Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.34517291A=CA1845591532DNAI1c.1825A= (p.Ile609=)
c.329+2552A=
c.613A=
n.401A=
c.1837A= (p.Ile613=)
c.1294A= (p.Ile432=)
c.1579A= (p.Ile527=)
c.1567A= (p.Ile523=)
n.1928A=
9g.34517291A>CCA373266168DNAI1c.1825A>C (p.Ile609Leu)
c.329+2552A>C
c.613A>C
n.401A>C
c.1837A>C (p.Ile613Leu)
c.1294A>C (p.Ile432Leu)
c.1579A>C (p.Ile527Leu)
c.1567A>C (p.Ile523Leu)
n.1928A>C
9g.34517291A>GCA192653536DNAI1c.1825A>G (p.Ile609Val)
c.329+2552A>G
c.613A>G
n.401A>G
c.1837A>G (p.Ile613Val)
c.1294A>G (p.Ile432Val)
c.1579A>G (p.Ile527Val)
c.1567A>G (p.Ile523Val)
n.1928A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517291A>TCA175822DNAI1c.1825A>T (p.Ile609Leu)
c.329+2552A>T
c.613A>T
n.401A>T
c.1837A>T (p.Ile613Leu)
c.1294A>T (p.Ile432Leu)
c.1579A>T (p.Ile527Leu)
c.1567A>T (p.Ile523Leu)
n.1928A>T
 ClinVar dbSNP gnomAD v4
9g.34517292T>ACA373266177DNAI1c.1826T>A (p.Ile609Lys)
c.329+2553T>A
c.614T>A
n.402T>A
c.1838T>A (p.Ile613Lys)
c.1295T>A (p.Ile432Lys)
c.1580T>A (p.Ile527Lys)
c.1568T>A (p.Ile523Lys)
n.1929T>A
9g.34517292T>CCA373266196DNAI1c.1826T>C (p.Ile609Thr)
c.329+2553T>C
c.614T>C
n.402T>C
c.1838T>C (p.Ile613Thr)
c.1295T>C (p.Ile432Thr)
c.1580T>C (p.Ile527Thr)
c.1568T>C (p.Ile523Thr)
n.1929T>C
9g.34517292T>GCA373266200DNAI1c.1826T>G (p.Ile609Arg)
c.329+2553T>G
c.614T>G
n.402T>G
c.1838T>G (p.Ile613Arg)
c.1295T>G (p.Ile432Arg)
c.1580T>G (p.Ile527Arg)
c.1568T>G (p.Ile523Arg)
n.1929T>G
9g.34517293A=CA1845591541DNAI1c.1827A= (p.Ile609=)
c.329+2554A=
c.615A=
n.403A=
c.1839A= (p.Ile613=)
c.1296A= (p.Ile432=)
c.1581A= (p.Ile527=)
c.1569A= (p.Ile523=)
n.1930A=
9g.34517293A>CCA464398324DNAI1c.1827A>C (p.Ile609=)
c.329+2554A>C
c.615A>C
n.403A>C
c.1839A>C (p.Ile613=)
c.1296A>C (p.Ile432=)
c.1581A>C (p.Ile527=)
c.1569A>C (p.Ile523=)
n.1930A>C
9g.34517293A>GCA373266204DNAI1c.1827A>G (p.Ile609Met)
c.329+2554A>G
c.615A>G
n.403A>G
c.1839A>G (p.Ile613Met)
c.1296A>G (p.Ile432Met)
c.1581A>G (p.Ile527Met)
c.1569A>G (p.Ile523Met)
n.1930A>G
 dbSNP gnomAD v2 gnomAD v4
9g.34517293A>TCA464398325DNAI1c.1827A>T (p.Ile609=)
c.329+2554A>T
c.615A>T
n.403A>T
c.1839A>T (p.Ile613=)
c.1296A>T (p.Ile432=)
c.1581A>T (p.Ile527=)
c.1569A>T (p.Ile523=)
n.1930A>T
9g.34517294T>ACA373266209DNAI1c.1828T>A (p.Phe610Ile)
c.329+2555T>A
c.616T>A
n.404T>A
c.1840T>A (p.Phe614Ile)
c.1297T>A (p.Phe433Ile)
c.1582T>A (p.Phe528Ile)
c.1570T>A (p.Phe524Ile)
n.1931T>A
9g.34517294T>CCA373266212DNAI1c.1828T>C (p.Phe610Leu)
c.329+2555T>C
c.616T>C
n.404T>C
c.1840T>C (p.Phe614Leu)
c.1297T>C (p.Phe433Leu)
c.1582T>C (p.Phe528Leu)
c.1570T>C (p.Phe524Leu)
n.1931T>C
9g.34517294T>GCA373266215DNAI1c.1828T>G (p.Phe610Val)
c.329+2555T>G
c.616T>G
n.404T>G
c.1840T>G (p.Phe614Val)
c.1297T>G (p.Phe433Val)
c.1582T>G (p.Phe528Val)
c.1570T>G (p.Phe524Val)
n.1931T>G
9g.34517295T>ACA373266223DNAI1c.1829T>A (p.Phe610Tyr)
c.329+2556T>A
c.617T>A
n.405T>A
c.1841T>A (p.Phe614Tyr)
c.1298T>A (p.Phe433Tyr)
c.1583T>A (p.Phe528Tyr)
c.1571T>A (p.Phe524Tyr)
n.1932T>A
9g.34517295T>CCA373266226DNAI1c.1829T>C (p.Phe610Ser)
c.329+2556T>C
c.617T>C
n.405T>C
c.1841T>C (p.Phe614Ser)
c.1298T>C (p.Phe433Ser)
c.1583T>C (p.Phe528Ser)
c.1571T>C (p.Phe524Ser)
n.1932T>C
9g.34517295T>GCA373266234DNAI1c.1829T>G (p.Phe610Cys)
c.329+2556T>G
c.617T>G
n.405T>G
c.1841T>G (p.Phe614Cys)
c.1298T>G (p.Phe433Cys)
c.1583T>G (p.Phe528Cys)
c.1571T>G (p.Phe524Cys)
n.1932T>G
9g.34517296T>ACA373266237DNAI1c.1830T>A (p.Phe610Leu)
c.329+2557T>A
c.618T>A
n.406T>A
c.1842T>A (p.Phe614Leu)
c.1299T>A (p.Phe433Leu)
c.1584T>A (p.Phe528Leu)
c.1572T>A (p.Phe524Leu)
n.1933T>A
9g.34517296T>CCA464398326DNAI1c.1830T>C (p.Phe610=)
c.329+2557T>C
c.618T>C
n.406T>C
c.1842T>C (p.Phe614=)
c.1299T>C (p.Phe433=)
c.1584T>C (p.Phe528=)
c.1572T>C (p.Phe524=)
n.1933T>C
9g.34517296T>GCA373266236DNAI1c.1830T>G (p.Phe610Leu)
c.329+2557T>G
c.618T>G
n.406T>G
c.1842T>G (p.Phe614Leu)
c.1299T>G (p.Phe433Leu)
c.1584T>G (p.Phe528Leu)
c.1572T>G (p.Phe524Leu)
n.1933T>G
9g.34517297G>ACA373266241DNAI1c.1831G>A (p.Asp611Asn)
c.329+2558G>A
c.619G>A
n.407G>A
c.1843G>A (p.Asp615Asn)
c.1300G>A (p.Asp434Asn)
c.1585G>A (p.Asp529Asn)
c.1573G>A (p.Asp525Asn)
n.1934G>A
9g.34517297G>CCA373266244DNAI1c.1831G>C (p.Asp611His)
c.329+2558G>C
c.619G>C
n.407G>C
c.1843G>C (p.Asp615His)
c.1300G>C (p.Asp434His)
c.1585G>C (p.Asp529His)
c.1573G>C (p.Asp525His)
n.1934G>C
9g.34517297G>TCA373266243DNAI1c.1831G>T (p.Asp611Tyr)
c.329+2558G>T
c.619G>T
n.407G>T
c.1843G>T (p.Asp615Tyr)
c.1300G>T (p.Asp434Tyr)
c.1585G>T (p.Asp529Tyr)
c.1573G>T (p.Asp525Tyr)
n.1934G>T
 gnomAD v4 COSMIC
9g.34517298A>CCA373266248DNAI1c.1832A>C (p.Asp611Ala)
c.329+2559A>C
c.620A>C
n.408A>C
c.1844A>C (p.Asp615Ala)
c.1301A>C (p.Asp434Ala)
c.1586A>C (p.Asp529Ala)
c.1574A>C (p.Asp525Ala)
n.1935A>C
9g.34517298A>GCA373266249DNAI1c.1832A>G (p.Asp611Gly)
c.329+2559A>G
c.620A>G
n.408A>G
c.1844A>G (p.Asp615Gly)
c.1301A>G (p.Asp434Gly)
c.1586A>G (p.Asp529Gly)
c.1574A>G (p.Asp525Gly)
n.1935A>G
9g.34517298A>TCA373266250DNAI1c.1832A>T (p.Asp611Val)
c.329+2559A>T
c.620A>T
n.408A>T
c.1844A>T (p.Asp615Val)
c.1301A>T (p.Asp434Val)
c.1586A>T (p.Asp529Val)
c.1574A>T (p.Asp525Val)
n.1935A>T
9g.34517299C>ACA373266252DNAI1c.1833C>A (p.Asp611Glu)
c.329+2560C>A
c.621C>A
n.409C>A
c.1845C>A (p.Asp615Glu)
c.1302C>A (p.Asp434Glu)
c.1587C>A (p.Asp529Glu)
c.1575C>A (p.Asp525Glu)
n.1936C>A
9g.34517299C>GCA373266255DNAI1c.1833C>G (p.Asp611Glu)
c.329+2560C>G
c.621C>G
n.409C>G
c.1845C>G (p.Asp615Glu)
c.1302C>G (p.Asp434Glu)
c.1587C>G (p.Asp529Glu)
c.1575C>G (p.Asp525Glu)
n.1936C>G
9g.34517299C>TCA464398327DNAI1c.1833C>T (p.Asp611=)
c.329+2560C>T
c.621C>T
n.409C>T
c.1845C>T (p.Asp615=)
c.1302C>T (p.Asp434=)
c.1587C>T (p.Asp529=)
c.1575C>T (p.Asp525=)
n.1936C>T
9g.34517300T>ACA373266260DNAI1c.1834T>A (p.Leu612Ile)
c.329+2561T>A
c.622T>A
n.410T>A
c.1846T>A (p.Leu616Ile)
c.1303T>A (p.Leu435Ile)
c.1588T>A (p.Leu530Ile)
c.1576T>A (p.Leu526Ile)
n.1937T>A
9g.34517300T>CCA464398328DNAI1c.1834T>C (p.Leu612=)
c.329+2561T>C
c.622T>C
n.410T>C
c.1846T>C (p.Leu616=)
c.1303T>C (p.Leu435=)
c.1588T>C (p.Leu530=)
c.1576T>C (p.Leu526=)
n.1937T>C
9g.34517300T>GCA373266271DNAI1c.1834T>G (p.Leu612Val)
c.329+2561T>G
c.622T>G
n.410T>G
c.1846T>G (p.Leu616Val)
c.1303T>G (p.Leu435Val)
c.1588T>G (p.Leu530Val)
c.1576T>G (p.Leu526Val)
n.1937T>G
9g.34517301T>ACA373266272DNAI1c.1835T>A (p.Leu612Ter)
c.329+2562T>A
c.623T>A
n.411T>A
c.1847T>A (p.Leu616Ter)
c.1304T>A (p.Leu435Ter)
c.1589T>A (p.Leu530Ter)
c.1577T>A (p.Leu526Ter)
n.1938T>A
9g.34517301T>CCA373266273DNAI1c.1835T>C (p.Leu612Ser)
c.329+2562T>C
c.623T>C
n.411T>C
c.1847T>C (p.Leu616Ser)
c.1304T>C (p.Leu435Ser)
c.1589T>C (p.Leu530Ser)
c.1577T>C (p.Leu526Ser)
n.1938T>C
9g.34517301T>GCA373266276DNAI1c.1835T>G (p.Leu612Ter)
c.329+2562T>G
c.623T>G
n.411T>G
c.1847T>G (p.Leu616Ter)
c.1304T>G (p.Leu435Ter)
c.1589T>G (p.Leu530Ter)
c.1577T>G (p.Leu526Ter)
n.1938T>G
9g.34517302A=CA1845591545DNAI1c.1836A= (p.Leu612=)
c.329+2563A=
c.624A=
n.412A=
c.1848A= (p.Leu616=)
c.1305A= (p.Leu435=)
c.1590A= (p.Leu530=)
c.1578A= (p.Leu526=)
n.1939A=
9g.34517302A>CCA373266277DNAI1c.1836A>C (p.Leu612Phe)
c.329+2563A>C
c.624A>C
n.412A>C
c.1848A>C (p.Leu616Phe)
c.1305A>C (p.Leu435Phe)
c.1590A>C (p.Leu530Phe)
c.1578A>C (p.Leu526Phe)
n.1939A>C
9g.34517302A>GCA464398329DNAI1c.1836A>G (p.Leu612=)
c.329+2563A>G
c.624A>G
n.412A>G
c.1848A>G (p.Leu616=)
c.1305A>G (p.Leu435=)
c.1590A>G (p.Leu530=)
c.1578A>G (p.Leu526=)
n.1939A>G
9g.34517302A>TCA373266280DNAI1c.1836A>T (p.Leu612Phe)
c.329+2563A>T
c.624A>T
n.412A>T
c.1848A>T (p.Leu616Phe)
c.1305A>T (p.Leu435Phe)
c.1590A>T (p.Leu530Phe)
c.1578A>T (p.Leu526Phe)
n.1939A>T
9g.34517303G>ACA373266291DNAI1c.1837G>A (p.Ala613Thr)
c.329+2564G>A
c.625G>A
n.413G>A
c.1849G>A (p.Ala617Thr)
c.1306G>A (p.Ala436Thr)
c.1591G>A (p.Ala531Thr)
c.1579G>A (p.Ala527Thr)
n.1940G>A
9g.34517303G>CCA373266281DNAI1c.1837G>C (p.Ala613Pro)
c.329+2564G>C
c.625G>C
n.413G>C
c.1849G>C (p.Ala617Pro)
c.1306G>C (p.Ala436Pro)
c.1591G>C (p.Ala531Pro)
c.1579G>C (p.Ala527Pro)
n.1940G>C
9g.34517303G>TCA373266283DNAI1c.1837G>T (p.Ala613Ser)
c.329+2564G>T
c.625G>T
n.413G>T
c.1849G>T (p.Ala617Ser)
c.1306G>T (p.Ala436Ser)
c.1591G>T (p.Ala531Ser)
c.1579G>T (p.Ala527Ser)
n.1940G>T
 gnomAD v4
9g.34517309_34517326dupCA863462732DNAI1c.1843_1860dup (p.Ile620_Cys621insAsnLysTyrGluAlaIle)
