.4336G>T
c.5378G>T (p.Gly1793Val)
c.4832G>T (p.Gly1611Val)
c.4559G>T (p.Gly1520Val)
n.505G>T
n.292G>T
c.1065G>T
c.5105G>T (p.Gly1702Val)
c.4286G>T (p.Gly1429Val)
c.3740G>T (p.Gly1247Val)
c.5654G>T (p.Gly1885Val)
c.5381G>T (p.Gly1794Val)
c.4835G>T (p.Gly1612Val)
c.4562G>T (p.Gly1521Val)
c.4013G>T (p.Gly1338Val)
c.5927G>T (p.Gly1976Val)
c.5651G>T (p.Gly1884Val)
9g.115040955C>GCA374629051TNCc.570G>C
c.3467G>C (p.Gly1156Ala)
c.4289G>C (p.Gly1430Ala)
c.2321G>C (p.Gly774Ala)
c.977G>C (p.Gly326Ala)
c.4336G>C
c.5378G>C (p.Gly1793Ala)
c.4832G>C (p.Gly1611Ala)
c.4559G>C (p.Gly1520Ala)
n.505G>C
n.292G>C
c.1065G>C
c.5105G>C (p.Gly1702Ala)
c.4286G>C (p.Gly1429Ala)
c.3740G>C (p.Gly1247Ala)
c.5654G>C (p.Gly1885Ala)
c.5381G>C (p.Gly1794Ala)
c.4835G>C (p.Gly1612Ala)
c.4562G>C (p.Gly1521Ala)
c.4013G>C (p.Gly1338Ala)
c.5927G>C (p.Gly1976Ala)
c.5651G>C (p.Gly1884Ala)
 gnomAD v4
9g.115040955C>TCA374629053TNCc.570G>A
c.3467G>A (p.Gly1156Glu)
c.4289G>A (p.Gly1430Glu)
c.2321G>A (p.Gly774Glu)
c.977G>A (p.Gly326Glu)
c.4336G>A
c.5378G>A (p.Gly1793Glu)
c.4832G>A (p.Gly1611Glu)
c.4559G>A (p.Gly1520Glu)
n.505G>A
n.292G>A
c.1065G>A
c.5105G>A (p.Gly1702Glu)
c.4286G>A (p.Gly1429Glu)
c.3740G>A (p.Gly1247Glu)
c.5654G>A (p.Gly1885Glu)
c.5381G>A (p.Gly1794Glu)
c.4835G>A (p.Gly1612Glu)
c.4562G>A (p.Gly1521Glu)
c.4013G>A (p.Gly1338Glu)
c.5927G>A (p.Gly1976Glu)
c.5651G>A (p.Gly1884Glu)
 gnomAD v4
9g.115040956C>ACA374629056TNCc.569G>T
c.3466G>T (p.Gly1156Trp)
c.4288G>T (p.Gly1430Trp)
c.2320G>T (p.Gly774Trp)
c.976G>T (p.Gly326Trp)
c.4335G>T
c.5377G>T (p.Gly1793Trp)
c.4831G>T (p.Gly1611Trp)
c.4558G>T (p.Gly1520Trp)
n.504G>T
n.291G>T
c.1064G>T
c.5104G>T (p.Gly1702Trp)
c.4285G>T (p.Gly1429Trp)
c.3739G>T (p.Gly1247Trp)
c.5653G>T (p.Gly1885Trp)
c.5380G>T (p.Gly1794Trp)
c.4834G>T (p.Gly1612Trp)
c.4561G>T (p.Gly1521Trp)
c.4012G>T (p.Gly1338Trp)
c.5926G>T (p.Gly1976Trp)
c.5650G>T (p.Gly1884Trp)
9g.115040956C>GCA374629057TNCc.569G>C
c.3466G>C (p.Gly1156Arg)
c.4288G>C (p.Gly1430Arg)
c.2320G>C (p.Gly774Arg)
c.976G>C (p.Gly326Arg)
c.4335G>C
c.5377G>C (p.Gly1793Arg)
c.4831G>C (p.Gly1611Arg)
c.4558G>C (p.Gly1520Arg)
n.504G>C
n.291G>C
c.1064G>C
c.5104G>C (p.Gly1702Arg)
c.4285G>C (p.Gly1429Arg)
c.3739G>C (p.Gly1247Arg)
c.5653G>C (p.Gly1885Arg)
c.5380G>C (p.Gly1794Arg)
c.4834G>C (p.Gly1612Arg)
c.4561G>C (p.Gly1521Arg)
c.4012G>C (p.Gly1338Arg)
c.5926G>C (p.Gly1976Arg)
c.5650G>C (p.Gly1884Arg)
9g.115040956C>TCA374629058TNCc.569G>A
c.3466G>A (p.Gly1156Arg)
c.4288G>A (p.Gly1430Arg)
c.2320G>A (p.Gly774Arg)
c.976G>A (p.Gly326Arg)
c.4335G>A
c.5377G>A (p.Gly1793Arg)
c.4831G>A (p.Gly1611Arg)
c.4558G>A (p.Gly1520Arg)
n.504G>A
n.291G>A
c.1064G>A
c.5104G>A (p.Gly1702Arg)
c.4285G>A (p.Gly1429Arg)
c.3739G>A (p.Gly1247Arg)
c.5653G>A (p.Gly1885Arg)
c.5380G>A (p.Gly1794Arg)
c.4834G>A (p.Gly1612Arg)
c.4561G>A (p.Gly1521Arg)
c.4012G>A (p.Gly1338Arg)
c.5926G>A (p.Gly1976Arg)
c.5650G>A (p.Gly1884Arg)
9g.115040957T>ACA466790958TNCc.568A>T
c.3465A>T (p.Ser1155=)
c.4287A>T (p.Ser1429=)
c.2319A>T (p.Ser773=)
c.975A>T (p.Ser325=)
c.4334A>T
c.5376A>T (p.Ser1792=)
c.4830A>T (p.Ser1610=)
c.4557A>T (p.Ser1519=)
n.503A>T
n.290A>T
c.1063A>T
c.5103A>T (p.Ser1701=)
c.4284A>T (p.Ser1428=)
c.3738A>T (p.Ser1246=)
c.5652A>T (p.Ser1884=)
c.5379A>T (p.Ser1793=)
c.4833A>T (p.Ser1611=)
c.4560A>T (p.Ser1520=)
c.4011A>T (p.Ser1337=)
c.5925A>T (p.Ser1975=)
c.5649A>T (p.Ser1883=)
9g.115040957T>CCA466790959TNCc.568A>G
c.3465A>G (p.Ser1155=)
c.4287A>G (p.Ser1429=)
c.2319A>G (p.Ser773=)
c.975A>G (p.Ser325=)
c.4334A>G
c.5376A>G (p.Ser1792=)
c.4830A>G (p.Ser1610=)
c.4557A>G (p.Ser1519=)
n.503A>G
n.290A>G
c.1063A>G
c.5103A>G (p.Ser1701=)
c.4284A>G (p.Ser1428=)
c.3738A>G (p.Ser1246=)
c.5652A>G (p.Ser1884=)
c.5379A>G (p.Ser1793=)
c.4833A>G (p.Ser1611=)
c.4560A>G (p.Ser1520=)
c.4011A>G (p.Ser1337=)
c.5925A>G (p.Ser1975=)
c.5649A>G (p.Ser1883=)
9g.115040957T>GCA466790961TNCc.568A>C
c.3465A>C (p.Ser1155=)
c.4287A>C (p.Ser1429=)
c.2319A>C (p.Ser773=)
c.975A>C (p.Ser325=)
c.4334A>C
c.5376A>C (p.Ser1792=)
c.4830A>C (p.Ser1610=)
c.4557A>C (p.Ser1519=)
n.503A>C
n.290A>C
c.1063A>C
c.5103A>C (p.Ser1701=)
c.4284A>C (p.Ser1428=)
c.3738A>C (p.Ser1246=)
c.5652A>C (p.Ser1884=)
c.5379A>C (p.Ser1793=)
c.4833A>C (p.Ser1611=)
c.4560A>C (p.Ser1520=)
c.4011A>C (p.Ser1337=)
c.5925A>C (p.Ser1975=)
c.5649A>C (p.Ser1883=)
9g.115040958G>ACA374629060TNCc.567C>T
c.3464C>T (p.Ser1155Leu)
c.4286C>T (p.Ser1429Leu)
c.2318C>T (p.Ser773Leu)
c.974C>T (p.Ser325Leu)
c.4333C>T
c.5375C>T (p.Ser1792Leu)
c.4829C>T (p.Ser1610Leu)
c.4556C>T (p.Ser1519Leu)
n.502C>T
n.289C>T
c.1062C>T
c.5102C>T (p.Ser1701Leu)
c.4283C>T (p.Ser1428Leu)
c.3737C>T (p.Ser1246Leu)
c.5651C>T (p.Ser1884Leu)
c.5378C>T (p.Ser1793Leu)
c.4832C>T (p.Ser1611Leu)
c.4559C>T (p.Ser1520Leu)
c.4010C>T (p.Ser1337Leu)
c.5924C>T (p.Ser1975Leu)
c.5648C>T (p.Ser1883Leu)
9g.115040958G>CCA374629061TNCc.567C>G
c.3464C>G (p.Ser1155Ter)
c.4286C>G (p.Ser1429Ter)
c.2318C>G (p.Ser773Ter)
c.974C>G (p.Ser325Ter)
c.4333C>G
c.5375C>G (p.Ser1792Ter)
c.4829C>G (p.Ser1610Ter)
c.4556C>G (p.Ser1519Ter)
n.502C>G
n.289C>G
c.1062C>G
c.5102C>G (p.Ser1701Ter)
c.4283C>G (p.Ser1428Ter)
c.3737C>G (p.Ser1246Ter)
c.5651C>G (p.Ser1884Ter)
c.5378C>G (p.Ser1793Ter)
c.4832C>G (p.Ser1611Ter)
c.4559C>G (p.Ser1520Ter)
c.4010C>G (p.Ser1337Ter)
c.5924C>G (p.Ser1975Ter)
c.5648C>G (p.Ser1883Ter)
9g.115040958G>TCA374629062TNCc.567C>A
c.3464C>A (p.Ser1155Ter)
c.4286C>A (p.Ser1429Ter)
c.2318C>A (p.Ser773Ter)
c.974C>A (p.Ser325Ter)
c.4333C>A
c.5375C>A (p.Ser1792Ter)
c.4829C>A (p.Ser1610Ter)
c.4556C>A (p.Ser1519Ter)
n.502C>A
n.289C>A
c.1062C>A
c.5102C>A (p.Ser1701Ter)
c.4283C>A (p.Ser1428Ter)
c.3737C>A (p.Ser1246Ter)
c.5651C>A (p.Ser1884Ter)
c.5378C>A (p.Ser1793Ter)
c.4832C>A (p.Ser1611Ter)
c.4559C>A (p.Ser1520Ter)
c.4010C>A (p.Ser1337Ter)
c.5924C>A (p.Ser1975Ter)
c.5648C>A (p.Ser1883Ter)
9g.115040959A=CA1874116318TNCc.566T=
c.3463T= (p.Ser1155=)
c.4285T= (p.Ser1429=)
c.2317T= (p.Ser773=)
c.973T= (p.Ser325=)
c.4332T=
c.5374T= (p.Ser1792=)
c.4828T= (p.Ser1610=)
c.4555T= (p.Ser1519=)
n.501T=
n.288T=
c.1061T=
c.5101T= (p.Ser1701=)
c.4282T= (p.Ser1428=)
c.3736T= (p.Ser1246=)
c.5650T= (p.Ser1884=)
c.5377T= (p.Ser1793=)
c.4831T= (p.Ser1611=)
c.4558T= (p.Ser1520=)
c.4009T= (p.Ser1337=)
c.5923T= (p.Ser1975=)
c.5647T= (p.Ser1883=)
9g.115040959A>CCA5207677TNCc.566T>G
c.3463T>G (p.Ser1155Ala)
c.4285T>G (p.Ser1429Ala)
c.2317T>G (p.Ser773Ala)
c.973T>G (p.Ser325Ala)
c.4332T>G
c.5374T>G (p.Ser1792Ala)
c.4828T>G (p.Ser1610Ala)
c.4555T>G (p.Ser1519Ala)
n.501T>G
n.288T>G
c.1061T>G
c.5101T>G (p.Ser1701Ala)
c.4282T>G (p.Ser1428Ala)
c.3736T>G (p.Ser1246Ala)
c.5650T>G (p.Ser1884Ala)
c.5377T>G (p.Ser1793Ala)
c.4831T>G (p.Ser1611Ala)
c.4558T>G (p.Ser1520Ala)
c.4009T>G (p.Ser1337Ala)
c.5923T>G (p.Ser1975Ala)
c.5647T>G (p.Ser1883Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040959A>GCA374629064TNCc.566T>C
c.3463T>C (p.Ser1155Pro)
c.4285T>C (p.Ser1429Pro)
c.2317T>C (p.Ser773Pro)
c.973T>C (p.Ser325Pro)
c.4332T>C
c.5374T>C (p.Ser1792Pro)
c.4828T>C (p.Ser1610Pro)
c.4555T>C (p.Ser1519Pro)
n.501T>C
n.288T>C
c.1061T>C
c.5101T>C (p.Ser1701Pro)
c.4282T>C (p.Ser1428Pro)
c.3736T>C (p.Ser1246Pro)
c.5650T>C (p.Ser1884Pro)
c.5377T>C (p.Ser1793Pro)
c.4831T>C (p.Ser1611Pro)
c.4558T>C (p.Ser1520Pro)
c.4009T>C (p.Ser1337Pro)
c.5923T>C (p.Ser1975Pro)
c.5647T>C (p.Ser1883Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040959A>TCA374629066TNCc.566T>A
c.3463T>A (p.Ser1155Thr)
c.4285T>A (p.Ser1429Thr)
c.2317T>A (p.Ser773Thr)
c.973T>A (p.Ser325Thr)
c.4332T>A
c.5374T>A (p.Ser1792Thr)
c.4828T>A (p.Ser1610Thr)
c.4555T>A (p.Ser1519Thr)
n.501T>A
n.288T>A
c.1061T>A
c.5101T>A (p.Ser1701Thr)
c.4282T>A (p.Ser1428Thr)
c.3736T>A (p.Ser1246Thr)
c.5650T>A (p.Ser1884Thr)
c.5377T>A (p.Ser1793Thr)
c.4831T>A (p.Ser1611Thr)
c.4558T>A (p.Ser1520Thr)
c.4009T>A (p.Ser1337Thr)
c.5923T>A (p.Ser1975Thr)
c.5647T>A (p.Ser1883Thr)
9g.115040960G>ACA466790962TNCc.565C>T
c.3462C>T (p.Val1154=)
c.4284C>T (p.Val1428=)
c.2316C>T (p.Val772=)
c.972C>T (p.Val324=)
c.4331C>T
c.5373C>T (p.Val1791=)
c.4827C>T (p.Val1609=)
c.4554C>T (p.Val1518=)
n.500C>T
n.287C>T
c.1060C>T
c.5100C>T (p.Val1700=)
c.4281C>T (p.Val1427=)
c.3735C>T (p.Val1245=)
c.5649C>T (p.Val1883=)
c.5376C>T (p.Val1792=)
c.4830C>T (p.Val1610=)
c.4557C>T (p.Val1519=)
c.4008C>T (p.Val1336=)
c.5922C>T (p.Val1974=)
c.5646C>T (p.Val1882=)
9g.115040960G>CCA466790963TNCc.565C>G
c.3462C>G (p.Val1154=)
c.4284C>G (p.Val1428=)
c.2316C>G (p.Val772=)
c.972C>G (p.Val324=)
c.4331C>G
c.5373C>G (p.Val1791=)
c.4827C>G (p.Val1609=)
c.4554C>G (p.Val1518=)
n.500C>G
n.287C>G
c.1060C>G
c.5100C>G (p.Val1700=)
c.4281C>G (p.Val1427=)
c.3735C>G (p.Val1245=)
c.5649C>G (p.Val1883=)
c.5376C>G (p.Val1792=)
c.4830C>G (p.Val1610=)
c.4557C>G (p.Val1519=)
c.4008C>G (p.Val1336=)
c.5922C>G (p.Val1974=)
c.5646C>G (p.Val1882=)
9g.115040960G>TCA466790964TNCc.565C>A
c.3462C>A (p.Val1154=)
c.4284C>A (p.Val1428=)
c.2316C>A (p.Val772=)
c.972C>A (p.Val324=)
c.4331C>A
c.5373C>A (p.Val1791=)
c.4827C>A (p.Val1609=)
c.4554C>A (p.Val1518=)
n.500C>A
n.287C>A
c.1060C>A
c.5100C>A (p.Val1700=)
c.4281C>A (p.Val1427=)
c.3735C>A (p.Val1245=)
c.5649C>A (p.Val1883=)
c.5376C>A (p.Val1792=)
c.4830C>A (p.Val1610=)
c.4557C>A (p.Val1519=)
c.4008C>A (p.Val1336=)
c.5922C>A (p.Val1974=)
c.5646C>A (p.Val1882=)
9g.115040961A>CCA374629072TNCc.564T>G
c.3461T>G (p.Val1154Gly)
c.4283T>G (p.Val1428Gly)
c.2315T>G (p.Val772Gly)
c.971T>G (p.Val324Gly)
c.4330T>G
c.5372T>G (p.Val1791Gly)
c.4826T>G (p.Val1609Gly)
c.4553T>G (p.Val1518Gly)
n.499T>G
n.286T>G
c.1059T>G
c.5099T>G (p.Val1700Gly)
c.4280T>G (p.Val1427Gly)
c.3734T>G (p.Val1245Gly)
c.5648T>G (p.Val1883Gly)
c.5375T>G (p.Val1792Gly)
c.4829T>G (p.Val1610Gly)
c.4556T>G (p.Val1519Gly)
c.4007T>G (p.Val1336Gly)
c.5921T>G (p.Val1974Gly)
c.5645T>G (p.Val1882Gly)
9g.115040961A>GCA374629069TNCc.564T>C
c.3461T>C (p.Val1154Ala)
c.4283T>C (p.Val1428Ala)
c.2315T>C (p.Val772Ala)
c.971T>C (p.Val324Ala)
c.4330T>C
c.5372T>C (p.Val1791Ala)
c.4826T>C (p.Val1609Ala)
c.4553T>C (p.Val1518Ala)
n.499T>C
n.286T>C
c.1059T>C
c.5099T>C (p.Val1700Ala)
c.4280T>C (p.Val1427Ala)
c.3734T>C (p.Val1245Ala)
c.5648T>C (p.Val1883Ala)
c.5375T>C (p.Val1792Ala)
c.4829T>C (p.Val1610Ala)
c.4556T>C (p.Val1519Ala)
c.4007T>C (p.Val1336Ala)
c.5921T>C (p.Val1974Ala)
c.5645T>C (p.Val1882Ala)
9g.115040961A>TCA374629070TNCc.564T>A
c.3461T>A (p.Val1154Asp)
c.4283T>A (p.Val1428Asp)
c.2315T>A (p.Val772Asp)
c.971T>A (p.Val324Asp)
c.4330T>A
c.5372T>A (p.Val1791Asp)
c.4826T>A (p.Val1609Asp)
c.4553T>A (p.Val1518Asp)
n.499T>A
n.286T>A
c.1059T>A
c.5099T>A (p.Val1700Asp)
c.4280T>A (p.Val1427Asp)
c.3734T>A (p.Val1245Asp)
c.5648T>A (p.Val1883Asp)
c.5375T>A (p.Val1792Asp)
c.4829T>A (p.Val1610Asp)
c.4556T>A (p.Val1519Asp)
c.4007T>A (p.Val1336Asp)
c.5921T>A (p.Val1974Asp)
c.5645T>A (p.Val1882Asp)
 gnomAD v4
9g.115040962C>ACA374629073TNCc.563G>T
c.3460G>T (p.Val1154Phe)
c.4282G>T (p.Val1428Phe)
c.2314G>T (p.Val772Phe)
c.970G>T (p.Val324Phe)
c.4329G>T
c.5371G>T (p.Val1791Phe)
c.4825G>T (p.Val1609Phe)
c.4552G>T (p.Val1518Phe)
n.498G>T
n.285G>T
c.1058G>T
c.5098G>T (p.Val1700Phe)
c.4279G>T (p.Val1427Phe)
c.3733G>T (p.Val1245Phe)
c.5647G>T (p.Val1883Phe)
c.5374G>T (p.Val1792Phe)
c.4828G>T (p.Val1610Phe)
c.4555G>T (p.Val1519Phe)
c.4006G>T (p.Val1336Phe)
c.5920G>T (p.Val1974Phe)
c.5644G>T (p.Val1882Phe)
9g.115040962C=CA1874116319TNCc.563G=
c.3460G= (p.Val1154=)
c.4282G= (p.Val1428=)
c.2314G= (p.Val772=)
c.970G= (p.Val324=)
c.4329G=
c.5371G= (p.Val1791=)
c.4825G= (p.Val1609=)
c.4552G= (p.Val1518=)
n.498G=
n.285G=
c.1058G=
c.5098G= (p.Val1700=)
c.4279G= (p.Val1427=)
c.3733G= (p.Val1245=)
c.5647G= (p.Val1883=)
c.5374G= (p.Val1792=)
c.4828G= (p.Val1610=)
c.4555G= (p.Val1519=)
c.4006G= (p.Val1336=)
c.5920G= (p.Val1974=)
c.5644G= (p.Val1882=)
9g.115040962C>GCA374629075TNCc.563G>C
c.3460G>C (p.Val1154Leu)
c.4282G>C (p.Val1428Leu)
c.2314G>C (p.Val772Leu)
c.970G>C (p.Val324Leu)
c.4329G>C
c.5371G>C (p.Val1791Leu)
c.4825G>C (p.Val1609Leu)
c.4552G>C (p.Val1518Leu)
n.498G>C
n.285G>C
c.1058G>C
c.5098G>C (p.Val1700Leu)
c.4279G>C (p.Val1427Leu)
c.3733G>C (p.Val1245Leu)
c.5647G>C (p.Val1883Leu)
c.5374G>C (p.Val1792Leu)
c.4828G>C (p.Val1610Leu)
c.4555G>C (p.Val1519Leu)
c.4006G>C (p.Val1336Leu)
c.5920G>C (p.Val1974Leu)
c.5644G>C (p.Val1882Leu)
9g.115040962C>TCA374629077TNCc.563G>A
c.3460G>A (p.Val1154Ile)
c.4282G>A (p.Val1428Ile)
c.2314G>A (p.Val772Ile)
c.970G>A (p.Val324Ile)
c.4329G>A
c.5371G>A (p.Val1791Ile)
c.4825G>A (p.Val1609Ile)
c.4552G>A (p.Val1518Ile)
n.498G>A
n.285G>A
c.1058G>A
c.5098G>A (p.Val1700Ile)
c.4279G>A (p.Val1427Ile)
c.3733G>A (p.Val1245Ile)
c.5647G>A (p.Val1883Ile)
c.5374G>A (p.Val1792Ile)
c.4828G>A (p.Val1610Ile)
c.4555G>A (p.Val1519Ile)
c.4006G>A (p.Val1336Ile)
c.5920G>A (p.Val1974Ile)
c.5644G>A (p.Val1882Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040963A>CCA466790965TNCc.562T>G
c.3459T>G (p.Pro1153=)
c.4281T>G (p.Pro1427=)
c.2313T>G (p.Pro771=)
c.969T>G (p.Pro323=)
c.4328T>G
c.5370T>G (p.Pro1790=)
c.4824T>G (p.Pro1608=)
c.4551T>G (p.Pro1517=)
n.497T>G
n.284T>G
c.1057T>G
c.5097T>G (p.Pro1699=)
c.4278T>G (p.Pro1426=)
c.3732T>G (p.Pro1244=)
c.5646T>G (p.Pro1882=)
c.5373T>G (p.Pro1791=)
c.4827T>G (p.Pro1609=)
c.4554T>G (p.Pro1518=)
c.4005T>G (p.Pro1335=)
c.5919T>G (p.Pro1973=)
c.5643T>G (p.Pro1881=)
9g.115040963A>GCA466790966TNCc.562T>C
c.3459T>C (p.Pro1153=)
c.4281T>C (p.Pro1427=)
c.2313T>C (p.Pro771=)
c.969T>C (p.Pro323=)
c.4328T>C
c.5370T>C (p.Pro1790=)
c.4824T>C (p.Pro1608=)
c.4551T>C (p.Pro1517=)
n.497T>C
n.284T>C
c.1057T>C
c.5097T>C (p.Pro1699=)
c.4278T>C (p.Pro1426=)
c.3732T>C (p.Pro1244=)
c.5646T>C (p.Pro1882=)
c.5373T>C (p.Pro1791=)
c.4827T>C (p.Pro1609=)
c.4554T>C (p.Pro1518=)
c.4005T>C (p.Pro1335=)
c.5919T>C (p.Pro1973=)
c.5643T>C (p.Pro1881=)
9g.115040963A>TCA466790967TNCc.562T>A
c.3459T>A (p.Pro1153=)
c.4281T>A (p.Pro1427=)
c.2313T>A (p.Pro771=)
c.969T>A (p.Pro323=)
c.4328T>A
c.5370T>A (p.Pro1790=)
c.4824T>A (p.Pro1608=)
c.4551T>A (p.Pro1517=)
n.497T>A
n.284T>A
c.1057T>A
c.5097T>A (p.Pro1699=)
c.4278T>A (p.Pro1426=)
c.3732T>A (p.Pro1244=)
c.5646T>A (p.Pro1882=)
c.5373T>A (p.Pro1791=)
c.4827T>A (p.Pro1609=)
c.4554T>A (p.Pro1518=)
c.4005T>A (p.Pro1335=)
c.5919T>A (p.Pro1973=)
c.5643T>A (p.Pro1881=)
9g.115040964G>ACA374629078TNCc.561C>T
c.3458C>T (p.Pro1153Leu)
c.4280C>T (p.Pro1427Leu)
c.2312C>T (p.Pro771Leu)
c.968C>T (p.Pro323Leu)
c.4327C>T
c.5369C>T (p.Pro1790Leu)
c.4823C>T (p.Pro1608Leu)
c.4550C>T (p.Pro1517Leu)
n.496C>T
n.283C>T
c.1056C>T
c.5096C>T (p.Pro1699Leu)
c.4277C>T (p.Pro1426Leu)
c.3731C>T (p.Pro1244Leu)
c.5645C>T (p.Pro1882Leu)
c.5372C>T (p.Pro1791Leu)
c.4826C>T (p.Pro1609Leu)
c.4553C>T (p.Pro1518Leu)
c.4004C>T (p.Pro1335Leu)
c.5918C>T (p.Pro1973Leu)
c.5642C>T (p.Pro1881Leu)
9g.115040964G>CCA374629080TNCc.561C>G
c.3458C>G (p.Pro1153Arg)
c.4280C>G (p.Pro1427Arg)
c.2312C>G (p.Pro771Arg)
c.968C>G (p.Pro323Arg)
c.4327C>G
c.5369C>G (p.Pro1790Arg)
c.4823C>G (p.Pro1608Arg)
c.4550C>G (p.Pro1517Arg)
n.496C>G
n.283C>G
c.1056C>G
c.5096C>G (p.Pro1699Arg)
c.4277C>G (p.Pro1426Arg)
c.3731C>G (p.Pro1244Arg)
c.5645C>G (p.Pro1882Arg)
c.5372C>G (p.Pro1791Arg)
c.4826C>G (p.Pro1609Arg)
c.4553C>G (p.Pro1518Arg)
c.4004C>G (p.Pro1335Arg)
c.5918C>G (p.Pro1973Arg)
c.5642C>G (p.Pro1881Arg)
9g.115040964G>TCA374629082TNCc.561C>A
c.3458C>A (p.Pro1153His)
c.4280C>A (p.Pro1427His)
c.2312C>A (p.Pro771His)
c.968C>A (p.Pro323His)
c.4327C>A
c.5369C>A (p.Pro1790His)
c.4823C>A (p.Pro1608His)
c.4550C>A (p.Pro1517His)
n.496C>A
n.283C>A
c.1056C>A
c.5096C>A (p.Pro1699His)
c.4277C>A (p.Pro1426His)
c.3731C>A (p.Pro1244His)
c.5645C>A (p.Pro1882His)
c.5372C>A (p.Pro1791His)
c.4826C>A (p.Pro1609His)
c.4553C>A (p.Pro1518His)
c.4004C>A (p.Pro1335His)
c.5918C>A (p.Pro1973His)
c.5642C>A (p.Pro1881His)
 gnomAD v4
9g.115040965G>ACA374629084TNCc.560C>T
c.3457C>T (p.Pro1153Ser)
c.4279C>T (p.Pro1427Ser)
c.2311C>T (p.Pro771Ser)
c.967C>T (p.Pro323Ser)
c.4326C>T
c.5368C>T (p.Pro1790Ser)
c.4822C>T (p.Pro1608Ser)
c.4549C>T (p.Pro1517Ser)
n.495C>T
n.282C>T
c.1055C>T
c.5095C>T (p.Pro1699Ser)
c.4276C>T (p.Pro1426Ser)
c.3730C>T (p.Pro1244Ser)
c.5644C>T (p.Pro1882Ser)
c.5371C>T (p.Pro1791Ser)
c.4825C>T (p.Pro1609Ser)
c.4552C>T (p.Pro1518Ser)
c.4003C>T (p.Pro1335Ser)
c.5917C>T (p.Pro1973Ser)
c.5641C>T (p.Pro1881Ser)
 gnomAD v4
9g.115040965G>CCA374629086TNCc.560C>G
c.3457C>G (p.Pro1153Ala)
c.4279C>G (p.Pro1427Ala)
c.2311C>G (p.Pro771Ala)
c.967C>G (p.Pro323Ala)
c.4326C>G
c.5368C>G (p.Pro1790Ala)
c.4822C>G (p.Pro1608Ala)
c.4549C>G (p.Pro1517Ala)
n.495C>G
n.282C>G
c.1055C>G
c.5095C>G (p.Pro1699Ala)
c.4276C>G (p.Pro1426Ala)
c.3730C>G (p.Pro1244Ala)
c.5644C>G (p.Pro1882Ala)
c.5371C>G (p.Pro1791Ala)
c.4825C>G (p.Pro1609Ala)
c.4552C>G (p.Pro1518Ala)
c.4003C>G (p.Pro1335Ala)
c.5917C>G (p.Pro1973Ala)
c.5641C>G (p.Pro1881Ala)
 gnomAD v4
9g.115040965G=CA1874116320TNCc.560C=
c.3457C= (p.Pro1153=)
c.4279C= (p.Pro1427=)
c.2311C= (p.Pro771=)
c.967C= (p.Pro323=)
c.4326C=
c.5368C= (p.Pro1790=)
c.4822C= (p.Pro1608=)
c.4549C= (p.Pro1517=)
n.495C=
n.282C=
c.1055C=
c.5095C= (p.Pro1699=)
c.4276C= (p.Pro1426=)
c.3730C= (p.Pro1244=)
c.5644C= (p.Pro1882=)
c.5371C= (p.Pro1791=)
c.4825C= (p.Pro1609=)
c.4552C= (p.Pro1518=)
c.4003C= (p.Pro1335=)
c.5917C= (p.Pro1973=)
c.5641C= (p.Pro1881=)
9g.115040965G>TCA5207678TNCc.560C>A
c.3457C>A (p.Pro1153Thr)
c.4279C>A (p.Pro1427Thr)
c.2311C>A (p.Pro771Thr)
c.967C>A (p.Pro323Thr)
c.4326C>A
c.5368C>A (p.Pro1790Thr)
c.4822C>A (p.Pro1608Thr)
c.4549C>A (p.Pro1517Thr)
n.495C>A
n.282C>A
c.1055C>A
c.5095C>A (p.Pro1699Thr)
c.4276C>A (p.Pro1426Thr)
c.3730C>A (p.Pro1244Thr)
c.5644C>A (p.Pro1882Thr)
c.5371C>A (p.Pro1791Thr)
c.4825C>A (p.Pro1609Thr)
c.4552C>A (p.Pro1518Thr)
c.4003C>A (p.Pro1335Thr)
c.5917C>A (p.Pro1973Thr)
c.5641C>A (p.Pro1881Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040966T>ACA374629089TNCc.559A>T
c.3456A>T (p.Glu1152Asp)
c.4278A>T (p.Glu1426Asp)
c.2310A>T (p.Glu770Asp)
c.966A>T (p.Glu322Asp)
c.4325A>T
c.5367A>T (p.Glu1789Asp)
c.4821A>T (p.Glu1607Asp)
c.4548A>T (p.Glu1516Asp)
n.494A>T
n.281A>T
c.1054A>T
c.5094A>T (p.Glu1698Asp)
c.4275A>T (p.Glu1425Asp)
c.3729A>T (p.Glu1243Asp)
c.5643A>T (p.Glu1881Asp)
c.5370A>T (p.Glu1790Asp)
c.4824A>T (p.Glu1608Asp)
c.4551A>T (p.Glu1517Asp)
c.4002A>T (p.Glu1334Asp)
c.5916A>T (p.Glu1972Asp)
c.5640A>T (p.Glu1880Asp)
9g.115040966T>CCA466790968TNCc.559A>G
c.3456A>G (p.Glu1152=)
c.4278A>G (p.Glu1426=)
c.2310A>G (p.Glu770=)
c.966A>G (p.Glu322=)
c.4325A>G
c.5367A>G (p.Glu1789=)
c.4821A>G (p.Glu1607=)
c.4548A>G (p.Glu1516=)
n.494A>G
n.281A>G
c.1054A>G
c.5094A>G (p.Glu1698=)
c.4275A>G (p.Glu1425=)
c.3729A>G (p.Glu1243=)
c.5643A>G (p.Glu1881=)
c.5370A>G (p.Glu1790=)
c.4824A>G (p.Glu1608=)
c.4551A>G (p.Glu1517=)
c.4002A>G (p.Glu1334=)
c.5916A>G (p.Glu1972=)
c.5640A>G (p.Glu1880=)
9g.115040966T>GCA374629091TNCc.559A>C
c.3456A>C (p.Glu1152Asp)
c.4278A>C (p.Glu1426Asp)
c.2310A>C (p.Glu770Asp)
c.966A>C (p.Glu322Asp)
c.4325A>C
c.5367A>C (p.Glu1789Asp)
c.4821A>C (p.Glu1607Asp)
c.4548A>C (p.Glu1516Asp)
n.494A>C
n.281A>C
c.1054A>C
c.5094A>C (p.Glu1698Asp)
c.4275A>C (p.Glu1425Asp)
c.3729A>C (p.Glu1243Asp)
c.5643A>C (p.Glu1881Asp)
c.5370A>C (p.Glu1790Asp)
c.4824A>C (p.Glu1608Asp)
c.4551A>C (p.Glu1517Asp)
c.4002A>C (p.Glu1334Asp)
c.5916A>C (p.Glu1972Asp)
c.5640A>C (p.Glu1880Asp)
9g.115040967T>ACA374629097TNCc.558A>T
c.3455A>T (p.Glu1152Val)
c.4277A>T (p.Glu1426Val)
c.2309A>T (p.Glu770Val)
c.965A>T (p.Glu322Val)
c.4324A>T
c.5366A>T (p.Glu1789Val)
c.4820A>T (p.Glu1607Val)
c.4547A>T (p.Glu1516Val)
n.493A>T
n.280A>T
c.1053A>T
c.5093A>T (p.Glu1698Val)
c.4274A>T (p.Glu1425Val)
c.3728A>T (p.Glu1243Val)
c.5642A>T (p.Glu1881Val)
c.5369A>T (p.Glu1790Val)
c.4823A>T (p.Glu1608Val)
c.4550A>T (p.Glu1517Val)
c.4001A>T (p.Glu1334Val)
c.5915A>T (p.Glu1972Val)
c.5639A>T (p.Glu1880Val)
9g.115040967T>CCA374629095TNCc.558A>G
c.3455A>G (p.Glu1152Gly)
c.4277A>G (p.Glu1426Gly)
c.2309A>G (p.Glu770Gly)
c.965A>G (p.Glu322Gly)
c.4324A>G
c.5366A>G (p.Glu1789Gly)
c.4820A>G (p.Glu1607Gly)
c.4547A>G (p.Glu1516Gly)
n.493A>G
n.280A>G
c.1053A>G
c.5093A>G (p.Glu1698Gly)
c.4274A>G (p.Glu1425Gly)
