Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.72333628C>ACA450885873RIMS1c.3628C>A (p.Arg1210=)
c.4159C>A (p.Arg1387=)
c.3706C>A (p.Arg1236=)
c.1303C>A (p.Arg435=)
c.2119C>A (p.Arg707=)
c.1570+41582C>A (n.1570+41582C>A)
c.1654C>A (p.Arg552=)
n.254+41582C>A
c.2195C>A
c.1768+41582C>A (n.1768+41582C>A)
c.3508C>A (p.Arg1170=)
c.3403+41582C>A (n.3403+41582C>A)
c.3316+41582C>A (n.3316+41582C>A)
c.912C>A
c.3163+41582C>A (n.3163+41582C>A)
c.1741+41582C>A (n.1741+41582C>A)
c.2332C>A (p.Arg778=)
c.2179C>A (p.Arg727=)
c.2116C>A (p.Arg706=)
c.4105C>A (p.Arg1369=)
c.2077C>A (p.Arg693=)
c.2059C>A (p.Arg687=)
c.1996C>A (p.Arg666=)
c.1927C>A (p.Arg643=)
c.1924C>A (p.Arg642=)
c.1891C>A (p.Arg631=)
c.1810+41582C>A (n.1810+41582C>A)
c.1738+41582C>A (n.1738+41582C>A)
c.1735+41582C>A (n.1735+41582C>A)
c.1720+41582C>A (n.1720+41582C>A)
c.1582+41582C>A (n.1582+41582C>A)
c.451C>A (p.Arg151=)
c.2080C>A (p.Arg694=)
c.2176C>A (p.Arg726=)
c.2125C>A (p.Arg709=)
c.1813+41582C>A (n.1813+41582C>A)
c.2098C>A (p.Arg700=)
c.1585+41582C>A (n.1585+41582C>A)
c.2233C>A (p.Arg745=)
c.1978C>A (p.Arg660=)
c.1867C>A (p.Arg623=)
c.1672+41582C>A (n.1672+41582C>A)
c.1660+41582C>A (n.1660+41582C>A)
c.1744+41582C>A (n.1744+41582C>A)
c.1897C>A (p.Arg633=)
c.2215C>A (p.Arg739=)
c.1648+41582C>A (n.1648+41582C>A)
c.2206C>A (p.Arg736=)
c.1888+41582C>A (n.1888+41582C>A)
c.2068C>A (p.Arg690=)
c.2311C>A (p.Arg771=)
c.2062C>A (p.Arg688=)
c.1993+41582C>A (n.1993+41582C>A)
c.2050C>A (p.Arg684=)
c.1657+41582C>A (n.1657+41582C>A)
c.2047C>A (p.Arg683=)
c.1996+41582C>A (n.1996+41582C>A)
c.2020C>A (p.Arg674=)
c.1894C>A (p.Arg632=)
c.1894+41582C>A (n.1894+41582C>A)
c.2305C>A (p.Arg769=)
c.1966C>A (p.Arg656=)
c.2122C>A (p.Arg708=)
c.1669+41582C>A (n.1669+41582C>A)
c.2029C>A (p.Arg677=)
c.1588+41582C>A (n.1588+41582C>A)
c.2302C>A (p.Arg768=)
c.2128C>A (p.Arg710=)
c.1981C>A (p.Arg661=)
c.1999C>A (p.Arg667=)
c.1849C>A (p.Arg617=)
c.2164C>A (p.Arg722=)
c.1804C>A (p.Arg602=)
c.1807C>A (p.Arg603=)
c.1498+41582C>A (n.1498+41582C>A)
c.1810C>A (p.Arg604=)
c.1726C>A (p.Arg576=)
c.1651C>A (p.Arg551=)
c.1879C>A (p.Arg627=)
c.1774+41582C>A (n.1774+41582C>A)
c.1960C>A (p.Arg654=)
c.1693+41582C>A (n.1693+41582C>A)
c.1696+41582C>A (n.1696+41582C>A)
c.1852C>A (p.Arg618=)
c.3697C>A (p.Arg1233=)
c.3946C>A (p.Arg1316=)
c.3853C>A (p.Arg1285=)
c.3850C>A (p.Arg1284=)
c.3793C>A (p.Arg1265=)
c.3781C>A (p.Arg1261=)
c.3763C>A (p.Arg1255=)
c.3700C>A (p.Arg1234=)
c.3673C>A (p.Arg1225=)
c.3655C>A (p.Arg1219=)
c.3640C>A (p.Arg1214=)
c.3625C>A (p.Arg1209=)
c.2203C>A (p.Arg735=)
c.2023C>A (p.Arg675=)
c.277C>A (p.Arg93=)
c.109C>A (p.Arg37=)
c.4033C>A (p.Arg1345=)
c.3670C>A (p.Arg1224=)
c.3631C>A (p.Arg1211=)
c.2200C>A (p.Arg734=)
 gnomAD v4
6g.72333628C=CA1637650200RIMS1c.3628C= (p.Arg1210=)
c.4159C= (p.Arg1387=)
c.3706C= (p.Arg1236=)
c.1303C= (p.Arg435=)
c.2119C= (p.Arg707=)
c.1570+41582C= (n.1570+41582C=)
c.1654C= (p.Arg552=)
n.254+41582C=
c.2195C=
c.1768+41582C= (n.1768+41582C=)
c.3508C= (p.Arg1170=)
c.3403+41582C= (n.3403+41582C=)
c.3316+41582C= (n.3316+41582C=)
c.912C=
c.3163+41582C= (n.3163+41582C=)
c.1741+41582C= (n.1741+41582C=)
c.2332C= (p.Arg778=)
c.2179C= (p.Arg727=)
c.2116C= (p.Arg706=)
c.4105C= (p.Arg1369=)
c.2077C= (p.Arg693=)
c.2059C= (p.Arg687=)
c.1996C= (p.Arg666=)
c.1927C= (p.Arg643=)
c.1924C= (p.Arg642=)
c.1891C= (p.Arg631=)
c.1810+41582C= (n.1810+41582C=)
c.1738+41582C= (n.1738+41582C=)
c.1735+41582C= (n.1735+41582C=)
c.1720+41582C= (n.1720+41582C=)
c.1582+41582C= (n.1582+41582C=)
c.451C= (p.Arg151=)
c.2080C= (p.Arg694=)
c.2176C= (p.Arg726=)
c.2125C= (p.Arg709=)
c.1813+41582C= (n.1813+41582C=)
c.2098C= (p.Arg700=)
c.1585+41582C= (n.1585+41582C=)
c.2233C= (p.Arg745=)
c.1978C= (p.Arg660=)
c.1867C= (p.Arg623=)
c.1672+41582C= (n.1672+41582C=)
c.1660+41582C= (n.1660+41582C=)
c.1744+41582C= (n.1744+41582C=)
c.1897C= (p.Arg633=)
c.2215C= (p.Arg739=)
c.1648+41582C= (n.1648+41582C=)
c.2206C= (p.Arg736=)
c.1888+41582C= (n.1888+41582C=)
c.2068C= (p.Arg690=)
c.2311C= (p.Arg771=)
c.2062C= (p.Arg688=)
c.1993+41582C= (n.1993+41582C=)
c.2050C= (p.Arg684=)
c.1657+41582C= (n.1657+41582C=)
c.2047C= (p.Arg683=)
c.1996+41582C= (n.1996+41582C=)
c.2020C= (p.Arg674=)
c.1894C= (p.Arg632=)
c.1894+41582C= (n.1894+41582C=)
c.2305C= (p.Arg769=)
c.1966C= (p.Arg656=)
c.2122C= (p.Arg708=)
c.1669+41582C= (n.1669+41582C=)
c.2029C= (p.Arg677=)
c.1588+41582C= (n.1588+41582C=)
c.2302C= (p.Arg768=)
c.2128C= (p.Arg710=)
c.1981C= (p.Arg661=)
c.1999C= (p.Arg667=)
c.1849C= (p.Arg617=)
c.2164C= (p.Arg722=)
c.1804C= (p.Arg602=)
c.1807C= (p.Arg603=)
c.1498+41582C= (n.1498+41582C=)
c.1810C= (p.Arg604=)
c.1726C= (p.Arg576=)
c.1651C= (p.Arg551=)
c.1879C= (p.Arg627=)
c.1774+41582C= (n.1774+41582C=)
c.1960C= (p.Arg654=)
c.1693+41582C= (n.1693+41582C=)
c.1696+41582C= (n.1696+41582C=)
c.1852C= (p.Arg618=)
c.3697C= (p.Arg1233=)
c.3946C= (p.Arg1316=)
c.3853C= (p.Arg1285=)
c.3850C= (p.Arg1284=)
c.3793C= (p.Arg1265=)
c.3781C= (p.Arg1261=)
c.3763C= (p.Arg1255=)
c.3700C= (p.Arg1234=)
c.3673C= (p.Arg1225=)
c.3655C= (p.Arg1219=)
c.3640C= (p.Arg1214=)
c.3625C= (p.Arg1209=)
c.2203C= (p.Arg735=)
c.2023C= (p.Arg675=)
c.277C= (p.Arg93=)
c.109C= (p.Arg37=)
c.4033C= (p.Arg1345=)
c.3670C= (p.Arg1224=)
c.3631C= (p.Arg1211=)
c.2200C= (p.Arg734=)
6g.72333628C>GCA364692697RIMS1c.3628C>G (p.Arg1210Gly)
c.4159C>G (p.Arg1387Gly)
c.3706C>G (p.Arg1236Gly)
c.1303C>G (p.Arg435Gly)
c.2119C>G (p.Arg707Gly)
c.1570+41582C>G (n.1570+41582C>G)
c.1654C>G (p.Arg552Gly)
n.254+41582C>G
c.2195C>G
c.1768+41582C>G (n.1768+41582C>G)
c.3508C>G (p.Arg1170Gly)
c.3403+41582C>G (n.3403+41582C>G)
c.3316+41582C>G (n.3316+41582C>G)
c.912C>G
c.3163+41582C>G (n.3163+41582C>G)
c.1741+41582C>G (n.1741+41582C>G)
c.2332C>G (p.Arg778Gly)
c.2179C>G (p.Arg727Gly)
c.2116C>G (p.Arg706Gly)
c.4105C>G (p.Arg1369Gly)
c.2077C>G (p.Arg693Gly)
c.2059C>G (p.Arg687Gly)
c.1996C>G (p.Arg666Gly)
c.1927C>G (p.Arg643Gly)
c.1924C>G (p.Arg642Gly)
c.1891C>G (p.Arg631Gly)
c.1810+41582C>G (n.1810+41582C>G)
c.1738+41582C>G (n.1738+41582C>G)
c.1735+41582C>G (n.1735+41582C>G)
c.1720+41582C>G (n.1720+41582C>G)
c.1582+41582C>G (n.1582+41582C>G)
c.451C>G (p.Arg151Gly)
c.2080C>G (p.Arg694Gly)
c.2176C>G (p.Arg726Gly)
c.2125C>G (p.Arg709Gly)
c.1813+41582C>G (n.1813+41582C>G)
c.2098C>G (p.Arg700Gly)
c.1585+41582C>G (n.1585+41582C>G)
c.2233C>G (p.Arg745Gly)
c.1978C>G (p.Arg660Gly)
c.1867C>G (p.Arg623Gly)
c.1672+41582C>G (n.1672+41582C>G)
c.1660+41582C>G (n.1660+41582C>G)
c.1744+41582C>G (n.1744+41582C>G)
c.1897C>G (p.Arg633Gly)
c.2215C>G (p.Arg739Gly)
c.1648+41582C>G (n.1648+41582C>G)
c.2206C>G (p.Arg736Gly)
c.1888+41582C>G (n.1888+41582C>G)
c.2068C>G (p.Arg690Gly)
c.2311C>G (p.Arg771Gly)
c.2062C>G (p.Arg688Gly)
c.1993+41582C>G (n.1993+41582C>G)
c.2050C>G (p.Arg684Gly)
c.1657+41582C>G (n.1657+41582C>G)
c.2047C>G (p.Arg683Gly)
c.1996+41582C>G (n.1996+41582C>G)
c.2020C>G (p.Arg674Gly)
c.1894C>G (p.Arg632Gly)
c.1894+41582C>G (n.1894+41582C>G)
c.2305C>G (p.Arg769Gly)
c.1966C>G (p.Arg656Gly)
c.2122C>G (p.Arg708Gly)
c.1669+41582C>G (n.1669+41582C>G)
c.2029C>G (p.Arg677Gly)
c.1588+41582C>G (n.1588+41582C>G)
c.2302C>G (p.Arg768Gly)
c.2128C>G (p.Arg710Gly)
c.1981C>G (p.Arg661Gly)
c.1999C>G (p.Arg667Gly)
c.1849C>G (p.Arg617Gly)
c.2164C>G (p.Arg722Gly)
c.1804C>G (p.Arg602Gly)
c.1807C>G (p.Arg603Gly)
c.1498+41582C>G (n.1498+41582C>G)
c.1810C>G (p.Arg604Gly)
c.1726C>G (p.Arg576Gly)
c.1651C>G (p.Arg551Gly)
c.1879C>G (p.Arg627Gly)
c.1774+41582C>G (n.1774+41582C>G)
c.1960C>G (p.Arg654Gly)
c.1693+41582C>G (n.1693+41582C>G)
c.1696+41582C>G (n.1696+41582C>G)
c.1852C>G (p.Arg618Gly)
c.3697C>G (p.Arg1233Gly)
c.3946C>G (p.Arg1316Gly)
c.3853C>G (p.Arg1285Gly)
c.3850C>G (p.Arg1284Gly)
c.3793C>G (p.Arg1265Gly)
c.3781C>G (p.Arg1261Gly)
c.3763C>G (p.Arg1255Gly)
c.3700C>G (p.Arg1234Gly)
c.3673C>G (p.Arg1225Gly)
c.3655C>G (p.Arg1219Gly)
c.3640C>G (p.Arg1214Gly)
c.3625C>G (p.Arg1209Gly)
c.2203C>G (p.Arg735Gly)
c.2023C>G (p.Arg675Gly)
c.277C>G (p.Arg93Gly)
c.109C>G (p.Arg37Gly)
c.4033C>G (p.Arg1345Gly)
c.3670C>G (p.Arg1224Gly)
c.3631C>G (p.Arg1211Gly)
c.2200C>G (p.Arg734Gly)
6g.72333628C>TCA3886457RIMS1c.3628C>T (p.Arg1210Trp)
c.4159C>T (p.Arg1387Trp)
c.3706C>T (p.Arg1236Trp)
c.1303C>T (p.Arg435Trp)
c.2119C>T (p.Arg707Trp)
c.1570+41582C>T (n.1570+41582C>T)
c.1654C>T (p.Arg552Trp)
n.254+41582C>T
c.2195C>T
c.1768+41582C>T (n.1768+41582C>T)
c.3508C>T (p.Arg1170Trp)
c.3403+41582C>T (n.3403+41582C>T)
c.3316+41582C>T (n.3316+41582C>T)
c.912C>T
c.3163+41582C>T (n.3163+41582C>T)
c.1741+41582C>T (n.1741+41582C>T)
c.2332C>T (p.Arg778Trp)
c.2179C>T (p.Arg727Trp)
c.2116C>T (p.Arg706Trp)
c.4105C>T (p.Arg1369Trp)
c.2077C>T (p.Arg693Trp)
c.2059C>T (p.Arg687Trp)
c.1996C>T (p.Arg666Trp)
c.1927C>T (p.Arg643Trp)
c.1924C>T (p.Arg642Trp)
c.1891C>T (p.Arg631Trp)
c.1810+41582C>T (n.1810+41582C>T)
c.1738+41582C>T (n.1738+41582C>T)
c.1735+41582C>T (n.1735+41582C>T)
c.1720+41582C>T (n.1720+41582C>T)
c.1582+41582C>T (n.1582+41582C>T)
c.451C>T (p.Arg151Trp)
c.2080C>T (p.Arg694Trp)
c.2176C>T (p.Arg726Trp)
c.2125C>T (p.Arg709Trp)
c.1813+41582C>T (n.1813+41582C>T)
c.2098C>T (p.Arg700Trp)
c.1585+41582C>T (n.1585+41582C>T)
c.2233C>T (p.Arg745Trp)
c.1978C>T (p.Arg660Trp)
c.1867C>T (p.Arg623Trp)
c.1672+41582C>T (n.1672+41582C>T)
c.1660+41582C>T (n.1660+41582C>T)
c.1744+41582C>T (n.1744+41582C>T)