c.329+2570_329+2587dup
c.631_648dup
n.419_436dup
c.1855_1872dup (p.Ile624_Cys625insAsnLysTyrGluAlaIle)
c.1312_1329dup (p.Ile443_Cys444insAsnLysTyrGluAlaIle)
c.1597_1614dup (p.Ile538_Cys539insAsnLysTyrGluAlaIle)
c.1585_1602dup (p.Ile534_Cys535insAsnLysTyrGluAlaIle)
n.1946_1963dup
 dbSNP gnomAD v3 gnomAD v4
9g.34517304C>ACA373266299DNAI1c.1838C>A (p.Ala613Asp)
c.329+2565C>A
c.626C>A
n.414C>A
c.1850C>A (p.Ala617Asp)
c.1307C>A (p.Ala436Asp)
c.1592C>A (p.Ala531Asp)
c.1580C>A (p.Ala527Asp)
n.1941C>A
9g.34517304C>GCA373266301DNAI1c.1838C>G (p.Ala613Gly)
c.329+2565C>G
c.626C>G
n.414C>G
c.1850C>G (p.Ala617Gly)
c.1307C>G (p.Ala436Gly)
c.1592C>G (p.Ala531Gly)
c.1580C>G (p.Ala527Gly)
n.1941C>G
9g.34517304C>TCA373266304DNAI1c.1838C>T (p.Ala613Val)
c.329+2565C>T
c.626C>T
n.414C>T
c.1850C>T (p.Ala617Val)
c.1307C>T (p.Ala436Val)
c.1592C>T (p.Ala531Val)
c.1580C>T (p.Ala527Val)
n.1941C>T
9g.34517305C>ACA464398330DNAI1c.1839C>A (p.Ala613=)
c.329+2566C>A
c.627C>A
n.415C>A
c.1851C>A (p.Ala617=)
c.1308C>A (p.Ala436=)
c.1593C>A (p.Ala531=)
c.1581C>A (p.Ala527=)
n.1942C>A
9g.34517305C=CA1845591571DNAI1c.1839C= (p.Ala613=)
c.329+2566C=
c.627C=
n.415C=
c.1851C= (p.Ala617=)
c.1308C= (p.Ala436=)
c.1593C= (p.Ala531=)
c.1581C= (p.Ala527=)
n.1942C=
9g.34517305C>GCA464398331DNAI1c.1839C>G (p.Ala613=)
c.329+2566C>G
c.627C>G
n.415C>G
c.1851C>G (p.Ala617=)
c.1308C>G (p.Ala436=)
c.1593C>G (p.Ala531=)
c.1581C>G (p.Ala527=)
n.1942C>G
9g.34517305C>TCA464398332DNAI1c.1839C>T (p.Ala613=)
c.329+2566C>T
c.627C>T
n.415C>T
c.1851C>T (p.Ala617=)
c.1308C>T (p.Ala436=)
c.1593C>T (p.Ala531=)
c.1581C>T (p.Ala527=)
n.1942C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517306A>CCA373266305DNAI1c.1840A>C (p.Ile614Leu)
c.329+2567A>C
c.628A>C
n.416A>C
c.1852A>C (p.Ile618Leu)
c.1309A>C (p.Ile437Leu)
c.1594A>C (p.Ile532Leu)
c.1582A>C (p.Ile528Leu)
n.1943A>C
 gnomAD v4
9g.34517306A>GCA373266306DNAI1c.1840A>G (p.Ile614Val)
c.329+2567A>G
c.628A>G
n.416A>G
c.1852A>G (p.Ile618Val)
c.1309A>G (p.Ile437Val)
c.1594A>G (p.Ile532Val)
c.1582A>G (p.Ile528Val)
n.1943A>G
9g.34517306A>TCA373266307DNAI1c.1840A>T (p.Ile614Phe)
c.329+2567A>T
c.628A>T
n.416A>T
c.1852A>T (p.Ile618Phe)
c.1309A>T (p.Ile437Phe)
c.1594A>T (p.Ile532Phe)
c.1582A>T (p.Ile528Phe)
n.1943A>T
9g.34517307T>ACA373266312DNAI1c.1841T>A (p.Ile614Asn)
c.329+2568T>A
c.629T>A
n.417T>A
c.1853T>A (p.Ile618Asn)
c.1310T>A (p.Ile437Asn)
c.1595T>A (p.Ile532Asn)
c.1583T>A (p.Ile528Asn)
n.1944T>A
9g.34517307T>CCA373266323DNAI1c.1841T>C (p.Ile614Thr)
c.329+2568T>C
c.629T>C
n.417T>C
c.1853T>C (p.Ile618Thr)
c.1310T>C (p.Ile437Thr)
c.1595T>C (p.Ile532Thr)
c.1583T>C (p.Ile528Thr)
n.1944T>C
9g.34517307T>GCA373266324DNAI1c.1841T>G (p.Ile614Ser)
c.329+2568T>G
c.629T>G
n.417T>G
c.1853T>G (p.Ile618Ser)
c.1310T>G (p.Ile437Ser)
c.1595T>G (p.Ile532Ser)
c.1583T>G (p.Ile528Ser)
n.1944T>G
9g.34517308C>ACA464398333DNAI1c.1842C>A (p.Ile614=)
c.329+2569C>A
c.630C>A
n.418C>A
c.1854C>A (p.Ile618=)
c.1311C>A (p.Ile437=)
c.1596C>A (p.Ile532=)
c.1584C>A (p.Ile528=)
n.1945C>A
9g.34517308C=CA1845591580DNAI1c.1842C= (p.Ile614=)
c.329+2569C=
c.630C=
n.418C=
c.1854C= (p.Ile618=)
c.1311C= (p.Ile437=)
c.1596C= (p.Ile532=)
c.1584C= (p.Ile528=)
n.1945C=
9g.34517308C>GCA373266329DNAI1c.1842C>G (p.Ile614Met)
c.329+2569C>G
c.630C>G
n.418C>G
c.1854C>G (p.Ile618Met)
c.1311C>G (p.Ile437Met)
c.1596C>G (p.Ile532Met)
c.1584C>G (p.Ile528Met)
n.1945C>G
9g.34517308C>TCA5034563DNAI1c.1842C>T (p.Ile614=)
c.329+2569C>T
c.630C>T
n.418C>T
c.1854C>T (p.Ile618=)
c.1311C>T (p.Ile437=)
c.1596C>T (p.Ile532=)
c.1584C>T (p.Ile528=)
n.1945C>T
 dbSNP ExAC gnomAD v4
9g.34517309A>CCA373266358DNAI1c.1843A>C (p.Asn615His)
c.329+2570A>C
c.631A>C
n.419A>C
c.1855A>C (p.Asn619His)
c.1312A>C (p.Asn438His)
c.1597A>C (p.Asn533His)
c.1585A>C (p.Asn529His)
n.1946A>C
9g.34517309A>GCA373266362DNAI1c.1843A>G (p.Asn615Asp)
c.329+2570A>G
c.631A>G
n.419A>G
c.1855A>G (p.Asn619Asp)
c.1312A>G (p.Asn438Asp)
c.1597A>G (p.Asn533Asp)
c.1585A>G (p.Asn529Asp)
n.1946A>G
9g.34517309A>TCA373266343DNAI1c.1843A>T (p.Asn615Tyr)
c.329+2570A>T
c.631A>T
n.419A>T
c.1855A>T (p.Asn619Tyr)
c.1312A>T (p.Asn438Tyr)
c.1597A>T (p.Asn533Tyr)
c.1585A>T (p.Asn529Tyr)
n.1946A>T
9g.34517310A=CA1845591589DNAI1c.1844A= (p.Asn615=)
c.329+2571A=
c.632A=
n.420A=
c.1856A= (p.Asn619=)
c.1313A= (p.Asn438=)
c.1598A= (p.Asn533=)
c.1586A= (p.Asn529=)
n.1947A=
9g.34517310A>CCA373266376DNAI1c.1844A>C (p.Asn615Thr)
c.329+2571A>C
c.632A>C
n.420A>C
c.1856A>C (p.Asn619Thr)
c.1313A>C (p.Asn438Thr)
c.1598A>C (p.Asn533Thr)
c.1586A>C (p.Asn529Thr)
n.1947A>C
9g.34517310A>GCA373266382DNAI1c.1844A>G (p.Asn615Ser)
c.329+2571A>G
c.632A>G
n.420A>G
c.1856A>G (p.Asn619Ser)
c.1313A>G (p.Asn438Ser)
c.1598A>G (p.Asn533Ser)
c.1586A>G (p.Asn529Ser)
n.1947A>G
 dbSNP gnomAD v2 gnomAD v4
9g.34517310A>TCA373266390DNAI1c.1844A>T (p.Asn615Ile)
c.329+2571A>T
c.632A>T
n.420A>T
c.1856A>T (p.Asn619Ile)
c.1313A>T (p.Asn438Ile)
c.1598A>T (p.Asn533Ile)
c.1586A>T (p.Asn529Ile)
n.1947A>T
9g.34517311C>ACA373266402DNAI1c.1845C>A (p.Asn615Lys)
c.329+2572C>A
c.633C>A
n.421C>A
c.1857C>A (p.Asn619Lys)
c.1314C>A (p.Asn438Lys)
c.1599C>A (p.Asn533Lys)
c.1587C>A (p.Asn529Lys)
n.1948C>A
 gnomAD v4
9g.34517311C>GCA373266406DNAI1c.1845C>G (p.Asn615Lys)
c.329+2572C>G
c.633C>G
n.421C>G
c.1857C>G (p.Asn619Lys)
c.1314C>G (p.Asn438Lys)
c.1599C>G (p.Asn533Lys)
c.1587C>G (p.Asn529Lys)
n.1948C>G
9g.34517311C>TCA464398334DNAI1c.1845C>T (p.Asn615=)
c.329+2572C>T
c.633C>T
n.421C>T
c.1857C>T (p.Asn619=)
c.1314C>T (p.Asn438=)
c.1599C>T (p.Asn533=)
c.1587C>T (p.Asn529=)
n.1948C>T
 gnomAD v4
9g.34517312A>CCA373266410DNAI1c.1846A>C (p.Lys616Gln)
c.329+2573A>C
c.634A>C
n.422A>C
c.1858A>C (p.Lys620Gln)
c.1315A>C (p.Lys439Gln)
c.1600A>C (p.Lys534Gln)
c.1588A>C (p.Lys530Gln)
n.1949A>C
9g.34517312A>GCA373266416DNAI1c.1846A>G (p.Lys616Glu)
c.329+2573A>G
c.634A>G
n.422A>G
c.1858A>G (p.Lys620Glu)
c.1315A>G (p.Lys439Glu)
c.1600A>G (p.Lys534Glu)
c.1588A>G (p.Lys530Glu)
n.1949A>G
9g.34517312A>TCA373266419DNAI1c.1846A>T (p.Lys616Ter)
c.329+2573A>T
c.634A>T
n.422A>T
c.1858A>T (p.Lys620Ter)
c.1315A>T (p.Lys439Ter)
c.1600A>T (p.Lys534Ter)
c.1588A>T (p.Lys530Ter)
n.1949A>T
9g.34517313A>CCA373266421DNAI1c.1847A>C (p.Lys616Thr)
c.329+2574A>C
c.635A>C
n.423A>C
c.1859A>C (p.Lys620Thr)
c.1316A>C (p.Lys439Thr)
c.1601A>C (p.Lys534Thr)
c.1589A>C (p.Lys530Thr)
n.1950A>C
9g.34517313A>GCA373266422DNAI1c.1847A>G (p.Lys616Arg)
c.329+2574A>G
c.635A>G
n.423A>G
c.1859A>G (p.Lys620Arg)
c.1316A>G (p.Lys439Arg)
c.1601A>G (p.Lys534Arg)
c.1589A>G (p.Lys530Arg)
n.1950A>G
9g.34517313A>TCA373266423DNAI1c.1847A>T (p.Lys616Met)
c.329+2574A>T
c.635A>T
n.423A>T
c.1859A>T (p.Lys620Met)
c.1316A>T (p.Lys439Met)
c.1601A>T (p.Lys534Met)
c.1589A>T (p.Lys530Met)
n.1950A>T
9g.34517314G>ACA464398335DNAI1c.1848G>A (p.Lys616=)
c.329+2575G>A
c.636G>A
n.424G>A
c.1860G>A (p.Lys620=)
c.1317G>A (p.Lys439=)
c.1602G>A (p.Lys534=)
c.1590G>A (p.Lys530=)
n.1951G>A
 gnomAD v4
9g.34517314G>CCA373266430DNAI1c.1848G>C (p.Lys616Asn)
c.329+2575G>C
c.636G>C
n.424G>C
c.1860G>C (p.Lys620Asn)
c.1317G>C (p.Lys439Asn)
c.1602G>C (p.Lys534Asn)
c.1590G>C (p.Lys530Asn)
n.1951G>C
9g.34517314G>TCA373266431DNAI1c.1848G>T (p.Lys616Asn)
c.329+2575G>T
c.636G>T
n.424G>T
c.1860G>T (p.Lys620Asn)
c.1317G>T (p.Lys439Asn)
c.1602G>T (p.Lys534Asn)
c.1590G>T (p.Lys530Asn)
n.1951G>T
 COSMIC
9g.34517315T>ACA373266433DNAI1c.1849T>A (p.Tyr617Asn)
c.329+2576T>A
c.637T>A
n.425T>A
c.1861T>A (p.Tyr621Asn)
c.1318T>A (p.Tyr440Asn)
c.1603T>A (p.Tyr535Asn)
c.1591T>A (p.Tyr531Asn)
n.1952T>A
9g.34517315T>CCA373266446DNAI1c.1849T>C (p.Tyr617His)
c.329+2576T>C
c.637T>C
n.425T>C
c.1861T>C (p.Tyr621His)
c.1318T>C (p.Tyr440His)
c.1603T>C (p.Tyr535His)
c.1591T>C (p.Tyr531His)
n.1952T>C
9g.34517315T>GCA373266432DNAI1c.1849T>G (p.Tyr617Asp)
c.329+2576T>G
c.637T>G
n.425T>G
c.1861T>G (p.Tyr621Asp)
c.1318T>G (p.Tyr440Asp)
c.1603T>G (p.Tyr535Asp)
c.1591T>G (p.Tyr531Asp)
n.1952T>G
9g.34517316A>CCA373266449DNAI1c.1850A>C (p.Tyr617Ser)
c.329+2577A>C
c.638A>C
n.426A>C
c.1862A>C (p.Tyr621Ser)
c.1319A>C (p.Tyr440Ser)
c.1604A>C (p.Tyr535Ser)
c.1592A>C (p.Tyr531Ser)
n.1953A>C
9g.34517316A>GCA373266450DNAI1c.1850A>G (p.Tyr617Cys)
c.329+2577A>G
c.638A>G
n.426A>G
c.1862A>G (p.Tyr621Cys)
c.1319A>G (p.Tyr440Cys)
c.1604A>G (p.Tyr535Cys)
c.1592A>G (p.Tyr531Cys)