c.3728A>G (p.Glu1243Gly)
c.5642A>G (p.Glu1881Gly)
c.5369A>G (p.Glu1790Gly)
c.4823A>G (p.Glu1608Gly)
c.4550A>G (p.Glu1517Gly)
c.4001A>G (p.Glu1334Gly)
c.5915A>G (p.Glu1972Gly)
c.5639A>G (p.Glu1880Gly)
9g.115040967T>GCA374629093TNCc.558A>C
c.3455A>C (p.Glu1152Ala)
c.4277A>C (p.Glu1426Ala)
c.2309A>C (p.Glu770Ala)
c.965A>C (p.Glu322Ala)
c.4324A>C
c.5366A>C (p.Glu1789Ala)
c.4820A>C (p.Glu1607Ala)
c.4547A>C (p.Glu1516Ala)
n.493A>C
n.280A>C
c.1053A>C
c.5093A>C (p.Glu1698Ala)
c.4274A>C (p.Glu1425Ala)
c.3728A>C (p.Glu1243Ala)
c.5642A>C (p.Glu1881Ala)
c.5369A>C (p.Glu1790Ala)
c.4823A>C (p.Glu1608Ala)
c.4550A>C (p.Glu1517Ala)
c.4001A>C (p.Glu1334Ala)
c.5915A>C (p.Glu1972Ala)
c.5639A>C (p.Glu1880Ala)
9g.115040968C>ACA374629100TNCc.557G>T
c.3454G>T (p.Glu1152Ter)
c.4276G>T (p.Glu1426Ter)
c.2308G>T (p.Glu770Ter)
c.964G>T (p.Glu322Ter)
c.4323G>T
c.5365G>T (p.Glu1789Ter)
c.4819G>T (p.Glu1607Ter)
c.4546G>T (p.Glu1516Ter)
n.492G>T
n.279G>T
c.1052G>T
c.5092G>T (p.Glu1698Ter)
c.4273G>T (p.Glu1425Ter)
c.3727G>T (p.Glu1243Ter)
c.5641G>T (p.Glu1881Ter)
c.5368G>T (p.Glu1790Ter)
c.4822G>T (p.Glu1608Ter)
c.4549G>T (p.Glu1517Ter)
c.4000G>T (p.Glu1334Ter)
c.5914G>T (p.Glu1972Ter)
c.5638G>T (p.Glu1880Ter)
9g.115040968C=CA1874116321TNCc.557G=
c.3454G= (p.Glu1152=)
c.4276G= (p.Glu1426=)
c.2308G= (p.Glu770=)
c.964G= (p.Glu322=)
c.4323G=
c.5365G= (p.Glu1789=)
c.4819G= (p.Glu1607=)
c.4546G= (p.Glu1516=)
n.492G=
n.279G=
c.1052G=
c.5092G= (p.Glu1698=)
c.4273G= (p.Glu1425=)
c.3727G= (p.Glu1243=)
c.5641G= (p.Glu1881=)
c.5368G= (p.Glu1790=)
c.4822G= (p.Glu1608=)
c.4549G= (p.Glu1517=)
c.4000G= (p.Glu1334=)
c.5914G= (p.Glu1972=)
c.5638G= (p.Glu1880=)
9g.115040968C>GCA374629104TNCc.557G>C
c.3454G>C (p.Glu1152Gln)
c.4276G>C (p.Glu1426Gln)
c.2308G>C (p.Glu770Gln)
c.964G>C (p.Glu322Gln)
c.4323G>C
c.5365G>C (p.Glu1789Gln)
c.4819G>C (p.Glu1607Gln)
c.4546G>C (p.Glu1516Gln)
n.492G>C
n.279G>C
c.1052G>C
c.5092G>C (p.Glu1698Gln)
c.4273G>C (p.Glu1425Gln)
c.3727G>C (p.Glu1243Gln)
c.5641G>C (p.Glu1881Gln)
c.5368G>C (p.Glu1790Gln)
c.4822G>C (p.Glu1608Gln)
c.4549G>C (p.Glu1517Gln)
c.4000G>C (p.Glu1334Gln)
c.5914G>C (p.Glu1972Gln)
c.5638G>C (p.Glu1880Gln)
 dbSNP
9g.115040968C>TCA374629102TNCc.557G>A
c.3454G>A (p.Glu1152Lys)
c.4276G>A (p.Glu1426Lys)
c.2308G>A (p.Glu770Lys)
c.964G>A (p.Glu322Lys)
c.4323G>A
c.5365G>A (p.Glu1789Lys)
c.4819G>A (p.Glu1607Lys)
c.4546G>A (p.Glu1516Lys)
n.492G>A
n.279G>A
c.1052G>A
c.5092G>A (p.Glu1698Lys)
c.4273G>A (p.Glu1425Lys)
c.3727G>A (p.Glu1243Lys)
c.5641G>A (p.Glu1881Lys)
c.5368G>A (p.Glu1790Lys)
c.4822G>A (p.Glu1608Lys)
c.4549G>A (p.Glu1517Lys)
c.4000G>A (p.Glu1334Lys)
c.5914G>A (p.Glu1972Lys)
c.5638G>A (p.Glu1880Lys)
9g.115040969A>CCA374629106TNCc.556T>G
c.3453T>G (p.Ser1151Arg)
c.4275T>G (p.Ser1425Arg)
c.2307T>G (p.Ser769Arg)
c.963T>G (p.Ser321Arg)
c.4322T>G
c.5364T>G (p.Ser1788Arg)
c.4818T>G (p.Ser1606Arg)
c.4545T>G (p.Ser1515Arg)
n.491T>G
n.278T>G
c.1051T>G
c.5091T>G (p.Ser1697Arg)
c.4272T>G (p.Ser1424Arg)
c.3726T>G (p.Ser1242Arg)
c.5640T>G (p.Ser1880Arg)
c.5367T>G (p.Ser1789Arg)
c.4821T>G (p.Ser1607Arg)
c.4548T>G (p.Ser1516Arg)
c.3999T>G (p.Ser1333Arg)
c.5913T>G (p.Ser1971Arg)
c.5637T>G (p.Ser1879Arg)
 gnomAD v4
9g.115040969A>GCA466790969TNCc.556T>C
c.3453T>C (p.Ser1151=)
c.4275T>C (p.Ser1425=)
c.2307T>C (p.Ser769=)
c.963T>C (p.Ser321=)
c.4322T>C
c.5364T>C (p.Ser1788=)
c.4818T>C (p.Ser1606=)
c.4545T>C (p.Ser1515=)
n.491T>C
n.278T>C
c.1051T>C
c.5091T>C (p.Ser1697=)
c.4272T>C (p.Ser1424=)
c.3726T>C (p.Ser1242=)
c.5640T>C (p.Ser1880=)
c.5367T>C (p.Ser1789=)
c.4821T>C (p.Ser1607=)
c.4548T>C (p.Ser1516=)
c.3999T>C (p.Ser1333=)
c.5913T>C (p.Ser1971=)
c.5637T>C (p.Ser1879=)
9g.115040969A>TCA374629108TNCc.556T>A
c.3453T>A (p.Ser1151Arg)
c.4275T>A (p.Ser1425Arg)
c.2307T>A (p.Ser769Arg)
c.963T>A (p.Ser321Arg)
c.4322T>A
c.5364T>A (p.Ser1788Arg)
c.4818T>A (p.Ser1606Arg)
c.4545T>A (p.Ser1515Arg)
n.491T>A
n.278T>A
c.1051T>A
c.5091T>A (p.Ser1697Arg)
c.4272T>A (p.Ser1424Arg)
c.3726T>A (p.Ser1242Arg)
c.5640T>A (p.Ser1880Arg)
c.5367T>A (p.Ser1789Arg)
c.4821T>A (p.Ser1607Arg)
c.4548T>A (p.Ser1516Arg)
c.3999T>A (p.Ser1333Arg)
c.5913T>A (p.Ser1971Arg)
c.5637T>A (p.Ser1879Arg)
9g.115040970C>ACA374629110TNCc.555G>T
c.3452G>T (p.Ser1151Ile)
c.4274G>T (p.Ser1425Ile)
c.2306G>T (p.Ser769Ile)
c.962G>T (p.Ser321Ile)
c.4321G>T
c.5363G>T (p.Ser1788Ile)
c.4817G>T (p.Ser1606Ile)
c.4544G>T (p.Ser1515Ile)
n.490G>T
n.277G>T
c.1050G>T
c.5090G>T (p.Ser1697Ile)
c.4271G>T (p.Ser1424Ile)
c.3725G>T (p.Ser1242Ile)
c.5639G>T (p.Ser1880Ile)
c.5366G>T (p.Ser1789Ile)
c.4820G>T (p.Ser1607Ile)
c.4547G>T (p.Ser1516Ile)
c.3998G>T (p.Ser1333Ile)
c.5912G>T (p.Ser1971Ile)
c.5636G>T (p.Ser1879Ile)
9g.115040970C>GCA374629112TNCc.555G>C
c.3452G>C (p.Ser1151Thr)
c.4274G>C (p.Ser1425Thr)
c.2306G>C (p.Ser769Thr)
c.962G>C (p.Ser321Thr)
c.4321G>C
c.5363G>C (p.Ser1788Thr)
c.4817G>C (p.Ser1606Thr)
c.4544G>C (p.Ser1515Thr)
n.490G>C
n.277G>C
c.1050G>C
c.5090G>C (p.Ser1697Thr)
c.4271G>C (p.Ser1424Thr)
c.3725G>C (p.Ser1242Thr)
c.5639G>C (p.Ser1880Thr)
c.5366G>C (p.Ser1789Thr)
c.4820G>C (p.Ser1607Thr)
c.4547G>C (p.Ser1516Thr)
c.3998G>C (p.Ser1333Thr)
c.5912G>C (p.Ser1971Thr)
c.5636G>C (p.Ser1879Thr)
9g.115040970C>TCA374629114TNCc.555G>A
c.3452G>A (p.Ser1151Asn)
c.4274G>A (p.Ser1425Asn)
c.2306G>A (p.Ser769Asn)
c.962G>A (p.Ser321Asn)
c.4321G>A
c.5363G>A (p.Ser1788Asn)
c.4817G>A (p.Ser1606Asn)
c.4544G>A (p.Ser1515Asn)
n.490G>A
n.277G>A
c.1050G>A
c.5090G>A (p.Ser1697Asn)
c.4271G>A (p.Ser1424Asn)
c.3725G>A (p.Ser1242Asn)
c.5639G>A (p.Ser1880Asn)
c.5366G>A (p.Ser1789Asn)
c.4820G>A (p.Ser1607Asn)
c.4547G>A (p.Ser1516Asn)
c.3998G>A (p.Ser1333Asn)
c.5912G>A (p.Ser1971Asn)
c.5636G>A (p.Ser1879Asn)
 gnomAD v4
9g.115040971T>ACA374629117TNCc.554A>T
c.3451A>T (p.Ser1151Cys)
c.4273A>T (p.Ser1425Cys)
c.2305A>T (p.Ser769Cys)
c.961A>T (p.Ser321Cys)
c.4320A>T
c.5362A>T (p.Ser1788Cys)
c.4816A>T (p.Ser1606Cys)
c.4543A>T (p.Ser1515Cys)
n.489A>T
n.276A>T
c.1049A>T
c.5089A>T (p.Ser1697Cys)
c.4270A>T (p.Ser1424Cys)
c.3724A>T (p.Ser1242Cys)
c.5638A>T (p.Ser1880Cys)
c.5365A>T (p.Ser1789Cys)
c.4819A>T (p.Ser1607Cys)
c.4546A>T (p.Ser1516Cys)
c.3997A>T (p.Ser1333Cys)
c.5911A>T (p.Ser1971Cys)
c.5635A>T (p.Ser1879Cys)
9g.115040971T>CCA374629118TNCc.554A>G
c.3451A>G (p.Ser1151Gly)
c.4273A>G (p.Ser1425Gly)
c.2305A>G (p.Ser769Gly)
c.961A>G (p.Ser321Gly)
c.4320A>G
c.5362A>G (p.Ser1788Gly)
c.4816A>G (p.Ser1606Gly)
c.4543A>G (p.Ser1515Gly)
n.489A>G
n.276A>G
c.1049A>G
c.5089A>G (p.Ser1697Gly)
c.4270A>G (p.Ser1424Gly)
c.3724A>G (p.Ser1242Gly)
c.5638A>G (p.Ser1880Gly)
c.5365A>G (p.Ser1789Gly)
c.4819A>G (p.Ser1607Gly)
c.4546A>G (p.Ser1516Gly)
c.3997A>G (p.Ser1333Gly)
c.5911A>G (p.Ser1971Gly)
c.5635A>G (p.Ser1879Gly)
9g.115040971T>GCA374629120TNCc.554A>C
c.3451A>C (p.Ser1151Arg)
c.4273A>C (p.Ser1425Arg)
c.2305A>C (p.Ser769Arg)
c.961A>C (p.Ser321Arg)
c.4320A>C
c.5362A>C (p.Ser1788Arg)
c.4816A>C (p.Ser1606Arg)
c.4543A>C (p.Ser1515Arg)
n.489A>C
n.276A>C
c.1049A>C
c.5089A>C (p.Ser1697Arg)
c.4270A>C (p.Ser1424Arg)
c.3724A>C (p.Ser1242Arg)
c.5638A>C (p.Ser1880Arg)
c.5365A>C (p.Ser1789Arg)
c.4819A>C (p.Ser1607Arg)
c.4546A>C (p.Ser1516Arg)
c.3997A>C (p.Ser1333Arg)
c.5911A>C (p.Ser1971Arg)
c.5635A>C (p.Ser1879Arg)
9g.115040972T>ACA374629122TNCc.553A>T
c.3450A>T (p.Glu1150Asp)
c.4272A>T (p.Glu1424Asp)
c.2304A>T (p.Glu768Asp)
c.960A>T (p.Glu320Asp)
c.4319A>T
c.5361A>T (p.Glu1787Asp)
c.4815A>T (p.Glu1605Asp)
c.4542A>T (p.Glu1514Asp)
n.488A>T
n.275A>T
c.1048A>T
c.5088A>T (p.Glu1696Asp)
c.4269A>T (p.Glu1423Asp)
c.3723A>T (p.Glu1241Asp)
c.5637A>T (p.Glu1879Asp)
c.5364A>T (p.Glu1788Asp)
c.4818A>T (p.Glu1606Asp)
c.4545A>T (p.Glu1515Asp)
c.3996A>T (p.Glu1332Asp)
c.5910A>T (p.Glu1970Asp)
c.5634A>T (p.Glu1878Asp)
9g.115040972T>CCA466790970TNCc.553A>G
c.3450A>G (p.Glu1150=)
c.4272A>G (p.Glu1424=)
c.2304A>G (p.Glu768=)
c.960A>G (p.Glu320=)
c.4319A>G
c.5361A>G (p.Glu1787=)
c.4815A>G (p.Glu1605=)
c.4542A>G (p.Glu1514=)
n.488A>G
n.275A>G
c.1048A>G
c.5088A>G (p.Glu1696=)
c.4269A>G (p.Glu1423=)
c.3723A>G (p.Glu1241=)
c.5637A>G (p.Glu1879=)
c.5364A>G (p.Glu1788=)
c.4818A>G (p.Glu1606=)
c.4545A>G (p.Glu1515=)
c.3996A>G (p.Glu1332=)
c.5910A>G (p.Glu1970=)
c.5634A>G (p.Glu1878=)
9g.115040972T>GCA374629124TNCc.553A>C
c.3450A>C (p.Glu1150Asp)
c.4272A>C (p.Glu1424Asp)
c.2304A>C (p.Glu768Asp)
c.960A>C (p.Glu320Asp)
c.4319A>C
c.5361A>C (p.Glu1787Asp)
c.4815A>C (p.Glu1605Asp)
c.4542A>C (p.Glu1514Asp)
n.488A>C
n.275A>C
c.1048A>C
c.5088A>C (p.Glu1696Asp)
c.4269A>C (p.Glu1423Asp)
c.3723A>C (p.Glu1241Asp)
c.5637A>C (p.Glu1879Asp)
c.5364A>C (p.Glu1788Asp)
c.4818A>C (p.Glu1606Asp)
c.4545A>C (p.Glu1515Asp)
c.3996A>C (p.Glu1332Asp)
c.5910A>C (p.Glu1970Asp)
c.5634A>C (p.Glu1878Asp)
9g.115040973T>ACA374629126TNCc.552A>T
c.3449A>T (p.Glu1150Val)
c.4271A>T (p.Glu1424Val)
c.2303A>T (p.Glu768Val)
c.959A>T (p.Glu320Val)
c.4318A>T
c.5360A>T (p.Glu1787Val)
c.4814A>T (p.Glu1605Val)
c.4541A>T (p.Glu1514Val)
n.487A>T
n.274A>T
c.1047A>T
c.5087A>T (p.Glu1696Val)
c.4268A>T (p.Glu1423Val)
c.3722A>T (p.Glu1241Val)
c.5636A>T (p.Glu1879Val)
c.5363A>T (p.Glu1788Val)
c.4817A>T (p.Glu1606Val)
c.4544A>T (p.Glu1515Val)
c.3995A>T (p.Glu1332Val)
c.5909A>T (p.Glu1970Val)
c.5633A>T (p.Glu1878Val)
9g.115040973T>CCA5207679TNCc.552A>G
c.3449A>G (p.Glu1150Gly)
c.4271A>G (p.Glu1424Gly)
c.2303A>G (p.Glu768Gly)
c.959A>G (p.Glu320Gly)
c.4318A>G
c.5360A>G (p.Glu1787Gly)
c.4814A>G (p.Glu1605Gly)
c.4541A>G (p.Glu1514Gly)
n.487A>G
n.274A>G
c.1047A>G
c.5087A>G (p.Glu1696Gly)
c.4268A>G (p.Glu1423Gly)
c.3722A>G (p.Glu1241Gly)
c.5636A>G (p.Glu1879Gly)
c.5363A>G (p.Glu1788Gly)
c.4817A>G (p.Glu1606Gly)
c.4544A>G (p.Glu1515Gly)
c.3995A>G (p.Glu1332Gly)
c.5909A>G (p.Glu1970Gly)
c.5633A>G (p.Glu1878Gly)
 dbSNP ExAC gnomAD v4
9g.115040973T>GCA374629129TNCc.552A>C
c.3449A>C (p.Glu1150Ala)
c.4271A>C (p.Glu1424Ala)
c.2303A>C (p.Glu768Ala)
c.959A>C (p.Glu320Ala)
c.4318A>C
c.5360A>C (p.Glu1787Ala)
c.4814A>C (p.Glu1605Ala)
c.4541A>C (p.Glu1514Ala)
n.487A>C
n.274A>C
c.1047A>C
c.5087A>C (p.Glu1696Ala)
c.4268A>C (p.Glu1423Ala)
c.3722A>C (p.Glu1241Ala)
c.5636A>C (p.Glu1879Ala)
c.5363A>C (p.Glu1788Ala)
c.4817A>C (p.Glu1606Ala)
c.4544A>C (p.Glu1515Ala)
c.3995A>C (p.Glu1332Ala)
c.5909A>C (p.Glu1970Ala)
c.5633A>C (p.Glu1878Ala)
9g.115040973T=CA1874116322TNCc.552A=
c.3449A= (p.Glu1150=)
c.4271A= (p.Glu1424=)
c.2303A= (p.Glu768=)
c.959A= (p.Glu320=)
c.4318A=
c.5360A= (p.Glu1787=)
c.4814A= (p.Glu1605=)
c.4541A= (p.Glu1514=)
n.487A=
n.274A=
c.1047A=
c.5087A= (p.Glu1696=)
c.4268A= (p.Glu1423=)
c.3722A= (p.Glu1241=)
c.5636A= (p.Glu1879=)
c.5363A= (p.Glu1788=)
c.4817A= (p.Glu1606=)
c.4544A= (p.Glu1515=)
c.3995A= (p.Glu1332=)
c.5909A= (p.Glu1970=)
c.5633A= (p.Glu1878=)
9g.115040974C>ACA374629133TNCc.551G>T
c.3448G>T (p.Glu1150Ter)
c.4270G>T (p.Glu1424Ter)
c.2302G>T (p.Glu768Ter)
c.958G>T (p.Glu320Ter)
c.4317G>T
c.5359G>T (p.Glu1787Ter)
c.4813G>T (p.Glu1605Ter)
c.4540G>T (p.Glu1514Ter)
n.486G>T
n.273G>T
c.1046G>T
c.5086G>T (p.Glu1696Ter)
c.4267G>T (p.Glu1423Ter)
c.3721G>T (p.Glu1241Ter)
c.5635G>T (p.Glu1879Ter)
c.5362G>T (p.Glu1788Ter)
c.4816G>T (p.Glu1606Ter)
c.4543G>T (p.Glu1515Ter)
c.3994G>T (p.Glu1332Ter)
c.5908G>T (p.Glu1970Ter)
c.5632G>T (p.Glu1878Ter)
9g.115040974C=CA1874116323TNCc.551G=
c.3448G= (p.Glu1150=)
c.4270G= (p.Glu1424=)
c.2302G= (p.Glu768=)
c.958G= (p.Glu320=)
c.4317G=
c.5359G= (p.Glu1787=)
c.4813G= (p.Glu1605=)
c.4540G= (p.Glu1514=)
n.486G=
n.273G=
c.1046G=
c.5086G= (p.Glu1696=)
c.4267G= (p.Glu1423=)
c.3721G= (p.Glu1241=)
c.5635G= (p.Glu1879=)
c.5362G= (p.Glu1788=)
c.4816G= (p.Glu1606=)
c.4543G= (p.Glu1515=)
c.3994G= (p.Glu1332=)
c.5908G= (p.Glu1970=)
c.5632G= (p.Glu1878=)
9g.115040974C>GCA374629131TNCc.551G>C
c.3448G>C (p.Glu1150Gln)
c.4270G>C (p.Glu1424Gln)
c.2302G>C (p.Glu768Gln)
c.958G>C (p.Glu320Gln)
c.4317G>C
c.5359G>C (p.Glu1787Gln)
c.4813G>C (p.Glu1605Gln)
c.4540G>C (p.Glu1514Gln)
n.486G>C
n.273G>C
c.1046G>C
c.5086G>C (p.Glu1696Gln)
c.4267G>C (p.Glu1423Gln)
c.3721G>C (p.Glu1241Gln)
c.5635G>C (p.Glu1879Gln)
c.5362G>C (p.Glu1788Gln)
c.4816G>C (p.Glu1606Gln)
c.4543G>C (p.Glu1515Gln)
c.3994G>C (p.Glu1332Gln)
c.5908G>C (p.Glu1970Gln)
c.5632G>C (p.Glu1878Gln)
9g.115040974C>TCA198685240TNCc.551G>A
c.3448G>A (p.Glu1150Lys)
c.4270G>A (p.Glu1424Lys)
c.2302G>A (p.Glu768Lys)
c.958G>A (p.Glu320Lys)
c.4317G>A
c.5359G>A (p.Glu1787Lys)
c.4813G>A (p.Glu1605Lys)
c.4540G>A (p.Glu1514Lys)
n.486G>A
n.273G>A
c.1046G>A
c.5086G>A (p.Glu1696Lys)
c.4267G>A (p.Glu1423Lys)
c.3721G>A (p.Glu1241Lys)
c.5635G>A (p.Glu1879Lys)
c.5362G>A (p.Glu1788Lys)
c.4816G>A (p.Glu1606Lys)
c.4543G>A (p.Glu1515Lys)
c.3994G>A (p.Glu1332Lys)
c.5908G>A (p.Glu1970Lys)
c.5632G>A (p.Glu1878Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115040975C>ACA374629135TNCc.550G>T
c.3447G>T (p.Glu1149Asp)
c.4269G>T (p.Glu1423Asp)
c.2301G>T (p.Glu767Asp)
c.957G>T (p.Glu319Asp)
c.4316G>T
c.5358G>T (p.Glu1786Asp)
c.4812G>T (p.Glu1604Asp)
c.4539G>T (p.Glu1513Asp)
n.485G>T
n.272G>T
c.1045G>T
c.5085G>T (p.Glu1695Asp)
c.4266G>T (p.Glu1422Asp)
c.3720G>T (p.Glu1240Asp)
c.5634G>T (p.Glu1878Asp)
c.5361G>T (p.Glu1787Asp)
c.4815G>T (p.Glu1605Asp)
c.4542G>T (p.Glu1514Asp)
c.3993G>T (p.Glu1331Asp)
c.5907G>T (p.Glu1969Asp)
c.5631G>T (p.Glu1877Asp)
9g.115040975C>GCA374629137TNCc.550G>C
c.3447G>C (p.Glu1149Asp)
c.4269G>C (p.Glu1423Asp)
c.2301G>C (p.Glu767Asp)
c.957G>C (p.Glu319Asp)
c.4316G>C
c.5358G>C (p.Glu1786Asp)
c.4812G>C (p.Glu1604Asp)
c.4539G>C (p.Glu1513Asp)
n.485G>C
n.272G>C
c.1045G>C
c.5085G>C (p.Glu1695Asp)
c.4266G>C (p.Glu1422Asp)
c.3720G>C (p.Glu1240Asp)
c.5634G>C (p.Glu1878Asp)
c.5361G>C (p.Glu1787Asp)
c.4815G>C (p.Glu1605Asp)
c.4542G>C (p.Glu1514Asp)
c.3993G>C (p.Glu1331Asp)
c.5907G>C (p.Glu1969Asp)
c.5631G>C (p.Glu1877Asp)
9g.115040975C>TCA466790971TNCc.550G>A
c.3447G>A (p.Glu1149=)
c.4269G>A (p.Glu1423=)
c.2301G>A (p.Glu767=)
c.957G>A (p.Glu319=)
c.4316G>A
c.5358G>A (p.Glu1786=)
c.4812G>A (p.Glu1604=)
c.4539G>A (p.Glu1513=)
n.485G>A
n.272G>A
c.1045G>A
c.5085G>A (p.Glu1695=)
c.4266G>A (p.Glu1422=)
c.3720G>A (p.Glu1240=)
c.5634G>A (p.Glu1878=)
c.5361G>A (p.Glu1787=)
c.4815G>A (p.Glu1605=)
c.4542G>A (p.Glu1514=)
c.3993G>A (p.Glu1331=)
c.5907G>A (p.Glu1969=)
c.5631G>A (p.Glu1877=)
9g.115040976T>ACA374629139TNCc.549A>T
c.3446A>T (p.Glu1149Val)
c.4268A>T (p.Glu1423Val)
c.2300A>T (p.Glu767Val)
c.956A>T (p.Glu319Val)
c.4315A>T
c.5357A>T (p.Glu1786Val)
c.4811A>T (p.Glu1604Val)
c.4538A>T (p.Glu1513Val)
n.484A>T
n.271A>T
c.1044A>T
c.5084A>T (p.Glu1695Val)
c.4265A>T (p.Glu1422Val)
c.3719A>T (p.Glu1240Val)
c.5633A>T (p.Glu1878Val)
c.5360A>T (p.Glu1787Val)
c.4814A>T (p.Glu1605Val)
c.4541A>T (p.Glu1514Val)
c.3992A>T (p.Glu1331Val)
c.5906A>T (p.Glu1969Val)
c.5630A>T (p.Glu1877Val)
9g.115040976T>CCA374629141TNCc.549A>G
c.3446A>G (p.Glu1149Gly)
c.4268A>G (p.Glu1423Gly)
c.2300A>G (p.Glu767Gly)
c.956A>G (p.Glu319Gly)
c.4315A>G
c.5357A>G (p.Glu1786Gly)
c.4811A>G (p.Glu1604Gly)
c.4538A>G (p.Glu1513Gly)
n.484A>G
n.271A>G
c.1044A>G
c.5084A>G (p.Glu1695Gly)
c.4265A>G (p.Glu1422Gly)
c.3719A>G (p.Glu1240Gly)
c.5633A>G (p.Glu1878Gly)
c.5360A>G (p.Glu1787Gly)
c.4814A>G (p.Glu1605Gly)
c.4541A>G (p.Glu1514Gly)
c.3992A>G (p.Glu1331Gly)
c.5906A>G (p.Glu1969Gly)
c.5630A>G (p.Glu1877Gly)
9g.115040976T>GCA374629142TNCc.549A>C
c.3446A>C (p.Glu1149Ala)
c.4268A>C (p.Glu1423Ala)
c.2300A>C (p.Glu767Ala)
c.956A>C (p.Glu319Ala)
c.4315A>C
c.5357A>C (p.Glu1786Ala)
c.4811A>C (p.Glu1604Ala)
c.4538A>C (p.Glu1513Ala)
n.484A>C
n.271A>C
c.1044A>C
c.5084A>C (p.Glu1695Ala)
c.4265A>C (p.Glu1422Ala)
c.3719A>C (p.Glu1240Ala)
c.5633A>C (p.Glu1878Ala)
c.5360A>C (p.Glu1787Ala)
c.4814A>C (p.Glu1605Ala)
c.4541A>C (p.Glu1514Ala)
c.3992A>C (p.Glu1331Ala)
c.5906A>C (p.Glu1969Ala)
c.5630A>C (p.Glu1877Ala)
9g.115040977C>ACA374629144TNCc.548G>T
c.3445G>T (p.Glu1149Ter)
c.4267G>T (p.Glu1423Ter)
c.2299G>T (p.Glu767Ter)
c.955G>T (p.Glu319Ter)
c.4314G>T
c.5356G>T (p.Glu1786Ter)
c.4810G>T (p.Glu1604Ter)
c.4537G>T (p.Glu1513Ter)
n.483G>T
n.270G>T
c.1043G>T
c.5083G>T (p.Glu1695Ter)
c.4264G>T (p.Glu1422Ter)
c.3718G>T (p.Glu1240Ter)
c.5632G>T (p.Glu1878Ter)
c.5359G>T (p.Glu1787Ter)
c.4813G>T (p.Glu1605Ter)
c.4540G>T (p.Glu1514Ter)
c.3991G>T (p.Glu1331Ter)
c.5905G>T (p.Glu1969Ter)
c.5629G>T (p.Glu1877Ter)
9g.115040977C=CA1874116324TNCc.548G=
c.3445G= (p.Glu1149=)
c.4267G= (p.Glu1423=)
c.2299G= (p.Glu767=)
c.955G= (p.Glu319=)
c.4314G=
c.5356G= (p.Glu1786=)
c.4810G= (p.Glu1604=)
c.4537G= (p.Glu1513=)
n.483G=
n.270G=
c.1043G=
c.5083G= (p.Glu1695=)
c.4264G= (p.Glu1422=)
c.3718G= (p.Glu1240=)
c.5632G= (p.Glu1878=)
c.5359G= (p.Glu1787=)
c.4813G= (p.Glu1605=)
c.4540G= (p.Glu1514=)
c.3991G= (p.Glu1331=)
c.5905G= (p.Glu1969=)
c.5629G= (p.Glu1877=)
9g.115040977C>GCA374629146TNCc.548G>C
c.3445G>C (p.Glu1149Gln)
c.4267G>C (p.Glu1423Gln)
c.2299G>C (p.Glu767Gln)
c.955G>C (p.Glu319Gln)
c.4314G>C
c.5356G>C (p.Glu1786Gln)
c.4810G>C (p.Glu1604Gln)
c.4537G>C (p.Glu1513Gln)
n.483G>C
n.270G>C
c.1043G>C
c.5083G>C (p.Glu1695Gln)
c.4264G>C (p.Glu1422Gln)
c.3718G>C (p.Glu1240Gln)
c.5632G>C (p.Glu1878Gln)
c.5359G>C (p.Glu1787Gln)
c.4813G>C (p.Glu1605Gln)
c.4540G>C (p.Glu1514Gln)
c.3991G>C (p.Glu1331Gln)
c.5905G>C (p.Glu1969Gln)
c.5629G>C (p.Glu1877Gln)
 dbSNP gnomAD v4
9g.115040977C>TCA374629148TNCc.548G>A
c.3445G>A (p.Glu1149Lys)
c.4267G>A (p.Glu1423Lys)
c.2299G>A (p.Glu767Lys)
c.955G>A (p.Glu319Lys)
c.4314G>A
c.5356G>A (p.Glu1786Lys)
c.4810G>A (p.Glu1604Lys)
c.4537G>A (p.Glu1513Lys)
n.483G>A
n.270G>A
c.1043G>A
c.5083G>A (p.Glu1695Lys)
c.4264G>A (p.Glu1422Lys)
c.3718G>A (p.Glu1240Lys)
c.5632G>A (p.Glu1878Lys)
c.5359G>A (p.Glu1787Lys)
c.4813G>A (p.Glu1605Lys)
c.4540G>A (p.Glu1514Lys)
c.3991G>A (p.Glu1331Lys)
c.5905G>A (p.Glu1969Lys)
c.5629G>A (p.Glu1877Lys)
9g.115040978A=CA1874116325TNCc.547T=
c.3444T= (p.Phe1148=)
c.4266T= (p.Phe1422=)
c.2298T= (p.Phe766=)
c.954T= (p.Phe318=)
c.4313T=
c.5355T= (p.Phe1785=)
c.4809T= (p.Phe1603=)
c.4536T= (p.Phe1512=)
n.482T=
n.269T=
c.1042T=
c.5082T= (p.Phe1694=)
c.4263T= (p.Phe1421=)
c.3717T= (p.Phe1239=)
c.5631T= (p.Phe1877=)
c.5358T= (p.Phe1786=)
c.4812T= (p.Phe1604=)
c.4539T= (p.Phe1513=)
c.3990T= (p.Phe1330=)
c.5904T= (p.Phe1968=)
c.5628T= (p.Phe1876=)
9g.115040978A>CCA5207680TNCc.547T>G
c.3444T>G (p.Phe1148Leu)
c.4266T>G (p.Phe1422Leu)
c.2298T>G (p.Phe766Leu)
c.954T>G (p.Phe318Leu)
c.4313T>G
c.5355T>G (p.Phe1785Leu)
c.4809T>G (p.Phe1603Leu)
c.4536T>G (p.Phe1512Leu)
n.482T>G
n.269T>G
c.1042T>G
c.5082T>G (p.Phe1694Leu)
c.4263T>G (p.Phe1421Leu)
c.3717T>G (p.Phe1239Leu)
c.5631T>G (p.Phe1877Leu)
c.5358T>G (p.Phe1786Leu)
c.4812T>G (p.Phe1604Leu)
c.4539T>G (p.Phe1513Leu)
c.3990T>G (p.Phe1330Leu)
c.5904T>G (p.Phe1968Leu)
c.5628T>G (p.Phe1876Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040978A>GCA466790972TNCc.547T>C
c.3444T>C (p.Phe1148=)
c.4266T>C (p.Phe1422=)
c.2298T>C (p.Phe766=)
c.954T>C (p.Phe318=)
c.4313T>C
c.5355T>C (p.Phe1785=)
c.4809T>C (p.Phe1603=)
c.4536T>C (p.Phe1512=)
n.482T>C
n.269T>C
c.1042T>C
c.5082T>C (p.Phe1694=)
c.4263T>C (p.Phe1421=)
c.3717T>C (p.Phe1239=)
c.5631T>C (p.Phe1877=)
c.5358T>C (p.Phe1786=)
c.4812T>C (p.Phe1604=)
c.4539T>C (p.Phe1513=)
c.3990T>C (p.Phe1330=)
c.5904T>C (p.Phe1968=)
c.5628T>C (p.Phe1876=)
9g.115040978A>TCA374629151TNCc.547T>A
c.3444T>A (p.Phe1148Leu)
c.4266T>A (p.Phe1422Leu)
c.2298T>A (p.Phe766Leu)
c.954T>A (p.Phe318Leu)
c.4313T>A
c.5355T>A (p.Phe1785Leu)
c.4809T>A (p.Phe1603Leu)
c.4536T>A (p.Phe1512Leu)
n.482T>A
n.269T>A
c.1042T>A
c.5082T>A (p.Phe1694Leu)
c.4263T>A (p.Phe1421Leu)
c.3717T>A (p.Phe1239Leu)
c.5631T>A (p.Phe1877Leu)
c.5358T>A (p.Phe1786Leu)
c.4812T>A (p.Phe1604Leu)
c.4539T>A (p.Phe1513Leu)
c.3990T>A (p.Phe1330Leu)
c.5904T>A (p.Phe1968Leu)
c.5628T>A (p.Phe1876Leu)
9g.115040979A>CCA374629156TNCc.546T>G
c.3443T>G (p.Phe1148Cys)
c.4265T>G (p.Phe1422Cys)
c.2297T>G (p.Phe766Cys)
c.953T>G (p.Phe318Cys)
c.4312T>G
c.5354T>G (p.Phe1785Cys)
c.4808T>G (p.Phe1603Cys)
c.4535T>G (p.Phe1512Cys)
n.481T>G
n.268T>G
c.1041T>G
c.5081T>G (p.Phe1694Cys)
c.4262T>G (p.Phe1421Cys)
c.3716T>G (p.Phe1239Cys)
c.5630T>G (p.Phe1877Cys)
c.5357T>G (p.Phe1786Cys)
c.4811T>G (p.Phe1604Cys)
c.4538T>G (p.Phe1513Cys)
c.3989T>G (p.Phe1330Cys)
