Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
9g.34517392C>ACA464398376DNAI1c.1926C>A (p.Pro642=)
c.329+2653C>A
c.714C>A
n.502C>A
c.1938C>A (p.Pro646=)
c.1395C>A (p.Pro465=)
c.1680C>A (p.Pro560=)
c.1668C>A (p.Pro556=)
n.2029C>A
 ClinVar dbSNP
9g.34517392C>GCA464398374DNAI1c.1926C>G (p.Pro642=)
c.329+2653C>G
c.714C>G
n.502C>G
c.1938C>G (p.Pro646=)
c.1395C>G (p.Pro465=)
c.1680C>G (p.Pro560=)
c.1668C>G (p.Pro556=)
n.2029C>G
9g.34517392C>TCA464398375DNAI1c.1926C>T (p.Pro642=)
c.329+2653C>T
c.714C>T
n.502C>T
c.1938C>T (p.Pro646=)
c.1395C>T (p.Pro465=)
c.1680C>T (p.Pro560=)
c.1668C>T (p.Pro556=)
n.2029C>T
9g.34517393A=CA1845591987DNAI1c.1927A= (p.Ile643=)
c.329+2654A=
c.715A=
n.503A=
c.1939A= (p.Ile647=)
c.1396A= (p.Ile466=)
c.1681A= (p.Ile561=)
c.1669A= (p.Ile557=)
n.2030A=
9g.34517393A>CCA373266800DNAI1c.1927A>C (p.Ile643Leu)
c.329+2654A>C
c.715A>C
n.503A>C
c.1939A>C (p.Ile647Leu)
c.1396A>C (p.Ile466Leu)
c.1681A>C (p.Ile561Leu)
c.1669A>C (p.Ile557Leu)
n.2030A>C
9g.34517393A>GCA373266802DNAI1c.1927A>G (p.Ile643Val)
c.329+2654A>G
c.715A>G
n.503A>G
c.1939A>G (p.Ile647Val)
c.1396A>G (p.Ile466Val)
c.1681A>G (p.Ile561Val)
c.1669A>G (p.Ile557Val)
n.2030A>G
 dbSNP gnomAD v3 gnomAD v4
9g.34517393A>TCA373266804DNAI1c.1927A>T (p.Ile643Phe)
c.329+2654A>T
c.715A>T
n.503A>T
c.1939A>T (p.Ile647Phe)
c.1396A>T (p.Ile466Phe)
c.1681A>T (p.Ile561Phe)
c.1669A>T (p.Ile557Phe)
n.2030A>T
9g.34517394T>ACA373266810DNAI1c.1928T>A (p.Ile643Asn)
c.329+2655T>A
c.716T>A
n.504T>A
c.1940T>A (p.Ile647Asn)
c.1397T>A (p.Ile466Asn)
c.1682T>A (p.Ile561Asn)
c.1670T>A (p.Ile557Asn)
n.2031T>A
9g.34517394T>CCA5034583DNAI1c.1928T>C (p.Ile643Thr)
c.329+2655T>C
c.716T>C
n.504T>C
c.1940T>C (p.Ile647Thr)
c.1397T>C (p.Ile466Thr)
c.1682T>C (p.Ile561Thr)
c.1670T>C (p.Ile557Thr)
n.2031T>C
 dbSNP ExAC gnomAD v2
9g.34517394T>GCA373266806DNAI1c.1928T>G (p.Ile643Ser)
c.329+2655T>G
c.716T>G
n.504T>G
c.1940T>G (p.Ile647Ser)
c.1397T>G (p.Ile466Ser)
c.1682T>G (p.Ile561Ser)
c.1670T>G (p.Ile557Ser)
n.2031T>G
9g.34517394T=CA1845591994DNAI1c.1928T= (p.Ile643=)
c.329+2655T=
c.716T=
n.504T=
c.1940T= (p.Ile647=)
c.1397T= (p.Ile466=)
c.1682T= (p.Ile561=)
c.1670T= (p.Ile557=)
n.2031T=
9g.34517395C>ACA5034584DNAI1c.1929C>A (p.Ile643=)
c.329+2656C>A
c.717C>A
n.505C>A
c.1941C>A (p.Ile647=)
c.1398C>A (p.Ile466=)
c.1683C>A (p.Ile561=)
c.1671C>A (p.Ile557=)
n.2032C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517395C=CA1845592005DNAI1c.1929C= (p.Ile643=)
c.329+2656C=
c.717C=
n.505C=
c.1941C= (p.Ile647=)
c.1398C= (p.Ile466=)
c.1683C= (p.Ile561=)
c.1671C= (p.Ile557=)
n.2032C=
9g.34517395C>GCA373266811DNAI1c.1929C>G (p.Ile643Met)
c.329+2656C>G
c.717C>G
n.505C>G
c.1941C>G (p.Ile647Met)
c.1398C>G (p.Ile466Met)
c.1683C>G (p.Ile561Met)
c.1671C>G (p.Ile557Met)
n.2032C>G
9g.34517395C>TCA464398377DNAI1c.1929C>T (p.Ile643=)
c.329+2656C>T
c.717C>T
n.505C>T
c.1941C>T (p.Ile647=)
c.1398C>T (p.Ile466=)
c.1683C>T (p.Ile561=)
c.1671C>T (p.Ile557=)
n.2032C>T
9g.34517396A=CA1845592017DNAI1c.1930A= (p.Ile644=)
c.329+2657A=
c.718A=
n.506A=
c.1942A= (p.Ile648=)
c.1399A= (p.Ile467=)
c.1684A= (p.Ile562=)
c.1672A= (p.Ile558=)
n.2033A=
9g.34517396A>CCA373266814DNAI1c.1930A>C (p.Ile644Leu)
c.329+2657A>C
c.718A>C
n.506A>C
c.1942A>C (p.Ile648Leu)
c.1399A>C (p.Ile467Leu)
c.1684A>C (p.Ile562Leu)
c.1672A>C (p.Ile558Leu)
n.2033A>C
9g.34517396A>GCA373266815DNAI1c.1930A>G (p.Ile644Val)
c.329+2657A>G
c.718A>G
n.506A>G
c.1942A>G (p.Ile648Val)
c.1399A>G (p.Ile467Val)
c.1684A>G (p.Ile562Val)
c.1672A>G (p.Ile558Val)
n.2033A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517396A>TCA5034585DNAI1c.1930A>T (p.Ile644Phe)
c.329+2657A>T
c.718A>T
n.506A>T
c.1942A>T (p.Ile648Phe)
c.1399A>T (p.Ile467Phe)
c.1684A>T (p.Ile562Phe)
c.1672A>T (p.Ile558Phe)
n.2033A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517397T>ACA373266818DNAI1c.1931T>A (p.Ile644Asn)
c.329+2658T>A
c.719T>A
n.507T>A
c.1943T>A (p.Ile648Asn)
c.1400T>A (p.Ile467Asn)
c.1685T>A (p.Ile562Asn)
c.1673T>A (p.Ile558Asn)
n.2034T>A
9g.34517397T>CCA373266821DNAI1c.1931T>C (p.Ile644Thr)
c.329+2658T>C
c.719T>C
n.507T>C
c.1943T>C (p.Ile648Thr)
c.1400T>C (p.Ile467Thr)
c.1685T>C (p.Ile562Thr)
c.1673T>C (p.Ile558Thr)
n.2034T>C
 dbSNP gnomAD v3 gnomAD v4
9g.34517397T>GCA373266822DNAI1c.1931T>G (p.Ile644Ser)
c.329+2658T>G
c.719T>G
n.507T>G
c.1943T>G (p.Ile648Ser)
c.1400T>G (p.Ile467Ser)
c.1685T>G (p.Ile562Ser)
c.1673T>G (p.Ile558Ser)
n.2034T>G
9g.34517397T=CA1845592025DNAI1c.1931T= (p.Ile644=)
c.329+2658T=
c.719T=
n.507T=
c.1943T= (p.Ile648=)
c.1400T= (p.Ile467=)
c.1685T= (p.Ile562=)
c.1673T= (p.Ile558=)
n.2034T=
9g.34517398C>ACA464398378DNAI1c.1932C>A (p.Ile644=)
c.329+2659C>A
c.720C>A
n.508C>A
c.1944C>A (p.Ile648=)
c.1401C>A (p.Ile467=)
c.1686C>A (p.Ile562=)
c.1674C>A (p.Ile558=)
n.2035C>A
9g.34517398C>GCA373266823DNAI1c.1932C>G (p.Ile644Met)
c.329+2659C>G
c.720C>G
n.508C>G
c.1944C>G (p.Ile648Met)
c.1401C>G (p.Ile467Met)
c.1686C>G (p.Ile562Met)
c.1674C>G (p.Ile558Met)
n.2035C>G
9g.34517398C>TCA464398379DNAI1c.1932C>T (p.Ile644=)
c.329+2659C>T
c.720C>T
n.508C>T
c.1944C>T (p.Ile648=)
c.1401C>T (p.Ile467=)
c.1686C>T (p.Ile562=)
c.1674C>T (p.Ile558=)
n.2035C>T
9g.34517398_34517401delinsCATTCA1845592032DNAI1c.1932_1935delinsCATT (p.Ile644=)
c.329+2659_329+2662delinsCATT
c.720_723delinsCATT
n.508_511delinsCATT
c.1944_1947delinsCATT (p.Ile648=)
c.1401_1404delinsCATT (p.Ile467=)
c.1686_1689delinsCATT (p.Ile562=)
c.1674_1677delinsCATT (p.Ile558=)
n.2035_2038delinsCATT
9g.34517399A=CA1845592037DNAI1c.1933A= (p.Ile645=)
c.329+2660A=
c.721A=
n.509A=
c.1945A= (p.Ile649=)
c.1402A= (p.Ile468=)
c.1687A= (p.Ile563=)
c.1675A= (p.Ile559=)
n.2036A=
9g.34517399A>CCA373266826DNAI1c.1933A>C (p.Ile645Leu)
c.329+2660A>C
c.721A>C
n.509A>C
c.1945A>C (p.Ile649Leu)
c.1402A>C (p.Ile468Leu)
c.1687A>C (p.Ile563Leu)
c.1675A>C (p.Ile559Leu)
n.2036A>C
9g.34517399A>GCA373266828DNAI1c.1933A>G (p.Ile645Val)
c.329+2660A>G
c.721A>G
n.509A>G
c.1945A>G (p.Ile649Val)
c.1402A>G (p.Ile468Val)
c.1687A>G (p.Ile563Val)
c.1675A>G (p.Ile559Val)
n.2036A>G
 dbSNP gnomAD v2 gnomAD v4
9g.34517399A>TCA373266829DNAI1c.1933A>T (p.Ile645Phe)
c.329+2660A>T
c.721A>T
n.509A>T
c.1945A>T (p.Ile649Phe)
c.1402A>T (p.Ile468Phe)
c.1687A>T (p.Ile563Phe)
c.1675A>T (p.Ile559Phe)
n.2036A>T
9g.34517399_34517401delCA587567987DNAI1c.1933_1935del (p.Ile645del)
c.329+2660_329+2662del
c.721_723del
n.509_511del
c.1945_1947del (p.Ile649del)
c.1402_1404del (p.Ile468del)
c.1687_1689del (p.Ile563del)
c.1675_1677del (p.Ile559del)
n.2036_2038del
 dbSNP gnomAD v2 gnomAD v4
9g.34517400T>ACA373266834DNAI1c.1934T>A (p.Ile645Asn)
c.329+2661T>A
c.722T>A
n.510T>A
c.1946T>A (p.Ile649Asn)
c.1403T>A (p.Ile468Asn)
c.1688T>A (p.Ile563Asn)
c.1676T>A (p.Ile559Asn)
n.2037T>A
9g.34517400T>CCA5034586DNAI1c.1934T>C (p.Ile645Thr)
c.329+2661T>C
c.722T>C
n.510T>C
c.1946T>C (p.Ile649Thr)
c.1403T>C (p.Ile468Thr)
c.1688T>C (p.Ile563Thr)
c.1676T>C (p.Ile559Thr)
n.2037T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517400T>GCA373266831DNAI1c.1934T>G (p.Ile645Ser)
c.329+2661T>G
c.722T>G
n.510T>G
c.1946T>G (p.Ile649Ser)
c.1403T>G (p.Ile468Ser)
c.1688T>G (p.Ile563Ser)
c.1676T>G (p.Ile559Ser)
n.2037T>G
9g.34517400T=CA1845592048DNAI1c.1934T= (p.Ile645=)
c.329+2661T=
c.722T=
n.510T=
c.1946T= (p.Ile649=)
c.1403T= (p.Ile468=)
c.1688T= (p.Ile563=)
c.1676T= (p.Ile559=)
n.2037T=
9g.34517401T>ACA464398380DNAI1c.1935T>A (p.Ile645=)
c.329+2662T>A
c.723T>A
n.511T>A
c.1947T>A (p.Ile649=)
c.1404T>A (p.Ile468=)
c.1689T>A (p.Ile563=)
c.1677T>A (p.Ile559=)
n.2038T>A
 gnomAD v4
9g.34517401T>CCA464398381DNAI1c.1935T>C (p.Ile645=)
