Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36219836_36219839delCA916083045CLTA,GNEc.1909+3_1909+6del
c.1639+3_1639+6del
c.1816+3_1816+6del
c.1594+3_1594+6del
c.485+15657_485+15660del (n.485+15657_485+15660del)
c.1486+3_1486+6del
c.1801+3_1801+6del
c.1756+3_1756+6del
c.1663+3_1663+6del
 ClinVar dbSNP
9g.36219836A=CA1846328315CLTA,GNEc.1909+2T= (n.1909+2T=)
c.1639+2T= (n.1639+2T=)
c.1816+2T= (n.1816+2T=)
c.1594+2T= (n.1594+2T=)
c.485+15657A= (n.485+15657A=)
c.1486+2T= (n.1486+2T=)
c.1801+2T= (n.1801+2T=)
c.1756+2T= (n.1756+2T=)
c.1663+2T= (n.1663+2T=)
9g.36219836A>CCA373425455CLTA,GNEc.1909+2T>G (n.1909+2T>G)
c.1639+2T>G (n.1639+2T>G)
c.1816+2T>G (n.1816+2T>G)
c.1594+2T>G (n.1594+2T>G)
c.485+15657A>C (n.485+15657A>C)
c.1486+2T>G (n.1486+2T>G)
c.1801+2T>G (n.1801+2T>G)
c.1756+2T>G (n.1756+2T>G)
c.1663+2T>G (n.1663+2T>G)
9g.36219836A>GCA373425456CLTA,GNEc.1909+2T>C (n.1909+2T>C)
c.1639+2T>C (n.1639+2T>C)
c.1816+2T>C (n.1816+2T>C)
c.1594+2T>C (n.1594+2T>C)
c.485+15657A>G (n.485+15657A>G)
c.1486+2T>C (n.1486+2T>C)
c.1801+2T>C (n.1801+2T>C)
c.1756+2T>C (n.1756+2T>C)
c.1663+2T>C (n.1663+2T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36219836A>TCA373425457CLTA,GNEc.1909+2T>A (n.1909+2T>A)
c.1639+2T>A (n.1639+2T>A)
c.1816+2T>A (n.1816+2T>A)
c.1594+2T>A (n.1594+2T>A)
c.485+15657A>T (n.485+15657A>T)
c.1486+2T>A (n.1486+2T>A)
c.1801+2T>A (n.1801+2T>A)
c.1756+2T>A (n.1756+2T>A)
c.1663+2T>A (n.1663+2T>A)
9g.36219837C>ACA373425458CLTA,GNEc.1909+1G>T (n.1909+1G>T)
c.1639+1G>T (n.1639+1G>T)
c.1816+1G>T (n.1816+1G>T)
c.1594+1G>T (n.1594+1G>T)
c.485+15658C>A (n.485+15658C>A)
c.1486+1G>T (n.1486+1G>T)
c.1801+1G>T (n.1801+1G>T)
c.1756+1G>T (n.1756+1G>T)
c.1663+1G>T (n.1663+1G>T)
9g.36219837C>GCA373425459CLTA,GNEc.1909+1G>C (n.1909+1G>C)
c.1639+1G>C (n.1639+1G>C)
c.1816+1G>C (n.1816+1G>C)
c.1594+1G>C (n.1594+1G>C)
c.485+15658C>G (n.485+15658C>G)
c.1486+1G>C (n.1486+1G>C)
c.1801+1G>C (n.1801+1G>C)
c.1756+1G>C (n.1756+1G>C)
c.1663+1G>C (n.1663+1G>C)
9g.36219837C>TCA373425460CLTA,GNEc.1909+1G>A (n.1909+1G>A)
c.1639+1G>A (n.1639+1G>A)
c.1816+1G>A (n.1816+1G>A)
c.1594+1G>A (n.1594+1G>A)
c.485+15658C>T (n.485+15658C>T)
c.1486+1G>A (n.1486+1G>A)
c.1801+1G>A (n.1801+1G>A)
c.1756+1G>A (n.1756+1G>A)
c.1663+1G>A (n.1663+1G>A)
9g.36219838C>ACA373425461CLTA,GNEc.1909G>T (p.Glu637Ter)
c.1639G>T (p.Glu547Ter)
c.1816G>T (p.Glu606Ter)
c.1594G>T (p.Glu532Ter)
c.485+15659C>A (n.485+15659C>A)
c.1486G>T (p.Glu496Ter)
c.1801G>T (p.Glu601Ter)
c.1756G>T (p.Glu586Ter)
c.1663G>T (p.Glu555Ter)
9g.36219838C=CA1846328322CLTA,GNEc.1909G= (p.Glu637=)
c.1639G= (p.Glu547=)
c.1816G= (p.Glu606=)
c.1594G= (p.Glu532=)
c.485+15659C= (n.485+15659C=)
c.1486G= (p.Glu496=)
c.1801G= (p.Glu601=)
c.1756G= (p.Glu586=)
c.1663G= (p.Glu555=)
9g.36219838C>GCA373425462CLTA,GNEc.1909G>C (p.Glu637Gln)
c.1639G>C (p.Glu547Gln)
c.1816G>C (p.Glu606Gln)
c.1594G>C (p.Glu532Gln)
c.485+15659C>G (n.485+15659C>G)
c.1486G>C (p.Glu496Gln)
c.1801G>C (p.Glu601Gln)
c.1756G>C (p.Glu586Gln)
c.1663G>C (p.Glu555Gln)
9g.36219838C>TCA5056422CLTA,GNEc.1909G>A (p.Glu637Lys)
c.1639G>A (p.Glu547Lys)
c.1816G>A (p.Glu606Lys)
c.1594G>A (p.Glu532Lys)
c.485+15659C>T (n.485+15659C>T)
c.1486G>A (p.Glu496Lys)
c.1801G>A (p.Glu601Lys)
c.1756G>A (p.Glu586Lys)
c.1663G>A (p.Glu555Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219839A>CCA373425463CLTA,GNEc.1908T>G (p.Asp636Glu)
c.1638T>G (p.Asp546Glu)
c.1815T>G (p.Asp605Glu)
c.1593T>G (p.Asp531Glu)
c.485+15660A>C (n.485+15660A>C)
c.1485T>G (p.Asp495Glu)
c.1800T>G (p.Asp600Glu)
c.1755T>G (p.Asp585Glu)
c.1662T>G (p.Asp554Glu)
9g.36219839A>GCA464494929CLTA,GNEc.1908T>C (p.Asp636=)
c.1638T>C (p.Asp546=)
c.1815T>C (p.Asp605=)
c.1593T>C (p.Asp531=)
c.485+15660A>G (n.485+15660A>G)
c.1485T>C (p.Asp495=)
c.1800T>C (p.Asp600=)
c.1755T>C (p.Asp585=)
c.1662T>C (p.Asp554=)
9g.36219839A>TCA373425464CLTA,GNEc.1908T>A (p.Asp636Glu)
c.1638T>A (p.Asp546Glu)
c.1815T>A (p.Asp605Glu)
c.1593T>A (p.Asp531Glu)
c.485+15660A>T (n.485+15660A>T)
c.1485T>A (p.Asp495Glu)
c.1800T>A (p.Asp600Glu)
c.1755T>A (p.Asp585Glu)
c.1662T>A (p.Asp554Glu)
9g.36219840T>ACA373425465CLTA,GNEc.1907A>T (p.Asp636Val)
c.1637A>T (p.Asp546Val)
c.1814A>T (p.Asp605Val)
c.1592A>T (p.Asp531Val)
c.485+15661T>A (n.485+15661T>A)
c.1484A>T (p.Asp495Val)
c.1799A>T (p.Asp600Val)
c.1754A>T (p.Asp585Val)
c.1661A>T (p.Asp554Val)
9g.36219840T>CCA373425466CLTA,GNEc.1907A>G (p.Asp636Gly)
c.1637A>G (p.Asp546Gly)
c.1814A>G (p.Asp605Gly)
c.1592A>G (p.Asp531Gly)
c.485+15661T>C (n.485+15661T>C)
c.1484A>G (p.Asp495Gly)
c.1799A>G (p.Asp600Gly)
c.1754A>G (p.Asp585Gly)
c.1661A>G (p.Asp554Gly)
 gnomAD v4
9g.36219840T>GCA373425467CLTA,GNEc.1907A>C (p.Asp636Ala)
c.1637A>C (p.Asp546Ala)
c.1814A>C (p.Asp605Ala)
c.1592A>C (p.Asp531Ala)
c.485+15661T>G (n.485+15661T>G)
c.1484A>C (p.Asp495Ala)
c.1799A>C (p.Asp600Ala)
c.1754A>C (p.Asp585Ala)
c.1661A>C (p.Asp554Ala)
9g.36219841C>ACA373425468CLTA,GNEc.1906G>T (p.Asp636Tyr)
c.1636G>T (p.Asp546Tyr)
c.1813G>T (p.Asp605Tyr)
c.1591G>T (p.Asp531Tyr)
c.485+15662C>A (n.485+15662C>A)
c.1483G>T (p.Asp495Tyr)
c.1798G>T (p.Asp600Tyr)
c.1753G>T (p.Asp585Tyr)
c.1660G>T (p.Asp554Tyr)
 gnomAD v4
9g.36219841C>GCA373425469CLTA,GNEc.1906G>C (p.Asp636His)
c.1636G>C (p.Asp546His)
c.1813G>C (p.Asp605His)
c.1591G>C (p.Asp531His)
c.485+15662C>G (n.485+15662C>G)
c.1483G>C (p.Asp495His)
c.1798G>C (p.Asp600His)
c.1753G>C (p.Asp585His)
c.1660G>C (p.Asp554His)
9g.36219841C>TCA373425470CLTA,GNEc.1906G>A (p.Asp636Asn)
c.1636G>A (p.Asp546Asn)
c.1813G>A (p.Asp605Asn)
c.1591G>A (p.Asp531Asn)
c.485+15662C>T (n.485+15662C>T)
c.1483G>A (p.Asp495Asn)
c.1798G>A (p.Asp600Asn)
c.1753G>A (p.Asp585Asn)
c.1660G>A (p.Asp554Asn)
9g.36219842A=CA1846328331CLTA,GNEc.1905T= (p.His635=)
c.1635T= (p.His545=)
c.1812T= (p.His604=)
c.1590T= (p.His530=)
c.485+15663A= (n.485+15663A=)
c.1482T= (p.His494=)
c.1797T= (p.His599=)
c.1752T= (p.His584=)
c.1659T= (p.His553=)
9g.36219842A>CCA373425471CLTA,GNEc.1905T>G (p.His635Gln)
c.1635T>G (p.His545Gln)
c.1812T>G (p.His604Gln)
c.1590T>G (p.His530Gln)
c.485+15663A>C (n.485+15663A>C)
c.1482T>G (p.His494Gln)
c.1797T>G (p.His599Gln)
c.1752T>G (p.His584Gln)
c.1659T>G (p.His553Gln)
9g.36219842A>GCA192841294CLTA,GNEc.1905T>C (p.His635=)
c.1635T>C (p.His545=)
c.1812T>C (p.His604=)
c.1590T>C (p.His530=)
c.485+15663A>G (n.485+15663A>G)
c.1482T>C (p.His494=)
c.1797T>C (p.His599=)
c.1752T>C (p.His584=)
c.1659T>C (p.His553=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36219842A>TCA373425472CLTA,GNEc.1905T>A (p.His635Gln)
c.1635T>A (p.His545Gln)
c.1812T>A (p.His604Gln)
c.1590T>A (p.His530Gln)
c.485+15663A>T (n.485+15663A>T)
c.1482T>A (p.His494Gln)
c.1797T>A (p.His599Gln)
c.1752T>A (p.His584Gln)
c.1659T>A (p.His553Gln)
9g.36219843T>ACA373425473CLTA,GNEc.1904A>T (p.His635Leu)
c.1634A>T (p.His545Leu)
c.1811A>T (p.His604Leu)
c.1589A>T (p.His530Leu)
c.485+15664T>A (n.485+15664T>A)
c.1481A>T (p.His494Leu)
c.1796A>T (p.His599Leu)
c.1751A>T (p.His584Leu)
c.1658A>T (p.His553Leu)
9g.36219843T>CCA5056423CLTA,GNEc.1904A>G (p.His635Arg)
c.1634A>G (p.His545Arg)
c.1811A>G (p.His604Arg)
c.1589A>G (p.His530Arg)
c.485+15664T>C (n.485+15664T>C)
c.1481A>G (p.His494Arg)
c.1796A>G (p.His599Arg)
c.1751A>G (p.His584Arg)
c.1658A>G (p.His553Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219843T>GCA373425474CLTA,GNEc.1904A>C (p.His635Pro)
c.1634A>C (p.His545Pro)
c.1811A>C (p.His604Pro)
c.1589A>C (p.His530Pro)
c.485+15664T>G (n.485+15664T>G)
c.1481A>C (p.His494Pro)
c.1796A>C (p.His599Pro)
c.1751A>C (p.His584Pro)
c.1658A>C (p.His553Pro)
9g.36219843T=CA1846328335CLTA,GNEc.1904A= (p.His635=)
c.1634A= (p.His545=)
c.1811A= (p.His604=)
c.1589A= (p.His530=)
c.485+15664T= (n.485+15664T=)
c.1481A= (p.His494=)
c.1796A= (p.His599=)
c.1751A= (p.His584=)
c.1658A= (p.His553=)
9g.36219844G>ACA373425476CLTA,GNEc.1903C>T (p.His635Tyr)
c.1633C>T (p.His545Tyr)
c.1810C>T (p.His604Tyr)
c.1588C>T (p.His530Tyr)
c.485+15665G>A (n.485+15665G>A)
c.1480C>T (p.His494Tyr)
c.1795C>T (p.His599Tyr)
c.1750C>T (p.His584Tyr)
c.1657C>T (p.His553Tyr)
9g.36219844G>CCA373425477CLTA,GNEc.1903C>G (p.His635Asp)
c.1633C>G (p.His545Asp)
c.1810C>G (p.His604Asp)
c.1588C>G (p.His530Asp)
c.485+15665G>C (n.485+15665G>C)
c.1480C>G (p.His494Asp)
c.1795C>G (p.His599Asp)
c.1750C>G (p.His584Asp)
c.1657C>G (p.His553Asp)
9g.36219844G>TCA373425475CLTA,GNEc.1903C>A (p.His635Asn)
c.1633C>A (p.His545Asn)
c.1810C>A (p.His604Asn)
c.1588C>A (p.His530Asn)
c.485+15665G>T (n.485+15665G>T)
c.1480C>A (p.His494Asn)
c.1795C>A (p.His599Asn)
c.1750C>A (p.His584Asn)
c.1657C>A (p.His553Asn)
9g.36219845G>ACA464494931CLTA,GNEc.1902C>T (p.Leu634=)
c.1632C>T (p.Leu544=)
c.1809C>T (p.Leu603=)
c.1587C>T (p.Leu529=)
c.485+15666G>A (n.485+15666G>A)
c.1479C>T (p.Leu493=)
c.1794C>T (p.Leu598=)
c.1749C>T (p.Leu583=)
c.1656C>T (p.Leu552=)
9g.36219845G>CCA464494932CLTA,GNEc.1902C>G (p.Leu634=)
c.1632C>G (p.Leu544=)
c.1809C>G (p.Leu603=)
c.1587C>G (p.Leu529=)
c.485+15666G>C (n.485+15666G>C)
c.1479C>G (p.Leu493=)
c.1794C>G (p.Leu598=)
c.1749C>G (p.Leu583=)
c.1656C>G (p.Leu552=)
9g.36219845G>TCA464494930CLTA,GNEc.1902C>A (p.Leu634=)
c.1632C>A (p.Leu544=)
c.1809C>A (p.Leu603=)
c.1587C>A (p.Leu529=)
c.485+15666G>T (n.485+15666G>T)
c.1479C>A (p.Leu493=)
c.1794C>A (p.Leu598=)
c.1749C>A (p.Leu583=)
c.1656C>A (p.Leu552=)
9g.36219846A>CCA373425480CLTA,GNEc.1901T>G (p.Leu634Arg)
c.1631T>G (p.Leu544Arg)
c.1808T>G (p.Leu603Arg)
c.1586T>G (p.Leu529Arg)
c.485+15667A>C (n.485+15667A>C)
c.1478T>G (p.Leu493Arg)
c.1793T>G (p.Leu598Arg)
c.1748T>G (p.Leu583Arg)
c.1655T>G (p.Leu552Arg)
9g.36219846A>GCA373425478CLTA,GNEc.1901T>C (p.Leu634Pro)
c.1631T>C (p.Leu544Pro)
c.1808T>C (p.Leu603Pro)
c.1586T>C (p.Leu529Pro)
c.485+15667A>G (n.485+15667A>G)
c.1478T>C (p.Leu493Pro)
c.1793T>C (p.Leu598Pro)
c.1748T>C (p.Leu583Pro)
c.1655T>C (p.Leu552Pro)
9g.36219846A>TCA373425479CLTA,GNEc.1901T>A (p.Leu634His)
c.1631T>A (p.Leu544His)
c.1808T>A (p.Leu603His)
c.1586T>A (p.Leu529His)
c.485+15667A>T (n.485+15667A>T)
c.1478T>A (p.Leu493His)
c.1793T>A (p.Leu598His)
c.1748T>A (p.Leu583His)
c.1655T>A (p.Leu552His)
9g.36219847G>ACA5056424CLTA,GNEc.1900C>T (p.Leu634Phe)
c.1630C>T (p.Leu544Phe)
c.1807C>T (p.Leu603Phe)
c.1585C>T (p.Leu529Phe)
c.485+15668G>A (n.485+15668G>A)
c.1477C>T (p.Leu493Phe)
c.1792C>T (p.Leu598Phe)
c.1747C>T (p.Leu583Phe)
c.1654C>T (p.Leu552Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219847G>CCA373425481CLTA,GNEc.1900C>G (p.Leu634Val)
c.1630C>G (p.Leu544Val)
c.1807C>G (p.Leu603Val)
c.1585C>G (p.Leu529Val)
c.485+15668G>C (n.485+15668G>C)
c.1477C>G (p.Leu493Val)
c.1792C>G (p.Leu598Val)
c.1747C>G (p.Leu583Val)
c.1654C>G (p.Leu552Val)
9g.36219847G=CA1846328340CLTA,GNEc.1900C= (p.Leu634=)
c.1630C= (p.Leu544=)
c.1807C= (p.Leu603=)
c.1585C= (p.Leu529=)
c.485+15668G= (n.485+15668G=)
c.1477C= (p.Leu493=)
c.1792C= (p.Leu598=)
c.1747C= (p.Leu583=)
c.1654C= (p.Leu552=)
9g.36219847G>TCA373425482CLTA,GNEc.1900C>A (p.Leu634Ile)
c.1630C>A (p.Leu544Ile)
c.1807C>A (p.Leu603Ile)
c.1585C>A (p.Leu529Ile)
c.485+15668G>T (n.485+15668G>T)
c.1477C>A (p.Leu493Ile)
c.1792C>A (p.Leu598Ile)
c.1747C>A (p.Leu583Ile)
c.1654C>A (p.Leu552Ile)
9g.36219848C>ACA373425483CLTA,GNEc.1899G>T (p.Lys633Asn)
c.1629G>T (p.Lys543Asn)
c.1806G>T (p.Lys602Asn)
c.1584G>T (p.Lys528Asn)
c.485+15669C>A (n.485+15669C>A)
c.1476G>T (p.Lys492Asn)
c.1791G>T (p.Lys597Asn)
c.1746G>T (p.Lys582Asn)
c.1653G>T (p.Lys551Asn)
9g.36219848C=CA1846328342CLTA,GNEc.1899G= (p.Lys633=)
c.1629G= (p.Lys543=)
c.1806G= (p.Lys602=)
c.1584G= (p.Lys528=)
c.485+15669C= (n.485+15669C=)
c.1476G= (p.Lys492=)
c.1791G= (p.Lys597=)
c.1746G= (p.Lys582=)
c.1653G= (p.Lys551=)
9g.36219848C>GCA373425484CLTA,GNEc.1899G>C (p.Lys633Asn)
c.1629G>C (p.Lys543Asn)
c.1806G>C (p.Lys602Asn)
c.1584G>C (p.Lys528Asn)
c.485+15669C>G (n.485+15669C>G)
c.1476G>C (p.Lys492Asn)
c.1791G>C (p.Lys597Asn)
c.1746G>C (p.Lys582Asn)
c.1653G>C (p.Lys551Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36219848C>TCA464494933CLTA,GNEc.1899G>A (p.Lys633=)
c.1629G>A (p.Lys543=)
c.1806G>A (p.Lys602=)
c.1584G>A (p.Lys528=)
c.485+15669C>T (n.485+15669C>T)
c.1476G>A (p.Lys492=)
c.1791G>A (p.Lys597=)
c.1746G>A (p.Lys582=)
c.1653G>A (p.Lys551=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219849T>ACA373425485CLTA,GNEc.1898A>T (p.Lys633Met)
c.1628A>T (p.Lys543Met)
c.1805A>T (p.Lys602Met)
c.1583A>T (p.Lys528Met)
c.485+15670T>A (n.485+15670T>A)
c.1475A>T (p.Lys492Met)
c.1790A>T (p.Lys597Met)
c.1745A>T (p.Lys582Met)
c.1652A>T (p.Lys551Met)
9g.36219849T>CCA373425486CLTA,GNEc.1898A>G (p.Lys633Arg)
c.1628A>G (p.Lys543Arg)
c.1805A>G (p.Lys602Arg)
c.1583A>G (p.Lys528Arg)
c.485+15670T>C (n.485+15670T>C)
c.1475A>G (p.Lys492Arg)
c.1790A>G (p.Lys597Arg)
c.1745A>G (p.Lys582Arg)
c.1652A>G (p.Lys551Arg)
9g.36219849T>GCA373425487CLTA,GNEc.1898A>C (p.Lys633Thr)
c.1628A>C (p.Lys543Thr)
c.1805A>C (p.Lys602Thr)
c.1583A>C (p.Lys528Thr)
c.485+15670T>G (n.485+15670T>G)
c.1475A>C (p.Lys492Thr)
c.1790A>C (p.Lys597Thr)
c.1745A>C (p.Lys582Thr)
c.1652A>C (p.Lys551Thr)
9g.36219854dupCA2689944990CLTA,GNEc.1898dup (p.Leu634AlafsTer3)
c.1628dup (p.Leu544AlafsTer3)
c.1805dup (p.Leu603AlafsTer3)
c.1583dup (p.Leu529AlafsTer3)
c.485+15675dup (n.485+15675dup)
c.1475dup (p.Leu493AlafsTer3)
c.1790dup (p.Leu598AlafsTer3)
c.1745dup (p.Leu583AlafsTer3)
c.1652dup (p.Leu552AlafsTer3)
 gnomAD v4
9g.36219850T>ACA373425488CLTA,GNEc.1897A>T (p.Lys633Ter)
c.1627A>T (p.Lys543Ter)
c.1804A>T (p.Lys602Ter)
c.1582A>T (p.Lys528Ter)