c.5903T>G (p.Phe1968Cys)
c.5627T>G (p.Phe1876Cys)
9g.115040979A>GCA374629158TNCc.546T>C
c.3443T>C (p.Phe1148Ser)
c.4265T>C (p.Phe1422Ser)
c.2297T>C (p.Phe766Ser)
c.953T>C (p.Phe318Ser)
c.4312T>C
c.5354T>C (p.Phe1785Ser)
c.4808T>C (p.Phe1603Ser)
c.4535T>C (p.Phe1512Ser)
n.481T>C
n.268T>C
c.1041T>C
c.5081T>C (p.Phe1694Ser)
c.4262T>C (p.Phe1421Ser)
c.3716T>C (p.Phe1239Ser)
c.5630T>C (p.Phe1877Ser)
c.5357T>C (p.Phe1786Ser)
c.4811T>C (p.Phe1604Ser)
c.4538T>C (p.Phe1513Ser)
c.3989T>C (p.Phe1330Ser)
c.5903T>C (p.Phe1968Ser)
c.5627T>C (p.Phe1876Ser)
9g.115040979A>TCA374629154TNCc.546T>A
c.3443T>A (p.Phe1148Tyr)
c.4265T>A (p.Phe1422Tyr)
c.2297T>A (p.Phe766Tyr)
c.953T>A (p.Phe318Tyr)
c.4312T>A
c.5354T>A (p.Phe1785Tyr)
c.4808T>A (p.Phe1603Tyr)
c.4535T>A (p.Phe1512Tyr)
n.481T>A
n.268T>A
c.1041T>A
c.5081T>A (p.Phe1694Tyr)
c.4262T>A (p.Phe1421Tyr)
c.3716T>A (p.Phe1239Tyr)
c.5630T>A (p.Phe1877Tyr)
c.5357T>A (p.Phe1786Tyr)
c.4811T>A (p.Phe1604Tyr)
c.4538T>A (p.Phe1513Tyr)
c.3989T>A (p.Phe1330Tyr)
c.5903T>A (p.Phe1968Tyr)
c.5627T>A (p.Phe1876Tyr)
9g.115040980A>CCA374629160TNCc.545T>G
c.3442T>G (p.Phe1148Val)
c.4264T>G (p.Phe1422Val)
c.2296T>G (p.Phe766Val)
c.952T>G (p.Phe318Val)
c.4311T>G
c.5353T>G (p.Phe1785Val)
c.4807T>G (p.Phe1603Val)
c.4534T>G (p.Phe1512Val)
n.480T>G
n.267T>G
c.1040T>G
c.5080T>G (p.Phe1694Val)
c.4261T>G (p.Phe1421Val)
c.3715T>G (p.Phe1239Val)
c.5629T>G (p.Phe1877Val)
c.5356T>G (p.Phe1786Val)
c.4810T>G (p.Phe1604Val)
c.4537T>G (p.Phe1513Val)
c.3988T>G (p.Phe1330Val)
c.5902T>G (p.Phe1968Val)
c.5626T>G (p.Phe1876Val)
9g.115040980A>GCA374629162TNCc.545T>C
c.3442T>C (p.Phe1148Leu)
c.4264T>C (p.Phe1422Leu)
c.2296T>C (p.Phe766Leu)
c.952T>C (p.Phe318Leu)
c.4311T>C
c.5353T>C (p.Phe1785Leu)
c.4807T>C (p.Phe1603Leu)
c.4534T>C (p.Phe1512Leu)
n.480T>C
n.267T>C
c.1040T>C
c.5080T>C (p.Phe1694Leu)
c.4261T>C (p.Phe1421Leu)
c.3715T>C (p.Phe1239Leu)
c.5629T>C (p.Phe1877Leu)
c.5356T>C (p.Phe1786Leu)
c.4810T>C (p.Phe1604Leu)
c.4537T>C (p.Phe1513Leu)
c.3988T>C (p.Phe1330Leu)
c.5902T>C (p.Phe1968Leu)
c.5626T>C (p.Phe1876Leu)
9g.115040980A>TCA374629164TNCc.545T>A
c.3442T>A (p.Phe1148Ile)
c.4264T>A (p.Phe1422Ile)
c.2296T>A (p.Phe766Ile)
c.952T>A (p.Phe318Ile)
c.4311T>A
c.5353T>A (p.Phe1785Ile)
c.4807T>A (p.Phe1603Ile)
c.4534T>A (p.Phe1512Ile)
n.480T>A
n.267T>A
c.1040T>A
c.5080T>A (p.Phe1694Ile)
c.4261T>A (p.Phe1421Ile)
c.3715T>A (p.Phe1239Ile)
c.5629T>A (p.Phe1877Ile)
c.5356T>A (p.Phe1786Ile)
c.4810T>A (p.Phe1604Ile)
c.4537T>A (p.Phe1513Ile)
c.3988T>A (p.Phe1330Ile)
c.5902T>A (p.Phe1968Ile)
c.5626T>A (p.Phe1876Ile)
 gnomAD v4
9g.115040981G>ACA466790973TNCc.544C>T
c.3441C>T (p.Gly1147=)
c.4263C>T (p.Gly1421=)
c.2295C>T (p.Gly765=)
c.951C>T (p.Gly317=)
c.4310C>T
c.5352C>T (p.Gly1784=)
c.4806C>T (p.Gly1602=)
c.4533C>T (p.Gly1511=)
n.479C>T
n.266C>T
c.1039C>T
c.5079C>T (p.Gly1693=)
c.4260C>T (p.Gly1420=)
c.3714C>T (p.Gly1238=)
c.5628C>T (p.Gly1876=)
c.5355C>T (p.Gly1785=)
c.4809C>T (p.Gly1603=)
c.4536C>T (p.Gly1512=)
c.3987C>T (p.Gly1329=)
c.5901C>T (p.Gly1967=)
c.5625C>T (p.Gly1875=)
9g.115040981G>CCA466790974TNCc.544C>G
c.3441C>G (p.Gly1147=)
c.4263C>G (p.Gly1421=)
c.2295C>G (p.Gly765=)
c.951C>G (p.Gly317=)
c.4310C>G
c.5352C>G (p.Gly1784=)
c.4806C>G (p.Gly1602=)
c.4533C>G (p.Gly1511=)
n.479C>G
n.266C>G
c.1039C>G
c.5079C>G (p.Gly1693=)
c.4260C>G (p.Gly1420=)
c.3714C>G (p.Gly1238=)
c.5628C>G (p.Gly1876=)
c.5355C>G (p.Gly1785=)
c.4809C>G (p.Gly1603=)
c.4536C>G (p.Gly1512=)
c.3987C>G (p.Gly1329=)
c.5901C>G (p.Gly1967=)
c.5625C>G (p.Gly1875=)
9g.115040981G=CA1874116326TNCc.544C=
c.3441C= (p.Gly1147=)
c.4263C= (p.Gly1421=)
c.2295C= (p.Gly765=)
c.951C= (p.Gly317=)
c.4310C=
c.5352C= (p.Gly1784=)
c.4806C= (p.Gly1602=)
c.4533C= (p.Gly1511=)
n.479C=
n.266C=
c.1039C=
c.5079C= (p.Gly1693=)
c.4260C= (p.Gly1420=)
c.3714C= (p.Gly1238=)
c.5628C= (p.Gly1876=)
c.5355C= (p.Gly1785=)
c.4809C= (p.Gly1603=)
c.4536C= (p.Gly1512=)
c.3987C= (p.Gly1329=)
c.5901C= (p.Gly1967=)
c.5625C= (p.Gly1875=)
9g.115040981G>TCA5207681TNCc.544C>A
c.3441C>A (p.Gly1147=)
c.4263C>A (p.Gly1421=)
c.2295C>A (p.Gly765=)
c.951C>A (p.Gly317=)
c.4310C>A
c.5352C>A (p.Gly1784=)
c.4806C>A (p.Gly1602=)
c.4533C>A (p.Gly1511=)
n.479C>A
n.266C>A
c.1039C>A
c.5079C>A (p.Gly1693=)
c.4260C>A (p.Gly1420=)
c.3714C>A (p.Gly1238=)
c.5628C>A (p.Gly1876=)
c.5355C>A (p.Gly1785=)
c.4809C>A (p.Gly1603=)
c.4536C>A (p.Gly1512=)
c.3987C>A (p.Gly1329=)
c.5901C>A (p.Gly1967=)
c.5625C>A (p.Gly1875=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040982C>ACA374629170TNCc.543G>T
c.3440G>T (p.Gly1147Val)
c.4262G>T (p.Gly1421Val)
c.2294G>T (p.Gly765Val)
c.950G>T (p.Gly317Val)
c.4309G>T
c.5351G>T (p.Gly1784Val)
c.4805G>T (p.Gly1602Val)
c.4532G>T (p.Gly1511Val)
n.478G>T
n.265G>T
c.1038G>T
c.5078G>T (p.Gly1693Val)
c.4259G>T (p.Gly1420Val)
c.3713G>T (p.Gly1238Val)
c.5627G>T (p.Gly1876Val)
c.5354G>T (p.Gly1785Val)
c.4808G>T (p.Gly1603Val)
c.4535G>T (p.Gly1512Val)
c.3986G>T (p.Gly1329Val)
c.5900G>T (p.Gly1967Val)
c.5624G>T (p.Gly1875Val)
 dbSNP
9g.115040982C=CA1874116327TNCc.543G=
c.3440G= (p.Gly1147=)
c.4262G= (p.Gly1421=)
c.2294G= (p.Gly765=)
c.950G= (p.Gly317=)
c.4309G=
c.5351G= (p.Gly1784=)
c.4805G= (p.Gly1602=)
c.4532G= (p.Gly1511=)
n.478G=
n.265G=
c.1038G=
c.5078G= (p.Gly1693=)
c.4259G= (p.Gly1420=)
c.3713G= (p.Gly1238=)
c.5627G= (p.Gly1876=)
c.5354G= (p.Gly1785=)
c.4808G= (p.Gly1603=)
c.4535G= (p.Gly1512=)
c.3986G= (p.Gly1329=)
c.5900G= (p.Gly1967=)
c.5624G= (p.Gly1875=)
9g.115040982C>GCA374629168TNCc.543G>C
c.3440G>C (p.Gly1147Ala)
c.4262G>C (p.Gly1421Ala)
c.2294G>C (p.Gly765Ala)
c.950G>C (p.Gly317Ala)
c.4309G>C
c.5351G>C (p.Gly1784Ala)
c.4805G>C (p.Gly1602Ala)
c.4532G>C (p.Gly1511Ala)
n.478G>C
n.265G>C
c.1038G>C
c.5078G>C (p.Gly1693Ala)
c.4259G>C (p.Gly1420Ala)
c.3713G>C (p.Gly1238Ala)
c.5627G>C (p.Gly1876Ala)
c.5354G>C (p.Gly1785Ala)
c.4808G>C (p.Gly1603Ala)
c.4535G>C (p.Gly1512Ala)
c.3986G>C (p.Gly1329Ala)
c.5900G>C (p.Gly1967Ala)
c.5624G>C (p.Gly1875Ala)
9g.115040982C>TCA5207682TNCc.543G>A
c.3440G>A (p.Gly1147Asp)
c.4262G>A (p.Gly1421Asp)
c.2294G>A (p.Gly765Asp)
c.950G>A (p.Gly317Asp)
c.4309G>A
c.5351G>A (p.Gly1784Asp)
c.4805G>A (p.Gly1602Asp)
c.4532G>A (p.Gly1511Asp)
n.478G>A
n.265G>A
c.1038G>A
c.5078G>A (p.Gly1693Asp)
c.4259G>A (p.Gly1420Asp)
c.3713G>A (p.Gly1238Asp)
c.5627G>A (p.Gly1876Asp)
c.5354G>A (p.Gly1785Asp)
c.4808G>A (p.Gly1603Asp)
c.4535G>A (p.Gly1512Asp)
c.3986G>A (p.Gly1329Asp)
c.5900G>A (p.Gly1967Asp)
c.5624G>A (p.Gly1875Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040983C>ACA374629172TNCc.542G>T
c.3439G>T (p.Gly1147Cys)
c.4261G>T (p.Gly1421Cys)
c.2293G>T (p.Gly765Cys)
c.949G>T (p.Gly317Cys)
c.4308G>T
c.5350G>T (p.Gly1784Cys)
c.4804G>T (p.Gly1602Cys)
c.4531G>T (p.Gly1511Cys)
n.477G>T
n.264G>T
c.1037G>T
c.5077G>T (p.Gly1693Cys)
c.4258G>T (p.Gly1420Cys)
c.3712G>T (p.Gly1238Cys)
c.5626G>T (p.Gly1876Cys)
c.5353G>T (p.Gly1785Cys)
c.4807G>T (p.Gly1603Cys)
c.4534G>T (p.Gly1512Cys)
c.3985G>T (p.Gly1329Cys)
c.5899G>T (p.Gly1967Cys)
c.5623G>T (p.Gly1875Cys)
9g.115040983C>GCA374629174TNCc.542G>C
c.3439G>C (p.Gly1147Arg)
c.4261G>C (p.Gly1421Arg)
c.2293G>C (p.Gly765Arg)
c.949G>C (p.Gly317Arg)
c.4308G>C
c.5350G>C (p.Gly1784Arg)
c.4804G>C (p.Gly1602Arg)
c.4531G>C (p.Gly1511Arg)
n.477G>C
n.264G>C
c.1037G>C
c.5077G>C (p.Gly1693Arg)
c.4258G>C (p.Gly1420Arg)
c.3712G>C (p.Gly1238Arg)
c.5626G>C (p.Gly1876Arg)
c.5353G>C (p.Gly1785Arg)
c.4807G>C (p.Gly1603Arg)
c.4534G>C (p.Gly1512Arg)
c.3985G>C (p.Gly1329Arg)
c.5899G>C (p.Gly1967Arg)
c.5623G>C (p.Gly1875Arg)
9g.115040983C>TCA374629176TNCc.542G>A
c.3439G>A (p.Gly1147Ser)
c.4261G>A (p.Gly1421Ser)
c.2293G>A (p.Gly765Ser)
c.949G>A (p.Gly317Ser)
c.4308G>A
c.5350G>A (p.Gly1784Ser)
c.4804G>A (p.Gly1602Ser)
c.4531G>A (p.Gly1511Ser)
n.477G>A
n.264G>A
c.1037G>A
c.5077G>A (p.Gly1693Ser)
c.4258G>A (p.Gly1420Ser)
c.3712G>A (p.Gly1238Ser)
c.5626G>A (p.Gly1876Ser)
c.5353G>A (p.Gly1785Ser)
c.4807G>A (p.Gly1603Ser)
c.4534G>A (p.Gly1512Ser)
c.3985G>A (p.Gly1329Ser)
c.5899G>A (p.Gly1967Ser)
c.5623G>A (p.Gly1875Ser)
 dbSNP COSMIC
9g.115040984C>ACA374629178TNCc.541G>T
c.3438G>T (p.Lys1146Asn)
c.4260G>T (p.Lys1420Asn)
c.2292G>T (p.Lys764Asn)
c.948G>T (p.Lys316Asn)
c.4307G>T
c.5349G>T (p.Lys1783Asn)
c.4803G>T (p.Lys1601Asn)
c.4530G>T (p.Lys1510Asn)
n.476G>T
n.263G>T
c.1036G>T
c.5076G>T (p.Lys1692Asn)
c.4257G>T (p.Lys1419Asn)
c.3711G>T (p.Lys1237Asn)
c.5625G>T (p.Lys1875Asn)
c.5352G>T (p.Lys1784Asn)
c.4806G>T (p.Lys1602Asn)
c.4533G>T (p.Lys1511Asn)
c.3984G>T (p.Lys1328Asn)
c.5898G>T (p.Lys1966Asn)
c.5622G>T (p.Lys1874Asn)
 gnomAD v4
9g.115040984C=CA1874116328TNCc.541G=
c.3438G= (p.Lys1146=)
c.4260G= (p.Lys1420=)
c.2292G= (p.Lys764=)
c.948G= (p.Lys316=)
c.4307G=
c.5349G= (p.Lys1783=)
c.4803G= (p.Lys1601=)
c.4530G= (p.Lys1510=)
n.476G=
n.263G=
c.1036G=
c.5076G= (p.Lys1692=)
c.4257G= (p.Lys1419=)
c.3711G= (p.Lys1237=)
c.5625G= (p.Lys1875=)
c.5352G= (p.Lys1784=)
c.4806G= (p.Lys1602=)
c.4533G= (p.Lys1511=)
c.3984G= (p.Lys1328=)
c.5898G= (p.Lys1966=)
c.5622G= (p.Lys1874=)
9g.115040984C>GCA374629180TNCc.541G>C
c.3438G>C (p.Lys1146Asn)
c.4260G>C (p.Lys1420Asn)
c.2292G>C (p.Lys764Asn)
c.948G>C (p.Lys316Asn)
c.4307G>C
c.5349G>C (p.Lys1783Asn)
c.4803G>C (p.Lys1601Asn)
c.4530G>C (p.Lys1510Asn)
n.476G>C
n.263G>C
c.1036G>C
c.5076G>C (p.Lys1692Asn)
c.4257G>C (p.Lys1419Asn)
c.3711G>C (p.Lys1237Asn)
c.5625G>C (p.Lys1875Asn)
c.5352G>C (p.Lys1784Asn)
c.4806G>C (p.Lys1602Asn)
c.4533G>C (p.Lys1511Asn)
c.3984G>C (p.Lys1328Asn)
c.5898G>C (p.Lys1966Asn)
c.5622G>C (p.Lys1874Asn)
9g.115040984C>TCA198685252TNCc.541G>A
c.3438G>A (p.Lys1146=)
c.4260G>A (p.Lys1420=)
c.2292G>A (p.Lys764=)
c.948G>A (p.Lys316=)
c.4307G>A
c.5349G>A (p.Lys1783=)
c.4803G>A (p.Lys1601=)
c.4530G>A (p.Lys1510=)
n.476G>A
n.263G>A
c.1036G>A
c.5076G>A (p.Lys1692=)
c.4257G>A (p.Lys1419=)
c.3711G>A (p.Lys1237=)
c.5625G>A (p.Lys1875=)
c.5352G>A (p.Lys1784=)
c.4806G>A (p.Lys1602=)
c.4533G>A (p.Lys1511=)
c.3984G>A (p.Lys1328=)
c.5898G>A (p.Lys1966=)
c.5622G>A (p.Lys1874=)
 dbSNP gnomAD v3 gnomAD v4
9g.115040985T>ACA374629183TNCc.540A>T
c.3437A>T (p.Lys1146Met)
c.4259A>T (p.Lys1420Met)
c.2291A>T (p.Lys764Met)
c.947A>T (p.Lys316Met)
c.4306A>T
c.5348A>T (p.Lys1783Met)
c.4802A>T (p.Lys1601Met)
c.4529A>T (p.Lys1510Met)
n.475A>T
n.262A>T
c.1035A>T
c.5075A>T (p.Lys1692Met)
c.4256A>T (p.Lys1419Met)
c.3710A>T (p.Lys1237Met)
c.5624A>T (p.Lys1875Met)
c.5351A>T (p.Lys1784Met)
c.4805A>T (p.Lys1602Met)
c.4532A>T (p.Lys1511Met)
c.3983A>T (p.Lys1328Met)
c.5897A>T (p.Lys1966Met)
c.5621A>T (p.Lys1874Met)
9g.115040985T>CCA374629186TNCc.540A>G
c.3437A>G (p.Lys1146Arg)
c.4259A>G (p.Lys1420Arg)
c.2291A>G (p.Lys764Arg)
c.947A>G (p.Lys316Arg)
c.4306A>G
c.5348A>G (p.Lys1783Arg)
c.4802A>G (p.Lys1601Arg)
c.4529A>G (p.Lys1510Arg)
n.475A>G
n.262A>G
c.1035A>G
c.5075A>G (p.Lys1692Arg)
c.4256A>G (p.Lys1419Arg)
c.3710A>G (p.Lys1237Arg)
c.5624A>G (p.Lys1875Arg)
c.5351A>G (p.Lys1784Arg)
c.4805A>G (p.Lys1602Arg)
c.4532A>G (p.Lys1511Arg)
c.3983A>G (p.Lys1328Arg)
c.5897A>G (p.Lys1966Arg)
c.5621A>G (p.Lys1874Arg)
9g.115040985T>GCA374629184TNCc.540A>C
c.3437A>C (p.Lys1146Thr)
c.4259A>C (p.Lys1420Thr)
c.2291A>C (p.Lys764Thr)
c.947A>C (p.Lys316Thr)
c.4306A>C
c.5348A>C (p.Lys1783Thr)
c.4802A>C (p.Lys1601Thr)
c.4529A>C (p.Lys1510Thr)
n.475A>C
n.262A>C
c.1035A>C
c.5075A>C (p.Lys1692Thr)
c.4256A>C (p.Lys1419Thr)
c.3710A>C (p.Lys1237Thr)
c.5624A>C (p.Lys1875Thr)
c.5351A>C (p.Lys1784Thr)
c.4805A>C (p.Lys1602Thr)
c.4532A>C (p.Lys1511Thr)
c.3983A>C (p.Lys1328Thr)
c.5897A>C (p.Lys1966Thr)
c.5621A>C (p.Lys1874Thr)
9g.115040986T>ACA374629188TNCc.539A>T
c.3436A>T (p.Lys1146Ter)
c.4258A>T (p.Lys1420Ter)
c.2290A>T (p.Lys764Ter)
c.946A>T (p.Lys316Ter)
c.4305A>T
c.5347A>T (p.Lys1783Ter)
c.4801A>T (p.Lys1601Ter)
c.4528A>T (p.Lys1510Ter)
n.474A>T
n.261A>T
c.1034A>T
c.5074A>T (p.Lys1692Ter)
c.4255A>T (p.Lys1419Ter)
c.3709A>T (p.Lys1237Ter)
c.5623A>T (p.Lys1875Ter)
c.5350A>T (p.Lys1784Ter)
c.4804A>T (p.Lys1602Ter)
c.4531A>T (p.Lys1511Ter)
c.3982A>T (p.Lys1328Ter)
c.5896A>T (p.Lys1966Ter)
c.5620A>T (p.Lys1874Ter)
9g.115040986T>CCA374629190TNCc.539A>G
c.3436A>G (p.Lys1146Glu)
c.4258A>G (p.Lys1420Glu)
c.2290A>G (p.Lys764Glu)
c.946A>G (p.Lys316Glu)
c.4305A>G
c.5347A>G (p.Lys1783Glu)
c.4801A>G (p.Lys1601Glu)
c.4528A>G (p.Lys1510Glu)
n.474A>G
n.261A>G
c.1034A>G
c.5074A>G (p.Lys1692Glu)
c.4255A>G (p.Lys1419Glu)
c.3709A>G (p.Lys1237Glu)
c.5623A>G (p.Lys1875Glu)
c.5350A>G (p.Lys1784Glu)
c.4804A>G (p.Lys1602Glu)
c.4531A>G (p.Lys1511Glu)
c.3982A>G (p.Lys1328Glu)
c.5896A>G (p.Lys1966Glu)
c.5620A>G (p.Lys1874Glu)
9g.115040986T>GCA374629192TNCc.539A>C
c.3436A>C (p.Lys1146Gln)
c.4258A>C (p.Lys1420Gln)
c.2290A>C (p.Lys764Gln)
c.946A>C (p.Lys316Gln)
c.4305A>C
c.5347A>C (p.Lys1783Gln)
c.4801A>C (p.Lys1601Gln)
c.4528A>C (p.Lys1510Gln)
n.474A>C
n.261A>C
c.1034A>C
c.5074A>C (p.Lys1692Gln)
c.4255A>C (p.Lys1419Gln)
c.3709A>C (p.Lys1237Gln)
c.5623A>C (p.Lys1875Gln)
c.5350A>C (p.Lys1784Gln)
c.4804A>C (p.Lys1602Gln)
c.4531A>C (p.Lys1511Gln)
c.3982A>C (p.Lys1328Gln)
c.5896A>C (p.Lys1966Gln)
c.5620A>C (p.Lys1874Gln)
9g.115040987C>ACA5207683TNCc.538G>T
c.3435G>T (p.Met1145Ile)
c.4257G>T (p.Met1419Ile)
c.2289G>T (p.Met763Ile)
c.945G>T (p.Met315Ile)
c.4304G>T
c.5346G>T (p.Met1782Ile)
c.4800G>T (p.Met1600Ile)
c.4527G>T (p.Met1509Ile)
n.473G>T
n.260G>T
c.1033G>T
c.5073G>T (p.Met1691Ile)
c.4254G>T (p.Met1418Ile)
c.3708G>T (p.Met1236Ile)
c.5622G>T (p.Met1874Ile)
c.5349G>T (p.Met1783Ile)
c.4803G>T (p.Met1601Ile)
c.4530G>T (p.Met1510Ile)
c.3981G>T (p.Met1327Ile)
c.5895G>T (p.Met1965Ile)
c.5619G>T (p.Met1873Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040987C=CA1874116329TNCc.538G=
c.3435G= (p.Met1145=)
c.4257G= (p.Met1419=)
c.2289G= (p.Met763=)
c.945G= (p.Met315=)
c.4304G=
c.5346G= (p.Met1782=)
c.4800G= (p.Met1600=)
c.4527G= (p.Met1509=)
n.473G=
n.260G=
c.1033G=
c.5073G= (p.Met1691=)
c.4254G= (p.Met1418=)
c.3708G= (p.Met1236=)
c.5622G= (p.Met1874=)
c.5349G= (p.Met1783=)
c.4803G= (p.Met1601=)
c.4530G= (p.Met1510=)
c.3981G= (p.Met1327=)
c.5895G= (p.Met1965=)
c.5619G= (p.Met1873=)
9g.115040987C>GCA374629194TNCc.538G>C
c.3435G>C (p.Met1145Ile)
c.4257G>C (p.Met1419Ile)
c.2289G>C (p.Met763Ile)
c.945G>C (p.Met315Ile)
c.4304G>C
c.5346G>C (p.Met1782Ile)
c.4800G>C (p.Met1600Ile)
c.4527G>C (p.Met1509Ile)
n.473G>C
n.260G>C
c.1033G>C
c.5073G>C (p.Met1691Ile)
c.4254G>C (p.Met1418Ile)
c.3708G>C (p.Met1236Ile)
c.5622G>C (p.Met1874Ile)
c.5349G>C (p.Met1783Ile)
c.4803G>C (p.Met1601Ile)
c.4530G>C (p.Met1510Ile)
c.3981G>C (p.Met1327Ile)
c.5895G>C (p.Met1965Ile)
c.5619G>C (p.Met1873Ile)
9g.115040987C>TCA374629195TNCc.538G>A
c.3435G>A (p.Met1145Ile)
c.4257G>A (p.Met1419Ile)
c.2289G>A (p.Met763Ile)
c.945G>A (p.Met315Ile)
c.4304G>A
c.5346G>A (p.Met1782Ile)
c.4800G>A (p.Met1600Ile)
c.4527G>A (p.Met1509Ile)
n.473G>A
n.260G>A
c.1033G>A
c.5073G>A (p.Met1691Ile)
c.4254G>A (p.Met1418Ile)
c.3708G>A (p.Met1236Ile)
c.5622G>A (p.Met1874Ile)
c.5349G>A (p.Met1783Ile)
c.4803G>A (p.Met1601Ile)
c.4530G>A (p.Met1510Ile)
c.3981G>A (p.Met1327Ile)
c.5895G>A (p.Met1965Ile)
c.5619G>A (p.Met1873Ile)
9g.115040988A>CCA374629198TNCc.537T>G
c.3434T>G (p.Met1145Arg)
c.4256T>G (p.Met1419Arg)
c.2288T>G (p.Met763Arg)
c.944T>G (p.Met315Arg)
c.4303T>G
c.5345T>G (p.Met1782Arg)
c.4799T>G (p.Met1600Arg)
c.4526T>G (p.Met1509Arg)
n.472T>G
n.259T>G
c.1032T>G
c.5072T>G (p.Met1691Arg)
c.4253T>G (p.Met1418Arg)
c.3707T>G (p.Met1236Arg)
c.5621T>G (p.Met1874Arg)
c.5348T>G (p.Met1783Arg)
c.4802T>G (p.Met1601Arg)
c.4529T>G (p.Met1510Arg)
c.3980T>G (p.Met1327Arg)
c.5894T>G (p.Met1965Arg)
c.5618T>G (p.Met1873Arg)
9g.115040988A>GCA374629200TNCc.537T>C
c.3434T>C (p.Met1145Thr)
c.4256T>C (p.Met1419Thr)
c.2288T>C (p.Met763Thr)
c.944T>C (p.Met315Thr)
c.4303T>C
c.5345T>C (p.Met1782Thr)
c.4799T>C (p.Met1600Thr)
c.4526T>C (p.Met1509Thr)
n.472T>C
n.259T>C
c.1032T>C
c.5072T>C (p.Met1691Thr)
c.4253T>C (p.Met1418Thr)
c.3707T>C (p.Met1236Thr)
c.5621T>C (p.Met1874Thr)
c.5348T>C (p.Met1783Thr)
c.4802T>C (p.Met1601Thr)
c.4529T>C (p.Met1510Thr)
c.3980T>C (p.Met1327Thr)
c.5894T>C (p.Met1965Thr)
c.5618T>C (p.Met1873Thr)
 COSMIC
9g.115040988A>TCA374629202TNCc.537T>A
c.3434T>A (p.Met1145Lys)
c.4256T>A (p.Met1419Lys)
c.2288T>A (p.Met763Lys)
c.944T>A (p.Met315Lys)
c.4303T>A
c.5345T>A (p.Met1782Lys)
c.4799T>A (p.Met1600Lys)
c.4526T>A (p.Met1509Lys)
n.472T>A
n.259T>A
c.1032T>A
c.5072T>A (p.Met1691Lys)
c.4253T>A (p.Met1418Lys)
c.3707T>A (p.Met1236Lys)
c.5621T>A (p.Met1874Lys)
c.5348T>A (p.Met1783Lys)
c.4802T>A (p.Met1601Lys)
c.4529T>A (p.Met1510Lys)
c.3980T>A (p.Met1327Lys)
c.5894T>A (p.Met1965Lys)
c.5618T>A (p.Met1873Lys)
9g.115040989T>ACA374629204TNCc.536A>T
c.3433A>T (p.Met1145Leu)
c.4255A>T (p.Met1419Leu)
c.2287A>T (p.Met763Leu)
c.943A>T (p.Met315Leu)
c.4302A>T
c.5344A>T (p.Met1782Leu)
c.4798A>T (p.Met1600Leu)
c.4525A>T (p.Met1509Leu)
n.471A>T
n.258A>T
c.1031A>T
c.5071A>T (p.Met1691Leu)
c.4252A>T (p.Met1418Leu)
c.3706A>T (p.Met1236Leu)
c.5620A>T (p.Met1874Leu)
c.5347A>T (p.Met1783Leu)
c.4801A>T (p.Met1601Leu)
c.4528A>T (p.Met1510Leu)
c.3979A>T (p.Met1327Leu)
c.5893A>T (p.Met1965Leu)
c.5617A>T (p.Met1873Leu)
9g.115040989T>CCA374629206TNCc.536A>G
c.3433A>G (p.Met1145Val)
c.4255A>G (p.Met1419Val)
c.2287A>G (p.Met763Val)
c.943A>G (p.Met315Val)
c.4302A>G
c.5344A>G (p.Met1782Val)
c.4798A>G (p.Met1600Val)
c.4525A>G (p.Met1509Val)
n.471A>G
n.258A>G
c.1031A>G
c.5071A>G (p.Met1691Val)
c.4252A>G (p.Met1418Val)
c.3706A>G (p.Met1236Val)
c.5620A>G (p.Met1874Val)
c.5347A>G (p.Met1783Val)
c.4801A>G (p.Met1601Val)
c.4528A>G (p.Met1510Val)
c.3979A>G (p.Met1327Val)
c.5893A>G (p.Met1965Val)
c.5617A>G (p.Met1873Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.115040989T>GCA374629208TNCc.536A>C
c.3433A>C (p.Met1145Leu)
c.4255A>C (p.Met1419Leu)
c.2287A>C (p.Met763Leu)
c.943A>C (p.Met315Leu)
c.4302A>C
c.5344A>C (p.Met1782Leu)
c.4798A>C (p.Met1600Leu)
c.4525A>C (p.Met1509Leu)
n.471A>C
n.258A>C
c.1031A>C
c.5071A>C (p.Met1691Leu)
c.4252A>C (p.Met1418Leu)
c.3706A>C (p.Met1236Leu)
c.5620A>C (p.Met1874Leu)
c.5347A>C (p.Met1783Leu)
c.4801A>C (p.Met1601Leu)
c.4528A>C (p.Met1510Leu)
c.3979A>C (p.Met1327Leu)
c.5893A>C (p.Met1965Leu)
c.5617A>C (p.Met1873Leu)
9g.115040989T=CA1874116331TNCc.536A=
c.3433A= (p.Met1145=)
c.4255A= (p.Met1419=)
c.2287A= (p.Met763=)
c.943A= (p.Met315=)
c.4302A=
c.5344A= (p.Met1782=)
c.4798A= (p.Met1600=)
c.4525A= (p.Met1509=)
n.471A=
n.258A=
c.1031A=
c.5071A= (p.Met1691=)
c.4252A= (p.Met1418=)
c.3706A= (p.Met1236=)
c.5620A= (p.Met1874=)
c.5347A= (p.Met1783=)
c.4801A= (p.Met1601=)
c.4528A= (p.Met1510=)
c.3979A= (p.Met1327=)
c.5893A= (p.Met1965=)
c.5617A= (p.Met1873=)
9g.115040990G>ACA466790976TNCc.535C>T
c.3432C>T (p.Ala1144=)
c.4254C>T (p.Ala1418=)
c.2286C>T (p.Ala762=)
c.942C>T (p.Ala314=)
c.4301C>T
c.5343C>T (p.Ala1781=)
c.4797C>T (p.Ala1599=)
c.4524C>T (p.Ala1508=)
n.470C>T
n.257C>T
c.1030C>T
c.5070C>T (p.Ala1690=)
c.4251C>T (p.Ala1417=)
c.3705C>T (p.Ala1235=)
c.5619C>T (p.Ala1873=)
c.5346C>T (p.Ala1782=)
c.4800C>T (p.Ala1600=)
c.4527C>T (p.Ala1509=)
c.3978C>T (p.Ala1326=)
c.5892C>T (p.Ala1964=)
c.5616C>T (p.Ala1872=)
 COSMIC
9g.115040990G>CCA466790977TNCc.535C>G
c.3432C>G (p.Ala1144=)
c.4254C>G (p.Ala1418=)
c.2286C>G (p.Ala762=)
c.942C>G (p.Ala314=)
c.4301C>G
c.5343C>G (p.Ala1781=)
c.4797C>G (p.Ala1599=)
c.4524C>G (p.Ala1508=)
n.470C>G
n.257C>G
c.1030C>G
c.5070C>G (p.Ala1690=)
c.4251C>G (p.Ala1417=)
c.3705C>G (p.Ala1235=)
c.5619C>G (p.Ala1873=)
c.5346C>G (p.Ala1782=)
c.4800C>G (p.Ala1600=)
c.4527C>G (p.Ala1509=)
c.3978C>G (p.Ala1326=)
c.5892C>G (p.Ala1964=)
c.5616C>G (p.Ala1872=)
9g.115040990G>TCA466790978TNCc.535C>A
c.3432C>A (p.Ala1144=)
c.4254C>A (p.Ala1418=)
c.2286C>A (p.Ala762=)
c.942C>A (p.Ala314=)
c.4301C>A
c.5343C>A (p.Ala1781=)
c.4797C>A (p.Ala1599=)
c.4524C>A (p.Ala1508=)
n.470C>A
n.257C>A
c.1030C>A
c.5070C>A (p.Ala1690=)
c.4251C>A (p.Ala1417=)
c.3705C>A (p.Ala1235=)
c.5619C>A (p.Ala1873=)
c.5346C>A (p.Ala1782=)
c.4800C>A (p.Ala1600=)
c.4527C>A (p.Ala1509=)
c.3978C>A (p.Ala1326=)
c.5892C>A (p.Ala1964=)
c.5616C>A (p.Ala1872=)
9g.115040991G>ACA374629212TNCc.534C>T
c.3431C>T (p.Ala1144Val)
c.4253C>T (p.Ala1418Val)
c.2285C>T (p.Ala762Val)