n.1953A>G
9g.34517316A>TCA373266452DNAI1c.1850A>T (p.Tyr617Phe)
c.329+2577A>T
c.638A>T
n.426A>T
c.1862A>T (p.Tyr621Phe)
c.1319A>T (p.Tyr440Phe)
c.1604A>T (p.Tyr535Phe)
c.1592A>T (p.Tyr531Phe)
n.1953A>T
9g.34517317T>ACA373266454DNAI1c.1851T>A (p.Tyr617Ter)
c.329+2578T>A
c.639T>A
n.427T>A
c.1863T>A (p.Tyr621Ter)
c.1320T>A (p.Tyr440Ter)
c.1605T>A (p.Tyr535Ter)
c.1593T>A (p.Tyr531Ter)
n.1954T>A
9g.34517317T>CCA464398336DNAI1c.1851T>C (p.Tyr617=)
c.329+2578T>C
c.639T>C
n.427T>C
c.1863T>C (p.Tyr621=)
c.1320T>C (p.Tyr440=)
c.1605T>C (p.Tyr535=)
c.1593T>C (p.Tyr531=)
n.1954T>C
 dbSNP
9g.34517317T>GCA373266455DNAI1c.1851T>G (p.Tyr617Ter)
c.329+2578T>G
c.639T>G
n.427T>G
c.1863T>G (p.Tyr621Ter)
c.1320T>G (p.Tyr440Ter)
c.1605T>G (p.Tyr535Ter)
c.1593T>G (p.Tyr531Ter)
n.1954T>G
9g.34517317T=CA1845591600DNAI1c.1851T= (p.Tyr617=)
c.329+2578T=
c.639T=
n.427T=
c.1863T= (p.Tyr621=)
c.1320T= (p.Tyr440=)
c.1605T= (p.Tyr535=)
c.1593T= (p.Tyr531=)
n.1954T=
9g.34517318G>ACA373266462DNAI1c.1852G>A (p.Glu618Lys)
c.329+2579G>A
c.640G>A
n.428G>A
c.1864G>A (p.Glu622Lys)
c.1321G>A (p.Glu441Lys)
c.1606G>A (p.Glu536Lys)
c.1594G>A (p.Glu532Lys)
n.1955G>A
9g.34517318G>CCA373266460DNAI1c.1852G>C (p.Glu618Gln)
c.329+2579G>C
c.640G>C
n.428G>C
c.1864G>C (p.Glu622Gln)
c.1321G>C (p.Glu441Gln)
c.1606G>C (p.Glu536Gln)
c.1594G>C (p.Glu532Gln)
n.1955G>C
9g.34517318G>TCA373266456DNAI1c.1852G>T (p.Glu618Ter)
c.329+2579G>T
c.640G>T
n.428G>T
c.1864G>T (p.Glu622Ter)
c.1321G>T (p.Glu441Ter)
c.1606G>T (p.Glu536Ter)
c.1594G>T (p.Glu532Ter)
n.1955G>T
9g.34517319A>CCA373266465DNAI1c.1853A>C (p.Glu618Ala)
c.329+2580A>C
c.641A>C
n.429A>C
c.1865A>C (p.Glu622Ala)
c.1322A>C (p.Glu441Ala)
c.1607A>C (p.Glu536Ala)
c.1595A>C (p.Glu532Ala)
n.1956A>C
9g.34517319A>GCA373266468DNAI1c.1853A>G (p.Glu618Gly)
c.329+2580A>G
c.641A>G
n.429A>G
c.1865A>G (p.Glu622Gly)
c.1322A>G (p.Glu441Gly)
c.1607A>G (p.Glu536Gly)
c.1595A>G (p.Glu532Gly)
n.1956A>G
9g.34517319A>TCA373266471DNAI1c.1853A>T (p.Glu618Val)
c.329+2580A>T
c.641A>T
n.429A>T
c.1865A>T (p.Glu622Val)
c.1322A>T (p.Glu441Val)
c.1607A>T (p.Glu536Val)
c.1595A>T (p.Glu532Val)
n.1956A>T
9g.34517320G>ACA5034565DNAI1c.1854G>A (p.Glu618=)
c.329+2581G>A
c.642G>A
n.430G>A
c.1866G>A (p.Glu622=)
c.1323G>A (p.Glu441=)
c.1608G>A (p.Glu536=)
c.1596G>A (p.Glu532=)
n.1957G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517320G>CCA5034564DNAI1c.1854G>C (p.Glu618Asp)
c.329+2581G>C
c.642G>C
n.430G>C
c.1866G>C (p.Glu622Asp)
c.1323G>C (p.Glu441Asp)
c.1608G>C (p.Glu536Asp)
c.1596G>C (p.Glu532Asp)
n.1957G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517320G=CA1845591606DNAI1c.1854G= (p.Glu618=)
c.329+2581G=
c.642G=
n.430G=
c.1866G= (p.Glu622=)
c.1323G= (p.Glu441=)
c.1608G= (p.Glu536=)
c.1596G= (p.Glu532=)
n.1957G=
9g.34517320G>TCA373266475DNAI1c.1854G>T (p.Glu618Asp)
c.329+2581G>T
c.642G>T
n.430G>T
c.1866G>T (p.Glu622Asp)
c.1323G>T (p.Glu441Asp)
c.1608G>T (p.Glu536Asp)
c.1596G>T (p.Glu532Asp)
n.1957G>T
9g.34517321G>ACA373266481DNAI1c.1855G>A (p.Ala619Thr)
c.329+2582G>A
c.643G>A
n.431G>A
c.1867G>A (p.Ala623Thr)
c.1324G>A (p.Ala442Thr)
c.1609G>A (p.Ala537Thr)
c.1597G>A (p.Ala533Thr)
n.1958G>A
 COSMIC
9g.34517321G>CCA373266477DNAI1c.1855G>C (p.Ala619Pro)
c.329+2582G>C
c.643G>C
n.431G>C
c.1867G>C (p.Ala623Pro)
c.1324G>C (p.Ala442Pro)
c.1609G>C (p.Ala537Pro)
c.1597G>C (p.Ala533Pro)
n.1958G>C
9g.34517321G>TCA373266476DNAI1c.1855G>T (p.Ala619Ser)
c.329+2582G>T
c.643G>T
n.431G>T
c.1867G>T (p.Ala623Ser)
c.1324G>T (p.Ala442Ser)
c.1609G>T (p.Ala537Ser)
c.1597G>T (p.Ala533Ser)
n.1958G>T
9g.34517322C>ACA373266487DNAI1c.1856C>A (p.Ala619Asp)
c.329+2583C>A
c.644C>A
n.432C>A
c.1868C>A (p.Ala623Asp)
c.1325C>A (p.Ala442Asp)
c.1610C>A (p.Ala537Asp)
c.1598C>A (p.Ala533Asp)
n.1959C>A
9g.34517322C>GCA373266494DNAI1c.1856C>G (p.Ala619Gly)
c.329+2583C>G
c.644C>G
n.432C>G
c.1868C>G (p.Ala623Gly)
c.1325C>G (p.Ala442Gly)
c.1610C>G (p.Ala537Gly)
c.1598C>G (p.Ala533Gly)
n.1959C>G
9g.34517322C>TCA373266492DNAI1c.1856C>T (p.Ala619Val)
c.329+2583C>T
c.644C>T
n.432C>T
c.1868C>T (p.Ala623Val)
c.1325C>T (p.Ala442Val)
c.1610C>T (p.Ala537Val)
c.1598C>T (p.Ala533Val)
n.1959C>T
9g.34517323C>ACA464398337DNAI1c.1857C>A (p.Ala619=)
c.329+2584C>A
c.645C>A
n.433C>A
c.1869C>A (p.Ala623=)
c.1326C>A (p.Ala442=)
c.1611C>A (p.Ala537=)
c.1599C>A (p.Ala533=)
n.1960C>A
9g.34517323C>GCA464398338DNAI1c.1857C>G (p.Ala619=)
c.329+2584C>G
c.645C>G
n.433C>G
c.1869C>G (p.Ala623=)
c.1326C>G (p.Ala442=)
c.1611C>G (p.Ala537=)
c.1599C>G (p.Ala533=)
n.1960C>G
9g.34517323C>TCA464398339DNAI1c.1857C>T (p.Ala619=)
c.329+2584C>T
c.645C>T
n.433C>T
c.1869C>T (p.Ala623=)
c.1326C>T (p.Ala442=)
c.1611C>T (p.Ala537=)
c.1599C>T (p.Ala533=)
n.1960C>T
9g.34517324A>CCA373266498DNAI1c.1858A>C (p.Ile620Leu)
c.329+2585A>C
c.646A>C
n.434A>C
c.1870A>C (p.Ile624Leu)
c.1327A>C (p.Ile443Leu)
c.1612A>C (p.Ile538Leu)
c.1600A>C (p.Ile534Leu)
n.1961A>C
9g.34517324A>GCA373266503DNAI1c.1858A>G (p.Ile620Val)
c.329+2585A>G
c.646A>G
n.434A>G
c.1870A>G (p.Ile624Val)
c.1327A>G (p.Ile443Val)
c.1612A>G (p.Ile538Val)
c.1600A>G (p.Ile534Val)
n.1961A>G
 gnomAD v4
9g.34517324A>TCA373266501DNAI1c.1858A>T (p.Ile620Phe)
c.329+2585A>T
c.646A>T
n.434A>T
c.1870A>T (p.Ile624Phe)
c.1327A>T (p.Ile443Phe)
c.1612A>T (p.Ile538Phe)
c.1600A>T (p.Ile534Phe)
n.1961A>T
9g.34517325T>ACA373266504DNAI1c.1859T>A (p.Ile620Asn)
c.329+2586T>A
c.647T>A
n.435T>A
c.1871T>A (p.Ile624Asn)
c.1328T>A (p.Ile443Asn)
c.1613T>A (p.Ile538Asn)
c.1601T>A (p.Ile534Asn)
n.1962T>A
9g.34517325T>CCA373266507DNAI1c.1859T>C (p.Ile620Thr)
c.329+2586T>C
c.647T>C
n.435T>C
c.1871T>C (p.Ile624Thr)
c.1328T>C (p.Ile443Thr)
c.1613T>C (p.Ile538Thr)
c.1601T>C (p.Ile534Thr)
n.1962T>C
9g.34517325T>GCA373266505DNAI1c.1859T>G (p.Ile620Ser)
c.329+2586T>G
c.647T>G
n.435T>G
c.1871T>G (p.Ile624Ser)
c.1328T>G (p.Ile443Ser)
c.1613T>G (p.Ile538Ser)
c.1601T>G (p.Ile534Ser)
n.1962T>G
9g.34517326C>ACA464398340DNAI1c.1860C>A (p.Ile620=)
c.329+2587C>A
c.648C>A
n.436C>A
c.1872C>A (p.Ile624=)
c.1329C>A (p.Ile443=)
c.1614C>A (p.Ile538=)
c.1602C>A (p.Ile534=)
n.1963C>A
9g.34517326C>GCA373266509DNAI1c.1860C>G (p.Ile620Met)
c.329+2587C>G
c.648C>G
n.436C>G
c.1872C>G (p.Ile624Met)
c.1329C>G (p.Ile443Met)
c.1614C>G (p.Ile538Met)
c.1602C>G (p.Ile534Met)
n.1963C>G
9g.34517326C>TCA464398341DNAI1c.1860C>T (p.Ile620=)
c.329+2587C>T
c.648C>T
n.436C>T
c.1872C>T (p.Ile624=)
c.1329C>T (p.Ile443=)
c.1614C>T (p.Ile538=)
c.1602C>T (p.Ile534=)
n.1963C>T
 gnomAD v4
9g.34517327T>ACA373266514DNAI1c.1861T>A (p.Cys621Ser)
c.329+2588T>A
c.649T>A
n.437T>A
c.1873T>A (p.Cys625Ser)
c.1330T>A (p.Cys444Ser)
c.1615T>A (p.Cys539Ser)
c.1603T>A (p.Cys535Ser)
n.1964T>A
9g.34517327T>CCA373266513DNAI1c.1861T>C (p.Cys621Arg)
c.329+2588T>C
c.649T>C
n.437T>C
c.1873T>C (p.Cys625Arg)
c.1330T>C (p.Cys444Arg)
c.1615T>C (p.Cys539Arg)
c.1603T>C (p.Cys535Arg)
n.1964T>C
 gnomAD v4
9g.34517327T>GCA373266518DNAI1c.1861T>G (p.Cys621Gly)
c.329+2588T>G
c.649T>G
n.437T>G
c.1873T>G (p.Cys625Gly)
c.1330T>G (p.Cys444Gly)
c.1615T>G (p.Cys539Gly)
c.1603T>G (p.Cys535Gly)
n.1964T>G
9g.34517328G>ACA373266521DNAI1c.1862G>A (p.Cys621Tyr)
c.329+2589G>A
c.650G>A
n.438G>A
c.1874G>A (p.Cys625Tyr)
c.1331G>A (p.Cys444Tyr)
c.1616G>A (p.Cys539Tyr)
c.1604G>A (p.Cys535Tyr)
n.1965G>A
9g.34517328G>CCA373266523DNAI1c.1862G>C (p.Cys621Ser)
c.329+2589G>C
c.650G>C
n.438G>C
c.1874G>C (p.Cys625Ser)
c.1331G>C (p.Cys444Ser)
c.1616G>C (p.Cys539Ser)
c.1604G>C (p.Cys535Ser)
n.1965G>C
9g.34517328G>TCA373266525DNAI1c.1862G>T (p.Cys621Phe)
c.329+2589G>T
c.650G>T
n.438G>T
c.1874G>T (p.Cys625Phe)
c.1331G>T (p.Cys444Phe)
c.1616G>T (p.Cys539Phe)
c.1604G>T (p.Cys535Phe)
n.1965G>T
9g.34517329C>ACA373266529DNAI1c.1863C>A (p.Cys621Ter)
c.329+2590C>A
c.651C>A
n.439C>A
c.1875C>A (p.Cys625Ter)
c.1332C>A (p.Cys444Ter)
c.1617C>A (p.Cys539Ter)
c.1605C>A (p.Cys535Ter)
n.1966C>A
9g.34517329C>GCA373266531DNAI1c.1863C>G (p.Cys621Trp)
c.329+2590C>G
c.651C>G
n.439C>G
c.1875C>G (p.Cys625Trp)
c.1332C>G (p.Cys444Trp)
c.1617C>G (p.Cys539Trp)
c.1605C>G (p.Cys535Trp)
n.1966C>G
9g.34517329C>TCA464398342DNAI1c.1863C>T (p.Cys621=)
c.329+2590C>T
c.651C>T
n.439C>T
c.1875C>T (p.Cys625=)
c.1332C>T (p.Cys444=)
c.1617C>T (p.Cys539=)
c.1605C>T (p.Cys535=)
n.1966C>T
9g.34517330A>CCA373266532DNAI1c.1864A>C (p.Asn622His)
c.329+2591A>C
c.652A>C
n.440A>C
c.1876A>C (p.Asn626His)