c.485+15671T>A (n.485+15671T>A)
c.1474A>T (p.Lys492Ter)
c.1789A>T (p.Lys597Ter)
c.1744A>T (p.Lys582Ter)
c.1651A>T (p.Lys551Ter)
9g.36219850T>CCA373425489CLTA,GNEc.1897A>G (p.Lys633Glu)
c.1627A>G (p.Lys543Glu)
c.1804A>G (p.Lys602Glu)
c.1582A>G (p.Lys528Glu)
c.485+15671T>C (n.485+15671T>C)
c.1474A>G (p.Lys492Glu)
c.1789A>G (p.Lys597Glu)
c.1744A>G (p.Lys582Glu)
c.1651A>G (p.Lys551Glu)
9g.36219850T>GCA373425490CLTA,GNEc.1897A>C (p.Lys633Gln)
c.1627A>C (p.Lys543Gln)
c.1804A>C (p.Lys602Gln)
c.1582A>C (p.Lys528Gln)
c.485+15671T>G (n.485+15671T>G)
c.1474A>C (p.Lys492Gln)
c.1789A>C (p.Lys597Gln)
c.1744A>C (p.Lys582Gln)
c.1651A>C (p.Lys551Gln)
 ClinVar dbSNP
9g.36219851T>ACA373425492CLTA,GNEc.1896A>T (p.Lys632Asn)
c.1626A>T (p.Lys542Asn)
c.1803A>T (p.Lys601Asn)
c.1581A>T (p.Lys527Asn)
c.485+15672T>A (n.485+15672T>A)
c.1473A>T (p.Lys491Asn)
c.1788A>T (p.Lys596Asn)
c.1743A>T (p.Lys581Asn)
c.1650A>T (p.Lys550Asn)
9g.36219851T>CCA464494934CLTA,GNEc.1896A>G (p.Lys632=)
c.1626A>G (p.Lys542=)
c.1803A>G (p.Lys601=)
c.1581A>G (p.Lys527=)
c.485+15672T>C (n.485+15672T>C)
c.1473A>G (p.Lys491=)
c.1788A>G (p.Lys596=)
c.1743A>G (p.Lys581=)
c.1650A>G (p.Lys550=)
9g.36219851T>GCA373425491CLTA,GNEc.1896A>C (p.Lys632Asn)
c.1626A>C (p.Lys542Asn)
c.1803A>C (p.Lys601Asn)
c.1581A>C (p.Lys527Asn)
c.485+15672T>G (n.485+15672T>G)
c.1473A>C (p.Lys491Asn)
c.1788A>C (p.Lys596Asn)
c.1743A>C (p.Lys581Asn)
c.1650A>C (p.Lys550Asn)
9g.36219852T>ACA373425493CLTA,GNEc.1895A>T (p.Lys632Ile)
c.1625A>T (p.Lys542Ile)
c.1802A>T (p.Lys601Ile)
c.1580A>T (p.Lys527Ile)
c.485+15673T>A (n.485+15673T>A)
c.1472A>T (p.Lys491Ile)
c.1787A>T (p.Lys596Ile)
c.1742A>T (p.Lys581Ile)
c.1649A>T (p.Lys550Ile)
9g.36219852T>CCA373425494CLTA,GNEc.1895A>G (p.Lys632Arg)
c.1625A>G (p.Lys542Arg)
c.1802A>G (p.Lys601Arg)
c.1580A>G (p.Lys527Arg)
c.485+15673T>C (n.485+15673T>C)
c.1472A>G (p.Lys491Arg)
c.1787A>G (p.Lys596Arg)
c.1742A>G (p.Lys581Arg)
c.1649A>G (p.Lys550Arg)
9g.36219852T>GCA373425495CLTA,GNEc.1895A>C (p.Lys632Thr)
c.1625A>C (p.Lys542Thr)
c.1802A>C (p.Lys601Thr)
c.1580A>C (p.Lys527Thr)
c.485+15673T>G (n.485+15673T>G)
c.1472A>C (p.Lys491Thr)
c.1787A>C (p.Lys596Thr)
c.1742A>C (p.Lys581Thr)
c.1649A>C (p.Lys550Thr)
9g.36219853T>ACA373425496CLTA,GNEc.1894A>T (p.Lys632Ter)
c.1624A>T (p.Lys542Ter)
c.1801A>T (p.Lys601Ter)
c.1579A>T (p.Lys527Ter)
c.485+15674T>A (n.485+15674T>A)
c.1471A>T (p.Lys491Ter)
c.1786A>T (p.Lys596Ter)
c.1741A>T (p.Lys581Ter)
c.1648A>T (p.Lys550Ter)
9g.36219853T>CCA373425497CLTA,GNEc.1894A>G (p.Lys632Glu)
c.1624A>G (p.Lys542Glu)
c.1801A>G (p.Lys601Glu)
c.1579A>G (p.Lys527Glu)
c.485+15674T>C (n.485+15674T>C)
c.1471A>G (p.Lys491Glu)
c.1786A>G (p.Lys596Glu)
c.1741A>G (p.Lys581Glu)
c.1648A>G (p.Lys550Glu)
9g.36219853T>GCA373425498CLTA,GNEc.1894A>C (p.Lys632Gln)
c.1624A>C (p.Lys542Gln)
c.1801A>C (p.Lys601Gln)
c.1579A>C (p.Lys527Gln)
c.485+15674T>G (n.485+15674T>G)
c.1471A>C (p.Lys491Gln)
c.1786A>C (p.Lys596Gln)
c.1741A>C (p.Lys581Gln)
c.1648A>C (p.Lys550Gln)
9g.36219854T>ACA464494935CLTA,GNEc.1893A>T (p.Ala631=)
c.1623A>T (p.Ala541=)
c.1800A>T (p.Ala600=)
c.1578A>T (p.Ala526=)
c.485+15675T>A (n.485+15675T>A)
c.1470A>T (p.Ala490=)
c.1785A>T (p.Ala595=)
c.1740A>T (p.Ala580=)
c.1647A>T (p.Ala549=)
9g.36219854T>CCA464494936CLTA,GNEc.1893A>G (p.Ala631=)
c.1623A>G (p.Ala541=)
c.1800A>G (p.Ala600=)
c.1578A>G (p.Ala526=)
c.485+15675T>C (n.485+15675T>C)
c.1470A>G (p.Ala490=)
c.1785A>G (p.Ala595=)
c.1740A>G (p.Ala580=)
c.1647A>G (p.Ala549=)
9g.36219854T>GCA464494937CLTA,GNEc.1893A>C (p.Ala631=)
c.1623A>C (p.Ala541=)
c.1800A>C (p.Ala600=)
c.1578A>C (p.Ala526=)
c.485+15675T>G (n.485+15675T>G)
c.1470A>C (p.Ala490=)
c.1785A>C (p.Ala595=)
c.1740A>C (p.Ala580=)
c.1647A>C (p.Ala549=)
9g.36219855_36219858delCA2689944991CLTA,GNEc.1890_1893del (p.Ala631LysfsTer?)
c.1620_1623del (p.Ala541LysfsTer?)
c.1797_1800del (p.Ala600LysfsTer?)
c.1575_1578del (p.Ala526LysfsTer?)
c.485+15676_485+15679del (n.485+15676_485+15679del)
c.1467_1470del (p.Ala490LysfsTer?)
c.1782_1785del (p.Ala595LysfsTer?)
c.1737_1740del (p.Ala580LysfsTer?)
c.1644_1647del (p.Ala549LysfsTer?)
 gnomAD v4
9g.36219854_36219861delinsTGCCTCCCCA1846328343CLTA,GNEc.1886_1893delinsGGGAGGCA (p.Arg629=)
c.1616_1623delinsGGGAGGCA (p.Arg539=)
c.1793_1800delinsGGGAGGCA (p.Arg598=)
c.1571_1578delinsGGGAGGCA (p.Arg524=)
c.485+15675_485+15682delinsTGCCTCCC (n.485+15675_485+15682delinsTGCCTCCC)
c.1463_1470delinsGGGAGGCA (p.Arg488=)
c.1778_1785delinsGGGAGGCA (p.Arg593=)
c.1733_1740delinsGGGAGGCA (p.Arg578=)
c.1640_1647delinsGGGAGGCA (p.Arg547=)
9g.36219855G>ACA373425499CLTA,GNEc.1892C>T (p.Ala631Val)
c.1622C>T (p.Ala541Val)
c.1799C>T (p.Ala600Val)
c.1577C>T (p.Ala526Val)
c.485+15676G>A (n.485+15676G>A)
c.1469C>T (p.Ala490Val)
c.1784C>T (p.Ala595Val)
c.1739C>T (p.Ala580Val)
c.1646C>T (p.Ala549Val)
9g.36219855G>CCA373425500CLTA,GNEc.1892C>G (p.Ala631Gly)
c.1622C>G (p.Ala541Gly)
c.1799C>G (p.Ala600Gly)
c.1577C>G (p.Ala526Gly)
c.485+15676G>C (n.485+15676G>C)
c.1469C>G (p.Ala490Gly)
c.1784C>G (p.Ala595Gly)
c.1739C>G (p.Ala580Gly)
c.1646C>G (p.Ala549Gly)
9g.36219855G>TCA373425501CLTA,GNEc.1892C>A (p.Ala631Glu)
c.1622C>A (p.Ala541Glu)
c.1799C>A (p.Ala600Glu)
c.1577C>A (p.Ala526Glu)
c.485+15676G>T (n.485+15676G>T)
c.1469C>A (p.Ala490Glu)
c.1784C>A (p.Ala595Glu)
c.1739C>A (p.Ala580Glu)
c.1646C>A (p.Ala549Glu)
9g.36219855_36219856delinsGCCA1846328346CLTA,GNEc.1891_1892delinsGC (p.Ala631=)
c.1621_1622delinsGC (p.Ala541=)
c.1798_1799delinsGC (p.Ala600=)
c.1576_1577delinsGC (p.Ala526=)
c.485+15676_485+15677delinsGC (n.485+15676_485+15677delinsGC)
c.1468_1469delinsGC (p.Ala490=)
c.1783_1784delinsGC (p.Ala595=)
c.1738_1739delinsGC (p.Ala580=)
c.1645_1646delinsGC (p.Ala549=)
9g.36219855_36219861delCA587786759CLTA,GNEc.1886_1892del (p.Arg629LysfsTer?)
c.1616_1622del (p.Arg539LysfsTer?)
c.1793_1799del (p.Arg598LysfsTer?)
c.1571_1577del (p.Arg524LysfsTer?)
c.485+15676_485+15682del (n.485+15676_485+15682del)
c.1463_1469del (p.Arg488LysfsTer?)
c.1778_1784del (p.Arg593LysfsTer?)
c.1733_1739del (p.Arg578LysfsTer?)
c.1640_1646del (p.Arg547LysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36219856C>ACA373425502CLTA,GNEc.1891G>T (p.Ala631Ser)
c.1621G>T (p.Ala541Ser)
c.1798G>T (p.Ala600Ser)
c.1576G>T (p.Ala526Ser)
c.485+15677C>A (n.485+15677C>A)
c.1468G>T (p.Ala490Ser)
c.1783G>T (p.Ala595Ser)
c.1738G>T (p.Ala580Ser)
c.1645G>T (p.Ala549Ser)
9g.36219856C=CA1846328356CLTA,GNEc.1891G= (p.Ala631=)
c.1621G= (p.Ala541=)
c.1798G= (p.Ala600=)
c.1576G= (p.Ala526=)
c.485+15677C= (n.485+15677C=)
c.1468G= (p.Ala490=)
c.1783G= (p.Ala595=)
c.1738G= (p.Ala580=)
c.1645G= (p.Ala549=)
9g.36219856C>GCA373425503CLTA,GNEc.1891G>C (p.Ala631Pro)
c.1621G>C (p.Ala541Pro)
c.1798G>C (p.Ala600Pro)
c.1576G>C (p.Ala526Pro)
c.485+15677C>G (n.485+15677C>G)
c.1468G>C (p.Ala490Pro)
c.1783G>C (p.Ala595Pro)
c.1738G>C (p.Ala580Pro)
c.1645G>C (p.Ala549Pro)
9g.36219856C>TCA10605332CLTA,GNEc.1891G>A (p.Ala631Thr)
c.1621G>A (p.Ala541Thr)
c.1798G>A (p.Ala600Thr)
c.1576G>A (p.Ala526Thr)
c.485+15677C>T (n.485+15677C>T)
c.1468G>A (p.Ala490Thr)
c.1783G>A (p.Ala595Thr)
c.1738G>A (p.Ala580Thr)
c.1645G>A (p.Ala549Thr)
 ClinVar dbSNP gnomAD v4
9g.36219857delCA863603977CLTA,GNEc.1891del (p.Ala631GlnfsTer?)
c.1621del (p.Ala541GlnfsTer?)
c.1798del (p.Ala600GlnfsTer?)
c.1576del (p.Ala526GlnfsTer?)
c.485+15678del (n.485+15678del)
c.1468del (p.Ala490GlnfsTer?)
c.1783del (p.Ala595GlnfsTer?)
c.1738del (p.Ala580GlnfsTer?)
c.1645del (p.Ala549GlnfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.36219857C>ACA373425505CLTA,GNEc.1890G>T (p.Glu630Asp)
c.1620G>T (p.Glu540Asp)
c.1797G>T (p.Glu599Asp)
c.1575G>T (p.Glu525Asp)
c.485+15678C>A (n.485+15678C>A)
c.1467G>T (p.Glu489Asp)
c.1782G>T (p.Glu594Asp)
c.1737G>T (p.Glu579Asp)
c.1644G>T (p.Glu548Asp)
9g.36219857C=CA1846328404CLTA,GNEc.1890G= (p.Glu630=)
c.1620G= (p.Glu540=)
c.1797G= (p.Glu599=)
c.1575G= (p.Glu525=)
c.485+15678C= (n.485+15678C=)
c.1467G= (p.Glu489=)
c.1782G= (p.Glu594=)
c.1737G= (p.Glu579=)
c.1644G= (p.Glu548=)
9g.36219857C>GCA373425504CLTA,GNEc.1890G>C (p.Glu630Asp)
c.1620G>C (p.Glu540Asp)
c.1797G>C (p.Glu599Asp)
c.1575G>C (p.Glu525Asp)
c.485+15678C>G (n.485+15678C>G)
c.1467G>C (p.Glu489Asp)
c.1782G>C (p.Glu594Asp)
c.1737G>C (p.Glu579Asp)
c.1644G>C (p.Glu548Asp)
9g.36219857C>TCA5056425CLTA,GNEc.1890G>A (p.Glu630=)
c.1620G>A (p.Glu540=)
c.1797G>A (p.Glu599=)
c.1575G>A (p.Glu525=)
c.485+15678C>T (n.485+15678C>T)
c.1467G>A (p.Glu489=)
c.1782G>A (p.Glu594=)
c.1737G>A (p.Glu579=)
c.1644G>A (p.Glu548=)
 dbSNP ExAC gnomAD v2
9g.36219858T>ACA373425506CLTA,GNEc.1889A>T (p.Glu630Val)
c.1619A>T (p.Glu540Val)
c.1796A>T (p.Glu599Val)
c.1574A>T (p.Glu525Val)
c.485+15679T>A (n.485+15679T>A)
c.1466A>T (p.Glu489Val)
c.1781A>T (p.Glu594Val)
c.1736A>T (p.Glu579Val)
c.1643A>T (p.Glu548Val)
 gnomAD v4
9g.36219858T>CCA373425507CLTA,GNEc.1889A>G (p.Glu630Gly)
c.1619A>G (p.Glu540Gly)
c.1796A>G (p.Glu599Gly)
c.1574A>G (p.Glu525Gly)
c.485+15679T>C (n.485+15679T>C)
c.1466A>G (p.Glu489Gly)
c.1781A>G (p.Glu594Gly)
c.1736A>G (p.Glu579Gly)
c.1643A>G (p.Glu548Gly)
9g.36219858T>GCA373425508CLTA,GNEc.1889A>C (p.Glu630Ala)
c.1619A>C (p.Glu540Ala)
c.1796A>C (p.Glu599Ala)
c.1574A>C (p.Glu525Ala)
c.485+15679T>G (n.485+15679T>G)
c.1466A>C (p.Glu489Ala)
c.1781A>C (p.Glu594Ala)
c.1736A>C (p.Glu579Ala)
c.1643A>C (p.Glu548Ala)
9g.36219859C>ACA5056426CLTA,GNEc.1888G>T (p.Glu630Ter)
c.1618G>T (p.Glu540Ter)
c.1795G>T (p.Glu599Ter)
c.1573G>T (p.Glu525Ter)
c.485+15680C>A (n.485+15680C>A)
c.1465G>T (p.Glu489Ter)
c.1780G>T (p.Glu594Ter)
c.1735G>T (p.Glu579Ter)
c.1642G>T (p.Glu548Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219859C=CA1846328422CLTA,GNEc.1888G= (p.Glu630=)
c.1618G= (p.Glu540=)
c.1795G= (p.Glu599=)
c.1573G= (p.Glu525=)
c.485+15680C= (n.485+15680C=)
c.1465G= (p.Glu489=)
c.1780G= (p.Glu594=)
c.1735G= (p.Glu579=)
c.1642G= (p.Glu548=)
9g.36219859C>GCA373425509CLTA,GNEc.1888G>C (p.Glu630Gln)
c.1618G>C (p.Glu540Gln)
c.1795G>C (p.Glu599Gln)
c.1573G>C (p.Glu525Gln)
c.485+15680C>G (n.485+15680C>G)
c.1465G>C (p.Glu489Gln)
c.1780G>C (p.Glu594Gln)
c.1735G>C (p.Glu579Gln)
c.1642G>C (p.Glu548Gln)
9g.36219859C>TCA373425510CLTA,GNEc.1888G>A (p.Glu630Lys)
c.1618G>A (p.Glu540Lys)
c.1795G>A (p.Glu599Lys)
c.1573G>A (p.Glu525Lys)
c.485+15680C>T (n.485+15680C>T)
c.1465G>A (p.Glu489Lys)
c.1780G>A (p.Glu594Lys)
c.1735G>A (p.Glu579Lys)
c.1642G>A (p.Glu548Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.36219860C>ACA373425511CLTA,GNEc.1887G>T (p.Arg629Ser)
c.1617G>T (p.Arg539Ser)
c.1794G>T (p.Arg598Ser)
c.1572G>T (p.Arg524Ser)
c.485+15681C>A (n.485+15681C>A)
c.1464G>T (p.Arg488Ser)
c.1779G>T (p.Arg593Ser)
c.1734G>T (p.Arg578Ser)
c.1641G>T (p.Arg547Ser)
9g.36219860C=CA1846328427CLTA,GNEc.1887G= (p.Arg629=)
c.1617G= (p.Arg539=)
c.1794G= (p.Arg598=)
c.1572G= (p.Arg524=)
c.485+15681C= (n.485+15681C=)
c.1464G= (p.Arg488=)
c.1779G= (p.Arg593=)
c.1734G= (p.Arg578=)
c.1641G= (p.Arg547=)
9g.36219860C>GCA373425512CLTA,GNEc.1887G>C (p.Arg629Ser)
c.1617G>C (p.Arg539Ser)
c.1794G>C (p.Arg598Ser)
c.1572G>C (p.Arg524Ser)
c.485+15681C>G (n.485+15681C>G)
c.1464G>C (p.Arg488Ser)
c.1779G>C (p.Arg593Ser)
c.1734G>C (p.Arg578Ser)
c.1641G>C (p.Arg547Ser)
9g.36219860C>TCA464494938CLTA,GNEc.1887G>A (p.Arg629=)
c.1617G>A (p.Arg539=)
c.1794G>A (p.Arg598=)
c.1572G>A (p.Arg524=)
c.485+15681C>T (n.485+15681C>T)
c.1464G>A (p.Arg488=)
c.1779G>A (p.Arg593=)
c.1734G>A (p.Arg578=)
c.1641G>A (p.Arg547=)
 ClinVar
9g.36219860_36219861insATGGCA1123242785CLTA,GNEc.1886_1887insCCAT (p.Arg629SerfsTer9)
c.1616_1617insCCAT (p.Arg539SerfsTer9)
c.1793_1794insCCAT (p.Arg598SerfsTer9)
c.1571_1572insCCAT (p.Arg524SerfsTer9)
c.485+15681_485+15682insATGG (n.485+15681_485+15682insATGG)
c.1463_1464insCCAT (p.Arg488SerfsTer9)
c.1778_1779insCCAT (p.Arg593SerfsTer9)
c.1733_1734insCCAT (p.Arg578SerfsTer9)
c.1640_1641insCCAT (p.Arg547SerfsTer9)
 dbSNP gnomAD v3 gnomAD v4
9g.36219860_36219861insATGGCTTCA1846328440CLTA,GNEc.1886_1887insAAGCCAT (p.Glu630SerfsTer9)
c.1616_1617insAAGCCAT (p.Glu540SerfsTer9)
c.1793_1794insAAGCCAT (p.Glu599SerfsTer9)
c.1571_1572insAAGCCAT (p.Glu525SerfsTer9)
c.485+15681_485+15682insATGGCTT (n.485+15681_485+15682insATGGCTT)
c.1463_1464insAAGCCAT (p.Glu489SerfsTer9)
c.1778_1779insAAGCCAT (p.Glu594SerfsTer9)
c.1733_1734insAAGCCAT (p.Glu579SerfsTer9)
c.1640_1641insAAGCCAT (p.Glu548SerfsTer9)
 dbSNP
9g.36219861C>ACA373425513CLTA,GNEc.1886G>T (p.Arg629Met)
c.1616G>T (p.Arg539Met)
c.1793G>T (p.Arg598Met)
c.1571G>T (p.Arg524Met)
c.485+15682C>A (n.485+15682C>A)
c.1463G>T (p.Arg488Met)
c.1778G>T (p.Arg593Met)
c.1733G>T (p.Arg578Met)
c.1640G>T (p.Arg547Met)
9g.36219861C=CA1846328442CLTA,GNEc.1886G= (p.Arg629=)
c.1616G= (p.Arg539=)
c.1793G= (p.Arg598=)
c.1571G= (p.Arg524=)
c.485+15682C= (n.485+15682C=)
c.1463G= (p.Arg488=)
c.1778G= (p.Arg593=)
c.1733G= (p.Arg578=)
c.1640G= (p.Arg547=)
9g.36219861C>GCA373425514CLTA,GNEc.1886G>C (p.Arg629Thr)
c.1616G>C (p.Arg539Thr)
c.1793G>C (p.Arg598Thr)
c.1571G>C (p.Arg524Thr)
c.485+15682C>G (n.485+15682C>G)
c.1463G>C (p.Arg488Thr)
c.1778G>C (p.Arg593Thr)
c.1733G>C (p.Arg578Thr)
c.1640G>C (p.Arg547Thr)
9g.36219861C>TCA373425515CLTA,GNEc.1886G>A (p.Arg629Lys)
c.1616G>A (p.Arg539Lys)
c.1793G>A (p.Arg598Lys)
c.1571G>A (p.Arg524Lys)
c.485+15682C>T (n.485+15682C>T)
c.1463G>A (p.Arg488Lys)
c.1778G>A (p.Arg593Lys)
c.1733G>A (p.Arg578Lys)
c.1640G>A (p.Arg547Lys)
 dbSNP
9g.36219863_36219864dupCA587786760CLTA,GNEc.1885_1886dup (p.Glu630GlyfsTer?)