c.941C>T (p.Ala314Val)
c.4300C>T
c.5342C>T (p.Ala1781Val)
c.4796C>T (p.Ala1599Val)
c.4523C>T (p.Ala1508Val)
n.469C>T
n.256C>T
c.1029C>T
c.5069C>T (p.Ala1690Val)
c.4250C>T (p.Ala1417Val)
c.3704C>T (p.Ala1235Val)
c.5618C>T (p.Ala1873Val)
c.5345C>T (p.Ala1782Val)
c.4799C>T (p.Ala1600Val)
c.4526C>T (p.Ala1509Val)
c.3977C>T (p.Ala1326Val)
c.5891C>T (p.Ala1964Val)
c.5615C>T (p.Ala1872Val)
9g.115040991G>CCA374629214TNCc.534C>G
c.3431C>G (p.Ala1144Gly)
c.4253C>G (p.Ala1418Gly)
c.2285C>G (p.Ala762Gly)
c.941C>G (p.Ala314Gly)
c.4300C>G
c.5342C>G (p.Ala1781Gly)
c.4796C>G (p.Ala1599Gly)
c.4523C>G (p.Ala1508Gly)
n.469C>G
n.256C>G
c.1029C>G
c.5069C>G (p.Ala1690Gly)
c.4250C>G (p.Ala1417Gly)
c.3704C>G (p.Ala1235Gly)
c.5618C>G (p.Ala1873Gly)
c.5345C>G (p.Ala1782Gly)
c.4799C>G (p.Ala1600Gly)
c.4526C>G (p.Ala1509Gly)
c.3977C>G (p.Ala1326Gly)
c.5891C>G (p.Ala1964Gly)
c.5615C>G (p.Ala1872Gly)
9g.115040991G>TCA374629210TNCc.534C>A
c.3431C>A (p.Ala1144Asp)
c.4253C>A (p.Ala1418Asp)
c.2285C>A (p.Ala762Asp)
c.941C>A (p.Ala314Asp)
c.4300C>A
c.5342C>A (p.Ala1781Asp)
c.4796C>A (p.Ala1599Asp)
c.4523C>A (p.Ala1508Asp)
n.469C>A
n.256C>A
c.1029C>A
c.5069C>A (p.Ala1690Asp)
c.4250C>A (p.Ala1417Asp)
c.3704C>A (p.Ala1235Asp)
c.5618C>A (p.Ala1873Asp)
c.5345C>A (p.Ala1782Asp)
c.4799C>A (p.Ala1600Asp)
c.4526C>A (p.Ala1509Asp)
c.3977C>A (p.Ala1326Asp)
c.5891C>A (p.Ala1964Asp)
c.5615C>A (p.Ala1872Asp)
9g.115040992C>ACA374629215TNCc.533G>T
c.3430G>T (p.Ala1144Ser)
c.4252G>T (p.Ala1418Ser)
c.2284G>T (p.Ala762Ser)
c.940G>T (p.Ala314Ser)
c.4299G>T
c.5341G>T (p.Ala1781Ser)
c.4795G>T (p.Ala1599Ser)
c.4522G>T (p.Ala1508Ser)
n.468G>T
n.255G>T
c.1028G>T
c.5068G>T (p.Ala1690Ser)
c.4249G>T (p.Ala1417Ser)
c.3703G>T (p.Ala1235Ser)
c.5617G>T (p.Ala1873Ser)
c.5344G>T (p.Ala1782Ser)
c.4798G>T (p.Ala1600Ser)
c.4525G>T (p.Ala1509Ser)
c.3976G>T (p.Ala1326Ser)
c.5890G>T (p.Ala1964Ser)
c.5614G>T (p.Ala1872Ser)
9g.115040992C=CA1874116340TNCc.533G=
c.3430G= (p.Ala1144=)
c.4252G= (p.Ala1418=)
c.2284G= (p.Ala762=)
c.940G= (p.Ala314=)
c.4299G=
c.5341G= (p.Ala1781=)
c.4795G= (p.Ala1599=)
c.4522G= (p.Ala1508=)
n.468G=
n.255G=
c.1028G=
c.5068G= (p.Ala1690=)
c.4249G= (p.Ala1417=)
c.3703G= (p.Ala1235=)
c.5617G= (p.Ala1873=)
c.5344G= (p.Ala1782=)
c.4798G= (p.Ala1600=)
c.4525G= (p.Ala1509=)
c.3976G= (p.Ala1326=)
c.5890G= (p.Ala1964=)
c.5614G= (p.Ala1872=)
9g.115040992C>GCA374629217TNCc.533G>C
c.3430G>C (p.Ala1144Pro)
c.4252G>C (p.Ala1418Pro)
c.2284G>C (p.Ala762Pro)
c.940G>C (p.Ala314Pro)
c.4299G>C
c.5341G>C (p.Ala1781Pro)
c.4795G>C (p.Ala1599Pro)
c.4522G>C (p.Ala1508Pro)
n.468G>C
n.255G>C
c.1028G>C
c.5068G>C (p.Ala1690Pro)
c.4249G>C (p.Ala1417Pro)
c.3703G>C (p.Ala1235Pro)
c.5617G>C (p.Ala1873Pro)
c.5344G>C (p.Ala1782Pro)
c.4798G>C (p.Ala1600Pro)
c.4525G>C (p.Ala1509Pro)
c.3976G>C (p.Ala1326Pro)
c.5890G>C (p.Ala1964Pro)
c.5614G>C (p.Ala1872Pro)
9g.115040992C>TCA5207684TNCc.533G>A
c.3430G>A (p.Ala1144Thr)
c.4252G>A (p.Ala1418Thr)
c.2284G>A (p.Ala762Thr)
c.940G>A (p.Ala314Thr)
c.4299G>A
c.5341G>A (p.Ala1781Thr)
c.4795G>A (p.Ala1599Thr)
c.4522G>A (p.Ala1508Thr)
n.468G>A
n.255G>A
c.1028G>A
c.5068G>A (p.Ala1690Thr)
c.4249G>A (p.Ala1417Thr)
c.3703G>A (p.Ala1235Thr)
c.5617G>A (p.Ala1873Thr)
c.5344G>A (p.Ala1782Thr)
c.4798G>A (p.Ala1600Thr)
c.4525G>A (p.Ala1509Thr)
c.3976G>A (p.Ala1326Thr)
c.5890G>A (p.Ala1964Thr)
c.5614G>A (p.Ala1872Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040993G>ACA5207685TNCc.532C>T
c.3429C>T (p.Ile1143=)
c.4251C>T (p.Ile1417=)
c.2283C>T (p.Ile761=)
c.939C>T (p.Ile313=)
c.4298C>T
c.5340C>T (p.Ile1780=)
c.4794C>T (p.Ile1598=)
c.4521C>T (p.Ile1507=)
n.467C>T
n.254C>T
c.1027C>T
c.5067C>T (p.Ile1689=)
c.4248C>T (p.Ile1416=)
c.3702C>T (p.Ile1234=)
c.5616C>T (p.Ile1872=)
c.5343C>T (p.Ile1781=)
c.4797C>T (p.Ile1599=)
c.4524C>T (p.Ile1508=)
c.3975C>T (p.Ile1325=)
c.5889C>T (p.Ile1963=)
c.5613C>T (p.Ile1871=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040993G>CCA374629221TNCc.532C>G
c.3429C>G (p.Ile1143Met)
c.4251C>G (p.Ile1417Met)
c.2283C>G (p.Ile761Met)
c.939C>G (p.Ile313Met)
c.4298C>G
c.5340C>G (p.Ile1780Met)
c.4794C>G (p.Ile1598Met)
c.4521C>G (p.Ile1507Met)
n.467C>G
n.254C>G
c.1027C>G
c.5067C>G (p.Ile1689Met)
c.4248C>G (p.Ile1416Met)
c.3702C>G (p.Ile1234Met)
c.5616C>G (p.Ile1872Met)
c.5343C>G (p.Ile1781Met)
c.4797C>G (p.Ile1599Met)
c.4524C>G (p.Ile1508Met)
c.3975C>G (p.Ile1325Met)
c.5889C>G (p.Ile1963Met)
c.5613C>G (p.Ile1871Met)
9g.115040993G=CA1874116343TNCc.532C=
c.3429C= (p.Ile1143=)
c.4251C= (p.Ile1417=)
c.2283C= (p.Ile761=)
c.939C= (p.Ile313=)
c.4298C=
c.5340C= (p.Ile1780=)
c.4794C= (p.Ile1598=)
c.4521C= (p.Ile1507=)
n.467C=
n.254C=
c.1027C=
c.5067C= (p.Ile1689=)
c.4248C= (p.Ile1416=)
c.3702C= (p.Ile1234=)
c.5616C= (p.Ile1872=)
c.5343C= (p.Ile1781=)
c.4797C= (p.Ile1599=)
c.4524C= (p.Ile1508=)
c.3975C= (p.Ile1325=)
c.5889C= (p.Ile1963=)
c.5613C= (p.Ile1871=)
9g.115040993G>TCA466790979TNCc.532C>A
c.3429C>A (p.Ile1143=)
c.4251C>A (p.Ile1417=)
c.2283C>A (p.Ile761=)
c.939C>A (p.Ile313=)
c.4298C>A
c.5340C>A (p.Ile1780=)
c.4794C>A (p.Ile1598=)
c.4521C>A (p.Ile1507=)
n.467C>A
n.254C>A
c.1027C>A
c.5067C>A (p.Ile1689=)
c.4248C>A (p.Ile1416=)
c.3702C>A (p.Ile1234=)
c.5616C>A (p.Ile1872=)
c.5343C>A (p.Ile1781=)
c.4797C>A (p.Ile1599=)
c.4524C>A (p.Ile1508=)
c.3975C>A (p.Ile1325=)
c.5889C>A (p.Ile1963=)
c.5613C>A (p.Ile1871=)
 dbSNP COSMIC
9g.115040994A=CA1874116345TNCc.531T=
c.3428T= (p.Ile1143=)
c.4250T= (p.Ile1417=)
c.2282T= (p.Ile761=)
c.938T= (p.Ile313=)
c.4297T=
c.5339T= (p.Ile1780=)
c.4793T= (p.Ile1598=)
c.4520T= (p.Ile1507=)
n.466T=
n.253T=
c.1026T=
c.5066T= (p.Ile1689=)
c.4247T= (p.Ile1416=)
c.3701T= (p.Ile1234=)
c.5615T= (p.Ile1872=)
c.5342T= (p.Ile1781=)
c.4796T= (p.Ile1599=)
c.4523T= (p.Ile1508=)
c.3974T= (p.Ile1325=)
c.5888T= (p.Ile1963=)
c.5612T= (p.Ile1871=)
9g.115040994A>CCA374629225TNCc.531T>G
c.3428T>G (p.Ile1143Ser)
c.4250T>G (p.Ile1417Ser)
c.2282T>G (p.Ile761Ser)
c.938T>G (p.Ile313Ser)
c.4297T>G
c.5339T>G (p.Ile1780Ser)
c.4793T>G (p.Ile1598Ser)
c.4520T>G (p.Ile1507Ser)
n.466T>G
n.253T>G
c.1026T>G
c.5066T>G (p.Ile1689Ser)
c.4247T>G (p.Ile1416Ser)
c.3701T>G (p.Ile1234Ser)
c.5615T>G (p.Ile1872Ser)
c.5342T>G (p.Ile1781Ser)
c.4796T>G (p.Ile1599Ser)
c.4523T>G (p.Ile1508Ser)
c.3974T>G (p.Ile1325Ser)
c.5888T>G (p.Ile1963Ser)
c.5612T>G (p.Ile1871Ser)
9g.115040994A>GCA374629224TNCc.531T>C
c.3428T>C (p.Ile1143Thr)
c.4250T>C (p.Ile1417Thr)
c.2282T>C (p.Ile761Thr)
c.938T>C (p.Ile313Thr)
c.4297T>C
c.5339T>C (p.Ile1780Thr)
c.4793T>C (p.Ile1598Thr)
c.4520T>C (p.Ile1507Thr)
n.466T>C
n.253T>C
c.1026T>C
c.5066T>C (p.Ile1689Thr)
c.4247T>C (p.Ile1416Thr)
c.3701T>C (p.Ile1234Thr)
c.5615T>C (p.Ile1872Thr)
c.5342T>C (p.Ile1781Thr)
c.4796T>C (p.Ile1599Thr)
c.4523T>C (p.Ile1508Thr)
c.3974T>C (p.Ile1325Thr)
c.5888T>C (p.Ile1963Thr)
c.5612T>C (p.Ile1871Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.115040994A>TCA374629223TNCc.531T>A
c.3428T>A (p.Ile1143Asn)
c.4250T>A (p.Ile1417Asn)
c.2282T>A (p.Ile761Asn)
c.938T>A (p.Ile313Asn)
c.4297T>A
c.5339T>A (p.Ile1780Asn)
c.4793T>A (p.Ile1598Asn)
c.4520T>A (p.Ile1507Asn)
n.466T>A
n.253T>A
c.1026T>A
c.5066T>A (p.Ile1689Asn)
c.4247T>A (p.Ile1416Asn)
c.3701T>A (p.Ile1234Asn)
c.5615T>A (p.Ile1872Asn)
c.5342T>A (p.Ile1781Asn)
c.4796T>A (p.Ile1599Asn)
c.4523T>A (p.Ile1508Asn)
c.3974T>A (p.Ile1325Asn)
c.5888T>A (p.Ile1963Asn)
c.5612T>A (p.Ile1871Asn)
9g.115040995T>ACA374629227TNCc.530A>T
c.3427A>T (p.Ile1143Phe)
c.4249A>T (p.Ile1417Phe)
c.2281A>T (p.Ile761Phe)
c.937A>T (p.Ile313Phe)
c.4296A>T
c.5338A>T (p.Ile1780Phe)
c.4792A>T (p.Ile1598Phe)
c.4519A>T (p.Ile1507Phe)
n.465A>T
n.252A>T
c.1025A>T
c.5065A>T (p.Ile1689Phe)
c.4246A>T (p.Ile1416Phe)
c.3700A>T (p.Ile1234Phe)
c.5614A>T (p.Ile1872Phe)
c.5341A>T (p.Ile1781Phe)
c.4795A>T (p.Ile1599Phe)
c.4522A>T (p.Ile1508Phe)
c.3973A>T (p.Ile1325Phe)
c.5887A>T (p.Ile1963Phe)
c.5611A>T (p.Ile1871Phe)
9g.115040995T>CCA374629228TNCc.530A>G
c.3427A>G (p.Ile1143Val)
c.4249A>G (p.Ile1417Val)
c.2281A>G (p.Ile761Val)
c.937A>G (p.Ile313Val)
c.4296A>G
c.5338A>G (p.Ile1780Val)
c.4792A>G (p.Ile1598Val)
c.4519A>G (p.Ile1507Val)
n.465A>G
n.252A>G
c.1025A>G
c.5065A>G (p.Ile1689Val)
c.4246A>G (p.Ile1416Val)
c.3700A>G (p.Ile1234Val)
c.5614A>G (p.Ile1872Val)
c.5341A>G (p.Ile1781Val)
c.4795A>G (p.Ile1599Val)
c.4522A>G (p.Ile1508Val)
c.3973A>G (p.Ile1325Val)
c.5887A>G (p.Ile1963Val)
c.5611A>G (p.Ile1871Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040995T>GCA374629230TNCc.530A>C
c.3427A>C (p.Ile1143Leu)
c.4249A>C (p.Ile1417Leu)
c.2281A>C (p.Ile761Leu)
c.937A>C (p.Ile313Leu)
c.4296A>C
c.5338A>C (p.Ile1780Leu)
c.4792A>C (p.Ile1598Leu)
c.4519A>C (p.Ile1507Leu)
n.465A>C
n.252A>C
c.1025A>C
c.5065A>C (p.Ile1689Leu)
c.4246A>C (p.Ile1416Leu)
c.3700A>C (p.Ile1234Leu)
c.5614A>C (p.Ile1872Leu)
c.5341A>C (p.Ile1781Leu)
c.4795A>C (p.Ile1599Leu)
c.4522A>C (p.Ile1508Leu)
c.3973A>C (p.Ile1325Leu)
c.5887A>C (p.Ile1963Leu)
c.5611A>C (p.Ile1871Leu)
9g.115040995T=CA1874116347TNCc.530A=
c.3427A= (p.Ile1143=)
c.4249A= (p.Ile1417=)
c.2281A= (p.Ile761=)
c.937A= (p.Ile313=)
c.4296A=
c.5338A= (p.Ile1780=)
c.4792A= (p.Ile1598=)
c.4519A= (p.Ile1507=)
n.465A=
n.252A=
c.1025A=
c.5065A= (p.Ile1689=)
c.4246A= (p.Ile1416=)
c.3700A= (p.Ile1234=)
c.5614A= (p.Ile1872=)
c.5341A= (p.Ile1781=)
c.4795A= (p.Ile1599=)
c.4522A= (p.Ile1508=)
c.3973A= (p.Ile1325=)
c.5887A= (p.Ile1963=)
c.5611A= (p.Ile1871=)
9g.115040996G>ACA466790980TNCc.529C>T
c.3426C>T (p.Ile1142=)
c.4248C>T (p.Ile1416=)
c.2280C>T (p.Ile760=)
c.936C>T (p.Ile312=)
c.4295C>T
c.5337C>T (p.Ile1779=)
c.4791C>T (p.Ile1597=)
c.4518C>T (p.Ile1506=)
n.464C>T
n.251C>T
c.1024C>T
c.5064C>T (p.Ile1688=)
c.4245C>T (p.Ile1415=)
c.3699C>T (p.Ile1233=)
c.5613C>T (p.Ile1871=)
c.5340C>T (p.Ile1780=)
c.4794C>T (p.Ile1598=)
c.4521C>T (p.Ile1507=)
c.3972C>T (p.Ile1324=)
c.5886C>T (p.Ile1962=)
c.5610C>T (p.Ile1870=)
9g.115040996G>CCA374629232TNCc.529C>G
c.3426C>G (p.Ile1142Met)
c.4248C>G (p.Ile1416Met)
c.2280C>G (p.Ile760Met)
c.936C>G (p.Ile312Met)
c.4295C>G
c.5337C>G (p.Ile1779Met)
c.4791C>G (p.Ile1597Met)
c.4518C>G (p.Ile1506Met)
n.464C>G
n.251C>G
c.1024C>G
c.5064C>G (p.Ile1688Met)
c.4245C>G (p.Ile1415Met)
c.3699C>G (p.Ile1233Met)
c.5613C>G (p.Ile1871Met)
c.5340C>G (p.Ile1780Met)
c.4794C>G (p.Ile1598Met)
c.4521C>G (p.Ile1507Met)
c.3972C>G (p.Ile1324Met)
c.5886C>G (p.Ile1962Met)
c.5610C>G (p.Ile1870Met)
9g.115040996G>TCA466790981TNCc.529C>A
c.3426C>A (p.Ile1142=)
c.4248C>A (p.Ile1416=)
c.2280C>A (p.Ile760=)
c.936C>A (p.Ile312=)
c.4295C>A
c.5337C>A (p.Ile1779=)
c.4791C>A (p.Ile1597=)
c.4518C>A (p.Ile1506=)
n.464C>A
n.251C>A
c.1024C>A
c.5064C>A (p.Ile1688=)
c.4245C>A (p.Ile1415=)
c.3699C>A (p.Ile1233=)
c.5613C>A (p.Ile1871=)
c.5340C>A (p.Ile1780=)
c.4794C>A (p.Ile1598=)
c.4521C>A (p.Ile1507=)
c.3972C>A (p.Ile1324=)
c.5886C>A (p.Ile1962=)
c.5610C>A (p.Ile1870=)
 COSMIC
9g.115040997A>CCA374629234TNCc.528T>G
c.3425T>G (p.Ile1142Ser)
c.4247T>G (p.Ile1416Ser)
c.2279T>G (p.Ile760Ser)
c.935T>G (p.Ile312Ser)
c.4294T>G
c.5336T>G (p.Ile1779Ser)
c.4790T>G (p.Ile1597Ser)
c.4517T>G (p.Ile1506Ser)
n.463T>G
n.250T>G
c.1023T>G
c.5063T>G (p.Ile1688Ser)
c.4244T>G (p.Ile1415Ser)
c.3698T>G (p.Ile1233Ser)
c.5612T>G (p.Ile1871Ser)
c.5339T>G (p.Ile1780Ser)
c.4793T>G (p.Ile1598Ser)
c.4520T>G (p.Ile1507Ser)
c.3971T>G (p.Ile1324Ser)
c.5885T>G (p.Ile1962Ser)
c.5609T>G (p.Ile1870Ser)
9g.115040997A>GCA374629236TNCc.528T>C
c.3425T>C (p.Ile1142Thr)
c.4247T>C (p.Ile1416Thr)
c.2279T>C (p.Ile760Thr)
c.935T>C (p.Ile312Thr)
c.4294T>C
c.5336T>C (p.Ile1779Thr)
c.4790T>C (p.Ile1597Thr)
c.4517T>C (p.Ile1506Thr)
n.463T>C
n.250T>C
c.1023T>C
c.5063T>C (p.Ile1688Thr)
c.4244T>C (p.Ile1415Thr)
c.3698T>C (p.Ile1233Thr)
c.5612T>C (p.Ile1871Thr)
c.5339T>C (p.Ile1780Thr)
c.4793T>C (p.Ile1598Thr)
c.4520T>C (p.Ile1507Thr)
c.3971T>C (p.Ile1324Thr)
c.5885T>C (p.Ile1962Thr)
c.5609T>C (p.Ile1870Thr)
9g.115040997A>TCA374629238TNCc.528T>A
c.3425T>A (p.Ile1142Asn)
c.4247T>A (p.Ile1416Asn)
c.2279T>A (p.Ile760Asn)
c.935T>A (p.Ile312Asn)
c.4294T>A
c.5336T>A (p.Ile1779Asn)
c.4790T>A (p.Ile1597Asn)
c.4517T>A (p.Ile1506Asn)
n.463T>A
n.250T>A
c.1023T>A
c.5063T>A (p.Ile1688Asn)
c.4244T>A (p.Ile1415Asn)
c.3698T>A (p.Ile1233Asn)
c.5612T>A (p.Ile1871Asn)
c.5339T>A (p.Ile1780Asn)
c.4793T>A (p.Ile1598Asn)
c.4520T>A (p.Ile1507Asn)
c.3971T>A (p.Ile1324Asn)
c.5885T>A (p.Ile1962Asn)
c.5609T>A (p.Ile1870Asn)
9g.115040998T>ACA374629240TNCc.527A>T
c.3424A>T (p.Ile1142Phe)
c.4246A>T (p.Ile1416Phe)
c.2278A>T (p.Ile760Phe)
c.934A>T (p.Ile312Phe)
c.4293A>T
c.5335A>T (p.Ile1779Phe)
c.4789A>T (p.Ile1597Phe)
c.4516A>T (p.Ile1506Phe)
n.462A>T
n.249A>T
c.1022A>T
c.5062A>T (p.Ile1688Phe)
c.4243A>T (p.Ile1415Phe)
c.3697A>T (p.Ile1233Phe)
c.5611A>T (p.Ile1871Phe)
c.5338A>T (p.Ile1780Phe)
c.4792A>T (p.Ile1598Phe)
c.4519A>T (p.Ile1507Phe)
c.3970A>T (p.Ile1324Phe)
c.5884A>T (p.Ile1962Phe)
c.5608A>T (p.Ile1870Phe)
9g.115040998T>CCA374629244TNCc.527A>G
c.3424A>G (p.Ile1142Val)
c.4246A>G (p.Ile1416Val)
c.2278A>G (p.Ile760Val)
c.934A>G (p.Ile312Val)
c.4293A>G
c.5335A>G (p.Ile1779Val)
c.4789A>G (p.Ile1597Val)
c.4516A>G (p.Ile1506Val)
n.462A>G
n.249A>G
c.1022A>G
c.5062A>G (p.Ile1688Val)
c.4243A>G (p.Ile1415Val)
c.3697A>G (p.Ile1233Val)
c.5611A>G (p.Ile1871Val)
c.5338A>G (p.Ile1780Val)
c.4792A>G (p.Ile1598Val)
c.4519A>G (p.Ile1507Val)
c.3970A>G (p.Ile1324Val)
c.5884A>G (p.Ile1962Val)
c.5608A>G (p.Ile1870Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115040998T>GCA374629242TNCc.527A>C
c.3424A>C (p.Ile1142Leu)
c.4246A>C (p.Ile1416Leu)
c.2278A>C (p.Ile760Leu)
c.934A>C (p.Ile312Leu)
c.4293A>C
c.5335A>C (p.Ile1779Leu)
c.4789A>C (p.Ile1597Leu)
c.4516A>C (p.Ile1506Leu)
n.462A>C
n.249A>C
c.1022A>C
c.5062A>C (p.Ile1688Leu)
c.4243A>C (p.Ile1415Leu)
c.3697A>C (p.Ile1233Leu)
c.5611A>C (p.Ile1871Leu)
c.5338A>C (p.Ile1780Leu)
c.4792A>C (p.Ile1598Leu)
c.4519A>C (p.Ile1507Leu)
c.3970A>C (p.Ile1324Leu)
c.5884A>C (p.Ile1962Leu)
c.5608A>C (p.Ile1870Leu)
9g.115040998T=CA1874116349TNCc.527A=
c.3424A= (p.Ile1142=)
c.4246A= (p.Ile1416=)
c.2278A= (p.Ile760=)
c.934A= (p.Ile312=)
c.4293A=
c.5335A= (p.Ile1779=)
c.4789A= (p.Ile1597=)
c.4516A= (p.Ile1506=)
n.462A=
n.249A=
c.1022A=
c.5062A= (p.Ile1688=)
c.4243A= (p.Ile1415=)
c.3697A= (p.Ile1233=)
c.5611A= (p.Ile1871=)
c.5338A= (p.Ile1780=)
c.4792A= (p.Ile1598=)
c.4519A= (p.Ile1507=)
c.3970A= (p.Ile1324=)
c.5884A= (p.Ile1962=)
c.5608A= (p.Ile1870=)
9g.115040999G>ACA466790982TNCc.526C>T
c.3423C>T (p.Ser1141=)
c.4245C>T (p.Ser1415=)
c.2277C>T (p.Ser759=)
c.933C>T (p.Ser311=)
c.4292C>T
c.5334C>T (p.Ser1778=)
c.4788C>T (p.Ser1596=)
c.4515C>T (p.Ser1505=)
n.461C>T
n.248C>T
c.1021C>T
c.5061C>T (p.Ser1687=)
c.4242C>T (p.Ser1414=)
c.3696C>T (p.Ser1232=)
c.5610C>T (p.Ser1870=)
c.5337C>T (p.Ser1779=)
c.4791C>T (p.Ser1597=)
c.4518C>T (p.Ser1506=)
c.3969C>T (p.Ser1323=)
c.5883C>T (p.Ser1961=)
c.5607C>T (p.Ser1869=)
9g.115040999G>CCA374629246TNCc.526C>G
c.3423C>G (p.Ser1141Arg)
c.4245C>G (p.Ser1415Arg)
c.2277C>G (p.Ser759Arg)
c.933C>G (p.Ser311Arg)
c.4292C>G
c.5334C>G (p.Ser1778Arg)
c.4788C>G (p.Ser1596Arg)
c.4515C>G (p.Ser1505Arg)
n.461C>G
n.248C>G
c.1021C>G
c.5061C>G (p.Ser1687Arg)
c.4242C>G (p.Ser1414Arg)
c.3696C>G (p.Ser1232Arg)
c.5610C>G (p.Ser1870Arg)
c.5337C>G (p.Ser1779Arg)
c.4791C>G (p.Ser1597Arg)
c.4518C>G (p.Ser1506Arg)
c.3969C>G (p.Ser1323Arg)
c.5883C>G (p.Ser1961Arg)
c.5607C>G (p.Ser1869Arg)
9g.115040999G>TCA374629248TNCc.526C>A
c.3423C>A (p.Ser1141Arg)
c.4245C>A (p.Ser1415Arg)
c.2277C>A (p.Ser759Arg)
c.933C>A (p.Ser311Arg)
c.4292C>A
c.5334C>A (p.Ser1778Arg)
c.4788C>A (p.Ser1596Arg)
c.4515C>A (p.Ser1505Arg)
n.461C>A
n.248C>A
c.1021C>A
c.5061C>A (p.Ser1687Arg)
c.4242C>A (p.Ser1414Arg)
c.3696C>A (p.Ser1232Arg)
c.5610C>A (p.Ser1870Arg)
c.5337C>A (p.Ser1779Arg)
c.4791C>A (p.Ser1597Arg)
c.4518C>A (p.Ser1506Arg)
c.3969C>A (p.Ser1323Arg)
c.5883C>A (p.Ser1961Arg)
c.5607C>A (p.Ser1869Arg)
 gnomAD v4
9g.115041000C>ACA5207686TNCc.525G>T
c.3422G>T (p.Ser1141Ile)
c.4244G>T (p.Ser1415Ile)
c.2276G>T (p.Ser759Ile)
c.932G>T (p.Ser311Ile)
c.4291G>T
c.5333G>T (p.Ser1778Ile)
c.4787G>T (p.Ser1596Ile)
c.4514G>T (p.Ser1505Ile)
n.460G>T
n.247G>T
c.1020G>T
c.5060G>T (p.Ser1687Ile)
c.4241G>T (p.Ser1414Ile)
c.3695G>T (p.Ser1232Ile)
c.5609G>T (p.Ser1870Ile)
c.5336G>T (p.Ser1779Ile)
c.4790G>T (p.Ser1597Ile)
c.4517G>T (p.Ser1506Ile)
c.3968G>T (p.Ser1323Ile)
c.5882G>T (p.Ser1961Ile)
c.5606G>T (p.Ser1869Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041000C=CA1874116352TNCc.525G=
c.3422G= (p.Ser1141=)
c.4244G= (p.Ser1415=)
c.2276G= (p.Ser759=)
c.932G= (p.Ser311=)
c.4291G=
c.5333G= (p.Ser1778=)
c.4787G= (p.Ser1596=)
c.4514G= (p.Ser1505=)
n.460G=
n.247G=
c.1020G=
c.5060G= (p.Ser1687=)
c.4241G= (p.Ser1414=)
c.3695G= (p.Ser1232=)
c.5609G= (p.Ser1870=)
c.5336G= (p.Ser1779=)
c.4790G= (p.Ser1597=)
c.4517G= (p.Ser1506=)
c.3968G= (p.Ser1323=)
c.5882G= (p.Ser1961=)
c.5606G= (p.Ser1869=)
9g.115041000C>GCA374629251TNCc.525G>C
c.3422G>C (p.Ser1141Thr)
c.4244G>C (p.Ser1415Thr)
c.2276G>C (p.Ser759Thr)
c.932G>C (p.Ser311Thr)
c.4291G>C
c.5333G>C (p.Ser1778Thr)
c.4787G>C (p.Ser1596Thr)
c.4514G>C (p.Ser1505Thr)
n.460G>C
n.247G>C
c.1020G>C
c.5060G>C (p.Ser1687Thr)
c.4241G>C (p.Ser1414Thr)
c.3695G>C (p.Ser1232Thr)
c.5609G>C (p.Ser1870Thr)
c.5336G>C (p.Ser1779Thr)
c.4790G>C (p.Ser1597Thr)
c.4517G>C (p.Ser1506Thr)
c.3968G>C (p.Ser1323Thr)
c.5882G>C (p.Ser1961Thr)
c.5606G>C (p.Ser1869Thr)
9g.115041000C>TCA374629253TNCc.525G>A
c.3422G>A (p.Ser1141Asn)
c.4244G>A (p.Ser1415Asn)
c.2276G>A (p.Ser759Asn)
c.932G>A (p.Ser311Asn)
c.4291G>A
c.5333G>A (p.Ser1778Asn)
c.4787G>A (p.Ser1596Asn)
c.4514G>A (p.Ser1505Asn)
n.460G>A
n.247G>A
c.1020G>A
c.5060G>A (p.Ser1687Asn)
c.4241G>A (p.Ser1414Asn)
c.3695G>A (p.Ser1232Asn)
c.5609G>A (p.Ser1870Asn)
c.5336G>A (p.Ser1779Asn)
c.4790G>A (p.Ser1597Asn)
c.4517G>A (p.Ser1506Asn)
c.3968G>A (p.Ser1323Asn)
c.5882G>A (p.Ser1961Asn)
c.5606G>A (p.Ser1869Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.115041001T>ACA374629255TNCc.524A>T
c.3421A>T (p.Ser1141Cys)
c.4243A>T (p.Ser1415Cys)
c.2275A>T (p.Ser759Cys)
c.931A>T (p.Ser311Cys)
c.4290A>T
c.5332A>T (p.Ser1778Cys)
c.4786A>T (p.Ser1596Cys)
c.4513A>T (p.Ser1505Cys)
n.459A>T
n.246A>T
c.1019A>T
c.5059A>T (p.Ser1687Cys)
c.4240A>T (p.Ser1414Cys)
c.3694A>T (p.Ser1232Cys)
c.5608A>T (p.Ser1870Cys)
c.5335A>T (p.Ser1779Cys)
c.4789A>T (p.Ser1597Cys)
c.4516A>T (p.Ser1506Cys)
c.3967A>T (p.Ser1323Cys)
c.5881A>T (p.Ser1961Cys)
c.5605A>T (p.Ser1869Cys)
9g.115041001T>CCA374629257TNCc.524A>G
c.3421A>G (p.Ser1141Gly)
c.4243A>G (p.Ser1415Gly)
c.2275A>G (p.Ser759Gly)
c.931A>G (p.Ser311Gly)
c.4290A>G
c.5332A>G (p.Ser1778Gly)
c.4786A>G (p.Ser1596Gly)
c.4513A>G (p.Ser1505Gly)
n.459A>G
n.246A>G
c.1019A>G
c.5059A>G (p.Ser1687Gly)
c.4240A>G (p.Ser1414Gly)
c.3694A>G (p.Ser1232Gly)
c.5608A>G (p.Ser1870Gly)
c.5335A>G (p.Ser1779Gly)
c.4789A>G (p.Ser1597Gly)
c.4516A>G (p.Ser1506Gly)
c.3967A>G (p.Ser1323Gly)
c.5881A>G (p.Ser1961Gly)
c.5605A>G (p.Ser1869Gly)
9g.115041001T>GCA374629259TNCc.524A>C
c.3421A>C (p.Ser1141Arg)
c.4243A>C (p.Ser1415Arg)
c.2275A>C (p.Ser759Arg)
c.931A>C (p.Ser311Arg)
c.4290A>C
c.5332A>C (p.Ser1778Arg)
c.4786A>C (p.Ser1596Arg)
c.4513A>C (p.Ser1505Arg)
n.459A>C
n.246A>C
c.1019A>C
c.5059A>C (p.Ser1687Arg)
c.4240A>C (p.Ser1414Arg)
c.3694A>C (p.Ser1232Arg)
c.5608A>C (p.Ser1870Arg)
c.5335A>C (p.Ser1779Arg)
c.4789A>C (p.Ser1597Arg)
c.4516A>C (p.Ser1506Arg)
c.3967A>C (p.Ser1323Arg)
c.5881A>C (p.Ser1961Arg)
c.5605A>C (p.Ser1869Arg)
9g.115041002G>ACA466790983TNCc.523C>T
c.3420C>T (p.Val1140=)
c.4242C>T (p.Val1414=)
c.2274C>T (p.Val758=)
c.930C>T (p.Val310=)
c.4289C>T
c.5331C>T (p.Val1777=)
c.4785C>T (p.Val1595=)
c.4512C>T (p.Val1504=)
n.458C>T
n.245C>T
c.1018C>T
c.5058C>T (p.Val1686=)
c.4239C>T (p.Val1413=)
c.3693C>T (p.Val1231=)
c.5607C>T (p.Val1869=)
c.5334C>T (p.Val1778=)
c.4788C>T (p.Val1596=)
c.4515C>T (p.Val1505=)
c.3966C>T (p.Val1322=)
c.5880C>T (p.Val1960=)
c.5604C>T (p.Val1868=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115041002G>CCA466790984TNCc.523C>G
c.3420C>G (p.Val1140=)
c.4242C>G (p.Val1414=)
c.2274C>G (p.Val758=)
c.930C>G (p.Val310=)
c.4289C>G