c.329+2662T>C
c.723T>C
n.511T>C
c.1947T>C (p.Ile649=)
c.1404T>C (p.Ile468=)
c.1689T>C (p.Ile563=)
c.1677T>C (p.Ile559=)
n.2038T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517401T>GCA373266836DNAI1c.1935T>G (p.Ile645Met)
c.329+2662T>G
c.723T>G
n.511T>G
c.1947T>G (p.Ile649Met)
c.1404T>G (p.Ile468Met)
c.1689T>G (p.Ile563Met)
c.1677T>G (p.Ile559Met)
n.2038T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517401T=CA1845592054DNAI1c.1935T= (p.Ile645=)
c.329+2662T=
c.723T=
n.511T=
c.1947T= (p.Ile649=)
c.1404T= (p.Ile468=)
c.1689T= (p.Ile563=)
c.1677T= (p.Ile559=)
n.2038T=
9g.34517402G>ACA373266841DNAI1c.1936G>A (p.Val646Met)
c.329+2663G>A
c.724G>A
n.512G>A
c.1948G>A (p.Val650Met)
c.1405G>A (p.Val469Met)
c.1690G>A (p.Val564Met)
c.1678G>A (p.Val560Met)
n.2039G>A
9g.34517402G>CCA373266838DNAI1c.1936G>C (p.Val646Leu)
c.329+2663G>C
c.724G>C
n.512G>C
c.1948G>C (p.Val650Leu)
c.1405G>C (p.Val469Leu)
c.1690G>C (p.Val564Leu)
c.1678G>C (p.Val560Leu)
n.2039G>C
 dbSNP gnomAD v2
9g.34517402G=CA1845592087DNAI1c.1936G= (p.Val646=)
c.329+2663G=
c.724G=
n.512G=
c.1948G= (p.Val650=)
c.1405G= (p.Val469=)
c.1690G= (p.Val564=)
c.1678G= (p.Val560=)
n.2039G=
9g.34517402G>TCA373266839DNAI1c.1936G>T (p.Val646Leu)
c.329+2663G>T
c.724G>T
n.512G>T
c.1948G>T (p.Val650Leu)
c.1405G>T (p.Val469Leu)
c.1690G>T (p.Val564Leu)
c.1678G>T (p.Val560Leu)
n.2039G>T
9g.34517403T>ACA373266843DNAI1c.1937T>A (p.Val646Glu)
c.329+2664T>A
c.725T>A
n.513T>A
c.1949T>A (p.Val650Glu)
c.1406T>A (p.Val469Glu)
c.1691T>A (p.Val564Glu)
c.1679T>A (p.Val560Glu)
n.2040T>A
9g.34517403T>CCA373266845DNAI1c.1937T>C (p.Val646Ala)
c.329+2664T>C
c.725T>C
n.513T>C
c.1949T>C (p.Val650Ala)
c.1406T>C (p.Val469Ala)
c.1691T>C (p.Val564Ala)
c.1679T>C (p.Val560Ala)
n.2040T>C
 COSMIC
9g.34517403T>GCA373266846DNAI1c.1937T>G (p.Val646Gly)
c.329+2664T>G
c.725T>G
n.513T>G
c.1949T>G (p.Val650Gly)
c.1406T>G (p.Val469Gly)
c.1691T>G (p.Val564Gly)
c.1679T>G (p.Val560Gly)
n.2040T>G
9g.34517404G>ACA464398382DNAI1c.1938G>A (p.Val646=)
c.329+2665G>A
c.726G>A
n.514G>A
c.1950G>A (p.Val650=)
c.1407G>A (p.Val469=)
c.1692G>A (p.Val564=)
c.1680G>A (p.Val560=)
n.2041G>A
9g.34517404G>CCA464398383DNAI1c.1938G>C (p.Val646=)
c.329+2665G>C
c.726G>C
n.514G>C
c.1950G>C (p.Val650=)
c.1407G>C (p.Val469=)
c.1692G>C (p.Val564=)
c.1680G>C (p.Val560=)
n.2041G>C
9g.34517404G>TCA464398384DNAI1c.1938G>T (p.Val646=)
c.329+2665G>T
c.726G>T
n.514G>T
c.1950G>T (p.Val650=)
c.1407G>T (p.Val469=)
c.1692G>T (p.Val564=)
c.1680G>T (p.Val560=)
n.2041G>T
9g.34517405G>ACA373266853DNAI1c.1939G>A (p.Gly647Ser)
c.329+2666G>A
c.727G>A
n.515G>A
c.1951G>A (p.Gly651Ser)
c.1408G>A (p.Gly470Ser)
c.1693G>A (p.Gly565Ser)
c.1681G>A (p.Gly561Ser)
n.2042G>A
 gnomAD v4
9g.34517405G>CCA373266851DNAI1c.1939G>C (p.Gly647Arg)
c.329+2666G>C
c.727G>C
n.515G>C
c.1951G>C (p.Gly651Arg)
c.1408G>C (p.Gly470Arg)
c.1693G>C (p.Gly565Arg)
c.1681G>C (p.Gly561Arg)
n.2042G>C
9g.34517405G>TCA373266849DNAI1c.1939G>T (p.Gly647Cys)
c.329+2666G>T
c.727G>T
n.515G>T
c.1951G>T (p.Gly651Cys)
c.1408G>T (p.Gly470Cys)
c.1693G>T (p.Gly565Cys)
c.1681G>T (p.Gly561Cys)
n.2042G>T
9g.34517406G>ACA373266855DNAI1c.1940G>A (p.Gly647Asp)
c.329+2667G>A
c.728G>A
n.516G>A
c.1952G>A (p.Gly651Asp)
c.1409G>A (p.Gly470Asp)
c.1694G>A (p.Gly565Asp)
c.1682G>A (p.Gly561Asp)
n.2043G>A
9g.34517406G>CCA373266857DNAI1c.1940G>C (p.Gly647Ala)
c.329+2667G>C
c.728G>C
n.516G>C
c.1952G>C (p.Gly651Ala)
c.1409G>C (p.Gly470Ala)
c.1694G>C (p.Gly565Ala)
c.1682G>C (p.Gly561Ala)
n.2043G>C
9g.34517406G>TCA373266859DNAI1c.1940G>T (p.Gly647Val)
c.329+2667G>T
c.728G>T
n.516G>T
c.1952G>T (p.Gly651Val)
c.1409G>T (p.Gly470Val)
c.1694G>T (p.Gly565Val)
c.1682G>T (p.Gly561Val)
n.2043G>T
9g.34517407C>ACA464398385DNAI1c.1941C>A (p.Gly647=)
c.329+2668C>A
c.729C>A
n.517C>A
c.1953C>A (p.Gly651=)
c.1410C>A (p.Gly470=)
c.1695C>A (p.Gly565=)
c.1683C>A (p.Gly561=)
n.2044C>A
9g.34517407C=CA1845592094DNAI1c.1941C= (p.Gly647=)
c.329+2668C=
c.729C=
n.517C=
c.1953C= (p.Gly651=)
c.1410C= (p.Gly470=)
c.1695C= (p.Gly565=)
c.1683C= (p.Gly561=)
n.2044C=
9g.34517407C>GCA464398386DNAI1c.1941C>G (p.Gly647=)
c.329+2668C>G
c.729C>G
n.517C>G
c.1953C>G (p.Gly651=)
c.1410C>G (p.Gly470=)
c.1695C>G (p.Gly565=)
c.1683C>G (p.Gly561=)
n.2044C>G
9g.34517407C>TCA192653665DNAI1c.1941C>T (p.Gly647=)
c.329+2668C>T
c.729C>T
n.517C>T
c.1953C>T (p.Gly651=)
c.1410C>T (p.Gly470=)
c.1695C>T (p.Gly565=)
c.1683C>T (p.Gly561=)
n.2044C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517407_34517408insCACA2739269231DNAI1c.1941_1942insCA (p.Asp648GlnfsTer?)
c.329+2668_329+2669insCA
c.729_730insCA
n.517_518insCA
c.1953_1954insCA (p.Asp652GlnfsTer?)
c.1410_1411insCA (p.Asp471GlnfsTer?)
c.1695_1696insCA (p.Asp566GlnfsTer?)
c.1683_1684insCA (p.Asp562GlnfsTer?)
n.2044_2045insCA
 ClinVar
9g.34517408G>ACA373266861DNAI1c.1942G>A (p.Asp648Asn)
c.329+2669G>A
c.730G>A
n.518G>A
c.1954G>A (p.Asp652Asn)
c.1411G>A (p.Asp471Asn)
c.1696G>A (p.Asp566Asn)
c.1684G>A (p.Asp562Asn)
n.2045G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517408G>CCA373266863DNAI1c.1942G>C (p.Asp648His)
c.329+2669G>C
c.730G>C
n.518G>C
c.1954G>C (p.Asp652His)
c.1411G>C (p.Asp471His)
c.1696G>C (p.Asp566His)
c.1684G>C (p.Asp562His)
n.2045G>C
 gnomAD v4
9g.34517408G=CA1845592112DNAI1c.1942G= (p.Asp648=)
c.329+2669G=
c.730G=
n.518G=
c.1954G= (p.Asp652=)
c.1411G= (p.Asp471=)
c.1696G= (p.Asp566=)
c.1684G= (p.Asp562=)
n.2045G=
9g.34517408G>TCA373266864DNAI1c.1942G>T (p.Asp648Tyr)
c.329+2669G>T
c.730G>T
n.518G>T
c.1954G>T (p.Asp652Tyr)
c.1411G>T (p.Asp471Tyr)
c.1696G>T (p.Asp566Tyr)
c.1684G>T (p.Asp562Tyr)
n.2045G>T
9g.34517409A=CA1845592116DNAI1c.1943A= (p.Asp648=)
c.329+2670A=
c.731A=
n.519A=
c.1955A= (p.Asp652=)
c.1412A= (p.Asp471=)
c.1697A= (p.Asp566=)
c.1685A= (p.Asp562=)
n.2046A=
9g.34517409A>CCA373266866DNAI1c.1943A>C (p.Asp648Ala)
c.329+2670A>C
c.731A>C
n.519A>C
c.1955A>C (p.Asp652Ala)
c.1412A>C (p.Asp471Ala)
c.1697A>C (p.Asp566Ala)
c.1685A>C (p.Asp562Ala)
n.2046A>C
9g.34517409A>GCA373266869DNAI1c.1943A>G (p.Asp648Gly)
c.329+2670A>G
c.731A>G
n.519A>G
c.1955A>G (p.Asp652Gly)
c.1412A>G (p.Asp471Gly)
c.1697A>G (p.Asp566Gly)
c.1685A>G (p.Asp562Gly)
n.2046A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517409A>TCA373266868DNAI1c.1943A>T (p.Asp648Val)
c.329+2670A>T
c.731A>T
n.519A>T
c.1955A>T (p.Asp652Val)
c.1412A>T (p.Asp471Val)
c.1697A>T (p.Asp566Val)
c.1685A>T (p.Asp562Val)
n.2046A>T
9g.34517410T>ACA373266870DNAI1c.1944T>A (p.Asp648Glu)
c.329+2671T>A
c.732T>A
n.520T>A
c.1956T>A (p.Asp652Glu)
c.1413T>A (p.Asp471Glu)
c.1698T>A (p.Asp566Glu)
c.1686T>A (p.Asp562Glu)
n.2047T>A
9g.34517410T>CCA464398387DNAI1c.1944T>C (p.Asp648=)
c.329+2671T>C
c.732T>C
n.520T>C
c.1956T>C (p.Asp652=)
c.1413T>C (p.Asp471=)
c.1698T>C (p.Asp566=)
c.1686T>C (p.Asp562=)
n.2047T>C
9g.34517410T>GCA373266871DNAI1c.1944T>G (p.Asp648Glu)
c.329+2671T>G
c.732T>G
n.520T>G
c.1956T>G (p.Asp652Glu)
c.1413T>G (p.Asp471Glu)
c.1698T>G (p.Asp566Glu)
c.1686T>G (p.Asp562Glu)
n.2047T>G
9g.34517411G>ACA373266874DNAI1c.1945G>A (p.Asp649Asn)
c.329+2672G>A
c.733G>A
n.521G>A
c.1957G>A (p.Asp653Asn)
c.1414G>A (p.Asp472Asn)
c.1699G>A (p.Asp567Asn)
c.1687G>A (p.Asp563Asn)
n.2048G>A
9g.34517411G>CCA373266876DNAI1c.1945G>C (p.Asp649His)
c.329+2672G>C
c.733G>C
n.521G>C
c.1957G>C (p.Asp653His)
c.1414G>C (p.Asp472His)
c.1699G>C (p.Asp567His)
c.1687G>C (p.Asp563His)
n.2048G>C
9g.34517411G>TCA373266877DNAI1c.1945G>T (p.Asp649Tyr)
c.329+2672G>T
c.733G>T
n.521G>T
c.1957G>T (p.Asp653Tyr)
c.1414G>T (p.Asp472Tyr)
c.1699G>T (p.Asp567Tyr)
c.1687G>T (p.Asp563Tyr)