c.1897C>T (p.Arg633Trp)
c.2215C>T (p.Arg739Trp)
c.1648+41582C>T (n.1648+41582C>T)
c.2206C>T (p.Arg736Trp)
c.1888+41582C>T (n.1888+41582C>T)
c.2068C>T (p.Arg690Trp)
c.2311C>T (p.Arg771Trp)
c.2062C>T (p.Arg688Trp)
c.1993+41582C>T (n.1993+41582C>T)
c.2050C>T (p.Arg684Trp)
c.1657+41582C>T (n.1657+41582C>T)
c.2047C>T (p.Arg683Trp)
c.1996+41582C>T (n.1996+41582C>T)
c.2020C>T (p.Arg674Trp)
c.1894C>T (p.Arg632Trp)
c.1894+41582C>T (n.1894+41582C>T)
c.2305C>T (p.Arg769Trp)
c.1966C>T (p.Arg656Trp)
c.2122C>T (p.Arg708Trp)
c.1669+41582C>T (n.1669+41582C>T)
c.2029C>T (p.Arg677Trp)
c.1588+41582C>T (n.1588+41582C>T)
c.2302C>T (p.Arg768Trp)
c.2128C>T (p.Arg710Trp)
c.1981C>T (p.Arg661Trp)
c.1999C>T (p.Arg667Trp)
c.1849C>T (p.Arg617Trp)
c.2164C>T (p.Arg722Trp)
c.1804C>T (p.Arg602Trp)
c.1807C>T (p.Arg603Trp)
c.1498+41582C>T (n.1498+41582C>T)
c.1810C>T (p.Arg604Trp)
c.1726C>T (p.Arg576Trp)
c.1651C>T (p.Arg551Trp)
c.1879C>T (p.Arg627Trp)
c.1774+41582C>T (n.1774+41582C>T)
c.1960C>T (p.Arg654Trp)
c.1693+41582C>T (n.1693+41582C>T)
c.1696+41582C>T (n.1696+41582C>T)
c.1852C>T (p.Arg618Trp)
c.3697C>T (p.Arg1233Trp)
c.3946C>T (p.Arg1316Trp)
c.3853C>T (p.Arg1285Trp)
c.3850C>T (p.Arg1284Trp)
c.3793C>T (p.Arg1265Trp)
c.3781C>T (p.Arg1261Trp)
c.3763C>T (p.Arg1255Trp)
c.3700C>T (p.Arg1234Trp)
c.3673C>T (p.Arg1225Trp)
c.3655C>T (p.Arg1219Trp)
c.3640C>T (p.Arg1214Trp)
c.3625C>T (p.Arg1209Trp)
c.2203C>T (p.Arg735Trp)
c.2023C>T (p.Arg675Trp)
c.277C>T (p.Arg93Trp)
c.109C>T (p.Arg37Trp)
c.4033C>T (p.Arg1345Trp)
c.3670C>T (p.Arg1224Trp)
c.3631C>T (p.Arg1211Trp)
c.2200C>T (p.Arg734Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.72333629G>ACA3886458RIMS1c.3629G>A (p.Arg1210Gln)
c.4160G>A (p.Arg1387Gln)
c.3707G>A (p.Arg1236Gln)
c.1304G>A (p.Arg435Gln)
c.2120G>A (p.Arg707Gln)
c.1570+41583G>A (n.1570+41583G>A)
c.1655G>A (p.Arg552Gln)
n.254+41583G>A
c.2196G>A
c.1768+41583G>A (n.1768+41583G>A)
c.3509G>A (p.Arg1170Gln)
c.3403+41583G>A (n.3403+41583G>A)
c.3316+41583G>A (n.3316+41583G>A)
c.913G>A
c.3163+41583G>A (n.3163+41583G>A)
c.1741+41583G>A (n.1741+41583G>A)
c.2333G>A (p.Arg778Gln)
c.2180G>A (p.Arg727Gln)
c.2117G>A (p.Arg706Gln)
c.4106G>A (p.Arg1369Gln)
c.2078G>A (p.Arg693Gln)
c.2060G>A (p.Arg687Gln)
c.1997G>A (p.Arg666Gln)
c.1928G>A (p.Arg643Gln)
c.1925G>A (p.Arg642Gln)
c.1892G>A (p.Arg631Gln)
c.1810+41583G>A (n.1810+41583G>A)
c.1738+41583G>A (n.1738+41583G>A)
c.1735+41583G>A (n.1735+41583G>A)
c.1720+41583G>A (n.1720+41583G>A)
c.1582+41583G>A (n.1582+41583G>A)
c.452G>A (p.Arg151Gln)
c.2081G>A (p.Arg694Gln)
c.2177G>A (p.Arg726Gln)
c.2126G>A (p.Arg709Gln)
c.1813+41583G>A (n.1813+41583G>A)
c.2099G>A (p.Arg700Gln)
c.1585+41583G>A (n.1585+41583G>A)
c.2234G>A (p.Arg745Gln)
c.1979G>A (p.Arg660Gln)
c.1868G>A (p.Arg623Gln)
c.1672+41583G>A (n.1672+41583G>A)
c.1660+41583G>A (n.1660+41583G>A)
c.1744+41583G>A (n.1744+41583G>A)
c.1898G>A (p.Arg633Gln)
c.2216G>A (p.Arg739Gln)
c.1648+41583G>A (n.1648+41583G>A)
c.2207G>A (p.Arg736Gln)
c.1888+41583G>A (n.1888+41583G>A)
c.2069G>A (p.Arg690Gln)
c.2312G>A (p.Arg771Gln)
c.2063G>A (p.Arg688Gln)
c.1993+41583G>A (n.1993+41583G>A)
c.2051G>A (p.Arg684Gln)
c.1657+41583G>A (n.1657+41583G>A)
c.2048G>A (p.Arg683Gln)
c.1996+41583G>A (n.1996+41583G>A)
c.2021G>A (p.Arg674Gln)
c.1895G>A (p.Arg632Gln)
c.1894+41583G>A (n.1894+41583G>A)
c.2306G>A (p.Arg769Gln)
c.1967G>A (p.Arg656Gln)
c.2123G>A (p.Arg708Gln)
c.1669+41583G>A (n.1669+41583G>A)
c.2030G>A (p.Arg677Gln)
c.1588+41583G>A (n.1588+41583G>A)
c.2303G>A (p.Arg768Gln)
c.2129G>A (p.Arg710Gln)
c.1982G>A (p.Arg661Gln)
c.2000G>A (p.Arg667Gln)
c.1850G>A (p.Arg617Gln)
c.2165G>A (p.Arg722Gln)
c.1805G>A (p.Arg602Gln)
c.1808G>A (p.Arg603Gln)
c.1498+41583G>A (n.1498+41583G>A)
c.1811G>A (p.Arg604Gln)
c.1727G>A (p.Arg576Gln)
c.1652G>A (p.Arg551Gln)
c.1880G>A (p.Arg627Gln)
c.1774+41583G>A (n.1774+41583G>A)
c.1961G>A (p.Arg654Gln)
c.1693+41583G>A (n.1693+41583G>A)
c.1696+41583G>A (n.1696+41583G>A)
c.1853G>A (p.Arg618Gln)
c.3698G>A (p.Arg1233Gln)
c.3947G>A (p.Arg1316Gln)
c.3854G>A (p.Arg1285Gln)
c.3851G>A (p.Arg1284Gln)
c.3794G>A (p.Arg1265Gln)
c.3782G>A (p.Arg1261Gln)
c.3764G>A (p.Arg1255Gln)
c.3701G>A (p.Arg1234Gln)
c.3674G>A (p.Arg1225Gln)
c.3656G>A (p.Arg1219Gln)
c.3641G>A (p.Arg1214Gln)
c.3626G>A (p.Arg1209Gln)
c.2204G>A (p.Arg735Gln)
c.2024G>A (p.Arg675Gln)
c.278G>A (p.Arg93Gln)
c.110G>A (p.Arg37Gln)
c.4034G>A (p.Arg1345Gln)
c.3671G>A (p.Arg1224Gln)
c.3632G>A (p.Arg1211Gln)
c.2201G>A (p.Arg734Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.72333629G>CCA364692698RIMS1c.3629G>C (p.Arg1210Pro)
c.4160G>C (p.Arg1387Pro)
c.3707G>C (p.Arg1236Pro)
c.1304G>C (p.Arg435Pro)
c.2120G>C (p.Arg707Pro)
c.1570+41583G>C (n.1570+41583G>C)
c.1655G>C (p.Arg552Pro)
n.254+41583G>C
c.2196G>C
c.1768+41583G>C (n.1768+41583G>C)
c.3509G>C (p.Arg1170Pro)
c.3403+41583G>C (n.3403+41583G>C)
c.3316+41583G>C (n.3316+41583G>C)
c.913G>C
c.3163+41583G>C (n.3163+41583G>C)
c.1741+41583G>C (n.1741+41583G>C)
c.2333G>C (p.Arg778Pro)
c.2180G>C (p.Arg727Pro)
c.2117G>C (p.Arg706Pro)
c.4106G>C (p.Arg1369Pro)
c.2078G>C (p.Arg693Pro)
c.2060G>C (p.Arg687Pro)
c.1997G>C (p.Arg666Pro)
c.1928G>C (p.Arg643Pro)
c.1925G>C (p.Arg642Pro)
c.1892G>C (p.Arg631Pro)
c.1810+41583G>C (n.1810+41583G>C)
c.1738+41583G>C (n.1738+41583G>C)
c.1735+41583G>C (n.1735+41583G>C)
c.1720+41583G>C (n.1720+41583G>C)
c.1582+41583G>C (n.1582+41583G>C)
c.452G>C (p.Arg151Pro)
c.2081G>C (p.Arg694Pro)
c.2177G>C (p.Arg726Pro)
c.2126G>C (p.Arg709Pro)
c.1813+41583G>C (n.1813+41583G>C)
c.2099G>C (p.Arg700Pro)
c.1585+41583G>C (n.1585+41583G>C)
c.2234G>C (p.Arg745Pro)
c.1979G>C (p.Arg660Pro)
c.1868G>C (p.Arg623Pro)
c.1672+41583G>C (n.1672+41583G>C)
c.1660+41583G>C (n.1660+41583G>C)
c.1744+41583G>C (n.1744+41583G>C)
c.1898G>C (p.Arg633Pro)
c.2216G>C (p.Arg739Pro)
c.1648+41583G>C (n.1648+41583G>C)
c.2207G>C (p.Arg736Pro)
c.1888+41583G>C (n.1888+41583G>C)
c.2069G>C (p.Arg690Pro)
c.2312G>C (p.Arg771Pro)
c.2063G>C (p.Arg688Pro)
c.1993+41583G>C (n.1993+41583G>C)
c.2051G>C (p.Arg684Pro)
c.1657+41583G>C (n.1657+41583G>C)
c.2048G>C (p.Arg683Pro)
c.1996+41583G>C (n.1996+41583G>C)
c.2021G>C (p.Arg674Pro)
c.1895G>C (p.Arg632Pro)
c.1894+41583G>C (n.1894+41583G>C)
c.2306G>C (p.Arg769Pro)
c.1967G>C (p.Arg656Pro)
c.2123G>C (p.Arg708Pro)
c.1669+41583G>C (n.1669+41583G>C)
c.2030G>C (p.Arg677Pro)
c.1588+41583G>C (n.1588+41583G>C)
c.2303G>C (p.Arg768Pro)
c.2129G>C (p.Arg710Pro)
c.1982G>C (p.Arg661Pro)
c.2000G>C (p.Arg667Pro)
c.1850G>C (p.Arg617Pro)
c.2165G>C (p.Arg722Pro)
c.1805G>C (p.Arg602Pro)
c.1808G>C (p.Arg603Pro)
c.1498+41583G>C (n.1498+41583G>C)
c.1811G>C (p.Arg604Pro)
c.1727G>C (p.Arg576Pro)
c.1652G>C (p.Arg551Pro)
c.1880G>C (p.Arg627Pro)
c.1774+41583G>C (n.1774+41583G>C)
c.1961G>C (p.Arg654Pro)
c.1693+41583G>C (n.1693+41583G>C)
c.1696+41583G>C (n.1696+41583G>C)
c.1853G>C (p.Arg618Pro)
c.3698G>C (p.Arg1233Pro)
c.3947G>C (p.Arg1316Pro)
c.3854G>C (p.Arg1285Pro)
c.3851G>C (p.Arg1284Pro)
c.3794G>C (p.Arg1265Pro)
c.3782G>C (p.Arg1261Pro)
c.3764G>C (p.Arg1255Pro)
c.3701G>C (p.Arg1234Pro)
c.3674G>C (p.Arg1225Pro)
c.3656G>C (p.Arg1219Pro)
c.3641G>C (p.Arg1214Pro)
c.3626G>C (p.Arg1209Pro)
c.2204G>C (p.Arg735Pro)
c.2024G>C (p.Arg675Pro)
c.278G>C (p.Arg93Pro)
c.110G>C (p.Arg37Pro)
c.4034G>C (p.Arg1345Pro)
c.3671G>C (p.Arg1224Pro)
c.3632G>C (p.Arg1211Pro)
c.2201G>C (p.Arg734Pro)
6g.72333629G=CA1637650205RIMS1c.3629G= (p.Arg1210=)
c.4160G= (p.Arg1387=)
c.3707G= (p.Arg1236=)
c.1304G= (p.Arg435=)
c.2120G= (p.Arg707=)
c.1570+41583G= (n.1570+41583G=)
c.1655G= (p.Arg552=)
n.254+41583G=
c.2196G=
c.1768+41583G= (n.1768+41583G=)
c.3509G= (p.Arg1170=)
c.3403+41583G= (n.3403+41583G=)
c.3316+41583G= (n.3316+41583G=)
c.913G=
c.3163+41583G= (n.3163+41583G=)
c.1741+41583G= (n.1741+41583G=)
c.2333G= (p.Arg778=)
c.2180G= (p.Arg727=)
c.2117G= (p.Arg706=)
c.4106G= (p.Arg1369=)
c.2078G= (p.Arg693=)
c.2060G= (p.Arg687=)
c.1997G= (p.Arg666=)
c.1928G= (p.Arg643=)
c.1925G= (p.Arg642=)
c.1892G= (p.Arg631=)
c.1810+41583G= (n.1810+41583G=)
c.1738+41583G= (n.1738+41583G=)
c.1735+41583G= (n.1735+41583G=)
c.1720+41583G= (n.1720+41583G=)
c.1582+41583G= (n.1582+41583G=)
c.452G= (p.Arg151=)
c.2081G= (p.Arg694=)
c.2177G= (p.Arg726=)
c.2126G= (p.Arg709=)
c.1813+41583G= (n.1813+41583G=)
c.2099G= (p.Arg700=)
c.1585+41583G= (n.1585+41583G=)
c.2234G= (p.Arg745=)
c.1979G= (p.Arg660=)
c.1868G= (p.Arg623=)
c.1672+41583G= (n.1672+41583G=)
c.1660+41583G= (n.1660+41583G=)
c.1744+41583G= (n.1744+41583G=)
c.1898G= (p.Arg633=)
c.2216G= (p.Arg739=)
c.1648+41583G= (n.1648+41583G=)
c.2207G= (p.Arg736=)
c.1888+41583G= (n.1888+41583G=)
c.2069G= (p.Arg690=)
c.2312G= (p.Arg771=)
c.2063G= (p.Arg688=)
c.1993+41583G= (n.1993+41583G=)
c.2051G= (p.Arg684=)
c.1657+41583G= (n.1657+41583G=)
c.2048G= (p.Arg683=)
c.1996+41583G= (n.1996+41583G=)
c.2021G= (p.Arg674=)
c.1895G= (p.Arg632=)
c.1894+41583G= (n.1894+41583G=)
c.2306G= (p.Arg769=)
c.1967G= (p.Arg656=)
c.2123G= (p.Arg708=)
c.1669+41583G= (n.1669+41583G=)
c.2030G= (p.Arg677=)
c.1588+41583G= (n.1588+41583G=)
c.2303G= (p.Arg768=)
c.2129G= (p.Arg710=)
c.1982G= (p.Arg661=)
c.2000G= (p.Arg667=)
c.1850G= (p.Arg617=)
c.2165G= (p.Arg722=)
c.1805G= (p.Arg602=)
c.1808G= (p.Arg603=)
c.1498+41583G= (n.1498+41583G=)
c.1811G= (p.Arg604=)
c.1727G= (p.Arg576=)
c.1652G= (p.Arg551=)
c.1880G= (p.Arg627=)
c.1774+41583G= (n.1774+41583G=)