c.5331C>G (p.Val1777=)
c.4785C>G (p.Val1595=)
c.4512C>G (p.Val1504=)
n.458C>G
n.245C>G
c.1018C>G
c.5058C>G (p.Val1686=)
c.4239C>G (p.Val1413=)
c.3693C>G (p.Val1231=)
c.5607C>G (p.Val1869=)
c.5334C>G (p.Val1778=)
c.4788C>G (p.Val1596=)
c.4515C>G (p.Val1505=)
c.3966C>G (p.Val1322=)
c.5880C>G (p.Val1960=)
c.5604C>G (p.Val1868=)
9g.115041002G=CA1874116330TNCc.523C=
c.3420C= (p.Val1140=)
c.4242C= (p.Val1414=)
c.2274C= (p.Val758=)
c.930C= (p.Val310=)
c.4289C=
c.5331C= (p.Val1777=)
c.4785C= (p.Val1595=)
c.4512C= (p.Val1504=)
n.458C=
n.245C=
c.1018C=
c.5058C= (p.Val1686=)
c.4239C= (p.Val1413=)
c.3693C= (p.Val1231=)
c.5607C= (p.Val1869=)
c.5334C= (p.Val1778=)
c.4788C= (p.Val1596=)
c.4515C= (p.Val1505=)
c.3966C= (p.Val1322=)
c.5880C= (p.Val1960=)
c.5604C= (p.Val1868=)
9g.115041002G>TCA198685264TNCc.523C>A
c.3420C>A (p.Val1140=)
c.4242C>A (p.Val1414=)
c.2274C>A (p.Val758=)
c.930C>A (p.Val310=)
c.4289C>A
c.5331C>A (p.Val1777=)
c.4785C>A (p.Val1595=)
c.4512C>A (p.Val1504=)
n.458C>A
n.245C>A
c.1018C>A
c.5058C>A (p.Val1686=)
c.4239C>A (p.Val1413=)
c.3693C>A (p.Val1231=)
c.5607C>A (p.Val1869=)
c.5334C>A (p.Val1778=)
c.4788C>A (p.Val1596=)
c.4515C>A (p.Val1505=)
c.3966C>A (p.Val1322=)
c.5880C>A (p.Val1960=)
c.5604C>A (p.Val1868=)
 dbSNP gnomAD v4
9g.115041003A>CCA374629263TNCc.522T>G
c.3419T>G (p.Val1140Gly)
c.4241T>G (p.Val1414Gly)
c.2273T>G (p.Val758Gly)
c.929T>G (p.Val310Gly)
c.4288T>G
c.5330T>G (p.Val1777Gly)
c.4784T>G (p.Val1595Gly)
c.4511T>G (p.Val1504Gly)
n.457T>G
n.244T>G
c.1017T>G
c.5057T>G (p.Val1686Gly)
c.4238T>G (p.Val1413Gly)
c.3692T>G (p.Val1231Gly)
c.5606T>G (p.Val1869Gly)
c.5333T>G (p.Val1778Gly)
c.4787T>G (p.Val1596Gly)
c.4514T>G (p.Val1505Gly)
c.3965T>G (p.Val1322Gly)
c.5879T>G (p.Val1960Gly)
c.5603T>G (p.Val1868Gly)
9g.115041003A>GCA374629264TNCc.522T>C
c.3419T>C (p.Val1140Ala)
c.4241T>C (p.Val1414Ala)
c.2273T>C (p.Val758Ala)
c.929T>C (p.Val310Ala)
c.4288T>C
c.5330T>C (p.Val1777Ala)
c.4784T>C (p.Val1595Ala)
c.4511T>C (p.Val1504Ala)
n.457T>C
n.244T>C
c.1017T>C
c.5057T>C (p.Val1686Ala)
c.4238T>C (p.Val1413Ala)
c.3692T>C (p.Val1231Ala)
c.5606T>C (p.Val1869Ala)
c.5333T>C (p.Val1778Ala)
c.4787T>C (p.Val1596Ala)
c.4514T>C (p.Val1505Ala)
c.3965T>C (p.Val1322Ala)
c.5879T>C (p.Val1960Ala)
c.5603T>C (p.Val1868Ala)
 gnomAD v4
9g.115041003A>TCA374629266TNCc.522T>A
c.3419T>A (p.Val1140Asp)
c.4241T>A (p.Val1414Asp)
c.2273T>A (p.Val758Asp)
c.929T>A (p.Val310Asp)
c.4288T>A
c.5330T>A (p.Val1777Asp)
c.4784T>A (p.Val1595Asp)
c.4511T>A (p.Val1504Asp)
n.457T>A
n.244T>A
c.1017T>A
c.5057T>A (p.Val1686Asp)
c.4238T>A (p.Val1413Asp)
c.3692T>A (p.Val1231Asp)
c.5606T>A (p.Val1869Asp)
c.5333T>A (p.Val1778Asp)
c.4787T>A (p.Val1596Asp)
c.4514T>A (p.Val1505Asp)
c.3965T>A (p.Val1322Asp)
c.5879T>A (p.Val1960Asp)
c.5603T>A (p.Val1868Asp)
9g.115041004C>ACA374629268TNCc.521G>T
c.3418G>T (p.Val1140Phe)
c.4240G>T (p.Val1414Phe)
c.2272G>T (p.Val758Phe)
c.928G>T (p.Val310Phe)
c.4287G>T
c.5329G>T (p.Val1777Phe)
c.4783G>T (p.Val1595Phe)
c.4510G>T (p.Val1504Phe)
n.456G>T
n.243G>T
c.1016G>T
c.5056G>T (p.Val1686Phe)
c.4237G>T (p.Val1413Phe)
c.3691G>T (p.Val1231Phe)
c.5605G>T (p.Val1869Phe)
c.5332G>T (p.Val1778Phe)
c.4786G>T (p.Val1596Phe)
c.4513G>T (p.Val1505Phe)
c.3964G>T (p.Val1322Phe)
c.5878G>T (p.Val1960Phe)
c.5602G>T (p.Val1868Phe)
9g.115041004C=CA1874116332TNCc.521G=
c.3418G= (p.Val1140=)
c.4240G= (p.Val1414=)
c.2272G= (p.Val758=)
c.928G= (p.Val310=)
c.4287G=
c.5329G= (p.Val1777=)
c.4783G= (p.Val1595=)
c.4510G= (p.Val1504=)
n.456G=
n.243G=
c.1016G=
c.5056G= (p.Val1686=)
c.4237G= (p.Val1413=)
c.3691G= (p.Val1231=)
c.5605G= (p.Val1869=)
c.5332G= (p.Val1778=)
c.4786G= (p.Val1596=)
c.4513G= (p.Val1505=)
c.3964G= (p.Val1322=)
c.5878G= (p.Val1960=)
c.5602G= (p.Val1868=)
9g.115041004C>GCA374629272TNCc.521G>C
c.3418G>C (p.Val1140Leu)
c.4240G>C (p.Val1414Leu)
c.2272G>C (p.Val758Leu)
c.928G>C (p.Val310Leu)
c.4287G>C
c.5329G>C (p.Val1777Leu)
c.4783G>C (p.Val1595Leu)
c.4510G>C (p.Val1504Leu)
n.456G>C
n.243G>C
c.1016G>C
c.5056G>C (p.Val1686Leu)
c.4237G>C (p.Val1413Leu)
c.3691G>C (p.Val1231Leu)
c.5605G>C (p.Val1869Leu)
c.5332G>C (p.Val1778Leu)
c.4786G>C (p.Val1596Leu)
c.4513G>C (p.Val1505Leu)
c.3964G>C (p.Val1322Leu)
c.5878G>C (p.Val1960Leu)
c.5602G>C (p.Val1868Leu)
9g.115041004C>TCA374629270TNCc.521G>A
c.3418G>A (p.Val1140Ile)
c.4240G>A (p.Val1414Ile)
c.2272G>A (p.Val758Ile)
c.928G>A (p.Val310Ile)
c.4287G>A
c.5329G>A (p.Val1777Ile)
c.4783G>A (p.Val1595Ile)
c.4510G>A (p.Val1504Ile)
n.456G>A
n.243G>A
c.1016G>A
c.5056G>A (p.Val1686Ile)
c.4237G>A (p.Val1413Ile)
c.3691G>A (p.Val1231Ile)
c.5605G>A (p.Val1869Ile)
c.5332G>A (p.Val1778Ile)
c.4786G>A (p.Val1596Ile)
c.4513G>A (p.Val1505Ile)
c.3964G>A (p.Val1322Ile)
c.5878G>A (p.Val1960Ile)
c.5602G>A (p.Val1868Ile)
 dbSNP gnomAD v4
9g.115041005A>CCA466790985TNCc.520T>G
c.3417T>G (p.Leu1139=)
c.4239T>G (p.Leu1413=)
c.2271T>G (p.Leu757=)
c.927T>G (p.Leu309=)
c.4286T>G
c.5328T>G (p.Leu1776=)
c.4782T>G (p.Leu1594=)
c.4509T>G (p.Leu1503=)
n.455T>G
n.242T>G
c.1015T>G
c.5055T>G (p.Leu1685=)
c.4236T>G (p.Leu1412=)
c.3690T>G (p.Leu1230=)
c.5604T>G (p.Leu1868=)
c.5331T>G (p.Leu1777=)
c.4785T>G (p.Leu1595=)
c.4512T>G (p.Leu1504=)
c.3963T>G (p.Leu1321=)
c.5877T>G (p.Leu1959=)
c.5601T>G (p.Leu1867=)
9g.115041005A>GCA466790986TNCc.520T>C
c.3417T>C (p.Leu1139=)
c.4239T>C (p.Leu1413=)
c.2271T>C (p.Leu757=)
c.927T>C (p.Leu309=)
c.4286T>C
c.5328T>C (p.Leu1776=)
c.4782T>C (p.Leu1594=)
c.4509T>C (p.Leu1503=)
n.455T>C
n.242T>C
c.1015T>C
c.5055T>C (p.Leu1685=)
c.4236T>C (p.Leu1412=)
c.3690T>C (p.Leu1230=)
c.5604T>C (p.Leu1868=)
c.5331T>C (p.Leu1777=)
c.4785T>C (p.Leu1595=)
c.4512T>C (p.Leu1504=)
c.3963T>C (p.Leu1321=)
c.5877T>C (p.Leu1959=)
c.5601T>C (p.Leu1867=)
9g.115041005A>TCA466790987TNCc.520T>A
c.3417T>A (p.Leu1139=)
c.4239T>A (p.Leu1413=)
c.2271T>A (p.Leu757=)
c.927T>A (p.Leu309=)
c.4286T>A
c.5328T>A (p.Leu1776=)
c.4782T>A (p.Leu1594=)
c.4509T>A (p.Leu1503=)
n.455T>A
n.242T>A
c.1015T>A
c.5055T>A (p.Leu1685=)
c.4236T>A (p.Leu1412=)
c.3690T>A (p.Leu1230=)
c.5604T>A (p.Leu1868=)
c.5331T>A (p.Leu1777=)
c.4785T>A (p.Leu1595=)
c.4512T>A (p.Leu1504=)
c.3963T>A (p.Leu1321=)
c.5877T>A (p.Leu1959=)
c.5601T>A (p.Leu1867=)
9g.115041006A=CA1874116333TNCc.519T=
c.3416T= (p.Leu1139=)
c.4238T= (p.Leu1413=)
c.2270T= (p.Leu757=)
c.926T= (p.Leu309=)
c.4285T=
c.5327T= (p.Leu1776=)
c.4781T= (p.Leu1594=)
c.4508T= (p.Leu1503=)
n.454T=
n.241T=
c.1014T=
c.5054T= (p.Leu1685=)
c.4235T= (p.Leu1412=)
c.3689T= (p.Leu1230=)
c.5603T= (p.Leu1868=)
c.5330T= (p.Leu1777=)
c.4784T= (p.Leu1595=)
c.4511T= (p.Leu1504=)
c.3962T= (p.Leu1321=)
c.5876T= (p.Leu1959=)
c.5600T= (p.Leu1867=)
9g.115041006A>CCA374629273TNCc.519T>G
c.3416T>G (p.Leu1139Arg)
c.4238T>G (p.Leu1413Arg)
c.2270T>G (p.Leu757Arg)
c.926T>G (p.Leu309Arg)
c.4285T>G
c.5327T>G (p.Leu1776Arg)
c.4781T>G (p.Leu1594Arg)
c.4508T>G (p.Leu1503Arg)
n.454T>G
n.241T>G
c.1014T>G
c.5054T>G (p.Leu1685Arg)
c.4235T>G (p.Leu1412Arg)
c.3689T>G (p.Leu1230Arg)
c.5603T>G (p.Leu1868Arg)
c.5330T>G (p.Leu1777Arg)
c.4784T>G (p.Leu1595Arg)
c.4511T>G (p.Leu1504Arg)
c.3962T>G (p.Leu1321Arg)
c.5876T>G (p.Leu1959Arg)
c.5600T>G (p.Leu1867Arg)
 dbSNP gnomAD v4
9g.115041006A>GCA374629275TNCc.519T>C
c.3416T>C (p.Leu1139Pro)
c.4238T>C (p.Leu1413Pro)
c.2270T>C (p.Leu757Pro)
c.926T>C (p.Leu309Pro)
c.4285T>C
c.5327T>C (p.Leu1776Pro)
c.4781T>C (p.Leu1594Pro)
c.4508T>C (p.Leu1503Pro)
n.454T>C
n.241T>C
c.1014T>C
c.5054T>C (p.Leu1685Pro)
c.4235T>C (p.Leu1412Pro)
c.3689T>C (p.Leu1230Pro)
c.5603T>C (p.Leu1868Pro)
c.5330T>C (p.Leu1777Pro)
c.4784T>C (p.Leu1595Pro)
c.4511T>C (p.Leu1504Pro)
c.3962T>C (p.Leu1321Pro)
c.5876T>C (p.Leu1959Pro)
c.5600T>C (p.Leu1867Pro)
9g.115041006A>TCA374629277TNCc.519T>A
c.3416T>A (p.Leu1139His)
c.4238T>A (p.Leu1413His)
c.2270T>A (p.Leu757His)
c.926T>A (p.Leu309His)
c.4285T>A
c.5327T>A (p.Leu1776His)
c.4781T>A (p.Leu1594His)
c.4508T>A (p.Leu1503His)
n.454T>A
n.241T>A
c.1014T>A
c.5054T>A (p.Leu1685His)
c.4235T>A (p.Leu1412His)
c.3689T>A (p.Leu1230His)
c.5603T>A (p.Leu1868His)
c.5330T>A (p.Leu1777His)
c.4784T>A (p.Leu1595His)
c.4511T>A (p.Leu1504His)
c.3962T>A (p.Leu1321His)
c.5876T>A (p.Leu1959His)
c.5600T>A (p.Leu1867His)
9g.115041007G>ACA374629279TNCc.518C>T
c.3415C>T (p.Leu1139Phe)
c.4237C>T (p.Leu1413Phe)
c.2269C>T (p.Leu757Phe)
c.925C>T (p.Leu309Phe)
c.4284C>T
c.5326C>T (p.Leu1776Phe)
c.4780C>T (p.Leu1594Phe)
c.4507C>T (p.Leu1503Phe)
n.453C>T
n.240C>T
c.1013C>T
c.5053C>T (p.Leu1685Phe)
c.4234C>T (p.Leu1412Phe)
c.3688C>T (p.Leu1230Phe)
c.5602C>T (p.Leu1868Phe)
c.5329C>T (p.Leu1777Phe)
c.4783C>T (p.Leu1595Phe)
c.4510C>T (p.Leu1504Phe)
c.3961C>T (p.Leu1321Phe)
c.5875C>T (p.Leu1959Phe)
c.5599C>T (p.Leu1867Phe)
 gnomAD v4
9g.115041007G>CCA374629281TNCc.518C>G
c.3415C>G (p.Leu1139Val)
c.4237C>G (p.Leu1413Val)
c.2269C>G (p.Leu757Val)
c.925C>G (p.Leu309Val)
c.4284C>G
c.5326C>G (p.Leu1776Val)
c.4780C>G (p.Leu1594Val)
c.4507C>G (p.Leu1503Val)
n.453C>G
n.240C>G
c.1013C>G
c.5053C>G (p.Leu1685Val)
c.4234C>G (p.Leu1412Val)
c.3688C>G (p.Leu1230Val)
c.5602C>G (p.Leu1868Val)
c.5329C>G (p.Leu1777Val)
c.4783C>G (p.Leu1595Val)
c.4510C>G (p.Leu1504Val)
c.3961C>G (p.Leu1321Val)
c.5875C>G (p.Leu1959Val)
c.5599C>G (p.Leu1867Val)
9g.115041007G=CA1874116334TNCc.518C=
c.3415C= (p.Leu1139=)
c.4237C= (p.Leu1413=)
c.2269C= (p.Leu757=)
c.925C= (p.Leu309=)
c.4284C=
c.5326C= (p.Leu1776=)
c.4780C= (p.Leu1594=)
c.4507C= (p.Leu1503=)
n.453C=
n.240C=
c.1013C=
c.5053C= (p.Leu1685=)
c.4234C= (p.Leu1412=)
c.3688C= (p.Leu1230=)
c.5602C= (p.Leu1868=)
c.5329C= (p.Leu1777=)
c.4783C= (p.Leu1595=)
c.4510C= (p.Leu1504=)
c.3961C= (p.Leu1321=)
c.5875C= (p.Leu1959=)
c.5599C= (p.Leu1867=)
9g.115041007G>TCA374629282TNCc.518C>A
c.3415C>A (p.Leu1139Ile)
c.4237C>A (p.Leu1413Ile)
c.2269C>A (p.Leu757Ile)
c.925C>A (p.Leu309Ile)
c.4284C>A
c.5326C>A (p.Leu1776Ile)
c.4780C>A (p.Leu1594Ile)
c.4507C>A (p.Leu1503Ile)
n.453C>A
n.240C>A
c.1013C>A
c.5053C>A (p.Leu1685Ile)
c.4234C>A (p.Leu1412Ile)
c.3688C>A (p.Leu1230Ile)
c.5602C>A (p.Leu1868Ile)
c.5329C>A (p.Leu1777Ile)
c.4783C>A (p.Leu1595Ile)
c.4510C>A (p.Leu1504Ile)
c.3961C>A (p.Leu1321Ile)
c.5875C>A (p.Leu1959Ile)
c.5599C>A (p.Leu1867Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115041007_115041009delCA2691396745TNCc.516_518del
c.3413_3415del (p.Tyr1138_Leu1139delinsPhe)
c.4235_4237del (p.Tyr1412_Leu1413delinsPhe)
c.2267_2269del (p.Tyr756_Leu757delinsPhe)
c.923_925del (p.Tyr308_Leu309delinsPhe)
c.4282_4284del
c.5324_5326del (p.Tyr1775_Leu1776delinsPhe)
c.4778_4780del (p.Tyr1593_Leu1594delinsPhe)
c.4505_4507del (p.Tyr1502_Leu1503delinsPhe)
n.451_453del
n.238_240del
c.1011_1013del
c.5051_5053del (p.Tyr1684_Leu1685delinsPhe)
c.4232_4234del (p.Tyr1411_Leu1412delinsPhe)
c.3686_3688del (p.Tyr1229_Leu1230delinsPhe)
c.5600_5602del (p.Tyr1867_Leu1868delinsPhe)
c.5327_5329del (p.Tyr1776_Leu1777delinsPhe)
c.4781_4783del (p.Tyr1594_Leu1595delinsPhe)
c.4508_4510del (p.Tyr1503_Leu1504delinsPhe)
c.3959_3961del (p.Tyr1320_Leu1321delinsPhe)
c.5873_5875del (p.Tyr1958_Leu1959delinsPhe)
c.5597_5599del (p.Tyr1866_Leu1867delinsPhe)
 gnomAD v4
9g.115041008G>ACA466790988TNCc.517C>T
c.3414C>T (p.Tyr1138=)
c.4236C>T (p.Tyr1412=)
c.2268C>T (p.Tyr756=)
c.924C>T (p.Tyr308=)
c.4283C>T
c.5325C>T (p.Tyr1775=)
c.4779C>T (p.Tyr1593=)
c.4506C>T (p.Tyr1502=)
n.452C>T
n.239C>T
c.1012C>T
c.5052C>T (p.Tyr1684=)
c.4233C>T (p.Tyr1411=)
c.3687C>T (p.Tyr1229=)
c.5601C>T (p.Tyr1867=)
c.5328C>T (p.Tyr1776=)
c.4782C>T (p.Tyr1594=)
c.4509C>T (p.Tyr1503=)
c.3960C>T (p.Tyr1320=)
c.5874C>T (p.Tyr1958=)
c.5598C>T (p.Tyr1866=)
 gnomAD v4
9g.115041008G>CCA374629287TNCc.517C>G
c.3414C>G (p.Tyr1138Ter)
c.4236C>G (p.Tyr1412Ter)
c.2268C>G (p.Tyr756Ter)
c.924C>G (p.Tyr308Ter)
c.4283C>G
c.5325C>G (p.Tyr1775Ter)
c.4779C>G (p.Tyr1593Ter)
c.4506C>G (p.Tyr1502Ter)
n.452C>G
n.239C>G
c.1012C>G
c.5052C>G (p.Tyr1684Ter)
c.4233C>G (p.Tyr1411Ter)
c.3687C>G (p.Tyr1229Ter)
c.5601C>G (p.Tyr1867Ter)
c.5328C>G (p.Tyr1776Ter)
c.4782C>G (p.Tyr1594Ter)
c.4509C>G (p.Tyr1503Ter)
c.3960C>G (p.Tyr1320Ter)
c.5874C>G (p.Tyr1958Ter)
c.5598C>G (p.Tyr1866Ter)
9g.115041008G=CA1874116335TNCc.517C=
c.3414C= (p.Tyr1138=)
c.4236C= (p.Tyr1412=)
c.2268C= (p.Tyr756=)
c.924C= (p.Tyr308=)
c.4283C=
c.5325C= (p.Tyr1775=)
c.4779C= (p.Tyr1593=)
c.4506C= (p.Tyr1502=)
n.452C=
n.239C=
c.1012C=
c.5052C= (p.Tyr1684=)
c.4233C= (p.Tyr1411=)
c.3687C= (p.Tyr1229=)
c.5601C= (p.Tyr1867=)
c.5328C= (p.Tyr1776=)
c.4782C= (p.Tyr1594=)
c.4509C= (p.Tyr1503=)
c.3960C= (p.Tyr1320=)
c.5874C= (p.Tyr1958=)
c.5598C= (p.Tyr1866=)
9g.115041008G>TCA374629285TNCc.517C>A
c.3414C>A (p.Tyr1138Ter)
c.4236C>A (p.Tyr1412Ter)
c.2268C>A (p.Tyr756Ter)
c.924C>A (p.Tyr308Ter)
c.4283C>A
c.5325C>A (p.Tyr1775Ter)
c.4779C>A (p.Tyr1593Ter)
c.4506C>A (p.Tyr1502Ter)
n.452C>A
n.239C>A
c.1012C>A
c.5052C>A (p.Tyr1684Ter)
c.4233C>A (p.Tyr1411Ter)
c.3687C>A (p.Tyr1229Ter)
c.5601C>A (p.Tyr1867Ter)
c.5328C>A (p.Tyr1776Ter)
c.4782C>A (p.Tyr1594Ter)
c.4509C>A (p.Tyr1503Ter)
c.3960C>A (p.Tyr1320Ter)
c.5874C>A (p.Tyr1958Ter)
c.5598C>A (p.Tyr1866Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.115041009T>ACA374629290TNCc.516A>T
c.3413A>T (p.Tyr1138Phe)
c.4235A>T (p.Tyr1412Phe)
c.2267A>T (p.Tyr756Phe)
c.923A>T (p.Tyr308Phe)
c.4282A>T
c.5324A>T (p.Tyr1775Phe)
c.4778A>T (p.Tyr1593Phe)
c.4505A>T (p.Tyr1502Phe)
n.451A>T
n.238A>T
c.1011A>T
c.5051A>T (p.Tyr1684Phe)
c.4232A>T (p.Tyr1411Phe)
c.3686A>T (p.Tyr1229Phe)
c.5600A>T (p.Tyr1867Phe)
c.5327A>T (p.Tyr1776Phe)
c.4781A>T (p.Tyr1594Phe)
c.4508A>T (p.Tyr1503Phe)
c.3959A>T (p.Tyr1320Phe)
c.5873A>T (p.Tyr1958Phe)
c.5597A>T (p.Tyr1866Phe)
 COSMIC
9g.115041009T>CCA374629292TNCc.516A>G
c.3413A>G (p.Tyr1138Cys)
c.4235A>G (p.Tyr1412Cys)
c.2267A>G (p.Tyr756Cys)
c.923A>G (p.Tyr308Cys)
c.4282A>G
c.5324A>G (p.Tyr1775Cys)
c.4778A>G (p.Tyr1593Cys)
c.4505A>G (p.Tyr1502Cys)
n.451A>G
n.238A>G
c.1011A>G
c.5051A>G (p.Tyr1684Cys)
c.4232A>G (p.Tyr1411Cys)
c.3686A>G (p.Tyr1229Cys)
c.5600A>G (p.Tyr1867Cys)
c.5327A>G (p.Tyr1776Cys)
c.4781A>G (p.Tyr1594Cys)
c.4508A>G (p.Tyr1503Cys)
c.3959A>G (p.Tyr1320Cys)
c.5873A>G (p.Tyr1958Cys)
c.5597A>G (p.Tyr1866Cys)
 dbSNP
9g.115041009T>GCA374629293TNCc.516A>C
c.3413A>C (p.Tyr1138Ser)
c.4235A>C (p.Tyr1412Ser)
c.2267A>C (p.Tyr756Ser)
c.923A>C (p.Tyr308Ser)
c.4282A>C
c.5324A>C (p.Tyr1775Ser)
c.4778A>C (p.Tyr1593Ser)
c.4505A>C (p.Tyr1502Ser)
n.451A>C
n.238A>C
c.1011A>C
c.5051A>C (p.Tyr1684Ser)
c.4232A>C (p.Tyr1411Ser)
c.3686A>C (p.Tyr1229Ser)
c.5600A>C (p.Tyr1867Ser)
c.5327A>C (p.Tyr1776Ser)
c.4781A>C (p.Tyr1594Ser)
c.4508A>C (p.Tyr1503Ser)
c.3959A>C (p.Tyr1320Ser)
c.5873A>C (p.Tyr1958Ser)
c.5597A>C (p.Tyr1866Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.115041009T=CA1874116336TNCc.516A=
c.3413A= (p.Tyr1138=)
c.4235A= (p.Tyr1412=)
c.2267A= (p.Tyr756=)
c.923A= (p.Tyr308=)
c.4282A=
c.5324A= (p.Tyr1775=)
c.4778A= (p.Tyr1593=)
c.4505A= (p.Tyr1502=)
n.451A=
n.238A=
c.1011A=
c.5051A= (p.Tyr1684=)
c.4232A= (p.Tyr1411=)
c.3686A= (p.Tyr1229=)
c.5600A= (p.Tyr1867=)
c.5327A= (p.Tyr1776=)
c.4781A= (p.Tyr1594=)
c.4508A= (p.Tyr1503=)
c.3959A= (p.Tyr1320=)
c.5873A= (p.Tyr1958=)
c.5597A= (p.Tyr1866=)
9g.115041010A>CCA374629296TNCc.515T>G
c.3412T>G (p.Tyr1138Asp)
c.4234T>G (p.Tyr1412Asp)
c.2266T>G (p.Tyr756Asp)
c.922T>G (p.Tyr308Asp)
c.4281T>G
c.5323T>G (p.Tyr1775Asp)
c.4777T>G (p.Tyr1593Asp)
c.4504T>G (p.Tyr1502Asp)
n.450T>G
n.237T>G
c.1010T>G
c.5050T>G (p.Tyr1684Asp)
c.4231T>G (p.Tyr1411Asp)
c.3685T>G (p.Tyr1229Asp)
c.5599T>G (p.Tyr1867Asp)
c.5326T>G (p.Tyr1776Asp)
c.4780T>G (p.Tyr1594Asp)
c.4507T>G (p.Tyr1503Asp)
c.3958T>G (p.Tyr1320Asp)
c.5872T>G (p.Tyr1958Asp)
c.5596T>G (p.Tyr1866Asp)
9g.115041010A>GCA374629297TNCc.515T>C
c.3412T>C (p.Tyr1138His)
c.4234T>C (p.Tyr1412His)
c.2266T>C (p.Tyr756His)
c.922T>C (p.Tyr308His)
c.4281T>C
c.5323T>C (p.Tyr1775His)
c.4777T>C (p.Tyr1593His)
c.4504T>C (p.Tyr1502His)
n.450T>C
n.237T>C
c.1010T>C
c.5050T>C (p.Tyr1684His)
c.4231T>C (p.Tyr1411His)
c.3685T>C (p.Tyr1229His)
c.5599T>C (p.Tyr1867His)
c.5326T>C (p.Tyr1776His)
c.4780T>C (p.Tyr1594His)
c.4507T>C (p.Tyr1503His)
c.3958T>C (p.Tyr1320His)
c.5872T>C (p.Tyr1958His)
c.5596T>C (p.Tyr1866His)
 gnomAD v4
9g.115041010A>TCA374629299TNCc.515T>A
c.3412T>A (p.Tyr1138Asn)
c.4234T>A (p.Tyr1412Asn)
c.2266T>A (p.Tyr756Asn)
c.922T>A (p.Tyr308Asn)
c.4281T>A
c.5323T>A (p.Tyr1775Asn)
c.4777T>A (p.Tyr1593Asn)
c.4504T>A (p.Tyr1502Asn)
n.450T>A
n.237T>A
c.1010T>A
c.5050T>A (p.Tyr1684Asn)
c.4231T>A (p.Tyr1411Asn)
c.3685T>A (p.Tyr1229Asn)
c.5599T>A (p.Tyr1867Asn)
c.5326T>A (p.Tyr1776Asn)
c.4780T>A (p.Tyr1594Asn)
c.4507T>A (p.Tyr1503Asn)
c.3958T>A (p.Tyr1320Asn)
c.5872T>A (p.Tyr1958Asn)
c.5596T>A (p.Tyr1866Asn)
9g.115041011C>ACA374629302TNCc.514G>T
c.3411G>T (p.Glu1137Asp)
c.4233G>T (p.Glu1411Asp)
c.2265G>T (p.Glu755Asp)
c.921G>T (p.Glu307Asp)
c.4280G>T
c.5322G>T (p.Glu1774Asp)
c.4776G>T (p.Glu1592Asp)
c.4503G>T (p.Glu1501Asp)
n.449G>T
n.236G>T
c.1009G>T
c.5049G>T (p.Glu1683Asp)
c.4230G>T (p.Glu1410Asp)
c.3684G>T (p.Glu1228Asp)
c.5598G>T (p.Glu1866Asp)
c.5325G>T (p.Glu1775Asp)
c.4779G>T (p.Glu1593Asp)
c.4506G>T (p.Glu1502Asp)
c.3957G>T (p.Glu1319Asp)
c.5871G>T (p.Glu1957Asp)
c.5595G>T (p.Glu1865Asp)
9g.115041011C=CA1874116337TNCc.514G=
c.3411G= (p.Glu1137=)
c.4233G= (p.Glu1411=)
c.2265G= (p.Glu755=)
c.921G= (p.Glu307=)
c.4280G=
c.5322G= (p.Glu1774=)
c.4776G= (p.Glu1592=)
c.4503G= (p.Glu1501=)
n.449G=
n.236G=
c.1009G=
c.5049G= (p.Glu1683=)
c.4230G= (p.Glu1410=)
c.3684G= (p.Glu1228=)
c.5598G= (p.Glu1866=)
c.5325G= (p.Glu1775=)
c.4779G= (p.Glu1593=)
c.4506G= (p.Glu1502=)
c.3957G= (p.Glu1319=)
c.5871G= (p.Glu1957=)
c.5595G= (p.Glu1865=)
9g.115041011C>GCA5207688TNCc.514G>C
c.3411G>C (p.Glu1137Asp)
c.4233G>C (p.Glu1411Asp)
c.2265G>C (p.Glu755Asp)
c.921G>C (p.Glu307Asp)
c.4280G>C
c.5322G>C (p.Glu1774Asp)
c.4776G>C (p.Glu1592Asp)
c.4503G>C (p.Glu1501Asp)
n.449G>C
n.236G>C
c.1009G>C
c.5049G>C (p.Glu1683Asp)
c.4230G>C (p.Glu1410Asp)
c.3684G>C (p.Glu1228Asp)
c.5598G>C (p.Glu1866Asp)
c.5325G>C (p.Glu1775Asp)
c.4779G>C (p.Glu1593Asp)
c.4506G>C (p.Glu1502Asp)
c.3957G>C (p.Glu1319Asp)
c.5871G>C (p.Glu1957Asp)
c.5595G>C (p.Glu1865Asp)
 dbSNP ExAC
9g.115041011C>TCA5207687TNCc.514G>A
c.3411G>A (p.Glu1137=)
c.4233G>A (p.Glu1411=)
c.2265G>A (p.Glu755=)
c.921G>A (p.Glu307=)
c.4280G>A
c.5322G>A (p.Glu1774=)
c.4776G>A (p.Glu1592=)
c.4503G>A (p.Glu1501=)
n.449G>A
n.236G>A
c.1009G>A
c.5049G>A (p.Glu1683=)
c.4230G>A (p.Glu1410=)
c.3684G>A (p.Glu1228=)
c.5598G>A (p.Glu1866=)
c.5325G>A (p.Glu1775=)
c.4779G>A (p.Glu1593=)
c.4506G>A (p.Glu1502=)
c.3957G>A (p.Glu1319=)
c.5871G>A (p.Glu1957=)
c.5595G>A (p.Glu1865=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041012T>ACA374629305TNCc.513A>T
c.3410A>T (p.Glu1137Val)
c.4232A>T (p.Glu1411Val)
c.2264A>T (p.Glu755Val)
c.920A>T (p.Glu307Val)
c.4279A>T
c.5321A>T (p.Glu1774Val)
c.4775A>T (p.Glu1592Val)
c.4502A>T (p.Glu1501Val)
n.448A>T
n.235A>T
c.1008A>T
c.5048A>T (p.Glu1683Val)
c.4229A>T (p.Glu1410Val)
c.3683A>T (p.Glu1228Val)
c.5597A>T (p.Glu1866Val)
c.5324A>T (p.Glu1775Val)
c.4778A>T (p.Glu1593Val)
c.4505A>T (p.Glu1502Val)
c.3956A>T (p.Glu1319Val)
c.5870A>T (p.Glu1957Val)
c.5594A>T (p.Glu1865Val)
9g.115041012T>CCA374629307TNCc.513A>G
c.3410A>G (p.Glu1137Gly)
c.4232A>G (p.Glu1411Gly)
c.2264A>G (p.Glu755Gly)
c.920A>G (p.Glu307Gly)
c.4279A>G
c.5321A>G (p.Glu1774Gly)
c.4775A>G (p.Glu1592Gly)
c.4502A>G (p.Glu1501Gly)
n.448A>G
n.235A>G
c.1008A>G
c.5048A>G (p.Glu1683Gly)
c.4229A>G (p.Glu1410Gly)
c.3683A>G (p.Glu1228Gly)
c.5597A>G (p.Glu1866Gly)
c.5324A>G (p.Glu1775Gly)
c.4778A>G (p.Glu1593Gly)
c.4505A>G (p.Glu1502Gly)
c.3956A>G (p.Glu1319Gly)
c.5870A>G (p.Glu1957Gly)
c.5594A>G (p.Glu1865Gly)
9g.115041012T>GCA374629308TNCc.513A>C
c.3410A>C (p.Glu1137Ala)
c.4232A>C (p.Glu1411Ala)
c.2264A>C (p.Glu755Ala)
c.920A>C (p.Glu307Ala)
c.4279A>C
c.5321A>C (p.Glu1774Ala)
c.4775A>C (p.Glu1592Ala)
c.4502A>C (p.Glu1501Ala)
n.448A>C
n.235A>C
c.1008A>C
c.5048A>C (p.Glu1683Ala)
c.4229A>C (p.Glu1410Ala)
c.3683A>C (p.Glu1228Ala)
c.5597A>C (p.Glu1866Ala)
c.5324A>C (p.Glu1775Ala)
c.4778A>C (p.Glu1593Ala)
c.4505A>C (p.Glu1502Ala)
c.3956A>C (p.Glu1319Ala)
c.5870A>C (p.Glu1957Ala)
c.5594A>C (p.Glu1865Ala)