c.1615_1616dup (p.Glu540GlyfsTer?)
c.1792_1793dup (p.Glu599GlyfsTer?)
c.1570_1571dup (p.Glu525GlyfsTer?)
c.485+15684_485+15685dup (n.485+15684_485+15685dup)
c.1462_1463dup (p.Glu489GlyfsTer?)
c.1777_1778dup (p.Glu594GlyfsTer?)
c.1732_1733dup (p.Glu579GlyfsTer?)
c.1639_1640dup (p.Glu548GlyfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219862T>ACA373425516CLTA,GNEc.1885A>T (p.Arg629Trp)
c.1615A>T (p.Arg539Trp)
c.1792A>T (p.Arg598Trp)
c.1570A>T (p.Arg524Trp)
c.485+15683T>A (n.485+15683T>A)
c.1462A>T (p.Arg488Trp)
c.1777A>T (p.Arg593Trp)
c.1732A>T (p.Arg578Trp)
c.1639A>T (p.Arg547Trp)
9g.36219862T>CCA373425517CLTA,GNEc.1885A>G (p.Arg629Gly)
c.1615A>G (p.Arg539Gly)
c.1792A>G (p.Arg598Gly)
c.1570A>G (p.Arg524Gly)
c.485+15683T>C (n.485+15683T>C)
c.1462A>G (p.Arg488Gly)
c.1777A>G (p.Arg593Gly)
c.1732A>G (p.Arg578Gly)
c.1639A>G (p.Arg547Gly)
9g.36219862T>GCA464494939CLTA,GNEc.1885A>C (p.Arg629=)
c.1615A>C (p.Arg539=)
c.1792A>C (p.Arg598=)
c.1570A>C (p.Arg524=)
c.485+15683T>G (n.485+15683T>G)
c.1462A>C (p.Arg488=)
c.1777A>C (p.Arg593=)
c.1732A>C (p.Arg578=)
c.1639A>C (p.Arg547=)
9g.36219862_36219863insTTTCA1123242787CLTA,GNEc.1885_1886insAAA (p.Gln628_Arg629insLys)
c.1615_1616insAAA (p.Gln538_Arg539insLys)
c.1792_1793insAAA (p.Gln597_Arg598insLys)
c.1570_1571insAAA (p.Gln523_Arg524insLys)
c.485+15683_485+15684insTTT (n.485+15683_485+15684insTTT)
c.1462_1463insAAA (p.Gln487_Arg488insLys)
c.1777_1778insAAA (p.Gln592_Arg593insLys)
c.1732_1733insAAA (p.Gln577_Arg578insLys)
c.1639_1640insAAA (p.Gln546_Arg547insLys)
 dbSNP gnomAD v3 gnomAD v4
9g.36219863C>ACA373425519CLTA,GNEc.1884G>T (p.Gln628His)
c.1614G>T (p.Gln538His)
c.1791G>T (p.Gln597His)
c.1569G>T (p.Gln523His)
c.485+15684C>A (n.485+15684C>A)
c.1461G>T (p.Gln487His)
c.1776G>T (p.Gln592His)
c.1731G>T (p.Gln577His)
c.1638G>T (p.Gln546His)
9g.36219863C=CA1846328457CLTA,GNEc.1884G= (p.Gln628=)
c.1614G= (p.Gln538=)
c.1791G= (p.Gln597=)
c.1569G= (p.Gln523=)
c.485+15684C= (n.485+15684C=)
c.1461G= (p.Gln487=)
c.1776G= (p.Gln592=)
c.1731G= (p.Gln577=)
c.1638G= (p.Gln546=)
9g.36219863C>GCA373425518CLTA,GNEc.1884G>C (p.Gln628His)
c.1614G>C (p.Gln538His)
c.1791G>C (p.Gln597His)
c.1569G>C (p.Gln523His)
c.485+15684C>G (n.485+15684C>G)
c.1461G>C (p.Gln487His)
c.1776G>C (p.Gln592His)
c.1731G>C (p.Gln577His)
c.1638G>C (p.Gln546His)
9g.36219863C>TCA464494940CLTA,GNEc.1884G>A (p.Gln628=)
c.1614G>A (p.Gln538=)
c.1791G>A (p.Gln597=)
c.1569G>A (p.Gln523=)
c.485+15684C>T (n.485+15684C>T)
c.1461G>A (p.Gln487=)
c.1776G>A (p.Gln592=)
c.1731G>A (p.Gln577=)
c.1638G>A (p.Gln546=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36219864T>ACA373425520CLTA,GNEc.1883A>T (p.Gln628Leu)
c.1613A>T (p.Gln538Leu)
c.1790A>T (p.Gln597Leu)
c.1568A>T (p.Gln523Leu)
c.485+15685T>A (n.485+15685T>A)
c.1460A>T (p.Gln487Leu)
c.1775A>T (p.Gln592Leu)
c.1730A>T (p.Gln577Leu)
c.1637A>T (p.Gln546Leu)
9g.36219864T>CCA373425521CLTA,GNEc.1883A>G (p.Gln628Arg)
c.1613A>G (p.Gln538Arg)
c.1790A>G (p.Gln597Arg)
c.1568A>G (p.Gln523Arg)
c.485+15685T>C (n.485+15685T>C)
c.1460A>G (p.Gln487Arg)
c.1775A>G (p.Gln592Arg)
c.1730A>G (p.Gln577Arg)
c.1637A>G (p.Gln546Arg)
9g.36219864T>GCA373425522CLTA,GNEc.1883A>C (p.Gln628Pro)
c.1613A>C (p.Gln538Pro)
c.1790A>C (p.Gln597Pro)
c.1568A>C (p.Gln523Pro)
c.485+15685T>G (n.485+15685T>G)
c.1460A>C (p.Gln487Pro)
c.1775A>C (p.Gln592Pro)
c.1730A>C (p.Gln577Pro)
c.1637A>C (p.Gln546Pro)
9g.36219865G>ACA373425523CLTA,GNEc.1882C>T (p.Gln628Ter)
c.1612C>T (p.Gln538Ter)
c.1789C>T (p.Gln597Ter)
c.1567C>T (p.Gln523Ter)
c.485+15686G>A (n.485+15686G>A)
c.1459C>T (p.Gln487Ter)
c.1774C>T (p.Gln592Ter)
c.1729C>T (p.Gln577Ter)
c.1636C>T (p.Gln546Ter)
 ClinVar dbSNP
9g.36219865G>CCA373425524CLTA,GNEc.1882C>G (p.Gln628Glu)
c.1612C>G (p.Gln538Glu)
c.1789C>G (p.Gln597Glu)
c.1567C>G (p.Gln523Glu)
c.485+15686G>C (n.485+15686G>C)
c.1459C>G (p.Gln487Glu)
c.1774C>G (p.Gln592Glu)
c.1729C>G (p.Gln577Glu)
c.1636C>G (p.Gln546Glu)
9g.36219865G>TCA373425525CLTA,GNEc.1882C>A (p.Gln628Lys)
c.1612C>A (p.Gln538Lys)
c.1789C>A (p.Gln597Lys)
c.1567C>A (p.Gln523Lys)
c.485+15686G>T (n.485+15686G>T)
c.1459C>A (p.Gln487Lys)
c.1774C>A (p.Gln592Lys)
c.1729C>A (p.Gln577Lys)
c.1636C>A (p.Gln546Lys)
9g.36219866C>ACA373425526CLTA,GNEc.1881G>T (p.Leu627Phe)
c.1611G>T (p.Leu537Phe)
c.1788G>T (p.Leu596Phe)
c.1566G>T (p.Leu522Phe)
c.485+15687C>A (n.485+15687C>A)
c.1458G>T (p.Leu486Phe)
c.1773G>T (p.Leu591Phe)
c.1728G>T (p.Leu576Phe)
c.1635G>T (p.Leu545Phe)
9g.36219866C=CA1846328462CLTA,GNEc.1881G= (p.Leu627=)
c.1611G= (p.Leu537=)
c.1788G= (p.Leu596=)
c.1566G= (p.Leu522=)
c.485+15687C= (n.485+15687C=)
c.1458G= (p.Leu486=)
c.1773G= (p.Leu591=)
c.1728G= (p.Leu576=)
c.1635G= (p.Leu545=)
9g.36219866C>GCA373425527CLTA,GNEc.1881G>C (p.Leu627Phe)
c.1611G>C (p.Leu537Phe)
c.1788G>C (p.Leu596Phe)
c.1566G>C (p.Leu522Phe)
c.485+15687C>G (n.485+15687C>G)
c.1458G>C (p.Leu486Phe)
c.1773G>C (p.Leu591Phe)
c.1728G>C (p.Leu576Phe)
c.1635G>C (p.Leu545Phe)
9g.36219866C>TCA464494941CLTA,GNEc.1881G>A (p.Leu627=)
c.1611G>A (p.Leu537=)
c.1788G>A (p.Leu596=)
c.1566G>A (p.Leu522=)
c.485+15687C>T (n.485+15687C>T)
c.1458G>A (p.Leu486=)
c.1773G>A (p.Leu591=)
c.1728G>A (p.Leu576=)
c.1635G>A (p.Leu545=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36219867A=CA1846328468CLTA,GNEc.1880T= (p.Leu627=)
c.1610T= (p.Leu537=)
c.1787T= (p.Leu596=)
c.1565T= (p.Leu522=)
c.485+15688A= (n.485+15688A=)
c.1457T= (p.Leu486=)
c.1772T= (p.Leu591=)
c.1727T= (p.Leu576=)
c.1634T= (p.Leu545=)
9g.36219867A>CCA373425528CLTA,GNEc.1880T>G (p.Leu627Trp)
c.1610T>G (p.Leu537Trp)
c.1787T>G (p.Leu596Trp)
c.1565T>G (p.Leu522Trp)
c.485+15688A>C (n.485+15688A>C)
c.1457T>G (p.Leu486Trp)
c.1772T>G (p.Leu591Trp)
c.1727T>G (p.Leu576Trp)
c.1634T>G (p.Leu545Trp)
9g.36219867A>GCA192841314CLTA,GNEc.1880T>C (p.Leu627Ser)
c.1610T>C (p.Leu537Ser)
c.1787T>C (p.Leu596Ser)
c.1565T>C (p.Leu522Ser)
c.485+15688A>G (n.485+15688A>G)
c.1457T>C (p.Leu486Ser)
c.1772T>C (p.Leu591Ser)
c.1727T>C (p.Leu576Ser)
c.1634T>C (p.Leu545Ser)
 dbSNP
9g.36219867A>TCA373425529CLTA,GNEc.1880T>A (p.Leu627Ter)
c.1610T>A (p.Leu537Ter)
c.1787T>A (p.Leu596Ter)
c.1565T>A (p.Leu522Ter)
c.485+15688A>T (n.485+15688A>T)
c.1457T>A (p.Leu486Ter)
c.1772T>A (p.Leu591Ter)
c.1727T>A (p.Leu576Ter)
c.1634T>A (p.Leu545Ter)
 ClinVar
9g.36219867_36219879delinsAAGGCCATTCCAGCA1846328470CLTA,GNEc.1868_1880delinsCTGGAATGGCCTT (p.Ser623=)
c.1598_1610delinsCTGGAATGGCCTT (p.Ser533=)
c.1775_1787delinsCTGGAATGGCCTT (p.Ser592=)
c.1553_1565delinsCTGGAATGGCCTT (p.Ser518=)
c.485+15688_485+15700delinsAAGGCCATTCCAG (n.485+15688_485+15700delinsAAGGCCATTCCAG)
c.1445_1457delinsCTGGAATGGCCTT (p.Ser482=)
c.1760_1772delinsCTGGAATGGCCTT (p.Ser587=)
c.1715_1727delinsCTGGAATGGCCTT (p.Ser572=)
c.1622_1634delinsCTGGAATGGCCTT (p.Ser541=)
9g.36219868A>CCA373425530CLTA,GNEc.1879T>G (p.Leu627Val)
c.1609T>G (p.Leu537Val)
c.1786T>G (p.Leu596Val)
c.1564T>G (p.Leu522Val)
c.485+15689A>C (n.485+15689A>C)
c.1456T>G (p.Leu486Val)
c.1771T>G (p.Leu591Val)
c.1726T>G (p.Leu576Val)
c.1633T>G (p.Leu545Val)
9g.36219868A>GCA464494942CLTA,GNEc.1879T>C (p.Leu627=)
c.1609T>C (p.Leu537=)
c.1786T>C (p.Leu596=)
c.1564T>C (p.Leu522=)
c.485+15689A>G (n.485+15689A>G)
c.1456T>C (p.Leu486=)
c.1771T>C (p.Leu591=)
c.1726T>C (p.Leu576=)
c.1633T>C (p.Leu545=)
 gnomAD v4
9g.36219868A>TCA373425531CLTA,GNEc.1879T>A (p.Leu627Met)
c.1609T>A (p.Leu537Met)
c.1786T>A (p.Leu596Met)
c.1564T>A (p.Leu522Met)
c.485+15689A>T (n.485+15689A>T)
c.1456T>A (p.Leu486Met)
c.1771T>A (p.Leu591Met)
c.1726T>A (p.Leu576Met)
c.1633T>A (p.Leu545Met)
9g.36219872_36219883delCA1139660951CLTA,GNEc.1868_1879del (p.Ser623_Ala626del)
c.1598_1609del (p.Ser533_Ala536del)
c.1775_1786del (p.Ser592_Ala595del)
c.1553_1564del (p.Ser518_Ala521del)
c.485+15693_485+15704del (n.485+15693_485+15704del)
c.1445_1456del (p.Ser482_Ala485del)
c.1760_1771del (p.Ser587_Ala590del)
c.1715_1726del (p.Ser572_Ala575del)
c.1622_1633del (p.Ser541_Ala544del)
 ClinVar dbSNP
9g.36219869G>ACA464494943CLTA,GNEc.1878C>T (p.Ala626=)
c.1608C>T (p.Ala536=)
c.1785C>T (p.Ala595=)
c.1563C>T (p.Ala521=)
c.485+15690G>A (n.485+15690G>A)
c.1455C>T (p.Ala485=)
c.1770C>T (p.Ala590=)
c.1725C>T (p.Ala575=)
c.1632C>T (p.Ala544=)
9g.36219869G>CCA464494944CLTA,GNEc.1878C>G (p.Ala626=)
c.1608C>G (p.Ala536=)
c.1785C>G (p.Ala595=)
c.1563C>G (p.Ala521=)
c.485+15690G>C (n.485+15690G>C)
c.1455C>G (p.Ala485=)
c.1770C>G (p.Ala590=)
c.1725C>G (p.Ala575=)
c.1632C>G (p.Ala544=)
9g.36219869G=CA1846328481CLTA,GNEc.1878C= (p.Ala626=)
c.1608C= (p.Ala536=)
c.1785C= (p.Ala595=)
c.1563C= (p.Ala521=)
c.485+15690G= (n.485+15690G=)
c.1455C= (p.Ala485=)
c.1770C= (p.Ala590=)
c.1725C= (p.Ala575=)
c.1632C= (p.Ala544=)
9g.36219869G>TCA5056427CLTA,GNEc.1878C>A (p.Ala626=)
c.1608C>A (p.Ala536=)
c.1785C>A (p.Ala595=)
c.1563C>A (p.Ala521=)
c.485+15690G>T (n.485+15690G>T)
c.1455C>A (p.Ala485=)
c.1770C>A (p.Ala590=)
c.1725C>A (p.Ala575=)
c.1632C>A (p.Ala544=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219870G>ACA373425533CLTA,GNEc.1877C>T (p.Ala626Val)
c.1607C>T (p.Ala536Val)
c.1784C>T (p.Ala595Val)
c.1562C>T (p.Ala521Val)
c.485+15691G>A (n.485+15691G>A)
c.1454C>T (p.Ala485Val)
c.1769C>T (p.Ala590Val)
c.1724C>T (p.Ala575Val)
c.1631C>T (p.Ala544Val)
9g.36219870G>CCA373425534CLTA,GNEc.1877C>G (p.Ala626Gly)
c.1607C>G (p.Ala536Gly)
c.1784C>G (p.Ala595Gly)
c.1562C>G (p.Ala521Gly)
c.485+15691G>C (n.485+15691G>C)
c.1454C>G (p.Ala485Gly)
c.1769C>G (p.Ala590Gly)
c.1724C>G (p.Ala575Gly)
c.1631C>G (p.Ala544Gly)
9g.36219870G>TCA373425532CLTA,GNEc.1877C>A (p.Ala626Asp)
c.1607C>A (p.Ala536Asp)
c.1784C>A (p.Ala595Asp)
c.1562C>A (p.Ala521Asp)
c.485+15691G>T (n.485+15691G>T)
c.1454C>A (p.Ala485Asp)
c.1769C>A (p.Ala590Asp)
c.1724C>A (p.Ala575Asp)
c.1631C>A (p.Ala544Asp)
9g.36219871C>ACA373425536CLTA,GNEc.1876G>T (p.Ala626Ser)
c.1606G>T (p.Ala536Ser)
c.1783G>T (p.Ala595Ser)
c.1561G>T (p.Ala521Ser)
c.485+15692C>A (n.485+15692C>A)
c.1453G>T (p.Ala485Ser)
c.1768G>T (p.Ala590Ser)
c.1723G>T (p.Ala575Ser)
c.1630G>T (p.Ala544Ser)
9g.36219871C=CA1846328483CLTA,GNEc.1876G= (p.Ala626=)
c.1606G= (p.Ala536=)
c.1783G= (p.Ala595=)
c.1561G= (p.Ala521=)
c.485+15692C= (n.485+15692C=)
c.1453G= (p.Ala485=)
c.1768G= (p.Ala590=)
c.1723G= (p.Ala575=)
c.1630G= (p.Ala544=)
9g.36219871C>GCA373425535CLTA,GNEc.1876G>C (p.Ala626Pro)
c.1606G>C (p.Ala536Pro)
c.1783G>C (p.Ala595Pro)
c.1561G>C (p.Ala521Pro)
c.485+15692C>G (n.485+15692C>G)
c.1453G>C (p.Ala485Pro)
c.1768G>C (p.Ala590Pro)
c.1723G>C (p.Ala575Pro)
c.1630G>C (p.Ala544Pro)
9g.36219871C>TCA373425537CLTA,GNEc.1876G>A (p.Ala626Thr)
c.1606G>A (p.Ala536Thr)
c.1783G>A (p.Ala595Thr)
c.1561G>A (p.Ala521Thr)
c.485+15692C>T (n.485+15692C>T)
c.1453G>A (p.Ala485Thr)
c.1768G>A (p.Ala590Thr)
c.1723G>A (p.Ala575Thr)
c.1630G>A (p.Ala544Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.36219872C>ACA373425538CLTA,GNEc.1875G>T (p.Met625Ile)
c.1605G>T (p.Met535Ile)
c.1782G>T (p.Met594Ile)
c.1560G>T (p.Met520Ile)
c.485+15693C>A (n.485+15693C>A)
c.1452G>T (p.Met484Ile)
c.1767G>T (p.Met589Ile)
c.1722G>T (p.Met574Ile)
c.1629G>T (p.Met543Ile)
9g.36219872C>GCA373425539CLTA,GNEc.1875G>C (p.Met625Ile)
c.1605G>C (p.Met535Ile)
c.1782G>C (p.Met594Ile)
c.1560G>C (p.Met520Ile)
c.485+15693C>G (n.485+15693C>G)
c.1452G>C (p.Met484Ile)
c.1767G>C (p.Met589Ile)
c.1722G>C (p.Met574Ile)
c.1629G>C (p.Met543Ile)
9g.36219872C>TCA373425540CLTA,GNEc.1875G>A (p.Met625Ile)
c.1605G>A (p.Met535Ile)
c.1782G>A (p.Met594Ile)
c.1560G>A (p.Met520Ile)
c.485+15693C>T (n.485+15693C>T)
c.1452G>A (p.Met484Ile)
c.1767G>A (p.Met589Ile)
c.1722G>A (p.Met574Ile)
c.1629G>A (p.Met543Ile)
9g.36219872_36219873delinsCACA1846328489CLTA,GNEc.1874_1875delinsTG (p.Met625=)
c.1604_1605delinsTG (p.Met535=)
c.1781_1782delinsTG (p.Met594=)
c.1559_1560delinsTG (p.Met520=)
c.485+15693_485+15694delinsCA (n.485+15693_485+15694delinsCA)
c.1451_1452delinsTG (p.Met484=)
c.1766_1767delinsTG (p.Met589=)
c.1721_1722delinsTG (p.Met574=)
c.1628_1629delinsTG (p.Met543=)
9g.36219873delCA16041309CLTA,GNEc.1874del (p.Met625ArgfsTer?)