c.1333A>C (p.Asn445His)
c.1618A>C (p.Asn540His)
c.1606A>C (p.Asn536His)
n.1967A>C
9g.34517330A>GCA373266533DNAI1c.1864A>G (p.Asn622Asp)
c.329+2591A>G
c.652A>G
n.440A>G
c.1876A>G (p.Asn626Asp)
c.1333A>G (p.Asn445Asp)
c.1618A>G (p.Asn540Asp)
c.1606A>G (p.Asn536Asp)
n.1967A>G
9g.34517330A>TCA373266536DNAI1c.1864A>T (p.Asn622Tyr)
c.329+2591A>T
c.652A>T
n.440A>T
c.1876A>T (p.Asn626Tyr)
c.1333A>T (p.Asn445Tyr)
c.1618A>T (p.Asn540Tyr)
c.1606A>T (p.Asn536Tyr)
n.1967A>T
9g.34517331A=CA1845591621DNAI1c.1865A= (p.Asn622=)
c.329+2592A=
c.653A=
n.441A=
c.1877A= (p.Asn626=)
c.1334A= (p.Asn445=)
c.1619A= (p.Asn540=)
c.1607A= (p.Asn536=)
n.1968A=
9g.34517331A>CCA373266539DNAI1c.1865A>C (p.Asn622Thr)
c.329+2592A>C
c.653A>C
n.441A>C
c.1877A>C (p.Asn626Thr)
c.1334A>C (p.Asn445Thr)
c.1619A>C (p.Asn540Thr)
c.1607A>C (p.Asn536Thr)
n.1968A>C
 dbSNP
9g.34517331A>GCA5034566DNAI1c.1865A>G (p.Asn622Ser)
c.329+2592A>G
c.653A>G
n.441A>G
c.1877A>G (p.Asn626Ser)
c.1334A>G (p.Asn445Ser)
c.1619A>G (p.Asn540Ser)
c.1607A>G (p.Asn536Ser)
n.1968A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517331A>TCA373266542DNAI1c.1865A>T (p.Asn622Ile)
c.329+2592A>T
c.653A>T
n.441A>T
c.1877A>T (p.Asn626Ile)
c.1334A>T (p.Asn445Ile)
c.1619A>T (p.Asn540Ile)
c.1607A>T (p.Asn536Ile)
n.1968A>T
9g.34517331_34517339delinsACCAGCCTGCA1845591626DNAI1c.1865_1873delinsACCAGCCTG (p.Asn622=)
c.329+2592_329+2600delinsACCAGCCTG
c.653_661delinsACCAGCCTG
n.441_449delinsACCAGCCTG
c.1877_1885delinsACCAGCCTG (p.Asn626=)
c.1334_1342delinsACCAGCCTG (p.Asn445=)
c.1619_1627delinsACCAGCCTG (p.Asn540=)
c.1607_1615delinsACCAGCCTG (p.Asn536=)
n.1968_1976delinsACCAGCCTG
9g.34517332C>ACA373266546DNAI1c.1866C>A (p.Asn622Lys)
c.329+2593C>A
c.654C>A
n.442C>A
c.1878C>A (p.Asn626Lys)
c.1335C>A (p.Asn445Lys)
c.1620C>A (p.Asn540Lys)
c.1608C>A (p.Asn536Lys)
n.1969C>A
 gnomAD v4
9g.34517332C>GCA373266544DNAI1c.1866C>G (p.Asn622Lys)
c.329+2593C>G
c.654C>G
n.442C>G
c.1878C>G (p.Asn626Lys)
c.1335C>G (p.Asn445Lys)
c.1620C>G (p.Asn540Lys)
c.1608C>G (p.Asn536Lys)
n.1969C>G
 gnomAD v4
9g.34517332C>TCA464398343DNAI1c.1866C>T (p.Asn622=)
c.329+2593C>T
c.654C>T
n.442C>T
c.1878C>T (p.Asn626=)
c.1335C>T (p.Asn445=)
c.1620C>T (p.Asn540=)
c.1608C>T (p.Asn536=)
n.1969C>T
9g.34517332_34517339delCA1139660961DNAI1c.1866_1873del (p.Gln623GlyfsTer24)
c.329+2593_329+2600del
c.654_661del
n.442_449del
c.1878_1885del (p.Gln627GlyfsTer24)
c.1335_1342del (p.Gln446GlyfsTer24)
c.1620_1627del (p.Gln541GlyfsTer24)
c.1608_1615del (p.Gln537GlyfsTer24)
n.1969_1976del
 ClinVar dbSNP
9g.34517333C>ACA373266549DNAI1c.1867C>A (p.Gln623Lys)
c.329+2594C>A
c.655C>A
n.443C>A
c.1879C>A (p.Gln627Lys)
c.1336C>A (p.Gln446Lys)
c.1621C>A (p.Gln541Lys)
c.1609C>A (p.Gln537Lys)
n.1970C>A
9g.34517333C>GCA373266550DNAI1c.1867C>G (p.Gln623Glu)
c.329+2594C>G
c.655C>G
n.443C>G
c.1879C>G (p.Gln627Glu)
c.1336C>G (p.Gln446Glu)
c.1621C>G (p.Gln541Glu)
c.1609C>G (p.Gln537Glu)
n.1970C>G
9g.34517333C>TCA373266551DNAI1c.1867C>T (p.Gln623Ter)
c.329+2594C>T
c.655C>T
n.443C>T
c.1879C>T (p.Gln627Ter)
c.1336C>T (p.Gln446Ter)
c.1621C>T (p.Gln541Ter)
c.1609C>T (p.Gln537Ter)
n.1970C>T
9g.34517334A>CCA373266552DNAI1c.1868A>C (p.Gln623Pro)
c.329+2595A>C
c.656A>C
n.444A>C
c.1880A>C (p.Gln627Pro)
c.1337A>C (p.Gln446Pro)
c.1622A>C (p.Gln541Pro)
c.1610A>C (p.Gln537Pro)
n.1971A>C
 gnomAD v4
9g.34517334A>GCA373266553DNAI1c.1868A>G (p.Gln623Arg)
c.329+2595A>G
c.656A>G
n.444A>G
c.1880A>G (p.Gln627Arg)
c.1337A>G (p.Gln446Arg)
c.1622A>G (p.Gln541Arg)
c.1610A>G (p.Gln537Arg)
n.1971A>G
9g.34517334A>TCA373266554DNAI1c.1868A>T (p.Gln623Leu)
c.329+2595A>T
c.656A>T
n.444A>T
c.1880A>T (p.Gln627Leu)
c.1337A>T (p.Gln446Leu)
c.1622A>T (p.Gln541Leu)
c.1610A>T (p.Gln537Leu)
n.1971A>T
9g.34517335G>ACA464398344DNAI1c.1869G>A (p.Gln623=)
c.329+2596G>A
c.657G>A
n.445G>A
c.1881G>A (p.Gln627=)
c.1338G>A (p.Gln446=)
c.1623G>A (p.Gln541=)
c.1611G>A (p.Gln537=)
n.1972G>A
9g.34517335G>CCA373266556DNAI1c.1869G>C (p.Gln623His)
c.329+2596G>C
c.657G>C
n.445G>C
c.1881G>C (p.Gln627His)
c.1338G>C (p.Gln446His)
c.1623G>C (p.Gln541His)
c.1611G>C (p.Gln537His)
n.1972G>C
9g.34517335G>TCA373266558DNAI1c.1869G>T (p.Gln623His)
c.329+2596G>T
c.657G>T
n.445G>T
c.1881G>T (p.Gln627His)
c.1338G>T (p.Gln446His)
c.1623G>T (p.Gln541His)
c.1611G>T (p.Gln537His)
n.1972G>T
9g.34517335_34517336delinsGCCA1845591644DNAI1c.1869_1870delinsGC (p.Gln623=)
c.329+2596_329+2597delinsGC
c.657_658delinsGC
n.445_446delinsGC
c.1881_1882delinsGC (p.Gln627=)
c.1338_1339delinsGC (p.Gln446=)
c.1623_1624delinsGC (p.Gln541=)
c.1611_1612delinsGC (p.Gln537=)
n.1972_1973delinsGC
9g.34517336C>ACA373266559DNAI1c.1870C>A (p.Pro624Thr)
c.329+2597C>A
c.658C>A
n.446C>A
c.1882C>A (p.Pro628Thr)
c.1339C>A (p.Pro447Thr)
c.1624C>A (p.Pro542Thr)
c.1612C>A (p.Pro538Thr)
n.1973C>A
9g.34517336C=CA1845591653DNAI1c.1870C= (p.Pro624=)
c.329+2597C=
c.658C=
n.446C=
c.1882C= (p.Pro628=)
c.1339C= (p.Pro447=)
c.1624C= (p.Pro542=)
c.1612C= (p.Pro538=)
n.1973C=
9g.34517336C>GCA373266560DNAI1c.1870C>G (p.Pro624Ala)
c.329+2597C>G
c.658C>G
n.446C>G
c.1882C>G (p.Pro628Ala)
c.1339C>G (p.Pro447Ala)
c.1624C>G (p.Pro542Ala)
c.1612C>G (p.Pro538Ala)
n.1973C>G
 dbSNP gnomAD v4
9g.34517336C>TCA373266562DNAI1c.1870C>T (p.Pro624Ser)
c.329+2597C>T
c.658C>T
n.446C>T
c.1882C>T (p.Pro628Ser)
c.1339C>T (p.Pro447Ser)
c.1624C>T (p.Pro542Ser)
c.1612C>T (p.Pro538Ser)
n.1973C>T
 gnomAD v4
9g.34517337delCA587567973DNAI1c.1871del (p.Pro624LeufsTer?)
c.329+2598del
c.659del
n.447del
c.1883del (p.Pro628LeufsTer?)
c.1340del (p.Pro447LeufsTer?)
c.1625del (p.Pro542LeufsTer?)
c.1613del (p.Pro538LeufsTer?)
n.1974del
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517337C>ACA373266567DNAI1c.1871C>A (p.Pro624His)
c.329+2598C>A
c.659C>A
n.447C>A
c.1883C>A (p.Pro628His)
c.1340C>A (p.Pro447His)
c.1625C>A (p.Pro542His)
c.1613C>A (p.Pro538His)
n.1974C>A
9g.34517337C=CA1845591667DNAI1c.1871C= (p.Pro624=)
c.329+2598C=
c.659C=
n.447C=
c.1883C= (p.Pro628=)
c.1340C= (p.Pro447=)
c.1625C= (p.Pro542=)
c.1613C= (p.Pro538=)
n.1974C=
9g.34517337C>GCA373266565DNAI1c.1871C>G (p.Pro624Arg)
c.329+2598C>G
c.659C>G
n.447C>G
c.1883C>G (p.Pro628Arg)
c.1340C>G (p.Pro447Arg)
c.1625C>G (p.Pro542Arg)
c.1613C>G (p.Pro538Arg)
n.1974C>G
9g.34517337C>TCA5034567DNAI1c.1871C>T (p.Pro624Leu)
c.329+2598C>T
c.659C>T
n.447C>T
c.1883C>T (p.Pro628Leu)
c.1340C>T (p.Pro447Leu)
c.1625C>T (p.Pro542Leu)
c.1613C>T (p.Pro538Leu)
n.1974C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517338T>ACA464398345DNAI1c.1872T>A (p.Pro624=)
c.329+2599T>A
c.660T>A
n.448T>A
c.1884T>A (p.Pro628=)
c.1341T>A (p.Pro447=)
c.1626T>A (p.Pro542=)
c.1614T>A (p.Pro538=)
n.1975T>A
9g.34517338T>CCA464398346DNAI1c.1872T>C (p.Pro624=)
c.329+2599T>C
c.660T>C
n.448T>C
c.1884T>C (p.Pro628=)
c.1341T>C (p.Pro447=)
c.1626T>C (p.Pro542=)
c.1614T>C (p.Pro538=)
n.1975T>C
 gnomAD v4
9g.34517338T>GCA464398347DNAI1c.1872T>G (p.Pro624=)
c.329+2599T>G
c.660T>G
n.448T>G
c.1884T>G (p.Pro628=)
c.1341T>G (p.Pro447=)
c.1626T>G (p.Pro542=)
c.1614T>G (p.Pro538=)
n.1975T>G
9g.34517339G>ACA373266568DNAI1c.1873G>A (p.Val625Met)
c.329+2600G>A
c.661G>A
n.449G>A
c.1885G>A (p.Val629Met)
c.1342G>A (p.Val448Met)
c.1627G>A (p.Val543Met)
c.1615G>A (p.Val539Met)
n.1976G>A
 dbSNP gnomAD v3 gnomAD v4
9g.34517339G>CCA373266569DNAI1c.1873G>C (p.Val625Leu)
c.329+2600G>C
c.661G>C
n.449G>C
c.1885G>C (p.Val629Leu)
c.1342G>C (p.Val448Leu)
c.1627G>C (p.Val543Leu)
c.1615G>C (p.Val539Leu)
n.1976G>C
9g.34517339G=CA1845591676DNAI1c.1873G= (p.Val625=)
c.329+2600G=
c.661G=
n.449G=
c.1885G= (p.Val629=)
c.1342G= (p.Val448=)
c.1627G= (p.Val543=)
c.1615G= (p.Val539=)
n.1976G=
9g.34517339G>TCA373266570DNAI1c.1873G>T (p.Val625Leu)
c.329+2600G>T
c.661G>T
n.449G>T
c.1885G>T (p.Val629Leu)
c.1342G>T (p.Val448Leu)
c.1627G>T (p.Val543Leu)
c.1615G>T (p.Val539Leu)
n.1976G>T
9g.34517340T>ACA373266573DNAI1c.1874T>A (p.Val625Glu)
c.329+2601T>A
c.662T>A
n.450T>A
c.1886T>A (p.Val629Glu)
c.1343T>A (p.Val448Glu)
c.1628T>A (p.Val543Glu)
c.1616T>A (p.Val539Glu)
n.1977T>A
9g.34517340T>CCA373266575DNAI1c.1874T>C (p.Val625Ala)
c.329+2601T>C
c.662T>C
n.450T>C
c.1886T>C (p.Val629Ala)
c.1343T>C (p.Val448Ala)
c.1628T>C (p.Val543Ala)
c.1616T>C (p.Val539Ala)
n.1977T>C
9g.34517340T>GCA373266576DNAI1c.1874T>G (p.Val625Gly)
c.329+2601T>G
c.662T>G
n.450T>G
c.1886T>G (p.Val629Gly)