n.2048G>T
9g.34517412A>CCA373266880DNAI1c.1946A>C (p.Asp649Ala)
c.329+2673A>C
c.734A>C
n.522A>C
c.1958A>C (p.Asp653Ala)
c.1415A>C (p.Asp472Ala)
c.1700A>C (p.Asp567Ala)
c.1688A>C (p.Asp563Ala)
n.2049A>C
9g.34517412A>GCA373266882DNAI1c.1946A>G (p.Asp649Gly)
c.329+2673A>G
c.734A>G
n.522A>G
c.1958A>G (p.Asp653Gly)
c.1415A>G (p.Asp472Gly)
c.1700A>G (p.Asp567Gly)
c.1688A>G (p.Asp563Gly)
n.2049A>G
9g.34517412A>TCA373266883DNAI1c.1946A>T (p.Asp649Val)
c.329+2673A>T
c.734A>T
n.522A>T
c.1958A>T (p.Asp653Val)
c.1415A>T (p.Asp472Val)
c.1700A>T (p.Asp567Val)
c.1688A>T (p.Asp563Val)
n.2049A>T
9g.34517413C>ACA373266885DNAI1c.1947C>A (p.Asp649Glu)
c.329+2674C>A
c.735C>A
n.523C>A
c.1959C>A (p.Asp653Glu)
c.1416C>A (p.Asp472Glu)
c.1701C>A (p.Asp567Glu)
c.1689C>A (p.Asp563Glu)
n.2050C>A
9g.34517413C>GCA373266886DNAI1c.1947C>G (p.Asp649Glu)
c.329+2674C>G
c.735C>G
n.523C>G
c.1959C>G (p.Asp653Glu)
c.1416C>G (p.Asp472Glu)
c.1701C>G (p.Asp567Glu)
c.1689C>G (p.Asp563Glu)
n.2050C>G
9g.34517413C>TCA464398388DNAI1c.1947C>T (p.Asp649=)
c.329+2674C>T
c.735C>T
n.523C>T
c.1959C>T (p.Asp653=)
c.1416C>T (p.Asp472=)
c.1701C>T (p.Asp567=)
c.1689C>T (p.Asp563=)
n.2050C>T
9g.34517414C>ACA373266890DNAI1c.1948C>A (p.Arg650Ser)
c.329+2675C>A
c.736C>A
n.524C>A
c.1960C>A (p.Arg654Ser)
c.1417C>A (p.Arg473Ser)
c.1702C>A (p.Arg568Ser)
c.1690C>A (p.Arg564Ser)
n.2051C>A
9g.34517414C=CA1845592127DNAI1c.1948C= (p.Arg650=)
c.329+2675C=
c.736C=
n.524C=
c.1960C= (p.Arg654=)
c.1417C= (p.Arg473=)
c.1702C= (p.Arg568=)
c.1690C= (p.Arg564=)
n.2051C=
9g.34517414C>GCA373266888DNAI1c.1948C>G (p.Arg650Gly)
c.329+2675C>G
c.736C>G
n.524C>G
c.1960C>G (p.Arg654Gly)
c.1417C>G (p.Arg473Gly)
c.1702C>G (p.Arg568Gly)
c.1690C>G (p.Arg564Gly)
n.2051C>G
 dbSNP gnomAD v4
9g.34517414C>TCA338457DNAI1c.1948C>T (p.Arg650Cys)
c.329+2675C>T
c.736C>T
n.524C>T
c.1960C>T (p.Arg654Cys)
c.1417C>T (p.Arg473Cys)
c.1702C>T (p.Arg568Cys)
c.1690C>T (p.Arg564Cys)
n.2051C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517415G>ACA5034587DNAI1c.1949G>A (p.Arg650His)
c.329+2676G>A
c.737G>A
n.525G>A
c.1961G>A (p.Arg654His)
c.1418G>A (p.Arg473His)
c.1703G>A (p.Arg568His)
c.1691G>A (p.Arg564His)
n.2052G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.34517415G>CCA373266892DNAI1c.1949G>C (p.Arg650Pro)
c.329+2676G>C
c.737G>C
n.525G>C
c.1961G>C (p.Arg654Pro)
c.1418G>C (p.Arg473Pro)
c.1703G>C (p.Arg568Pro)
c.1691G>C (p.Arg564Pro)
n.2052G>C
9g.34517415G=CA1845592144DNAI1c.1949G= (p.Arg650=)
c.329+2676G=
c.737G=
n.525G=
c.1961G= (p.Arg654=)
c.1418G= (p.Arg473=)
c.1703G= (p.Arg568=)
c.1691G= (p.Arg564=)
n.2052G=
9g.34517415G>TCA373266894DNAI1c.1949G>T (p.Arg650Leu)
c.329+2676G>T
c.737G>T
n.525G>T
c.1961G>T (p.Arg654Leu)
c.1418G>T (p.Arg473Leu)
c.1703G>T (p.Arg568Leu)
c.1691G>T (p.Arg564Leu)
n.2052G>T
9g.34517416T>ACA464398389DNAI1c.1950T>A (p.Arg650=)
c.329+2677T>A
c.738T>A
n.526T>A
c.1962T>A (p.Arg654=)
c.1419T>A (p.Arg473=)
c.1704T>A (p.Arg568=)
c.1692T>A (p.Arg564=)
n.2053T>A
9g.34517416T>CCA464398390DNAI1c.1950T>C (p.Arg650=)
c.329+2677T>C
c.738T>C
n.526T>C
c.1962T>C (p.Arg654=)
c.1419T>C (p.Arg473=)
c.1704T>C (p.Arg568=)
c.1692T>C (p.Arg564=)
n.2053T>C
 dbSNP gnomAD v4
9g.34517416T>GCA464398391DNAI1c.1950T>G (p.Arg650=)
c.329+2677T>G
c.738T>G
n.526T>G
c.1962T>G (p.Arg654=)
c.1419T>G (p.Arg473=)
c.1704T>G (p.Arg568=)
c.1692T>G (p.Arg564=)
n.2053T>G
9g.34517416T=CA1845592154DNAI1c.1950T= (p.Arg650=)
c.329+2677T=
c.738T=
n.526T=
c.1962T= (p.Arg654=)
c.1419T= (p.Arg473=)
c.1704T= (p.Arg568=)
c.1692T= (p.Arg564=)
n.2053T=
9g.34517417G>ACA373266896DNAI1c.1951G>A (p.Gly651Arg)
c.329+2678G>A
c.739G>A
n.527G>A
c.1963G>A (p.Gly655Arg)
c.1420G>A (p.Gly474Arg)
c.1705G>A (p.Gly569Arg)
c.1693G>A (p.Gly565Arg)
n.2054G>A
 dbSNP gnomAD v3 gnomAD v4
9g.34517417G>CCA373266898DNAI1c.1951G>C (p.Gly651Arg)
c.329+2678G>C
c.739G>C
n.527G>C
c.1963G>C (p.Gly655Arg)
c.1420G>C (p.Gly474Arg)
c.1705G>C (p.Gly569Arg)
c.1693G>C (p.Gly565Arg)
n.2054G>C
9g.34517417G=CA1845592168DNAI1c.1951G= (p.Gly651=)
c.329+2678G=
c.739G=
n.527G=
c.1963G= (p.Gly655=)
c.1420G= (p.Gly474=)
c.1705G= (p.Gly569=)
c.1693G= (p.Gly565=)
n.2054G=
9g.34517417G>TCA373266900DNAI1c.1951G>T (p.Gly651Trp)
c.329+2678G>T
c.739G>T
n.527G>T
c.1963G>T (p.Gly655Trp)
c.1420G>T (p.Gly474Trp)
c.1705G>T (p.Gly569Trp)
c.1693G>T (p.Gly565Trp)
n.2054G>T
9g.34517418G>ACA373266901DNAI1c.1952G>A (p.Gly651Glu)
c.329+2679G>A
c.740G>A
n.528G>A
c.1964G>A (p.Gly655Glu)
c.1421G>A (p.Gly474Glu)
c.1706G>A (p.Gly569Glu)
c.1694G>A (p.Gly565Glu)
n.2055G>A
9g.34517418G>CCA373266902DNAI1c.1952G>C (p.Gly651Ala)
c.329+2679G>C
c.740G>C
n.528G>C
c.1964G>C (p.Gly655Ala)
c.1421G>C (p.Gly474Ala)
c.1706G>C (p.Gly569Ala)
c.1694G>C (p.Gly565Ala)
n.2055G>C
 gnomAD v4
9g.34517418G>TCA373266903DNAI1c.1952G>T (p.Gly651Val)
c.329+2679G>T
c.740G>T
n.528G>T
c.1964G>T (p.Gly655Val)
c.1421G>T (p.Gly474Val)
c.1706G>T (p.Gly569Val)
c.1694G>T (p.Gly565Val)
n.2055G>T
9g.34517419G>ACA5034588DNAI1c.1953G>A (p.Gly651=)
c.329+2680G>A
c.741G>A
n.529G>A
c.1965G>A (p.Gly655=)
c.1422G>A (p.Gly474=)
c.1707G>A (p.Gly569=)
c.1695G>A (p.Gly565=)
n.2056G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517419G>CCA464398393DNAI1c.1953G>C (p.Gly651=)
c.329+2680G>C
c.741G>C
n.529G>C
c.1965G>C (p.Gly655=)
c.1422G>C (p.Gly474=)
c.1707G>C (p.Gly569=)
c.1695G>C (p.Gly565=)
n.2056G>C
9g.34517419G=CA1845592173DNAI1c.1953G= (p.Gly651=)
c.329+2680G=
c.741G=
n.529G=
c.1965G= (p.Gly655=)
c.1422G= (p.Gly474=)
c.1707G= (p.Gly569=)
c.1695G= (p.Gly565=)
n.2056G=
9g.34517419G>TCA464398392DNAI1c.1953G>T (p.Gly651=)
c.329+2680G>T
c.741G>T
n.529G>T
c.1965G>T (p.Gly655=)
c.1422G>T (p.Gly474=)
c.1707G>T (p.Gly569=)
c.1695G>T (p.Gly565=)
n.2056G>T
 dbSNP gnomAD v2 gnomAD v4
9g.34517420C>ACA373266906DNAI1c.1954C>A (p.His652Asn)
c.329+2681C>A
c.742C>A
n.530C>A
c.1966C>A (p.His656Asn)
c.1423C>A (p.His475Asn)
c.1708C>A (p.His570Asn)
c.1696C>A (p.His566Asn)
n.2057C>A
 dbSNP gnomAD v3 gnomAD v4
9g.34517420C=CA1845592178DNAI1c.1954C= (p.His652=)
c.329+2681C=
c.742C=
n.530C=
c.1966C= (p.His656=)
c.1423C= (p.His475=)
c.1708C= (p.His570=)
c.1696C= (p.His566=)
n.2057C=
9g.34517420C>GCA373266908DNAI1c.1954C>G (p.His652Asp)
c.329+2681C>G
c.742C>G
n.530C>G
c.1966C>G (p.His656Asp)
c.1423C>G (p.His475Asp)
c.1708C>G (p.His570Asp)
c.1696C>G (p.His566Asp)
n.2057C>G
9g.34517420C>TCA373266910DNAI1c.1954C>T (p.His652Tyr)
c.329+2681C>T
c.742C>T
n.530C>T
c.1966C>T (p.His656Tyr)
c.1423C>T (p.His475Tyr)
c.1708C>T (p.His570Tyr)
c.1696C>T (p.His566Tyr)
n.2057C>T
9g.34517421A>CCA373266916DNAI1c.1955A>C (p.His652Pro)
c.329+2682A>C
c.743A>C
n.531A>C
c.1967A>C (p.His656Pro)
c.1424A>C (p.His475Pro)
c.1709A>C (p.His570Pro)
c.1697A>C (p.His566Pro)
n.2058A>C
9g.34517421A>GCA373266912DNAI1c.1955A>G (p.His652Arg)
c.329+2682A>G
c.743A>G
n.531A>G
c.1967A>G (p.His656Arg)
c.1424A>G (p.His475Arg)
c.1709A>G (p.His570Arg)
c.1697A>G (p.His566Arg)
n.2058A>G
9g.34517421A>TCA373266914DNAI1c.1955A>T (p.His652Leu)
c.329+2682A>T
c.743A>T
n.531A>T
c.1967A>T (p.His656Leu)
c.1424A>T (p.His475Leu)
c.1709A>T (p.His570Leu)
c.1697A>T (p.His566Leu)
n.2058A>T
9g.34517422C>ACA5034589DNAI1c.1956C>A (p.His652Gln)
c.329+2683C>A
c.744C>A
n.532C>A
c.1968C>A (p.His656Gln)
c.1425C>A (p.His475Gln)
c.1710C>A (p.His570Gln)
c.1698C>A (p.His566Gln)
n.2059C>A
 dbSNP ExAC gnomAD v2
9g.34517422C=CA1845592182DNAI1c.1956C= (p.His652=)
c.329+2683C=
c.744C=
n.532C=
c.1968C= (p.His656=)
c.1425C= (p.His475=)
c.1710C= (p.His570=)
c.1698C= (p.His566=)
n.2059C=
9g.34517422C>GCA373266918DNAI1c.1956C>G (p.His652Gln)
c.329+2683C>G
c.744C>G
n.532C>G