c.1961G= (p.Arg654=)
c.1693+41583G= (n.1693+41583G=)
c.1696+41583G= (n.1696+41583G=)
c.1853G= (p.Arg618=)
c.3698G= (p.Arg1233=)
c.3947G= (p.Arg1316=)
c.3854G= (p.Arg1285=)
c.3851G= (p.Arg1284=)
c.3794G= (p.Arg1265=)
c.3782G= (p.Arg1261=)
c.3764G= (p.Arg1255=)
c.3701G= (p.Arg1234=)
c.3674G= (p.Arg1225=)
c.3656G= (p.Arg1219=)
c.3641G= (p.Arg1214=)
c.3626G= (p.Arg1209=)
c.2204G= (p.Arg735=)
c.2024G= (p.Arg675=)
c.278G= (p.Arg93=)
c.110G= (p.Arg37=)
c.4034G= (p.Arg1345=)
c.3671G= (p.Arg1224=)
c.3632G= (p.Arg1211=)
c.2201G= (p.Arg734=)
6g.72333629G>TCA140893806RIMS1c.3629G>T (p.Arg1210Leu)
c.4160G>T (p.Arg1387Leu)
c.3707G>T (p.Arg1236Leu)
c.1304G>T (p.Arg435Leu)
c.2120G>T (p.Arg707Leu)
c.1570+41583G>T (n.1570+41583G>T)
c.1655G>T (p.Arg552Leu)
n.254+41583G>T
c.2196G>T
c.1768+41583G>T (n.1768+41583G>T)
c.3509G>T (p.Arg1170Leu)
c.3403+41583G>T (n.3403+41583G>T)
c.3316+41583G>T (n.3316+41583G>T)
c.913G>T
c.3163+41583G>T (n.3163+41583G>T)
c.1741+41583G>T (n.1741+41583G>T)
c.2333G>T (p.Arg778Leu)
c.2180G>T (p.Arg727Leu)
c.2117G>T (p.Arg706Leu)
c.4106G>T (p.Arg1369Leu)
c.2078G>T (p.Arg693Leu)
c.2060G>T (p.Arg687Leu)
c.1997G>T (p.Arg666Leu)
c.1928G>T (p.Arg643Leu)
c.1925G>T (p.Arg642Leu)
c.1892G>T (p.Arg631Leu)
c.1810+41583G>T (n.1810+41583G>T)
c.1738+41583G>T (n.1738+41583G>T)
c.1735+41583G>T (n.1735+41583G>T)
c.1720+41583G>T (n.1720+41583G>T)
c.1582+41583G>T (n.1582+41583G>T)
c.452G>T (p.Arg151Leu)
c.2081G>T (p.Arg694Leu)
c.2177G>T (p.Arg726Leu)
c.2126G>T (p.Arg709Leu)
c.1813+41583G>T (n.1813+41583G>T)
c.2099G>T (p.Arg700Leu)
c.1585+41583G>T (n.1585+41583G>T)
c.2234G>T (p.Arg745Leu)
c.1979G>T (p.Arg660Leu)
c.1868G>T (p.Arg623Leu)
c.1672+41583G>T (n.1672+41583G>T)
c.1660+41583G>T (n.1660+41583G>T)
c.1744+41583G>T (n.1744+41583G>T)
c.1898G>T (p.Arg633Leu)
c.2216G>T (p.Arg739Leu)
c.1648+41583G>T (n.1648+41583G>T)
c.2207G>T (p.Arg736Leu)
c.1888+41583G>T (n.1888+41583G>T)
c.2069G>T (p.Arg690Leu)
c.2312G>T (p.Arg771Leu)
c.2063G>T (p.Arg688Leu)
c.1993+41583G>T (n.1993+41583G>T)
c.2051G>T (p.Arg684Leu)
c.1657+41583G>T (n.1657+41583G>T)
c.2048G>T (p.Arg683Leu)
c.1996+41583G>T (n.1996+41583G>T)
c.2021G>T (p.Arg674Leu)
c.1895G>T (p.Arg632Leu)
c.1894+41583G>T (n.1894+41583G>T)
c.2306G>T (p.Arg769Leu)
c.1967G>T (p.Arg656Leu)
c.2123G>T (p.Arg708Leu)
c.1669+41583G>T (n.1669+41583G>T)
c.2030G>T (p.Arg677Leu)
c.1588+41583G>T (n.1588+41583G>T)
c.2303G>T (p.Arg768Leu)
c.2129G>T (p.Arg710Leu)
c.1982G>T (p.Arg661Leu)
c.2000G>T (p.Arg667Leu)
c.1850G>T (p.Arg617Leu)
c.2165G>T (p.Arg722Leu)
c.1805G>T (p.Arg602Leu)
c.1808G>T (p.Arg603Leu)
c.1498+41583G>T (n.1498+41583G>T)
c.1811G>T (p.Arg604Leu)
c.1727G>T (p.Arg576Leu)
c.1652G>T (p.Arg551Leu)
c.1880G>T (p.Arg627Leu)
c.1774+41583G>T (n.1774+41583G>T)
c.1961G>T (p.Arg654Leu)
c.1693+41583G>T (n.1693+41583G>T)
c.1696+41583G>T (n.1696+41583G>T)
c.1853G>T (p.Arg618Leu)
c.3698G>T (p.Arg1233Leu)
c.3947G>T (p.Arg1316Leu)
c.3854G>T (p.Arg1285Leu)
c.3851G>T (p.Arg1284Leu)
c.3794G>T (p.Arg1265Leu)
c.3782G>T (p.Arg1261Leu)
c.3764G>T (p.Arg1255Leu)
c.3701G>T (p.Arg1234Leu)
c.3674G>T (p.Arg1225Leu)
c.3656G>T (p.Arg1219Leu)
c.3641G>T (p.Arg1214Leu)
c.3626G>T (p.Arg1209Leu)
c.2204G>T (p.Arg735Leu)
c.2024G>T (p.Arg675Leu)
c.278G>T (p.Arg93Leu)
c.110G>T (p.Arg37Leu)
c.4034G>T (p.Arg1345Leu)
c.3671G>T (p.Arg1224Leu)
c.3632G>T (p.Arg1211Leu)
c.2201G>T (p.Arg734Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.72333630G>ACA3886459RIMS1c.3630G>A (p.Arg1210=)
c.4161G>A (p.Arg1387=)
c.3708G>A (p.Arg1236=)
c.1305G>A (p.Arg435=)
c.2121G>A (p.Arg707=)
c.1570+41584G>A (n.1570+41584G>A)
c.1656G>A (p.Arg552=)
n.254+41584G>A
c.2197G>A
c.1768+41584G>A (n.1768+41584G>A)
c.3510G>A (p.Arg1170=)
c.3403+41584G>A (n.3403+41584G>A)
c.3316+41584G>A (n.3316+41584G>A)
c.914G>A
c.3163+41584G>A (n.3163+41584G>A)
c.1741+41584G>A (n.1741+41584G>A)
c.2334G>A (p.Arg778=)
c.2181G>A (p.Arg727=)
c.2118G>A (p.Arg706=)
c.4107G>A (p.Arg1369=)
c.2079G>A (p.Arg693=)
c.2061G>A (p.Arg687=)
c.1998G>A (p.Arg666=)
c.1929G>A (p.Arg643=)
c.1926G>A (p.Arg642=)
c.1893G>A (p.Arg631=)
c.1810+41584G>A (n.1810+41584G>A)
c.1738+41584G>A (n.1738+41584G>A)
c.1735+41584G>A (n.1735+41584G>A)
c.1720+41584G>A (n.1720+41584G>A)
c.1582+41584G>A (n.1582+41584G>A)
c.453G>A (p.Arg151=)
c.2082G>A (p.Arg694=)
c.2178G>A (p.Arg726=)
c.2127G>A (p.Arg709=)
c.1813+41584G>A (n.1813+41584G>A)
c.2100G>A (p.Arg700=)
c.1585+41584G>A (n.1585+41584G>A)
c.2235G>A (p.Arg745=)
c.1980G>A (p.Arg660=)
c.1869G>A (p.Arg623=)
c.1672+41584G>A (n.1672+41584G>A)
c.1660+41584G>A (n.1660+41584G>A)
c.1744+41584G>A (n.1744+41584G>A)
c.1899G>A (p.Arg633=)
c.2217G>A (p.Arg739=)
c.1648+41584G>A (n.1648+41584G>A)
c.2208G>A (p.Arg736=)
c.1888+41584G>A (n.1888+41584G>A)
c.2070G>A (p.Arg690=)
c.2313G>A (p.Arg771=)
c.2064G>A (p.Arg688=)
c.1993+41584G>A (n.1993+41584G>A)
c.2052G>A (p.Arg684=)
c.1657+41584G>A (n.1657+41584G>A)
c.2049G>A (p.Arg683=)
c.1996+41584G>A (n.1996+41584G>A)
c.2022G>A (p.Arg674=)
c.1896G>A (p.Arg632=)
c.1894+41584G>A (n.1894+41584G>A)
c.2307G>A (p.Arg769=)
c.1968G>A (p.Arg656=)
c.2124G>A (p.Arg708=)
c.1669+41584G>A (n.1669+41584G>A)
c.2031G>A (p.Arg677=)
c.1588+41584G>A (n.1588+41584G>A)
c.2304G>A (p.Arg768=)
c.2130G>A (p.Arg710=)
c.1983G>A (p.Arg661=)
c.2001G>A (p.Arg667=)
c.1851G>A (p.Arg617=)
c.2166G>A (p.Arg722=)
c.1806G>A (p.Arg602=)
c.1809G>A (p.Arg603=)
c.1498+41584G>A (n.1498+41584G>A)
c.1812G>A (p.Arg604=)
c.1728G>A (p.Arg576=)
c.1653G>A (p.Arg551=)
c.1881G>A (p.Arg627=)
c.1774+41584G>A (n.1774+41584G>A)
c.1962G>A (p.Arg654=)
c.1693+41584G>A (n.1693+41584G>A)
c.1696+41584G>A (n.1696+41584G>A)
c.1854G>A (p.Arg618=)
c.3699G>A (p.Arg1233=)
c.3948G>A (p.Arg1316=)
c.3855G>A (p.Arg1285=)
c.3852G>A (p.Arg1284=)
c.3795G>A (p.Arg1265=)
c.3783G>A (p.Arg1261=)
c.3765G>A (p.Arg1255=)
c.3702G>A (p.Arg1234=)
c.3675G>A (p.Arg1225=)
c.3657G>A (p.Arg1219=)
c.3642G>A (p.Arg1214=)
c.3627G>A (p.Arg1209=)
c.2205G>A (p.Arg735=)
c.2025G>A (p.Arg675=)
c.279G>A (p.Arg93=)
c.111G>A (p.Arg37=)
c.4035G>A (p.Arg1345=)
c.3672G>A (p.Arg1224=)
c.3633G>A (p.Arg1211=)
c.2202G>A (p.Arg734=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.72333630G>CCA450885883RIMS1c.3630G>C (p.Arg1210=)
c.4161G>C (p.Arg1387=)
c.3708G>C (p.Arg1236=)
c.1305G>C (p.Arg435=)
c.2121G>C (p.Arg707=)
c.1570+41584G>C (n.1570+41584G>C)
c.1656G>C (p.Arg552=)
n.254+41584G>C
c.2197G>C
c.1768+41584G>C (n.1768+41584G>C)
c.3510G>C (p.Arg1170=)
c.3403+41584G>C (n.3403+41584G>C)
c.3316+41584G>C (n.3316+41584G>C)
c.914G>C
c.3163+41584G>C (n.3163+41584G>C)
c.1741+41584G>C (n.1741+41584G>C)
c.2334G>C (p.Arg778=)
c.2181G>C (p.Arg727=)
c.2118G>C (p.Arg706=)
c.4107G>C (p.Arg1369=)
c.2079G>C (p.Arg693=)
c.2061G>C (p.Arg687=)
c.1998G>C (p.Arg666=)
c.1929G>C (p.Arg643=)
c.1926G>C (p.Arg642=)
c.1893G>C (p.Arg631=)
c.1810+41584G>C (n.1810+41584G>C)
c.1738+41584G>C (n.1738+41584G>C)
c.1735+41584G>C (n.1735+41584G>C)
c.1720+41584G>C (n.1720+41584G>C)
c.1582+41584G>C (n.1582+41584G>C)
c.453G>C (p.Arg151=)
c.2082G>C (p.Arg694=)
c.2178G>C (p.Arg726=)
c.2127G>C (p.Arg709=)
c.1813+41584G>C (n.1813+41584G>C)
c.2100G>C (p.Arg700=)
c.1585+41584G>C (n.1585+41584G>C)
c.2235G>C (p.Arg745=)
c.1980G>C (p.Arg660=)
c.1869G>C (p.Arg623=)
c.1672+41584G>C (n.1672+41584G>C)
c.1660+41584G>C (n.1660+41584G>C)
c.1744+41584G>C (n.1744+41584G>C)
c.1899G>C (p.Arg633=)
c.2217G>C (p.Arg739=)
c.1648+41584G>C (n.1648+41584G>C)
c.2208G>C (p.Arg736=)
c.1888+41584G>C (n.1888+41584G>C)
c.2070G>C (p.Arg690=)
c.2313G>C (p.Arg771=)
c.2064G>C (p.Arg688=)
c.1993+41584G>C (n.1993+41584G>C)
c.2052G>C (p.Arg684=)
c.1657+41584G>C (n.1657+41584G>C)
c.2049G>C (p.Arg683=)
c.1996+41584G>C (n.1996+41584G>C)
c.2022G>C (p.Arg674=)
c.1896G>C (p.Arg632=)
c.1894+41584G>C (n.1894+41584G>C)
c.2307G>C (p.Arg769=)
c.1968G>C (p.Arg656=)
c.2124G>C (p.Arg708=)
c.1669+41584G>C (n.1669+41584G>C)
c.2031G>C (p.Arg677=)
c.1588+41584G>C (n.1588+41584G>C)
c.2304G>C (p.Arg768=)
c.2130G>C (p.Arg710=)
c.1983G>C (p.Arg661=)
c.2001G>C (p.Arg667=)
c.1851G>C (p.Arg617=)
c.2166G>C (p.Arg722=)
c.1806G>C (p.Arg602=)
c.1809G>C (p.Arg603=)
c.1498+41584G>C (n.1498+41584G>C)
c.1812G>C (p.Arg604=)
c.1728G>C (p.Arg576=)
c.1653G>C (p.Arg551=)
c.1881G>C (p.Arg627=)
c.1774+41584G>C (n.1774+41584G>C)
c.1962G>C (p.Arg654=)
c.1693+41584G>C (n.1693+41584G>C)
c.1696+41584G>C (n.1696+41584G>C)
c.1854G>C (p.Arg618=)
c.3699G>C (p.Arg1233=)
c.3948G>C (p.Arg1316=)
c.3855G>C (p.Arg1285=)
c.3852G>C (p.Arg1284=)
c.3795G>C (p.Arg1265=)
c.3783G>C (p.Arg1261=)
c.3765G>C (p.Arg1255=)
c.3702G>C (p.Arg1234=)
c.3675G>C (p.Arg1225=)
c.3657G>C (p.Arg1219=)
c.3642G>C (p.Arg1214=)
c.3627G>C (p.Arg1209=)
c.2205G>C (p.Arg735=)
c.2025G>C (p.Arg675=)
c.279G>C (p.Arg93=)
c.111G>C (p.Arg37=)
c.4035G>C (p.Arg1345=)
c.3672G>C (p.Arg1224=)
c.3633G>C (p.Arg1211=)
c.2202G>C (p.Arg734=)
6g.72333630G=CA1637650209RIMS1c.3630G= (p.Arg1210=)
c.4161G= (p.Arg1387=)
c.3708G= (p.Arg1236=)
c.1305G= (p.Arg435=)
c.2121G= (p.Arg707=)
c.1570+41584G= (n.1570+41584G=)
c.1656G= (p.Arg552=)
n.254+41584G=
c.2197G=
c.1768+41584G= (n.1768+41584G=)
c.3510G= (p.Arg1170=)
c.3403+41584G= (n.3403+41584G=)
c.3316+41584G= (n.3316+41584G=)
c.914G=
c.3163+41584G= (n.3163+41584G=)
c.1741+41584G= (n.1741+41584G=)
c.2334G= (p.Arg778=)
c.2181G= (p.Arg727=)
c.2118G= (p.Arg706=)
c.4107G= (p.Arg1369=)
c.2079G= (p.Arg693=)
c.2061G= (p.Arg687=)