c.1343T>G (p.Val448Gly)
c.1628T>G (p.Val543Gly)
c.1616T>G (p.Val539Gly)
n.1977T>G
9g.34517341G>ACA5034568DNAI1c.1875G>A (p.Val625=)
c.329+2602G>A
c.663G>A
n.451G>A
c.1887G>A (p.Val629=)
c.1344G>A (p.Val448=)
c.1629G>A (p.Val543=)
c.1617G>A (p.Val539=)
n.1978G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517341G>CCA464398348DNAI1c.1875G>C (p.Val625=)
c.329+2602G>C
c.663G>C
n.451G>C
c.1887G>C (p.Val629=)
c.1344G>C (p.Val448=)
c.1629G>C (p.Val543=)
c.1617G>C (p.Val539=)
n.1978G>C
9g.34517341G=CA1845591681DNAI1c.1875G= (p.Val625=)
c.329+2602G=
c.663G=
n.451G=
c.1887G= (p.Val629=)
c.1344G= (p.Val448=)
c.1629G= (p.Val543=)
c.1617G= (p.Val539=)
n.1978G=
9g.34517341G>TCA464398349DNAI1c.1875G>T (p.Val625=)
c.329+2602G>T
c.663G>T
n.451G>T
c.1887G>T (p.Val629=)
c.1344G>T (p.Val448=)
c.1629G>T (p.Val543=)
c.1617G>T (p.Val539=)
n.1978G>T
 ClinVar
9g.34517342G>ACA373266580DNAI1c.1876G>A (p.Ala626Thr)
c.329+2603G>A
c.664G>A
n.452G>A
c.1888G>A (p.Ala630Thr)
c.1345G>A (p.Ala449Thr)
c.1630G>A (p.Ala544Thr)
c.1618G>A (p.Ala540Thr)
n.1979G>A
9g.34517342G>CCA373266582DNAI1c.1876G>C (p.Ala626Pro)
c.329+2603G>C
c.664G>C
n.452G>C
c.1888G>C (p.Ala630Pro)
c.1345G>C (p.Ala449Pro)
c.1630G>C (p.Ala544Pro)
c.1618G>C (p.Ala540Pro)
n.1979G>C
9g.34517342G>TCA373266584DNAI1c.1876G>T (p.Ala626Ser)
c.329+2603G>T
c.664G>T
n.452G>T
c.1888G>T (p.Ala630Ser)
c.1345G>T (p.Ala449Ser)
c.1630G>T (p.Ala544Ser)
c.1618G>T (p.Ala540Ser)
n.1979G>T
9g.34517343C>ACA373266586DNAI1c.1877C>A (p.Ala626Glu)
c.329+2604C>A
c.665C>A
n.453C>A
c.1889C>A (p.Ala630Glu)
c.1346C>A (p.Ala449Glu)
c.1631C>A (p.Ala544Glu)
c.1619C>A (p.Ala540Glu)
n.1980C>A
9g.34517343C=CA1845591684DNAI1c.1877C= (p.Ala626=)
c.329+2604C=
c.665C=
n.453C=
c.1889C= (p.Ala630=)
c.1346C= (p.Ala449=)
c.1631C= (p.Ala544=)
c.1619C= (p.Ala540=)
n.1980C=
9g.34517343C>GCA373266588DNAI1c.1877C>G (p.Ala626Gly)
c.329+2604C>G
c.665C>G
n.453C>G
c.1889C>G (p.Ala630Gly)
c.1346C>G (p.Ala449Gly)
c.1631C>G (p.Ala544Gly)
c.1619C>G (p.Ala540Gly)
n.1980C>G
9g.34517343C>TCA5034569DNAI1c.1877C>T (p.Ala626Val)
c.329+2604C>T
c.665C>T
n.453C>T
c.1889C>T (p.Ala630Val)
c.1346C>T (p.Ala449Val)
c.1631C>T (p.Ala544Val)
c.1619C>T (p.Ala540Val)
n.1980C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517344G>ACA5034570DNAI1c.1878G>A (p.Ala626=)
c.329+2605G>A
c.666G>A
n.454G>A
c.1890G>A (p.Ala630=)
c.1347G>A (p.Ala449=)
c.1632G>A (p.Ala544=)
c.1620G>A (p.Ala540=)
n.1981G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517344G>CCA464398350DNAI1c.1878G>C (p.Ala626=)
c.329+2605G>C
c.666G>C
n.454G>C
c.1890G>C (p.Ala630=)
c.1347G>C (p.Ala449=)
c.1632G>C (p.Ala544=)
c.1620G>C (p.Ala540=)
n.1981G>C
9g.34517344G=CA1845591693DNAI1c.1878G= (p.Ala626=)
c.329+2605G=
c.666G=
n.454G=
c.1890G= (p.Ala630=)
c.1347G= (p.Ala449=)
c.1632G= (p.Ala544=)
c.1620G= (p.Ala540=)
n.1981G=
9g.34517344G>TCA464398351DNAI1c.1878G>T (p.Ala626=)
c.329+2605G>T
c.666G>T
n.454G>T
c.1890G>T (p.Ala630=)
c.1347G>T (p.Ala449=)
c.1632G>T (p.Ala544=)
c.1620G>T (p.Ala540=)
n.1981G>T
9g.34517345G>ACA5034571DNAI1c.1879G>A (p.Ala627Thr)
c.329+2606G>A
c.667G>A
n.455G>A
c.1891G>A (p.Ala631Thr)
c.1348G>A (p.Ala450Thr)
c.1633G>A (p.Ala545Thr)
c.1621G>A (p.Ala541Thr)
n.1982G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517345G>CCA373266593DNAI1c.1879G>C (p.Ala627Pro)
c.329+2606G>C
c.667G>C
n.455G>C
c.1891G>C (p.Ala631Pro)
c.1348G>C (p.Ala450Pro)
c.1633G>C (p.Ala545Pro)
c.1621G>C (p.Ala541Pro)
n.1982G>C
9g.34517345G=CA1845591702DNAI1c.1879G= (p.Ala627=)
c.329+2606G=
c.667G=
n.455G=
c.1891G= (p.Ala631=)
c.1348G= (p.Ala450=)
c.1633G= (p.Ala545=)
c.1621G= (p.Ala541=)
n.1982G=
9g.34517345G>TCA373266595DNAI1c.1879G>T (p.Ala627Ser)
c.329+2606G>T
c.667G>T
n.455G>T
c.1891G>T (p.Ala631Ser)
c.1348G>T (p.Ala450Ser)
c.1633G>T (p.Ala545Ser)
c.1621G>T (p.Ala541Ser)
n.1982G>T
9g.34517346C>ACA373266597DNAI1c.1880C>A (p.Ala627Asp)
c.329+2607C>A
c.668C>A
n.456C>A
c.1892C>A (p.Ala631Asp)
c.1349C>A (p.Ala450Asp)
c.1634C>A (p.Ala545Asp)
c.1622C>A (p.Ala541Asp)
n.1983C>A
9g.34517346C>GCA373266599DNAI1c.1880C>G (p.Ala627Gly)
c.329+2607C>G
c.668C>G
n.456C>G
c.1892C>G (p.Ala631Gly)
c.1349C>G (p.Ala450Gly)
c.1634C>G (p.Ala545Gly)
c.1622C>G (p.Ala541Gly)
n.1983C>G
9g.34517346C>TCA373266601DNAI1c.1880C>T (p.Ala627Val)
c.329+2607C>T
c.668C>T
n.456C>T
c.1892C>T (p.Ala631Val)
c.1349C>T (p.Ala450Val)
c.1634C>T (p.Ala545Val)
c.1622C>T (p.Ala541Val)
n.1983C>T
9g.34517347C>ACA464398353DNAI1c.1881C>A (p.Ala627=)
c.329+2608C>A
c.669C>A
n.457C>A
c.1893C>A (p.Ala631=)
c.1350C>A (p.Ala450=)
c.1635C>A (p.Ala545=)
c.1623C>A (p.Ala541=)
n.1984C>A
 COSMIC
9g.34517347C>GCA464398354DNAI1c.1881C>G (p.Ala627=)
c.329+2608C>G
c.669C>G
n.457C>G
c.1893C>G (p.Ala631=)
c.1350C>G (p.Ala450=)
c.1635C>G (p.Ala545=)
c.1623C>G (p.Ala541=)
n.1984C>G
9g.34517347C>TCA464398352DNAI1c.1881C>T (p.Ala627=)
c.329+2608C>T
c.669C>T
n.457C>T
c.1893C>T (p.Ala631=)
c.1350C>T (p.Ala450=)
c.1635C>T (p.Ala545=)
c.1623C>T (p.Ala541=)
n.1984C>T
9g.34517348A>CCA373266603DNAI1c.1882A>C (p.Lys628Gln)
c.329+2609A>C
c.670A>C
n.458A>C
c.1894A>C (p.Lys632Gln)
c.1351A>C (p.Lys451Gln)
c.1636A>C (p.Lys546Gln)
c.1624A>C (p.Lys542Gln)
n.1985A>C
9g.34517348A>GCA373266604DNAI1c.1882A>G (p.Lys628Glu)
c.329+2609A>G
c.670A>G
n.458A>G
c.1894A>G (p.Lys632Glu)
c.1351A>G (p.Lys451Glu)
c.1636A>G (p.Lys546Glu)
c.1624A>G (p.Lys542Glu)
n.1985A>G
9g.34517348A>TCA373266605DNAI1c.1882A>T (p.Lys628Ter)
c.329+2609A>T
c.670A>T
n.458A>T
c.1894A>T (p.Lys632Ter)
c.1351A>T (p.Lys451Ter)
c.1636A>T (p.Lys546Ter)
c.1624A>T (p.Lys542Ter)
n.1985A>T
9g.34517349A>CCA373266607DNAI1c.1883A>C (p.Lys628Thr)
c.329+2610A>C
c.671A>C
n.459A>C
c.1895A>C (p.Lys632Thr)
c.1352A>C (p.Lys451Thr)
c.1637A>C (p.Lys546Thr)
c.1625A>C (p.Lys542Thr)
n.1986A>C
9g.34517349A>GCA373266609DNAI1c.1883A>G (p.Lys628Arg)
c.329+2610A>G
c.671A>G
n.459A>G
c.1895A>G (p.Lys632Arg)
c.1352A>G (p.Lys451Arg)
c.1637A>G (p.Lys546Arg)
c.1625A>G (p.Lys542Arg)
n.1986A>G
9g.34517349A>TCA373266611DNAI1c.1883A>T (p.Lys628Ile)
c.329+2610A>T
c.671A>T
n.459A>T
c.1895A>T (p.Lys632Ile)
c.1352A>T (p.Lys451Ile)
c.1637A>T (p.Lys546Ile)
c.1625A>T (p.Lys542Ile)
n.1986A>T
9g.34517350A=CA1845591706DNAI1c.1884A= (p.Lys628=)
c.329+2611A=
c.672A=
n.460A=
c.1896A= (p.Lys632=)
c.1353A= (p.Lys451=)
c.1638A= (p.Lys546=)
c.1626A= (p.Lys542=)
n.1987A=
9g.34517350A>CCA373266615DNAI1c.1884A>C (p.Lys628Asn)
c.329+2611A>C
c.672A>C
n.460A>C
c.1896A>C (p.Lys632Asn)
c.1353A>C (p.Lys451Asn)
c.1638A>C (p.Lys546Asn)
c.1626A>C (p.Lys542Asn)
n.1987A>C
9g.34517350A>GCA5034572DNAI1c.1884A>G (p.Lys628=)
c.329+2611A>G
c.672A>G
n.460A>G
c.1896A>G (p.Lys632=)
c.1353A>G (p.Lys451=)
c.1638A>G (p.Lys546=)
c.1626A>G (p.Lys542=)
n.1987A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517350A>TCA373266613DNAI1c.1884A>T (p.Lys628Asn)
c.329+2611A>T
c.672A>T
n.460A>T
c.1896A>T (p.Lys632Asn)
c.1353A>T (p.Lys451Asn)
c.1638A>T (p.Lys546Asn)
c.1626A>T (p.Lys542Asn)
n.1987A>T
9g.34517351A>CCA373266624DNAI1c.1885A>C (p.Lys629Gln)
c.329+2612A>C
c.673A>C
n.461A>C
c.1897A>C (p.Lys633Gln)
c.1354A>C (p.Lys452Gln)
c.1639A>C (p.Lys547Gln)
c.1627A>C (p.Lys543Gln)
n.1988A>C
9g.34517351A>GCA373266619DNAI1c.1885A>G (p.Lys629Glu)
c.329+2612A>G
c.673A>G
n.461A>G
c.1897A>G (p.Lys633Glu)
c.1354A>G (p.Lys452Glu)
c.1639A>G (p.Lys547Glu)
c.1627A>G (p.Lys543Glu)
n.1988A>G
9g.34517351A>TCA373266623DNAI1c.1885A>T (p.Lys629Ter)
c.329+2612A>T
c.673A>T
n.461A>T
c.1897A>T (p.Lys633Ter)
c.1354A>T (p.Lys452Ter)
c.1639A>T (p.Lys547Ter)
c.1627A>T (p.Lys543Ter)
n.1988A>T
9g.34517352A>CCA373266627DNAI1c.1886A>C (p.Lys629Thr)
c.329+2613A>C
c.674A>C
n.462A>C
c.1898A>C (p.Lys633Thr)
c.1355A>C (p.Lys452Thr)
c.1640A>C (p.Lys547Thr)
c.1628A>C (p.Lys543Thr)
n.1989A>C
9g.34517352A>GCA373266629DNAI1c.1886A>G (p.Lys629Arg)
c.329+2613A>G
c.674A>G
n.462A>G
c.1898A>G (p.Lys633Arg)
c.1355A>G (p.Lys452Arg)
c.1640A>G (p.Lys547Arg)
c.1628A>G (p.Lys543Arg)
n.1989A>G
9g.34517352A>TCA373266630DNAI1c.1886A>T (p.Lys629Met)
c.329+2613A>T
c.674A>T
n.462A>T
c.1898A>T (p.Lys633Met)
c.1355A>T (p.Lys452Met)
c.1640A>T (p.Lys547Met)
c.1628A>T (p.Lys543Met)
n.1989A>T
9g.34517353delCA2573144578DNAI1c.1887del (p.Asn630ThrfsTer?)
c.329+2614del
c.675del
n.463del
c.1899del (p.Asn634ThrfsTer?)
c.1356del (p.Asn453ThrfsTer?)
c.1641del (p.Asn548ThrfsTer?)
c.1629del (p.Asn544ThrfsTer?)