c.1968C>G (p.His656Gln)
c.1425C>G (p.His475Gln)
c.1710C>G (p.His570Gln)
c.1698C>G (p.His566Gln)
n.2059C>G
9g.34517422C>TCA192653702DNAI1c.1956C>T (p.His652=)
c.329+2683C>T
c.744C>T
n.532C>T
c.1968C>T (p.His656=)
c.1425C>T (p.His475=)
c.1710C>T (p.His570=)
c.1698C>T (p.His566=)
n.2059C>T
 dbSNP
9g.34517427_34517429delCA2689798676DNAI1c.1961_1963del (p.Ile654del)
c.329+2688_329+2690del
c.749_751del
n.537_539del
c.1973_1975del (p.Ile658del)
c.1430_1432del (p.Ile477del)
c.1715_1717del (p.Ile572del)
c.1703_1705del (p.Ile568del)
n.2064_2066del
 gnomAD v4
9g.34517423A>CCA373266920DNAI1c.1957A>C (p.Ile653Leu)
c.329+2684A>C
c.745A>C
n.533A>C
c.1969A>C (p.Ile657Leu)
c.1426A>C (p.Ile476Leu)
c.1711A>C (p.Ile571Leu)
c.1699A>C (p.Ile567Leu)
n.2060A>C
9g.34517423A>GCA373266922DNAI1c.1957A>G (p.Ile653Val)
c.329+2684A>G
c.745A>G
n.533A>G
c.1969A>G (p.Ile657Val)
c.1426A>G (p.Ile476Val)
c.1711A>G (p.Ile571Val)
c.1699A>G (p.Ile567Val)
n.2060A>G
9g.34517423A>TCA373266925DNAI1c.1957A>T (p.Ile653Phe)
c.329+2684A>T
c.745A>T
n.533A>T
c.1969A>T (p.Ile657Phe)
c.1426A>T (p.Ile476Phe)
c.1711A>T (p.Ile571Phe)
c.1699A>T (p.Ile567Phe)
n.2060A>T
9g.34517424T>ACA373266926DNAI1c.1958T>A (p.Ile653Asn)
c.329+2685T>A
c.746T>A
n.534T>A
c.1970T>A (p.Ile657Asn)
c.1427T>A (p.Ile476Asn)
c.1712T>A (p.Ile571Asn)
c.1700T>A (p.Ile567Asn)
n.2061T>A
9g.34517424T>CCA373266928DNAI1c.1958T>C (p.Ile653Thr)
c.329+2685T>C
c.746T>C
n.534T>C
c.1970T>C (p.Ile657Thr)
c.1427T>C (p.Ile476Thr)
c.1712T>C (p.Ile571Thr)
c.1700T>C (p.Ile567Thr)
n.2061T>C
 gnomAD v4
9g.34517424T>GCA373266931DNAI1c.1958T>G (p.Ile653Ser)
c.329+2685T>G
c.746T>G
n.534T>G
c.1970T>G (p.Ile657Ser)
c.1427T>G (p.Ile476Ser)
c.1712T>G (p.Ile571Ser)
c.1700T>G (p.Ile567Ser)
n.2061T>G
9g.34517425C>ACA464398394DNAI1c.1959C>A (p.Ile653=)
c.329+2686C>A
c.747C>A
n.535C>A
c.1971C>A (p.Ile657=)
c.1428C>A (p.Ile476=)
c.1713C>A (p.Ile571=)
c.1701C>A (p.Ile567=)
n.2062C>A
9g.34517425C>GCA373266932DNAI1c.1959C>G (p.Ile653Met)
c.329+2686C>G
c.747C>G
n.535C>G
c.1971C>G (p.Ile657Met)
c.1428C>G (p.Ile476Met)
c.1713C>G (p.Ile571Met)
c.1701C>G (p.Ile567Met)
n.2062C>G
9g.34517425C>TCA464398395DNAI1c.1959C>T (p.Ile653=)
c.329+2686C>T
c.747C>T
n.535C>T
c.1971C>T (p.Ile657=)
c.1428C>T (p.Ile476=)
c.1713C>T (p.Ile571=)
c.1701C>T (p.Ile567=)
n.2062C>T
9g.34517426A=CA1845592187DNAI1c.1960A= (p.Ile654=)
c.329+2687A=
c.748A=
n.536A=
c.1972A= (p.Ile658=)
c.1429A= (p.Ile477=)
c.1714A= (p.Ile572=)
c.1702A= (p.Ile568=)
n.2063A=
9g.34517426A>CCA373266934DNAI1c.1960A>C (p.Ile654Leu)
c.329+2687A>C
c.748A>C
n.536A>C
c.1972A>C (p.Ile658Leu)
c.1429A>C (p.Ile477Leu)
c.1714A>C (p.Ile572Leu)
c.1702A>C (p.Ile568Leu)
n.2063A>C
9g.34517426A>GCA373266936DNAI1c.1960A>G (p.Ile654Val)
c.329+2687A>G
c.748A>G
n.536A>G
c.1972A>G (p.Ile658Val)
c.1429A>G (p.Ile477Val)
c.1714A>G (p.Ile572Val)
c.1702A>G (p.Ile568Val)
n.2063A>G
 dbSNP gnomAD v3 gnomAD v4
9g.34517426A>TCA373266938DNAI1c.1960A>T (p.Ile654Phe)
c.329+2687A>T
c.748A>T
n.536A>T
c.1972A>T (p.Ile658Phe)
c.1429A>T (p.Ile477Phe)
c.1714A>T (p.Ile572Phe)
c.1702A>T (p.Ile568Phe)
n.2063A>T
9g.34517427T>ACA373266942DNAI1c.1961T>A (p.Ile654Asn)
c.329+2688T>A
c.749T>A
n.537T>A
c.1973T>A (p.Ile658Asn)
c.1430T>A (p.Ile477Asn)
c.1715T>A (p.Ile572Asn)
c.1703T>A (p.Ile568Asn)
n.2064T>A
9g.34517427T>CCA373266944DNAI1c.1961T>C (p.Ile654Thr)
c.329+2688T>C
c.749T>C
n.537T>C
c.1973T>C (p.Ile658Thr)
c.1430T>C (p.Ile477Thr)
c.1715T>C (p.Ile572Thr)
c.1703T>C (p.Ile568Thr)
n.2064T>C
 gnomAD v4
9g.34517427T>GCA373266941DNAI1c.1961T>G (p.Ile654Ser)
c.329+2688T>G
c.749T>G
n.537T>G
c.1973T>G (p.Ile658Ser)
c.1430T>G (p.Ile477Ser)
c.1715T>G (p.Ile572Ser)
c.1703T>G (p.Ile568Ser)
n.2064T>G
9g.34517428C>ACA464398397DNAI1c.1962C>A (p.Ile654=)
c.329+2689C>A
c.750C>A
n.538C>A
c.1974C>A (p.Ile658=)
c.1431C>A (p.Ile477=)
c.1716C>A (p.Ile572=)
c.1704C>A (p.Ile568=)
n.2065C>A
 ClinVar dbSNP
9g.34517428C=CA1845592191DNAI1c.1962C= (p.Ile654=)
c.329+2689C=
c.750C=
n.538C=
c.1974C= (p.Ile658=)
c.1431C= (p.Ile477=)
c.1716C= (p.Ile572=)
c.1704C= (p.Ile568=)
n.2065C=
9g.34517428C>GCA373266946DNAI1c.1962C>G (p.Ile654Met)
c.329+2689C>G
c.750C>G
n.538C>G
c.1974C>G (p.Ile658Met)
c.1431C>G (p.Ile477Met)
c.1716C>G (p.Ile572Met)
c.1704C>G (p.Ile568Met)
n.2065C>G
9g.34517428C>TCA464398396DNAI1c.1962C>T (p.Ile654=)
c.329+2689C>T
c.750C>T
n.538C>T
c.1974C>T (p.Ile658=)
c.1431C>T (p.Ile477=)
c.1716C>T (p.Ile572=)
c.1704C>T (p.Ile568=)
n.2065C>T
 ClinVar gnomAD v4
9g.34517429A=CA1845592200DNAI1c.1963A= (p.Ser655=)
c.329+2690A=
c.751A=
n.539A=
c.1975A= (p.Ser659=)
c.1432A= (p.Ser478=)
c.1717A= (p.Ser573=)
c.1705A= (p.Ser569=)
n.2066A=
9g.34517429A>CCA373266948DNAI1c.1963A>C (p.Ser655Arg)
c.329+2690A>C
c.751A>C
n.539A>C
c.1975A>C (p.Ser659Arg)
c.1432A>C (p.Ser478Arg)
c.1717A>C (p.Ser573Arg)
c.1705A>C (p.Ser569Arg)
n.2066A>C
9g.34517429A>GCA192653703DNAI1c.1963A>G (p.Ser655Gly)
c.329+2690A>G
c.751A>G
n.539A>G
c.1975A>G (p.Ser659Gly)
c.1432A>G (p.Ser478Gly)
c.1717A>G (p.Ser573Gly)
c.1705A>G (p.Ser569Gly)
n.2066A>G
 dbSNP gnomAD v4
9g.34517429A>TCA373266950DNAI1c.1963A>T (p.Ser655Cys)
c.329+2690A>T
c.751A>T
n.539A>T
c.1975A>T (p.Ser659Cys)
c.1432A>T (p.Ser478Cys)
c.1717A>T (p.Ser573Cys)
c.1705A>T (p.Ser569Cys)
n.2066A>T
9g.34517430G>ACA373266953DNAI1c.1964G>A (p.Ser655Asn)
c.329+2691G>A
c.752G>A
n.540G>A
c.1976G>A (p.Ser659Asn)
c.1433G>A (p.Ser478Asn)
c.1718G>A (p.Ser573Asn)
c.1706G>A (p.Ser569Asn)
n.2067G>A
9g.34517430G>CCA373266957DNAI1c.1964G>C (p.Ser655Thr)
c.329+2691G>C
c.752G>C
n.540G>C
c.1976G>C (p.Ser659Thr)
c.1433G>C (p.Ser478Thr)
c.1718G>C (p.Ser573Thr)
c.1706G>C (p.Ser569Thr)
n.2067G>C
9g.34517430G>TCA373266955DNAI1c.1964G>T (p.Ser655Ile)
c.329+2691G>T
c.752G>T
n.540G>T
c.1976G>T (p.Ser659Ile)
c.1433G>T (p.Ser478Ile)
c.1718G>T (p.Ser573Ile)
c.1706G>T (p.Ser569Ile)
n.2067G>T
9g.34517431C>ACA373266959DNAI1c.1965C>A (p.Ser655Arg)
c.329+2692C>A
c.753C>A
n.541C>A
c.1977C>A (p.Ser659Arg)
c.1434C>A (p.Ser478Arg)
c.1719C>A (p.Ser573Arg)
c.1707C>A (p.Ser569Arg)
n.2068C>A
9g.34517431C>GCA373266961DNAI1c.1965C>G (p.Ser655Arg)
c.329+2692C>G
c.753C>G
n.541C>G
c.1977C>G (p.Ser659Arg)
c.1434C>G (p.Ser478Arg)
c.1719C>G (p.Ser573Arg)
c.1707C>G (p.Ser569Arg)
n.2068C>G
9g.34517431C>TCA464398398DNAI1c.1965C>T (p.Ser655=)
c.329+2692C>T
c.753C>T
n.541C>T
c.1977C>T (p.Ser659=)
c.1434C>T (p.Ser478=)
c.1719C>T (p.Ser573=)
c.1707C>T (p.Ser569=)
n.2068C>T
9g.34517432C>ACA373266962DNAI1c.1966C>A (p.Leu656Ile)
c.329+2693C>A
c.754C>A
n.542C>A
c.1978C>A (p.Leu660Ile)
c.1435C>A (p.Leu479Ile)
c.1720C>A (p.Leu574Ile)
c.1708C>A (p.Leu570Ile)
n.2069C>A
9g.34517432C>GCA373266963DNAI1c.1966C>G (p.Leu656Val)
c.329+2693C>G
c.754C>G
n.542C>G
c.1978C>G (p.Leu660Val)
c.1435C>G (p.Leu479Val)
c.1720C>G (p.Leu574Val)
c.1708C>G (p.Leu570Val)
n.2069C>G
9g.34517432C>TCA373266964DNAI1c.1966C>T (p.Leu656Phe)
c.329+2693C>T
c.754C>T
n.542C>T
c.1978C>T (p.Leu660Phe)
c.1435C>T (p.Leu479Phe)
c.1720C>T (p.Leu574Phe)
c.1708C>T (p.Leu570Phe)
n.2069C>T
9g.34517433T>ACA373266967DNAI1c.1967T>A (p.Leu656His)
c.329+2694T>A
c.755T>A
n.543T>A
c.1979T>A (p.Leu660His)
c.1436T>A (p.Leu479His)
c.1721T>A (p.Leu574His)
c.1709T>A (p.Leu570His)
n.2070T>A
9g.34517433T>CCA373266968DNAI1c.1967T>C (p.Leu656Pro)
c.329+2694T>C
c.755T>C
n.543T>C
c.1979T>C (p.Leu660Pro)
c.1436T>C (p.Leu479Pro)
c.1721T>C (p.Leu574Pro)
c.1709T>C (p.Leu570Pro)
n.2070T>C
9g.34517433T>GCA373266970DNAI1c.1967T>G (p.Leu656Arg)
c.329+2694T>G
c.755T>G
n.543T>G
c.1979T>G (p.Leu660Arg)
c.1436T>G (p.Leu479Arg)
c.1721T>G (p.Leu574Arg)
c.1709T>G (p.Leu570Arg)
n.2070T>G