c.1998G= (p.Arg666=)
c.1929G= (p.Arg643=)
c.1926G= (p.Arg642=)
c.1893G= (p.Arg631=)
c.1810+41584G= (n.1810+41584G=)
c.1738+41584G= (n.1738+41584G=)
c.1735+41584G= (n.1735+41584G=)
c.1720+41584G= (n.1720+41584G=)
c.1582+41584G= (n.1582+41584G=)
c.453G= (p.Arg151=)
c.2082G= (p.Arg694=)
c.2178G= (p.Arg726=)
c.2127G= (p.Arg709=)
c.1813+41584G= (n.1813+41584G=)
c.2100G= (p.Arg700=)
c.1585+41584G= (n.1585+41584G=)
c.2235G= (p.Arg745=)
c.1980G= (p.Arg660=)
c.1869G= (p.Arg623=)
c.1672+41584G= (n.1672+41584G=)
c.1660+41584G= (n.1660+41584G=)
c.1744+41584G= (n.1744+41584G=)
c.1899G= (p.Arg633=)
c.2217G= (p.Arg739=)
c.1648+41584G= (n.1648+41584G=)
c.2208G= (p.Arg736=)
c.1888+41584G= (n.1888+41584G=)
c.2070G= (p.Arg690=)
c.2313G= (p.Arg771=)
c.2064G= (p.Arg688=)
c.1993+41584G= (n.1993+41584G=)
c.2052G= (p.Arg684=)
c.1657+41584G= (n.1657+41584G=)
c.2049G= (p.Arg683=)
c.1996+41584G= (n.1996+41584G=)
c.2022G= (p.Arg674=)
c.1896G= (p.Arg632=)
c.1894+41584G= (n.1894+41584G=)
c.2307G= (p.Arg769=)
c.1968G= (p.Arg656=)
c.2124G= (p.Arg708=)
c.1669+41584G= (n.1669+41584G=)
c.2031G= (p.Arg677=)
c.1588+41584G= (n.1588+41584G=)
c.2304G= (p.Arg768=)
c.2130G= (p.Arg710=)
c.1983G= (p.Arg661=)
c.2001G= (p.Arg667=)
c.1851G= (p.Arg617=)
c.2166G= (p.Arg722=)
c.1806G= (p.Arg602=)
c.1809G= (p.Arg603=)
c.1498+41584G= (n.1498+41584G=)
c.1812G= (p.Arg604=)
c.1728G= (p.Arg576=)
c.1653G= (p.Arg551=)
c.1881G= (p.Arg627=)
c.1774+41584G= (n.1774+41584G=)
c.1962G= (p.Arg654=)
c.1693+41584G= (n.1693+41584G=)
c.1696+41584G= (n.1696+41584G=)
c.1854G= (p.Arg618=)
c.3699G= (p.Arg1233=)
c.3948G= (p.Arg1316=)
c.3855G= (p.Arg1285=)
c.3852G= (p.Arg1284=)
c.3795G= (p.Arg1265=)
c.3783G= (p.Arg1261=)
c.3765G= (p.Arg1255=)
c.3702G= (p.Arg1234=)
c.3675G= (p.Arg1225=)
c.3657G= (p.Arg1219=)
c.3642G= (p.Arg1214=)
c.3627G= (p.Arg1209=)
c.2205G= (p.Arg735=)
c.2025G= (p.Arg675=)
c.279G= (p.Arg93=)
c.111G= (p.Arg37=)
c.4035G= (p.Arg1345=)
c.3672G= (p.Arg1224=)
c.3633G= (p.Arg1211=)
c.2202G= (p.Arg734=)
6g.72333630G>TCA450885886RIMS1c.3630G>T (p.Arg1210=)
c.4161G>T (p.Arg1387=)
c.3708G>T (p.Arg1236=)
c.1305G>T (p.Arg435=)
c.2121G>T (p.Arg707=)
c.1570+41584G>T (n.1570+41584G>T)
c.1656G>T (p.Arg552=)
n.254+41584G>T
c.2197G>T
c.1768+41584G>T (n.1768+41584G>T)
c.3510G>T (p.Arg1170=)
c.3403+41584G>T (n.3403+41584G>T)
c.3316+41584G>T (n.3316+41584G>T)
c.914G>T
c.3163+41584G>T (n.3163+41584G>T)
c.1741+41584G>T (n.1741+41584G>T)
c.2334G>T (p.Arg778=)
c.2181G>T (p.Arg727=)
c.2118G>T (p.Arg706=)
c.4107G>T (p.Arg1369=)
c.2079G>T (p.Arg693=)
c.2061G>T (p.Arg687=)
c.1998G>T (p.Arg666=)
c.1929G>T (p.Arg643=)
c.1926G>T (p.Arg642=)
c.1893G>T (p.Arg631=)
c.1810+41584G>T (n.1810+41584G>T)
c.1738+41584G>T (n.1738+41584G>T)
c.1735+41584G>T (n.1735+41584G>T)
c.1720+41584G>T (n.1720+41584G>T)
c.1582+41584G>T (n.1582+41584G>T)
c.453G>T (p.Arg151=)
c.2082G>T (p.Arg694=)
c.2178G>T (p.Arg726=)
c.2127G>T (p.Arg709=)
c.1813+41584G>T (n.1813+41584G>T)
c.2100G>T (p.Arg700=)
c.1585+41584G>T (n.1585+41584G>T)
c.2235G>T (p.Arg745=)
c.1980G>T (p.Arg660=)
c.1869G>T (p.Arg623=)
c.1672+41584G>T (n.1672+41584G>T)
c.1660+41584G>T (n.1660+41584G>T)
c.1744+41584G>T (n.1744+41584G>T)
c.1899G>T (p.Arg633=)
c.2217G>T (p.Arg739=)
c.1648+41584G>T (n.1648+41584G>T)
c.2208G>T (p.Arg736=)
c.1888+41584G>T (n.1888+41584G>T)
c.2070G>T (p.Arg690=)
c.2313G>T (p.Arg771=)
c.2064G>T (p.Arg688=)
c.1993+41584G>T (n.1993+41584G>T)
c.2052G>T (p.Arg684=)
c.1657+41584G>T (n.1657+41584G>T)
c.2049G>T (p.Arg683=)
c.1996+41584G>T (n.1996+41584G>T)
c.2022G>T (p.Arg674=)
c.1896G>T (p.Arg632=)
c.1894+41584G>T (n.1894+41584G>T)
c.2307G>T (p.Arg769=)
c.1968G>T (p.Arg656=)
c.2124G>T (p.Arg708=)
c.1669+41584G>T (n.1669+41584G>T)
c.2031G>T (p.Arg677=)
c.1588+41584G>T (n.1588+41584G>T)
c.2304G>T (p.Arg768=)
c.2130G>T (p.Arg710=)
c.1983G>T (p.Arg661=)
c.2001G>T (p.Arg667=)
c.1851G>T (p.Arg617=)
c.2166G>T (p.Arg722=)
c.1806G>T (p.Arg602=)
c.1809G>T (p.Arg603=)
c.1498+41584G>T (n.1498+41584G>T)
c.1812G>T (p.Arg604=)
c.1728G>T (p.Arg576=)
c.1653G>T (p.Arg551=)
c.1881G>T (p.Arg627=)
c.1774+41584G>T (n.1774+41584G>T)
c.1962G>T (p.Arg654=)
c.1693+41584G>T (n.1693+41584G>T)
c.1696+41584G>T (n.1696+41584G>T)
c.1854G>T (p.Arg618=)
c.3699G>T (p.Arg1233=)
c.3948G>T (p.Arg1316=)
c.3855G>T (p.Arg1285=)
c.3852G>T (p.Arg1284=)
c.3795G>T (p.Arg1265=)
c.3783G>T (p.Arg1261=)
c.3765G>T (p.Arg1255=)
c.3702G>T (p.Arg1234=)
c.3675G>T (p.Arg1225=)
c.3657G>T (p.Arg1219=)
c.3642G>T (p.Arg1214=)
c.3627G>T (p.Arg1209=)
c.2205G>T (p.Arg735=)
c.2025G>T (p.Arg675=)
c.279G>T (p.Arg93=)
c.111G>T (p.Arg37=)
c.4035G>T (p.Arg1345=)
c.3672G>T (p.Arg1224=)
c.3633G>T (p.Arg1211=)
c.2202G>T (p.Arg734=)
 gnomAD v4
6g.72333631A>CCA364692699RIMS1c.3631A>C (p.Met1211Leu)
c.4162A>C (p.Met1388Leu)
c.3709A>C (p.Met1237Leu)
c.1306A>C (p.Met436Leu)
c.2122A>C (p.Met708Leu)
c.1570+41585A>C (n.1570+41585A>C)
c.1657A>C (p.Met553Leu)
n.254+41585A>C
c.2198A>C
c.1768+41585A>C (n.1768+41585A>C)
c.3511A>C (p.Met1171Leu)
c.3403+41585A>C (n.3403+41585A>C)
c.3316+41585A>C (n.3316+41585A>C)
c.915A>C
c.3163+41585A>C (n.3163+41585A>C)
c.1741+41585A>C (n.1741+41585A>C)
c.2335A>C (p.Met779Leu)
c.2182A>C (p.Met728Leu)
c.2119A>C (p.Met707Leu)
c.4108A>C (p.Met1370Leu)
c.2080A>C (p.Met694Leu)
c.2062A>C (p.Met688Leu)
c.1999A>C (p.Met667Leu)
c.1930A>C (p.Met644Leu)
c.1927A>C (p.Met643Leu)
c.1894A>C (p.Met632Leu)
c.1810+41585A>C (n.1810+41585A>C)
c.1738+41585A>C (n.1738+41585A>C)
c.1735+41585A>C (n.1735+41585A>C)
c.1720+41585A>C (n.1720+41585A>C)
c.1582+41585A>C (n.1582+41585A>C)
c.454A>C (p.Met152Leu)
c.2083A>C (p.Met695Leu)
c.2179A>C (p.Met727Leu)
c.2128A>C (p.Met710Leu)
c.1813+41585A>C (n.1813+41585A>C)
c.2101A>C (p.Met701Leu)
c.1585+41585A>C (n.1585+41585A>C)
c.2236A>C (p.Met746Leu)
c.1981A>C (p.Met661Leu)
c.1870A>C (p.Met624Leu)
c.1672+41585A>C (n.1672+41585A>C)
c.1660+41585A>C (n.1660+41585A>C)
c.1744+41585A>C (n.1744+41585A>C)
c.1900A>C (p.Met634Leu)
c.2218A>C (p.Met740Leu)
c.1648+41585A>C (n.1648+41585A>C)
c.2209A>C (p.Met737Leu)
c.1888+41585A>C (n.1888+41585A>C)
c.2071A>C (p.Met691Leu)
c.2314A>C (p.Met772Leu)
c.2065A>C (p.Met689Leu)
c.1993+41585A>C (n.1993+41585A>C)
c.2053A>C (p.Met685Leu)
c.1657+41585A>C (n.1657+41585A>C)
c.2050A>C (p.Met684Leu)
c.1996+41585A>C (n.1996+41585A>C)
c.2023A>C (p.Met675Leu)
c.1897A>C (p.Met633Leu)
c.1894+41585A>C (n.1894+41585A>C)
c.2308A>C (p.Met770Leu)
c.1969A>C (p.Met657Leu)
c.2125A>C (p.Met709Leu)
c.1669+41585A>C (n.1669+41585A>C)
c.2032A>C (p.Met678Leu)
c.1588+41585A>C (n.1588+41585A>C)
c.2305A>C (p.Met769Leu)
c.2131A>C (p.Met711Leu)
c.1984A>C (p.Met662Leu)
c.2002A>C (p.Met668Leu)
c.1852A>C (p.Met618Leu)
c.2167A>C (p.Met723Leu)
c.1807A>C (p.Met603Leu)
c.1810A>C (p.Met604Leu)
c.1498+41585A>C (n.1498+41585A>C)
c.1813A>C (p.Met605Leu)
c.1729A>C (p.Met577Leu)
c.1654A>C (p.Met552Leu)
c.1882A>C (p.Met628Leu)
c.1774+41585A>C (n.1774+41585A>C)
c.1963A>C (p.Met655Leu)
c.1693+41585A>C (n.1693+41585A>C)
c.1696+41585A>C (n.1696+41585A>C)
c.1855A>C (p.Met619Leu)
c.3700A>C (p.Met1234Leu)
c.3949A>C (p.Met1317Leu)
c.3856A>C (p.Met1286Leu)
c.3853A>C (p.Met1285Leu)
c.3796A>C (p.Met1266Leu)
c.3784A>C (p.Met1262Leu)
c.3766A>C (p.Met1256Leu)
c.3703A>C (p.Met1235Leu)
c.3676A>C (p.Met1226Leu)
c.3658A>C (p.Met1220Leu)
c.3643A>C (p.Met1215Leu)
c.3628A>C (p.Met1210Leu)
c.2206A>C (p.Met736Leu)
c.2026A>C (p.Met676Leu)
c.280A>C (p.Met94Leu)
c.112A>C (p.Met38Leu)
c.4036A>C (p.Met1346Leu)
c.3673A>C (p.Met1225Leu)
c.3634A>C (p.Met1212Leu)
c.2203A>C (p.Met735Leu)
6g.72333631A>GCA364692700RIMS1c.3631A>G (p.Met1211Val)
c.4162A>G (p.Met1388Val)
c.3709A>G (p.Met1237Val)
c.1306A>G (p.Met436Val)
c.2122A>G (p.Met708Val)
c.1570+41585A>G (n.1570+41585A>G)
c.1657A>G (p.Met553Val)
n.254+41585A>G
c.2198A>G
c.1768+41585A>G (n.1768+41585A>G)
c.3511A>G (p.Met1171Val)
c.3403+41585A>G (n.3403+41585A>G)
c.3316+41585A>G (n.3316+41585A>G)
c.915A>G
c.3163+41585A>G (n.3163+41585A>G)
c.1741+41585A>G (n.1741+41585A>G)
c.2335A>G (p.Met779Val)
c.2182A>G (p.Met728Val)
c.2119A>G (p.Met707Val)
c.4108A>G (p.Met1370Val)
c.2080A>G (p.Met694Val)
c.2062A>G (p.Met688Val)
c.1999A>G (p.Met667Val)
c.1930A>G (p.Met644Val)
c.1927A>G (p.Met643Val)
c.1894A>G (p.Met632Val)
c.1810+41585A>G (n.1810+41585A>G)
c.1738+41585A>G (n.1738+41585A>G)
c.1735+41585A>G (n.1735+41585A>G)
c.1720+41585A>G (n.1720+41585A>G)
c.1582+41585A>G (n.1582+41585A>G)
c.454A>G (p.Met152Val)
c.2083A>G (p.Met695Val)
c.2179A>G (p.Met727Val)
c.2128A>G (p.Met710Val)
c.1813+41585A>G (n.1813+41585A>G)
c.2101A>G (p.Met701Val)
c.1585+41585A>G (n.1585+41585A>G)
c.2236A>G (p.Met746Val)
c.1981A>G (p.Met661Val)
c.1870A>G (p.Met624Val)
c.1672+41585A>G (n.1672+41585A>G)
c.1660+41585A>G (n.1660+41585A>G)
c.1744+41585A>G (n.1744+41585A>G)
c.1900A>G (p.Met634Val)
c.2218A>G (p.Met740Val)
c.1648+41585A>G (n.1648+41585A>G)
c.2209A>G (p.Met737Val)
c.1888+41585A>G (n.1888+41585A>G)
c.2071A>G (p.Met691Val)
c.2314A>G (p.Met772Val)
c.2065A>G (p.Met689Val)
c.1993+41585A>G (n.1993+41585A>G)
c.2053A>G (p.Met685Val)
c.1657+41585A>G (n.1657+41585A>G)
c.2050A>G (p.Met684Val)
c.1996+41585A>G (n.1996+41585A>G)
c.2023A>G (p.Met675Val)
c.1897A>G (p.Met633Val)
c.1894+41585A>G (n.1894+41585A>G)
c.2308A>G (p.Met770Val)
c.1969A>G (p.Met657Val)
c.2125A>G (p.Met709Val)
c.1669+41585A>G (n.1669+41585A>G)
c.2032A>G (p.Met678Val)