n.1990del
 ClinVar dbSNP gnomAD v4
9g.34517353G>ACA464398355DNAI1c.1887G>A (p.Lys629=)
c.329+2614G>A
c.675G>A
n.463G>A
c.1899G>A (p.Lys633=)
c.1356G>A (p.Lys452=)
c.1641G>A (p.Lys547=)
c.1629G>A (p.Lys543=)
n.1990G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517353G>CCA373266632DNAI1c.1887G>C (p.Lys629Asn)
c.329+2614G>C
c.675G>C
n.463G>C
c.1899G>C (p.Lys633Asn)
c.1356G>C (p.Lys452Asn)
c.1641G>C (p.Lys547Asn)
c.1629G>C (p.Lys543Asn)
n.1990G>C
 gnomAD v4
9g.34517353G=CA1845591775DNAI1c.1887G= (p.Lys629=)
c.329+2614G=
c.675G=
n.463G=
c.1899G= (p.Lys633=)
c.1356G= (p.Lys452=)
c.1641G= (p.Lys547=)
c.1629G= (p.Lys543=)
n.1990G=
9g.34517353G>TCA373266634DNAI1c.1887G>T (p.Lys629Asn)
c.329+2614G>T
c.675G>T
n.463G>T
c.1899G>T (p.Lys633Asn)
c.1356G>T (p.Lys452Asn)
c.1641G>T (p.Lys547Asn)
c.1629G>T (p.Lys543Asn)
n.1990G>T
9g.34517354A=CA1845591801DNAI1c.1888A= (p.Asn630=)
c.329+2615A=
c.676A=
n.464A=
c.1900A= (p.Asn634=)
c.1357A= (p.Asn453=)
c.1642A= (p.Asn548=)
c.1630A= (p.Asn544=)
n.1991A=
9g.34517354A>CCA373266636DNAI1c.1888A>C (p.Asn630His)
c.329+2615A>C
c.676A>C
n.464A>C
c.1900A>C (p.Asn634His)
c.1357A>C (p.Asn453His)
c.1642A>C (p.Asn548His)
c.1630A>C (p.Asn544His)
n.1991A>C
9g.34517354A>GCA373266639DNAI1c.1888A>G (p.Asn630Asp)
c.329+2615A>G
c.676A>G
n.464A>G
c.1900A>G (p.Asn634Asp)
c.1357A>G (p.Asn453Asp)
c.1642A>G (p.Asn548Asp)
c.1630A>G (p.Asn544Asp)
n.1991A>G
 dbSNP
9g.34517354A>TCA373266640DNAI1c.1888A>T (p.Asn630Tyr)
c.329+2615A>T
c.676A>T
n.464A>T
c.1900A>T (p.Asn634Tyr)
c.1357A>T (p.Asn453Tyr)
c.1642A>T (p.Asn548Tyr)
c.1630A>T (p.Asn544Tyr)
n.1991A>T
 gnomAD v4
9g.34517355A>CCA373266641DNAI1c.1889A>C (p.Asn630Thr)
c.329+2616A>C
c.677A>C
n.465A>C
c.1901A>C (p.Asn634Thr)
c.1358A>C (p.Asn453Thr)
c.1643A>C (p.Asn548Thr)
c.1631A>C (p.Asn544Thr)
n.1992A>C
9g.34517355A>GCA373266643DNAI1c.1889A>G (p.Asn630Ser)
c.329+2616A>G
c.677A>G
n.465A>G
c.1901A>G (p.Asn634Ser)
c.1358A>G (p.Asn453Ser)
c.1643A>G (p.Asn548Ser)
c.1631A>G (p.Asn544Ser)
n.1992A>G
9g.34517355A>TCA373266645DNAI1c.1889A>T (p.Asn630Ile)
c.329+2616A>T
c.677A>T
n.465A>T
c.1901A>T (p.Asn634Ile)
c.1358A>T (p.Asn453Ile)
c.1643A>T (p.Asn548Ile)
c.1631A>T (p.Asn544Ile)
n.1992A>T
9g.34517356C>ACA373266647DNAI1c.1890C>A (p.Asn630Lys)
c.329+2617C>A
c.678C>A
n.466C>A
c.1902C>A (p.Asn634Lys)
c.1359C>A (p.Asn453Lys)
c.1644C>A (p.Asn548Lys)
c.1632C>A (p.Asn544Lys)
n.1993C>A
9g.34517356C=CA1845591805DNAI1c.1890C= (p.Asn630=)
c.329+2617C=
c.678C=
n.466C=
c.1902C= (p.Asn634=)
c.1359C= (p.Asn453=)
c.1644C= (p.Asn548=)
c.1632C= (p.Asn544=)
n.1993C=
9g.34517356C>GCA373266650DNAI1c.1890C>G (p.Asn630Lys)
c.329+2617C>G
c.678C>G
n.466C>G
c.1902C>G (p.Asn634Lys)
c.1359C>G (p.Asn453Lys)
c.1644C>G (p.Asn548Lys)
c.1632C>G (p.Asn544Lys)
n.1993C>G
9g.34517356C>TCA5034573DNAI1c.1890C>T (p.Asn630=)
c.329+2617C>T
c.678C>T
n.466C>T
c.1902C>T (p.Asn634=)
c.1359C>T (p.Asn453=)
c.1644C>T (p.Asn548=)
c.1632C>T (p.Asn544=)
n.1993C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517357A>CCA464398356DNAI1c.1891A>C (p.Arg631=)
c.329+2618A>C
c.679A>C
n.467A>C
c.1903A>C (p.Arg635=)
c.1360A>C (p.Arg454=)
c.1645A>C (p.Arg549=)
c.1633A>C (p.Arg545=)
n.1994A>C
9g.34517357A>GCA373266653DNAI1c.1891A>G (p.Arg631Gly)
c.329+2618A>G
c.679A>G
n.467A>G
c.1903A>G (p.Arg635Gly)
c.1360A>G (p.Arg454Gly)
c.1645A>G (p.Arg549Gly)
c.1633A>G (p.Arg545Gly)
n.1994A>G
9g.34517357A>TCA373266654DNAI1c.1891A>T (p.Arg631Trp)
c.329+2618A>T
c.679A>T
n.467A>T
c.1903A>T (p.Arg635Trp)
c.1360A>T (p.Arg454Trp)
c.1645A>T (p.Arg549Trp)
c.1633A>T (p.Arg545Trp)
n.1994A>T
9g.34517358G>ACA373266657DNAI1c.1892G>A (p.Arg631Lys)
c.329+2619G>A
c.680G>A
n.468G>A
c.1904G>A (p.Arg635Lys)
c.1361G>A (p.Arg454Lys)
c.1646G>A (p.Arg549Lys)
c.1634G>A (p.Arg545Lys)
n.1995G>A
 gnomAD v4
9g.34517358G>CCA373266659DNAI1c.1892G>C (p.Arg631Thr)
c.329+2619G>C
c.680G>C
n.468G>C
c.1904G>C (p.Arg635Thr)
c.1361G>C (p.Arg454Thr)
c.1646G>C (p.Arg549Thr)
c.1634G>C (p.Arg545Thr)
n.1995G>C
9g.34517358G>TCA373266660DNAI1c.1892G>T (p.Arg631Met)
c.329+2619G>T
c.680G>T
n.468G>T
c.1904G>T (p.Arg635Met)
c.1361G>T (p.Arg454Met)
c.1646G>T (p.Arg549Met)
c.1634G>T (p.Arg545Met)
n.1995G>T
 gnomAD v4
9g.34517359G>ACA464398357DNAI1c.1893G>A (p.Arg631=)
c.329+2620G>A
c.681G>A
n.469G>A
c.1905G>A (p.Arg635=)
c.1362G>A (p.Arg454=)
c.1647G>A (p.Arg549=)
c.1635G>A (p.Arg545=)
n.1996G>A
 gnomAD v4
9g.34517359G>CCA373266663DNAI1c.1893G>C (p.Arg631Ser)
c.329+2620G>C
c.681G>C
n.469G>C
c.1905G>C (p.Arg635Ser)
c.1362G>C (p.Arg454Ser)
c.1647G>C (p.Arg549Ser)
c.1635G>C (p.Arg545Ser)
n.1996G>C
 dbSNP gnomAD v2 gnomAD v4
9g.34517359G=CA1845591810DNAI1c.1893G= (p.Arg631=)
c.329+2620G=
c.681G=
n.469G=
c.1905G= (p.Arg635=)
c.1362G= (p.Arg454=)
c.1647G= (p.Arg549=)
c.1635G= (p.Arg545=)
n.1996G=
9g.34517359G>TCA373266664DNAI1c.1893G>T (p.Arg631Ser)
c.329+2620G>T
c.681G>T
n.469G>T
c.1905G>T (p.Arg635Ser)
c.1362G>T (p.Arg454Ser)
c.1647G>T (p.Arg549Ser)
c.1635G>T (p.Arg545Ser)
n.1996G>T
9g.34517360C>ACA373266666DNAI1c.1894C>A (p.Leu632Ile)
c.329+2621C>A
c.682C>A
n.470C>A
c.1906C>A (p.Leu636Ile)
c.1363C>A (p.Leu455Ile)
c.1648C>A (p.Leu550Ile)
c.1636C>A (p.Leu546Ile)
n.1997C>A
9g.34517360C>GCA373266668DNAI1c.1894C>G (p.Leu632Val)
c.329+2621C>G
c.682C>G
n.470C>G
c.1906C>G (p.Leu636Val)
c.1363C>G (p.Leu455Val)
c.1648C>G (p.Leu550Val)
c.1636C>G (p.Leu546Val)
n.1997C>G
9g.34517360C>TCA373266670DNAI1c.1894C>T (p.Leu632Phe)
c.329+2621C>T
c.682C>T
n.470C>T
c.1906C>T (p.Leu636Phe)
c.1363C>T (p.Leu455Phe)
c.1648C>T (p.Leu550Phe)
c.1636C>T (p.Leu546Phe)
n.1997C>T
 gnomAD v4
9g.34517361T>ACA373266673DNAI1c.1895T>A (p.Leu632His)
c.329+2622T>A
c.683T>A
n.471T>A
c.1907T>A (p.Leu636His)
c.1364T>A (p.Leu455His)
c.1649T>A (p.Leu550His)
c.1637T>A (p.Leu546His)
n.1998T>A
9g.34517361T>CCA373266675DNAI1c.1895T>C (p.Leu632Pro)
c.329+2622T>C
c.683T>C
n.471T>C
c.1907T>C (p.Leu636Pro)
c.1364T>C (p.Leu455Pro)
c.1649T>C (p.Leu550Pro)
c.1637T>C (p.Leu546Pro)
n.1998T>C
9g.34517361T>GCA373266672DNAI1c.1895T>G (p.Leu632Arg)
c.329+2622T>G
c.683T>G
n.471T>G
c.1907T>G (p.Leu636Arg)
c.1364T>G (p.Leu455Arg)
c.1649T>G (p.Leu550Arg)
c.1637T>G (p.Leu546Arg)
n.1998T>G
9g.34517362C>ACA464398358DNAI1c.1896C>A (p.Leu632=)
c.329+2623C>A
c.684C>A
n.472C>A
c.1908C>A (p.Leu636=)
c.1365C>A (p.Leu455=)
c.1650C>A (p.Leu550=)
c.1638C>A (p.Leu546=)
n.1999C>A
9g.34517362C>GCA464398359DNAI1c.1896C>G (p.Leu632=)
c.329+2623C>G
c.684C>G
n.472C>G
c.1908C>G (p.Leu636=)
c.1365C>G (p.Leu455=)
c.1650C>G (p.Leu550=)
c.1638C>G (p.Leu546=)
n.1999C>G
9g.34517362C>TCA464398360DNAI1c.1896C>T (p.Leu632=)
c.329+2623C>T
c.684C>T
n.472C>T
c.1908C>T (p.Leu636=)
c.1365C>T (p.Leu455=)
c.1650C>T (p.Leu550=)
c.1638C>T (p.Leu546=)
n.1999C>T
 gnomAD v4 COSMIC
9g.34517363A=CA1845591815DNAI1c.1897A= (p.Thr633=)
c.329+2624A=
c.685A=
n.473A=
c.1909A= (p.Thr637=)
c.1366A= (p.Thr456=)
c.1651A= (p.Thr551=)
c.1639A= (p.Thr547=)
n.2000A=
9g.34517363A>CCA373266678DNAI1c.1897A>C (p.Thr633Pro)
c.329+2624A>C
c.685A>C
n.473A>C
c.1909A>C (p.Thr637Pro)
c.1366A>C (p.Thr456Pro)
c.1651A>C (p.Thr551Pro)
c.1639A>C (p.Thr547Pro)
n.2000A>C
9g.34517363A>GCA373266679DNAI1c.1897A>G (p.Thr633Ala)
c.329+2624A>G
c.685A>G
n.473A>G
c.1909A>G (p.Thr637Ala)
c.1366A>G (p.Thr456Ala)
c.1651A>G (p.Thr551Ala)
c.1639A>G (p.Thr547Ala)
n.2000A>G
9g.34517363A>TCA373266680DNAI1c.1897A>T (p.Thr633Ser)
c.329+2624A>T
c.685A>T
n.473A>T
c.1909A>T (p.Thr637Ser)
c.1366A>T (p.Thr456Ser)
c.1651A>T (p.Thr551Ser)
c.1639A>T (p.Thr547Ser)
n.2000A>T
9g.34517364C>ACA373266682DNAI1c.1898C>A (p.Thr633Asn)
c.329+2625C>A
c.686C>A
n.474C>A
c.1910C>A (p.Thr637Asn)
c.1367C>A (p.Thr456Asn)
c.1652C>A (p.Thr551Asn)
c.1640C>A (p.Thr547Asn)
n.2001C>A
 dbSNP gnomAD v3 gnomAD v4
9g.34517364C=CA1845591825DNAI1c.1898C= (p.Thr633=)
c.329+2625C=
c.686C=
n.474C=
c.1910C= (p.Thr637=)
c.1367C= (p.Thr456=)
c.1652C= (p.Thr551=)
c.1640C= (p.Thr547=)
n.2001C=
9g.34517364C>GCA373266684DNAI1c.1898C>G (p.Thr633Ser)
c.329+2625C>G
c.686C>G
n.474C>G
c.1910C>G (p.Thr637Ser)
c.1367C>G (p.Thr456Ser)
c.1652C>G (p.Thr551Ser)
c.1640C>G (p.Thr547Ser)
n.2001C>G
 gnomAD v4
9g.34517364C>TCA373266686DNAI1c.1898C>T (p.Thr633Ile)
c.329+2625C>T
c.686C>T
n.474C>T
c.1910C>T (p.Thr637Ile)
c.1367C>T (p.Thr456Ile)
c.1652C>T (p.Thr551Ile)
c.1640C>T (p.Thr547Ile)
n.2001C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517366dupCA1139660962DNAI1c.1900dup (p.His634ProfsTer16)
c.329+2627dup
c.688dup
n.476dup
c.1912dup (p.His638ProfsTer16)
c.1369dup (p.His457ProfsTer16)
c.1654dup (p.His552ProfsTer16)
c.1642dup (p.His548ProfsTer16)
n.2003dup
 ClinVar dbSNP
9g.34517365C>ACA464398361DNAI1c.1899C>A (p.Thr633=)
c.329+2626C>A
c.687C>A
n.475C>A
c.1911C>A (p.Thr637=)
c.1368C>A (p.Thr456=)
c.1653C>A (p.Thr551=)
c.1641C>A (p.Thr547=)
n.2002C>A
 ClinVar dbSNP gnomAD v4
9g.34517365C=CA1845591843DNAI1c.1899C= (p.Thr633=)
c.329+2626C=
c.687C=
n.475C=
c.1911C= (p.Thr637=)
c.1368C= (p.Thr456=)
c.1653C= (p.Thr551=)
c.1641C= (p.Thr547=)
n.2002C=
9g.34517365C>GCA464398362DNAI1c.1899C>G (p.Thr633=)
c.329+2626C>G
c.687C>G
n.475C>G
c.1911C>G (p.Thr637=)
c.1368C>G (p.Thr456=)
c.1653C>G (p.Thr551=)
c.1641C>G (p.Thr547=)
n.2002C>G
 dbSNP
9g.34517365C>TCA464398363DNAI1c.1899C>T (p.Thr633=)
c.329+2626C>T
c.687C>T
n.475C>T
c.1911C>T (p.Thr637=)
c.1368C>T (p.Thr456=)
c.1653C>T (p.Thr551=)
c.1641C>T (p.Thr547=)
n.2002C>T
 ClinVar
9g.34517366C>ACA373266688DNAI1c.1900C>A (p.His634Asn)
c.329+2627C>A
c.688C>A
n.476C>A
c.1912C>A (p.His638Asn)
c.1369C>A (p.His457Asn)
c.1654C>A (p.His552Asn)
c.1642C>A (p.His548Asn)
n.2003C>A
9g.34517366C>GCA373266690DNAI1c.1900C>G (p.His634Asp)
c.329+2627C>G
c.688C>G
n.476C>G
c.1912C>G (p.His638Asp)
c.1369C>G (p.His457Asp)
c.1654C>G (p.His552Asp)
c.1642C>G (p.His548Asp)
n.2003C>G
 gnomAD v4
9g.34517366C>TCA373266692DNAI1c.1900C>T (p.His634Tyr)
c.329+2627C>T
c.688C>T