9g.115041013C>ACA374629310TNCc.512G>T
c.3409G>T (p.Glu1137Ter)
c.4231G>T (p.Glu1411Ter)
c.2263G>T (p.Glu755Ter)
c.919G>T (p.Glu307Ter)
c.4278G>T
c.5320G>T (p.Glu1774Ter)
c.4774G>T (p.Glu1592Ter)
c.4501G>T (p.Glu1501Ter)
n.447G>T
n.234G>T
c.1007G>T
c.5047G>T (p.Glu1683Ter)
c.4228G>T (p.Glu1410Ter)
c.3682G>T (p.Glu1228Ter)
c.5596G>T (p.Glu1866Ter)
c.5323G>T (p.Glu1775Ter)
c.4777G>T (p.Glu1593Ter)
c.4504G>T (p.Glu1502Ter)
c.3955G>T (p.Glu1319Ter)
c.5869G>T (p.Glu1957Ter)
c.5593G>T (p.Glu1865Ter)
9g.115041013C>GCA374629312TNCc.512G>C
c.3409G>C (p.Glu1137Gln)
c.4231G>C (p.Glu1411Gln)
c.2263G>C (p.Glu755Gln)
c.919G>C (p.Glu307Gln)
c.4278G>C
c.5320G>C (p.Glu1774Gln)
c.4774G>C (p.Glu1592Gln)
c.4501G>C (p.Glu1501Gln)
n.447G>C
n.234G>C
c.1007G>C
c.5047G>C (p.Glu1683Gln)
c.4228G>C (p.Glu1410Gln)
c.3682G>C (p.Glu1228Gln)
c.5596G>C (p.Glu1866Gln)
c.5323G>C (p.Glu1775Gln)
c.4777G>C (p.Glu1593Gln)
c.4504G>C (p.Glu1502Gln)
c.3955G>C (p.Glu1319Gln)
c.5869G>C (p.Glu1957Gln)
c.5593G>C (p.Glu1865Gln)
9g.115041013C>TCA374629314TNCc.512G>A
c.3409G>A (p.Glu1137Lys)
c.4231G>A (p.Glu1411Lys)
c.2263G>A (p.Glu755Lys)
c.919G>A (p.Glu307Lys)
c.4278G>A
c.5320G>A (p.Glu1774Lys)
c.4774G>A (p.Glu1592Lys)
c.4501G>A (p.Glu1501Lys)
n.447G>A
n.234G>A
c.1007G>A
c.5047G>A (p.Glu1683Lys)
c.4228G>A (p.Glu1410Lys)
c.3682G>A (p.Glu1228Lys)
c.5596G>A (p.Glu1866Lys)
c.5323G>A (p.Glu1775Lys)
c.4777G>A (p.Glu1593Lys)
c.4504G>A (p.Glu1502Lys)
c.3955G>A (p.Glu1319Lys)
c.5869G>A (p.Glu1957Lys)
c.5593G>A (p.Glu1865Lys)
 COSMIC
9g.115041014C>ACA466790989TNCc.511G>T
c.3408G>T (p.Val1136=)
c.4230G>T (p.Val1410=)
c.2262G>T (p.Val754=)
c.918G>T (p.Val306=)
c.4277G>T
c.5319G>T (p.Val1773=)
c.4773G>T (p.Val1591=)
c.4500G>T (p.Val1500=)
n.446G>T
n.233G>T
c.1006G>T
c.5046G>T (p.Val1682=)
c.4227G>T (p.Val1409=)
c.3681G>T (p.Val1227=)
c.5595G>T (p.Val1865=)
c.5322G>T (p.Val1774=)
c.4776G>T (p.Val1592=)
c.4503G>T (p.Val1501=)
c.3954G>T (p.Val1318=)
c.5868G>T (p.Val1956=)
c.5592G>T (p.Val1864=)
9g.115041014C=CA1874116338TNCc.511G=
c.3408G= (p.Val1136=)
c.4230G= (p.Val1410=)
c.2262G= (p.Val754=)
c.918G= (p.Val306=)
c.4277G=
c.5319G= (p.Val1773=)
c.4773G= (p.Val1591=)
c.4500G= (p.Val1500=)
n.446G=
n.233G=
c.1006G=
c.5046G= (p.Val1682=)
c.4227G= (p.Val1409=)
c.3681G= (p.Val1227=)
c.5595G= (p.Val1865=)
c.5322G= (p.Val1774=)
c.4776G= (p.Val1592=)
c.4503G= (p.Val1501=)
c.3954G= (p.Val1318=)
c.5868G= (p.Val1956=)
c.5592G= (p.Val1864=)
9g.115041014C>GCA466790990TNCc.511G>C
c.3408G>C (p.Val1136=)
c.4230G>C (p.Val1410=)
c.2262G>C (p.Val754=)
c.918G>C (p.Val306=)
c.4277G>C
c.5319G>C (p.Val1773=)
c.4773G>C (p.Val1591=)
c.4500G>C (p.Val1500=)
n.446G>C
n.233G>C
c.1006G>C
c.5046G>C (p.Val1682=)
c.4227G>C (p.Val1409=)
c.3681G>C (p.Val1227=)
c.5595G>C (p.Val1865=)
c.5322G>C (p.Val1774=)
c.4776G>C (p.Val1592=)
c.4503G>C (p.Val1501=)
c.3954G>C (p.Val1318=)
c.5868G>C (p.Val1956=)
c.5592G>C (p.Val1864=)
9g.115041014C>TCA198685269TNCc.511G>A
c.3408G>A (p.Val1136=)
c.4230G>A (p.Val1410=)
c.2262G>A (p.Val754=)
c.918G>A (p.Val306=)
c.4277G>A
c.5319G>A (p.Val1773=)
c.4773G>A (p.Val1591=)
c.4500G>A (p.Val1500=)
n.446G>A
n.233G>A
c.1006G>A
c.5046G>A (p.Val1682=)
c.4227G>A (p.Val1409=)
c.3681G>A (p.Val1227=)
c.5595G>A (p.Val1865=)
c.5322G>A (p.Val1774=)
c.4776G>A (p.Val1592=)
c.4503G>A (p.Val1501=)
c.3954G>A (p.Val1318=)
c.5868G>A (p.Val1956=)
c.5592G>A (p.Val1864=)
 dbSNP
9g.115041015delCA2691396753TNCc.510del
c.3407del (p.Val1136GlyfsTer10)
c.4229del (p.Val1410GlyfsTer10)
c.2261del (p.Val754GlyfsTer10)
c.917del (p.Val306GlyfsTer10)
c.4276del
c.5318del (p.Val1773GlyfsTer10)
c.4772del (p.Val1591GlyfsTer10)
c.4499del (p.Val1500GlyfsTer10)
n.445del
n.232del
c.1005del
c.5045del (p.Val1682GlyfsTer10)
c.4226del (p.Val1409GlyfsTer10)
c.3680del (p.Val1227GlyfsTer10)
c.5594del (p.Val1865GlyfsTer10)
c.5321del (p.Val1774GlyfsTer10)
c.4775del (p.Val1592GlyfsTer10)
c.4502del (p.Val1501GlyfsTer10)
c.3953del (p.Val1318GlyfsTer10)
c.5867del (p.Val1956GlyfsTer10)
c.5591del (p.Val1864GlyfsTer10)
 gnomAD v4
9g.115041015A>CCA374629315TNCc.510T>G
c.3407T>G (p.Val1136Gly)
c.4229T>G (p.Val1410Gly)
c.2261T>G (p.Val754Gly)
c.917T>G (p.Val306Gly)
c.4276T>G
c.5318T>G (p.Val1773Gly)
c.4772T>G (p.Val1591Gly)
c.4499T>G (p.Val1500Gly)
n.445T>G
n.232T>G
c.1005T>G
c.5045T>G (p.Val1682Gly)
c.4226T>G (p.Val1409Gly)
c.3680T>G (p.Val1227Gly)
c.5594T>G (p.Val1865Gly)
c.5321T>G (p.Val1774Gly)
c.4775T>G (p.Val1592Gly)
c.4502T>G (p.Val1501Gly)
c.3953T>G (p.Val1318Gly)
c.5867T>G (p.Val1956Gly)
c.5591T>G (p.Val1864Gly)
9g.115041015A>GCA374629317TNCc.510T>C
c.3407T>C (p.Val1136Ala)
c.4229T>C (p.Val1410Ala)
c.2261T>C (p.Val754Ala)
c.917T>C (p.Val306Ala)
c.4276T>C
c.5318T>C (p.Val1773Ala)
c.4772T>C (p.Val1591Ala)
c.4499T>C (p.Val1500Ala)
n.445T>C
n.232T>C
c.1005T>C
c.5045T>C (p.Val1682Ala)
c.4226T>C (p.Val1409Ala)
c.3680T>C (p.Val1227Ala)
c.5594T>C (p.Val1865Ala)
c.5321T>C (p.Val1774Ala)
c.4775T>C (p.Val1592Ala)
c.4502T>C (p.Val1501Ala)
c.3953T>C (p.Val1318Ala)
c.5867T>C (p.Val1956Ala)
c.5591T>C (p.Val1864Ala)
9g.115041015A>TCA374629319TNCc.510T>A
c.3407T>A (p.Val1136Glu)
c.4229T>A (p.Val1410Glu)
c.2261T>A (p.Val754Glu)
c.917T>A (p.Val306Glu)
c.4276T>A
c.5318T>A (p.Val1773Glu)
c.4772T>A (p.Val1591Glu)
c.4499T>A (p.Val1500Glu)
n.445T>A
n.232T>A
c.1005T>A
c.5045T>A (p.Val1682Glu)
c.4226T>A (p.Val1409Glu)
c.3680T>A (p.Val1227Glu)
c.5594T>A (p.Val1865Glu)
c.5321T>A (p.Val1774Glu)
c.4775T>A (p.Val1592Glu)
c.4502T>A (p.Val1501Glu)
c.3953T>A (p.Val1318Glu)
c.5867T>A (p.Val1956Glu)
c.5591T>A (p.Val1864Glu)
9g.115041016C>ACA374629321TNCc.509G>T
c.3406G>T (p.Val1136Leu)
c.4228G>T (p.Val1410Leu)
c.2260G>T (p.Val754Leu)
c.916G>T (p.Val306Leu)
c.4275G>T
c.5317G>T (p.Val1773Leu)
c.4771G>T (p.Val1591Leu)
c.4498G>T (p.Val1500Leu)
n.444G>T
n.231G>T
c.1004G>T
c.5044G>T (p.Val1682Leu)
c.4225G>T (p.Val1409Leu)
c.3679G>T (p.Val1227Leu)
c.5593G>T (p.Val1865Leu)
c.5320G>T (p.Val1774Leu)
c.4774G>T (p.Val1592Leu)
c.4501G>T (p.Val1501Leu)
c.3952G>T (p.Val1318Leu)
c.5866G>T (p.Val1956Leu)
c.5590G>T (p.Val1864Leu)
9g.115041016C=CA1874116339TNCc.509G=
c.3406G= (p.Val1136=)
c.4228G= (p.Val1410=)
c.2260G= (p.Val754=)
c.916G= (p.Val306=)
c.4275G=
c.5317G= (p.Val1773=)
c.4771G= (p.Val1591=)
c.4498G= (p.Val1500=)
n.444G=
n.231G=
c.1004G=
c.5044G= (p.Val1682=)
c.4225G= (p.Val1409=)
c.3679G= (p.Val1227=)
c.5593G= (p.Val1865=)
c.5320G= (p.Val1774=)
c.4774G= (p.Val1592=)
c.4501G= (p.Val1501=)
c.3952G= (p.Val1318=)
c.5866G= (p.Val1956=)
c.5590G= (p.Val1864=)
9g.115041016C>GCA374629323TNCc.509G>C
c.3406G>C (p.Val1136Leu)
c.4228G>C (p.Val1410Leu)
c.2260G>C (p.Val754Leu)
c.916G>C (p.Val306Leu)
c.4275G>C
c.5317G>C (p.Val1773Leu)
c.4771G>C (p.Val1591Leu)
c.4498G>C (p.Val1500Leu)
n.444G>C
n.231G>C
c.1004G>C
c.5044G>C (p.Val1682Leu)
c.4225G>C (p.Val1409Leu)
c.3679G>C (p.Val1227Leu)
c.5593G>C (p.Val1865Leu)
c.5320G>C (p.Val1774Leu)
c.4774G>C (p.Val1592Leu)
c.4501G>C (p.Val1501Leu)
c.3952G>C (p.Val1318Leu)
c.5866G>C (p.Val1956Leu)
c.5590G>C (p.Val1864Leu)
9g.115041016C>TCA149711TNCc.509G>A
c.3406G>A (p.Val1136Met)
c.4228G>A (p.Val1410Met)
c.2260G>A (p.Val754Met)
c.916G>A (p.Val306Met)
c.4275G>A
c.5317G>A (p.Val1773Met)
c.4771G>A (p.Val1591Met)
c.4498G>A (p.Val1500Met)
n.444G>A
n.231G>A
c.1004G>A
c.5044G>A (p.Val1682Met)
c.4225G>A (p.Val1409Met)
c.3679G>A (p.Val1227Met)
c.5593G>A (p.Val1865Met)
c.5320G>A (p.Val1774Met)
c.4774G>A (p.Val1592Met)
c.4501G>A (p.Val1501Met)
c.3952G>A (p.Val1318Met)
c.5866G>A (p.Val1956Met)
c.5590G>A (p.Val1864Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041017G>ACA5207689TNCc.508C>T
c.3405C>T (p.Gly1135=)
c.4227C>T (p.Gly1409=)
c.2259C>T (p.Gly753=)
c.915C>T (p.Gly305=)
c.4274C>T
c.5316C>T (p.Gly1772=)
c.4770C>T (p.Gly1590=)
c.4497C>T (p.Gly1499=)
n.443C>T
n.230C>T
c.1003C>T
c.5043C>T (p.Gly1681=)
c.4224C>T (p.Gly1408=)
c.3678C>T (p.Gly1226=)
c.5592C>T (p.Gly1864=)
c.5319C>T (p.Gly1773=)
c.4773C>T (p.Gly1591=)
c.4500C>T (p.Gly1500=)
c.3951C>T (p.Gly1317=)
c.5865C>T (p.Gly1955=)
c.5589C>T (p.Gly1863=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115041017G>CCA466790991TNCc.508C>G
c.3405C>G (p.Gly1135=)
c.4227C>G (p.Gly1409=)
c.2259C>G (p.Gly753=)
c.915C>G (p.Gly305=)
c.4274C>G
c.5316C>G (p.Gly1772=)
c.4770C>G (p.Gly1590=)
c.4497C>G (p.Gly1499=)
n.443C>G
n.230C>G
c.1003C>G
c.5043C>G (p.Gly1681=)
c.4224C>G (p.Gly1408=)
c.3678C>G (p.Gly1226=)
c.5592C>G (p.Gly1864=)
c.5319C>G (p.Gly1773=)
c.4773C>G (p.Gly1591=)
c.4500C>G (p.Gly1500=)
c.3951C>G (p.Gly1317=)
c.5865C>G (p.Gly1955=)
c.5589C>G (p.Gly1863=)
9g.115041017G=CA1874116341TNCc.508C=
c.3405C= (p.Gly1135=)
c.4227C= (p.Gly1409=)
c.2259C= (p.Gly753=)
c.915C= (p.Gly305=)
c.4274C=
c.5316C= (p.Gly1772=)
c.4770C= (p.Gly1590=)
c.4497C= (p.Gly1499=)
n.443C=
n.230C=
c.1003C=
c.5043C= (p.Gly1681=)
c.4224C= (p.Gly1408=)
c.3678C= (p.Gly1226=)
c.5592C= (p.Gly1864=)
c.5319C= (p.Gly1773=)
c.4773C= (p.Gly1591=)
c.4500C= (p.Gly1500=)
c.3951C= (p.Gly1317=)
c.5865C= (p.Gly1955=)
c.5589C= (p.Gly1863=)
9g.115041017G>TCA466790992TNCc.508C>A
c.3405C>A (p.Gly1135=)
c.4227C>A (p.Gly1409=)
c.2259C>A (p.Gly753=)
c.915C>A (p.Gly305=)
c.4274C>A
c.5316C>A (p.Gly1772=)
c.4770C>A (p.Gly1590=)
c.4497C>A (p.Gly1499=)
n.443C>A
n.230C>A
c.1003C>A
c.5043C>A (p.Gly1681=)
c.4224C>A (p.Gly1408=)
c.3678C>A (p.Gly1226=)
c.5592C>A (p.Gly1864=)
c.5319C>A (p.Gly1773=)
c.4773C>A (p.Gly1591=)
c.4500C>A (p.Gly1500=)
c.3951C>A (p.Gly1317=)
c.5865C>A (p.Gly1955=)
c.5589C>A (p.Gly1863=)
9g.115041018C>ACA374629329TNCc.507G>T
c.3404G>T (p.Gly1135Val)
c.4226G>T (p.Gly1409Val)
c.2258G>T (p.Gly753Val)
c.914G>T (p.Gly305Val)
c.4273G>T
c.5315G>T (p.Gly1772Val)
c.4769G>T (p.Gly1590Val)
c.4496G>T (p.Gly1499Val)
n.442G>T
n.229G>T
c.1002G>T
c.5042G>T (p.Gly1681Val)
c.4223G>T (p.Gly1408Val)
c.3677G>T (p.Gly1226Val)
c.5591G>T (p.Gly1864Val)
c.5318G>T (p.Gly1773Val)
c.4772G>T (p.Gly1591Val)
c.4499G>T (p.Gly1500Val)
c.3950G>T (p.Gly1317Val)
c.5864G>T (p.Gly1955Val)
c.5588G>T (p.Gly1863Val)
9g.115041018C>GCA374629327TNCc.507G>C
c.3404G>C (p.Gly1135Ala)
c.4226G>C (p.Gly1409Ala)
c.2258G>C (p.Gly753Ala)
c.914G>C (p.Gly305Ala)
c.4273G>C
c.5315G>C (p.Gly1772Ala)
c.4769G>C (p.Gly1590Ala)
c.4496G>C (p.Gly1499Ala)
n.442G>C
n.229G>C
c.1002G>C
c.5042G>C (p.Gly1681Ala)
c.4223G>C (p.Gly1408Ala)
c.3677G>C (p.Gly1226Ala)
c.5591G>C (p.Gly1864Ala)
c.5318G>C (p.Gly1773Ala)
c.4772G>C (p.Gly1591Ala)
c.4499G>C (p.Gly1500Ala)
c.3950G>C (p.Gly1317Ala)
c.5864G>C (p.Gly1955Ala)
c.5588G>C (p.Gly1863Ala)
9g.115041018C>TCA374629331TNCc.507G>A
c.3404G>A (p.Gly1135Asp)
c.4226G>A (p.Gly1409Asp)
c.2258G>A (p.Gly753Asp)
c.914G>A (p.Gly305Asp)
c.4273G>A
c.5315G>A (p.Gly1772Asp)
c.4769G>A (p.Gly1590Asp)
c.4496G>A (p.Gly1499Asp)
n.442G>A
n.229G>A
c.1002G>A
c.5042G>A (p.Gly1681Asp)
c.4223G>A (p.Gly1408Asp)
c.3677G>A (p.Gly1226Asp)
c.5591G>A (p.Gly1864Asp)
c.5318G>A (p.Gly1773Asp)
c.4772G>A (p.Gly1591Asp)
c.4499G>A (p.Gly1500Asp)
c.3950G>A (p.Gly1317Asp)
c.5864G>A (p.Gly1955Asp)
c.5588G>A (p.Gly1863Asp)
 gnomAD v4
9g.115041019C>ACA374629333TNCc.506G>T
c.3403G>T (p.Gly1135Cys)
c.4225G>T (p.Gly1409Cys)
c.2257G>T (p.Gly753Cys)
c.913G>T (p.Gly305Cys)
c.4272G>T
c.5314G>T (p.Gly1772Cys)
c.4768G>T (p.Gly1590Cys)
c.4495G>T (p.Gly1499Cys)
n.441G>T
n.228G>T
c.1001G>T
c.5041G>T (p.Gly1681Cys)
c.4222G>T (p.Gly1408Cys)
c.3676G>T (p.Gly1226Cys)
c.5590G>T (p.Gly1864Cys)
c.5317G>T (p.Gly1773Cys)
c.4771G>T (p.Gly1591Cys)
c.4498G>T (p.Gly1500Cys)
c.3949G>T (p.Gly1317Cys)
c.5863G>T (p.Gly1955Cys)
c.5587G>T (p.Gly1863Cys)
9g.115041019C>GCA374629337TNCc.506G>C
c.3403G>C (p.Gly1135Arg)
c.4225G>C (p.Gly1409Arg)
c.2257G>C (p.Gly753Arg)
c.913G>C (p.Gly305Arg)
c.4272G>C
c.5314G>C (p.Gly1772Arg)
c.4768G>C (p.Gly1590Arg)
c.4495G>C (p.Gly1499Arg)
n.441G>C
n.228G>C
c.1001G>C
c.5041G>C (p.Gly1681Arg)
c.4222G>C (p.Gly1408Arg)
c.3676G>C (p.Gly1226Arg)
c.5590G>C (p.Gly1864Arg)
c.5317G>C (p.Gly1773Arg)
c.4771G>C (p.Gly1591Arg)
c.4498G>C (p.Gly1500Arg)
c.3949G>C (p.Gly1317Arg)
c.5863G>C (p.Gly1955Arg)
c.5587G>C (p.Gly1863Arg)
9g.115041019C>TCA374629335TNCc.506G>A
c.3403G>A (p.Gly1135Ser)
c.4225G>A (p.Gly1409Ser)
c.2257G>A (p.Gly753Ser)
c.913G>A (p.Gly305Ser)
c.4272G>A
c.5314G>A (p.Gly1772Ser)
c.4768G>A (p.Gly1590Ser)
c.4495G>A (p.Gly1499Ser)
n.441G>A
n.228G>A
c.1001G>A
c.5041G>A (p.Gly1681Ser)
c.4222G>A (p.Gly1408Ser)
c.3676G>A (p.Gly1226Ser)
c.5590G>A (p.Gly1864Ser)
c.5317G>A (p.Gly1773Ser)
c.4771G>A (p.Gly1591Ser)
c.4498G>A (p.Gly1500Ser)
c.3949G>A (p.Gly1317Ser)
c.5863G>A (p.Gly1955Ser)
c.5587G>A (p.Gly1863Ser)
9g.115041020A=CA1874116342TNCc.505T=
c.3402T= (p.Pro1134=)
c.4224T= (p.Pro1408=)
c.2256T= (p.Pro752=)
c.912T= (p.Pro304=)
c.4271T=
c.5313T= (p.Pro1771=)
c.4767T= (p.Pro1589=)
c.4494T= (p.Pro1498=)
n.440T=
n.227T=
c.1000T=
c.5040T= (p.Pro1680=)
c.4221T= (p.Pro1407=)
c.3675T= (p.Pro1225=)
c.5589T= (p.Pro1863=)
c.5316T= (p.Pro1772=)
c.4770T= (p.Pro1590=)
c.4497T= (p.Pro1499=)
c.3948T= (p.Pro1316=)
c.5862T= (p.Pro1954=)
c.5586T= (p.Pro1862=)
9g.115041020A>CCA466790993TNCc.505T>G
c.3402T>G (p.Pro1134=)
c.4224T>G (p.Pro1408=)
c.2256T>G (p.Pro752=)
c.912T>G (p.Pro304=)
c.4271T>G
c.5313T>G (p.Pro1771=)
c.4767T>G (p.Pro1589=)
c.4494T>G (p.Pro1498=)
n.440T>G
n.227T>G
c.1000T>G
c.5040T>G (p.Pro1680=)
c.4221T>G (p.Pro1407=)
c.3675T>G (p.Pro1225=)
c.5589T>G (p.Pro1863=)
c.5316T>G (p.Pro1772=)
c.4770T>G (p.Pro1590=)
c.4497T>G (p.Pro1499=)
c.3948T>G (p.Pro1316=)
c.5862T>G (p.Pro1954=)
c.5586T>G (p.Pro1862=)
9g.115041020A>GCA466790995TNCc.505T>C
c.3402T>C (p.Pro1134=)
c.4224T>C (p.Pro1408=)
c.2256T>C (p.Pro752=)
c.912T>C (p.Pro304=)
c.4271T>C
c.5313T>C (p.Pro1771=)
c.4767T>C (p.Pro1589=)
c.4494T>C (p.Pro1498=)
n.440T>C
n.227T>C
c.1000T>C
c.5040T>C (p.Pro1680=)
c.4221T>C (p.Pro1407=)
c.3675T>C (p.Pro1225=)
c.5589T>C (p.Pro1863=)
c.5316T>C (p.Pro1772=)
c.4770T>C (p.Pro1590=)
c.4497T>C (p.Pro1499=)
c.3948T>C (p.Pro1316=)
c.5862T>C (p.Pro1954=)
c.5586T>C (p.Pro1862=)
 dbSNP gnomAD v2 gnomAD v4
9g.115041020A>TCA466790994TNCc.505T>A
c.3402T>A (p.Pro1134=)
c.4224T>A (p.Pro1408=)
c.2256T>A (p.Pro752=)
c.912T>A (p.Pro304=)
c.4271T>A
c.5313T>A (p.Pro1771=)
c.4767T>A (p.Pro1589=)
c.4494T>A (p.Pro1498=)
n.440T>A
n.227T>A
c.1000T>A
c.5040T>A (p.Pro1680=)
c.4221T>A (p.Pro1407=)
c.3675T>A (p.Pro1225=)
c.5589T>A (p.Pro1863=)
c.5316T>A (p.Pro1772=)
c.4770T>A (p.Pro1590=)
c.4497T>A (p.Pro1499=)
c.3948T>A (p.Pro1316=)
c.5862T>A (p.Pro1954=)
c.5586T>A (p.Pro1862=)
9g.115041021G>ACA374629339TNCc.504C>T
c.3401C>T (p.Pro1134Leu)
c.4223C>T (p.Pro1408Leu)
c.2255C>T (p.Pro752Leu)
c.911C>T (p.Pro304Leu)
c.4270C>T
c.5312C>T (p.Pro1771Leu)
c.4766C>T (p.Pro1589Leu)
c.4493C>T (p.Pro1498Leu)
n.439C>T
n.226C>T
c.999C>T
c.5039C>T (p.Pro1680Leu)
c.4220C>T (p.Pro1407Leu)
c.3674C>T (p.Pro1225Leu)
c.5588C>T (p.Pro1863Leu)
c.5315C>T (p.Pro1772Leu)
c.4769C>T (p.Pro1590Leu)
c.4496C>T (p.Pro1499Leu)
c.3947C>T (p.Pro1316Leu)
c.5861C>T (p.Pro1954Leu)
c.5585C>T (p.Pro1862Leu)
9g.115041021G>CCA374629342TNCc.504C>G
c.3401C>G (p.Pro1134Arg)
c.4223C>G (p.Pro1408Arg)
c.2255C>G (p.Pro752Arg)
c.911C>G (p.Pro304Arg)
c.4270C>G
c.5312C>G (p.Pro1771Arg)
c.4766C>G (p.Pro1589Arg)
c.4493C>G (p.Pro1498Arg)
n.439C>G
n.226C>G
c.999C>G
c.5039C>G (p.Pro1680Arg)
c.4220C>G (p.Pro1407Arg)
c.3674C>G (p.Pro1225Arg)
c.5588C>G (p.Pro1863Arg)
c.5315C>G (p.Pro1772Arg)
c.4769C>G (p.Pro1590Arg)
c.4496C>G (p.Pro1499Arg)
c.3947C>G (p.Pro1316Arg)
c.5861C>G (p.Pro1954Arg)
c.5585C>G (p.Pro1862Arg)
9g.115041021G>TCA374629341TNCc.504C>A
c.3401C>A (p.Pro1134His)
c.4223C>A (p.Pro1408His)
c.2255C>A (p.Pro752His)
c.911C>A (p.Pro304His)
c.4270C>A
c.5312C>A (p.Pro1771His)
c.4766C>A (p.Pro1589His)
c.4493C>A (p.Pro1498His)
n.439C>A
n.226C>A
c.999C>A
c.5039C>A (p.Pro1680His)
c.4220C>A (p.Pro1407His)
c.3674C>A (p.Pro1225His)
c.5588C>A (p.Pro1863His)
c.5315C>A (p.Pro1772His)
c.4769C>A (p.Pro1590His)
c.4496C>A (p.Pro1499His)
c.3947C>A (p.Pro1316His)
c.5861C>A (p.Pro1954His)
c.5585C>A (p.Pro1862His)
9g.115041022G>ACA374629344TNCc.503C>T
c.3400C>T (p.Pro1134Ser)
c.4222C>T (p.Pro1408Ser)
c.2254C>T (p.Pro752Ser)
c.910C>T (p.Pro304Ser)
c.4269C>T
c.5311C>T (p.Pro1771Ser)
c.4765C>T (p.Pro1589Ser)
c.4492C>T (p.Pro1498Ser)
n.438C>T
n.225C>T
c.998C>T
c.5038C>T (p.Pro1680Ser)
c.4219C>T (p.Pro1407Ser)
c.3673C>T (p.Pro1225Ser)
c.5587C>T (p.Pro1863Ser)
c.5314C>T (p.Pro1772Ser)
c.4768C>T (p.Pro1590Ser)
c.4495C>T (p.Pro1499Ser)
c.3946C>T (p.Pro1316Ser)
c.5860C>T (p.Pro1954Ser)
c.5584C>T (p.Pro1862Ser)
 gnomAD v4
9g.115041022G>CCA374629347TNCc.503C>G
c.3400C>G (p.Pro1134Ala)
c.4222C>G (p.Pro1408Ala)
c.2254C>G (p.Pro752Ala)
c.910C>G (p.Pro304Ala)
c.4269C>G
c.5311C>G (p.Pro1771Ala)
c.4765C>G (p.Pro1589Ala)
c.4492C>G (p.Pro1498Ala)
n.438C>G
n.225C>G
c.998C>G
c.5038C>G (p.Pro1680Ala)
c.4219C>G (p.Pro1407Ala)
c.3673C>G (p.Pro1225Ala)
c.5587C>G (p.Pro1863Ala)
c.5314C>G (p.Pro1772Ala)
c.4768C>G (p.Pro1590Ala)
c.4495C>G (p.Pro1499Ala)
c.3946C>G (p.Pro1316Ala)
c.5860C>G (p.Pro1954Ala)
c.5584C>G (p.Pro1862Ala)
9g.115041022G=CA1874116344TNCc.503C=
c.3400C= (p.Pro1134=)
c.4222C= (p.Pro1408=)
c.2254C= (p.Pro752=)
c.910C= (p.Pro304=)
c.4269C=
c.5311C= (p.Pro1771=)
c.4765C= (p.Pro1589=)
c.4492C= (p.Pro1498=)
n.438C=
n.225C=
c.998C=
c.5038C= (p.Pro1680=)
c.4219C= (p.Pro1407=)
c.3673C= (p.Pro1225=)
c.5587C= (p.Pro1863=)
c.5314C= (p.Pro1772=)
c.4768C= (p.Pro1590=)
c.4495C= (p.Pro1499=)
c.3946C= (p.Pro1316=)
c.5860C= (p.Pro1954=)
c.5584C= (p.Pro1862=)
9g.115041022G>TCA5207690TNCc.503C>A
c.3400C>A (p.Pro1134Thr)
c.4222C>A (p.Pro1408Thr)
c.2254C>A (p.Pro752Thr)
c.910C>A (p.Pro304Thr)
c.4269C>A
c.5311C>A (p.Pro1771Thr)
c.4765C>A (p.Pro1589Thr)
c.4492C>A (p.Pro1498Thr)
n.438C>A
n.225C>A
c.998C>A
c.5038C>A (p.Pro1680Thr)
c.4219C>A (p.Pro1407Thr)
c.3673C>A (p.Pro1225Thr)
c.5587C>A (p.Pro1863Thr)
c.5314C>A (p.Pro1772Thr)
c.4768C>A (p.Pro1590Thr)
c.4495C>A (p.Pro1499Thr)
c.3946C>A (p.Pro1316Thr)
c.5860C>A (p.Pro1954Thr)
c.5584C>A (p.Pro1862Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041023T>ACA466790996TNCc.502A>T
c.3399A>T (p.Ile1133=)
c.4221A>T (p.Ile1407=)
c.2253A>T (p.Ile751=)
c.909A>T (p.Ile303=)
c.4268A>T
c.5310A>T (p.Ile1770=)
c.4764A>T (p.Ile1588=)
c.4491A>T (p.Ile1497=)
n.437A>T
n.224A>T
c.997A>T
c.5037A>T (p.Ile1679=)
c.4218A>T (p.Ile1406=)
c.3672A>T (p.Ile1224=)
c.5586A>T (p.Ile1862=)
c.5313A>T (p.Ile1771=)
c.4767A>T (p.Ile1589=)
c.4494A>T (p.Ile1498=)
c.3945A>T (p.Ile1315=)
c.5859A>T (p.Ile1953=)
c.5583A>T (p.Ile1861=)
9g.115041023T>CCA374629349TNCc.502A>G
c.3399A>G (p.Ile1133Met)
c.4221A>G (p.Ile1407Met)
c.2253A>G (p.Ile751Met)
c.909A>G (p.Ile303Met)
c.4268A>G
c.5310A>G (p.Ile1770Met)
c.4764A>G (p.Ile1588Met)
c.4491A>G (p.Ile1497Met)
n.437A>G
n.224A>G
c.997A>G
c.5037A>G (p.Ile1679Met)
c.4218A>G (p.Ile1406Met)
c.3672A>G (p.Ile1224Met)
c.5586A>G (p.Ile1862Met)
c.5313A>G (p.Ile1771Met)
c.4767A>G (p.Ile1589Met)
c.4494A>G (p.Ile1498Met)
c.3945A>G (p.Ile1315Met)
c.5859A>G (p.Ile1953Met)
c.5583A>G (p.Ile1861Met)
 gnomAD v4
9g.115041023T>GCA466790997TNCc.502A>C
c.3399A>C (p.Ile1133=)
c.4221A>C (p.Ile1407=)
c.2253A>C (p.Ile751=)
c.909A>C (p.Ile303=)
c.4268A>C
c.5310A>C (p.Ile1770=)
c.4764A>C (p.Ile1588=)
c.4491A>C (p.Ile1497=)
n.437A>C
n.224A>C
c.997A>C
c.5037A>C (p.Ile1679=)
c.4218A>C (p.Ile1406=)
c.3672A>C (p.Ile1224=)
c.5586A>C (p.Ile1862=)
c.5313A>C (p.Ile1771=)
c.4767A>C (p.Ile1589=)
c.4494A>C (p.Ile1498=)
c.3945A>C (p.Ile1315=)
c.5859A>C (p.Ile1953=)
c.5583A>C (p.Ile1861=)
9g.115041024A>CCA374629351TNCc.501T>G
c.3398T>G (p.Ile1133Arg)
c.4220T>G (p.Ile1407Arg)
c.2252T>G (p.Ile751Arg)
c.908T>G (p.Ile303Arg)
c.4267T>G
c.5309T>G (p.Ile1770Arg)
c.4763T>G (p.Ile1588Arg)
c.4490T>G (p.Ile1497Arg)
n.436T>G
n.223T>G
c.996T>G
c.5036T>G (p.Ile1679Arg)
c.4217T>G (p.Ile1406Arg)
c.3671T>G (p.Ile1224Arg)
c.5585T>G (p.Ile1862Arg)
c.5312T>G (p.Ile1771Arg)
c.4766T>G (p.Ile1589Arg)
c.4493T>G (p.Ile1498Arg)
c.3944T>G (p.Ile1315Arg)
c.5858T>G (p.Ile1953Arg)
c.5582T>G (p.Ile1861Arg)
9g.115041024A>GCA374629353TNCc.501T>C
c.3398T>C (p.Ile1133Thr)
c.4220T>C (p.Ile1407Thr)
c.2252T>C (p.Ile751Thr)
c.908T>C (p.Ile303Thr)
c.4267T>C
c.5309T>C (p.Ile1770Thr)
c.4763T>C (p.Ile1588Thr)
c.4490T>C (p.Ile1497Thr)