c.1588+41585A>G (n.1588+41585A>G)
c.2305A>G (p.Met769Val)
c.2131A>G (p.Met711Val)
c.1984A>G (p.Met662Val)
c.2002A>G (p.Met668Val)
c.1852A>G (p.Met618Val)
c.2167A>G (p.Met723Val)
c.1807A>G (p.Met603Val)
c.1810A>G (p.Met604Val)
c.1498+41585A>G (n.1498+41585A>G)
c.1813A>G (p.Met605Val)
c.1729A>G (p.Met577Val)
c.1654A>G (p.Met552Val)
c.1882A>G (p.Met628Val)
c.1774+41585A>G (n.1774+41585A>G)
c.1963A>G (p.Met655Val)
c.1693+41585A>G (n.1693+41585A>G)
c.1696+41585A>G (n.1696+41585A>G)
c.1855A>G (p.Met619Val)
c.3700A>G (p.Met1234Val)
c.3949A>G (p.Met1317Val)
c.3856A>G (p.Met1286Val)
c.3853A>G (p.Met1285Val)
c.3796A>G (p.Met1266Val)
c.3784A>G (p.Met1262Val)
c.3766A>G (p.Met1256Val)
c.3703A>G (p.Met1235Val)
c.3676A>G (p.Met1226Val)
c.3658A>G (p.Met1220Val)
c.3643A>G (p.Met1215Val)
c.3628A>G (p.Met1210Val)
c.2206A>G (p.Met736Val)
c.2026A>G (p.Met676Val)
c.280A>G (p.Met94Val)
c.112A>G (p.Met38Val)
c.4036A>G (p.Met1346Val)
c.3673A>G (p.Met1225Val)
c.3634A>G (p.Met1212Val)
c.2203A>G (p.Met735Val)
6g.72333631A>TCA364692701RIMS1c.3631A>T (p.Met1211Leu)
c.4162A>T (p.Met1388Leu)
c.3709A>T (p.Met1237Leu)
c.1306A>T (p.Met436Leu)
c.2122A>T (p.Met708Leu)
c.1570+41585A>T (n.1570+41585A>T)
c.1657A>T (p.Met553Leu)
n.254+41585A>T
c.2198A>T
c.1768+41585A>T (n.1768+41585A>T)
c.3511A>T (p.Met1171Leu)
c.3403+41585A>T (n.3403+41585A>T)
c.3316+41585A>T (n.3316+41585A>T)
c.915A>T
c.3163+41585A>T (n.3163+41585A>T)
c.1741+41585A>T (n.1741+41585A>T)
c.2335A>T (p.Met779Leu)
c.2182A>T (p.Met728Leu)
c.2119A>T (p.Met707Leu)
c.4108A>T (p.Met1370Leu)
c.2080A>T (p.Met694Leu)
c.2062A>T (p.Met688Leu)
c.1999A>T (p.Met667Leu)
c.1930A>T (p.Met644Leu)
c.1927A>T (p.Met643Leu)
c.1894A>T (p.Met632Leu)
c.1810+41585A>T (n.1810+41585A>T)
c.1738+41585A>T (n.1738+41585A>T)
c.1735+41585A>T (n.1735+41585A>T)
c.1720+41585A>T (n.1720+41585A>T)
c.1582+41585A>T (n.1582+41585A>T)
c.454A>T (p.Met152Leu)
c.2083A>T (p.Met695Leu)
c.2179A>T (p.Met727Leu)
c.2128A>T (p.Met710Leu)
c.1813+41585A>T (n.1813+41585A>T)
c.2101A>T (p.Met701Leu)
c.1585+41585A>T (n.1585+41585A>T)
c.2236A>T (p.Met746Leu)
c.1981A>T (p.Met661Leu)
c.1870A>T (p.Met624Leu)
c.1672+41585A>T (n.1672+41585A>T)
c.1660+41585A>T (n.1660+41585A>T)
c.1744+41585A>T (n.1744+41585A>T)
c.1900A>T (p.Met634Leu)
c.2218A>T (p.Met740Leu)
c.1648+41585A>T (n.1648+41585A>T)
c.2209A>T (p.Met737Leu)
c.1888+41585A>T (n.1888+41585A>T)
c.2071A>T (p.Met691Leu)
c.2314A>T (p.Met772Leu)
c.2065A>T (p.Met689Leu)
c.1993+41585A>T (n.1993+41585A>T)
c.2053A>T (p.Met685Leu)
c.1657+41585A>T (n.1657+41585A>T)
c.2050A>T (p.Met684Leu)
c.1996+41585A>T (n.1996+41585A>T)
c.2023A>T (p.Met675Leu)
c.1897A>T (p.Met633Leu)
c.1894+41585A>T (n.1894+41585A>T)
c.2308A>T (p.Met770Leu)
c.1969A>T (p.Met657Leu)
c.2125A>T (p.Met709Leu)
c.1669+41585A>T (n.1669+41585A>T)
c.2032A>T (p.Met678Leu)
c.1588+41585A>T (n.1588+41585A>T)
c.2305A>T (p.Met769Leu)
c.2131A>T (p.Met711Leu)
c.1984A>T (p.Met662Leu)
c.2002A>T (p.Met668Leu)
c.1852A>T (p.Met618Leu)
c.2167A>T (p.Met723Leu)
c.1807A>T (p.Met603Leu)
c.1810A>T (p.Met604Leu)
c.1498+41585A>T (n.1498+41585A>T)
c.1813A>T (p.Met605Leu)
c.1729A>T (p.Met577Leu)
c.1654A>T (p.Met552Leu)
c.1882A>T (p.Met628Leu)
c.1774+41585A>T (n.1774+41585A>T)
c.1963A>T (p.Met655Leu)
c.1693+41585A>T (n.1693+41585A>T)
c.1696+41585A>T (n.1696+41585A>T)
c.1855A>T (p.Met619Leu)
c.3700A>T (p.Met1234Leu)
c.3949A>T (p.Met1317Leu)
c.3856A>T (p.Met1286Leu)
c.3853A>T (p.Met1285Leu)
c.3796A>T (p.Met1266Leu)
c.3784A>T (p.Met1262Leu)
c.3766A>T (p.Met1256Leu)
c.3703A>T (p.Met1235Leu)
c.3676A>T (p.Met1226Leu)
c.3658A>T (p.Met1220Leu)
c.3643A>T (p.Met1215Leu)
c.3628A>T (p.Met1210Leu)
c.2206A>T (p.Met736Leu)
c.2026A>T (p.Met676Leu)
c.280A>T (p.Met94Leu)
c.112A>T (p.Met38Leu)
c.4036A>T (p.Met1346Leu)
c.3673A>T (p.Met1225Leu)
c.3634A>T (p.Met1212Leu)
c.2203A>T (p.Met735Leu)
6g.72333632T>ACA364692702RIMS1c.3632T>A (p.Met1211Lys)
c.4163T>A (p.Met1388Lys)
c.3710T>A (p.Met1237Lys)
c.1307T>A (p.Met436Lys)
c.2123T>A (p.Met708Lys)
c.1570+41586T>A (n.1570+41586T>A)
c.1658T>A (p.Met553Lys)
n.254+41586T>A
c.2199T>A
c.1768+41586T>A (n.1768+41586T>A)
c.3512T>A (p.Met1171Lys)
c.3403+41586T>A (n.3403+41586T>A)
c.3316+41586T>A (n.3316+41586T>A)
c.916T>A
c.3163+41586T>A (n.3163+41586T>A)
c.1741+41586T>A (n.1741+41586T>A)
c.2336T>A (p.Met779Lys)
c.2183T>A (p.Met728Lys)
c.2120T>A (p.Met707Lys)
c.4109T>A (p.Met1370Lys)
c.2081T>A (p.Met694Lys)
c.2063T>A (p.Met688Lys)
c.2000T>A (p.Met667Lys)
c.1931T>A (p.Met644Lys)
c.1928T>A (p.Met643Lys)
c.1895T>A (p.Met632Lys)
c.1810+41586T>A (n.1810+41586T>A)
c.1738+41586T>A (n.1738+41586T>A)
c.1735+41586T>A (n.1735+41586T>A)
c.1720+41586T>A (n.1720+41586T>A)
c.1582+41586T>A (n.1582+41586T>A)
c.455T>A (p.Met152Lys)
c.2084T>A (p.Met695Lys)
c.2180T>A (p.Met727Lys)
c.2129T>A (p.Met710Lys)
c.1813+41586T>A (n.1813+41586T>A)
c.2102T>A (p.Met701Lys)
c.1585+41586T>A (n.1585+41586T>A)
c.2237T>A (p.Met746Lys)
c.1982T>A (p.Met661Lys)
c.1871T>A (p.Met624Lys)
c.1672+41586T>A (n.1672+41586T>A)
c.1660+41586T>A (n.1660+41586T>A)
c.1744+41586T>A (n.1744+41586T>A)
c.1901T>A (p.Met634Lys)
c.2219T>A (p.Met740Lys)
c.1648+41586T>A (n.1648+41586T>A)
c.2210T>A (p.Met737Lys)
c.1888+41586T>A (n.1888+41586T>A)
c.2072T>A (p.Met691Lys)
c.2315T>A (p.Met772Lys)
c.2066T>A (p.Met689Lys)
c.1993+41586T>A (n.1993+41586T>A)
c.2054T>A (p.Met685Lys)
c.1657+41586T>A (n.1657+41586T>A)
c.2051T>A (p.Met684Lys)
c.1996+41586T>A (n.1996+41586T>A)
c.2024T>A (p.Met675Lys)
c.1898T>A (p.Met633Lys)
c.1894+41586T>A (n.1894+41586T>A)
c.2309T>A (p.Met770Lys)
c.1970T>A (p.Met657Lys)
c.2126T>A (p.Met709Lys)
c.1669+41586T>A (n.1669+41586T>A)
c.2033T>A (p.Met678Lys)
c.1588+41586T>A (n.1588+41586T>A)
c.2306T>A (p.Met769Lys)
c.2132T>A (p.Met711Lys)
c.1985T>A (p.Met662Lys)
c.2003T>A (p.Met668Lys)
c.1853T>A (p.Met618Lys)
c.2168T>A (p.Met723Lys)
c.1808T>A (p.Met603Lys)
c.1811T>A (p.Met604Lys)
c.1498+41586T>A (n.1498+41586T>A)
c.1814T>A (p.Met605Lys)
c.1730T>A (p.Met577Lys)
c.1655T>A (p.Met552Lys)
c.1883T>A (p.Met628Lys)
c.1774+41586T>A (n.1774+41586T>A)
c.1964T>A (p.Met655Lys)
c.1693+41586T>A (n.1693+41586T>A)
c.1696+41586T>A (n.1696+41586T>A)
c.1856T>A (p.Met619Lys)
c.3701T>A (p.Met1234Lys)
c.3950T>A (p.Met1317Lys)
c.3857T>A (p.Met1286Lys)
c.3854T>A (p.Met1285Lys)
c.3797T>A (p.Met1266Lys)
c.3785T>A (p.Met1262Lys)
c.3767T>A (p.Met1256Lys)
c.3704T>A (p.Met1235Lys)
c.3677T>A (p.Met1226Lys)
c.3659T>A (p.Met1220Lys)
c.3644T>A (p.Met1215Lys)
c.3629T>A (p.Met1210Lys)
c.2207T>A (p.Met736Lys)
c.2027T>A (p.Met676Lys)
c.281T>A (p.Met94Lys)
c.113T>A (p.Met38Lys)
c.4037T>A (p.Met1346Lys)
c.3674T>A (p.Met1225Lys)
c.3635T>A (p.Met1212Lys)
c.2204T>A (p.Met735Lys)
6g.72333632T>CCA364692703RIMS1c.3632T>C (p.Met1211Thr)
c.4163T>C (p.Met1388Thr)
c.3710T>C (p.Met1237Thr)
c.1307T>C (p.Met436Thr)
c.2123T>C (p.Met708Thr)
c.1570+41586T>C (n.1570+41586T>C)
c.1658T>C (p.Met553Thr)
n.254+41586T>C
c.2199T>C
c.1768+41586T>C (n.1768+41586T>C)
c.3512T>C (p.Met1171Thr)
c.3403+41586T>C (n.3403+41586T>C)
c.3316+41586T>C (n.3316+41586T>C)
c.916T>C
c.3163+41586T>C (n.3163+41586T>C)
c.1741+41586T>C (n.1741+41586T>C)
c.2336T>C (p.Met779Thr)
c.2183T>C (p.Met728Thr)
c.2120T>C (p.Met707Thr)
c.4109T>C (p.Met1370Thr)
c.2081T>C (p.Met694Thr)
c.2063T>C (p.Met688Thr)
c.2000T>C (p.Met667Thr)
c.1931T>C (p.Met644Thr)
c.1928T>C (p.Met643Thr)
c.1895T>C (p.Met632Thr)
c.1810+41586T>C (n.1810+41586T>C)
c.1738+41586T>C (n.1738+41586T>C)
c.1735+41586T>C (n.1735+41586T>C)
c.1720+41586T>C (n.1720+41586T>C)
c.1582+41586T>C (n.1582+41586T>C)
c.455T>C (p.Met152Thr)
c.2084T>C (p.Met695Thr)
c.2180T>C (p.Met727Thr)
c.2129T>C (p.Met710Thr)
c.1813+41586T>C (n.1813+41586T>C)
c.2102T>C (p.Met701Thr)
c.1585+41586T>C (n.1585+41586T>C)
c.2237T>C (p.Met746Thr)
c.1982T>C (p.Met661Thr)
c.1871T>C (p.Met624Thr)
c.1672+41586T>C (n.1672+41586T>C)
c.1660+41586T>C (n.1660+41586T>C)
c.1744+41586T>C (n.1744+41586T>C)
c.1901T>C (p.Met634Thr)
c.2219T>C (p.Met740Thr)
c.1648+41586T>C (n.1648+41586T>C)
c.2210T>C (p.Met737Thr)
c.1888+41586T>C (n.1888+41586T>C)
c.2072T>C (p.Met691Thr)
c.2315T>C (p.Met772Thr)
c.2066T>C (p.Met689Thr)
c.1993+41586T>C (n.1993+41586T>C)
c.2054T>C (p.Met685Thr)
c.1657+41586T>C (n.1657+41586T>C)
c.2051T>C (p.Met684Thr)
c.1996+41586T>C (n.1996+41586T>C)
c.2024T>C (p.Met675Thr)
c.1898T>C (p.Met633Thr)
c.1894+41586T>C (n.1894+41586T>C)
c.2309T>C (p.Met770Thr)
c.1970T>C (p.Met657Thr)
c.2126T>C (p.Met709Thr)
c.1669+41586T>C (n.1669+41586T>C)
c.2033T>C (p.Met678Thr)
c.1588+41586T>C (n.1588+41586T>C)
c.2306T>C (p.Met769Thr)
c.2132T>C (p.Met711Thr)
c.1985T>C (p.Met662Thr)
c.2003T>C (p.Met668Thr)
c.1853T>C (p.Met618Thr)
c.2168T>C (p.Met723Thr)
c.1808T>C (p.Met603Thr)
c.1811T>C (p.Met604Thr)
c.1498+41586T>C (n.1498+41586T>C)
c.1814T>C (p.Met605Thr)
c.1730T>C (p.Met577Thr)
c.1655T>C (p.Met552Thr)
c.1883T>C (p.Met628Thr)
c.1774+41586T>C (n.1774+41586T>C)
c.1964T>C (p.Met655Thr)
c.1693+41586T>C (n.1693+41586T>C)
c.1696+41586T>C (n.1696+41586T>C)
c.1856T>C (p.Met619Thr)
c.3701T>C (p.Met1234Thr)
c.3950T>C (p.Met1317Thr)
c.3857T>C (p.Met1286Thr)
c.3854T>C (p.Met1285Thr)
c.3797T>C (p.Met1266Thr)
c.3785T>C (p.Met1262Thr)
c.3767T>C (p.Met1256Thr)
c.3704T>C (p.Met1235Thr)
c.3677T>C (p.Met1226Thr)
c.3659T>C (p.Met1220Thr)
c.3644T>C (p.Met1215Thr)
c.3629T>C (p.Met1210Thr)
c.2207T>C (p.Met736Thr)
c.2027T>C (p.Met676Thr)