9g.34517433T=CA1845592208DNAI1c.1967T= (p.Leu656=)
c.329+2694T=
c.755T=
n.543T=
c.1979T= (p.Leu660=)
c.1436T= (p.Leu479=)
c.1721T= (p.Leu574=)
c.1709T= (p.Leu570=)
n.2070T=
9g.34517434C>ACA464398399DNAI1c.1968C>A (p.Leu656=)
c.329+2695C>A
c.756C>A
n.544C>A
c.1980C>A (p.Leu660=)
c.1437C>A (p.Leu479=)
c.1722C>A (p.Leu574=)
c.1710C>A (p.Leu570=)
n.2071C>A
9g.34517434C=CA1845592227DNAI1c.1968C= (p.Leu656=)
c.329+2695C=
c.756C=
n.544C=
c.1980C= (p.Leu660=)
c.1437C= (p.Leu479=)
c.1722C= (p.Leu574=)
c.1710C= (p.Leu570=)
n.2071C=
9g.34517434C>GCA464398400DNAI1c.1968C>G (p.Leu656=)
c.329+2695C>G
c.756C>G
n.544C>G
c.1980C>G (p.Leu660=)
c.1437C>G (p.Leu479=)
c.1722C>G (p.Leu574=)
c.1710C>G (p.Leu570=)
n.2071C>G
9g.34517434C>TCA5034591DNAI1c.1968C>T (p.Leu656=)
c.329+2695C>T
c.756C>T
n.544C>T
c.1980C>T (p.Leu660=)
c.1437C>T (p.Leu479=)
c.1722C>T (p.Leu574=)
c.1710C>T (p.Leu570=)
n.2071C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517434_34517447dupCA5034590DNAI1c.1968_1981dup (p.Asn661ThrfsTer34)
c.329+2695_329+2708dup
c.756_769dup
n.544_557dup
c.1980_1993dup (p.Asn665ThrfsTer34)
c.1437_1450dup (p.Asn484ThrfsTer34)
c.1722_1735dup (p.Asn579ThrfsTer34)
c.1710_1723dup (p.Asn575ThrfsTer34)
n.2071_2084dup
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517435A>CCA373266975DNAI1c.1969A>C (p.Lys657Gln)
c.329+2696A>C
c.757A>C
n.545A>C
c.1981A>C (p.Lys661Gln)
c.1438A>C (p.Lys480Gln)
c.1723A>C (p.Lys575Gln)
c.1711A>C (p.Lys571Gln)
n.2072A>C
9g.34517435A>GCA373266976DNAI1c.1969A>G (p.Lys657Glu)
c.329+2696A>G
c.757A>G
n.545A>G
c.1981A>G (p.Lys661Glu)
c.1438A>G (p.Lys480Glu)
c.1723A>G (p.Lys575Glu)
c.1711A>G (p.Lys571Glu)
n.2072A>G
9g.34517435A>TCA373266977DNAI1c.1969A>T (p.Lys657Ter)
c.329+2696A>T
c.757A>T
n.545A>T
c.1981A>T (p.Lys661Ter)
c.1438A>T (p.Lys480Ter)
c.1723A>T (p.Lys575Ter)
c.1711A>T (p.Lys571Ter)
n.2072A>T
9g.34517436A=CA1845592247DNAI1c.1970A= (p.Lys657=)
c.329+2697A=
c.758A=
n.546A=
c.1982A= (p.Lys661=)
c.1439A= (p.Lys480=)
c.1724A= (p.Lys575=)
c.1712A= (p.Lys571=)
n.2073A=
9g.34517436A>CCA373266978DNAI1c.1970A>C (p.Lys657Thr)
c.329+2697A>C
c.758A>C
n.546A>C
c.1982A>C (p.Lys661Thr)
c.1439A>C (p.Lys480Thr)
c.1724A>C (p.Lys575Thr)
c.1712A>C (p.Lys571Thr)
n.2073A>C
9g.34517436A>GCA5034592DNAI1c.1970A>G (p.Lys657Arg)
c.329+2697A>G
c.758A>G
n.546A>G
c.1982A>G (p.Lys661Arg)
c.1439A>G (p.Lys480Arg)
c.1724A>G (p.Lys575Arg)
c.1712A>G (p.Lys571Arg)
n.2073A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.34517436A>TCA373266981DNAI1c.1970A>T (p.Lys657Met)
c.329+2697A>T
c.758A>T
n.546A>T
c.1982A>T (p.Lys661Met)
c.1439A>T (p.Lys480Met)
c.1724A>T (p.Lys575Met)
c.1712A>T (p.Lys571Met)
n.2073A>T
9g.34517437G>ACA464398401DNAI1c.1971G>A (p.Lys657=)
c.329+2698G>A
c.759G>A
n.547G>A
c.1983G>A (p.Lys661=)
c.1440G>A (p.Lys480=)
c.1725G>A (p.Lys575=)
c.1713G>A (p.Lys571=)
n.2074G>A
 gnomAD v4
9g.34517437G>CCA373266985DNAI1c.1971G>C (p.Lys657Asn)
c.329+2698G>C
c.759G>C
n.547G>C
c.1983G>C (p.Lys661Asn)
c.1440G>C (p.Lys480Asn)
c.1725G>C (p.Lys575Asn)
c.1713G>C (p.Lys571Asn)
n.2074G>C
9g.34517437G>TCA373266986DNAI1c.1971G>T (p.Lys657Asn)
c.329+2698G>T
c.759G>T
n.547G>T
c.1983G>T (p.Lys661Asn)
c.1440G>T (p.Lys480Asn)
c.1725G>T (p.Lys575Asn)
c.1713G>T (p.Lys571Asn)
n.2074G>T
9g.34517437_34517439delinsGCTCA1845592251DNAI1c.1971_1973delinsGCT (p.Lys657=)
c.329+2698_329+2700delinsGCT
c.759_761delinsGCT
n.547_549delinsGCT
c.1983_1985delinsGCT (p.Lys661=)
c.1440_1442delinsGCT (p.Lys480=)
c.1725_1727delinsGCT (p.Lys575=)
c.1713_1715delinsGCT (p.Lys571=)
n.2074_2076delinsGCT
9g.34517438C>ACA373266988DNAI1c.1972C>A (p.Leu658Ile)
c.329+2699C>A
c.760C>A
n.548C>A
c.1984C>A (p.Leu662Ile)
c.1441C>A (p.Leu481Ile)
c.1726C>A (p.Leu576Ile)
c.1714C>A (p.Leu572Ile)
n.2075C>A
9g.34517438C=CA1845592265DNAI1c.1972C= (p.Leu658=)
c.329+2699C=
c.760C=
n.548C=
c.1984C= (p.Leu662=)
c.1441C= (p.Leu481=)
c.1726C= (p.Leu576=)
c.1714C= (p.Leu572=)
n.2075C=
9g.34517438C>GCA373266989DNAI1c.1972C>G (p.Leu658Val)
c.329+2699C>G
c.760C>G
n.548C>G
c.1984C>G (p.Leu662Val)
c.1441C>G (p.Leu481Val)
c.1726C>G (p.Leu576Val)
c.1714C>G (p.Leu572Val)
n.2075C>G
9g.34517438C>TCA373266991DNAI1c.1972C>T (p.Leu658Phe)
c.329+2699C>T
c.760C>T
n.548C>T
c.1984C>T (p.Leu662Phe)
c.1441C>T (p.Leu481Phe)
c.1726C>T (p.Leu576Phe)
c.1714C>T (p.Leu572Phe)
n.2075C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517441_34517442delCA1845592262DNAI1c.1975_1976del (p.Ser659ThrfsTer?)
c.329+2702_329+2703del
c.763_764del
n.551_552del
c.1987_1988del (p.Ser663ThrfsTer?)
c.1444_1445del (p.Ser482ThrfsTer?)
c.1729_1730del (p.Ser577ThrfsTer?)
c.1717_1718del (p.Ser573ThrfsTer?)
n.2078_2079del
 dbSNP
9g.34517439T>ACA373266993DNAI1c.1973T>A (p.Leu658His)
c.329+2700T>A
c.761T>A
n.549T>A
c.1985T>A (p.Leu662His)
c.1442T>A (p.Leu481His)
c.1727T>A (p.Leu576His)
c.1715T>A (p.Leu572His)
n.2076T>A
9g.34517439T>CCA373266994DNAI1c.1973T>C (p.Leu658Pro)
c.329+2700T>C
c.761T>C
n.549T>C
c.1985T>C (p.Leu662Pro)
c.1442T>C (p.Leu481Pro)
c.1727T>C (p.Leu576Pro)
c.1715T>C (p.Leu572Pro)
n.2076T>C
 dbSNP
9g.34517439T>GCA373266996DNAI1c.1973T>G (p.Leu658Arg)
c.329+2700T>G
c.761T>G
n.549T>G
c.1985T>G (p.Leu662Arg)
c.1442T>G (p.Leu481Arg)
c.1727T>G (p.Leu576Arg)
c.1715T>G (p.Leu572Arg)
n.2076T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.34517439T=CA1845592280DNAI1c.1973T= (p.Leu658=)
c.329+2700T=
c.761T=
n.549T=
c.1985T= (p.Leu662=)
c.1442T= (p.Leu481=)
c.1727T= (p.Leu576=)
c.1715T= (p.Leu572=)
n.2076T=
9g.34517440C>ACA464398402DNAI1c.1974C>A (p.Leu658=)
c.329+2701C>A
c.762C>A
n.550C>A
c.1986C>A (p.Leu662=)
c.1443C>A (p.Leu481=)
c.1728C>A (p.Leu576=)
c.1716C>A (p.Leu572=)
n.2077C>A
9g.34517440C=CA1845592285DNAI1c.1974C= (p.Leu658=)
c.329+2701C=
c.762C=
n.550C=
c.1986C= (p.Leu662=)
c.1443C= (p.Leu481=)
c.1728C= (p.Leu576=)
c.1716C= (p.Leu572=)
n.2077C=
9g.34517440C>GCA464398403DNAI1c.1974C>G (p.Leu658=)
c.329+2701C>G
c.762C>G
n.550C>G
c.1986C>G (p.Leu662=)
c.1443C>G (p.Leu481=)
c.1728C>G (p.Leu576=)
c.1716C>G (p.Leu572=)
n.2077C>G
 dbSNP gnomAD v4
9g.34517440C>TCA5034593DNAI1c.1974C>T (p.Leu658=)
c.329+2701C>T
c.762C>T
n.550C>T
c.1986C>T (p.Leu662=)
c.1443C>T (p.Leu481=)
c.1728C>T (p.Leu576=)
c.1716C>T (p.Leu572=)
n.2077C>T
 dbSNP ExAC gnomAD v2
9g.34517441T>ACA373267003DNAI1c.1975T>A (p.Ser659Thr)
c.329+2702T>A
c.763T>A
n.551T>A
c.1987T>A (p.Ser663Thr)
c.1444T>A (p.Ser482Thr)
c.1729T>A (p.Ser577Thr)
c.1717T>A (p.Ser573Thr)
n.2078T>A
9g.34517441T>CCA373267001DNAI1c.1975T>C (p.Ser659Pro)
c.329+2702T>C
c.763T>C
n.551T>C
c.1987T>C (p.Ser663Pro)
c.1444T>C (p.Ser482Pro)
c.1729T>C (p.Ser577Pro)
c.1717T>C (p.Ser573Pro)
n.2078T>C
9g.34517441T>GCA373266999DNAI1c.1975T>G (p.Ser659Ala)
c.329+2702T>G
c.763T>G
n.551T>G
c.1987T>G (p.Ser663Ala)
c.1444T>G (p.Ser482Ala)
c.1729T>G (p.Ser577Ala)
c.1717T>G (p.Ser573Ala)
n.2078T>G
9g.34517442C>ACA373267005DNAI1c.1976C>A (p.Ser659Ter)
c.329+2703C>A
c.764C>A
n.552C>A
c.1988C>A (p.Ser663Ter)
c.1445C>A (p.Ser482Ter)
c.1730C>A (p.Ser577Ter)
c.1718C>A (p.Ser573Ter)
n.2079C>A
9g.34517442C>GCA373267006DNAI1c.1976C>G (p.Ser659Ter)
c.329+2703C>G
c.764C>G
n.552C>G
c.1988C>G (p.Ser663Ter)
c.1445C>G (p.Ser482Ter)
c.1730C>G (p.Ser577Ter)
c.1718C>G (p.Ser573Ter)
n.2079C>G
9g.34517442C>TCA373267008DNAI1c.1976C>T (p.Ser659Leu)
c.329+2703C>T
c.764C>T
n.552C>T
c.1988C>T (p.Ser663Leu)
c.1445C>T (p.Ser482Leu)
c.1730C>T (p.Ser577Leu)
c.1718C>T (p.Ser573Leu)
n.2079C>T
9g.34517443A>CCA464398406DNAI1c.1977A>C (p.Ser659=)
c.329+2704A>C
c.765A>C
n.553A>C
c.1989A>C (p.Ser663=)
c.1446A>C (p.Ser482=)
c.1731A>C (p.Ser577=)
c.1719A>C (p.Ser573=)
n.2080A>C