c.1604del (p.Met535ArgfsTer?)
c.1781del (p.Met594ArgfsTer?)
c.1559del (p.Met520ArgfsTer?)
c.485+15694del (n.485+15694del)
c.1451del (p.Met484ArgfsTer?)
c.1766del (p.Met589ArgfsTer?)
c.1721del (p.Met574ArgfsTer?)
c.1628del (p.Met543ArgfsTer?)
 ClinVar dbSNP
9g.36219873A=CA1846328501CLTA,GNEc.1874T= (p.Met625=)
c.1604T= (p.Met535=)
c.1781T= (p.Met594=)
c.1559T= (p.Met520=)
c.485+15694A= (n.485+15694A=)
c.1451T= (p.Met484=)
c.1766T= (p.Met589=)
c.1721T= (p.Met574=)
c.1628T= (p.Met543=)
9g.36219873A>CCA373425541CLTA,GNEc.1874T>G (p.Met625Arg)
c.1604T>G (p.Met535Arg)
c.1781T>G (p.Met594Arg)
c.1559T>G (p.Met520Arg)
c.485+15694A>C (n.485+15694A>C)
c.1451T>G (p.Met484Arg)
c.1766T>G (p.Met589Arg)
c.1721T>G (p.Met574Arg)
c.1628T>G (p.Met543Arg)
9g.36219873A>GCA373425542CLTA,GNEc.1874T>C (p.Met625Thr)
c.1604T>C (p.Met535Thr)
c.1781T>C (p.Met594Thr)
c.1559T>C (p.Met520Thr)
c.485+15694A>G (n.485+15694A>G)
c.1451T>C (p.Met484Thr)
c.1766T>C (p.Met589Thr)
c.1721T>C (p.Met574Thr)
c.1628T>C (p.Met543Thr)
 dbSNP gnomAD v2
9g.36219873A>TCA373425543CLTA,GNEc.1874T>A (p.Met625Lys)
c.1604T>A (p.Met535Lys)
c.1781T>A (p.Met594Lys)
c.1559T>A (p.Met520Lys)
c.485+15694A>T (n.485+15694A>T)
c.1451T>A (p.Met484Lys)
c.1766T>A (p.Met589Lys)
c.1721T>A (p.Met574Lys)
c.1628T>A (p.Met543Lys)
9g.36219874T>ACA373425544CLTA,GNEc.1873A>T (p.Met625Leu)
c.1603A>T (p.Met535Leu)
c.1780A>T (p.Met594Leu)
c.1558A>T (p.Met520Leu)
c.485+15695T>A (n.485+15695T>A)
c.1450A>T (p.Met484Leu)
c.1765A>T (p.Met589Leu)
c.1720A>T (p.Met574Leu)
c.1627A>T (p.Met543Leu)
9g.36219874T>CCA373425545CLTA,GNEc.1873A>G (p.Met625Val)
c.1603A>G (p.Met535Val)
c.1780A>G (p.Met594Val)
c.1558A>G (p.Met520Val)
c.485+15695T>C (n.485+15695T>C)
c.1450A>G (p.Met484Val)
c.1765A>G (p.Met589Val)
c.1720A>G (p.Met574Val)
c.1627A>G (p.Met543Val)
9g.36219874T>GCA373425546CLTA,GNEc.1873A>C (p.Met625Leu)
c.1603A>C (p.Met535Leu)
c.1780A>C (p.Met594Leu)
c.1558A>C (p.Met520Leu)
c.485+15695T>G (n.485+15695T>G)
c.1450A>C (p.Met484Leu)
c.1765A>C (p.Met589Leu)
c.1720A>C (p.Met574Leu)
c.1627A>C (p.Met543Leu)
9g.36219875T>ACA464494945CLTA,GNEc.1872A>T (p.Gly624=)
c.1602A>T (p.Gly534=)
c.1779A>T (p.Gly593=)
c.1557A>T (p.Gly519=)
c.485+15696T>A (n.485+15696T>A)
c.1449A>T (p.Gly483=)
c.1764A>T (p.Gly588=)
c.1719A>T (p.Gly573=)
c.1626A>T (p.Gly542=)
9g.36219875T>CCA5056428CLTA,GNEc.1872A>G (p.Gly624=)
c.1602A>G (p.Gly534=)
c.1779A>G (p.Gly593=)
c.1557A>G (p.Gly519=)
c.485+15696T>C (n.485+15696T>C)
c.1449A>G (p.Gly483=)
c.1764A>G (p.Gly588=)
c.1719A>G (p.Gly573=)
c.1626A>G (p.Gly542=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219875T>GCA464494946CLTA,GNEc.1872A>C (p.Gly624=)
c.1602A>C (p.Gly534=)
c.1779A>C (p.Gly593=)
c.1557A>C (p.Gly519=)
c.485+15696T>G (n.485+15696T>G)
c.1449A>C (p.Gly483=)
c.1764A>C (p.Gly588=)
c.1719A>C (p.Gly573=)
c.1626A>C (p.Gly542=)
9g.36219875T=CA1846328510CLTA,GNEc.1872A= (p.Gly624=)
c.1602A= (p.Gly534=)
c.1779A= (p.Gly593=)
c.1557A= (p.Gly519=)
c.485+15696T= (n.485+15696T=)
c.1449A= (p.Gly483=)
c.1764A= (p.Gly588=)
c.1719A= (p.Gly573=)
c.1626A= (p.Gly542=)
9g.36219876C>ACA373425549CLTA,GNEc.1871G>T (p.Gly624Val)
c.1601G>T (p.Gly534Val)
c.1778G>T (p.Gly593Val)
c.1556G>T (p.Gly519Val)
c.485+15697C>A (n.485+15697C>A)
c.1448G>T (p.Gly483Val)
c.1763G>T (p.Gly588Val)
c.1718G>T (p.Gly573Val)
c.1625G>T (p.Gly542Val)
9g.36219876C>GCA373425548CLTA,GNEc.1871G>C (p.Gly624Ala)
c.1601G>C (p.Gly534Ala)
c.1778G>C (p.Gly593Ala)
c.1556G>C (p.Gly519Ala)
c.485+15697C>G (n.485+15697C>G)
c.1448G>C (p.Gly483Ala)
c.1763G>C (p.Gly588Ala)
c.1718G>C (p.Gly573Ala)
c.1625G>C (p.Gly542Ala)
9g.36219876C>TCA373425547CLTA,GNEc.1871G>A (p.Gly624Glu)
c.1601G>A (p.Gly534Glu)
c.1778G>A (p.Gly593Glu)
c.1556G>A (p.Gly519Glu)
c.485+15697C>T (n.485+15697C>T)
c.1448G>A (p.Gly483Glu)
c.1763G>A (p.Gly588Glu)
c.1718G>A (p.Gly573Glu)
c.1625G>A (p.Gly542Glu)
9g.36219877C>ACA373425550CLTA,GNEc.1870G>T (p.Gly624Ter)
c.1600G>T (p.Gly534Ter)
c.1777G>T (p.Gly593Ter)
c.1555G>T (p.Gly519Ter)
c.485+15698C>A (n.485+15698C>A)
c.1447G>T (p.Gly483Ter)
c.1762G>T (p.Gly588Ter)
c.1717G>T (p.Gly573Ter)
c.1624G>T (p.Gly542Ter)
9g.36219877C>GCA373425551CLTA,GNEc.1870G>C (p.Gly624Arg)
c.1600G>C (p.Gly534Arg)
c.1777G>C (p.Gly593Arg)
c.1555G>C (p.Gly519Arg)
c.485+15698C>G (n.485+15698C>G)
c.1447G>C (p.Gly483Arg)
c.1762G>C (p.Gly588Arg)
c.1717G>C (p.Gly573Arg)
c.1624G>C (p.Gly542Arg)
9g.36219877C>TCA373425552CLTA,GNEc.1870G>A (p.Gly624Arg)
c.1600G>A (p.Gly534Arg)
c.1777G>A (p.Gly593Arg)
c.1555G>A (p.Gly519Arg)
c.485+15698C>T (n.485+15698C>T)
c.1447G>A (p.Gly483Arg)
c.1762G>A (p.Gly588Arg)
c.1717G>A (p.Gly573Arg)
c.1624G>A (p.Gly542Arg)
9g.36219878A>CCA464494947CLTA,GNEc.1869T>G (p.Ser623=)
c.1599T>G (p.Ser533=)
c.1776T>G (p.Ser592=)
c.1554T>G (p.Ser518=)
c.485+15699A>C (n.485+15699A>C)
c.1446T>G (p.Ser482=)
c.1761T>G (p.Ser587=)
c.1716T>G (p.Ser572=)
c.1623T>G (p.Ser541=)
9g.36219878A>GCA464494948CLTA,GNEc.1869T>C (p.Ser623=)
c.1599T>C (p.Ser533=)
c.1776T>C (p.Ser592=)
c.1554T>C (p.Ser518=)
c.485+15699A>G (n.485+15699A>G)
c.1446T>C (p.Ser482=)
c.1761T>C (p.Ser587=)
c.1716T>C (p.Ser572=)
c.1623T>C (p.Ser541=)
9g.36219878A>TCA464494949CLTA,GNEc.1869T>A (p.Ser623=)
c.1599T>A (p.Ser533=)
c.1776T>A (p.Ser592=)
c.1554T>A (p.Ser518=)
c.485+15699A>T (n.485+15699A>T)
c.1446T>A (p.Ser482=)
c.1761T>A (p.Ser587=)
c.1716T>A (p.Ser572=)
c.1623T>A (p.Ser541=)
9g.36219879G>ACA373425553CLTA,GNEc.1868C>T (p.Ser623Phe)
c.1598C>T (p.Ser533Phe)
c.1775C>T (p.Ser592Phe)
c.1553C>T (p.Ser518Phe)
c.485+15700G>A (n.485+15700G>A)
c.1445C>T (p.Ser482Phe)
c.1760C>T (p.Ser587Phe)
c.1715C>T (p.Ser572Phe)
c.1622C>T (p.Ser541Phe)
9g.36219879G>CCA373425554CLTA,GNEc.1868C>G (p.Ser623Cys)
c.1598C>G (p.Ser533Cys)
c.1775C>G (p.Ser592Cys)
c.1553C>G (p.Ser518Cys)
c.485+15700G>C (n.485+15700G>C)
c.1445C>G (p.Ser482Cys)
c.1760C>G (p.Ser587Cys)
c.1715C>G (p.Ser572Cys)
c.1622C>G (p.Ser541Cys)
9g.36219879G>TCA373425555CLTA,GNEc.1868C>A (p.Ser623Tyr)
c.1598C>A (p.Ser533Tyr)
c.1775C>A (p.Ser592Tyr)
c.1553C>A (p.Ser518Tyr)
c.485+15700G>T (n.485+15700G>T)
c.1445C>A (p.Ser482Tyr)
c.1760C>A (p.Ser587Tyr)
c.1715C>A (p.Ser572Tyr)
c.1622C>A (p.Ser541Tyr)
 gnomAD v4
9g.36219880A>CCA373425556CLTA,GNEc.1867T>G (p.Ser623Ala)
c.1597T>G (p.Ser533Ala)
c.1774T>G (p.Ser592Ala)
c.1552T>G (p.Ser518Ala)
c.485+15701A>C (n.485+15701A>C)
c.1444T>G (p.Ser482Ala)
c.1759T>G (p.Ser587Ala)
c.1714T>G (p.Ser572Ala)
c.1621T>G (p.Ser541Ala)
9g.36219880A>GCA373425557CLTA,GNEc.1867T>C (p.Ser623Pro)
c.1597T>C (p.Ser533Pro)
c.1774T>C (p.Ser592Pro)
c.1552T>C (p.Ser518Pro)
c.485+15701A>G (n.485+15701A>G)
c.1444T>C (p.Ser482Pro)
c.1759T>C (p.Ser587Pro)
c.1714T>C (p.Ser572Pro)
c.1621T>C (p.Ser541Pro)
9g.36219880A>TCA373425558CLTA,GNEc.1867T>A (p.Ser623Thr)
c.1597T>A (p.Ser533Thr)
c.1774T>A (p.Ser592Thr)
c.1552T>A (p.Ser518Thr)
c.485+15701A>T (n.485+15701A>T)
c.1444T>A (p.Ser482Thr)
c.1759T>A (p.Ser587Thr)
c.1714T>A (p.Ser572Thr)
c.1621T>A (p.Ser541Thr)
 COSMIC COSMIC COSMIC
9g.36219881G>ACA464494950CLTA,GNEc.1866C>T (p.Ala622=)
c.1596C>T (p.Ala532=)
c.1773C>T (p.Ala591=)
c.1551C>T (p.Ala517=)
c.485+15702G>A (n.485+15702G>A)
c.1443C>T (p.Ala481=)
c.1758C>T (p.Ala586=)
c.1713C>T (p.Ala571=)
c.1620C>T (p.Ala540=)
 dbSNP gnomAD v4
9g.36219881G>CCA464494951CLTA,GNEc.1866C>G (p.Ala622=)
c.1596C>G (p.Ala532=)
c.1773C>G (p.Ala591=)
c.1551C>G (p.Ala517=)
c.485+15702G>C (n.485+15702G>C)
c.1443C>G (p.Ala481=)
c.1758C>G (p.Ala586=)
c.1713C>G (p.Ala571=)
c.1620C>G (p.Ala540=)
9g.36219881G=CA1846328516CLTA,GNEc.1866C= (p.Ala622=)
c.1596C= (p.Ala532=)
c.1773C= (p.Ala591=)
c.1551C= (p.Ala517=)
c.485+15702G= (n.485+15702G=)
c.1443C= (p.Ala481=)
c.1758C= (p.Ala586=)
c.1713C= (p.Ala571=)
c.1620C= (p.Ala540=)
9g.36219881G>TCA464494952CLTA,GNEc.1866C>A (p.Ala622=)
c.1596C>A (p.Ala532=)
c.1773C>A (p.Ala591=)
c.1551C>A (p.Ala517=)
c.485+15702G>T (n.485+15702G>T)
c.1443C>A (p.Ala481=)
c.1758C>A (p.Ala586=)
c.1713C>A (p.Ala571=)
c.1620C>A (p.Ala540=)
9g.36219882G>ACA373425559CLTA,GNEc.1865C>T (p.Ala622Val)
c.1595C>T (p.Ala532Val)
c.1772C>T (p.Ala591Val)
c.1550C>T (p.Ala517Val)
c.485+15703G>A (n.485+15703G>A)
c.1442C>T (p.Ala481Val)
c.1757C>T (p.Ala586Val)
c.1712C>T (p.Ala571Val)
c.1619C>T (p.Ala540Val)
 ClinVar
9g.36219882G>CCA373425560CLTA,GNEc.1865C>G (p.Ala622Gly)
c.1595C>G (p.Ala532Gly)
c.1772C>G (p.Ala591Gly)
c.1550C>G (p.Ala517Gly)
c.485+15703G>C (n.485+15703G>C)
c.1442C>G (p.Ala481Gly)
c.1757C>G (p.Ala586Gly)
c.1712C>G (p.Ala571Gly)
c.1619C>G (p.Ala540Gly)
9g.36219882G>TCA373425561CLTA,GNEc.1865C>A (p.Ala622Asp)
c.1595C>A (p.Ala532Asp)
c.1772C>A (p.Ala591Asp)
c.1550C>A (p.Ala517Asp)
c.485+15703G>T (n.485+15703G>T)
c.1442C>A (p.Ala481Asp)
c.1757C>A (p.Ala586Asp)
c.1712C>A (p.Ala571Asp)
c.1619C>A (p.Ala540Asp)
9g.36219883C>ACA373425563CLTA,GNEc.1864G>T (p.Ala622Ser)
c.1594G>T (p.Ala532Ser)
c.1771G>T (p.Ala591Ser)
c.1549G>T (p.Ala517Ser)
c.485+15704C>A (n.485+15704C>A)
c.1441G>T (p.Ala481Ser)
c.1756G>T (p.Ala586Ser)
c.1711G>T (p.Ala571Ser)
c.1618G>T (p.Ala540Ser)
9g.36219883C=CA1846328525CLTA,GNEc.1864G= (p.Ala622=)
c.1594G= (p.Ala532=)
c.1771G= (p.Ala591=)
c.1549G= (p.Ala517=)
c.485+15704C= (n.485+15704C=)
c.1441G= (p.Ala481=)
c.1756G= (p.Ala586=)
c.1711G= (p.Ala571=)
c.1618G= (p.Ala540=)
9g.36219883C>GCA373425562CLTA,GNEc.1864G>C (p.Ala622Pro)
c.1594G>C (p.Ala532Pro)
c.1771G>C (p.Ala591Pro)
c.1549G>C (p.Ala517Pro)
c.485+15704C>G (n.485+15704C>G)
c.1441G>C (p.Ala481Pro)
c.1756G>C (p.Ala586Pro)
c.1711G>C (p.Ala571Pro)
c.1618G>C (p.Ala540Pro)
9g.36219883C>TCA5056429CLTA,GNEc.1864G>A (p.Ala622Thr)
c.1594G>A (p.Ala532Thr)
c.1771G>A (p.Ala591Thr)
c.1549G>A (p.Ala517Thr)
c.485+15704C>T (n.485+15704C>T)
c.1441G>A (p.Ala481Thr)
c.1756G>A (p.Ala586Thr)
c.1711G>A (p.Ala571Thr)
c.1618G>A (p.Ala540Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36219884G>ACA148383CLTA,GNEc.1863C>T (p.Tyr621=)
c.1593C>T (p.Tyr531=)
c.1770C>T (p.Tyr590=)
c.1548C>T (p.Tyr516=)
c.485+15705G>A (n.485+15705G>A)
c.1440C>T (p.Tyr480=)
c.1755C>T (p.Tyr585=)
c.1710C>T (p.Tyr570=)
c.1617C>T (p.Tyr539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219884G>CCA373425564CLTA,GNEc.1863C>G (p.Tyr621Ter)
c.1593C>G (p.Tyr531Ter)
c.1770C>G (p.Tyr590Ter)
c.1548C>G (p.Tyr516Ter)
c.485+15705G>C (n.485+15705G>C)
c.1440C>G (p.Tyr480Ter)
c.1755C>G (p.Tyr585Ter)
c.1710C>G (p.Tyr570Ter)
c.1617C>G (p.Tyr539Ter)
9g.36219884G=CA1846328550CLTA,GNEc.1863C= (p.Tyr621=)
c.1593C= (p.Tyr531=)
c.1770C= (p.Tyr590=)
c.1548C= (p.Tyr516=)
c.485+15705G= (n.485+15705G=)
c.1440C= (p.Tyr480=)
c.1755C= (p.Tyr585=)
c.1710C= (p.Tyr570=)
c.1617C= (p.Tyr539=)
9g.36219884G>TCA373425565CLTA,GNEc.1863C>A (p.Tyr621Ter)
c.1593C>A (p.Tyr531Ter)
c.1770C>A (p.Tyr590Ter)
c.1548C>A (p.Tyr516Ter)
c.485+15705G>T (n.485+15705G>T)
c.1440C>A (p.Tyr480Ter)
c.1755C>A (p.Tyr585Ter)
c.1710C>A (p.Tyr570Ter)
c.1617C>A (p.Tyr539Ter)
 ClinVar dbSNP gnomAD v4
9g.36219885T>ACA373425566CLTA,GNEc.1862A>T (p.Tyr621Phe)
c.1592A>T (p.Tyr531Phe)
c.1769A>T (p.Tyr590Phe)
c.1547A>T (p.Tyr516Phe)
c.485+15706T>A (n.485+15706T>A)
c.1439A>T (p.Tyr480Phe)
c.1754A>T (p.Tyr585Phe)
c.1709A>T (p.Tyr570Phe)
c.1616A>T (p.Tyr539Phe)
9g.36219885T>CCA373425567CLTA,GNEc.1862A>G (p.Tyr621Cys)
c.1592A>G (p.Tyr531Cys)
c.1769A>G (p.Tyr590Cys)
c.1547A>G (p.Tyr516Cys)
c.485+15706T>C (n.485+15706T>C)
c.1439A>G (p.Tyr480Cys)
c.1754A>G (p.Tyr585Cys)
c.1709A>G (p.Tyr570Cys)
c.1616A>G (p.Tyr539Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36219885T>GCA373425568CLTA,GNEc.1862A>C (p.Tyr621Ser)
c.1592A>C (p.Tyr531Ser)
c.1769A>C (p.Tyr590Ser)
c.1547A>C (p.Tyr516Ser)
c.485+15706T>G (n.485+15706T>G)
c.1439A>C (p.Tyr480Ser)
c.1754A>C (p.Tyr585Ser)
c.1709A>C (p.Tyr570Ser)
c.1616A>C (p.Tyr539Ser)
9g.36219885T=CA1846328563CLTA,GNEc.1862A= (p.Tyr621=)
c.1592A= (p.Tyr531=)
c.1769A= (p.Tyr590=)
c.1547A= (p.Tyr516=)
c.485+15706T= (n.485+15706T=)