c.281T>C (p.Met94Thr)
c.113T>C (p.Met38Thr)
c.4037T>C (p.Met1346Thr)
c.3674T>C (p.Met1225Thr)
c.3635T>C (p.Met1212Thr)
c.2204T>C (p.Met735Thr)
 gnomAD v4
6g.72333632T>GCA364692704RIMS1c.3632T>G (p.Met1211Arg)
c.4163T>G (p.Met1388Arg)
c.3710T>G (p.Met1237Arg)
c.1307T>G (p.Met436Arg)
c.2123T>G (p.Met708Arg)
c.1570+41586T>G (n.1570+41586T>G)
c.1658T>G (p.Met553Arg)
n.254+41586T>G
c.2199T>G
c.1768+41586T>G (n.1768+41586T>G)
c.3512T>G (p.Met1171Arg)
c.3403+41586T>G (n.3403+41586T>G)
c.3316+41586T>G (n.3316+41586T>G)
c.916T>G
c.3163+41586T>G (n.3163+41586T>G)
c.1741+41586T>G (n.1741+41586T>G)
c.2336T>G (p.Met779Arg)
c.2183T>G (p.Met728Arg)
c.2120T>G (p.Met707Arg)
c.4109T>G (p.Met1370Arg)
c.2081T>G (p.Met694Arg)
c.2063T>G (p.Met688Arg)
c.2000T>G (p.Met667Arg)
c.1931T>G (p.Met644Arg)
c.1928T>G (p.Met643Arg)
c.1895T>G (p.Met632Arg)
c.1810+41586T>G (n.1810+41586T>G)
c.1738+41586T>G (n.1738+41586T>G)
c.1735+41586T>G (n.1735+41586T>G)
c.1720+41586T>G (n.1720+41586T>G)
c.1582+41586T>G (n.1582+41586T>G)
c.455T>G (p.Met152Arg)
c.2084T>G (p.Met695Arg)
c.2180T>G (p.Met727Arg)
c.2129T>G (p.Met710Arg)
c.1813+41586T>G (n.1813+41586T>G)
c.2102T>G (p.Met701Arg)
c.1585+41586T>G (n.1585+41586T>G)
c.2237T>G (p.Met746Arg)
c.1982T>G (p.Met661Arg)
c.1871T>G (p.Met624Arg)
c.1672+41586T>G (n.1672+41586T>G)
c.1660+41586T>G (n.1660+41586T>G)
c.1744+41586T>G (n.1744+41586T>G)
c.1901T>G (p.Met634Arg)
c.2219T>G (p.Met740Arg)
c.1648+41586T>G (n.1648+41586T>G)
c.2210T>G (p.Met737Arg)
c.1888+41586T>G (n.1888+41586T>G)
c.2072T>G (p.Met691Arg)
c.2315T>G (p.Met772Arg)
c.2066T>G (p.Met689Arg)
c.1993+41586T>G (n.1993+41586T>G)
c.2054T>G (p.Met685Arg)
c.1657+41586T>G (n.1657+41586T>G)
c.2051T>G (p.Met684Arg)
c.1996+41586T>G (n.1996+41586T>G)
c.2024T>G (p.Met675Arg)
c.1898T>G (p.Met633Arg)
c.1894+41586T>G (n.1894+41586T>G)
c.2309T>G (p.Met770Arg)
c.1970T>G (p.Met657Arg)
c.2126T>G (p.Met709Arg)
c.1669+41586T>G (n.1669+41586T>G)
c.2033T>G (p.Met678Arg)
c.1588+41586T>G (n.1588+41586T>G)
c.2306T>G (p.Met769Arg)
c.2132T>G (p.Met711Arg)
c.1985T>G (p.Met662Arg)
c.2003T>G (p.Met668Arg)
c.1853T>G (p.Met618Arg)
c.2168T>G (p.Met723Arg)
c.1808T>G (p.Met603Arg)
c.1811T>G (p.Met604Arg)
c.1498+41586T>G (n.1498+41586T>G)
c.1814T>G (p.Met605Arg)
c.1730T>G (p.Met577Arg)
c.1655T>G (p.Met552Arg)
c.1883T>G (p.Met628Arg)
c.1774+41586T>G (n.1774+41586T>G)
c.1964T>G (p.Met655Arg)
c.1693+41586T>G (n.1693+41586T>G)
c.1696+41586T>G (n.1696+41586T>G)
c.1856T>G (p.Met619Arg)
c.3701T>G (p.Met1234Arg)
c.3950T>G (p.Met1317Arg)
c.3857T>G (p.Met1286Arg)
c.3854T>G (p.Met1285Arg)
c.3797T>G (p.Met1266Arg)
c.3785T>G (p.Met1262Arg)
c.3767T>G (p.Met1256Arg)
c.3704T>G (p.Met1235Arg)
c.3677T>G (p.Met1226Arg)
c.3659T>G (p.Met1220Arg)
c.3644T>G (p.Met1215Arg)
c.3629T>G (p.Met1210Arg)
c.2207T>G (p.Met736Arg)
c.2027T>G (p.Met676Arg)
c.281T>G (p.Met94Arg)
c.113T>G (p.Met38Arg)
c.4037T>G (p.Met1346Arg)
c.3674T>G (p.Met1225Arg)
c.3635T>G (p.Met1212Arg)
c.2204T>G (p.Met735Arg)
6g.72333633G>ACA140893812RIMS1c.3633G>A (p.Met1211Ile)
c.4164G>A (p.Met1388Ile)
c.3711G>A (p.Met1237Ile)
c.1308G>A (p.Met436Ile)
c.2124G>A (p.Met708Ile)
c.1570+41587G>A (n.1570+41587G>A)
c.1659G>A (p.Met553Ile)
n.254+41587G>A
c.2200G>A
c.1768+41587G>A (n.1768+41587G>A)
c.3513G>A (p.Met1171Ile)
c.3403+41587G>A (n.3403+41587G>A)
c.3316+41587G>A (n.3316+41587G>A)
c.917G>A
c.3163+41587G>A (n.3163+41587G>A)
c.1741+41587G>A (n.1741+41587G>A)
c.2337G>A (p.Met779Ile)
c.2184G>A (p.Met728Ile)
c.2121G>A (p.Met707Ile)
c.4110G>A (p.Met1370Ile)
c.2082G>A (p.Met694Ile)
c.2064G>A (p.Met688Ile)
c.2001G>A (p.Met667Ile)
c.1932G>A (p.Met644Ile)
c.1929G>A (p.Met643Ile)
c.1896G>A (p.Met632Ile)
c.1810+41587G>A (n.1810+41587G>A)
c.1738+41587G>A (n.1738+41587G>A)
c.1735+41587G>A (n.1735+41587G>A)
c.1720+41587G>A (n.1720+41587G>A)
c.1582+41587G>A (n.1582+41587G>A)
c.456G>A (p.Met152Ile)
c.2085G>A (p.Met695Ile)
c.2181G>A (p.Met727Ile)
c.2130G>A (p.Met710Ile)
c.1813+41587G>A (n.1813+41587G>A)
c.2103G>A (p.Met701Ile)
c.1585+41587G>A (n.1585+41587G>A)
c.2238G>A (p.Met746Ile)
c.1983G>A (p.Met661Ile)
c.1872G>A (p.Met624Ile)
c.1672+41587G>A (n.1672+41587G>A)
c.1660+41587G>A (n.1660+41587G>A)
c.1744+41587G>A (n.1744+41587G>A)
c.1902G>A (p.Met634Ile)
c.2220G>A (p.Met740Ile)
c.1648+41587G>A (n.1648+41587G>A)
c.2211G>A (p.Met737Ile)
c.1888+41587G>A (n.1888+41587G>A)
c.2073G>A (p.Met691Ile)
c.2316G>A (p.Met772Ile)
c.2067G>A (p.Met689Ile)
c.1993+41587G>A (n.1993+41587G>A)
c.2055G>A (p.Met685Ile)
c.1657+41587G>A (n.1657+41587G>A)
c.2052G>A (p.Met684Ile)
c.1996+41587G>A (n.1996+41587G>A)
c.2025G>A (p.Met675Ile)
c.1899G>A (p.Met633Ile)
c.1894+41587G>A (n.1894+41587G>A)
c.2310G>A (p.Met770Ile)
c.1971G>A (p.Met657Ile)
c.2127G>A (p.Met709Ile)
c.1669+41587G>A (n.1669+41587G>A)
c.2034G>A (p.Met678Ile)
c.1588+41587G>A (n.1588+41587G>A)
c.2307G>A (p.Met769Ile)
c.2133G>A (p.Met711Ile)
c.1986G>A (p.Met662Ile)
c.2004G>A (p.Met668Ile)
c.1854G>A (p.Met618Ile)
c.2169G>A (p.Met723Ile)
c.1809G>A (p.Met603Ile)
c.1812G>A (p.Met604Ile)
c.1498+41587G>A (n.1498+41587G>A)
c.1815G>A (p.Met605Ile)
c.1731G>A (p.Met577Ile)
c.1656G>A (p.Met552Ile)
c.1884G>A (p.Met628Ile)
c.1774+41587G>A (n.1774+41587G>A)
c.1965G>A (p.Met655Ile)
c.1693+41587G>A (n.1693+41587G>A)
c.1696+41587G>A (n.1696+41587G>A)
c.1857G>A (p.Met619Ile)
c.3702G>A (p.Met1234Ile)
c.3951G>A (p.Met1317Ile)
c.3858G>A (p.Met1286Ile)
c.3855G>A (p.Met1285Ile)
c.3798G>A (p.Met1266Ile)
c.3786G>A (p.Met1262Ile)
c.3768G>A (p.Met1256Ile)
c.3705G>A (p.Met1235Ile)
c.3678G>A (p.Met1226Ile)
c.3660G>A (p.Met1220Ile)
c.3645G>A (p.Met1215Ile)
c.3630G>A (p.Met1210Ile)
c.2208G>A (p.Met736Ile)
c.2028G>A (p.Met676Ile)
c.282G>A (p.Met94Ile)
c.114G>A (p.Met38Ile)
c.4038G>A (p.Met1346Ile)
c.3675G>A (p.Met1225Ile)
c.3636G>A (p.Met1212Ile)
c.2205G>A (p.Met735Ile)
 dbSNP gnomAD v4
6g.72333633G>CCA364692705RIMS1c.3633G>C (p.Met1211Ile)
c.4164G>C (p.Met1388Ile)
c.3711G>C (p.Met1237Ile)
c.1308G>C (p.Met436Ile)
c.2124G>C (p.Met708Ile)
c.1570+41587G>C (n.1570+41587G>C)
c.1659G>C (p.Met553Ile)
n.254+41587G>C
c.2200G>C
c.1768+41587G>C (n.1768+41587G>C)
c.3513G>C (p.Met1171Ile)
c.3403+41587G>C (n.3403+41587G>C)
c.3316+41587G>C (n.3316+41587G>C)
c.917G>C
c.3163+41587G>C (n.3163+41587G>C)
c.1741+41587G>C (n.1741+41587G>C)
c.2337G>C (p.Met779Ile)
c.2184G>C (p.Met728Ile)
c.2121G>C (p.Met707Ile)
c.4110G>C (p.Met1370Ile)
c.2082G>C (p.Met694Ile)
c.2064G>C (p.Met688Ile)
c.2001G>C (p.Met667Ile)
c.1932G>C (p.Met644Ile)
c.1929G>C (p.Met643Ile)
c.1896G>C (p.Met632Ile)
c.1810+41587G>C (n.1810+41587G>C)
c.1738+41587G>C (n.1738+41587G>C)
c.1735+41587G>C (n.1735+41587G>C)
c.1720+41587G>C (n.1720+41587G>C)
c.1582+41587G>C (n.1582+41587G>C)
c.456G>C (p.Met152Ile)
c.2085G>C (p.Met695Ile)
c.2181G>C (p.Met727Ile)
c.2130G>C (p.Met710Ile)
c.1813+41587G>C (n.1813+41587G>C)
c.2103G>C (p.Met701Ile)
c.1585+41587G>C (n.1585+41587G>C)
c.2238G>C (p.Met746Ile)
c.1983G>C (p.Met661Ile)
c.1872G>C (p.Met624Ile)
c.1672+41587G>C (n.1672+41587G>C)
c.1660+41587G>C (n.1660+41587G>C)
c.1744+41587G>C (n.1744+41587G>C)
c.1902G>C (p.Met634Ile)
c.2220G>C (p.Met740Ile)
c.1648+41587G>C (n.1648+41587G>C)
c.2211G>C (p.Met737Ile)
c.1888+41587G>C (n.1888+41587G>C)
c.2073G>C (p.Met691Ile)
c.2316G>C (p.Met772Ile)
c.2067G>C (p.Met689Ile)
c.1993+41587G>C (n.1993+41587G>C)
c.2055G>C (p.Met685Ile)
c.1657+41587G>C (n.1657+41587G>C)
c.2052G>C (p.Met684Ile)
c.1996+41587G>C (n.1996+41587G>C)
c.2025G>C (p.Met675Ile)
c.1899G>C (p.Met633Ile)
c.1894+41587G>C (n.1894+41587G>C)
c.2310G>C (p.Met770Ile)
c.1971G>C (p.Met657Ile)
c.2127G>C (p.Met709Ile)
c.1669+41587G>C (n.1669+41587G>C)
c.2034G>C (p.Met678Ile)
c.1588+41587G>C (n.1588+41587G>C)
c.2307G>C (p.Met769Ile)
c.2133G>C (p.Met711Ile)
c.1986G>C (p.Met662Ile)
c.2004G>C (p.Met668Ile)
c.1854G>C (p.Met618Ile)
c.2169G>C (p.Met723Ile)
c.1809G>C (p.Met603Ile)
c.1812G>C (p.Met604Ile)
c.1498+41587G>C (n.1498+41587G>C)
c.1815G>C (p.Met605Ile)
c.1731G>C (p.Met577Ile)
c.1656G>C (p.Met552Ile)
c.1884G>C (p.Met628Ile)
c.1774+41587G>C (n.1774+41587G>C)
c.1965G>C (p.Met655Ile)
c.1693+41587G>C (n.1693+41587G>C)
c.1696+41587G>C (n.1696+41587G>C)
c.1857G>C (p.Met619Ile)
c.3702G>C (p.Met1234Ile)
c.3951G>C (p.Met1317Ile)
c.3858G>C (p.Met1286Ile)
c.3855G>C (p.Met1285Ile)
c.3798G>C (p.Met1266Ile)
c.3786G>C (p.Met1262Ile)
c.3768G>C (p.Met1256Ile)
c.3705G>C (p.Met1235Ile)
c.3678G>C (p.Met1226Ile)
c.3660G>C (p.Met1220Ile)
c.3645G>C (p.Met1215Ile)
c.3630G>C (p.Met1210Ile)
c.2208G>C (p.Met736Ile)
c.2028G>C (p.Met676Ile)
c.282G>C (p.Met94Ile)
c.114G>C (p.Met38Ile)
c.4038G>C (p.Met1346Ile)
c.3675G>C (p.Met1225Ile)
c.3636G>C (p.Met1212Ile)
c.2205G>C (p.Met735Ile)
6g.72333633G=CA1637650211RIMS1c.3633G= (p.Met1211=)
c.4164G= (p.Met1388=)
c.3711G= (p.Met1237=)
c.1308G= (p.Met436=)
c.2124G= (p.Met708=)
c.1570+41587G= (n.1570+41587G=)
c.1659G= (p.Met553=)
n.254+41587G=
c.2200G=
c.1768+41587G= (n.1768+41587G=)
c.3513G= (p.Met1171=)
c.3403+41587G= (n.3403+41587G=)
c.3316+41587G= (n.3316+41587G=)
c.917G=
c.3163+41587G= (n.3163+41587G=)
c.1741+41587G= (n.1741+41587G=)
c.2337G= (p.Met779=)
c.2184G= (p.Met728=)
c.2121G= (p.Met707=)
c.4110G= (p.Met1370=)
c.2082G= (p.Met694=)
c.2064G= (p.Met688=)
c.2001G= (p.Met667=)
c.1932G= (p.Met644=)
c.1929G= (p.Met643=)
c.1896G= (p.Met632=)
c.1810+41587G= (n.1810+41587G=)
c.1738+41587G= (n.1738+41587G=)