n.436T>C
n.223T>C
c.996T>C
c.5036T>C (p.Ile1679Thr)
c.4217T>C (p.Ile1406Thr)
c.3671T>C (p.Ile1224Thr)
c.5585T>C (p.Ile1862Thr)
c.5312T>C (p.Ile1771Thr)
c.4766T>C (p.Ile1589Thr)
c.4493T>C (p.Ile1498Thr)
c.3944T>C (p.Ile1315Thr)
c.5858T>C (p.Ile1953Thr)
c.5582T>C (p.Ile1861Thr)
9g.115041024A>TCA374629356TNCc.501T>A
c.3398T>A (p.Ile1133Lys)
c.4220T>A (p.Ile1407Lys)
c.2252T>A (p.Ile751Lys)
c.908T>A (p.Ile303Lys)
c.4267T>A
c.5309T>A (p.Ile1770Lys)
c.4763T>A (p.Ile1588Lys)
c.4490T>A (p.Ile1497Lys)
n.436T>A
n.223T>A
c.996T>A
c.5036T>A (p.Ile1679Lys)
c.4217T>A (p.Ile1406Lys)
c.3671T>A (p.Ile1224Lys)
c.5585T>A (p.Ile1862Lys)
c.5312T>A (p.Ile1771Lys)
c.4766T>A (p.Ile1589Lys)
c.4493T>A (p.Ile1498Lys)
c.3944T>A (p.Ile1315Lys)
c.5858T>A (p.Ile1953Lys)
c.5582T>A (p.Ile1861Lys)
9g.115041025T>ACA374629358TNCc.500A>T
c.3397A>T (p.Ile1133Leu)
c.4219A>T (p.Ile1407Leu)
c.2251A>T (p.Ile751Leu)
c.907A>T (p.Ile303Leu)
c.4266A>T
c.5308A>T (p.Ile1770Leu)
c.4762A>T (p.Ile1588Leu)
c.4489A>T (p.Ile1497Leu)
n.435A>T
n.222A>T
c.995A>T
c.5035A>T (p.Ile1679Leu)
c.4216A>T (p.Ile1406Leu)
c.3670A>T (p.Ile1224Leu)
c.5584A>T (p.Ile1862Leu)
c.5311A>T (p.Ile1771Leu)
c.4765A>T (p.Ile1589Leu)
c.4492A>T (p.Ile1498Leu)
c.3943A>T (p.Ile1315Leu)
c.5857A>T (p.Ile1953Leu)
c.5581A>T (p.Ile1861Leu)
 dbSNP
9g.115041025T>CCA374629360TNCc.500A>G
c.3397A>G (p.Ile1133Val)
c.4219A>G (p.Ile1407Val)
c.2251A>G (p.Ile751Val)
c.907A>G (p.Ile303Val)
c.4266A>G
c.5308A>G (p.Ile1770Val)
c.4762A>G (p.Ile1588Val)
c.4489A>G (p.Ile1497Val)
n.435A>G
n.222A>G
c.995A>G
c.5035A>G (p.Ile1679Val)
c.4216A>G (p.Ile1406Val)
c.3670A>G (p.Ile1224Val)
c.5584A>G (p.Ile1862Val)
c.5311A>G (p.Ile1771Val)
c.4765A>G (p.Ile1589Val)
c.4492A>G (p.Ile1498Val)
c.3943A>G (p.Ile1315Val)
c.5857A>G (p.Ile1953Val)
c.5581A>G (p.Ile1861Val)
9g.115041025T>GCA374629362TNCc.500A>C
c.3397A>C (p.Ile1133Leu)
c.4219A>C (p.Ile1407Leu)
c.2251A>C (p.Ile751Leu)
c.907A>C (p.Ile303Leu)
c.4266A>C
c.5308A>C (p.Ile1770Leu)
c.4762A>C (p.Ile1588Leu)
c.4489A>C (p.Ile1497Leu)
n.435A>C
n.222A>C
c.995A>C
c.5035A>C (p.Ile1679Leu)
c.4216A>C (p.Ile1406Leu)
c.3670A>C (p.Ile1224Leu)
c.5584A>C (p.Ile1862Leu)
c.5311A>C (p.Ile1771Leu)
c.4765A>C (p.Ile1589Leu)
c.4492A>C (p.Ile1498Leu)
c.3943A>C (p.Ile1315Leu)
c.5857A>C (p.Ile1953Leu)
c.5581A>C (p.Ile1861Leu)
9g.115041025T=CA1874116346TNCc.500A=
c.3397A= (p.Ile1133=)
c.4219A= (p.Ile1407=)
c.2251A= (p.Ile751=)
c.907A= (p.Ile303=)
c.4266A=
c.5308A= (p.Ile1770=)
c.4762A= (p.Ile1588=)
c.4489A= (p.Ile1497=)
n.435A=
n.222A=
c.995A=
c.5035A= (p.Ile1679=)
c.4216A= (p.Ile1406=)
c.3670A= (p.Ile1224=)
c.5584A= (p.Ile1862=)
c.5311A= (p.Ile1771=)
c.4765A= (p.Ile1589=)
c.4492A= (p.Ile1498=)
c.3943A= (p.Ile1315=)
c.5857A= (p.Ile1953=)
c.5581A= (p.Ile1861=)
9g.115041026G>ACA466790998TNCc.499C>T
c.3396C>T (p.Leu1132=)
c.4218C>T (p.Leu1406=)
c.2250C>T (p.Leu750=)
c.906C>T (p.Leu302=)
c.4265C>T
c.5307C>T (p.Leu1769=)
c.4761C>T (p.Leu1587=)
c.4488C>T (p.Leu1496=)
n.434C>T
n.221C>T
c.994C>T
c.5034C>T (p.Leu1678=)
c.4215C>T (p.Leu1405=)
c.3669C>T (p.Leu1223=)
c.5583C>T (p.Leu1861=)
c.5310C>T (p.Leu1770=)
c.4764C>T (p.Leu1588=)
c.4491C>T (p.Leu1497=)
c.3942C>T (p.Leu1314=)
c.5856C>T (p.Leu1952=)
c.5580C>T (p.Leu1860=)
9g.115041026G>CCA466790999TNCc.499C>G
c.3396C>G (p.Leu1132=)
c.4218C>G (p.Leu1406=)
c.2250C>G (p.Leu750=)
c.906C>G (p.Leu302=)
c.4265C>G
c.5307C>G (p.Leu1769=)
c.4761C>G (p.Leu1587=)
c.4488C>G (p.Leu1496=)
n.434C>G
n.221C>G
c.994C>G
c.5034C>G (p.Leu1678=)
c.4215C>G (p.Leu1405=)
c.3669C>G (p.Leu1223=)
c.5583C>G (p.Leu1861=)
c.5310C>G (p.Leu1770=)
c.4764C>G (p.Leu1588=)
c.4491C>G (p.Leu1497=)
c.3942C>G (p.Leu1314=)
c.5856C>G (p.Leu1952=)
c.5580C>G (p.Leu1860=)
 dbSNP gnomAD v2 gnomAD v4
9g.115041026G=CA1874116348TNCc.499C=
c.3396C= (p.Leu1132=)
c.4218C= (p.Leu1406=)
c.2250C= (p.Leu750=)
c.906C= (p.Leu302=)
c.4265C=
c.5307C= (p.Leu1769=)
c.4761C= (p.Leu1587=)
c.4488C= (p.Leu1496=)
n.434C=
n.221C=
c.994C=
c.5034C= (p.Leu1678=)
c.4215C= (p.Leu1405=)
c.3669C= (p.Leu1223=)
c.5583C= (p.Leu1861=)
c.5310C= (p.Leu1770=)
c.4764C= (p.Leu1588=)
c.4491C= (p.Leu1497=)
c.3942C= (p.Leu1314=)
c.5856C= (p.Leu1952=)
c.5580C= (p.Leu1860=)
9g.115041026G>TCA466791000TNCc.499C>A
c.3396C>A (p.Leu1132=)
c.4218C>A (p.Leu1406=)
c.2250C>A (p.Leu750=)
c.906C>A (p.Leu302=)
c.4265C>A
c.5307C>A (p.Leu1769=)
c.4761C>A (p.Leu1587=)
c.4488C>A (p.Leu1496=)
n.434C>A
n.221C>A
c.994C>A
c.5034C>A (p.Leu1678=)
c.4215C>A (p.Leu1405=)
c.3669C>A (p.Leu1223=)
c.5583C>A (p.Leu1861=)
c.5310C>A (p.Leu1770=)
c.4764C>A (p.Leu1588=)
c.4491C>A (p.Leu1497=)
c.3942C>A (p.Leu1314=)
c.5856C>A (p.Leu1952=)
c.5580C>A (p.Leu1860=)
9g.115041027A=CA1874116350TNCc.498T=
c.3395T= (p.Leu1132=)
c.4217T= (p.Leu1406=)
c.2249T= (p.Leu750=)
c.905T= (p.Leu302=)
c.4264T=
c.5306T= (p.Leu1769=)
c.4760T= (p.Leu1587=)
c.4487T= (p.Leu1496=)
n.433T=
n.220T=
c.993T=
c.5033T= (p.Leu1678=)
c.4214T= (p.Leu1405=)
c.3668T= (p.Leu1223=)
c.5582T= (p.Leu1861=)
c.5309T= (p.Leu1770=)
c.4763T= (p.Leu1588=)
c.4490T= (p.Leu1497=)
c.3941T= (p.Leu1314=)
c.5855T= (p.Leu1952=)
c.5579T= (p.Leu1860=)
9g.115041027A>CCA374629364TNCc.498T>G
c.3395T>G (p.Leu1132Arg)
c.4217T>G (p.Leu1406Arg)
c.2249T>G (p.Leu750Arg)
c.905T>G (p.Leu302Arg)
c.4264T>G
c.5306T>G (p.Leu1769Arg)
c.4760T>G (p.Leu1587Arg)
c.4487T>G (p.Leu1496Arg)
n.433T>G
n.220T>G
c.993T>G
c.5033T>G (p.Leu1678Arg)
c.4214T>G (p.Leu1405Arg)
c.3668T>G (p.Leu1223Arg)
c.5582T>G (p.Leu1861Arg)
c.5309T>G (p.Leu1770Arg)
c.4763T>G (p.Leu1588Arg)
c.4490T>G (p.Leu1497Arg)
c.3941T>G (p.Leu1314Arg)
c.5855T>G (p.Leu1952Arg)
c.5579T>G (p.Leu1860Arg)
 gnomAD v4
9g.115041027A>GCA5207691TNCc.498T>C
c.3395T>C (p.Leu1132Pro)
c.4217T>C (p.Leu1406Pro)
c.2249T>C (p.Leu750Pro)
c.905T>C (p.Leu302Pro)
c.4264T>C
c.5306T>C (p.Leu1769Pro)
c.4760T>C (p.Leu1587Pro)
c.4487T>C (p.Leu1496Pro)
n.433T>C
n.220T>C
c.993T>C
c.5033T>C (p.Leu1678Pro)
c.4214T>C (p.Leu1405Pro)
c.3668T>C (p.Leu1223Pro)
c.5582T>C (p.Leu1861Pro)
c.5309T>C (p.Leu1770Pro)
c.4763T>C (p.Leu1588Pro)
c.4490T>C (p.Leu1497Pro)
c.3941T>C (p.Leu1314Pro)
c.5855T>C (p.Leu1952Pro)
c.5579T>C (p.Leu1860Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041027A>TCA374629367TNCc.498T>A
c.3395T>A (p.Leu1132His)
c.4217T>A (p.Leu1406His)
c.2249T>A (p.Leu750His)
c.905T>A (p.Leu302His)
c.4264T>A
c.5306T>A (p.Leu1769His)
c.4760T>A (p.Leu1587His)
c.4487T>A (p.Leu1496His)
n.433T>A
n.220T>A
c.993T>A
c.5033T>A (p.Leu1678His)
c.4214T>A (p.Leu1405His)
c.3668T>A (p.Leu1223His)
c.5582T>A (p.Leu1861His)
c.5309T>A (p.Leu1770His)
c.4763T>A (p.Leu1588His)
c.4490T>A (p.Leu1497His)
c.3941T>A (p.Leu1314His)
c.5855T>A (p.Leu1952His)
c.5579T>A (p.Leu1860His)
9g.115041028G>ACA374629369TNCc.497C>T
c.3394C>T (p.Leu1132Phe)
c.4216C>T (p.Leu1406Phe)
c.2248C>T (p.Leu750Phe)
c.904C>T (p.Leu302Phe)
c.4263C>T
c.5305C>T (p.Leu1769Phe)
c.4759C>T (p.Leu1587Phe)
c.4486C>T (p.Leu1496Phe)
n.432C>T
n.219C>T
c.992C>T
c.5032C>T (p.Leu1678Phe)
c.4213C>T (p.Leu1405Phe)
c.3667C>T (p.Leu1223Phe)
c.5581C>T (p.Leu1861Phe)
c.5308C>T (p.Leu1770Phe)
c.4762C>T (p.Leu1588Phe)
c.4489C>T (p.Leu1497Phe)
c.3940C>T (p.Leu1314Phe)
c.5854C>T (p.Leu1952Phe)
c.5578C>T (p.Leu1860Phe)
 dbSNP gnomAD v4
9g.115041028G>CCA374629371TNCc.497C>G
c.3394C>G (p.Leu1132Val)
c.4216C>G (p.Leu1406Val)
c.2248C>G (p.Leu750Val)
c.904C>G (p.Leu302Val)
c.4263C>G
c.5305C>G (p.Leu1769Val)
c.4759C>G (p.Leu1587Val)
c.4486C>G (p.Leu1496Val)
n.432C>G
n.219C>G
c.992C>G
c.5032C>G (p.Leu1678Val)
c.4213C>G (p.Leu1405Val)
c.3667C>G (p.Leu1223Val)
c.5581C>G (p.Leu1861Val)
c.5308C>G (p.Leu1770Val)
c.4762C>G (p.Leu1588Val)
c.4489C>G (p.Leu1497Val)
c.3940C>G (p.Leu1314Val)
c.5854C>G (p.Leu1952Val)
c.5578C>G (p.Leu1860Val)
9g.115041028G=CA1874116351TNCc.497C=
c.3394C= (p.Leu1132=)
c.4216C= (p.Leu1406=)
c.2248C= (p.Leu750=)
c.904C= (p.Leu302=)
c.4263C=
c.5305C= (p.Leu1769=)
c.4759C= (p.Leu1587=)
c.4486C= (p.Leu1496=)
n.432C=
n.219C=
c.992C=
c.5032C= (p.Leu1678=)
c.4213C= (p.Leu1405=)
c.3667C= (p.Leu1223=)
c.5581C= (p.Leu1861=)
c.5308C= (p.Leu1770=)
c.4762C= (p.Leu1588=)
c.4489C= (p.Leu1497=)
c.3940C= (p.Leu1314=)
c.5854C= (p.Leu1952=)
c.5578C= (p.Leu1860=)
9g.115041028G>TCA374629373TNCc.497C>A
c.3394C>A (p.Leu1132Ile)
c.4216C>A (p.Leu1406Ile)
c.2248C>A (p.Leu750Ile)
c.904C>A (p.Leu302Ile)
c.4263C>A
c.5305C>A (p.Leu1769Ile)
c.4759C>A (p.Leu1587Ile)
c.4486C>A (p.Leu1496Ile)
n.432C>A
n.219C>A
c.992C>A
c.5032C>A (p.Leu1678Ile)
c.4213C>A (p.Leu1405Ile)
c.3667C>A (p.Leu1223Ile)
c.5581C>A (p.Leu1861Ile)
c.5308C>A (p.Leu1770Ile)
c.4762C>A (p.Leu1588Ile)
c.4489C>A (p.Leu1497Ile)
c.3940C>A (p.Leu1314Ile)
c.5854C>A (p.Leu1952Ile)
c.5578C>A (p.Leu1860Ile)
9g.115041029T>ACA374629376TNCc.496A>T
c.3393A>T (p.Lys1131Asn)
c.4215A>T (p.Lys1405Asn)
c.2247A>T (p.Lys749Asn)
c.903A>T (p.Lys301Asn)
c.4262A>T
c.5304A>T (p.Lys1768Asn)
c.4758A>T (p.Lys1586Asn)
c.4485A>T (p.Lys1495Asn)
n.431A>T
n.218A>T
c.991A>T
c.5031A>T (p.Lys1677Asn)
c.4212A>T (p.Lys1404Asn)
c.3666A>T (p.Lys1222Asn)
c.5580A>T (p.Lys1860Asn)
c.5307A>T (p.Lys1769Asn)
c.4761A>T (p.Lys1587Asn)
c.4488A>T (p.Lys1496Asn)
c.3939A>T (p.Lys1313Asn)
c.5853A>T (p.Lys1951Asn)
c.5577A>T (p.Lys1859Asn)
9g.115041029T>CCA466791001TNCc.496A>G
c.3393A>G (p.Lys1131=)
c.4215A>G (p.Lys1405=)
c.2247A>G (p.Lys749=)
c.903A>G (p.Lys301=)
c.4262A>G
c.5304A>G (p.Lys1768=)
c.4758A>G (p.Lys1586=)
c.4485A>G (p.Lys1495=)
n.431A>G
n.218A>G
c.991A>G
c.5031A>G (p.Lys1677=)
c.4212A>G (p.Lys1404=)
c.3666A>G (p.Lys1222=)
c.5580A>G (p.Lys1860=)
c.5307A>G (p.Lys1769=)
c.4761A>G (p.Lys1587=)
c.4488A>G (p.Lys1496=)
c.3939A>G (p.Lys1313=)
c.5853A>G (p.Lys1951=)
c.5577A>G (p.Lys1859=)
9g.115041029T>GCA374629374TNCc.496A>C
c.3393A>C (p.Lys1131Asn)
c.4215A>C (p.Lys1405Asn)
c.2247A>C (p.Lys749Asn)
c.903A>C (p.Lys301Asn)
c.4262A>C
c.5304A>C (p.Lys1768Asn)
c.4758A>C (p.Lys1586Asn)
c.4485A>C (p.Lys1495Asn)
n.431A>C
n.218A>C
c.991A>C
c.5031A>C (p.Lys1677Asn)
c.4212A>C (p.Lys1404Asn)
c.3666A>C (p.Lys1222Asn)
c.5580A>C (p.Lys1860Asn)
c.5307A>C (p.Lys1769Asn)
c.4761A>C (p.Lys1587Asn)
c.4488A>C (p.Lys1496Asn)
c.3939A>C (p.Lys1313Asn)
c.5853A>C (p.Lys1951Asn)
c.5577A>C (p.Lys1859Asn)
9g.115041030T>ACA374629378TNCc.495A>T
c.3392A>T (p.Lys1131Ile)
c.4214A>T (p.Lys1405Ile)
c.2246A>T (p.Lys749Ile)
c.902A>T (p.Lys301Ile)
c.4261A>T
c.5303A>T (p.Lys1768Ile)
c.4757A>T (p.Lys1586Ile)
c.4484A>T (p.Lys1495Ile)
n.430A>T
n.217A>T
c.990A>T
c.5030A>T (p.Lys1677Ile)
c.4211A>T (p.Lys1404Ile)
c.3665A>T (p.Lys1222Ile)
c.5579A>T (p.Lys1860Ile)
c.5306A>T (p.Lys1769Ile)
c.4760A>T (p.Lys1587Ile)
c.4487A>T (p.Lys1496Ile)
c.3938A>T (p.Lys1313Ile)
c.5852A>T (p.Lys1951Ile)
c.5576A>T (p.Lys1859Ile)
 gnomAD v4
9g.115041030T>CCA374629380TNCc.495A>G
c.3392A>G (p.Lys1131Arg)
c.4214A>G (p.Lys1405Arg)
c.2246A>G (p.Lys749Arg)
c.902A>G (p.Lys301Arg)
c.4261A>G
c.5303A>G (p.Lys1768Arg)
c.4757A>G (p.Lys1586Arg)
c.4484A>G (p.Lys1495Arg)
n.430A>G
n.217A>G
c.990A>G
c.5030A>G (p.Lys1677Arg)
c.4211A>G (p.Lys1404Arg)
c.3665A>G (p.Lys1222Arg)
c.5579A>G (p.Lys1860Arg)
c.5306A>G (p.Lys1769Arg)
c.4760A>G (p.Lys1587Arg)
c.4487A>G (p.Lys1496Arg)
c.3938A>G (p.Lys1313Arg)
c.5852A>G (p.Lys1951Arg)
c.5576A>G (p.Lys1859Arg)
 dbSNP
9g.115041030T>GCA374629382TNCc.495A>C
c.3392A>C (p.Lys1131Thr)
c.4214A>C (p.Lys1405Thr)
c.2246A>C (p.Lys749Thr)
c.902A>C (p.Lys301Thr)
c.4261A>C
c.5303A>C (p.Lys1768Thr)
c.4757A>C (p.Lys1586Thr)
c.4484A>C (p.Lys1495Thr)
n.430A>C
n.217A>C
c.990A>C
c.5030A>C (p.Lys1677Thr)
c.4211A>C (p.Lys1404Thr)
c.3665A>C (p.Lys1222Thr)
c.5579A>C (p.Lys1860Thr)
c.5306A>C (p.Lys1769Thr)
c.4760A>C (p.Lys1587Thr)
c.4487A>C (p.Lys1496Thr)
c.3938A>C (p.Lys1313Thr)
c.5852A>C (p.Lys1951Thr)
c.5576A>C (p.Lys1859Thr)
9g.115041030T=CA1874116353TNCc.495A=
c.3392A= (p.Lys1131=)
c.4214A= (p.Lys1405=)
c.2246A= (p.Lys749=)
c.902A= (p.Lys301=)
c.4261A=
c.5303A= (p.Lys1768=)
c.4757A= (p.Lys1586=)
c.4484A= (p.Lys1495=)
n.430A=
n.217A=
c.990A=
c.5030A= (p.Lys1677=)
c.4211A= (p.Lys1404=)
c.3665A= (p.Lys1222=)
c.5579A= (p.Lys1860=)
c.5306A= (p.Lys1769=)
c.4760A= (p.Lys1587=)
c.4487A= (p.Lys1496=)
c.3938A= (p.Lys1313=)
c.5852A= (p.Lys1951=)
c.5576A= (p.Lys1859=)
9g.115041031T>ACA374629384TNCc.494A>T
c.3391A>T (p.Lys1131Ter)
c.4213A>T (p.Lys1405Ter)
c.2245A>T (p.Lys749Ter)
c.901A>T (p.Lys301Ter)
c.4260A>T
c.5302A>T (p.Lys1768Ter)
c.4756A>T (p.Lys1586Ter)
c.4483A>T (p.Lys1495Ter)
n.429A>T
n.216A>T
c.989A>T
c.5029A>T (p.Lys1677Ter)
c.4210A>T (p.Lys1404Ter)
c.3664A>T (p.Lys1222Ter)
c.5578A>T (p.Lys1860Ter)
c.5305A>T (p.Lys1769Ter)
c.4759A>T (p.Lys1587Ter)
c.4486A>T (p.Lys1496Ter)
c.3937A>T (p.Lys1313Ter)
c.5851A>T (p.Lys1951Ter)
c.5575A>T (p.Lys1859Ter)
9g.115041031T>CCA374629385TNCc.494A>G
c.3391A>G (p.Lys1131Glu)
c.4213A>G (p.Lys1405Glu)
c.2245A>G (p.Lys749Glu)
c.901A>G (p.Lys301Glu)
c.4260A>G
c.5302A>G (p.Lys1768Glu)
c.4756A>G (p.Lys1586Glu)
c.4483A>G (p.Lys1495Glu)
n.429A>G
n.216A>G
c.989A>G
c.5029A>G (p.Lys1677Glu)
c.4210A>G (p.Lys1404Glu)
c.3664A>G (p.Lys1222Glu)
c.5578A>G (p.Lys1860Glu)
c.5305A>G (p.Lys1769Glu)
c.4759A>G (p.Lys1587Glu)
c.4486A>G (p.Lys1496Glu)
c.3937A>G (p.Lys1313Glu)
c.5851A>G (p.Lys1951Glu)
c.5575A>G (p.Lys1859Glu)
9g.115041031T>GCA374629387TNCc.494A>C
c.3391A>C (p.Lys1131Gln)
c.4213A>C (p.Lys1405Gln)
c.2245A>C (p.Lys749Gln)
c.901A>C (p.Lys301Gln)
c.4260A>C
c.5302A>C (p.Lys1768Gln)
c.4756A>C (p.Lys1586Gln)
c.4483A>C (p.Lys1495Gln)
n.429A>C
n.216A>C
c.989A>C
c.5029A>C (p.Lys1677Gln)
c.4210A>C (p.Lys1404Gln)
c.3664A>C (p.Lys1222Gln)
c.5578A>C (p.Lys1860Gln)
c.5305A>C (p.Lys1769Gln)
c.4759A>C (p.Lys1587Gln)
c.4486A>C (p.Lys1496Gln)
c.3937A>C (p.Lys1313Gln)
c.5851A>C (p.Lys1951Gln)
c.5575A>C (p.Lys1859Gln)
9g.115041032C>ACA466791002TNCc.493G>T
c.3390G>T (p.Val1130=)
c.4212G>T (p.Val1404=)
c.2244G>T (p.Val748=)
c.900G>T (p.Val300=)
c.4259G>T
c.5301G>T (p.Val1767=)
c.4755G>T (p.Val1585=)
c.4482G>T (p.Val1494=)
n.428G>T
n.215G>T
c.988G>T
c.5028G>T (p.Val1676=)
c.4209G>T (p.Val1403=)
c.3663G>T (p.Val1221=)
c.5577G>T (p.Val1859=)
c.5304G>T (p.Val1768=)
c.4758G>T (p.Val1586=)
c.4485G>T (p.Val1495=)
c.3936G>T (p.Val1312=)
c.5850G>T (p.Val1950=)
c.5574G>T (p.Val1858=)
9g.115041032C=CA1874116354TNCc.493G=
c.3390G= (p.Val1130=)
c.4212G= (p.Val1404=)
c.2244G= (p.Val748=)
c.900G= (p.Val300=)
c.4259G=
c.5301G= (p.Val1767=)
c.4755G= (p.Val1585=)
c.4482G= (p.Val1494=)
n.428G=
n.215G=
c.988G=
c.5028G= (p.Val1676=)
c.4209G= (p.Val1403=)
c.3663G= (p.Val1221=)
c.5577G= (p.Val1859=)
c.5304G= (p.Val1768=)
c.4758G= (p.Val1586=)
c.4485G= (p.Val1495=)
c.3936G= (p.Val1312=)
c.5850G= (p.Val1950=)
c.5574G= (p.Val1858=)
9g.115041032C>GCA466791003TNCc.493G>C
c.3390G>C (p.Val1130=)
c.4212G>C (p.Val1404=)
c.2244G>C (p.Val748=)
c.900G>C (p.Val300=)
c.4259G>C
c.5301G>C (p.Val1767=)
c.4755G>C (p.Val1585=)
c.4482G>C (p.Val1494=)
n.428G>C
n.215G>C
c.988G>C
c.5028G>C (p.Val1676=)
c.4209G>C (p.Val1403=)
c.3663G>C (p.Val1221=)
c.5577G>C (p.Val1859=)
c.5304G>C (p.Val1768=)
c.4758G>C (p.Val1586=)
c.4485G>C (p.Val1495=)
c.3936G>C (p.Val1312=)
c.5850G>C (p.Val1950=)
c.5574G>C (p.Val1858=)
9g.115041032C>TCA198685281TNCc.493G>A
c.3390G>A (p.Val1130=)
c.4212G>A (p.Val1404=)
c.2244G>A (p.Val748=)
c.900G>A (p.Val300=)
c.4259G>A
c.5301G>A (p.Val1767=)
c.4755G>A (p.Val1585=)
c.4482G>A (p.Val1494=)
n.428G>A
n.215G>A
c.988G>A
c.5028G>A (p.Val1676=)
c.4209G>A (p.Val1403=)
c.3663G>A (p.Val1221=)
c.5577G>A (p.Val1859=)
c.5304G>A (p.Val1768=)
c.4758G>A (p.Val1586=)
c.4485G>A (p.Val1495=)
c.3936G>A (p.Val1312=)
c.5850G>A (p.Val1950=)
c.5574G>A (p.Val1858=)
 dbSNP
9g.115041033A=CA1874116355TNCc.492T=
c.3389T= (p.Val1130=)
c.4211T= (p.Val1404=)
c.2243T= (p.Val748=)
c.899T= (p.Val300=)
c.4258T=
c.5300T= (p.Val1767=)
c.4754T= (p.Val1585=)
c.4481T= (p.Val1494=)
n.427T=
n.214T=
c.987T=
c.5027T= (p.Val1676=)
c.4208T= (p.Val1403=)
c.3662T= (p.Val1221=)
c.5576T= (p.Val1859=)
c.5303T= (p.Val1768=)
c.4757T= (p.Val1586=)
c.4484T= (p.Val1495=)
c.3935T= (p.Val1312=)
c.5849T= (p.Val1950=)
c.5573T= (p.Val1858=)
9g.115041033A>CCA374629389TNCc.492T>G
c.3389T>G (p.Val1130Gly)
c.4211T>G (p.Val1404Gly)
c.2243T>G (p.Val748Gly)
c.899T>G (p.Val300Gly)
c.4258T>G
c.5300T>G (p.Val1767Gly)
c.4754T>G (p.Val1585Gly)
c.4481T>G (p.Val1494Gly)
n.427T>G
n.214T>G
c.987T>G
c.5027T>G (p.Val1676Gly)
c.4208T>G (p.Val1403Gly)
c.3662T>G (p.Val1221Gly)
c.5576T>G (p.Val1859Gly)
c.5303T>G (p.Val1768Gly)
c.4757T>G (p.Val1586Gly)
c.4484T>G (p.Val1495Gly)
c.3935T>G (p.Val1312Gly)
c.5849T>G (p.Val1950Gly)
c.5573T>G (p.Val1858Gly)
9g.115041033A>GCA374629391TNCc.492T>C
c.3389T>C (p.Val1130Ala)
c.4211T>C (p.Val1404Ala)
c.2243T>C (p.Val748Ala)
c.899T>C (p.Val300Ala)
c.4258T>C
c.5300T>C (p.Val1767Ala)
c.4754T>C (p.Val1585Ala)
c.4481T>C (p.Val1494Ala)
n.427T>C
n.214T>C
c.987T>C
c.5027T>C (p.Val1676Ala)
c.4208T>C (p.Val1403Ala)
c.3662T>C (p.Val1221Ala)
c.5576T>C (p.Val1859Ala)
c.5303T>C (p.Val1768Ala)
c.4757T>C (p.Val1586Ala)
c.4484T>C (p.Val1495Ala)
c.3935T>C (p.Val1312Ala)
c.5849T>C (p.Val1950Ala)
c.5573T>C (p.Val1858Ala)
 dbSNP
9g.115041033A>TCA374629392TNCc.492T>A
c.3389T>A (p.Val1130Glu)
c.4211T>A (p.Val1404Glu)
c.2243T>A (p.Val748Glu)
c.899T>A (p.Val300Glu)
c.4258T>A
c.5300T>A (p.Val1767Glu)
c.4754T>A (p.Val1585Glu)
c.4481T>A (p.Val1494Glu)
n.427T>A
n.214T>A
c.987T>A
c.5027T>A (p.Val1676Glu)
c.4208T>A (p.Val1403Glu)
c.3662T>A (p.Val1221Glu)
c.5576T>A (p.Val1859Glu)
c.5303T>A (p.Val1768Glu)
c.4757T>A (p.Val1586Glu)
c.4484T>A (p.Val1495Glu)
c.3935T>A (p.Val1312Glu)
c.5849T>A (p.Val1950Glu)
c.5573T>A (p.Val1858Glu)
9g.115041034C>ACA5207692TNCc.491G>T
c.3388G>T (p.Val1130Leu)
c.4210G>T (p.Val1404Leu)
c.2242G>T (p.Val748Leu)
c.898G>T (p.Val300Leu)
c.4257G>T
c.5299G>T (p.Val1767Leu)
c.4753G>T (p.Val1585Leu)
c.4480G>T (p.Val1494Leu)
n.426G>T
n.213G>T
c.986G>T
c.5026G>T (p.Val1676Leu)
c.4207G>T (p.Val1403Leu)
c.3661G>T (p.Val1221Leu)
c.5575G>T (p.Val1859Leu)
c.5302G>T (p.Val1768Leu)
c.4756G>T (p.Val1586Leu)
c.4483G>T (p.Val1495Leu)
c.3934G>T (p.Val1312Leu)
c.5848G>T (p.Val1950Leu)
c.5572G>T (p.Val1858Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041034C=CA1874116356TNCc.491G=
c.3388G= (p.Val1130=)
c.4210G= (p.Val1404=)
c.2242G= (p.Val748=)
c.898G= (p.Val300=)
c.4257G=
c.5299G= (p.Val1767=)
c.4753G= (p.Val1585=)
c.4480G= (p.Val1494=)
n.426G=
n.213G=
c.986G=
c.5026G= (p.Val1676=)
c.4207G= (p.Val1403=)
c.3661G= (p.Val1221=)
c.5575G= (p.Val1859=)
c.5302G= (p.Val1768=)
c.4756G= (p.Val1586=)
c.4483G= (p.Val1495=)
c.3934G= (p.Val1312=)
c.5848G= (p.Val1950=)
c.5572G= (p.Val1858=)
9g.115041034C>GCA374629395TNCc.491G>C
c.3388G>C (p.Val1130Leu)
c.4210G>C (p.Val1404Leu)
c.2242G>C (p.Val748Leu)
c.898G>C (p.Val300Leu)
c.4257G>C
c.5299G>C (p.Val1767Leu)
c.4753G>C (p.Val1585Leu)
c.4480G>C (p.Val1494Leu)
n.426G>C
n.213G>C
c.986G>C
c.5026G>C (p.Val1676Leu)
c.4207G>C (p.Val1403Leu)
c.3661G>C (p.Val1221Leu)
c.5575G>C (p.Val1859Leu)
c.5302G>C (p.Val1768Leu)
c.4756G>C (p.Val1586Leu)
c.4483G>C (p.Val1495Leu)
c.3934G>C (p.Val1312Leu)
c.5848G>C (p.Val1950Leu)
c.5572G>C (p.Val1858Leu)
9g.115041034C>TCA5207693TNCc.491G>A
c.3388G>A (p.Val1130Met)
c.4210G>A (p.Val1404Met)
c.2242G>A (p.Val748Met)
c.898G>A (p.Val300Met)
c.4257G>A
c.5299G>A (p.Val1767Met)
c.4753G>A (p.Val1585Met)
c.4480G>A (p.Val1494Met)
n.426G>A
n.213G>A
c.986G>A
c.5026G>A (p.Val1676Met)
c.4207G>A (p.Val1403Met)
c.3661G>A (p.Val1221Met)
c.5575G>A (p.Val1859Met)
c.5302G>A (p.Val1768Met)
c.4756G>A (p.Val1586Met)
c.4483G>A (p.Val1495Met)
c.3934G>A (p.Val1312Met)
c.5848G>A (p.Val1950Met)
c.5572G>A (p.Val1858Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041035C>ACA466791004TNCc.490G>T
c.3387G>T (p.Leu1129=)
c.4209G>T (p.Leu1403=)
c.2241G>T (p.Leu747=)
c.897G>T (p.Leu299=)
c.4256G>T
c.5298G>T (p.Leu1766=)
c.4752G>T (p.Leu1584=)
c.4479G>T (p.Leu1493=)
n.425G>T
n.212G>T
c.985G>T
c.5025G>T (p.Leu1675=)
c.4206G>T (p.Leu1402=)
c.3660G>T (p.Leu1220=)
c.5574G>T (p.Leu1858=)
c.5301G>T (p.Leu1767=)
c.4755G>T (p.Leu1585=)
c.4482G>T (p.Leu1494=)
c.3933G>T (p.Leu1311=)
c.5847G>T (p.Leu1949=)
c.5571G>T (p.Leu1857=)
 dbSNP gnomAD v2 gnomAD v4
9g.115041035C=CA1874116357TNCc.490G=
c.3387G= (p.Leu1129=)
c.4209G= (p.Leu1403=)
c.2241G= (p.Leu747=)
c.897G= (p.Leu299=)