9g.34517443A>GCA464398405DNAI1c.1977A>G (p.Ser659=)
c.329+2704A>G
c.765A>G
n.553A>G
c.1989A>G (p.Ser663=)
c.1446A>G (p.Ser482=)
c.1731A>G (p.Ser577=)
c.1719A>G (p.Ser573=)
n.2080A>G
9g.34517443A>TCA464398404DNAI1c.1977A>T (p.Ser659=)
c.329+2704A>T
c.765A>T
n.553A>T
c.1989A>T (p.Ser663=)
c.1446A>T (p.Ser482=)
c.1731A>T (p.Ser577=)
c.1719A>T (p.Ser573=)
n.2080A>T
9g.34517444C>ACA373267011DNAI1c.1978C>A (p.Pro660Thr)
c.329+2705C>A
c.766C>A
n.554C>A
c.1990C>A (p.Pro664Thr)
c.1447C>A (p.Pro483Thr)
c.1732C>A (p.Pro578Thr)
c.1720C>A (p.Pro574Thr)
n.2081C>A
9g.34517444C>GCA373267013DNAI1c.1978C>G (p.Pro660Ala)
c.329+2705C>G
c.766C>G
n.554C>G
c.1990C>G (p.Pro664Ala)
c.1447C>G (p.Pro483Ala)
c.1732C>G (p.Pro578Ala)
c.1720C>G (p.Pro574Ala)
n.2081C>G
9g.34517444C>TCA373267014DNAI1c.1978C>T (p.Pro660Ser)
c.329+2705C>T
c.766C>T
n.554C>T
c.1990C>T (p.Pro664Ser)
c.1447C>T (p.Pro483Ser)
c.1732C>T (p.Pro578Ser)
c.1720C>T (p.Pro574Ser)
n.2081C>T
 gnomAD v4
9g.34517445C>ACA192653723DNAI1c.1979C>A (p.Pro660His)
c.329+2706C>A
c.767C>A
n.555C>A
c.1991C>A (p.Pro664His)
c.1448C>A (p.Pro483His)
c.1733C>A (p.Pro578His)
c.1721C>A (p.Pro574His)
n.2082C>A
 dbSNP
9g.34517445C=CA1845592293DNAI1c.1979C= (p.Pro660=)
c.329+2706C=
c.767C=
n.555C=
c.1991C= (p.Pro664=)
c.1448C= (p.Pro483=)
c.1733C= (p.Pro578=)
c.1721C= (p.Pro574=)
n.2082C=
9g.34517445C>GCA373267018DNAI1c.1979C>G (p.Pro660Arg)
c.329+2706C>G
c.767C>G
n.555C>G
c.1991C>G (p.Pro664Arg)
c.1448C>G (p.Pro483Arg)
c.1733C>G (p.Pro578Arg)
c.1721C>G (p.Pro574Arg)
n.2082C>G
 gnomAD v4
9g.34517445C>TCA373267020DNAI1c.1979C>T (p.Pro660Leu)
c.329+2706C>T
c.767C>T
n.555C>T
c.1991C>T (p.Pro664Leu)
c.1448C>T (p.Pro483Leu)
c.1733C>T (p.Pro578Leu)
c.1721C>T (p.Pro574Leu)
n.2082C>T
 gnomAD v4
9g.34517446C>ACA464398407DNAI1c.1980C>A (p.Pro660=)
c.329+2707C>A
c.768C>A
n.556C>A
c.1992C>A (p.Pro664=)
c.1449C>A (p.Pro483=)
c.1734C>A (p.Pro578=)
c.1722C>A (p.Pro574=)
n.2083C>A
9g.34517446C>GCA464398408DNAI1c.1980C>G (p.Pro660=)
c.329+2707C>G
c.768C>G
n.556C>G
c.1992C>G (p.Pro664=)
c.1449C>G (p.Pro483=)
c.1734C>G (p.Pro578=)
c.1722C>G (p.Pro574=)
n.2083C>G
9g.34517446C>TCA464398409DNAI1c.1980C>T (p.Pro660=)
c.329+2707C>T
c.768C>T
n.556C>T
c.1992C>T (p.Pro664=)
c.1449C>T (p.Pro483=)
c.1734C>T (p.Pro578=)
c.1722C>T (p.Pro574=)
n.2083C>T
9g.34517447A>CCA373267021DNAI1c.1981A>C (p.Asn661His)
c.329+2708A>C
c.769A>C
n.557A>C
c.1993A>C (p.Asn665His)
c.1450A>C (p.Asn484His)
c.1735A>C (p.Asn579His)
c.1723A>C (p.Asn575His)
n.2084A>C
9g.34517447A>GCA373267022DNAI1c.1981A>G (p.Asn661Asp)
c.329+2708A>G
c.769A>G
n.557A>G
c.1993A>G (p.Asn665Asp)
c.1450A>G (p.Asn484Asp)
c.1735A>G (p.Asn579Asp)
c.1723A>G (p.Asn575Asp)
n.2084A>G
9g.34517447A>TCA373267024DNAI1c.1981A>T (p.Asn661Tyr)
c.329+2708A>T
c.769A>T
n.557A>T
c.1993A>T (p.Asn665Tyr)
c.1450A>T (p.Asn484Tyr)
c.1735A>T (p.Asn579Tyr)
c.1723A>T (p.Asn575Tyr)
n.2084A>T
9g.34517448A=CA1845592305DNAI1c.1982A= (p.Asn661=)
c.329+2709A=
c.770A=
n.558A=
c.1994A= (p.Asn665=)
c.1451A= (p.Asn484=)
c.1736A= (p.Asn579=)
c.1724A= (p.Asn575=)
n.2085A=
9g.34517448A>CCA373267031DNAI1c.1982A>C (p.Asn661Thr)
c.329+2709A>C
c.770A>C
n.558A>C
c.1994A>C (p.Asn665Thr)
c.1451A>C (p.Asn484Thr)
c.1736A>C (p.Asn579Thr)
c.1724A>C (p.Asn575Thr)
n.2085A>C
9g.34517448A>GCA373267028DNAI1c.1982A>G (p.Asn661Ser)
c.329+2709A>G
c.770A>G
n.558A>G
c.1994A>G (p.Asn665Ser)
c.1451A>G (p.Asn484Ser)
c.1736A>G (p.Asn579Ser)
c.1724A>G (p.Asn575Ser)
n.2085A>G
 dbSNP gnomAD v2 gnomAD v4
9g.34517448A>TCA373267027DNAI1c.1982A>T (p.Asn661Ile)
c.329+2709A>T
c.770A>T
n.558A>T
c.1994A>T (p.Asn665Ile)
c.1451A>T (p.Asn484Ile)
c.1736A>T (p.Asn579Ile)
c.1724A>T (p.Asn575Ile)
n.2085A>T
9g.34517449T>ACA373267033DNAI1c.1983T>A (p.Asn661Lys)
c.329+2710T>A
c.771T>A
n.559T>A
c.1995T>A (p.Asn665Lys)
c.1452T>A (p.Asn484Lys)
c.1737T>A (p.Asn579Lys)
c.1725T>A (p.Asn575Lys)
n.2086T>A
9g.34517449T>CCA464398410DNAI1c.1983T>C (p.Asn661=)
c.329+2710T>C
c.771T>C
n.559T>C
c.1995T>C (p.Asn665=)
c.1452T>C (p.Asn484=)
c.1737T>C (p.Asn579=)
c.1725T>C (p.Asn575=)
n.2086T>C
 gnomAD v4
9g.34517449T>GCA373267034DNAI1c.1983T>G (p.Asn661Lys)
c.329+2710T>G
c.771T>G
n.559T>G
c.1995T>G (p.Asn665Lys)
c.1452T>G (p.Asn484Lys)
c.1737T>G (p.Asn579Lys)
c.1725T>G (p.Asn575Lys)
n.2086T>G
9g.34517451delCA2689798677DNAI1c.1985del (p.Leu662CysfsTer28)
c.329+2712del
c.773del
n.561del
c.1997del (p.Leu666CysfsTer28)
c.1454del (p.Leu485CysfsTer28)
c.1739del (p.Leu580CysfsTer28)
c.1727del (p.Leu576CysfsTer28)
n.2088del
 gnomAD v4
9g.34517450T>ACA373267036DNAI1c.1984T>A (p.Leu662Met)
c.329+2711T>A
c.772T>A
n.560T>A
c.1996T>A (p.Leu666Met)
c.1453T>A (p.Leu485Met)
c.1738T>A (p.Leu580Met)
c.1726T>A (p.Leu576Met)
n.2087T>A
9g.34517450T>CCA464398411DNAI1c.1984T>C (p.Leu662=)
c.329+2711T>C
c.772T>C
n.560T>C
c.1996T>C (p.Leu666=)
c.1453T>C (p.Leu485=)
c.1738T>C (p.Leu580=)
c.1726T>C (p.Leu576=)
n.2087T>C
 ClinVar dbSNP
9g.34517450T>GCA373267038DNAI1c.1984T>G (p.Leu662Val)
c.329+2711T>G
c.772T>G
n.560T>G
c.1996T>G (p.Leu666Val)
c.1453T>G (p.Leu485Val)
c.1738T>G (p.Leu580Val)
c.1726T>G (p.Leu576Val)
n.2087T>G
9g.34517451T>ACA373267040DNAI1c.1985T>A (p.Leu662Ter)
c.329+2712T>A
c.773T>A
n.561T>A
c.1997T>A (p.Leu666Ter)
c.1454T>A (p.Leu485Ter)
c.1739T>A (p.Leu580Ter)
c.1727T>A (p.Leu576Ter)
n.2088T>A
9g.34517451T>CCA373267042DNAI1c.1985T>C (p.Leu662Ser)
c.329+2712T>C
c.773T>C
n.561T>C
c.1997T>C (p.Leu666Ser)
c.1454T>C (p.Leu485Ser)
c.1739T>C (p.Leu580Ser)
c.1727T>C (p.Leu576Ser)
n.2088T>C
9g.34517451T>GCA373267043DNAI1c.1985T>G (p.Leu662Trp)
c.329+2712T>G
c.773T>G
n.561T>G
c.1997T>G (p.Leu666Trp)
c.1454T>G (p.Leu485Trp)
c.1739T>G (p.Leu580Trp)
c.1727T>G (p.Leu576Trp)
n.2088T>G
 dbSNP gnomAD v3 gnomAD v4
9g.34517451T=CA1845592319DNAI1c.1985T= (p.Leu662=)
c.329+2712T=
c.773T=
n.561T=
c.1997T= (p.Leu666=)
c.1454T= (p.Leu485=)
c.1739T= (p.Leu580=)
c.1727T= (p.Leu576=)
n.2088T=
9g.34517452G>ACA464398412DNAI1c.1986G>A (p.Leu662=)
c.329+2713G>A
c.774G>A
n.562G>A
c.1998G>A (p.Leu666=)
c.1455G>A (p.Leu485=)
c.1740G>A (p.Leu580=)
c.1728G>A (p.Leu576=)
n.2089G>A
9g.34517452G>CCA373267044DNAI1c.1986G>C (p.Leu662Phe)
c.329+2713G>C
c.774G>C
n.562G>C
c.1998G>C (p.Leu666Phe)
c.1455G>C (p.Leu485Phe)
c.1740G>C (p.Leu580Phe)
c.1728G>C (p.Leu576Phe)
n.2089G>C
9g.34517452G>TCA373267046DNAI1c.1986G>T (p.Leu662Phe)
c.329+2713G>T
c.774G>T
n.562G>T
c.1998G>T (p.Leu666Phe)
c.1455G>T (p.Leu485Phe)
c.1740G>T (p.Leu580Phe)
c.1728G>T (p.Leu576Phe)
n.2089G>T
9g.34517453C>ACA373267048DNAI1c.1987C>A (p.Arg663Ser)
c.329+2714C>A
c.775C>A
n.563C>A
c.1999C>A (p.Arg667Ser)
c.1456C>A (p.Arg486Ser)
c.1741C>A (p.Arg581Ser)
c.1729C>A (p.Arg577Ser)
n.2090C>A
9g.34517453C=CA1845592331DNAI1c.1987C= (p.Arg663=)
c.329+2714C=
c.775C=
n.563C=
c.1999C= (p.Arg667=)
c.1456C= (p.Arg486=)
c.1741C= (p.Arg581=)
c.1729C= (p.Arg577=)
n.2090C=
9g.34517453C>GCA373267049DNAI1c.1987C>G (p.Arg663Gly)
c.329+2714C>G
c.775C>G
n.563C>G
c.1999C>G (p.Arg667Gly)
c.1456C>G (p.Arg486Gly)
c.1741C>G (p.Arg581Gly)
c.1729C>G (p.Arg577Gly)
n.2090C>G
 ClinVar dbSNP gnomAD v4
9g.34517453C>TCA5034594DNAI1c.1987C>T (p.Arg663Cys)
c.329+2714C>T
c.775C>T
n.563C>T
c.1999C>T (p.Arg667Cys)
c.1456C>T (p.Arg486Cys)
c.1741C>T (p.Arg581Cys)
c.1729C>T (p.Arg577Cys)
n.2090C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517454G>ACA192653727DNAI1c.1988G>A (p.Arg663His)
c.329+2715G>A
c.776G>A
n.564G>A
c.2000G>A (p.Arg667His)
c.1457G>A (p.Arg486His)
c.1742G>A (p.Arg581His)
c.1730G>A (p.Arg577His)
n.2091G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.34517454G>CCA373267054DNAI1c.1988G>C (p.Arg663Pro)