c.1735+41587G= (n.1735+41587G=)
c.1720+41587G= (n.1720+41587G=)
c.1582+41587G= (n.1582+41587G=)
c.456G= (p.Met152=)
c.2085G= (p.Met695=)
c.2181G= (p.Met727=)
c.2130G= (p.Met710=)
c.1813+41587G= (n.1813+41587G=)
c.2103G= (p.Met701=)
c.1585+41587G= (n.1585+41587G=)
c.2238G= (p.Met746=)
c.1983G= (p.Met661=)
c.1872G= (p.Met624=)
c.1672+41587G= (n.1672+41587G=)
c.1660+41587G= (n.1660+41587G=)
c.1744+41587G= (n.1744+41587G=)
c.1902G= (p.Met634=)
c.2220G= (p.Met740=)
c.1648+41587G= (n.1648+41587G=)
c.2211G= (p.Met737=)
c.1888+41587G= (n.1888+41587G=)
c.2073G= (p.Met691=)
c.2316G= (p.Met772=)
c.2067G= (p.Met689=)
c.1993+41587G= (n.1993+41587G=)
c.2055G= (p.Met685=)
c.1657+41587G= (n.1657+41587G=)
c.2052G= (p.Met684=)
c.1996+41587G= (n.1996+41587G=)
c.2025G= (p.Met675=)
c.1899G= (p.Met633=)
c.1894+41587G= (n.1894+41587G=)
c.2310G= (p.Met770=)
c.1971G= (p.Met657=)
c.2127G= (p.Met709=)
c.1669+41587G= (n.1669+41587G=)
c.2034G= (p.Met678=)
c.1588+41587G= (n.1588+41587G=)
c.2307G= (p.Met769=)
c.2133G= (p.Met711=)
c.1986G= (p.Met662=)
c.2004G= (p.Met668=)
c.1854G= (p.Met618=)
c.2169G= (p.Met723=)
c.1809G= (p.Met603=)
c.1812G= (p.Met604=)
c.1498+41587G= (n.1498+41587G=)
c.1815G= (p.Met605=)
c.1731G= (p.Met577=)
c.1656G= (p.Met552=)
c.1884G= (p.Met628=)
c.1774+41587G= (n.1774+41587G=)
c.1965G= (p.Met655=)
c.1693+41587G= (n.1693+41587G=)
c.1696+41587G= (n.1696+41587G=)
c.1857G= (p.Met619=)
c.3702G= (p.Met1234=)
c.3951G= (p.Met1317=)
c.3858G= (p.Met1286=)
c.3855G= (p.Met1285=)
c.3798G= (p.Met1266=)
c.3786G= (p.Met1262=)
c.3768G= (p.Met1256=)
c.3705G= (p.Met1235=)
c.3678G= (p.Met1226=)
c.3660G= (p.Met1220=)
c.3645G= (p.Met1215=)
c.3630G= (p.Met1210=)
c.2208G= (p.Met736=)
c.2028G= (p.Met676=)
c.282G= (p.Met94=)
c.114G= (p.Met38=)
c.4038G= (p.Met1346=)
c.3675G= (p.Met1225=)
c.3636G= (p.Met1212=)
c.2205G= (p.Met735=)
6g.72333633G>TCA364692706RIMS1c.3633G>T (p.Met1211Ile)
c.4164G>T (p.Met1388Ile)
c.3711G>T (p.Met1237Ile)
c.1308G>T (p.Met436Ile)
c.2124G>T (p.Met708Ile)
c.1570+41587G>T (n.1570+41587G>T)
c.1659G>T (p.Met553Ile)
n.254+41587G>T
c.2200G>T
c.1768+41587G>T (n.1768+41587G>T)
c.3513G>T (p.Met1171Ile)
c.3403+41587G>T (n.3403+41587G>T)
c.3316+41587G>T (n.3316+41587G>T)
c.917G>T
c.3163+41587G>T (n.3163+41587G>T)
c.1741+41587G>T (n.1741+41587G>T)
c.2337G>T (p.Met779Ile)
c.2184G>T (p.Met728Ile)
c.2121G>T (p.Met707Ile)
c.4110G>T (p.Met1370Ile)
c.2082G>T (p.Met694Ile)
c.2064G>T (p.Met688Ile)
c.2001G>T (p.Met667Ile)
c.1932G>T (p.Met644Ile)
c.1929G>T (p.Met643Ile)
c.1896G>T (p.Met632Ile)
c.1810+41587G>T (n.1810+41587G>T)
c.1738+41587G>T (n.1738+41587G>T)
c.1735+41587G>T (n.1735+41587G>T)
c.1720+41587G>T (n.1720+41587G>T)
c.1582+41587G>T (n.1582+41587G>T)
c.456G>T (p.Met152Ile)
c.2085G>T (p.Met695Ile)
c.2181G>T (p.Met727Ile)
c.2130G>T (p.Met710Ile)
c.1813+41587G>T (n.1813+41587G>T)
c.2103G>T (p.Met701Ile)
c.1585+41587G>T (n.1585+41587G>T)
c.2238G>T (p.Met746Ile)
c.1983G>T (p.Met661Ile)
c.1872G>T (p.Met624Ile)
c.1672+41587G>T (n.1672+41587G>T)
c.1660+41587G>T (n.1660+41587G>T)
c.1744+41587G>T (n.1744+41587G>T)
c.1902G>T (p.Met634Ile)
c.2220G>T (p.Met740Ile)
c.1648+41587G>T (n.1648+41587G>T)
c.2211G>T (p.Met737Ile)
c.1888+41587G>T (n.1888+41587G>T)
c.2073G>T (p.Met691Ile)
c.2316G>T (p.Met772Ile)
c.2067G>T (p.Met689Ile)
c.1993+41587G>T (n.1993+41587G>T)
c.2055G>T (p.Met685Ile)
c.1657+41587G>T (n.1657+41587G>T)
c.2052G>T (p.Met684Ile)
c.1996+41587G>T (n.1996+41587G>T)
c.2025G>T (p.Met675Ile)
c.1899G>T (p.Met633Ile)
c.1894+41587G>T (n.1894+41587G>T)
c.2310G>T (p.Met770Ile)
c.1971G>T (p.Met657Ile)
c.2127G>T (p.Met709Ile)
c.1669+41587G>T (n.1669+41587G>T)
c.2034G>T (p.Met678Ile)
c.1588+41587G>T (n.1588+41587G>T)
c.2307G>T (p.Met769Ile)
c.2133G>T (p.Met711Ile)
c.1986G>T (p.Met662Ile)
c.2004G>T (p.Met668Ile)
c.1854G>T (p.Met618Ile)
c.2169G>T (p.Met723Ile)
c.1809G>T (p.Met603Ile)
c.1812G>T (p.Met604Ile)
c.1498+41587G>T (n.1498+41587G>T)
c.1815G>T (p.Met605Ile)
c.1731G>T (p.Met577Ile)
c.1656G>T (p.Met552Ile)
c.1884G>T (p.Met628Ile)
c.1774+41587G>T (n.1774+41587G>T)
c.1965G>T (p.Met655Ile)
c.1693+41587G>T (n.1693+41587G>T)
c.1696+41587G>T (n.1696+41587G>T)
c.1857G>T (p.Met619Ile)
c.3702G>T (p.Met1234Ile)
c.3951G>T (p.Met1317Ile)
c.3858G>T (p.Met1286Ile)
c.3855G>T (p.Met1285Ile)
c.3798G>T (p.Met1266Ile)
c.3786G>T (p.Met1262Ile)
c.3768G>T (p.Met1256Ile)
c.3705G>T (p.Met1235Ile)
c.3678G>T (p.Met1226Ile)
c.3660G>T (p.Met1220Ile)
c.3645G>T (p.Met1215Ile)
c.3630G>T (p.Met1210Ile)
c.2208G>T (p.Met736Ile)
c.2028G>T (p.Met676Ile)
c.282G>T (p.Met94Ile)
c.114G>T (p.Met38Ile)
c.4038G>T (p.Met1346Ile)
c.3675G>T (p.Met1225Ile)
c.3636G>T (p.Met1212Ile)
c.2205G>T (p.Met735Ile)
 gnomAD v4
6g.72333634G>ACA364692707RIMS1c.3634G>A (p.Gly1212Arg)
c.4165G>A (p.Gly1389Arg)
c.3712G>A (p.Gly1238Arg)
c.1309G>A (p.Gly437Arg)
c.2125G>A (p.Gly709Arg)
c.1570+41588G>A (n.1570+41588G>A)
c.1660G>A (p.Gly554Arg)
n.254+41588G>A
c.2201G>A
c.1768+41588G>A (n.1768+41588G>A)
c.3514G>A (p.Gly1172Arg)
c.3403+41588G>A (n.3403+41588G>A)
c.3316+41588G>A (n.3316+41588G>A)
c.918G>A
c.3163+41588G>A (n.3163+41588G>A)
c.1741+41588G>A (n.1741+41588G>A)
c.2338G>A (p.Gly780Arg)
c.2185G>A (p.Gly729Arg)
c.2122G>A (p.Gly708Arg)
c.4111G>A (p.Gly1371Arg)
c.2083G>A (p.Gly695Arg)
c.2065G>A (p.Gly689Arg)
c.2002G>A (p.Gly668Arg)
c.1933G>A (p.Gly645Arg)
c.1930G>A (p.Gly644Arg)
c.1897G>A (p.Gly633Arg)
c.1810+41588G>A (n.1810+41588G>A)
c.1738+41588G>A (n.1738+41588G>A)
c.1735+41588G>A (n.1735+41588G>A)
c.1720+41588G>A (n.1720+41588G>A)
c.1582+41588G>A (n.1582+41588G>A)
c.457G>A (p.Gly153Arg)
c.2086G>A (p.Gly696Arg)
c.2182G>A (p.Gly728Arg)
c.2131G>A (p.Gly711Arg)
c.1813+41588G>A (n.1813+41588G>A)
c.2104G>A (p.Gly702Arg)
c.1585+41588G>A (n.1585+41588G>A)
c.2239G>A (p.Gly747Arg)
c.1984G>A (p.Gly662Arg)
c.1873G>A (p.Gly625Arg)
c.1672+41588G>A (n.1672+41588G>A)
c.1660+41588G>A (n.1660+41588G>A)
c.1744+41588G>A (n.1744+41588G>A)
c.1903G>A (p.Gly635Arg)
c.2221G>A (p.Gly741Arg)
c.1648+41588G>A (n.1648+41588G>A)
c.2212G>A (p.Gly738Arg)
c.1888+41588G>A (n.1888+41588G>A)
c.2074G>A (p.Gly692Arg)
c.2317G>A (p.Gly773Arg)
c.2068G>A (p.Gly690Arg)
c.1993+41588G>A (n.1993+41588G>A)
c.2056G>A (p.Gly686Arg)
c.1657+41588G>A (n.1657+41588G>A)
c.2053G>A (p.Gly685Arg)
c.1996+41588G>A (n.1996+41588G>A)
c.2026G>A (p.Gly676Arg)
c.1900G>A (p.Gly634Arg)
c.1894+41588G>A (n.1894+41588G>A)
c.2311G>A (p.Gly771Arg)
c.1972G>A (p.Gly658Arg)
c.2128G>A (p.Gly710Arg)
c.1669+41588G>A (n.1669+41588G>A)
c.2035G>A (p.Gly679Arg)
c.1588+41588G>A (n.1588+41588G>A)
c.2308G>A (p.Gly770Arg)
c.2134G>A (p.Gly712Arg)
c.1987G>A (p.Gly663Arg)
c.2005G>A (p.Gly669Arg)
c.1855G>A (p.Gly619Arg)
c.2170G>A (p.Gly724Arg)
c.1810G>A (p.Gly604Arg)
c.1813G>A (p.Gly605Arg)
c.1498+41588G>A (n.1498+41588G>A)
c.1816G>A (p.Gly606Arg)
c.1732G>A (p.Gly578Arg)
c.1657G>A (p.Gly553Arg)
c.1885G>A (p.Gly629Arg)
c.1774+41588G>A (n.1774+41588G>A)
c.1966G>A (p.Gly656Arg)
c.1693+41588G>A (n.1693+41588G>A)
c.1696+41588G>A (n.1696+41588G>A)
c.1858G>A (p.Gly620Arg)
c.3703G>A (p.Gly1235Arg)
c.3952G>A (p.Gly1318Arg)
c.3859G>A (p.Gly1287Arg)
c.3856G>A (p.Gly1286Arg)
c.3799G>A (p.Gly1267Arg)
c.3787G>A (p.Gly1263Arg)
c.3769G>A (p.Gly1257Arg)
c.3706G>A (p.Gly1236Arg)
c.3679G>A (p.Gly1227Arg)
c.3661G>A (p.Gly1221Arg)
c.3646G>A (p.Gly1216Arg)
c.3631G>A (p.Gly1211Arg)
c.2209G>A (p.Gly737Arg)
c.2029G>A (p.Gly677Arg)
c.283G>A (p.Gly95Arg)
c.115G>A (p.Gly39Arg)
c.4039G>A (p.Gly1347Arg)
c.3676G>A (p.Gly1226Arg)
c.3637G>A (p.Gly1213Arg)
c.2206G>A (p.Gly736Arg)
 dbSNP gnomAD v4
6g.72333634G>CCA364692708RIMS1c.3634G>C (p.Gly1212Arg)
c.4165G>C (p.Gly1389Arg)
c.3712G>C (p.Gly1238Arg)
c.1309G>C (p.Gly437Arg)
c.2125G>C (p.Gly709Arg)
c.1570+41588G>C (n.1570+41588G>C)
c.1660G>C (p.Gly554Arg)
n.254+41588G>C
c.2201G>C
c.1768+41588G>C (n.1768+41588G>C)
c.3514G>C (p.Gly1172Arg)
c.3403+41588G>C (n.3403+41588G>C)
c.3316+41588G>C (n.3316+41588G>C)
c.918G>C
c.3163+41588G>C (n.3163+41588G>C)
c.1741+41588G>C (n.1741+41588G>C)
c.2338G>C (p.Gly780Arg)
c.2185G>C (p.Gly729Arg)
c.2122G>C (p.Gly708Arg)
c.4111G>C (p.Gly1371Arg)
c.2083G>C (p.Gly695Arg)
c.2065G>C (p.Gly689Arg)
c.2002G>C (p.Gly668Arg)
c.1933G>C (p.Gly645Arg)
c.1930G>C (p.Gly644Arg)
c.1897G>C (p.Gly633Arg)
c.1810+41588G>C (n.1810+41588G>C)
c.1738+41588G>C (n.1738+41588G>C)
c.1735+41588G>C (n.1735+41588G>C)
c.1720+41588G>C (n.1720+41588G>C)
c.1582+41588G>C (n.1582+41588G>C)
c.457G>C (p.Gly153Arg)
c.2086G>C (p.Gly696Arg)
c.2182G>C (p.Gly728Arg)
c.2131G>C (p.Gly711Arg)
c.1813+41588G>C (n.1813+41588G>C)
c.2104G>C (p.Gly702Arg)
c.1585+41588G>C (n.1585+41588G>C)
c.2239G>C (p.Gly747Arg)
c.1984G>C (p.Gly662Arg)
c.1873G>C (p.Gly625Arg)
c.1672+41588G>C (n.1672+41588G>C)
c.1660+41588G>C (n.1660+41588G>C)
c.1744+41588G>C (n.1744+41588G>C)
c.1903G>C (p.Gly635Arg)
c.2221G>C (p.Gly741Arg)
c.1648+41588G>C (n.1648+41588G>C)
c.2212G>C (p.Gly738Arg)
c.1888+41588G>C (n.1888+41588G>C)
c.2074G>C (p.Gly692Arg)
c.2317G>C (p.Gly773Arg)
c.2068G>C (p.Gly690Arg)
c.1993+41588G>C (n.1993+41588G>C)
c.2056G>C (p.Gly686Arg)
c.1657+41588G>C (n.1657+41588G>C)
c.2053G>C (p.Gly685Arg)
c.1996+41588G>C (n.1996+41588G>C)
c.2026G>C (p.Gly676Arg)
c.1900G>C (p.Gly634Arg)
c.1894+41588G>C (n.1894+41588G>C)
c.2311G>C (p.Gly771Arg)
c.1972G>C (p.Gly658Arg)
c.2128G>C (p.Gly710Arg)
c.1669+41588G>C (n.1669+41588G>C)
c.2035G>C (p.Gly679Arg)