n.476C>T
c.1912C>T (p.His638Tyr)
c.1369C>T (p.His457Tyr)
c.1654C>T (p.His552Tyr)
c.1642C>T (p.His548Tyr)
n.2003C>T
 gnomAD v4
9g.34517367A>CCA373266693DNAI1c.1901A>C (p.His634Pro)
c.329+2628A>C
c.689A>C
n.477A>C
c.1913A>C (p.His638Pro)
c.1370A>C (p.His457Pro)
c.1655A>C (p.His552Pro)
c.1643A>C (p.His548Pro)
n.2004A>C
9g.34517367A>GCA373266694DNAI1c.1901A>G (p.His634Arg)
c.329+2628A>G
c.689A>G
n.477A>G
c.1913A>G (p.His638Arg)
c.1370A>G (p.His457Arg)
c.1655A>G (p.His552Arg)
c.1643A>G (p.His548Arg)
n.2004A>G
9g.34517367A>TCA373266695DNAI1c.1901A>T (p.His634Leu)
c.329+2628A>T
c.689A>T
n.477A>T
c.1913A>T (p.His638Leu)
c.1370A>T (p.His457Leu)
c.1655A>T (p.His552Leu)
c.1643A>T (p.His548Leu)
n.2004A>T
9g.34517368C>ACA373266698DNAI1c.1902C>A (p.His634Gln)
c.329+2629C>A
c.690C>A
n.478C>A
c.1914C>A (p.His638Gln)
c.1371C>A (p.His457Gln)
c.1656C>A (p.His552Gln)
c.1644C>A (p.His548Gln)
n.2005C>A
 gnomAD v4
9g.34517368C=CA1845591857DNAI1c.1902C= (p.His634=)
c.329+2629C=
c.690C=
n.478C=
c.1914C= (p.His638=)
c.1371C= (p.His457=)
c.1656C= (p.His552=)
c.1644C= (p.His548=)
n.2005C=
9g.34517368C>GCA373266700DNAI1c.1902C>G (p.His634Gln)
c.329+2629C>G
c.690C>G
n.478C>G
c.1914C>G (p.His638Gln)
c.1371C>G (p.His457Gln)
c.1656C>G (p.His552Gln)
c.1644C>G (p.His548Gln)
n.2005C>G
9g.34517368C>TCA5034574DNAI1c.1902C>T (p.His634=)
c.329+2629C>T
c.690C>T
n.478C>T
c.1914C>T (p.His638=)
c.1371C>T (p.His457=)
c.1656C>T (p.His552=)
c.1644C>T (p.His548=)
n.2005C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517369G>ACA5034575DNAI1c.1903G>A (p.Val635Met)
c.329+2630G>A
c.691G>A
n.479G>A
c.1915G>A (p.Val639Met)
c.1372G>A (p.Val458Met)
c.1657G>A (p.Val553Met)
c.1645G>A (p.Val549Met)
n.2006G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517369G>CCA373266702DNAI1c.1903G>C (p.Val635Leu)
c.329+2630G>C
c.691G>C
n.479G>C
c.1915G>C (p.Val639Leu)
c.1372G>C (p.Val458Leu)
c.1657G>C (p.Val553Leu)
c.1645G>C (p.Val549Leu)
n.2006G>C
9g.34517369G=CA1845591876DNAI1c.1903G= (p.Val635=)
c.329+2630G=
c.691G=
n.479G=
c.1915G= (p.Val639=)
c.1372G= (p.Val458=)
c.1657G= (p.Val553=)
c.1645G= (p.Val549=)
n.2006G=
9g.34517369G>TCA373266705DNAI1c.1903G>T (p.Val635Leu)
c.329+2630G>T
c.691G>T
n.479G>T
c.1915G>T (p.Val639Leu)
c.1372G>T (p.Val458Leu)
c.1657G>T (p.Val553Leu)
c.1645G>T (p.Val549Leu)
n.2006G>T
 gnomAD v4
9g.34517370_34517371delCA2783508340DNAI1c.1904_1905del (p.Val635AlafsTer14)
c.329+2631_329+2632del
c.692_693del
n.480_481del
c.1916_1917del (p.Val639AlafsTer14)
c.1373_1374del (p.Val458AlafsTer14)
c.1658_1659del (p.Val553AlafsTer14)
c.1646_1647del (p.Val549AlafsTer14)
n.2007_2008del
9g.34517370T>ACA373266707DNAI1c.1904T>A (p.Val635Glu)
c.329+2631T>A
c.692T>A
n.480T>A
c.1916T>A (p.Val639Glu)
c.1373T>A (p.Val458Glu)
c.1658T>A (p.Val553Glu)
c.1646T>A (p.Val549Glu)
n.2007T>A
9g.34517370T>CCA373266709DNAI1c.1904T>C (p.Val635Ala)
c.329+2631T>C
c.692T>C
n.480T>C
c.1916T>C (p.Val639Ala)
c.1373T>C (p.Val458Ala)
c.1658T>C (p.Val553Ala)
c.1646T>C (p.Val549Ala)
n.2007T>C
9g.34517370T>GCA373266711DNAI1c.1904T>G (p.Val635Gly)
c.329+2631T>G
c.692T>G
n.480T>G
c.1916T>G (p.Val639Gly)
c.1373T>G (p.Val458Gly)
c.1658T>G (p.Val553Gly)
c.1646T>G (p.Val549Gly)
n.2007T>G
9g.34517371G>ACA464398364DNAI1c.1905G>A (p.Val635=)
c.329+2632G>A
c.693G>A
n.481G>A
c.1917G>A (p.Val639=)
c.1374G>A (p.Val458=)
c.1659G>A (p.Val553=)
c.1647G>A (p.Val549=)
n.2008G>A
9g.34517371G>CCA464398365DNAI1c.1905G>C (p.Val635=)
c.329+2632G>C
c.693G>C
n.481G>C
c.1917G>C (p.Val639=)
c.1374G>C (p.Val458=)
c.1659G>C (p.Val553=)
c.1647G>C (p.Val549=)
n.2008G>C
9g.34517371G>TCA464398366DNAI1c.1905G>T (p.Val635=)
c.329+2632G>T
c.693G>T
n.481G>T
c.1917G>T (p.Val639=)
c.1374G>T (p.Val458=)
c.1659G>T (p.Val553=)
c.1647G>T (p.Val549=)
n.2008G>T
9g.34517372C>ACA5034576DNAI1c.1906C>A (p.Gln636Lys)
c.329+2633C>A
c.694C>A
n.482C>A
c.1918C>A (p.Gln640Lys)
c.1375C>A (p.Gln459Lys)
c.1660C>A (p.Gln554Lys)
c.1648C>A (p.Gln550Lys)
n.2009C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517372C=CA1845591892DNAI1c.1906C= (p.Gln636=)
c.329+2633C=
c.694C=
n.482C=
c.1918C= (p.Gln640=)
c.1375C= (p.Gln459=)
c.1660C= (p.Gln554=)
c.1648C= (p.Gln550=)
n.2009C=
9g.34517372C>GCA373266716DNAI1c.1906C>G (p.Gln636Glu)
c.329+2633C>G
c.694C>G
n.482C>G
c.1918C>G (p.Gln640Glu)
c.1375C>G (p.Gln459Glu)
c.1660C>G (p.Gln554Glu)
c.1648C>G (p.Gln550Glu)
n.2009C>G
9g.34517372C>TCA373266714DNAI1c.1906C>T (p.Gln636Ter)
c.329+2633C>T
c.694C>T
n.482C>T
c.1918C>T (p.Gln640Ter)
c.1375C>T (p.Gln459Ter)
c.1660C>T (p.Gln554Ter)
c.1648C>T (p.Gln550Ter)
n.2009C>T
 dbSNP
9g.34517373A=CA1845591897DNAI1c.1907A= (p.Gln636=)
c.329+2634A=
c.695A=
n.483A=
c.1919A= (p.Gln640=)
c.1376A= (p.Gln459=)
c.1661A= (p.Gln554=)
c.1649A= (p.Gln550=)
n.2010A=
9g.34517373A>CCA373266718DNAI1c.1907A>C (p.Gln636Pro)
c.329+2634A>C
c.695A>C
n.483A>C
c.1919A>C (p.Gln640Pro)
c.1376A>C (p.Gln459Pro)
c.1661A>C (p.Gln554Pro)
c.1649A>C (p.Gln550Pro)
n.2010A>C
9g.34517373A>GCA5034577DNAI1c.1907A>G (p.Gln636Arg)
c.329+2634A>G
c.695A>G
n.483A>G
c.1919A>G (p.Gln640Arg)
c.1376A>G (p.Gln459Arg)
c.1661A>G (p.Gln554Arg)
c.1649A>G (p.Gln550Arg)
n.2010A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517373A>TCA373266720DNAI1c.1907A>T (p.Gln636Leu)
c.329+2634A>T
c.695A>T
n.483A>T
c.1919A>T (p.Gln640Leu)
c.1376A>T (p.Gln459Leu)
c.1661A>T (p.Gln554Leu)
c.1649A>T (p.Gln550Leu)
n.2010A>T
9g.34517374G>ACA464398367DNAI1c.1908G>A (p.Gln636=)
c.329+2635G>A
c.696G>A
n.484G>A
c.1920G>A (p.Gln640=)
c.1377G>A (p.Gln459=)
c.1662G>A (p.Gln554=)
c.1650G>A (p.Gln550=)
n.2011G>A
9g.34517374G>CCA373266722DNAI1c.1908G>C (p.Gln636His)
c.329+2635G>C
c.696G>C
n.484G>C
c.1920G>C (p.Gln640His)
c.1377G>C (p.Gln459His)
c.1662G>C (p.Gln554His)
c.1650G>C (p.Gln550His)
n.2011G>C
9g.34517374G>TCA373266724DNAI1c.1908G>T (p.Gln636His)
c.329+2635G>T
c.696G>T
n.484G>T
c.1920G>T (p.Gln640His)
c.1377G>T (p.Gln459His)
c.1662G>T (p.Gln554His)
c.1650G>T (p.Gln550His)
n.2011G>T
9g.34517375T>ACA373266728DNAI1c.1909T>A (p.Phe637Ile)
c.329+2636T>A
c.697T>A
n.485T>A
c.1921T>A (p.Phe641Ile)
c.1378T>A (p.Phe460Ile)
c.1663T>A (p.Phe555Ile)
c.1651T>A (p.Phe551Ile)
n.2012T>A
9g.34517375T>CCA373266730DNAI1c.1909T>C (p.Phe637Leu)
c.329+2636T>C
c.697T>C
n.485T>C
c.1921T>C (p.Phe641Leu)
c.1378T>C (p.Phe460Leu)
c.1663T>C (p.Phe555Leu)
c.1651T>C (p.Phe551Leu)
n.2012T>C
9g.34517375T>GCA373266726DNAI1c.1909T>G (p.Phe637Val)
c.329+2636T>G
c.697T>G
n.485T>G
c.1921T>G (p.Phe641Val)
c.1378T>G (p.Phe460Val)
c.1663T>G (p.Phe555Val)
c.1651T>G (p.Phe551Val)
n.2012T>G
9g.34517376T>ACA373266734DNAI1c.1910T>A (p.Phe637Tyr)
c.329+2637T>A
c.698T>A
n.486T>A
c.1922T>A (p.Phe641Tyr)
c.1379T>A (p.Phe460Tyr)
c.1664T>A (p.Phe555Tyr)
c.1652T>A (p.Phe551Tyr)
n.2013T>A
9g.34517376T>CCA373266732DNAI1c.1910T>C (p.Phe637Ser)
c.329+2637T>C
c.698T>C
n.486T>C
c.1922T>C (p.Phe641Ser)
c.1379T>C (p.Phe460Ser)
c.1664T>C (p.Phe555Ser)
c.1652T>C (p.Phe551Ser)
n.2013T>C
9g.34517376T>GCA373266736DNAI1c.1910T>G (p.Phe637Cys)
c.329+2637T>G
c.698T>G
n.486T>G
c.1922T>G (p.Phe641Cys)
c.1379T>G (p.Phe460Cys)
c.1664T>G (p.Phe555Cys)
c.1652T>G (p.Phe551Cys)
n.2013T>G
9g.34517377C>ACA373266738DNAI1c.1911C>A (p.Phe637Leu)
c.329+2638C>A
c.699C>A
n.487C>A
c.1923C>A (p.Phe641Leu)
c.1380C>A (p.Phe460Leu)
c.1665C>A (p.Phe555Leu)
c.1653C>A (p.Phe551Leu)
n.2014C>A
9g.34517377C=CA1845591901DNAI1c.1911C= (p.Phe637=)
c.329+2638C=
c.699C=
n.487C=
c.1923C= (p.Phe641=)
c.1380C= (p.Phe460=)
c.1665C= (p.Phe555=)
c.1653C= (p.Phe551=)
n.2014C=
9g.34517377C>GCA373266740DNAI1c.1911C>G (p.Phe637Leu)
c.329+2638C>G
c.699C>G
n.487C>G
c.1923C>G (p.Phe641Leu)
c.1380C>G (p.Phe460Leu)
c.1665C>G (p.Phe555Leu)
c.1653C>G (p.Phe551Leu)
n.2014C>G
9g.34517377C>TCA464398368DNAI1c.1911C>T (p.Phe637=)
c.329+2638C>T
c.699C>T
n.487C>T
c.1923C>T (p.Phe641=)
c.1380C>T (p.Phe460=)
c.1665C>T (p.Phe555=)
c.1653C>T (p.Phe551=)
n.2014C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.34517378A>CCA373266741DNAI1c.1912A>C (p.Asn638His)
c.329+2639A>C
c.700A>C
n.488A>C
c.1924A>C (p.Asn642His)
c.1381A>C (p.Asn461His)
c.1666A>C (p.Asn556His)
c.1654A>C (p.Asn552His)
n.2015A>C
9g.34517378A>GCA373266742DNAI1c.1912A>G (p.Asn638Asp)
c.329+2639A>G
c.700A>G
n.488A>G
c.1924A>G (p.Asn642Asp)
c.1381A>G (p.Asn461Asp)
c.1666A>G (p.Asn556Asp)
c.1654A>G (p.Asn552Asp)
n.2015A>G
9g.34517378A>TCA373266744DNAI1c.1912A>T (p.Asn638Tyr)
c.329+2639A>T
c.700A>T
n.488A>T
c.1924A>T (p.Asn642Tyr)
c.1381A>T (p.Asn461Tyr)
c.1666A>T (p.Asn556Tyr)
c.1654A>T (p.Asn552Tyr)
n.2015A>T
9g.34517379A=CA1845591908DNAI1c.1913A= (p.Asn638=)
c.329+2640A=
c.701A=
n.489A=
c.1925A= (p.Asn642=)
c.1382A= (p.Asn461=)
c.1667A= (p.Asn556=)
c.1655A= (p.Asn552=)
n.2016A=
9g.34517379A>CCA373266746DNAI1c.1913A>C (p.Asn638Thr)
c.329+2640A>C
c.701A>C
n.489A>C
c.1925A>C (p.Asn642Thr)
c.1382A>C (p.Asn461Thr)
c.1667A>C (p.Asn556Thr)
c.1655A>C (p.Asn552Thr)
n.2016A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517379A>GCA5034578DNAI1c.1913A>G (p.Asn638Ser)
c.329+2640A>G
c.701A>G
n.489A>G
c.1925A>G (p.Asn642Ser)
c.1382A>G (p.Asn461Ser)
c.1667A>G (p.Asn556Ser)
c.1655A>G (p.Asn552Ser)
n.2016A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517379A>TCA373266747DNAI1c.1913A>T (p.Asn638Ile)
c.329+2640A>T
c.701A>T
n.489A>T
c.1925A>T (p.Asn642Ile)
c.1382A>T (p.Asn461Ile)
c.1667A>T (p.Asn556Ile)
c.1655A>T (p.Asn552Ile)
n.2016A>T
9g.34517380T>ACA373266749DNAI1c.1914T>A (p.Asn638Lys)
c.329+2641T>A
c.702T>A
n.490T>A
c.1926T>A (p.Asn642Lys)
c.1383T>A (p.Asn461Lys)
c.1668T>A (p.Asn556Lys)
c.1656T>A (p.Asn552Lys)
n.2017T>A
9g.34517380T>CCA464398369DNAI1c.1914T>C (p.Asn638=)
c.329+2641T>C
c.702T>C
n.490T>C
c.1926T>C (p.Asn642=)
c.1383T>C (p.Asn461=)
c.1668T>C (p.Asn556=)
c.1656T>C (p.Asn552=)
n.2017T>C
9g.34517380T>GCA373266751DNAI1c.1914T>G (p.Asn638Lys)
c.329+2641T>G
c.702T>G
n.490T>G