c.329+2715G>C
c.776G>C
n.564G>C
c.2000G>C (p.Arg667Pro)
c.1457G>C (p.Arg486Pro)
c.1742G>C (p.Arg581Pro)
c.1730G>C (p.Arg577Pro)
n.2091G>C
9g.34517454G=CA1845592341DNAI1c.1988G= (p.Arg663=)
c.329+2715G=
c.776G=
n.564G=
c.2000G= (p.Arg667=)
c.1457G= (p.Arg486=)
c.1742G= (p.Arg581=)
c.1730G= (p.Arg577=)
n.2091G=
9g.34517454G>TCA373267052DNAI1c.1988G>T (p.Arg663Leu)
c.329+2715G>T
c.776G>T
n.564G>T
c.2000G>T (p.Arg667Leu)
c.1457G>T (p.Arg486Leu)
c.1742G>T (p.Arg581Leu)
c.1730G>T (p.Arg577Leu)
n.2091G>T
 gnomAD v4
9g.34517455C>ACA464398413DNAI1c.1989C>A (p.Arg663=)
c.329+2716C>A
c.777C>A
n.565C>A
c.2001C>A (p.Arg667=)
c.1458C>A (p.Arg486=)
c.1743C>A (p.Arg581=)
c.1731C>A (p.Arg577=)
n.2092C>A
9g.34517455C>GCA464398415DNAI1c.1989C>G (p.Arg663=)
c.329+2716C>G
c.777C>G
n.565C>G
c.2001C>G (p.Arg667=)
c.1458C>G (p.Arg486=)
c.1743C>G (p.Arg581=)
c.1731C>G (p.Arg577=)
n.2092C>G
9g.34517455C>TCA464398414DNAI1c.1989C>T (p.Arg663=)
c.329+2716C>T
c.777C>T
n.565C>T
c.2001C>T (p.Arg667=)
c.1458C>T (p.Arg486=)
c.1743C>T (p.Arg581=)
c.1731C>T (p.Arg577=)
n.2092C>T
 gnomAD v4
9g.34517456A>CCA373267058DNAI1c.1990A>C (p.Lys664Gln)
c.329+2717A>C
c.778A>C
n.566A>C
c.2002A>C (p.Lys668Gln)
c.1459A>C (p.Lys487Gln)
c.1744A>C (p.Lys582Gln)
c.1732A>C (p.Lys578Gln)
n.2093A>C
9g.34517456A>GCA373267061DNAI1c.1990A>G (p.Lys664Glu)
c.329+2717A>G
c.778A>G
n.566A>G
c.2002A>G (p.Lys668Glu)
c.1459A>G (p.Lys487Glu)
c.1744A>G (p.Lys582Glu)
c.1732A>G (p.Lys578Glu)
n.2093A>G
9g.34517456A>TCA373267060DNAI1c.1990A>T (p.Lys664Ter)
c.329+2717A>T
c.778A>T
n.566A>T
c.2002A>T (p.Lys668Ter)
c.1459A>T (p.Lys487Ter)
c.1744A>T (p.Lys582Ter)
c.1732A>T (p.Lys578Ter)
n.2093A>T
9g.34517457A>CCA373267062DNAI1c.1991A>C (p.Lys664Thr)
c.329+2718A>C
c.779A>C
n.567A>C
c.2003A>C (p.Lys668Thr)
c.1460A>C (p.Lys487Thr)
c.1745A>C (p.Lys582Thr)
c.1733A>C (p.Lys578Thr)
n.2094A>C
9g.34517457A>GCA373267065DNAI1c.1991A>G (p.Lys664Arg)
c.329+2718A>G
c.779A>G
n.567A>G
c.2003A>G (p.Lys668Arg)
c.1460A>G (p.Lys487Arg)
c.1745A>G (p.Lys582Arg)
c.1733A>G (p.Lys578Arg)
n.2094A>G
9g.34517457A>TCA373267066DNAI1c.1991A>T (p.Lys664Met)
c.329+2718A>T
c.779A>T
n.567A>T
c.2003A>T (p.Lys668Met)
c.1460A>T (p.Lys487Met)
c.1745A>T (p.Lys582Met)
c.1733A>T (p.Lys578Met)
n.2094A>T
9g.34517458G>ACA464398416DNAI1c.1992G>A (p.Lys664=)
c.329+2719G>A
c.780G>A
n.568G>A
c.2004G>A (p.Lys668=)
c.1461G>A (p.Lys487=)
c.1746G>A (p.Lys582=)
c.1734G>A (p.Lys578=)
n.2095G>A
9g.34517458G>CCA373267068DNAI1c.1992G>C (p.Lys664Asn)
c.329+2719G>C
c.780G>C
n.568G>C
c.2004G>C (p.Lys668Asn)
c.1461G>C (p.Lys487Asn)
c.1746G>C (p.Lys582Asn)
c.1734G>C (p.Lys578Asn)
n.2095G>C
9g.34517458G=CA1845592359DNAI1c.1992G= (p.Lys664=)
c.329+2719G=
c.780G=
n.568G=
c.2004G= (p.Lys668=)
c.1461G= (p.Lys487=)
c.1746G= (p.Lys582=)
c.1734G= (p.Lys578=)
n.2095G=
9g.34517458G>TCA373267070DNAI1c.1992G>T (p.Lys664Asn)
c.329+2719G>T
c.780G>T
n.568G>T
c.2004G>T (p.Lys668Asn)
c.1461G>T (p.Lys487Asn)
c.1746G>T (p.Lys582Asn)
c.1734G>T (p.Lys578Asn)
n.2095G>T
 dbSNP gnomAD v3 gnomAD v4
9g.34517459A>CCA373267072DNAI1c.1993A>C (p.Met665Leu)
c.329+2720A>C
c.781A>C
n.569A>C
c.2005A>C (p.Met669Leu)
c.1462A>C (p.Met488Leu)
c.1747A>C (p.Met583Leu)
c.1735A>C (p.Met579Leu)
n.2096A>C
9g.34517459A>GCA373267074DNAI1c.1993A>G (p.Met665Val)
c.329+2720A>G
c.781A>G
n.569A>G
c.2005A>G (p.Met669Val)
c.1462A>G (p.Met488Val)
c.1747A>G (p.Met583Val)
c.1735A>G (p.Met579Val)
n.2096A>G
 gnomAD v4
9g.34517459A>TCA373267076DNAI1c.1993A>T (p.Met665Leu)
c.329+2720A>T
c.781A>T
n.569A>T
c.2005A>T (p.Met669Leu)
c.1462A>T (p.Met488Leu)
c.1747A>T (p.Met583Leu)
c.1735A>T (p.Met579Leu)
n.2096A>T
9g.34517460T>ACA373267078DNAI1c.1994T>A (p.Met665Lys)
c.329+2721T>A
c.782T>A
n.570T>A
c.2006T>A (p.Met669Lys)
c.1463T>A (p.Met488Lys)
c.1748T>A (p.Met583Lys)
c.1736T>A (p.Met579Lys)
n.2097T>A
9g.34517460T>CCA373267081DNAI1c.1994T>C (p.Met665Thr)
c.329+2721T>C
c.782T>C
n.570T>C
c.2006T>C (p.Met669Thr)
c.1463T>C (p.Met488Thr)
c.1748T>C (p.Met583Thr)
c.1736T>C (p.Met579Thr)
n.2097T>C
9g.34517460T>GCA373267082DNAI1c.1994T>G (p.Met665Arg)
c.329+2721T>G
c.782T>G
n.570T>G
c.2006T>G (p.Met669Arg)
c.1463T>G (p.Met488Arg)
c.1748T>G (p.Met583Arg)
c.1736T>G (p.Met579Arg)
n.2097T>G
9g.34517461G>ACA373267088DNAI1c.1995G>A (p.Met665Ile)
c.329+2722G>A
c.783G>A
n.571G>A
c.2007G>A (p.Met669Ile)
c.1464G>A (p.Met488Ile)
c.1749G>A (p.Met583Ile)
c.1737G>A (p.Met579Ile)
n.2098G>A
9g.34517461G>CCA373267087DNAI1c.1995G>C (p.Met665Ile)
c.329+2722G>C
c.783G>C
n.571G>C
c.2007G>C (p.Met669Ile)
c.1464G>C (p.Met488Ile)
c.1749G>C (p.Met583Ile)
c.1737G>C (p.Met579Ile)
n.2098G>C
9g.34517461G>TCA373267085DNAI1c.1995G>T (p.Met665Ile)
c.329+2722G>T
c.783G>T
n.571G>T
c.2007G>T (p.Met669Ile)
c.1464G>T (p.Met488Ile)
c.1749G>T (p.Met583Ile)
c.1737G>T (p.Met579Ile)
n.2098G>T
9g.34517462C>ACA373267090DNAI1c.1996C>A (p.Pro666Thr)
c.329+2723C>A
c.784C>A
n.572C>A
c.2008C>A (p.Pro670Thr)
c.1465C>A (p.Pro489Thr)
c.1750C>A (p.Pro584Thr)
c.1738C>A (p.Pro580Thr)
n.2099C>A
9g.34517462C>GCA373267092DNAI1c.1996C>G (p.Pro666Ala)
c.329+2723C>G
c.784C>G
n.572C>G
c.2008C>G (p.Pro670Ala)
c.1465C>G (p.Pro489Ala)
c.1750C>G (p.Pro584Ala)
c.1738C>G (p.Pro580Ala)
n.2099C>G
9g.34517462C>TCA373267093DNAI1c.1996C>T (p.Pro666Ser)
c.329+2723C>T
c.784C>T
n.572C>T
c.2008C>T (p.Pro670Ser)
c.1465C>T (p.Pro489Ser)
c.1750C>T (p.Pro584Ser)
c.1738C>T (p.Pro580Ser)
n.2099C>T
 gnomAD v4
9g.34517463C>ACA373267096DNAI1c.1997C>A (p.Pro666Gln)
c.329+2724C>A
c.785C>A
n.573C>A
c.2009C>A (p.Pro670Gln)
c.1466C>A (p.Pro489Gln)
c.1751C>A (p.Pro584Gln)
c.1739C>A (p.Pro580Gln)
n.2100C>A
9g.34517463C>GCA373267098DNAI1c.1997C>G (p.Pro666Arg)
c.329+2724C>G
c.785C>G
n.573C>G
c.2009C>G (p.Pro670Arg)
c.1466C>G (p.Pro489Arg)
c.1751C>G (p.Pro584Arg)
c.1739C>G (p.Pro580Arg)
n.2100C>G
9g.34517463C>TCA373267100DNAI1c.1997C>T (p.Pro666Leu)
c.329+2724C>T
c.785C>T
n.573C>T
c.2009C>T (p.Pro670Leu)
c.1466C>T (p.Pro489Leu)
c.1751C>T (p.Pro584Leu)
c.1739C>T (p.Pro580Leu)
n.2100C>T
9g.34517464A=CA1845592365DNAI1c.1998A= (p.Pro666=)
c.329+2725A=
c.786A=
n.574A=
c.2010A= (p.Pro670=)
c.1467A= (p.Pro489=)
c.1752A= (p.Pro584=)
c.1740A= (p.Pro580=)
n.2101A=
9g.34517464A>CCA464398418DNAI1c.1998A>C (p.Pro666=)
c.329+2725A>C
c.786A>C
n.574A>C
c.2010A>C (p.Pro670=)
c.1467A>C (p.Pro489=)
c.1752A>C (p.Pro584=)
c.1740A>C (p.Pro580=)
n.2101A>C
9g.34517464A>GCA192653728DNAI1c.1998A>G (p.Pro666=)
c.329+2725A>G
c.786A>G
n.574A>G
c.2010A>G (p.Pro670=)
c.1467A>G (p.Pro489=)
c.1752A>G (p.Pro584=)
c.1740A>G (p.Pro580=)
n.2101A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.34517464A>TCA464398417DNAI1c.1998A>T (p.Pro666=)
c.329+2725A>T
c.786A>T
n.574A>T
c.2010A>T (p.Pro670=)
c.1467A>T (p.Pro489=)
c.1752A>T (p.Pro584=)
c.1740A>T (p.Pro580=)
n.2101A>T
9g.34517466delCA2689798678DNAI1c.2000del (p.Lys667ArgfsTer23)
c.329+2727del
c.788del
n.576del
c.2012del (p.Lys671ArgfsTer23)
c.1469del (p.Lys490ArgfsTer23)
c.1754del (p.Lys585ArgfsTer23)
c.1742del (p.Lys581ArgfsTer23)
n.2103del
 gnomAD v4
9g.34517465A=CA1845592380DNAI1c.1999A= (p.Lys667=)
c.329+2726A=
c.787A=
n.575A=
c.2011A= (p.Lys671=)
c.1468A= (p.Lys490=)
c.1753A= (p.Lys585=)
c.1741A= (p.Lys581=)
n.2102A=
9g.34517465A>CCA373267102DNAI1c.1999A>C (p.Lys667Gln)
c.329+2726A>C
c.787A>C
n.575A>C
c.2011A>C (p.Lys671Gln)
c.1468A>C (p.Lys490Gln)
c.1753A>C (p.Lys585Gln)
c.1741A>C (p.Lys581Gln)
n.2102A>C
9g.34517465A>GCA5034595DNAI1c.1999A>G (p.Lys667Glu)
c.329+2726A>G
c.787A>G
n.575A>G
c.2011A>G (p.Lys671Glu)
c.1468A>G (p.Lys490Glu)
c.1753A>G (p.Lys585Glu)
c.1741A>G (p.Lys581Glu)