c.1439A= (p.Tyr480=)
c.1754A= (p.Tyr585=)
c.1709A= (p.Tyr570=)
c.1616A= (p.Tyr539=)
9g.36219886A>CCA373425569CLTA,GNEc.1861T>G (p.Tyr621Asp)
c.1591T>G (p.Tyr531Asp)
c.1768T>G (p.Tyr590Asp)
c.1546T>G (p.Tyr516Asp)
c.485+15707A>C (n.485+15707A>C)
c.1438T>G (p.Tyr480Asp)
c.1753T>G (p.Tyr585Asp)
c.1708T>G (p.Tyr570Asp)
c.1615T>G (p.Tyr539Asp)
 COSMIC COSMIC COSMIC
9g.36219886A>GCA373425570CLTA,GNEc.1861T>C (p.Tyr621His)
c.1591T>C (p.Tyr531His)
c.1768T>C (p.Tyr590His)
c.1546T>C (p.Tyr516His)
c.485+15707A>G (n.485+15707A>G)
c.1438T>C (p.Tyr480His)
c.1753T>C (p.Tyr585His)
c.1708T>C (p.Tyr570His)
c.1615T>C (p.Tyr539His)
 dbSNP
9g.36219886A>TCA373425571CLTA,GNEc.1861T>A (p.Tyr621Asn)
c.1591T>A (p.Tyr531Asn)
c.1768T>A (p.Tyr590Asn)
c.1546T>A (p.Tyr516Asn)
c.485+15707A>T (n.485+15707A>T)
c.1438T>A (p.Tyr480Asn)
c.1753T>A (p.Tyr585Asn)
c.1708T>A (p.Tyr570Asn)
c.1615T>A (p.Tyr539Asn)
 ClinVar
9g.36219887T>ACA464494954CLTA,GNEc.1860A>T (p.Ala620=)
c.1590A>T (p.Ala530=)
c.1767A>T (p.Ala589=)
c.1545A>T (p.Ala515=)
c.485+15708T>A (n.485+15708T>A)
c.1437A>T (p.Ala479=)
c.1752A>T (p.Ala584=)
c.1707A>T (p.Ala569=)
c.1614A>T (p.Ala538=)
 ClinVar
9g.36219887T>CCA5056430CLTA,GNEc.1860A>G (p.Ala620=)
c.1590A>G (p.Ala530=)
c.1767A>G (p.Ala589=)
c.1545A>G (p.Ala515=)
c.485+15708T>C (n.485+15708T>C)
c.1437A>G (p.Ala479=)
c.1752A>G (p.Ala584=)
c.1707A>G (p.Ala569=)
c.1614A>G (p.Ala538=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219887T>GCA464494953CLTA,GNEc.1860A>C (p.Ala620=)
c.1590A>C (p.Ala530=)
c.1767A>C (p.Ala589=)
c.1545A>C (p.Ala515=)
c.485+15708T>G (n.485+15708T>G)
c.1437A>C (p.Ala479=)
c.1752A>C (p.Ala584=)
c.1707A>C (p.Ala569=)
c.1614A>C (p.Ala538=)
9g.36219887T=CA1846328571CLTA,GNEc.1860A= (p.Ala620=)
c.1590A= (p.Ala530=)
c.1767A= (p.Ala589=)
c.1545A= (p.Ala515=)
c.485+15708T= (n.485+15708T=)
c.1437A= (p.Ala479=)
c.1752A= (p.Ala584=)
c.1707A= (p.Ala569=)
c.1614A= (p.Ala538=)
9g.36219888G>ACA373425572CLTA,GNEc.1859C>T (p.Ala620Val)
c.1589C>T (p.Ala530Val)
c.1766C>T (p.Ala589Val)
c.1544C>T (p.Ala515Val)
c.485+15709G>A (n.485+15709G>A)
c.1436C>T (p.Ala479Val)
c.1751C>T (p.Ala584Val)
c.1706C>T (p.Ala569Val)
c.1613C>T (p.Ala538Val)
9g.36219888G>CCA373425573CLTA,GNEc.1859C>G (p.Ala620Gly)
c.1589C>G (p.Ala530Gly)
c.1766C>G (p.Ala589Gly)
c.1544C>G (p.Ala515Gly)
c.485+15709G>C (n.485+15709G>C)
c.1436C>G (p.Ala479Gly)
c.1751C>G (p.Ala584Gly)
c.1706C>G (p.Ala569Gly)
c.1613C>G (p.Ala538Gly)
 gnomAD v4
9g.36219888G>TCA373425574CLTA,GNEc.1859C>A (p.Ala620Glu)
c.1589C>A (p.Ala530Glu)
c.1766C>A (p.Ala589Glu)
c.1544C>A (p.Ala515Glu)
c.485+15709G>T (n.485+15709G>T)
c.1436C>A (p.Ala479Glu)
c.1751C>A (p.Ala584Glu)
c.1706C>A (p.Ala569Glu)
c.1613C>A (p.Ala538Glu)
9g.36219889C>ACA373425577CLTA,GNEc.1858G>T (p.Ala620Ser)
c.1588G>T (p.Ala530Ser)
c.1765G>T (p.Ala589Ser)
c.1543G>T (p.Ala515Ser)
c.485+15710C>A (n.485+15710C>A)
c.1435G>T (p.Ala479Ser)
c.1750G>T (p.Ala584Ser)
c.1705G>T (p.Ala569Ser)
c.1612G>T (p.Ala538Ser)
9g.36219889C>GCA373425575CLTA,GNEc.1858G>C (p.Ala620Pro)
c.1588G>C (p.Ala530Pro)
c.1765G>C (p.Ala589Pro)
c.1543G>C (p.Ala515Pro)
c.485+15710C>G (n.485+15710C>G)
c.1435G>C (p.Ala479Pro)
c.1750G>C (p.Ala584Pro)
c.1705G>C (p.Ala569Pro)
c.1612G>C (p.Ala538Pro)
9g.36219889C>TCA373425576CLTA,GNEc.1858G>A (p.Ala620Thr)
c.1588G>A (p.Ala530Thr)
c.1765G>A (p.Ala589Thr)
c.1543G>A (p.Ala515Thr)
c.485+15710C>T (n.485+15710C>T)
c.1435G>A (p.Ala479Thr)
c.1750G>A (p.Ala584Thr)
c.1705G>A (p.Ala569Thr)
c.1612G>A (p.Ala538Thr)
9g.36219890T>ACA373425578CLTA,GNEc.1857A>T (p.Glu619Asp)
c.1587A>T (p.Glu529Asp)
c.1764A>T (p.Glu588Asp)
c.1542A>T (p.Glu514Asp)
c.485+15711T>A (n.485+15711T>A)
c.1434A>T (p.Glu478Asp)
c.1749A>T (p.Glu583Asp)
c.1704A>T (p.Glu568Asp)
c.1611A>T (p.Glu537Asp)
9g.36219890T>CCA464494955CLTA,GNEc.1857A>G (p.Glu619=)
c.1587A>G (p.Glu529=)
c.1764A>G (p.Glu588=)
c.1542A>G (p.Glu514=)
c.485+15711T>C (n.485+15711T>C)
c.1434A>G (p.Glu478=)
c.1749A>G (p.Glu583=)
c.1704A>G (p.Glu568=)
c.1611A>G (p.Glu537=)
9g.36219890T>GCA373425579CLTA,GNEc.1857A>C (p.Glu619Asp)
c.1587A>C (p.Glu529Asp)
c.1764A>C (p.Glu588Asp)
c.1542A>C (p.Glu514Asp)
c.485+15711T>G (n.485+15711T>G)
c.1434A>C (p.Glu478Asp)
c.1749A>C (p.Glu583Asp)
c.1704A>C (p.Glu568Asp)
c.1611A>C (p.Glu537Asp)
9g.36219891T>ACA373425580CLTA,GNEc.1856A>T (p.Glu619Val)
c.1586A>T (p.Glu529Val)
c.1763A>T (p.Glu588Val)
c.1541A>T (p.Glu514Val)
c.485+15712T>A (n.485+15712T>A)
c.1433A>T (p.Glu478Val)
c.1748A>T (p.Glu583Val)
c.1703A>T (p.Glu568Val)
c.1610A>T (p.Glu537Val)
9g.36219891T>CCA373425581CLTA,GNEc.1856A>G (p.Glu619Gly)
c.1586A>G (p.Glu529Gly)
c.1763A>G (p.Glu588Gly)
c.1541A>G (p.Glu514Gly)
c.485+15712T>C (n.485+15712T>C)
c.1433A>G (p.Glu478Gly)
c.1748A>G (p.Glu583Gly)
c.1703A>G (p.Glu568Gly)
c.1610A>G (p.Glu537Gly)
9g.36219891T>GCA373425582CLTA,GNEc.1856A>C (p.Glu619Ala)
c.1586A>C (p.Glu529Ala)
c.1763A>C (p.Glu588Ala)
c.1541A>C (p.Glu514Ala)
c.485+15712T>G (n.485+15712T>G)
c.1433A>C (p.Glu478Ala)
c.1748A>C (p.Glu583Ala)
c.1703A>C (p.Glu568Ala)
c.1610A>C (p.Glu537Ala)
9g.36219892C>ACA373425583CLTA,GNEc.1855G>T (p.Glu619Ter)
c.1585G>T (p.Glu529Ter)
c.1762G>T (p.Glu588Ter)
c.1540G>T (p.Glu514Ter)
c.485+15713C>A (n.485+15713C>A)
c.1432G>T (p.Glu478Ter)
c.1747G>T (p.Glu583Ter)
c.1702G>T (p.Glu568Ter)
c.1609G>T (p.Glu537Ter)
9g.36219892C>GCA373425584CLTA,GNEc.1855G>C (p.Glu619Gln)
c.1585G>C (p.Glu529Gln)
c.1762G>C (p.Glu588Gln)
c.1540G>C (p.Glu514Gln)
c.485+15713C>G (n.485+15713C>G)
c.1432G>C (p.Glu478Gln)
c.1747G>C (p.Glu583Gln)
c.1702G>C (p.Glu568Gln)
c.1609G>C (p.Glu537Gln)
9g.36219892C>TCA373425585CLTA,GNEc.1855G>A (p.Glu619Lys)
c.1585G>A (p.Glu529Lys)
c.1762G>A (p.Glu588Lys)
c.1540G>A (p.Glu514Lys)
c.485+15713C>T (n.485+15713C>T)
c.1432G>A (p.Glu478Lys)
c.1747G>A (p.Glu583Lys)
c.1702G>A (p.Glu568Lys)
c.1609G>A (p.Glu537Lys)
 ClinVar dbSNP
9g.36219893A>CCA373425586CLTA,GNEc.1854T>G (p.Ile618Met)
c.1584T>G (p.Ile528Met)
c.1761T>G (p.Ile587Met)
c.1539T>G (p.Ile513Met)
c.485+15714A>C (n.485+15714A>C)
c.1431T>G (p.Ile477Met)
c.1746T>G (p.Ile582Met)
c.1701T>G (p.Ile567Met)
c.1608T>G (p.Ile536Met)
9g.36219893A>GCA464494957CLTA,GNEc.1854T>C (p.Ile618=)
c.1584T>C (p.Ile528=)
c.1761T>C (p.Ile587=)
c.1539T>C (p.Ile513=)
c.485+15714A>G (n.485+15714A>G)
c.1431T>C (p.Ile477=)
c.1746T>C (p.Ile582=)
c.1701T>C (p.Ile567=)
c.1608T>C (p.Ile536=)
9g.36219893A>TCA464494956CLTA,GNEc.1854T>A (p.Ile618=)
c.1584T>A (p.Ile528=)
c.1761T>A (p.Ile587=)
c.1539T>A (p.Ile513=)
c.485+15714A>T (n.485+15714A>T)
c.1431T>A (p.Ile477=)
c.1746T>A (p.Ile582=)
c.1701T>A (p.Ile567=)
c.1608T>A (p.Ile536=)
9g.36219894A=CA1846328577CLTA,GNEc.1853T= (p.Ile618=)
c.1583T= (p.Ile528=)
c.1760T= (p.Ile587=)
c.1538T= (p.Ile513=)
c.485+15715A= (n.485+15715A=)
c.1430T= (p.Ile477=)
c.1745T= (p.Ile582=)
c.1700T= (p.Ile567=)
c.1607T= (p.Ile536=)
9g.36219894A>CCA373425587CLTA,GNEc.1853T>G (p.Ile618Ser)
c.1583T>G (p.Ile528Ser)
c.1760T>G (p.Ile587Ser)
c.1538T>G (p.Ile513Ser)
c.485+15715A>C (n.485+15715A>C)
c.1430T>G (p.Ile477Ser)
c.1745T>G (p.Ile582Ser)
c.1700T>G (p.Ile567Ser)
c.1607T>G (p.Ile536Ser)
9g.36219894A>GCA274075CLTA,GNEc.1853T>C (p.Ile618Thr)
c.1583T>C (p.Ile528Thr)
c.1760T>C (p.Ile587Thr)
c.1538T>C (p.Ile513Thr)
c.485+15715A>G (n.485+15715A>G)
c.1430T>C (p.Ile477Thr)
c.1745T>C (p.Ile582Thr)
c.1700T>C (p.Ile567Thr)
c.1607T>C (p.Ile536Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219894A>TCA373425588CLTA,GNEc.1853T>A (p.Ile618Asn)
c.1583T>A (p.Ile528Asn)
c.1760T>A (p.Ile587Asn)
c.1538T>A (p.Ile513Asn)
c.485+15715A>T (n.485+15715A>T)
c.1430T>A (p.Ile477Asn)
c.1745T>A (p.Ile582Asn)
c.1700T>A (p.Ile567Asn)
c.1607T>A (p.Ile536Asn)
9g.36219895T>ACA373425590CLTA,GNEc.1852A>T (p.Ile618Phe)
c.1582A>T (p.Ile528Phe)
c.1759A>T (p.Ile587Phe)
c.1537A>T (p.Ile513Phe)
c.485+15716T>A (n.485+15716T>A)
c.1429A>T (p.Ile477Phe)
c.1744A>T (p.Ile582Phe)
c.1699A>T (p.Ile567Phe)
c.1606A>T (p.Ile536Phe)
9g.36219895T>CCA373425591CLTA,GNEc.1852A>G (p.Ile618Val)
c.1582A>G (p.Ile528Val)
c.1759A>G (p.Ile587Val)
c.1537A>G (p.Ile513Val)
c.485+15716T>C (n.485+15716T>C)
c.1429A>G (p.Ile477Val)
c.1744A>G (p.Ile582Val)
c.1699A>G (p.Ile567Val)
c.1606A>G (p.Ile536Val)
 ClinVar
9g.36219895T>GCA373425589CLTA,GNEc.1852A>C (p.Ile618Leu)
c.1582A>C (p.Ile528Leu)
c.1759A>C (p.Ile587Leu)
c.1537A>C (p.Ile513Leu)
c.485+15716T>G (n.485+15716T>G)
c.1429A>C (p.Ile477Leu)
c.1744A>C (p.Ile582Leu)
c.1699A>C (p.Ile567Leu)
c.1606A>C (p.Ile536Leu)
9g.36219896G>ACA464494958CLTA,GNEc.1851C>T (p.Cys617=)
c.1581C>T (p.Cys527=)
c.1758C>T (p.Cys586=)
c.1536C>T (p.Cys512=)
c.485+15717G>A (n.485+15717G>A)
c.1428C>T (p.Cys476=)
c.1743C>T (p.Cys581=)
c.1698C>T (p.Cys566=)
c.1605C>T (p.Cys535=)
9g.36219896G>CCA373425593CLTA,GNEc.1851C>G (p.Cys617Trp)
c.1581C>G (p.Cys527Trp)
c.1758C>G (p.Cys586Trp)
c.1536C>G (p.Cys512Trp)
c.485+15717G>C (n.485+15717G>C)
c.1428C>G (p.Cys476Trp)
c.1743C>G (p.Cys581Trp)
c.1698C>G (p.Cys566Trp)
c.1605C>G (p.Cys535Trp)
9g.36219896G>TCA373425592CLTA,GNEc.1851C>A (p.Cys617Ter)
c.1581C>A (p.Cys527Ter)
c.1758C>A (p.Cys586Ter)
c.1536C>A (p.Cys512Ter)
c.485+15717G>T (n.485+15717G>T)
c.1428C>A (p.Cys476Ter)
c.1743C>A (p.Cys581Ter)
c.1698C>A (p.Cys566Ter)
c.1605C>A (p.Cys535Ter)
9g.36219897C>ACA373425594CLTA,GNEc.1850G>T (p.Cys617Phe)
c.1580G>T (p.Cys527Phe)
c.1757G>T (p.Cys586Phe)
c.1535G>T (p.Cys512Phe)
c.485+15718C>A (n.485+15718C>A)
c.1427G>T (p.Cys476Phe)
c.1742G>T (p.Cys581Phe)
c.1697G>T (p.Cys566Phe)
c.1604G>T (p.Cys535Phe)
9g.36219897C>GCA373425595CLTA,GNEc.1850G>C (p.Cys617Ser)
c.1580G>C (p.Cys527Ser)
c.1757G>C (p.Cys586Ser)
c.1535G>C (p.Cys512Ser)
c.485+15718C>G (n.485+15718C>G)
c.1427G>C (p.Cys476Ser)
c.1742G>C (p.Cys581Ser)
c.1697G>C (p.Cys566Ser)
c.1604G>C (p.Cys535Ser)
9g.36219897C>TCA373425596CLTA,GNEc.1850G>A (p.Cys617Tyr)
c.1580G>A (p.Cys527Tyr)
c.1757G>A (p.Cys586Tyr)
c.1535G>A (p.Cys512Tyr)
c.485+15718C>T (n.485+15718C>T)
c.1427G>A (p.Cys476Tyr)
c.1742G>A (p.Cys581Tyr)
c.1697G>A (p.Cys566Tyr)
c.1604G>A (p.Cys535Tyr)
 gnomAD v4
9g.36219898A>CCA373425597CLTA,GNEc.1849T>G (p.Cys617Gly)
c.1579T>G (p.Cys527Gly)
c.1756T>G (p.Cys586Gly)
c.1534T>G (p.Cys512Gly)
c.485+15719A>C (n.485+15719A>C)
c.1426T>G (p.Cys476Gly)
c.1741T>G (p.Cys581Gly)
c.1696T>G (p.Cys566Gly)
c.1603T>G (p.Cys535Gly)
9g.36219898A>GCA373425598CLTA,GNEc.1849T>C (p.Cys617Arg)
c.1579T>C (p.Cys527Arg)
c.1756T>C (p.Cys586Arg)
c.1534T>C (p.Cys512Arg)
c.485+15719A>G (n.485+15719A>G)
c.1426T>C (p.Cys476Arg)
c.1741T>C (p.Cys581Arg)
c.1696T>C (p.Cys566Arg)
c.1603T>C (p.Cys535Arg)
9g.36219898A>TCA373425599CLTA,GNEc.1849T>A (p.Cys617Ser)
c.1579T>A (p.Cys527Ser)
c.1756T>A (p.Cys586Ser)
c.1534T>A (p.Cys512Ser)
c.485+15719A>T (n.485+15719A>T)
c.1426T>A (p.Cys476Ser)
c.1741T>A (p.Cys581Ser)
c.1696T>A (p.Cys566Ser)
c.1603T>A (p.Cys535Ser)
9g.36219899C>ACA464494959CLTA,GNEc.1848G>T (p.Gly616=)
c.1578G>T (p.Gly526=)
c.1755G>T (p.Gly585=)
c.1533G>T (p.Gly511=)
c.485+15720C>A (n.485+15720C>A)
c.1425G>T (p.Gly475=)
c.1740G>T (p.Gly580=)
c.1695G>T (p.Gly565=)
c.1602G>T (p.Gly534=)
9g.36219899C=CA1846328584CLTA,GNEc.1848G= (p.Gly616=)
c.1578G= (p.Gly526=)
c.1755G= (p.Gly585=)
c.1533G= (p.Gly511=)
c.485+15720C= (n.485+15720C=)
c.1425G= (p.Gly475=)
c.1740G= (p.Gly580=)
c.1695G= (p.Gly565=)
c.1602G= (p.Gly534=)
9g.36219899C>GCA464494960CLTA,GNEc.1848G>C (p.Gly616=)
c.1578G>C (p.Gly526=)
c.1755G>C (p.Gly585=)
c.1533G>C (p.Gly511=)
c.485+15720C>G (n.485+15720C>G)
c.1425G>C (p.Gly475=)
c.1740G>C (p.Gly580=)
c.1695G>C (p.Gly565=)
c.1602G>C (p.Gly534=)
 ClinVar dbSNP gnomAD v4
9g.36219899C>TCA464494961CLTA,GNEc.1848G>A (p.Gly616=)
c.1578G>A (p.Gly526=)
c.1755G>A (p.Gly585=)
c.1533G>A (p.Gly511=)
c.485+15720C>T (n.485+15720C>T)
c.1425G>A (p.Gly475=)
c.1740G>A (p.Gly580=)
c.1695G>A (p.Gly565=)
c.1602G>A (p.Gly534=)
 dbSNP
9g.36219901delCA2695206253CLTA,GNEc.1848del (p.Cys617AlafsTer?)