c.1926T>G (p.Asn642Lys)
c.1383T>G (p.Asn461Lys)
c.1668T>G (p.Asn556Lys)
c.1656T>G (p.Asn552Lys)
n.2017T>G
9g.34517381C>ACA373266753DNAI1c.1915C>A (p.Leu639Ile)
c.329+2642C>A
c.703C>A
n.491C>A
c.1927C>A (p.Leu643Ile)
c.1384C>A (p.Leu462Ile)
c.1669C>A (p.Leu557Ile)
c.1657C>A (p.Leu553Ile)
n.2018C>A
9g.34517381C=CA1845591917DNAI1c.1915C= (p.Leu639=)
c.329+2642C=
c.703C=
n.491C=
c.1927C= (p.Leu643=)
c.1384C= (p.Leu462=)
c.1669C= (p.Leu557=)
c.1657C= (p.Leu553=)
n.2018C=
9g.34517381C>GCA373266755DNAI1c.1915C>G (p.Leu639Val)
c.329+2642C>G
c.703C>G
n.491C>G
c.1927C>G (p.Leu643Val)
c.1384C>G (p.Leu462Val)
c.1669C>G (p.Leu557Val)
c.1657C>G (p.Leu553Val)
n.2018C>G
9g.34517381C>TCA373266757DNAI1c.1915C>T (p.Leu639Phe)
c.329+2642C>T
c.703C>T
n.491C>T
c.1927C>T (p.Leu643Phe)
c.1384C>T (p.Leu462Phe)
c.1669C>T (p.Leu557Phe)
c.1657C>T (p.Leu553Phe)
n.2018C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517382T>ACA373266763DNAI1c.1916T>A (p.Leu639His)
c.329+2643T>A
c.704T>A
n.492T>A
c.1928T>A (p.Leu643His)
c.1385T>A (p.Leu462His)
c.1670T>A (p.Leu557His)
c.1658T>A (p.Leu553His)
n.2019T>A
9g.34517382T>CCA373266759DNAI1c.1916T>C (p.Leu639Pro)
c.329+2643T>C
c.704T>C
n.492T>C
c.1928T>C (p.Leu643Pro)
c.1385T>C (p.Leu462Pro)
c.1670T>C (p.Leu557Pro)
c.1658T>C (p.Leu553Pro)
n.2019T>C
9g.34517382T>GCA373266762DNAI1c.1916T>G (p.Leu639Arg)
c.329+2643T>G
c.704T>G
n.492T>G
c.1928T>G (p.Leu643Arg)
c.1385T>G (p.Leu462Arg)
c.1670T>G (p.Leu557Arg)
c.1658T>G (p.Leu553Arg)
n.2019T>G
 gnomAD v4
9g.34517387_34517398dupCA863462888DNAI1c.1921_1932dup (p.Ile644_Ile645insHisProIleIle)
c.329+2648_329+2659dup
c.709_720dup
n.497_508dup
c.1933_1944dup (p.Ile648_Ile649insHisProIleIle)
c.1390_1401dup (p.Ile467_Ile468insHisProIleIle)
c.1675_1686dup (p.Ile562_Ile563insHisProIleIle)
c.1663_1674dup (p.Ile558_Ile559insHisProIleIle)
n.2024_2035dup
 dbSNP gnomAD v3 gnomAD v4
9g.34517383C>ACA464398370DNAI1c.1917C>A (p.Leu639=)
c.329+2644C>A
c.705C>A
n.493C>A
c.1929C>A (p.Leu643=)
c.1386C>A (p.Leu462=)
c.1671C>A (p.Leu557=)
c.1659C>A (p.Leu553=)
n.2020C>A
9g.34517383C=CA1845591925DNAI1c.1917C= (p.Leu639=)
c.329+2644C=
c.705C=
n.493C=
c.1929C= (p.Leu643=)
c.1386C= (p.Leu462=)
c.1671C= (p.Leu557=)
c.1659C= (p.Leu553=)
n.2020C=
9g.34517383C>GCA464398371DNAI1c.1917C>G (p.Leu639=)
c.329+2644C>G
c.705C>G
n.493C>G
c.1929C>G (p.Leu643=)
c.1386C>G (p.Leu462=)
c.1671C>G (p.Leu557=)
c.1659C>G (p.Leu553=)
n.2020C>G
9g.34517383C>TCA464398372DNAI1c.1917C>T (p.Leu639=)
c.329+2644C>T
c.705C>T
n.493C>T
c.1929C>T (p.Leu643=)
c.1386C>T (p.Leu462=)
c.1671C>T (p.Leu557=)
c.1659C>T (p.Leu553=)
n.2020C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.34517384A=CA1845591928DNAI1c.1918A= (p.Ile640=)
c.329+2645A=
c.706A=
n.494A=
c.1930A= (p.Ile644=)
c.1387A= (p.Ile463=)
c.1672A= (p.Ile558=)
c.1660A= (p.Ile554=)
n.2021A=
9g.34517384A>CCA373266766DNAI1c.1918A>C (p.Ile640Leu)
c.329+2645A>C
c.706A>C
n.494A>C
c.1930A>C (p.Ile644Leu)
c.1387A>C (p.Ile463Leu)
c.1672A>C (p.Ile558Leu)
c.1660A>C (p.Ile554Leu)
n.2021A>C
 dbSNP gnomAD v4
9g.34517384A>GCA373266768DNAI1c.1918A>G (p.Ile640Val)
c.329+2645A>G
c.706A>G
n.494A>G
c.1930A>G (p.Ile644Val)
c.1387A>G (p.Ile463Val)
c.1672A>G (p.Ile558Val)
c.1660A>G (p.Ile554Val)
n.2021A>G
9g.34517384A>TCA373266769DNAI1c.1918A>T (p.Ile640Phe)
c.329+2645A>T
c.706A>T
n.494A>T
c.1930A>T (p.Ile644Phe)
c.1387A>T (p.Ile463Phe)
c.1672A>T (p.Ile558Phe)
c.1660A>T (p.Ile554Phe)
n.2021A>T
9g.34517385T>ACA373266772DNAI1c.1919T>A (p.Ile640Asn)
c.329+2646T>A
c.707T>A
n.495T>A
c.1931T>A (p.Ile644Asn)
c.1388T>A (p.Ile463Asn)
c.1673T>A (p.Ile558Asn)
c.1661T>A (p.Ile554Asn)
n.2022T>A
9g.34517385T>CCA373266774DNAI1c.1919T>C (p.Ile640Thr)
c.329+2646T>C
c.707T>C
n.495T>C
c.1931T>C (p.Ile644Thr)
c.1388T>C (p.Ile463Thr)
c.1673T>C (p.Ile558Thr)
c.1661T>C (p.Ile554Thr)
n.2022T>C
9g.34517385T>GCA373266775DNAI1c.1919T>G (p.Ile640Ser)
c.329+2646T>G
c.707T>G
n.495T>G
c.1931T>G (p.Ile644Ser)
c.1388T>G (p.Ile463Ser)
c.1673T>G (p.Ile558Ser)
c.1661T>G (p.Ile554Ser)
n.2022T>G
9g.34517386C>ACA464398373DNAI1c.1920C>A (p.Ile640=)
c.329+2647C>A
c.708C>A
n.496C>A
c.1932C>A (p.Ile644=)
c.1389C>A (p.Ile463=)
c.1674C>A (p.Ile558=)
c.1662C>A (p.Ile554=)
n.2023C>A
 ClinVar dbSNP
9g.34517386C=CA1845591933DNAI1c.1920C= (p.Ile640=)
c.329+2647C=
c.708C=
n.496C=
c.1932C= (p.Ile644=)
c.1389C= (p.Ile463=)
c.1674C= (p.Ile558=)
c.1662C= (p.Ile554=)
n.2023C=
9g.34517386C>GCA373266777DNAI1c.1920C>G (p.Ile640Met)
c.329+2647C>G
c.708C>G
n.496C>G
c.1932C>G (p.Ile644Met)
c.1389C>G (p.Ile463Met)
c.1674C>G (p.Ile558Met)
c.1662C>G (p.Ile554Met)
n.2023C>G
9g.34517386C>TCA5034579DNAI1c.1920C>T (p.Ile640=)
c.329+2647C>T
c.708C>T
n.496C>T
c.1932C>T (p.Ile644=)
c.1389C>T (p.Ile463=)
c.1674C>T (p.Ile558=)
c.1662C>T (p.Ile554=)
n.2023C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517387C>ACA373266780DNAI1c.1921C>A (p.His641Asn)
c.329+2648C>A
c.709C>A
n.497C>A
c.1933C>A (p.His645Asn)
c.1390C>A (p.His464Asn)
c.1675C>A (p.His559Asn)
c.1663C>A (p.His555Asn)
n.2024C>A
9g.34517387C=CA1845591937DNAI1c.1921C= (p.His641=)
c.329+2648C=
c.709C=
n.497C=
c.1933C= (p.His645=)
c.1390C= (p.His464=)
c.1675C= (p.His559=)
c.1663C= (p.His555=)
n.2024C=
9g.34517387C>GCA373266781DNAI1c.1921C>G (p.His641Asp)
c.329+2648C>G
c.709C>G
n.497C>G
c.1933C>G (p.His645Asp)
c.1390C>G (p.His464Asp)
c.1675C>G (p.His559Asp)
c.1663C>G (p.His555Asp)
n.2024C>G
9g.34517387C>TCA5034580DNAI1c.1921C>T (p.His641Tyr)
c.329+2648C>T
c.709C>T
n.497C>T
c.1933C>T (p.His645Tyr)
c.1390C>T (p.His464Tyr)
c.1675C>T (p.His559Tyr)
c.1663C>T (p.His555Tyr)
n.2024C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517388A>CCA373266786DNAI1c.1922A>C (p.His641Pro)
c.329+2649A>C
c.710A>C
n.498A>C
c.1934A>C (p.His645Pro)
c.1391A>C (p.His464Pro)
c.1676A>C (p.His559Pro)
c.1664A>C (p.His555Pro)
n.2025A>C
9g.34517388A>GCA373266785DNAI1c.1922A>G (p.His641Arg)
c.329+2649A>G
c.710A>G
n.498A>G
c.1934A>G (p.His645Arg)
c.1391A>G (p.His464Arg)
c.1676A>G (p.His559Arg)
c.1664A>G (p.His555Arg)
n.2025A>G
9g.34517388A>TCA373266784DNAI1c.1922A>T (p.His641Leu)
c.329+2649A>T
c.710A>T
n.498A>T
c.1934A>T (p.His645Leu)
c.1391A>T (p.His464Leu)
c.1676A>T (p.His559Leu)
c.1664A>T (p.His555Leu)
n.2025A>T
9g.34517388_34517389delinsACCA1845591950DNAI1c.1922_1923delinsAC (p.His641=)
c.329+2649_329+2650delinsAC
c.710_711delinsAC
n.498_499delinsAC
c.1934_1935delinsAC (p.His645=)
c.1391_1392delinsAC (p.His464=)
c.1676_1677delinsAC (p.His559=)
c.1664_1665delinsAC (p.His555=)
n.2025_2026delinsAC
9g.34517389C>ACA373266787DNAI1c.1923C>A (p.His641Gln)
c.329+2650C>A
c.711C>A
n.499C>A
c.1935C>A (p.His645Gln)
c.1392C>A (p.His464Gln)
c.1677C>A (p.His559Gln)
c.1665C>A (p.His555Gln)
n.2026C>A
9g.34517389C=CA1845591961DNAI1c.1923C= (p.His641=)
c.329+2650C=
c.711C=
n.499C=
c.1935C= (p.His645=)
c.1392C= (p.His464=)
c.1677C= (p.His559=)
c.1665C= (p.His555=)
n.2026C=
9g.34517389C>GCA373266789DNAI1c.1923C>G (p.His641Gln)
c.329+2650C>G
c.711C>G
n.499C>G
c.1935C>G (p.His645Gln)
c.1392C>G (p.His464Gln)
c.1677C>G (p.His559Gln)
c.1665C>G (p.His555Gln)
n.2026C>G
9g.34517389C>TCA5034581DNAI1c.1923C>T (p.His641=)
c.329+2650C>T
c.711C>T
n.499C>T
c.1935C>T (p.His645=)
c.1392C>T (p.His464=)
c.1677C>T (p.His559=)
c.1665C>T (p.His555=)
n.2026C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517391_34517392dupCA2573106194DNAI1c.1925_1926dup (p.Ile643ProfsTer?)
c.329+2652_329+2653dup
c.713_714dup
n.501_502dup
c.1937_1938dup (p.Ile647ProfsTer?)
c.1394_1395dup (p.Ile466ProfsTer?)
c.1679_1680dup (p.Ile561ProfsTer?)
c.1667_1668dup (p.Ile557ProfsTer?)
n.2028_2029dup
9g.34517392delCA1845591965DNAI1c.1926del (p.Ile643SerfsTer?)
c.329+2653del
c.714del
n.502del
c.1938del (p.Ile647SerfsTer?)
c.1395del (p.Ile466SerfsTer?)
c.1680del (p.Ile561SerfsTer?)
c.1668del (p.Ile557SerfsTer?)
n.2029del
 dbSNP
9g.34517390_34517407dupCA2689798675DNAI1c.1924_1941dup (p.Gly647_Asp648insProIleIleIleValGly)
c.329+2651_329+2668dup
c.712_729dup
n.500_517dup
c.1936_1953dup (p.Gly651_Asp652insProIleIleIleValGly)
c.1393_1410dup (p.Gly470_Asp471insProIleIleIleValGly)
c.1678_1695dup (p.Gly565_Asp566insProIleIleIleValGly)
c.1666_1683dup (p.Gly561_Asp562insProIleIleIleValGly)
n.2027_2044dup
 gnomAD v4
9g.34517390C>ACA373266791DNAI1c.1924C>A (p.Pro642Thr)
c.329+2651C>A
c.712C>A
n.500C>A
c.1936C>A (p.Pro646Thr)
c.1393C>A (p.Pro465Thr)
c.1678C>A (p.Pro560Thr)
c.1666C>A (p.Pro556Thr)
n.2027C>A
9g.34517390C=CA1845591971DNAI1c.1924C= (p.Pro642=)
c.329+2651C=
c.712C=
n.500C=
c.1936C= (p.Pro646=)
c.1393C= (p.Pro465=)
c.1678C= (p.Pro560=)
c.1666C= (p.Pro556=)
n.2027C=
9g.34517390C>GCA373266793DNAI1c.1924C>G (p.Pro642Ala)
c.329+2651C>G
c.712C>G
n.500C>G
c.1936C>G (p.Pro646Ala)
c.1393C>G (p.Pro465Ala)
c.1678C>G (p.Pro560Ala)
c.1666C>G (p.Pro556Ala)
n.2027C>G
 dbSNP gnomAD v3 gnomAD v4
9g.34517390C>TCA373266795DNAI1c.1924C>T (p.Pro642Ser)
c.329+2651C>T
c.712C>T
n.500C>T
c.1936C>T (p.Pro646Ser)
c.1393C>T (p.Pro465Ser)
c.1678C>T (p.Pro560Ser)
c.1666C>T (p.Pro556Ser)
n.2027C>T
9g.34517391C>ACA373266797DNAI1c.1925C>A (p.Pro642His)
c.329+2652C>A
c.713C>A
n.501C>A
c.1937C>A (p.Pro646His)
c.1394C>A (p.Pro465His)
c.1679C>A (p.Pro560His)
c.1667C>A (p.Pro556His)
n.2028C>A
9g.34517391C=CA1845591977DNAI1c.1925C= (p.Pro642=)
c.329+2652C=
c.713C=
n.501C=
c.1937C= (p.Pro646=)
c.1394C= (p.Pro465=)
c.1679C= (p.Pro560=)
c.1667C= (p.Pro556=)
n.2028C=
9g.34517391C>GCA5034582DNAI1c.1925C>G (p.Pro642Arg)
c.329+2652C>G
c.713C>G
n.501C>G
c.1937C>G (p.Pro646Arg)
c.1394C>G (p.Pro465Arg)
c.1679C>G (p.Pro560Arg)
c.1667C>G (p.Pro556Arg)
n.2028C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517391C>TCA373266798DNAI1c.1925C>T (p.Pro642Leu)
c.329+2652C>T
c.713C>T
n.501C>T
c.1937C>T (p.Pro646Leu)
c.1394C>T (p.Pro465Leu)
c.1679C>T (p.Pro560Leu)
c.1667C>T (p.Pro556Leu)
n.2028C>T

Number of alleles fetched