n.2102A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517465A>TCA373267104DNAI1c.1999A>T (p.Lys667Ter)
c.329+2726A>T
c.787A>T
n.575A>T
c.2011A>T (p.Lys671Ter)
c.1468A>T (p.Lys490Ter)
c.1753A>T (p.Lys585Ter)
c.1741A>T (p.Lys581Ter)
n.2102A>T
9g.34517466A>CCA373267107DNAI1c.2000A>C (p.Lys667Thr)
c.329+2727A>C
c.788A>C
n.576A>C
c.2012A>C (p.Lys671Thr)
c.1469A>C (p.Lys490Thr)
c.1754A>C (p.Lys585Thr)
c.1742A>C (p.Lys581Thr)
n.2103A>C
9g.34517466A>GCA373267109DNAI1c.2000A>G (p.Lys667Arg)
c.329+2727A>G
c.788A>G
n.576A>G
c.2012A>G (p.Lys671Arg)
c.1469A>G (p.Lys490Arg)
c.1754A>G (p.Lys585Arg)
c.1742A>G (p.Lys581Arg)
n.2103A>G
9g.34517466A>TCA373267111DNAI1c.2000A>T (p.Lys667Met)
c.329+2727A>T
c.788A>T
n.576A>T
c.2012A>T (p.Lys671Met)
c.1469A>T (p.Lys490Met)
c.1754A>T (p.Lys585Met)
c.1742A>T (p.Lys581Met)
n.2103A>T
9g.34517466_34517467insTTCA2580080362DNAI1c.2000_2001insTT (p.Lys667AsnfsTer24)
c.329+2727_329+2728insTT
c.788_789insTT
n.576_577insTT
c.2012_2013insTT (p.Lys671AsnfsTer24)
c.1469_1470insTT (p.Lys490AsnfsTer24)
c.1754_1755insTT (p.Lys585AsnfsTer24)
c.1742_1743insTT (p.Lys581AsnfsTer24)
n.2103_2104insTT
 ClinVar
9g.34517467G>ACA464398419DNAI1c.2001G>A (p.Lys667=)
c.329+2728G>A
c.789G>A
n.577G>A
c.2013G>A (p.Lys671=)
c.1470G>A (p.Lys490=)
c.1755G>A (p.Lys585=)
c.1743G>A (p.Lys581=)
n.2104G>A
9g.34517467G>CCA373267115DNAI1c.2001G>C (p.Lys667Asn)
c.329+2728G>C
c.789G>C
n.577G>C
c.2013G>C (p.Lys671Asn)
c.1470G>C (p.Lys490Asn)
c.1755G>C (p.Lys585Asn)
c.1743G>C (p.Lys581Asn)
n.2104G>C
9g.34517467G>TCA373267112DNAI1c.2001G>T (p.Lys667Asn)
c.329+2728G>T
c.789G>T
n.577G>T
c.2013G>T (p.Lys671Asn)
c.1470G>T (p.Lys490Asn)
c.1755G>T (p.Lys585Asn)
c.1743G>T (p.Lys581Asn)
n.2104G>T
9g.34517468G>ACA345043DNAI1c.2001+1G>A (n.2001+1G>A)
c.329+2729G>A
c.2013+1G>A (n.2013+1G>A)
c.1470+1G>A (n.1470+1G>A)
c.1755+1G>A (n.1755+1G>A)
c.1743+1G>A (n.1743+1G>A)
n.2104+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.34517468G>CCA373267117DNAI1c.2001+1G>C (n.2001+1G>C)
c.329+2729G>C
c.2013+1G>C (n.2013+1G>C)
c.1470+1G>C (n.1470+1G>C)
c.1755+1G>C (n.1755+1G>C)
c.1743+1G>C (n.1743+1G>C)
n.2104+1G>C
9g.34517468G=CA1845592391DNAI1c.2001+1G= (n.2001+1G=)
c.329+2729G=
c.2013+1G= (n.2013+1G=)
c.1470+1G= (n.1470+1G=)
c.1755+1G= (n.1755+1G=)
c.1743+1G= (n.1743+1G=)
n.2104+1G=
9g.34517468G>TCA373267118DNAI1c.2001+1G>T (n.2001+1G>T)
c.329+2729G>T
c.2013+1G>T (n.2013+1G>T)
c.1470+1G>T (n.1470+1G>T)
c.1755+1G>T (n.1755+1G>T)
c.1743+1G>T (n.1743+1G>T)
n.2104+1G>T
 ClinVar
9g.34517469T>ACA373267120DNAI1c.2001+2T>A (n.2001+2T>A)
c.329+2730T>A
c.2013+2T>A (n.2013+2T>A)
c.1470+2T>A (n.1470+2T>A)
c.1755+2T>A (n.1755+2T>A)
c.1743+2T>A (n.1743+2T>A)
n.2104+2T>A
9g.34517469T>CCA373267122DNAI1c.2001+2T>C (n.2001+2T>C)
c.329+2730T>C
c.2013+2T>C (n.2013+2T>C)
c.1470+2T>C (n.1470+2T>C)
c.1755+2T>C (n.1755+2T>C)
c.1743+2T>C (n.1743+2T>C)
n.2104+2T>C
9g.34517469T>GCA373267124DNAI1c.2001+2T>G (n.2001+2T>G)
c.329+2730T>G
c.2013+2T>G (n.2013+2T>G)
c.1470+2T>G (n.1470+2T>G)
c.1755+2T>G (n.1755+2T>G)
c.1743+2T>G (n.1743+2T>G)
n.2104+2T>G
9g.34517471C>TCA2689798679DNAI1c.2001+4C>T (n.2001+4C>T)
c.329+2732C>T
c.2013+4C>T (n.2013+4C>T)
c.1470+4C>T (n.1470+4C>T)
c.1755+4C>T (n.1755+4C>T)
c.1743+4C>T (n.1743+4C>T)
n.2104+4C>T
 gnomAD v4
9g.34517472A=CA1845592403DNAI1c.2001+5A= (n.2001+5A=)
c.329+2733A=
c.2013+5A= (n.2013+5A=)
c.1470+5A= (n.1470+5A=)
c.1755+5A= (n.1755+5A=)
c.1743+5A= (n.1743+5A=)
n.2104+5A=
9g.34517472A>GCA5034596DNAI1c.2001+5A>G (n.2001+5A>G)
c.329+2733A>G
c.2013+5A>G (n.2013+5A>G)
c.1470+5A>G (n.1470+5A>G)
c.1755+5A>G (n.1755+5A>G)
c.1743+5A>G (n.1743+5A>G)
n.2104+5A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517473G>ACA645563555DNAI1c.2001+6G>A (n.2001+6G>A)
c.329+2734G>A
c.2013+6G>A (n.2013+6G>A)
c.1470+6G>A (n.1470+6G>A)
c.1755+6G>A (n.1755+6G>A)
c.1743+6G>A (n.1743+6G>A)
n.2104+6G>A
 COSMIC
9g.34517474G>ACA2499219862DNAI1c.2001+7G>A (n.2001+7G>A)
c.329+2735G>A
c.2013+7G>A (n.2013+7G>A)
c.1470+7G>A (n.1470+7G>A)
c.1755+7G>A (n.1755+7G>A)
c.1743+7G>A (n.1743+7G>A)
n.2104+7G>A
 ClinVar dbSNP gnomAD v4
9g.34517474G>CCA863463066DNAI1c.2001+7G>C (n.2001+7G>C)
c.329+2735G>C
c.2013+7G>C (n.2013+7G>C)
c.1470+7G>C (n.1470+7G>C)
c.1755+7G>C (n.1755+7G>C)
c.1743+7G>C (n.1743+7G>C)
n.2104+7G>C
 ClinVar dbSNP
9g.34517474G=CA1845592413DNAI1c.2001+7G= (n.2001+7G=)
c.329+2735G=
c.2013+7G= (n.2013+7G=)
c.1470+7G= (n.1470+7G=)
c.1755+7G= (n.1755+7G=)
c.1743+7G= (n.1743+7G=)
n.2104+7G=
9g.34517474G>TCA1845592442DNAI1c.2001+7G>T (n.2001+7G>T)
c.329+2735G>T
c.2013+7G>T (n.2013+7G>T)
c.1470+7G>T (n.1470+7G>T)
c.1755+7G>T (n.1755+7G>T)
c.1743+7G>T (n.1743+7G>T)
n.2104+7G>T
 dbSNP
9g.34517476T>CCA2580080363DNAI1c.2001+9T>C (n.2001+9T>C)
c.329+2737T>C
c.2013+9T>C (n.2013+9T>C)
c.1470+9T>C (n.1470+9T>C)
c.1755+9T>C (n.1755+9T>C)
c.1743+9T>C (n.1743+9T>C)
n.2104+9T>C
 ClinVar
9g.34517477C=CA1845592446DNAI1c.2001+10C= (n.2001+10C=)
c.329+2738C=
c.2013+10C= (n.2013+10C=)
c.1470+10C= (n.1470+10C=)
c.1755+10C= (n.1755+10C=)
c.1743+10C= (n.1743+10C=)
n.2104+10C=
9g.34517477C>GCA863463069DNAI1c.2001+10C>G (n.2001+10C>G)
c.329+2738C>G
c.2013+10C>G (n.2013+10C>G)
c.1470+10C>G (n.1470+10C>G)
c.1755+10C>G (n.1755+10C>G)
c.1743+10C>G (n.1743+10C>G)
n.2104+10C>G
 ClinVar dbSNP gnomAD v4
9g.34517477C>TCA2580080364DNAI1c.2001+10C>T (n.2001+10C>T)
c.329+2738C>T
c.2013+10C>T (n.2013+10C>T)
c.1470+10C>T (n.1470+10C>T)
c.1755+10C>T (n.1755+10C>T)
c.1743+10C>T (n.1743+10C>T)
n.2104+10C>T
 ClinVar
9g.34517479G>ACA1845592449DNAI1c.2001+12G>A (n.2001+12G>A)
c.329+2740G>A
c.2013+12G>A (n.2013+12G>A)
c.1470+12G>A (n.1470+12G>A)
c.1755+12G>A (n.1755+12G>A)
c.1743+12G>A (n.1743+12G>A)
n.2104+12G>A
 dbSNP
9g.34517479G=CA1845592448DNAI1c.2001+12G= (n.2001+12G=)
c.329+2740G=
c.2013+12G= (n.2013+12G=)
c.1470+12G= (n.1470+12G=)
c.1755+12G= (n.1755+12G=)
c.1743+12G= (n.1743+12G=)
n.2104+12G=
9g.34517481G>ACA1845592486DNAI1c.2001+14G>A (n.2001+14G>A)
c.329+2742G>A
c.2013+14G>A (n.2013+14G>A)
c.1470+14G>A (n.1470+14G>A)
c.1755+14G>A (n.1755+14G>A)
c.1743+14G>A (n.1743+14G>A)
n.2104+14G>A
 ClinVar dbSNP gnomAD v4
9g.34517481G=CA1845592484DNAI1c.2001+14G= (n.2001+14G=)
c.329+2742G=
c.2013+14G= (n.2013+14G=)
c.1470+14G= (n.1470+14G=)
c.1755+14G= (n.1755+14G=)
c.1743+14G= (n.1743+14G=)
n.2104+14G=
9g.34517483C=CA1845592496DNAI1c.2001+16C= (n.2001+16C=)
c.329+2744C=
c.2013+16C= (n.2013+16C=)
c.1470+16C= (n.1470+16C=)
c.1755+16C= (n.1755+16C=)
c.1743+16C= (n.1743+16C=)
n.2104+16C=
9g.34517483C>TCA1123116816DNAI1c.2001+16C>T (n.2001+16C>T)
c.329+2744C>T
c.2013+16C>T (n.2013+16C>T)
c.1470+16C>T (n.1470+16C>T)
c.1755+16C>T (n.1755+16C>T)
c.1743+16C>T (n.1743+16C>T)
n.2104+16C>T
 dbSNP gnomAD v3 gnomAD v4
9g.34517484T>ACA2719566418DNAI1c.2001+17T>A (n.2001+17T>A)
c.329+2745T>A
c.2013+17T>A (n.2013+17T>A)
c.1470+17T>A (n.1470+17T>A)
c.1755+17T>A (n.1755+17T>A)
c.1743+17T>A (n.1743+17T>A)
n.2104+17T>A
 dbSNP
9g.34517485T>CCA2719127566DNAI1c.2001+18T>C (n.2001+18T>C)
c.329+2746T>C
c.2013+18T>C (n.2013+18T>C)
c.1470+18T>C (n.1470+18T>C)
c.1755+18T>C (n.1755+18T>C)
c.1743+18T>C (n.1743+18T>C)
n.2104+18T>C
 dbSNP
9g.34517485T>GCA5034597DNAI1c.2001+18T>G (n.2001+18T>G)
c.329+2746T>G
c.2013+18T>G (n.2013+18T>G)
c.1470+18T>G (n.1470+18T>G)
c.1755+18T>G (n.1755+18T>G)
c.1743+18T>G (n.1743+18T>G)
n.2104+18T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.34517485T=CA1845592501DNAI1c.2001+18T= (n.2001+18T=)
c.329+2746T=
c.2013+18T= (n.2013+18T=)
c.1470+18T= (n.1470+18T=)
c.1755+18T= (n.1755+18T=)
c.1743+18T= (n.1743+18T=)
n.2104+18T=

Number of alleles fetched