c.1578del (p.Cys527AlafsTer?)
c.1755del (p.Cys586AlafsTer?)
c.1533del (p.Cys512AlafsTer?)
c.485+15722del (n.485+15722del)
c.1425del (p.Cys476AlafsTer?)
c.1740del (p.Cys581AlafsTer?)
c.1695del (p.Cys566AlafsTer?)
c.1602del (p.Cys535AlafsTer?)
9g.36219900C>ACA373425602CLTA,GNEc.1847G>T (p.Gly616Val)
c.1577G>T (p.Gly526Val)
c.1754G>T (p.Gly585Val)
c.1532G>T (p.Gly511Val)
c.485+15721C>A (n.485+15721C>A)
c.1424G>T (p.Gly475Val)
c.1739G>T (p.Gly580Val)
c.1694G>T (p.Gly565Val)
c.1601G>T (p.Gly534Val)
9g.36219900C>GCA373425600CLTA,GNEc.1847G>C (p.Gly616Ala)
c.1577G>C (p.Gly526Ala)
c.1754G>C (p.Gly585Ala)
c.1532G>C (p.Gly511Ala)
c.485+15721C>G (n.485+15721C>G)
c.1424G>C (p.Gly475Ala)
c.1739G>C (p.Gly580Ala)
c.1694G>C (p.Gly565Ala)
c.1601G>C (p.Gly534Ala)
9g.36219900C>TCA373425601CLTA,GNEc.1847G>A (p.Gly616Glu)
c.1577G>A (p.Gly526Glu)
c.1754G>A (p.Gly585Glu)
c.1532G>A (p.Gly511Glu)
c.485+15721C>T (n.485+15721C>T)
c.1424G>A (p.Gly475Glu)
c.1739G>A (p.Gly580Glu)
c.1694G>A (p.Gly565Glu)
c.1601G>A (p.Gly534Glu)
9g.36219901C>ACA373425603CLTA,GNEc.1846G>T (p.Gly616Trp)
c.1576G>T (p.Gly526Trp)
c.1753G>T (p.Gly585Trp)
c.1531G>T (p.Gly511Trp)
c.485+15722C>A (n.485+15722C>A)
c.1423G>T (p.Gly475Trp)
c.1738G>T (p.Gly580Trp)
c.1693G>T (p.Gly565Trp)
c.1600G>T (p.Gly534Trp)
9g.36219901C>GCA373425604CLTA,GNEc.1846G>C (p.Gly616Arg)
c.1576G>C (p.Gly526Arg)
c.1753G>C (p.Gly585Arg)
c.1531G>C (p.Gly511Arg)
c.485+15722C>G (n.485+15722C>G)
c.1423G>C (p.Gly475Arg)
c.1738G>C (p.Gly580Arg)
c.1693G>C (p.Gly565Arg)
c.1600G>C (p.Gly534Arg)
9g.36219901C>TCA373425605CLTA,GNEc.1846G>A (p.Gly616Arg)
c.1576G>A (p.Gly526Arg)
c.1753G>A (p.Gly585Arg)
c.1531G>A (p.Gly511Arg)
c.485+15722C>T (n.485+15722C>T)
c.1423G>A (p.Gly475Arg)
c.1738G>A (p.Gly580Arg)
c.1693G>A (p.Gly565Arg)
c.1600G>A (p.Gly534Arg)
9g.36219902A=CA1846328585CLTA,GNEc.1845T= (p.His615=)
c.1575T= (p.His525=)
c.1752T= (p.His584=)
c.1530T= (p.His510=)
c.485+15723A= (n.485+15723A=)
c.1422T= (p.His474=)
c.1737T= (p.His579=)
c.1692T= (p.His564=)
c.1599T= (p.His533=)
9g.36219902A>CCA373425606CLTA,GNEc.1845T>G (p.His615Gln)
c.1575T>G (p.His525Gln)
c.1752T>G (p.His584Gln)
c.1530T>G (p.His510Gln)
c.485+15723A>C (n.485+15723A>C)
c.1422T>G (p.His474Gln)
c.1737T>G (p.His579Gln)
c.1692T>G (p.His564Gln)
c.1599T>G (p.His533Gln)
9g.36219902A>GCA464494962CLTA,GNEc.1845T>C (p.His615=)
c.1575T>C (p.His525=)
c.1752T>C (p.His584=)
c.1530T>C (p.His510=)
c.485+15723A>G (n.485+15723A>G)
c.1422T>C (p.His474=)
c.1737T>C (p.His579=)
c.1692T>C (p.His564=)
c.1599T>C (p.His533=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36219902A>TCA373425607CLTA,GNEc.1845T>A (p.His615Gln)
c.1575T>A (p.His525Gln)
c.1752T>A (p.His584Gln)
c.1530T>A (p.His510Gln)
c.485+15723A>T (n.485+15723A>T)
c.1422T>A (p.His474Gln)
c.1737T>A (p.His579Gln)
c.1692T>A (p.His564Gln)
c.1599T>A (p.His533Gln)
9g.36219903T>ACA373425608CLTA,GNEc.1844A>T (p.His615Leu)
c.1574A>T (p.His525Leu)
c.1751A>T (p.His584Leu)
c.1529A>T (p.His510Leu)
c.485+15724T>A (n.485+15724T>A)
c.1421A>T (p.His474Leu)
c.1736A>T (p.His579Leu)
c.1691A>T (p.His564Leu)
c.1598A>T (p.His533Leu)
9g.36219903T>CCA373425610CLTA,GNEc.1844A>G (p.His615Arg)
c.1574A>G (p.His525Arg)
c.1751A>G (p.His584Arg)
c.1529A>G (p.His510Arg)
c.485+15724T>C (n.485+15724T>C)
c.1421A>G (p.His474Arg)
c.1736A>G (p.His579Arg)
c.1691A>G (p.His564Arg)
c.1598A>G (p.His533Arg)
9g.36219903T>GCA373425609CLTA,GNEc.1844A>C (p.His615Pro)
c.1574A>C (p.His525Pro)
c.1751A>C (p.His584Pro)
c.1529A>C (p.His510Pro)
c.485+15724T>G (n.485+15724T>G)
c.1421A>C (p.His474Pro)
c.1736A>C (p.His579Pro)
c.1691A>C (p.His564Pro)
c.1598A>C (p.His533Pro)
9g.36219904G>ACA373425611CLTA,GNEc.1843C>T (p.His615Tyr)
c.1573C>T (p.His525Tyr)
c.1750C>T (p.His584Tyr)
c.1528C>T (p.His510Tyr)
c.485+15725G>A (n.485+15725G>A)
c.1420C>T (p.His474Tyr)
c.1735C>T (p.His579Tyr)
c.1690C>T (p.His564Tyr)
c.1597C>T (p.His533Tyr)
 dbSNP gnomAD v2 gnomAD v4
9g.36219904G>CCA373425612CLTA,GNEc.1843C>G (p.His615Asp)
c.1573C>G (p.His525Asp)
c.1750C>G (p.His584Asp)
c.1528C>G (p.His510Asp)
c.485+15725G>C (n.485+15725G>C)
c.1420C>G (p.His474Asp)
c.1735C>G (p.His579Asp)
c.1690C>G (p.His564Asp)
c.1597C>G (p.His533Asp)
9g.36219904G=CA1846328589CLTA,GNEc.1843C= (p.His615=)
c.1573C= (p.His525=)
c.1750C= (p.His584=)
c.1528C= (p.His510=)
c.485+15725G= (n.485+15725G=)
c.1420C= (p.His474=)
c.1735C= (p.His579=)
c.1690C= (p.His564=)
c.1597C= (p.His533=)
9g.36219904G>TCA373425613CLTA,GNEc.1843C>A (p.His615Asn)
c.1573C>A (p.His525Asn)
c.1750C>A (p.His584Asn)
c.1528C>A (p.His510Asn)
c.485+15725G>T (n.485+15725G>T)
c.1420C>A (p.His474Asn)
c.1735C>A (p.His579Asn)
c.1690C>A (p.His564Asn)
c.1597C>A (p.His533Asn)
 gnomAD v4
9g.36219905G>ACA464494963CLTA,GNEc.1842C>T (p.Ser614=)
c.1572C>T (p.Ser524=)
c.1749C>T (p.Ser583=)
c.1527C>T (p.Ser509=)
c.485+15726G>A (n.485+15726G>A)
c.1419C>T (p.Ser473=)
c.1734C>T (p.Ser578=)
c.1689C>T (p.Ser563=)
c.1596C>T (p.Ser532=)
 ClinVar
9g.36219905G>CCA373425614CLTA,GNEc.1842C>G (p.Ser614Arg)
c.1572C>G (p.Ser524Arg)
c.1749C>G (p.Ser583Arg)
c.1527C>G (p.Ser509Arg)
c.485+15726G>C (n.485+15726G>C)
c.1419C>G (p.Ser473Arg)
c.1734C>G (p.Ser578Arg)
c.1689C>G (p.Ser563Arg)
c.1596C>G (p.Ser532Arg)
9g.36219905G>TCA373425615CLTA,GNEc.1842C>A (p.Ser614Arg)
c.1572C>A (p.Ser524Arg)
c.1749C>A (p.Ser583Arg)
c.1527C>A (p.Ser509Arg)
c.485+15726G>T (n.485+15726G>T)
c.1419C>A (p.Ser473Arg)
c.1734C>A (p.Ser578Arg)
c.1689C>A (p.Ser563Arg)
c.1596C>A (p.Ser532Arg)
9g.36219906C>ACA373425616CLTA,GNEc.1841G>T (p.Ser614Ile)
c.1571G>T (p.Ser524Ile)
c.1748G>T (p.Ser583Ile)
c.1526G>T (p.Ser509Ile)
c.485+15727C>A (n.485+15727C>A)
c.1418G>T (p.Ser473Ile)
c.1733G>T (p.Ser578Ile)
c.1688G>T (p.Ser563Ile)
c.1595G>T (p.Ser532Ile)
9g.36219906C=CA1846328591CLTA,GNEc.1841G= (p.Ser614=)
c.1571G= (p.Ser524=)
c.1748G= (p.Ser583=)
c.1526G= (p.Ser509=)
c.485+15727C= (n.485+15727C=)
c.1418G= (p.Ser473=)
c.1733G= (p.Ser578=)
c.1688G= (p.Ser563=)
c.1595G= (p.Ser532=)
9g.36219906C>GCA373425617CLTA,GNEc.1841G>C (p.Ser614Thr)
c.1571G>C (p.Ser524Thr)
c.1748G>C (p.Ser583Thr)
c.1526G>C (p.Ser509Thr)
c.485+15727C>G (n.485+15727C>G)
c.1418G>C (p.Ser473Thr)
c.1733G>C (p.Ser578Thr)
c.1688G>C (p.Ser563Thr)
c.1595G>C (p.Ser532Thr)
 gnomAD v4
9g.36219906C>TCA373425618CLTA,GNEc.1841G>A (p.Ser614Asn)
c.1571G>A (p.Ser524Asn)
c.1748G>A (p.Ser583Asn)
c.1526G>A (p.Ser509Asn)
c.485+15727C>T (n.485+15727C>T)
c.1418G>A (p.Ser473Asn)
c.1733G>A (p.Ser578Asn)
c.1688G>A (p.Ser563Asn)
c.1595G>A (p.Ser532Asn)
 dbSNP gnomAD v4
9g.36219906dupCA2695206254CLTA,GNEc.1841dup (p.Ser614ArgfsTer6)
c.1571dup (p.Ser524ArgfsTer6)
c.1748dup (p.Ser583ArgfsTer6)
c.1526dup (p.Ser509ArgfsTer6)
c.485+15727dup (n.485+15727dup)
c.1418dup (p.Ser473ArgfsTer6)
c.1733dup (p.Ser578ArgfsTer6)
c.1688dup (p.Ser563ArgfsTer6)
c.1595dup (p.Ser532ArgfsTer6)
9g.36219907T>ACA373425619CLTA,GNEc.1840A>T (p.Ser614Cys)
c.1570A>T (p.Ser524Cys)
c.1747A>T (p.Ser583Cys)
c.1525A>T (p.Ser509Cys)
c.485+15728T>A (n.485+15728T>A)
c.1417A>T (p.Ser473Cys)
c.1732A>T (p.Ser578Cys)
c.1687A>T (p.Ser563Cys)
c.1594A>T (p.Ser532Cys)
 gnomAD v4
9g.36219907T>CCA373425620CLTA,GNEc.1840A>G (p.Ser614Gly)
c.1570A>G (p.Ser524Gly)
c.1747A>G (p.Ser583Gly)
c.1525A>G (p.Ser509Gly)
c.485+15728T>C (n.485+15728T>C)
c.1417A>G (p.Ser473Gly)
c.1732A>G (p.Ser578Gly)
c.1687A>G (p.Ser563Gly)
c.1594A>G (p.Ser532Gly)
9g.36219907T>GCA373425621CLTA,GNEc.1840A>C (p.Ser614Arg)
c.1570A>C (p.Ser524Arg)
c.1747A>C (p.Ser583Arg)
c.1525A>C (p.Ser509Arg)
c.485+15728T>G (n.485+15728T>G)
c.1417A>C (p.Ser473Arg)
c.1732A>C (p.Ser578Arg)
c.1687A>C (p.Ser563Arg)
c.1594A>C (p.Ser532Arg)
9g.36219908T>ACA464494966CLTA,GNEc.1839A>T (p.Gly613=)
c.1569A>T (p.Gly523=)
c.1746A>T (p.Gly582=)
c.1524A>T (p.Gly508=)
c.485+15729T>A (n.485+15729T>A)
c.1416A>T (p.Gly472=)
c.1731A>T (p.Gly577=)
c.1686A>T (p.Gly562=)
c.1593A>T (p.Gly531=)
9g.36219908T>CCA464494965CLTA,GNEc.1839A>G (p.Gly613=)
c.1569A>G (p.Gly523=)
c.1746A>G (p.Gly582=)
c.1524A>G (p.Gly508=)
c.485+15729T>C (n.485+15729T>C)
c.1416A>G (p.Gly472=)
c.1731A>G (p.Gly577=)
c.1686A>G (p.Gly562=)
c.1593A>G (p.Gly531=)
 COSMIC COSMIC COSMIC
9g.36219908T>GCA464494964CLTA,GNEc.1839A>C (p.Gly613=)
c.1569A>C (p.Gly523=)
c.1746A>C (p.Gly582=)
c.1524A>C (p.Gly508=)
c.485+15729T>G (n.485+15729T>G)
c.1416A>C (p.Gly472=)
c.1731A>C (p.Gly577=)
c.1686A>C (p.Gly562=)
c.1593A>C (p.Gly531=)
9g.36219909C>ACA373425624CLTA,GNEc.1838G>T (p.Gly613Val)
c.1568G>T (p.Gly523Val)
c.1745G>T (p.Gly582Val)
c.1523G>T (p.Gly508Val)
c.485+15730C>A (n.485+15730C>A)
c.1415G>T (p.Gly472Val)
c.1730G>T (p.Gly577Val)
c.1685G>T (p.Gly562Val)
c.1592G>T (p.Gly531Val)
9g.36219909C>GCA373425623CLTA,GNEc.1838G>C (p.Gly613Ala)
c.1568G>C (p.Gly523Ala)
c.1745G>C (p.Gly582Ala)
c.1523G>C (p.Gly508Ala)
c.485+15730C>G (n.485+15730C>G)
c.1415G>C (p.Gly472Ala)
c.1730G>C (p.Gly577Ala)
c.1685G>C (p.Gly562Ala)
c.1592G>C (p.Gly531Ala)
9g.36219909C>TCA373425622CLTA,GNEc.1838G>A (p.Gly613Glu)
c.1568G>A (p.Gly523Glu)
c.1745G>A (p.Gly582Glu)
c.1523G>A (p.Gly508Glu)
c.485+15730C>T (n.485+15730C>T)
c.1415G>A (p.Gly472Glu)
c.1730G>A (p.Gly577Glu)
c.1685G>A (p.Gly562Glu)
c.1592G>A (p.Gly531Glu)
9g.36219910C>ACA373425625CLTA,GNEc.1837G>T (p.Gly613Ter)
c.1567G>T (p.Gly523Ter)
c.1744G>T (p.Gly582Ter)
c.1522G>T (p.Gly508Ter)
c.485+15731C>A (n.485+15731C>A)
c.1414G>T (p.Gly472Ter)
c.1729G>T (p.Gly577Ter)
c.1684G>T (p.Gly562Ter)
c.1591G>T (p.Gly531Ter)
9g.36219910C>GCA373425627CLTA,GNEc.1837G>C (p.Gly613Arg)
c.1567G>C (p.Gly523Arg)
c.1744G>C (p.Gly582Arg)
c.1522G>C (p.Gly508Arg)
c.485+15731C>G (n.485+15731C>G)
c.1414G>C (p.Gly472Arg)
c.1729G>C (p.Gly577Arg)
c.1684G>C (p.Gly562Arg)
c.1591G>C (p.Gly531Arg)
9g.36219910C>TCA373425626CLTA,GNEc.1837G>A (p.Gly613Arg)
c.1567G>A (p.Gly523Arg)
c.1744G>A (p.Gly582Arg)
c.1522G>A (p.Gly508Arg)
c.485+15731C>T (n.485+15731C>T)
c.1414G>A (p.Gly472Arg)
c.1729G>A (p.Gly577Arg)
c.1684G>A (p.Gly562Arg)
c.1591G>A (p.Gly531Arg)
9g.36219911A>CCA373425628CLTA,GNEc.1836T>G (p.Cys612Trp)
c.1566T>G (p.Cys522Trp)
c.1743T>G (p.Cys581Trp)
c.1521T>G (p.Cys507Trp)
c.485+15732A>C (n.485+15732A>C)
c.1413T>G (p.Cys471Trp)
c.1728T>G (p.Cys576Trp)
c.1683T>G (p.Cys561Trp)
c.1590T>G (p.Cys530Trp)
9g.36219911A>GCA464494967CLTA,GNEc.1836T>C (p.Cys612=)
c.1566T>C (p.Cys522=)
c.1743T>C (p.Cys581=)
c.1521T>C (p.Cys507=)
c.485+15732A>G (n.485+15732A>G)
c.1413T>C (p.Cys471=)
c.1728T>C (p.Cys576=)
c.1683T>C (p.Cys561=)
c.1590T>C (p.Cys530=)
9g.36219911A>TCA373425629CLTA,GNEc.1836T>A (p.Cys612Ter)
c.1566T>A (p.Cys522Ter)
c.1743T>A (p.Cys581Ter)
c.1521T>A (p.Cys507Ter)
c.485+15732A>T (n.485+15732A>T)
c.1413T>A (p.Cys471Ter)
c.1728T>A (p.Cys576Ter)
c.1683T>A (p.Cys561Ter)
c.1590T>A (p.Cys530Ter)
9g.36219912C>ACA5056431CLTA,GNEc.1835G>T (p.Cys612Phe)
c.1565G>T (p.Cys522Phe)
c.1742G>T (p.Cys581Phe)
c.1520G>T (p.Cys507Phe)
c.485+15733C>A (n.485+15733C>A)
c.1412G>T (p.Cys471Phe)
c.1727G>T (p.Cys576Phe)
c.1682G>T (p.Cys561Phe)
c.1589G>T (p.Cys530Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219912C=CA1846328602CLTA,GNEc.1835G= (p.Cys612=)
c.1565G= (p.Cys522=)
c.1742G= (p.Cys581=)
c.1520G= (p.Cys507=)
c.485+15733C= (n.485+15733C=)
c.1412G= (p.Cys471=)
c.1727G= (p.Cys576=)
c.1682G= (p.Cys561=)
c.1589G= (p.Cys530=)
9g.36219912C>GCA373425630CLTA,GNEc.1835G>C (p.Cys612Ser)
c.1565G>C (p.Cys522Ser)
c.1742G>C (p.Cys581Ser)
c.1520G>C (p.Cys507Ser)
c.485+15733C>G (n.485+15733C>G)
c.1412G>C (p.Cys471Ser)
c.1727G>C (p.Cys576Ser)