c.4256G=
c.5298G= (p.Leu1766=)
c.4752G= (p.Leu1584=)
c.4479G= (p.Leu1493=)
n.425G=
n.212G=
c.985G=
c.5025G= (p.Leu1675=)
c.4206G= (p.Leu1402=)
c.3660G= (p.Leu1220=)
c.5574G= (p.Leu1858=)
c.5301G= (p.Leu1767=)
c.4755G= (p.Leu1585=)
c.4482G= (p.Leu1494=)
c.3933G= (p.Leu1311=)
c.5847G= (p.Leu1949=)
c.5571G= (p.Leu1857=)
9g.115041035C>GCA466791006TNCc.490G>C
c.3387G>C (p.Leu1129=)
c.4209G>C (p.Leu1403=)
c.2241G>C (p.Leu747=)
c.897G>C (p.Leu299=)
c.4256G>C
c.5298G>C (p.Leu1766=)
c.4752G>C (p.Leu1584=)
c.4479G>C (p.Leu1493=)
n.425G>C
n.212G>C
c.985G>C
c.5025G>C (p.Leu1675=)
c.4206G>C (p.Leu1402=)
c.3660G>C (p.Leu1220=)
c.5574G>C (p.Leu1858=)
c.5301G>C (p.Leu1767=)
c.4755G>C (p.Leu1585=)
c.4482G>C (p.Leu1494=)
c.3933G>C (p.Leu1311=)
c.5847G>C (p.Leu1949=)
c.5571G>C (p.Leu1857=)
9g.115041035C>TCA466791005TNCc.490G>A
c.3387G>A (p.Leu1129=)
c.4209G>A (p.Leu1403=)
c.2241G>A (p.Leu747=)
c.897G>A (p.Leu299=)
c.4256G>A
c.5298G>A (p.Leu1766=)
c.4752G>A (p.Leu1584=)
c.4479G>A (p.Leu1493=)
n.425G>A
n.212G>A
c.985G>A
c.5025G>A (p.Leu1675=)
c.4206G>A (p.Leu1402=)
c.3660G>A (p.Leu1220=)
c.5574G>A (p.Leu1858=)
c.5301G>A (p.Leu1767=)
c.4755G>A (p.Leu1585=)
c.4482G>A (p.Leu1494=)
c.3933G>A (p.Leu1311=)
c.5847G>A (p.Leu1949=)
c.5571G>A (p.Leu1857=)
9g.115041036A>CCA374629399TNCc.489T>G
c.3386T>G (p.Leu1129Arg)
c.4208T>G (p.Leu1403Arg)
c.2240T>G (p.Leu747Arg)
c.896T>G (p.Leu299Arg)
c.4255T>G
c.5297T>G (p.Leu1766Arg)
c.4751T>G (p.Leu1584Arg)
c.4478T>G (p.Leu1493Arg)
n.424T>G
n.211T>G
c.984T>G
c.5024T>G (p.Leu1675Arg)
c.4205T>G (p.Leu1402Arg)
c.3659T>G (p.Leu1220Arg)
c.5573T>G (p.Leu1858Arg)
c.5300T>G (p.Leu1767Arg)
c.4754T>G (p.Leu1585Arg)
c.4481T>G (p.Leu1494Arg)
c.3932T>G (p.Leu1311Arg)
c.5846T>G (p.Leu1949Arg)
c.5570T>G (p.Leu1857Arg)
9g.115041036A>GCA374629402TNCc.489T>C
c.3386T>C (p.Leu1129Pro)
c.4208T>C (p.Leu1403Pro)
c.2240T>C (p.Leu747Pro)
c.896T>C (p.Leu299Pro)
c.4255T>C
c.5297T>C (p.Leu1766Pro)
c.4751T>C (p.Leu1584Pro)
c.4478T>C (p.Leu1493Pro)
n.424T>C
n.211T>C
c.984T>C
c.5024T>C (p.Leu1675Pro)
c.4205T>C (p.Leu1402Pro)
c.3659T>C (p.Leu1220Pro)
c.5573T>C (p.Leu1858Pro)
c.5300T>C (p.Leu1767Pro)
c.4754T>C (p.Leu1585Pro)
c.4481T>C (p.Leu1494Pro)
c.3932T>C (p.Leu1311Pro)
c.5846T>C (p.Leu1949Pro)
c.5570T>C (p.Leu1857Pro)
 gnomAD v4
9g.115041036A>TCA374629400TNCc.489T>A
c.3386T>A (p.Leu1129Gln)
c.4208T>A (p.Leu1403Gln)
c.2240T>A (p.Leu747Gln)
c.896T>A (p.Leu299Gln)
c.4255T>A
c.5297T>A (p.Leu1766Gln)
c.4751T>A (p.Leu1584Gln)
c.4478T>A (p.Leu1493Gln)
n.424T>A
n.211T>A
c.984T>A
c.5024T>A (p.Leu1675Gln)
c.4205T>A (p.Leu1402Gln)
c.3659T>A (p.Leu1220Gln)
c.5573T>A (p.Leu1858Gln)
c.5300T>A (p.Leu1767Gln)
c.4754T>A (p.Leu1585Gln)
c.4481T>A (p.Leu1494Gln)
c.3932T>A (p.Leu1311Gln)
c.5846T>A (p.Leu1949Gln)
c.5570T>A (p.Leu1857Gln)
9g.115041037G>ACA466791007TNCc.488C>T
c.3385C>T (p.Leu1129=)
c.4207C>T (p.Leu1403=)
c.2239C>T (p.Leu747=)
c.895C>T (p.Leu299=)
c.4254C>T
c.5296C>T (p.Leu1766=)
c.4750C>T (p.Leu1584=)
c.4477C>T (p.Leu1493=)
n.423C>T
n.210C>T
c.983C>T
c.5023C>T (p.Leu1675=)
c.4204C>T (p.Leu1402=)
c.3658C>T (p.Leu1220=)
c.5572C>T (p.Leu1858=)
c.5299C>T (p.Leu1767=)
c.4753C>T (p.Leu1585=)
c.4480C>T (p.Leu1494=)
c.3931C>T (p.Leu1311=)
c.5845C>T (p.Leu1949=)
c.5569C>T (p.Leu1857=)
9g.115041037G>CCA374629404TNCc.488C>G
c.3385C>G (p.Leu1129Val)
c.4207C>G (p.Leu1403Val)
c.2239C>G (p.Leu747Val)
c.895C>G (p.Leu299Val)
c.4254C>G
c.5296C>G (p.Leu1766Val)
c.4750C>G (p.Leu1584Val)
c.4477C>G (p.Leu1493Val)
n.423C>G
n.210C>G
c.983C>G
c.5023C>G (p.Leu1675Val)
c.4204C>G (p.Leu1402Val)
c.3658C>G (p.Leu1220Val)
c.5572C>G (p.Leu1858Val)
c.5299C>G (p.Leu1767Val)
c.4753C>G (p.Leu1585Val)
c.4480C>G (p.Leu1494Val)
c.3931C>G (p.Leu1311Val)
c.5845C>G (p.Leu1949Val)
c.5569C>G (p.Leu1857Val)
 dbSNP gnomAD v4
9g.115041037G=CA1874116358TNCc.488C=
c.3385C= (p.Leu1129=)
c.4207C= (p.Leu1403=)
c.2239C= (p.Leu747=)
c.895C= (p.Leu299=)
c.4254C=
c.5296C= (p.Leu1766=)
c.4750C= (p.Leu1584=)
c.4477C= (p.Leu1493=)
n.423C=
n.210C=
c.983C=
c.5023C= (p.Leu1675=)
c.4204C= (p.Leu1402=)
c.3658C= (p.Leu1220=)
c.5572C= (p.Leu1858=)
c.5299C= (p.Leu1767=)
c.4753C= (p.Leu1585=)
c.4480C= (p.Leu1494=)
c.3931C= (p.Leu1311=)
c.5845C= (p.Leu1949=)
c.5569C= (p.Leu1857=)
9g.115041037G>TCA374629406TNCc.488C>A
c.3385C>A (p.Leu1129Met)
c.4207C>A (p.Leu1403Met)
c.2239C>A (p.Leu747Met)
c.895C>A (p.Leu299Met)
c.4254C>A
c.5296C>A (p.Leu1766Met)
c.4750C>A (p.Leu1584Met)
c.4477C>A (p.Leu1493Met)
n.423C>A
n.210C>A
c.983C>A
c.5023C>A (p.Leu1675Met)
c.4204C>A (p.Leu1402Met)
c.3658C>A (p.Leu1220Met)
c.5572C>A (p.Leu1858Met)
c.5299C>A (p.Leu1767Met)
c.4753C>A (p.Leu1585Met)
c.4480C>A (p.Leu1494Met)
c.3931C>A (p.Leu1311Met)
c.5845C>A (p.Leu1949Met)
c.5569C>A (p.Leu1857Met)
9g.115041038C>ACA374629408TNCc.487G>T
c.3384G>T (p.Arg1128Ser)
c.4206G>T (p.Arg1402Ser)
c.2238G>T (p.Arg746Ser)
c.894G>T (p.Arg298Ser)
c.4253G>T
c.5295G>T (p.Arg1765Ser)
c.4749G>T (p.Arg1583Ser)
c.4476G>T (p.Arg1492Ser)
n.422G>T
n.209G>T
c.982G>T
c.5022G>T (p.Arg1674Ser)
c.4203G>T (p.Arg1401Ser)
c.3657G>T (p.Arg1219Ser)
c.5571G>T (p.Arg1857Ser)
c.5298G>T (p.Arg1766Ser)
c.4752G>T (p.Arg1584Ser)
c.4479G>T (p.Arg1493Ser)
c.3930G>T (p.Arg1310Ser)
c.5844G>T (p.Arg1948Ser)
c.5568G>T (p.Arg1856Ser)
9g.115041038C=CA1874116359TNCc.487G=
c.3384G= (p.Arg1128=)
c.4206G= (p.Arg1402=)
c.2238G= (p.Arg746=)
c.894G= (p.Arg298=)
c.4253G=
c.5295G= (p.Arg1765=)
c.4749G= (p.Arg1583=)
c.4476G= (p.Arg1492=)
n.422G=
n.209G=
c.982G=
c.5022G= (p.Arg1674=)
c.4203G= (p.Arg1401=)
c.3657G= (p.Arg1219=)
c.5571G= (p.Arg1857=)
c.5298G= (p.Arg1766=)
c.4752G= (p.Arg1584=)
c.4479G= (p.Arg1493=)
c.3930G= (p.Arg1310=)
c.5844G= (p.Arg1948=)
c.5568G= (p.Arg1856=)
9g.115041038C>GCA374629410TNCc.487G>C
c.3384G>C (p.Arg1128Ser)
c.4206G>C (p.Arg1402Ser)
c.2238G>C (p.Arg746Ser)
c.894G>C (p.Arg298Ser)
c.4253G>C
c.5295G>C (p.Arg1765Ser)
c.4749G>C (p.Arg1583Ser)
c.4476G>C (p.Arg1492Ser)
n.422G>C
n.209G>C
c.982G>C
c.5022G>C (p.Arg1674Ser)
c.4203G>C (p.Arg1401Ser)
c.3657G>C (p.Arg1219Ser)
c.5571G>C (p.Arg1857Ser)
c.5298G>C (p.Arg1766Ser)
c.4752G>C (p.Arg1584Ser)
c.4479G>C (p.Arg1493Ser)
c.3930G>C (p.Arg1310Ser)
c.5844G>C (p.Arg1948Ser)
c.5568G>C (p.Arg1856Ser)
9g.115041038C>TCA5207694TNCc.487G>A
c.3384G>A (p.Arg1128=)
c.4206G>A (p.Arg1402=)
c.2238G>A (p.Arg746=)
c.894G>A (p.Arg298=)
c.4253G>A
c.5295G>A (p.Arg1765=)
c.4749G>A (p.Arg1583=)
c.4476G>A (p.Arg1492=)
n.422G>A
n.209G>A
c.982G>A
c.5022G>A (p.Arg1674=)
c.4203G>A (p.Arg1401=)
c.3657G>A (p.Arg1219=)
c.5571G>A (p.Arg1857=)
c.5298G>A (p.Arg1766=)
c.4752G>A (p.Arg1584=)
c.4479G>A (p.Arg1493=)
c.3930G>A (p.Arg1310=)
c.5844G>A (p.Arg1948=)
c.5568G>A (p.Arg1856=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041039C>ACA374629413TNCc.486G>T
c.3383G>T (p.Arg1128Met)
c.4205G>T (p.Arg1402Met)
c.2237G>T (p.Arg746Met)
c.893G>T (p.Arg298Met)
c.4252G>T
c.5294G>T (p.Arg1765Met)
c.4748G>T (p.Arg1583Met)
c.4475G>T (p.Arg1492Met)
n.421G>T
n.208G>T
c.981G>T
c.5021G>T (p.Arg1674Met)
c.4202G>T (p.Arg1401Met)
c.3656G>T (p.Arg1219Met)
c.5570G>T (p.Arg1857Met)
c.5297G>T (p.Arg1766Met)
c.4751G>T (p.Arg1584Met)
c.4478G>T (p.Arg1493Met)
c.3929G>T (p.Arg1310Met)
c.5843G>T (p.Arg1948Met)
c.5567G>T (p.Arg1856Met)
9g.115041039C=CA1874116360TNCc.486G=
c.3383G= (p.Arg1128=)
c.4205G= (p.Arg1402=)
c.2237G= (p.Arg746=)
c.893G= (p.Arg298=)
c.4252G=
c.5294G= (p.Arg1765=)
c.4748G= (p.Arg1583=)
c.4475G= (p.Arg1492=)
n.421G=
n.208G=
c.981G=
c.5021G= (p.Arg1674=)
c.4202G= (p.Arg1401=)
c.3656G= (p.Arg1219=)
c.5570G= (p.Arg1857=)
c.5297G= (p.Arg1766=)
c.4751G= (p.Arg1584=)
c.4478G= (p.Arg1493=)
c.3929G= (p.Arg1310=)
c.5843G= (p.Arg1948=)
c.5567G= (p.Arg1856=)
9g.115041039C>GCA374629415TNCc.486G>C
c.3383G>C (p.Arg1128Thr)
c.4205G>C (p.Arg1402Thr)
c.2237G>C (p.Arg746Thr)
c.893G>C (p.Arg298Thr)
c.4252G>C
c.5294G>C (p.Arg1765Thr)
c.4748G>C (p.Arg1583Thr)
c.4475G>C (p.Arg1492Thr)
n.421G>C
n.208G>C
c.981G>C
c.5021G>C (p.Arg1674Thr)
c.4202G>C (p.Arg1401Thr)
c.3656G>C (p.Arg1219Thr)
c.5570G>C (p.Arg1857Thr)
c.5297G>C (p.Arg1766Thr)
c.4751G>C (p.Arg1584Thr)
c.4478G>C (p.Arg1493Thr)
c.3929G>C (p.Arg1310Thr)
c.5843G>C (p.Arg1948Thr)
c.5567G>C (p.Arg1856Thr)
 dbSNP gnomAD v2
9g.115041039C>TCA374629417TNCc.486G>A
c.3383G>A (p.Arg1128Lys)
c.4205G>A (p.Arg1402Lys)
c.2237G>A (p.Arg746Lys)
c.893G>A (p.Arg298Lys)
c.4252G>A
c.5294G>A (p.Arg1765Lys)
c.4748G>A (p.Arg1583Lys)
c.4475G>A (p.Arg1492Lys)
n.421G>A
n.208G>A
c.981G>A
c.5021G>A (p.Arg1674Lys)
c.4202G>A (p.Arg1401Lys)
c.3656G>A (p.Arg1219Lys)
c.5570G>A (p.Arg1857Lys)
c.5297G>A (p.Arg1766Lys)
c.4751G>A (p.Arg1584Lys)
c.4478G>A (p.Arg1493Lys)
c.3929G>A (p.Arg1310Lys)
c.5843G>A (p.Arg1948Lys)
c.5567G>A (p.Arg1856Lys)
9g.115041040T>ACA374629419TNCc.485A>T
c.3382A>T (p.Arg1128Trp)
c.4204A>T (p.Arg1402Trp)
c.2236A>T (p.Arg746Trp)
c.892A>T (p.Arg298Trp)
c.4251A>T
c.5293A>T (p.Arg1765Trp)
c.4747A>T (p.Arg1583Trp)
c.4474A>T (p.Arg1492Trp)
n.420A>T
n.207A>T
c.980A>T
c.5020A>T (p.Arg1674Trp)
c.4201A>T (p.Arg1401Trp)
c.3655A>T (p.Arg1219Trp)
c.5569A>T (p.Arg1857Trp)
c.5296A>T (p.Arg1766Trp)
c.4750A>T (p.Arg1584Trp)
c.4477A>T (p.Arg1493Trp)
c.3928A>T (p.Arg1310Trp)
c.5842A>T (p.Arg1948Trp)
c.5566A>T (p.Arg1856Trp)
9g.115041040T>CCA374629420TNCc.485A>G
c.3382A>G (p.Arg1128Gly)
c.4204A>G (p.Arg1402Gly)
c.2236A>G (p.Arg746Gly)
c.892A>G (p.Arg298Gly)
c.4251A>G
c.5293A>G (p.Arg1765Gly)
c.4747A>G (p.Arg1583Gly)
c.4474A>G (p.Arg1492Gly)
n.420A>G
n.207A>G
c.980A>G
c.5020A>G (p.Arg1674Gly)
c.4201A>G (p.Arg1401Gly)
c.3655A>G (p.Arg1219Gly)
c.5569A>G (p.Arg1857Gly)
c.5296A>G (p.Arg1766Gly)
c.4750A>G (p.Arg1584Gly)
c.4477A>G (p.Arg1493Gly)
c.3928A>G (p.Arg1310Gly)
c.5842A>G (p.Arg1948Gly)
c.5566A>G (p.Arg1856Gly)
9g.115041040T>GCA466791008TNCc.485A>C
c.3382A>C (p.Arg1128=)
c.4204A>C (p.Arg1402=)
c.2236A>C (p.Arg746=)
c.892A>C (p.Arg298=)
c.4251A>C
c.5293A>C (p.Arg1765=)
c.4747A>C (p.Arg1583=)
c.4474A>C (p.Arg1492=)
n.420A>C
n.207A>C
c.980A>C
c.5020A>C (p.Arg1674=)
c.4201A>C (p.Arg1401=)
c.3655A>C (p.Arg1219=)
c.5569A>C (p.Arg1857=)
c.5296A>C (p.Arg1766=)
c.4750A>C (p.Arg1584=)
c.4477A>C (p.Arg1493=)
c.3928A>C (p.Arg1310=)
c.5842A>C (p.Arg1948=)
c.5566A>C (p.Arg1856=)
9g.115041041G>ACA466791009TNCc.484C>T
c.3381C>T (p.Thr1127=)
c.4203C>T (p.Thr1401=)
c.2235C>T (p.Thr745=)
c.891C>T (p.Thr297=)
c.4250C>T
c.5292C>T (p.Thr1764=)
c.4746C>T (p.Thr1582=)
c.4473C>T (p.Thr1491=)
n.419C>T
n.206C>T
c.979C>T
c.5019C>T (p.Thr1673=)
c.4200C>T (p.Thr1400=)
c.3654C>T (p.Thr1218=)
c.5568C>T (p.Thr1856=)
c.5295C>T (p.Thr1765=)
c.4749C>T (p.Thr1583=)
c.4476C>T (p.Thr1492=)
c.3927C>T (p.Thr1309=)
c.5841C>T (p.Thr1947=)
c.5565C>T (p.Thr1855=)
 dbSNP
9g.115041041G>CCA466791010TNCc.484C>G
c.3381C>G (p.Thr1127=)
c.4203C>G (p.Thr1401=)
c.2235C>G (p.Thr745=)
c.891C>G (p.Thr297=)
c.4250C>G
c.5292C>G (p.Thr1764=)
c.4746C>G (p.Thr1582=)
c.4473C>G (p.Thr1491=)
n.419C>G
n.206C>G
c.979C>G
c.5019C>G (p.Thr1673=)
c.4200C>G (p.Thr1400=)
c.3654C>G (p.Thr1218=)
c.5568C>G (p.Thr1856=)
c.5295C>G (p.Thr1765=)
c.4749C>G (p.Thr1583=)
c.4476C>G (p.Thr1492=)
c.3927C>G (p.Thr1309=)
c.5841C>G (p.Thr1947=)
c.5565C>G (p.Thr1855=)
9g.115041041G=CA1874116361TNCc.484C=
c.3381C= (p.Thr1127=)
c.4203C= (p.Thr1401=)
c.2235C= (p.Thr745=)
c.891C= (p.Thr297=)
c.4250C=
c.5292C= (p.Thr1764=)
c.4746C= (p.Thr1582=)
c.4473C= (p.Thr1491=)
n.419C=
n.206C=
c.979C=
c.5019C= (p.Thr1673=)
c.4200C= (p.Thr1400=)
c.3654C= (p.Thr1218=)
c.5568C= (p.Thr1856=)
c.5295C= (p.Thr1765=)
c.4749C= (p.Thr1583=)
c.4476C= (p.Thr1492=)
c.3927C= (p.Thr1309=)
c.5841C= (p.Thr1947=)
c.5565C= (p.Thr1855=)
9g.115041041G>TCA466791011TNCc.484C>A
c.3381C>A (p.Thr1127=)
c.4203C>A (p.Thr1401=)
c.2235C>A (p.Thr745=)
c.891C>A (p.Thr297=)
c.4250C>A
c.5292C>A (p.Thr1764=)
c.4746C>A (p.Thr1582=)
c.4473C>A (p.Thr1491=)
n.419C>A
n.206C>A
c.979C>A
c.5019C>A (p.Thr1673=)
c.4200C>A (p.Thr1400=)
c.3654C>A (p.Thr1218=)
c.5568C>A (p.Thr1856=)
c.5295C>A (p.Thr1765=)
c.4749C>A (p.Thr1583=)
c.4476C>A (p.Thr1492=)
c.3927C>A (p.Thr1309=)
c.5841C>A (p.Thr1947=)
c.5565C>A (p.Thr1855=)
9g.115041042G>ACA374629425TNCc.483C>T
c.3380C>T (p.Thr1127Ile)
c.4202C>T (p.Thr1401Ile)
c.2234C>T (p.Thr745Ile)
c.890C>T (p.Thr297Ile)
c.4249C>T
c.5291C>T (p.Thr1764Ile)
c.4745C>T (p.Thr1582Ile)
c.4472C>T (p.Thr1491Ile)
n.418C>T
n.205C>T
c.978C>T
c.5018C>T (p.Thr1673Ile)
c.4199C>T (p.Thr1400Ile)
c.3653C>T (p.Thr1218Ile)
c.5567C>T (p.Thr1856Ile)
c.5294C>T (p.Thr1765Ile)
c.4748C>T (p.Thr1583Ile)
c.4475C>T (p.Thr1492Ile)
c.3926C>T (p.Thr1309Ile)
c.5840C>T (p.Thr1947Ile)
c.5564C>T (p.Thr1855Ile)
9g.115041042G>CCA374629423TNCc.483C>G
c.3380C>G (p.Thr1127Ser)
c.4202C>G (p.Thr1401Ser)
c.2234C>G (p.Thr745Ser)
c.890C>G (p.Thr297Ser)
c.4249C>G
c.5291C>G (p.Thr1764Ser)
c.4745C>G (p.Thr1582Ser)
c.4472C>G (p.Thr1491Ser)
n.418C>G
n.205C>G
c.978C>G
c.5018C>G (p.Thr1673Ser)
c.4199C>G (p.Thr1400Ser)
c.3653C>G (p.Thr1218Ser)
c.5567C>G (p.Thr1856Ser)
c.5294C>G (p.Thr1765Ser)
c.4748C>G (p.Thr1583Ser)
c.4475C>G (p.Thr1492Ser)
c.3926C>G (p.Thr1309Ser)
c.5840C>G (p.Thr1947Ser)
c.5564C>G (p.Thr1855Ser)
9g.115041042G>TCA374629422TNCc.483C>A
c.3380C>A (p.Thr1127Asn)
c.4202C>A (p.Thr1401Asn)
c.2234C>A (p.Thr745Asn)
c.890C>A (p.Thr297Asn)
c.4249C>A
c.5291C>A (p.Thr1764Asn)
c.4745C>A (p.Thr1582Asn)
c.4472C>A (p.Thr1491Asn)
n.418C>A
n.205C>A
c.978C>A
c.5018C>A (p.Thr1673Asn)
c.4199C>A (p.Thr1400Asn)
c.3653C>A (p.Thr1218Asn)
c.5567C>A (p.Thr1856Asn)
c.5294C>A (p.Thr1765Asn)
c.4748C>A (p.Thr1583Asn)
c.4475C>A (p.Thr1492Asn)
c.3926C>A (p.Thr1309Asn)
c.5840C>A (p.Thr1947Asn)
c.5564C>A (p.Thr1855Asn)
 gnomAD v4
9g.115041043T>ACA374629427TNCc.482A>T
c.3379A>T (p.Thr1127Ser)
c.4201A>T (p.Thr1401Ser)
c.2233A>T (p.Thr745Ser)
c.889A>T (p.Thr297Ser)
c.4248A>T
c.5290A>T (p.Thr1764Ser)
c.4744A>T (p.Thr1582Ser)
c.4471A>T (p.Thr1491Ser)
n.417A>T
n.204A>T
c.977A>T
c.5017A>T (p.Thr1673Ser)
c.4198A>T (p.Thr1400Ser)
c.3652A>T (p.Thr1218Ser)
c.5566A>T (p.Thr1856Ser)
c.5293A>T (p.Thr1765Ser)
c.4747A>T (p.Thr1583Ser)
c.4474A>T (p.Thr1492Ser)
c.3925A>T (p.Thr1309Ser)
c.5839A>T (p.Thr1947Ser)
c.5563A>T (p.Thr1855Ser)
 gnomAD v4
9g.115041043T>CCA374629428TNCc.482A>G
c.3379A>G (p.Thr1127Ala)
c.4201A>G (p.Thr1401Ala)
c.2233A>G (p.Thr745Ala)
c.889A>G (p.Thr297Ala)
c.4248A>G
c.5290A>G (p.Thr1764Ala)
c.4744A>G (p.Thr1582Ala)
c.4471A>G (p.Thr1491Ala)
n.417A>G
n.204A>G
c.977A>G
c.5017A>G (p.Thr1673Ala)
c.4198A>G (p.Thr1400Ala)
c.3652A>G (p.Thr1218Ala)
c.5566A>G (p.Thr1856Ala)
c.5293A>G (p.Thr1765Ala)
c.4747A>G (p.Thr1583Ala)
c.4474A>G (p.Thr1492Ala)
c.3925A>G (p.Thr1309Ala)
c.5839A>G (p.Thr1947Ala)
c.5563A>G (p.Thr1855Ala)
9g.115041043T>GCA374629429TNCc.482A>C
c.3379A>C (p.Thr1127Pro)
c.4201A>C (p.Thr1401Pro)
c.2233A>C (p.Thr745Pro)
c.889A>C (p.Thr297Pro)
c.4248A>C
c.5290A>C (p.Thr1764Pro)
c.4744A>C (p.Thr1582Pro)
c.4471A>C (p.Thr1491Pro)
n.417A>C
n.204A>C
c.977A>C
c.5017A>C (p.Thr1673Pro)
c.4198A>C (p.Thr1400Pro)
c.3652A>C (p.Thr1218Pro)
c.5566A>C (p.Thr1856Pro)
c.5293A>C (p.Thr1765Pro)
c.4747A>C (p.Thr1583Pro)
c.4474A>C (p.Thr1492Pro)
c.3925A>C (p.Thr1309Pro)
c.5839A>C (p.Thr1947Pro)
c.5563A>C (p.Thr1855Pro)
9g.115041044C>ACA374629432TNCc.481G>T
c.3378G>T (p.Gln1126His)
c.4200G>T (p.Gln1400His)
c.2232G>T (p.Gln744His)
c.888G>T (p.Gln296His)
c.4247G>T
c.5289G>T (p.Gln1763His)
c.4743G>T (p.Gln1581His)
c.4470G>T (p.Gln1490His)
n.416G>T
n.203G>T
c.976G>T
c.5016G>T (p.Gln1672His)
c.4197G>T (p.Gln1399His)
c.3651G>T (p.Gln1217His)
c.5565G>T (p.Gln1855His)
c.5292G>T (p.Gln1764His)
c.4746G>T (p.Gln1582His)
c.4473G>T (p.Gln1491His)
c.3924G>T (p.Gln1308His)
c.5838G>T (p.Gln1946His)
c.5562G>T (p.Gln1854His)
9g.115041044C=CA1874116362TNCc.481G=
c.3378G= (p.Gln1126=)
c.4200G= (p.Gln1400=)
c.2232G= (p.Gln744=)
c.888G= (p.Gln296=)
c.4247G=
c.5289G= (p.Gln1763=)
c.4743G= (p.Gln1581=)
c.4470G= (p.Gln1490=)
n.416G=
n.203G=
c.976G=
c.5016G= (p.Gln1672=)
c.4197G= (p.Gln1399=)
c.3651G= (p.Gln1217=)
c.5565G= (p.Gln1855=)
c.5292G= (p.Gln1764=)
c.4746G= (p.Gln1582=)
c.4473G= (p.Gln1491=)
c.3924G= (p.Gln1308=)
c.5838G= (p.Gln1946=)
c.5562G= (p.Gln1854=)
9g.115041044C>GCA374629433TNCc.481G>C
c.3378G>C (p.Gln1126His)
c.4200G>C (p.Gln1400His)
c.2232G>C (p.Gln744His)
c.888G>C (p.Gln296His)
c.4247G>C
c.5289G>C (p.Gln1763His)
c.4743G>C (p.Gln1581His)
c.4470G>C (p.Gln1490His)
n.416G>C
n.203G>C
c.976G>C
c.5016G>C (p.Gln1672His)
c.4197G>C (p.Gln1399His)
c.3651G>C (p.Gln1217His)
c.5565G>C (p.Gln1855His)
c.5292G>C (p.Gln1764His)
c.4746G>C (p.Gln1582His)
c.4473G>C (p.Gln1491His)
c.3924G>C (p.Gln1308His)
c.5838G>C (p.Gln1946His)
c.5562G>C (p.Gln1854His)
9g.115041044C>TCA5207695TNCc.481G>A
c.3378G>A (p.Gln1126=)
c.4200G>A (p.Gln1400=)
c.2232G>A (p.Gln744=)
c.888G>A (p.Gln296=)
c.4247G>A
c.5289G>A (p.Gln1763=)
c.4743G>A (p.Gln1581=)
c.4470G>A (p.Gln1490=)
n.416G>A
n.203G>A
c.976G>A
c.5016G>A (p.Gln1672=)
c.4197G>A (p.Gln1399=)
c.3651G>A (p.Gln1217=)
c.5565G>A (p.Gln1855=)
c.5292G>A (p.Gln1764=)
c.4746G>A (p.Gln1582=)
c.4473G>A (p.Gln1491=)
c.3924G>A (p.Gln1308=)
c.5838G>A (p.Gln1946=)
c.5562G>A (p.Gln1854=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041045T>ACA374629436TNCc.480A>T
c.3377A>T (p.Gln1126Leu)
c.4199A>T (p.Gln1400Leu)
c.2231A>T (p.Gln744Leu)
c.887A>T (p.Gln296Leu)
c.4246A>T
c.5288A>T (p.Gln1763Leu)
c.4742A>T (p.Gln1581Leu)
c.4469A>T (p.Gln1490Leu)
n.415A>T
n.202A>T
c.975A>T
c.5015A>T (p.Gln1672Leu)
c.4196A>T (p.Gln1399Leu)
c.3650A>T (p.Gln1217Leu)
c.5564A>T (p.Gln1855Leu)
c.5291A>T (p.Gln1764Leu)
c.4745A>T (p.Gln1582Leu)
c.4472A>T (p.Gln1491Leu)
c.3923A>T (p.Gln1308Leu)
c.5837A>T (p.Gln1946Leu)
c.5561A>T (p.Gln1854Leu)
9g.115041045T>CCA374629438TNCc.480A>G
c.3377A>G (p.Gln1126Arg)
c.4199A>G (p.Gln1400Arg)
c.2231A>G (p.Gln744Arg)
c.887A>G (p.Gln296Arg)
c.4246A>G
c.5288A>G (p.Gln1763Arg)
c.4742A>G (p.Gln1581Arg)
c.4469A>G (p.Gln1490Arg)
n.415A>G
n.202A>G
c.975A>G
c.5015A>G (p.Gln1672Arg)
c.4196A>G (p.Gln1399Arg)
c.3650A>G (p.Gln1217Arg)
c.5564A>G (p.Gln1855Arg)
c.5291A>G (p.Gln1764Arg)
c.4745A>G (p.Gln1582Arg)
c.4472A>G (p.Gln1491Arg)
c.3923A>G (p.Gln1308Arg)
c.5837A>G (p.Gln1946Arg)
c.5561A>G (p.Gln1854Arg)
9g.115041045T>GCA374629440TNCc.480A>C
c.3377A>C (p.Gln1126Pro)
c.4199A>C (p.Gln1400Pro)
c.2231A>C (p.Gln744Pro)
c.887A>C (p.Gln296Pro)
c.4246A>C
c.5288A>C (p.Gln1763Pro)
c.4742A>C (p.Gln1581Pro)
c.4469A>C (p.Gln1490Pro)
n.415A>C
n.202A>C
c.975A>C
c.5015A>C (p.Gln1672Pro)
c.4196A>C (p.Gln1399Pro)
c.3650A>C (p.Gln1217Pro)
c.5564A>C (p.Gln1855Pro)
c.5291A>C (p.Gln1764Pro)
c.4745A>C (p.Gln1582Pro)
c.4472A>C (p.Gln1491Pro)
c.3923A>C (p.Gln1308Pro)
c.5837A>C (p.Gln1946Pro)
c.5561A>C (p.Gln1854Pro)
9g.115041046G>ACA374629442TNCc.479C>T
c.3376C>T (p.Gln1126Ter)
c.4198C>T (p.Gln1400Ter)
c.2230C>T (p.Gln744Ter)
c.886C>T (p.Gln296Ter)
c.4245C>T
c.5287C>T (p.Gln1763Ter)
c.4741C>T (p.Gln1581Ter)
c.4468C>T (p.Gln1490Ter)
n.414C>T
n.201C>T
c.974C>T
c.5014C>T (p.Gln1672Ter)
c.4195C>T (p.Gln1399Ter)
c.3649C>T (p.Gln1217Ter)
c.5563C>T (p.Gln1855Ter)
c.5290C>T (p.Gln1764Ter)
c.4744C>T (p.Gln1582Ter)
c.4471C>T (p.Gln1491Ter)
c.3922C>T (p.Gln1308Ter)
c.5836C>T (p.Gln1946Ter)
c.5560C>T (p.Gln1854Ter)
 COSMIC
9g.115041046G>CCA374629443TNCc.479C>G
c.3376C>G (p.Gln1126Glu)
c.4198C>G (p.Gln1400Glu)
c.2230C>G (p.Gln744Glu)
c.886C>G (p.Gln296Glu)
c.4245C>G
c.5287C>G (p.Gln1763Glu)
c.4741C>G (p.Gln1581Glu)
c.4468C>G (p.Gln1490Glu)
n.414C>G
n.201C>G
c.974C>G
c.5014C>G (p.Gln1672Glu)
c.4195C>G (p.Gln1399Glu)
c.3649C>G (p.Gln1217Glu)
c.5563C>G (p.Gln1855Glu)
c.5290C>G (p.Gln1764Glu)
c.4744C>G (p.Gln1582Glu)
c.4471C>G (p.Gln1491Glu)
c.3922C>G (p.Gln1308Glu)
c.5836C>G (p.Gln1946Glu)
c.5560C>G (p.Gln1854Glu)
9g.115041046G>TCA374629446TNCc.479C>A
c.3376C>A (p.Gln1126Lys)
c.4198C>A (p.Gln1400Lys)
c.2230C>A (p.Gln744Lys)
c.886C>A (p.Gln296Lys)
c.4245C>A
c.5287C>A (p.Gln1763Lys)
c.4741C>A (p.Gln1581Lys)
c.4468C>A (p.Gln1490Lys)
n.414C>A
n.201C>A
c.974C>A
c.5014C>A (p.Gln1672Lys)
c.4195C>A (p.Gln1399Lys)
c.3649C>A (p.Gln1217Lys)
c.5563C>A (p.Gln1855Lys)
c.5290C>A (p.Gln1764Lys)
c.4744C>A (p.Gln1582Lys)
c.4471C>A (p.Gln1491Lys)
c.3922C>A (p.Gln1308Lys)
c.5836C>A (p.Gln1946Lys)
c.5560C>A (p.Gln1854Lys)

Number of alleles fetched