c.1682G>C (p.Cys561Ser)
c.1589G>C (p.Cys530Ser)
9g.36219912C>TCA373425631CLTA,GNEc.1835G>A (p.Cys612Tyr)
c.1565G>A (p.Cys522Tyr)
c.1742G>A (p.Cys581Tyr)
c.1520G>A (p.Cys507Tyr)
c.485+15733C>T (n.485+15733C>T)
c.1412G>A (p.Cys471Tyr)
c.1727G>A (p.Cys576Tyr)
c.1682G>A (p.Cys561Tyr)
c.1589G>A (p.Cys530Tyr)
9g.36219913A>CCA373425632CLTA,GNEc.1834T>G (p.Cys612Gly)
c.1564T>G (p.Cys522Gly)
c.1741T>G (p.Cys581Gly)
c.1519T>G (p.Cys507Gly)
c.485+15734A>C (n.485+15734A>C)
c.1411T>G (p.Cys471Gly)
c.1726T>G (p.Cys576Gly)
c.1681T>G (p.Cys561Gly)
c.1588T>G (p.Cys530Gly)
9g.36219913A>GCA373425633CLTA,GNEc.1834T>C (p.Cys612Arg)
c.1564T>C (p.Cys522Arg)
c.1741T>C (p.Cys581Arg)
c.1519T>C (p.Cys507Arg)
c.485+15734A>G (n.485+15734A>G)
c.1411T>C (p.Cys471Arg)
c.1726T>C (p.Cys576Arg)
c.1681T>C (p.Cys561Arg)
c.1588T>C (p.Cys530Arg)
9g.36219913A>TCA373425634CLTA,GNEc.1834T>A (p.Cys612Ser)
c.1564T>A (p.Cys522Ser)
c.1741T>A (p.Cys581Ser)
c.1519T>A (p.Cys507Ser)
c.485+15734A>T (n.485+15734A>T)
c.1411T>A (p.Cys471Ser)
c.1726T>A (p.Cys576Ser)
c.1681T>A (p.Cys561Ser)
c.1588T>A (p.Cys530Ser)
9g.36219913_36219914delCA913157662CLTA,GNEc.1833_1834del (p.Cys612TrpfsTer7)
c.1563_1564del (p.Cys522TrpfsTer7)
c.1740_1741del (p.Cys581TrpfsTer7)
c.1518_1519del (p.Cys507TrpfsTer7)
c.485+15734_485+15735del (n.485+15734_485+15735del)
c.1410_1411del (p.Cys471TrpfsTer7)
c.1725_1726del (p.Cys576TrpfsTer7)
c.1680_1681del (p.Cys561TrpfsTer7)
c.1587_1588del (p.Cys530TrpfsTer7)
9g.36219913_36219914delinsAGCA1846328609CLTA,GNEc.1833_1834delinsCT (p.Ser611=)
c.1563_1564delinsCT (p.Ser521=)
c.1740_1741delinsCT (p.Ser580=)
c.1518_1519delinsCT (p.Ser506=)
c.485+15734_485+15735delinsAG (n.485+15734_485+15735delinsAG)
c.1410_1411delinsCT (p.Ser470=)
c.1725_1726delinsCT (p.Ser575=)
c.1680_1681delinsCT (p.Ser560=)
c.1587_1588delinsCT (p.Ser529=)
9g.36219914G>ACA464494968CLTA,GNEc.1833C>T (p.Ser611=)
c.1563C>T (p.Ser521=)
c.1740C>T (p.Ser580=)
c.1518C>T (p.Ser506=)
c.485+15735G>A (n.485+15735G>A)
c.1410C>T (p.Ser470=)
c.1725C>T (p.Ser575=)
c.1680C>T (p.Ser560=)
c.1587C>T (p.Ser529=)
9g.36219914G>CCA464494969CLTA,GNEc.1833C>G (p.Ser611=)
c.1563C>G (p.Ser521=)
c.1740C>G (p.Ser580=)
c.1518C>G (p.Ser506=)
c.485+15735G>C (n.485+15735G>C)
c.1410C>G (p.Ser470=)
c.1725C>G (p.Ser575=)
c.1680C>G (p.Ser560=)
c.1587C>G (p.Ser529=)
9g.36219914G>TCA464494970CLTA,GNEc.1833C>A (p.Ser611=)
c.1563C>A (p.Ser521=)
c.1740C>A (p.Ser580=)
c.1518C>A (p.Ser506=)
c.485+15735G>T (n.485+15735G>T)
c.1410C>A (p.Ser470=)
c.1725C>A (p.Ser575=)
c.1680C>A (p.Ser560=)
c.1587C>A (p.Ser529=)
9g.36219915delCA658822294CLTA,GNEc.1833del (p.Cys612ValfsTer?)
c.1563del (p.Cys522ValfsTer?)
c.1740del (p.Cys581ValfsTer?)
c.1518del (p.Cys507ValfsTer?)
c.485+15736del (n.485+15736del)
c.1410del (p.Cys471ValfsTer?)
c.1725del (p.Cys576ValfsTer?)
c.1680del (p.Cys561ValfsTer?)
c.1587del (p.Cys530ValfsTer?)
 ClinVar dbSNP
9g.36219915G>ACA373425635CLTA,GNEc.1832C>T (p.Ser611Phe)
c.1562C>T (p.Ser521Phe)
c.1739C>T (p.Ser580Phe)
c.1517C>T (p.Ser506Phe)
c.485+15736G>A (n.485+15736G>A)
c.1409C>T (p.Ser470Phe)
c.1724C>T (p.Ser575Phe)
c.1679C>T (p.Ser560Phe)
c.1586C>T (p.Ser529Phe)
9g.36219915G>CCA373425636CLTA,GNEc.1832C>G (p.Ser611Cys)
c.1562C>G (p.Ser521Cys)
c.1739C>G (p.Ser580Cys)
c.1517C>G (p.Ser506Cys)
c.485+15736G>C (n.485+15736G>C)
c.1409C>G (p.Ser470Cys)
c.1724C>G (p.Ser575Cys)
c.1679C>G (p.Ser560Cys)
c.1586C>G (p.Ser529Cys)
9g.36219915G>TCA373425637CLTA,GNEc.1832C>A (p.Ser611Tyr)
c.1562C>A (p.Ser521Tyr)
c.1739C>A (p.Ser580Tyr)
c.1517C>A (p.Ser506Tyr)
c.485+15736G>T (n.485+15736G>T)
c.1409C>A (p.Ser470Tyr)
c.1724C>A (p.Ser575Tyr)
c.1679C>A (p.Ser560Tyr)
c.1586C>A (p.Ser529Tyr)
9g.36219915_36219916delinsGACA1846328624CLTA,GNEc.1831_1832delinsTC (p.Ser611=)
c.1561_1562delinsTC (p.Ser521=)
c.1738_1739delinsTC (p.Ser580=)
c.1516_1517delinsTC (p.Ser506=)
c.485+15736_485+15737delinsGA (n.485+15736_485+15737delinsGA)
c.1408_1409delinsTC (p.Ser470=)
c.1723_1724delinsTC (p.Ser575=)
c.1678_1679delinsTC (p.Ser560=)
c.1585_1586delinsTC (p.Ser529=)
9g.36219916A>CCA373425640CLTA,GNEc.1831T>G (p.Ser611Ala)
c.1561T>G (p.Ser521Ala)
c.1738T>G (p.Ser580Ala)
c.1516T>G (p.Ser506Ala)
c.485+15737A>C (n.485+15737A>C)
c.1408T>G (p.Ser470Ala)
c.1723T>G (p.Ser575Ala)
c.1678T>G (p.Ser560Ala)
c.1585T>G (p.Ser529Ala)
9g.36219916A>GCA373425639CLTA,GNEc.1831T>C (p.Ser611Pro)
c.1561T>C (p.Ser521Pro)
c.1738T>C (p.Ser580Pro)
c.1516T>C (p.Ser506Pro)
c.485+15737A>G (n.485+15737A>G)
c.1408T>C (p.Ser470Pro)
c.1723T>C (p.Ser575Pro)
c.1678T>C (p.Ser560Pro)
c.1585T>C (p.Ser529Pro)
9g.36219916A>TCA373425638CLTA,GNEc.1831T>A (p.Ser611Thr)
c.1561T>A (p.Ser521Thr)
c.1738T>A (p.Ser580Thr)
c.1516T>A (p.Ser506Thr)
c.485+15737A>T (n.485+15737A>T)
c.1408T>A (p.Ser470Thr)
c.1723T>A (p.Ser575Thr)
c.1678T>A (p.Ser560Thr)
c.1585T>A (p.Ser529Thr)
9g.36219917delCA1846328628CLTA,GNEc.1831del (p.Ser611ProfsTer?)
c.1561del (p.Ser521ProfsTer?)
c.1738del (p.Ser580ProfsTer?)
c.1516del (p.Ser506ProfsTer?)
c.485+15738del (n.485+15738del)
c.1408del (p.Ser470ProfsTer?)
c.1723del (p.Ser575ProfsTer?)
c.1678del (p.Ser560ProfsTer?)
c.1585del (p.Ser529ProfsTer?)
 dbSNP gnomAD v4
9g.36219917A>CCA373425641CLTA,GNEc.1830T>G (p.Cys610Trp)
c.1560T>G (p.Cys520Trp)
c.1737T>G (p.Cys579Trp)
c.1515T>G (p.Cys505Trp)
c.485+15738A>C (n.485+15738A>C)
c.1407T>G (p.Cys469Trp)
c.1722T>G (p.Cys574Trp)
c.1677T>G (p.Cys559Trp)
c.1584T>G (p.Cys528Trp)
9g.36219917A>GCA464494971CLTA,GNEc.1830T>C (p.Cys610=)
c.1560T>C (p.Cys520=)
c.1737T>C (p.Cys579=)
c.1515T>C (p.Cys505=)
c.485+15738A>G (n.485+15738A>G)
c.1407T>C (p.Cys469=)
c.1722T>C (p.Cys574=)
c.1677T>C (p.Cys559=)
c.1584T>C (p.Cys528=)
9g.36219917A>TCA373425642CLTA,GNEc.1830T>A (p.Cys610Ter)
c.1560T>A (p.Cys520Ter)
c.1737T>A (p.Cys579Ter)
c.1515T>A (p.Cys505Ter)
c.485+15738A>T (n.485+15738A>T)
c.1407T>A (p.Cys469Ter)
c.1722T>A (p.Cys574Ter)
c.1677T>A (p.Cys559Ter)
c.1584T>A (p.Cys528Ter)
9g.36219918C>ACA373425643CLTA,GNEc.1829G>T (p.Cys610Phe)
c.1559G>T (p.Cys520Phe)
c.1736G>T (p.Cys579Phe)
c.1514G>T (p.Cys505Phe)
c.485+15739C>A (n.485+15739C>A)
c.1406G>T (p.Cys469Phe)
c.1721G>T (p.Cys574Phe)
c.1676G>T (p.Cys559Phe)
c.1583G>T (p.Cys528Phe)
9g.36219918C>GCA373425644CLTA,GNEc.1829G>C (p.Cys610Ser)
c.1559G>C (p.Cys520Ser)
c.1736G>C (p.Cys579Ser)
c.1514G>C (p.Cys505Ser)
c.485+15739C>G (n.485+15739C>G)
c.1406G>C (p.Cys469Ser)
c.1721G>C (p.Cys574Ser)
c.1676G>C (p.Cys559Ser)
c.1583G>C (p.Cys528Ser)
9g.36219918C>TCA373425645CLTA,GNEc.1829G>A (p.Cys610Tyr)
c.1559G>A (p.Cys520Tyr)
c.1736G>A (p.Cys579Tyr)
c.1514G>A (p.Cys505Tyr)
c.485+15739C>T (n.485+15739C>T)
c.1406G>A (p.Cys469Tyr)
c.1721G>A (p.Cys574Tyr)
c.1676G>A (p.Cys559Tyr)
c.1583G>A (p.Cys528Tyr)
9g.36219919A>CCA373425646CLTA,GNEc.1828T>G (p.Cys610Gly)
c.1558T>G (p.Cys520Gly)
c.1735T>G (p.Cys579Gly)
c.1513T>G (p.Cys505Gly)
c.485+15740A>C (n.485+15740A>C)
c.1405T>G (p.Cys469Gly)
c.1720T>G (p.Cys574Gly)
c.1675T>G (p.Cys559Gly)
c.1582T>G (p.Cys528Gly)
9g.36219919A>GCA373425647CLTA,GNEc.1828T>C (p.Cys610Arg)
c.1558T>C (p.Cys520Arg)
c.1735T>C (p.Cys579Arg)
c.1513T>C (p.Cys505Arg)
c.485+15740A>G (n.485+15740A>G)
c.1405T>C (p.Cys469Arg)
c.1720T>C (p.Cys574Arg)
c.1675T>C (p.Cys559Arg)
c.1582T>C (p.Cys528Arg)
9g.36219919A>TCA373425648CLTA,GNEc.1828T>A (p.Cys610Ser)
c.1558T>A (p.Cys520Ser)
c.1735T>A (p.Cys579Ser)
c.1513T>A (p.Cys505Ser)
c.485+15740A>T (n.485+15740A>T)
c.1405T>A (p.Cys469Ser)
c.1720T>A (p.Cys574Ser)
c.1675T>A (p.Cys559Ser)
c.1582T>A (p.Cys528Ser)
9g.36219920A>CCA373425649CLTA,GNEc.1827T>G (p.Asp609Glu)
c.1557T>G (p.Asp519Glu)
c.1734T>G (p.Asp578Glu)
c.1512T>G (p.Asp504Glu)
c.485+15741A>C (n.485+15741A>C)
c.1404T>G (p.Asp468Glu)
c.1719T>G (p.Asp573Glu)
c.1674T>G (p.Asp558Glu)
c.1581T>G (p.Asp527Glu)
9g.36219920A>GCA464494972CLTA,GNEc.1827T>C (p.Asp609=)
c.1557T>C (p.Asp519=)
c.1734T>C (p.Asp578=)
c.1512T>C (p.Asp504=)
c.485+15741A>G (n.485+15741A>G)
c.1404T>C (p.Asp468=)
c.1719T>C (p.Asp573=)
c.1674T>C (p.Asp558=)
c.1581T>C (p.Asp527=)
9g.36219920A>TCA373425650CLTA,GNEc.1827T>A (p.Asp609Glu)
c.1557T>A (p.Asp519Glu)
c.1734T>A (p.Asp578Glu)
c.1512T>A (p.Asp504Glu)
c.485+15741A>T (n.485+15741A>T)
c.1404T>A (p.Asp468Glu)
c.1719T>A (p.Asp573Glu)
c.1674T>A (p.Asp558Glu)
c.1581T>A (p.Asp527Glu)
9g.36219921T>ACA373425651CLTA,GNEc.1826A>T (p.Asp609Val)
c.1556A>T (p.Asp519Val)
c.1733A>T (p.Asp578Val)
c.1511A>T (p.Asp504Val)
c.485+15742T>A (n.485+15742T>A)
c.1403A>T (p.Asp468Val)
c.1718A>T (p.Asp573Val)
c.1673A>T (p.Asp558Val)
c.1580A>T (p.Asp527Val)
 gnomAD v4
9g.36219921T>CCA373425652CLTA,GNEc.1826A>G (p.Asp609Gly)
c.1556A>G (p.Asp519Gly)
c.1733A>G (p.Asp578Gly)
c.1511A>G (p.Asp504Gly)
c.485+15742T>C (n.485+15742T>C)
c.1403A>G (p.Asp468Gly)
c.1718A>G (p.Asp573Gly)
c.1673A>G (p.Asp558Gly)
c.1580A>G (p.Asp527Gly)
9g.36219921T>GCA373425653CLTA,GNEc.1826A>C (p.Asp609Ala)
c.1556A>C (p.Asp519Ala)
c.1733A>C (p.Asp578Ala)
c.1511A>C (p.Asp504Ala)
c.485+15742T>G (n.485+15742T>G)
c.1403A>C (p.Asp468Ala)
c.1718A>C (p.Asp573Ala)
c.1673A>C (p.Asp558Ala)
c.1580A>C (p.Asp527Ala)
9g.36219922C>ACA373425655CLTA,GNEc.1825G>T (p.Asp609Tyr)
c.1555G>T (p.Asp519Tyr)
c.1732G>T (p.Asp578Tyr)
c.1510G>T (p.Asp504Tyr)
c.485+15743C>A (n.485+15743C>A)
c.1402G>T (p.Asp468Tyr)
c.1717G>T (p.Asp573Tyr)
c.1672G>T (p.Asp558Tyr)
c.1579G>T (p.Asp527Tyr)
9g.36219922C=CA1846328631CLTA,GNEc.1825G= (p.Asp609=)
c.1555G= (p.Asp519=)
c.1732G= (p.Asp578=)
c.1510G= (p.Asp504=)
c.485+15743C= (n.485+15743C=)
c.1402G= (p.Asp468=)
c.1717G= (p.Asp573=)
c.1672G= (p.Asp558=)
c.1579G= (p.Asp527=)
9g.36219922C>GCA5056432CLTA,GNEc.1825G>C (p.Asp609His)
c.1555G>C (p.Asp519His)
c.1732G>C (p.Asp578His)
c.1510G>C (p.Asp504His)
c.485+15743C>G (n.485+15743C>G)
c.1402G>C (p.Asp468His)
c.1717G>C (p.Asp573His)
c.1672G>C (p.Asp558His)
c.1579G>C (p.Asp527His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219922C>TCA373425654CLTA,GNEc.1825G>A (p.Asp609Asn)
c.1555G>A (p.Asp519Asn)
c.1732G>A (p.Asp578Asn)
c.1510G>A (p.Asp504Asn)
c.485+15743C>T (n.485+15743C>T)
c.1402G>A (p.Asp468Asn)
c.1717G>A (p.Asp573Asn)
c.1672G>A (p.Asp558Asn)
c.1579G>A (p.Asp527Asn)
9g.36219923A>CCA464494973CLTA,GNEc.1824T>G (p.Pro608=)
c.1554T>G (p.Pro518=)
c.1731T>G (p.Pro577=)
c.1509T>G (p.Pro503=)
c.485+15744A>C (n.485+15744A>C)
c.1401T>G (p.Pro467=)
c.1716T>G (p.Pro572=)
c.1671T>G (p.Pro557=)
c.1578T>G (p.Pro526=)
9g.36219923A>GCA464494974CLTA,GNEc.1824T>C (p.Pro608=)
c.1554T>C (p.Pro518=)
c.1731T>C (p.Pro577=)
c.1509T>C (p.Pro503=)
c.485+15744A>G (n.485+15744A>G)
c.1401T>C (p.Pro467=)
c.1716T>C (p.Pro572=)
c.1671T>C (p.Pro557=)
c.1578T>C (p.Pro526=)
9g.36219923A>TCA464494975CLTA,GNEc.1824T>A (p.Pro608=)
c.1554T>A (p.Pro518=)
c.1731T>A (p.Pro577=)
c.1509T>A (p.Pro503=)
c.485+15744A>T (n.485+15744A>T)
c.1401T>A (p.Pro467=)
c.1716T>A (p.Pro572=)
c.1671T>A (p.Pro557=)
c.1578T>A (p.Pro526=)
9g.36219924G>ACA373425656CLTA,GNEc.1823C>T (p.Pro608Leu)
c.1553C>T (p.Pro518Leu)
c.1730C>T (p.Pro577Leu)
c.1508C>T (p.Pro503Leu)
c.485+15745G>A (n.485+15745G>A)
c.1400C>T (p.Pro467Leu)
c.1715C>T (p.Pro572Leu)
c.1670C>T (p.Pro557Leu)
c.1577C>T (p.Pro526Leu)
 ClinVar dbSNP gnomAD v4
9g.36219924G>CCA373425658CLTA,GNEc.1823C>G (p.Pro608Arg)
c.1553C>G (p.Pro518Arg)
c.1730C>G (p.Pro577Arg)
c.1508C>G (p.Pro503Arg)
c.485+15745G>C (n.485+15745G>C)
c.1400C>G (p.Pro467Arg)
c.1715C>G (p.Pro572Arg)
c.1670C>G (p.Pro557Arg)
c.1577C>G (p.Pro526Arg)
 ClinVar dbSNP
9g.36219924G=CA1846328645CLTA,GNEc.1823C= (p.Pro608=)
c.1553C= (p.Pro518=)
c.1730C= (p.Pro577=)
c.1508C= (p.Pro503=)
c.485+15745G= (n.485+15745G=)
c.1400C= (p.Pro467=)
c.1715C= (p.Pro572=)
c.1670C= (p.Pro557=)
c.1577C= (p.Pro526=)
9g.36219924G>TCA373425657CLTA,GNEc.1823C>A (p.Pro608His)
c.1553C>A (p.Pro518His)
c.1730C>A (p.Pro577His)
c.1508C>A (p.Pro503His)
c.485+15745G>T (n.485+15745G>T)
c.1400C>A (p.Pro467His)
c.1715C>A (p.Pro572His)
c.1670C>A (p.Pro557His)
c.1577C>A (p.Pro526His)
9g.36219925G>ACA373425659CLTA,GNEc.1822C>T (p.Pro608Ser)
c.1552C>T (p.Pro518Ser)
c.1729C>T (p.Pro577Ser)
c.1507C>T (p.Pro503Ser)
c.485+15746G>A (n.485+15746G>A)
c.1399C>T (p.Pro467Ser)
c.1714C>T (p.Pro572Ser)
c.1669C>T (p.Pro557Ser)
c.1576C>T (p.Pro526Ser)
 gnomAD v4
9g.36219925G>CCA373425660CLTA,GNEc.1822C>G (p.Pro608Ala)
c.1552C>G (p.Pro518Ala)
c.1729C>G (p.Pro577Ala)
c.1507C>G (p.Pro503Ala)
c.485+15746G>C (n.485+15746G>C)
c.1399C>G (p.Pro467Ala)
c.1714C>G (p.Pro572Ala)
c.1669C>G (p.Pro557Ala)
c.1576C>G (p.Pro526Ala)
9g.36219925G=CA1846328658CLTA,GNEc.1822C= (p.Pro608=)
c.1552C= (p.Pro518=)
c.1729C= (p.Pro577=)
c.1507C= (p.Pro503=)
c.485+15746G= (n.485+15746G=)
c.1399C= (p.Pro467=)
c.1714C= (p.Pro572=)
c.1669C= (p.Pro557=)
c.1576C= (p.Pro526=)
9g.36219925G>TCA10606897CLTA,GNEc.1822C>A (p.Pro608Thr)
c.1552C>A (p.Pro518Thr)
c.1729C>A (p.Pro577Thr)
c.1507C>A (p.Pro503Thr)
c.485+15746G>T (n.485+15746G>T)
c.1399C>A (p.Pro467Thr)
c.1714C>A (p.Pro572Thr)
c.1669C>A (p.Pro557Thr)
c.1576C>A (p.Pro526Thr)
 ClinVar dbSNP
9g.36219926C>ACA464494978CLTA,GNEc.1821G>T (p.Gly607=)
c.1551G>T (p.Gly517=)
c.1728G>T (p.Gly576=)
c.1506G>T (p.Gly502=)
c.485+15747C>A (n.485+15747C>A)
c.1398G>T (p.Gly466=)
c.1713G>T (p.Gly571=)
c.1668G>T (p.Gly556=)
c.1575G>T (p.Gly525=)
9g.36219926C>GCA464494976CLTA,GNEc.1821G>C (p.Gly607=)
c.1551G>C (p.Gly517=)
c.1728G>C (p.Gly576=)
c.1506G>C (p.Gly502=)
c.485+15747C>G (n.485+15747C>G)
c.1398G>C (p.Gly466=)
c.1713G>C (p.Gly571=)
c.1668G>C (p.Gly556=)
c.1575G>C (p.Gly525=)
9g.36219926C>TCA464494977CLTA,GNEc.1821G>A (p.Gly607=)
c.1551G>A (p.Gly517=)
c.1728G>A (p.Gly576=)
c.1506G>A (p.Gly502=)
c.485+15747C>T (n.485+15747C>T)
c.1398G>A (p.Gly466=)
c.1713G>A (p.Gly571=)
c.1668G>A (p.Gly556=)
c.1575G>A (p.Gly525=)
9g.36219927C>ACA373425661CLTA,GNEc.1820G>T (p.Gly607Val)
c.1550G>T (p.Gly517Val)
c.1727G>T (p.Gly576Val)
c.1505G>T (p.Gly502Val)
c.485+15748C>A (n.485+15748C>A)
c.1397G>T (p.Gly466Val)
c.1712G>T (p.Gly571Val)
c.1667G>T (p.Gly556Val)
c.1574G>T (p.Gly525Val)
9g.36219927C=CA1846328669CLTA,GNEc.1820G= (p.Gly607=)
c.1550G= (p.Gly517=)
c.1727G= (p.Gly576=)
c.1505G= (p.Gly502=)
c.485+15748C= (n.485+15748C=)
c.1397G= (p.Gly466=)
c.1712G= (p.Gly571=)
c.1667G= (p.Gly556=)
c.1574G= (p.Gly525=)
9g.36219927C>GCA373425662CLTA,GNEc.1820G>C (p.Gly607Ala)
c.1550G>C (p.Gly517Ala)
c.1727G>C (p.Gly576Ala)
c.1505G>C (p.Gly502Ala)
c.485+15748C>G (n.485+15748C>G)
c.1397G>C (p.Gly466Ala)
c.1712G>C (p.Gly571Ala)
c.1667G>C (p.Gly556Ala)
c.1574G>C (p.Gly525Ala)
9g.36219927C>TCA253681CLTA,GNEc.1820G>A (p.Gly607Glu)
c.1550G>A (p.Gly517Glu)
c.1727G>A (p.Gly576Glu)
c.1505G>A (p.Gly502Glu)
c.485+15748C>T (n.485+15748C>T)
c.1397G>A (p.Gly466Glu)
c.1712G>A (p.Gly571Glu)
c.1667G>A (p.Gly556Glu)
c.1574G>A (p.Gly525Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219928C>ACA373425663CLTA,GNEc.1819G>T (p.Gly607Trp)
c.1549G>T (p.Gly517Trp)
c.1726G>T (p.Gly576Trp)
c.1504G>T (p.Gly502Trp)
c.485+15749C>A (n.485+15749C>A)
c.1396G>T (p.Gly466Trp)
c.1711G>T (p.Gly571Trp)
c.1666G>T (p.Gly556Trp)
c.1573G>T (p.Gly525Trp)
9g.36219928C>GCA373425665CLTA,GNEc.1819G>C (p.Gly607Arg)
c.1549G>C (p.Gly517Arg)
c.1726G>C (p.Gly576Arg)
c.1504G>C (p.Gly502Arg)
c.485+15749C>G (n.485+15749C>G)
c.1396G>C (p.Gly466Arg)
c.1711G>C (p.Gly571Arg)
c.1666G>C (p.Gly556Arg)
c.1573G>C (p.Gly525Arg)
9g.36219928C>TCA373425664CLTA,GNEc.1819G>A (p.Gly607Arg)
c.1549G>A (p.Gly517Arg)
c.1726G>A (p.Gly576Arg)
c.1504G>A (p.Gly502Arg)
c.485+15749C>T (n.485+15749C>T)
c.1396G>A (p.Gly466Arg)
c.1711G>A (p.Gly571Arg)
c.1666G>A (p.Gly556Arg)
c.1573G>A (p.Gly525Arg)
9g.36219929A>CCA373425666CLTA,GNEc.1818T>G (p.Asp606Glu)
c.1548T>G (p.Asp516Glu)
c.1725T>G (p.Asp575Glu)
c.1503T>G (p.Asp501Glu)
c.485+15750A>C (n.485+15750A>C)
c.1395T>G (p.Asp465Glu)
c.1710T>G (p.Asp570Glu)
c.1665T>G (p.Asp555Glu)
c.1572T>G (p.Asp524Glu)
9g.36219929A>GCA464494979CLTA,GNEc.1818T>C (p.Asp606=)
c.1548T>C (p.Asp516=)
c.1725T>C (p.Asp575=)
c.1503T>C (p.Asp501=)
c.485+15750A>G (n.485+15750A>G)
c.1395T>C (p.Asp465=)
c.1710T>C (p.Asp570=)
c.1665T>C (p.Asp555=)
c.1572T>C (p.Asp524=)
9g.36219929A>TCA373425667CLTA,GNEc.1818T>A (p.Asp606Glu)
c.1548T>A (p.Asp516Glu)
c.1725T>A (p.Asp575Glu)
c.1503T>A (p.Asp501Glu)
c.485+15750A>T (n.485+15750A>T)
c.1395T>A (p.Asp465Glu)
c.1710T>A (p.Asp570Glu)
c.1665T>A (p.Asp555Glu)
c.1572T>A (p.Asp524Glu)
9g.36219930T>ACA373425668CLTA,GNEc.1817A>T (p.Asp606Val)
c.1547A>T (p.Asp516Val)
c.1724A>T (p.Asp575Val)
c.1502A>T (p.Asp501Val)
c.485+15751T>A (n.485+15751T>A)
c.1394A>T (p.Asp465Val)
c.1709A>T (p.Asp570Val)
c.1664A>T (p.Asp555Val)
c.1571A>T (p.Asp524Val)
9g.36219930T>CCA373425669CLTA,GNEc.1817A>G (p.Asp606Gly)
c.1547A>G (p.Asp516Gly)
c.1724A>G (p.Asp575Gly)
c.1502A>G (p.Asp501Gly)
c.485+15751T>C (n.485+15751T>C)
c.1394A>G (p.Asp465Gly)
c.1709A>G (p.Asp570Gly)
c.1664A>G (p.Asp555Gly)
c.1571A>G (p.Asp524Gly)
9g.36219930T>GCA373425670CLTA,GNEc.1817A>C (p.Asp606Ala)
c.1547A>C (p.Asp516Ala)
c.1724A>C (p.Asp575Ala)
c.1502A>C (p.Asp501Ala)
c.485+15751T>G (n.485+15751T>G)
c.1394A>C (p.Asp465Ala)
c.1709A>C (p.Asp570Ala)
c.1664A>C (p.Asp555Ala)
c.1571A>C (p.Asp524Ala)
9g.36219931C>ACA373425671CLTA,GNEc.1816G>T (p.Asp606Tyr)
c.1546G>T (p.Asp516Tyr)
c.1723G>T (p.Asp575Tyr)
c.1501G>T (p.Asp501Tyr)
c.485+15752C>A (n.485+15752C>A)
c.1393G>T (p.Asp465Tyr)
c.1708G>T (p.Asp570Tyr)
c.1663G>T (p.Asp555Tyr)
c.1570G>T (p.Asp524Tyr)
9g.36219931C=CA1846328675CLTA,GNEc.1816G= (p.Asp606=)
c.1546G= (p.Asp516=)
c.1723G= (p.Asp575=)
c.1501G= (p.Asp501=)
c.485+15752C= (n.485+15752C=)
c.1393G= (p.Asp465=)
c.1708G= (p.Asp570=)
c.1663G= (p.Asp555=)
c.1570G= (p.Asp524=)
9g.36219931C>GCA192841400CLTA,GNEc.1816G>C (p.Asp606His)
c.1546G>C (p.Asp516His)
c.1723G>C (p.Asp575His)
c.1501G>C (p.Asp501His)
c.485+15752C>G (n.485+15752C>G)
c.1393G>C (p.Asp465His)
c.1708G>C (p.Asp570His)
c.1663G>C (p.Asp555His)
c.1570G>C (p.Asp524His)
 dbSNP gnomAD v4
9g.36219931C>TCA373425672CLTA,GNEc.1816G>A (p.Asp606Asn)
c.1546G>A (p.Asp516Asn)
c.1723G>A (p.Asp575Asn)
c.1501G>A (p.Asp501Asn)
c.485+15752C>T (n.485+15752C>T)
c.1393G>A (p.Asp465Asn)
c.1708G>A (p.Asp570Asn)
c.1663G>A (p.Asp555Asn)
c.1570G>A (p.Asp524Asn)
9g.36219932C>ACA464494980CLTA,GNEc.1815G>T (p.Leu605=)
c.1545G>T (p.Leu515=)
c.1722G>T (p.Leu574=)
c.1500G>T (p.Leu500=)
c.485+15753C>A (n.485+15753C>A)
c.1392G>T (p.Leu464=)
c.1707G>T (p.Leu569=)
c.1662G>T (p.Leu554=)
c.1569G>T (p.Leu523=)
9g.36219932C>GCA464494982CLTA,GNEc.1815G>C (p.Leu605=)
c.1545G>C (p.Leu515=)
c.1722G>C (p.Leu574=)
c.1500G>C (p.Leu500=)
c.485+15753C>G (n.485+15753C>G)
c.1392G>C (p.Leu464=)
c.1707G>C (p.Leu569=)
c.1662G>C (p.Leu554=)
c.1569G>C (p.Leu523=)
9g.36219932C>TCA464494981CLTA,GNEc.1815G>A (p.Leu605=)
c.1545G>A (p.Leu515=)
c.1722G>A (p.Leu574=)
c.1500G>A (p.Leu500=)
c.485+15753C>T (n.485+15753C>T)
c.1392G>A (p.Leu464=)
c.1707G>A (p.Leu569=)
c.1662G>A (p.Leu554=)
c.1569G>A (p.Leu523=)
9g.36219932_36219933delinsCACA1846328682CLTA,GNEc.1814_1815delinsTG (p.Leu605=)
c.1544_1545delinsTG (p.Leu515=)
c.1721_1722delinsTG (p.Leu574=)
c.1499_1500delinsTG (p.Leu500=)
c.485+15753_485+15754delinsCA (n.485+15753_485+15754delinsCA)
c.1391_1392delinsTG (p.Leu464=)
c.1706_1707delinsTG (p.Leu569=)
c.1661_1662delinsTG (p.Leu554=)
c.1568_1569delinsTG (p.Leu523=)
9g.36219933delCA587786883CLTA,GNEc.1814del (p.Leu605ArgfsTer?)
c.1544del (p.Leu515ArgfsTer?)
c.1721del (p.Leu574ArgfsTer?)
c.1499del (p.Leu500ArgfsTer?)
c.485+15754del (n.485+15754del)
c.1391del (p.Leu464ArgfsTer?)
c.1706del (p.Leu569ArgfsTer?)
c.1661del (p.Leu554ArgfsTer?)
c.1568del (p.Leu523ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36219933A>CCA373425673CLTA,GNEc.1814T>G (p.Leu605Arg)
c.1544T>G (p.Leu515Arg)
c.1721T>G (p.Leu574Arg)
c.1499T>G (p.Leu500Arg)
c.485+15754A>C (n.485+15754A>C)
c.1391T>G (p.Leu464Arg)
c.1706T>G (p.Leu569Arg)
c.1661T>G (p.Leu554Arg)
c.1568T>G (p.Leu523Arg)
9g.36219933A>GCA373425674CLTA,GNEc.1814T>C (p.Leu605Pro)
c.1544T>C (p.Leu515Pro)
c.1721T>C (p.Leu574Pro)
c.1499T>C (p.Leu500Pro)
c.485+15754A>G (n.485+15754A>G)
c.1391T>C (p.Leu464Pro)
c.1706T>C (p.Leu569Pro)
c.1661T>C (p.Leu554Pro)
c.1568T>C (p.Leu523Pro)
9g.36219933A>TCA373425675CLTA,GNEc.1814T>A (p.Leu605Gln)
c.1544T>A (p.Leu515Gln)
c.1721T>A (p.Leu574Gln)
c.1499T>A (p.Leu500Gln)
c.485+15754A>T (n.485+15754A>T)
c.1391T>A (p.Leu464Gln)
c.1706T>A (p.Leu569Gln)
c.1661T>A (p.Leu554Gln)
c.1568T>A (p.Leu523Gln)
9g.36219934G>ACA464494983CLTA,GNEc.1813C>T (p.Leu605=)
c.1543C>T (p.Leu515=)
c.1720C>T (p.Leu574=)
c.1498C>T (p.Leu500=)
c.485+15755G>A (n.485+15755G>A)
c.1390C>T (p.Leu464=)
c.1705C>T (p.Leu569=)
c.1660C>T (p.Leu554=)
c.1567C>T (p.Leu523=)
9g.36219934G>CCA373425676CLTA,GNEc.1813C>G (p.Leu605Val)
c.1543C>G (p.Leu515Val)
c.1720C>G (p.Leu574Val)
c.1498C>G (p.Leu500Val)
c.485+15755G>C (n.485+15755G>C)
c.1390C>G (p.Leu464Val)
c.1705C>G (p.Leu569Val)
c.1660C>G (p.Leu554Val)
c.1567C>G (p.Leu523Val)
9g.36219934G>TCA373425677CLTA,GNEc.1813C>A (p.Leu605Met)
c.1543C>A (p.Leu515Met)
c.1720C>A (p.Leu574Met)
c.1498C>A (p.Leu500Met)
c.485+15755G>T (n.485+15755G>T)
c.1390C>A (p.Leu464Met)
c.1705C>A (p.Leu569Met)
c.1660C>A (p.Leu554Met)
c.1567C>A (p.Leu523Met)
9g.36219935A=CA1846328691CLTA,GNEc.1812T= (p.Ser604=)
c.1542T= (p.Ser514=)
c.1719T= (p.Ser573=)
c.1497T= (p.Ser499=)
c.485+15756A= (n.485+15756A=)
c.1389T= (p.Ser463=)
c.1704T= (p.Ser568=)
c.1659T= (p.Ser553=)
c.1566T= (p.Ser522=)
9g.36219935A>CCA464494984CLTA,GNEc.1812T>G (p.Ser604=)
c.1542T>G (p.Ser514=)
c.1719T>G (p.Ser573=)
c.1497T>G (p.Ser499=)
c.485+15756A>C (n.485+15756A>C)
c.1389T>G (p.Ser463=)
c.1704T>G (p.Ser568=)
c.1659T>G (p.Ser553=)
c.1566T>G (p.Ser522=)
9g.36219935A>GCA464494985CLTA,GNEc.1812T>C (p.Ser604=)
c.1542T>C (p.Ser514=)
c.1719T>C (p.Ser573=)
c.1497T>C (p.Ser499=)
c.485+15756A>G (n.485+15756A>G)
c.1389T>C (p.Ser463=)
c.1704T>C (p.Ser568=)
c.1659T>C (p.Ser553=)
c.1566T>C (p.Ser522=)
 dbSNP gnomAD v2 gnomAD v4
9g.36219935A>TCA464494986CLTA,GNEc.1812T>A (p.Ser604=)
c.1542T>A (p.Ser514=)
c.1719T>A (p.Ser573=)
c.1497T>A (p.Ser499=)
c.485+15756A>T (n.485+15756A>T)
c.1389T>A (p.Ser463=)
c.1704T>A (p.Ser568=)
c.1659T>A (p.Ser553=)
c.1566T>A (p.Ser522=)
9g.36219936G>ACA373425680CLTA,GNEc.1811C>T (p.Ser604Phe)
c.1541C>T (p.Ser514Phe)
c.1718C>T (p.Ser573Phe)
c.1496C>T (p.Ser499Phe)
c.485+15757G>A (n.485+15757G>A)
c.1388C>T (p.Ser463Phe)
c.1703C>T (p.Ser568Phe)
c.1658C>T (p.Ser553Phe)
c.1565C>T (p.Ser522Phe)
9g.36219936G>CCA373425678CLTA,GNEc.1811C>G (p.Ser604Cys)
c.1541C>G (p.Ser514Cys)
c.1718C>G (p.Ser573Cys)
c.1496C>G (p.Ser499Cys)
c.485+15757G>C (n.485+15757G>C)
c.1388C>G (p.Ser463Cys)
c.1703C>G (p.Ser568Cys)
c.1658C>G (p.Ser553Cys)
c.1565C>G (p.Ser522Cys)
9g.36219936G>TCA373425679CLTA,GNEc.1811C>A (p.Ser604Tyr)
c.1541C>A (p.Ser514Tyr)
c.1718C>A (p.Ser573Tyr)
c.1496C>A (p.Ser499Tyr)
c.485+15757G>T (n.485+15757G>T)
c.1388C>A (p.Ser463Tyr)
c.1703C>A (p.Ser568Tyr)
c.1658C>A (p.Ser553Tyr)
c.1565C>A (p.Ser522Tyr)

Number of alleles fetched