c.1588+41588G>C (n.1588+41588G>C)
c.2308G>C (p.Gly770Arg)
c.2134G>C (p.Gly712Arg)
c.1987G>C (p.Gly663Arg)
c.2005G>C (p.Gly669Arg)
c.1855G>C (p.Gly619Arg)
c.2170G>C (p.Gly724Arg)
c.1810G>C (p.Gly604Arg)
c.1813G>C (p.Gly605Arg)
c.1498+41588G>C (n.1498+41588G>C)
c.1816G>C (p.Gly606Arg)
c.1732G>C (p.Gly578Arg)
c.1657G>C (p.Gly553Arg)
c.1885G>C (p.Gly629Arg)
c.1774+41588G>C (n.1774+41588G>C)
c.1966G>C (p.Gly656Arg)
c.1693+41588G>C (n.1693+41588G>C)
c.1696+41588G>C (n.1696+41588G>C)
c.1858G>C (p.Gly620Arg)
c.3703G>C (p.Gly1235Arg)
c.3952G>C (p.Gly1318Arg)
c.3859G>C (p.Gly1287Arg)
c.3856G>C (p.Gly1286Arg)
c.3799G>C (p.Gly1267Arg)
c.3787G>C (p.Gly1263Arg)
c.3769G>C (p.Gly1257Arg)
c.3706G>C (p.Gly1236Arg)
c.3679G>C (p.Gly1227Arg)
c.3661G>C (p.Gly1221Arg)
c.3646G>C (p.Gly1216Arg)
c.3631G>C (p.Gly1211Arg)
c.2209G>C (p.Gly737Arg)
c.2029G>C (p.Gly677Arg)
c.283G>C (p.Gly95Arg)
c.115G>C (p.Gly39Arg)
c.4039G>C (p.Gly1347Arg)
c.3676G>C (p.Gly1226Arg)
c.3637G>C (p.Gly1213Arg)
c.2206G>C (p.Gly736Arg)
6g.72333634G=CA1637650214RIMS1c.3634G= (p.Gly1212=)
c.4165G= (p.Gly1389=)
c.3712G= (p.Gly1238=)
c.1309G= (p.Gly437=)
c.2125G= (p.Gly709=)
c.1570+41588G= (n.1570+41588G=)
c.1660G= (p.Gly554=)
n.254+41588G=
c.2201G=
c.1768+41588G= (n.1768+41588G=)
c.3514G= (p.Gly1172=)
c.3403+41588G= (n.3403+41588G=)
c.3316+41588G= (n.3316+41588G=)
c.918G=
c.3163+41588G= (n.3163+41588G=)
c.1741+41588G= (n.1741+41588G=)
c.2338G= (p.Gly780=)
c.2185G= (p.Gly729=)
c.2122G= (p.Gly708=)
c.4111G= (p.Gly1371=)
c.2083G= (p.Gly695=)
c.2065G= (p.Gly689=)
c.2002G= (p.Gly668=)
c.1933G= (p.Gly645=)
c.1930G= (p.Gly644=)
c.1897G= (p.Gly633=)
c.1810+41588G= (n.1810+41588G=)
c.1738+41588G= (n.1738+41588G=)
c.1735+41588G= (n.1735+41588G=)
c.1720+41588G= (n.1720+41588G=)
c.1582+41588G= (n.1582+41588G=)
c.457G= (p.Gly153=)
c.2086G= (p.Gly696=)
c.2182G= (p.Gly728=)
c.2131G= (p.Gly711=)
c.1813+41588G= (n.1813+41588G=)
c.2104G= (p.Gly702=)
c.1585+41588G= (n.1585+41588G=)
c.2239G= (p.Gly747=)
c.1984G= (p.Gly662=)
c.1873G= (p.Gly625=)
c.1672+41588G= (n.1672+41588G=)
c.1660+41588G= (n.1660+41588G=)
c.1744+41588G= (n.1744+41588G=)
c.1903G= (p.Gly635=)
c.2221G= (p.Gly741=)
c.1648+41588G= (n.1648+41588G=)
c.2212G= (p.Gly738=)
c.1888+41588G= (n.1888+41588G=)
c.2074G= (p.Gly692=)
c.2317G= (p.Gly773=)
c.2068G= (p.Gly690=)
c.1993+41588G= (n.1993+41588G=)
c.2056G= (p.Gly686=)
c.1657+41588G= (n.1657+41588G=)
c.2053G= (p.Gly685=)
c.1996+41588G= (n.1996+41588G=)
c.2026G= (p.Gly676=)
c.1900G= (p.Gly634=)
c.1894+41588G= (n.1894+41588G=)
c.2311G= (p.Gly771=)
c.1972G= (p.Gly658=)
c.2128G= (p.Gly710=)
c.1669+41588G= (n.1669+41588G=)
c.2035G= (p.Gly679=)
c.1588+41588G= (n.1588+41588G=)
c.2308G= (p.Gly770=)
c.2134G= (p.Gly712=)
c.1987G= (p.Gly663=)
c.2005G= (p.Gly669=)
c.1855G= (p.Gly619=)
c.2170G= (p.Gly724=)
c.1810G= (p.Gly604=)
c.1813G= (p.Gly605=)
c.1498+41588G= (n.1498+41588G=)
c.1816G= (p.Gly606=)
c.1732G= (p.Gly578=)
c.1657G= (p.Gly553=)
c.1885G= (p.Gly629=)
c.1774+41588G= (n.1774+41588G=)
c.1966G= (p.Gly656=)
c.1693+41588G= (n.1693+41588G=)
c.1696+41588G= (n.1696+41588G=)
c.1858G= (p.Gly620=)
c.3703G= (p.Gly1235=)
c.3952G= (p.Gly1318=)
c.3859G= (p.Gly1287=)
c.3856G= (p.Gly1286=)
c.3799G= (p.Gly1267=)
c.3787G= (p.Gly1263=)
c.3769G= (p.Gly1257=)
c.3706G= (p.Gly1236=)
c.3679G= (p.Gly1227=)
c.3661G= (p.Gly1221=)
c.3646G= (p.Gly1216=)
c.3631G= (p.Gly1211=)
c.2209G= (p.Gly737=)
c.2029G= (p.Gly677=)
c.283G= (p.Gly95=)
c.115G= (p.Gly39=)
c.4039G= (p.Gly1347=)
c.3676G= (p.Gly1226=)
c.3637G= (p.Gly1213=)
c.2206G= (p.Gly736=)
6g.72333634G>TCA364692709RIMS1c.3634G>T (p.Gly1212Trp)
c.4165G>T (p.Gly1389Trp)
c.3712G>T (p.Gly1238Trp)
c.1309G>T (p.Gly437Trp)
c.2125G>T (p.Gly709Trp)
c.1570+41588G>T (n.1570+41588G>T)
c.1660G>T (p.Gly554Trp)
n.254+41588G>T
c.2201G>T
c.1768+41588G>T (n.1768+41588G>T)
c.3514G>T (p.Gly1172Trp)
c.3403+41588G>T (n.3403+41588G>T)
c.3316+41588G>T (n.3316+41588G>T)
c.918G>T
c.3163+41588G>T (n.3163+41588G>T)
c.1741+41588G>T (n.1741+41588G>T)
c.2338G>T (p.Gly780Trp)
c.2185G>T (p.Gly729Trp)
c.2122G>T (p.Gly708Trp)
c.4111G>T (p.Gly1371Trp)
c.2083G>T (p.Gly695Trp)
c.2065G>T (p.Gly689Trp)
c.2002G>T (p.Gly668Trp)
c.1933G>T (p.Gly645Trp)
c.1930G>T (p.Gly644Trp)
c.1897G>T (p.Gly633Trp)
c.1810+41588G>T (n.1810+41588G>T)
c.1738+41588G>T (n.1738+41588G>T)
c.1735+41588G>T (n.1735+41588G>T)
c.1720+41588G>T (n.1720+41588G>T)
c.1582+41588G>T (n.1582+41588G>T)
c.457G>T (p.Gly153Trp)
c.2086G>T (p.Gly696Trp)
c.2182G>T (p.Gly728Trp)
c.2131G>T (p.Gly711Trp)
c.1813+41588G>T (n.1813+41588G>T)
c.2104G>T (p.Gly702Trp)
c.1585+41588G>T (n.1585+41588G>T)
c.2239G>T (p.Gly747Trp)
c.1984G>T (p.Gly662Trp)
c.1873G>T (p.Gly625Trp)
c.1672+41588G>T (n.1672+41588G>T)
c.1660+41588G>T (n.1660+41588G>T)
c.1744+41588G>T (n.1744+41588G>T)
c.1903G>T (p.Gly635Trp)
c.2221G>T (p.Gly741Trp)
c.1648+41588G>T (n.1648+41588G>T)
c.2212G>T (p.Gly738Trp)
c.1888+41588G>T (n.1888+41588G>T)
c.2074G>T (p.Gly692Trp)
c.2317G>T (p.Gly773Trp)
c.2068G>T (p.Gly690Trp)
c.1993+41588G>T (n.1993+41588G>T)
c.2056G>T (p.Gly686Trp)
c.1657+41588G>T (n.1657+41588G>T)
c.2053G>T (p.Gly685Trp)
c.1996+41588G>T (n.1996+41588G>T)
c.2026G>T (p.Gly676Trp)
c.1900G>T (p.Gly634Trp)
c.1894+41588G>T (n.1894+41588G>T)
c.2311G>T (p.Gly771Trp)
c.1972G>T (p.Gly658Trp)
c.2128G>T (p.Gly710Trp)
c.1669+41588G>T (n.1669+41588G>T)
c.2035G>T (p.Gly679Trp)
c.1588+41588G>T (n.1588+41588G>T)
c.2308G>T (p.Gly770Trp)
c.2134G>T (p.Gly712Trp)
c.1987G>T (p.Gly663Trp)
c.2005G>T (p.Gly669Trp)
c.1855G>T (p.Gly619Trp)
c.2170G>T (p.Gly724Trp)
c.1810G>T (p.Gly604Trp)
c.1813G>T (p.Gly605Trp)
c.1498+41588G>T (n.1498+41588G>T)
c.1816G>T (p.Gly606Trp)
c.1732G>T (p.Gly578Trp)
c.1657G>T (p.Gly553Trp)
c.1885G>T (p.Gly629Trp)
c.1774+41588G>T (n.1774+41588G>T)
c.1966G>T (p.Gly656Trp)
c.1693+41588G>T (n.1693+41588G>T)
c.1696+41588G>T (n.1696+41588G>T)
c.1858G>T (p.Gly620Trp)
c.3703G>T (p.Gly1235Trp)
c.3952G>T (p.Gly1318Trp)
c.3859G>T (p.Gly1287Trp)
c.3856G>T (p.Gly1286Trp)
c.3799G>T (p.Gly1267Trp)
c.3787G>T (p.Gly1263Trp)
c.3769G>T (p.Gly1257Trp)
c.3706G>T (p.Gly1236Trp)
c.3679G>T (p.Gly1227Trp)
c.3661G>T (p.Gly1221Trp)
c.3646G>T (p.Gly1216Trp)
c.3631G>T (p.Gly1211Trp)
c.2209G>T (p.Gly737Trp)
c.2029G>T (p.Gly677Trp)
c.283G>T (p.Gly95Trp)
c.115G>T (p.Gly39Trp)
c.4039G>T (p.Gly1347Trp)
c.3676G>T (p.Gly1226Trp)
c.3637G>T (p.Gly1213Trp)
c.2206G>T (p.Gly736Trp)
 gnomAD v4
6g.72333635G>ACA364692710RIMS1c.3635G>A (p.Gly1212Glu)
c.4166G>A (p.Gly1389Glu)
c.3713G>A (p.Gly1238Glu)
c.1310G>A (p.Gly437Glu)
c.2126G>A (p.Gly709Glu)
c.1570+41589G>A (n.1570+41589G>A)
c.1661G>A (p.Gly554Glu)
n.254+41589G>A
c.2202G>A
c.1768+41589G>A (n.1768+41589G>A)
c.3515G>A (p.Gly1172Glu)
c.3403+41589G>A (n.3403+41589G>A)
c.3316+41589G>A (n.3316+41589G>A)
c.919G>A
c.3163+41589G>A (n.3163+41589G>A)
c.1741+41589G>A (n.1741+41589G>A)
c.2339G>A (p.Gly780Glu)
c.2186G>A (p.Gly729Glu)
c.2123G>A (p.Gly708Glu)
c.4112G>A (p.Gly1371Glu)
c.2084G>A (p.Gly695Glu)
c.2066G>A (p.Gly689Glu)
c.2003G>A (p.Gly668Glu)
c.1934G>A (p.Gly645Glu)
c.1931G>A (p.Gly644Glu)
c.1898G>A (p.Gly633Glu)
c.1810+41589G>A (n.1810+41589G>A)
c.1738+41589G>A (n.1738+41589G>A)
c.1735+41589G>A (n.1735+41589G>A)
c.1720+41589G>A (n.1720+41589G>A)
c.1582+41589G>A (n.1582+41589G>A)
c.458G>A (p.Gly153Glu)
c.2087G>A (p.Gly696Glu)
c.2183G>A (p.Gly728Glu)
c.2132G>A (p.Gly711Glu)
c.1813+41589G>A (n.1813+41589G>A)
c.2105G>A (p.Gly702Glu)
c.1585+41589G>A (n.1585+41589G>A)
c.2240G>A (p.Gly747Glu)
c.1985G>A (p.Gly662Glu)
c.1874G>A (p.Gly625Glu)
c.1672+41589G>A (n.1672+41589G>A)
c.1660+41589G>A (n.1660+41589G>A)
c.1744+41589G>A (n.1744+41589G>A)
c.1904G>A (p.Gly635Glu)
c.2222G>A (p.Gly741Glu)
c.1648+41589G>A (n.1648+41589G>A)
c.2213G>A (p.Gly738Glu)
c.1888+41589G>A (n.1888+41589G>A)
c.2075G>A (p.Gly692Glu)
c.2318G>A (p.Gly773Glu)
c.2069G>A (p.Gly690Glu)
c.1993+41589G>A (n.1993+41589G>A)
c.2057G>A (p.Gly686Glu)
c.1657+41589G>A (n.1657+41589G>A)
c.2054G>A (p.Gly685Glu)
c.1996+41589G>A (n.1996+41589G>A)
c.2027G>A (p.Gly676Glu)
c.1901G>A (p.Gly634Glu)
c.1894+41589G>A (n.1894+41589G>A)
c.2312G>A (p.Gly771Glu)
c.1973G>A (p.Gly658Glu)
c.2129G>A (p.Gly710Glu)
c.1669+41589G>A (n.1669+41589G>A)
c.2036G>A (p.Gly679Glu)
c.1588+41589G>A (n.1588+41589G>A)
c.2309G>A (p.Gly770Glu)
c.2135G>A (p.Gly712Glu)
c.1988G>A (p.Gly663Glu)
c.2006G>A (p.Gly669Glu)
c.1856G>A (p.Gly619Glu)
c.2171G>A (p.Gly724Glu)
c.1811G>A (p.Gly604Glu)
c.1814G>A (p.Gly605Glu)
c.1498+41589G>A (n.1498+41589G>A)
c.1817G>A (p.Gly606Glu)
c.1733G>A (p.Gly578Glu)
c.1658G>A (p.Gly553Glu)
c.1886G>A (p.Gly629Glu)
c.1774+41589G>A (n.1774+41589G>A)
c.1967G>A (p.Gly656Glu)
c.1693+41589G>A (n.1693+41589G>A)
c.1696+41589G>A (n.1696+41589G>A)
c.1859G>A (p.Gly620Glu)
c.3704G>A (p.Gly1235Glu)
c.3953G>A (p.Gly1318Glu)
c.3860G>A (p.Gly1287Glu)
c.3857G>A (p.Gly1286Glu)
c.3800G>A (p.Gly1267Glu)
c.3788G>A (p.Gly1263Glu)
c.3770G>A (p.Gly1257Glu)
c.3707G>A (p.Gly1236Glu)
c.3680G>A (p.Gly1227Glu)
c.3662G>A (p.Gly1221Glu)
c.3647G>A (p.Gly1216Glu)
c.3632G>A (p.Gly1211Glu)
c.2210G>A (p.Gly737Glu)
c.2030G>A (p.Gly677Glu)
c.284G>A (p.Gly95Glu)
c.116G>A (p.Gly39Glu)
c.4040G>A (p.Gly1347Glu)
c.3677G>A (p.Gly1226Glu)
c.3638G>A (p.Gly1213Glu)
c.2207G>A (p.Gly736Glu)
 dbSNP gnomAD v4
6g.72333635G>CCA364692711RIMS1c.3635G>C (p.Gly1212Ala)
c.4166G>C (p.Gly1389Ala)
c.3713G>C (p.Gly1238Ala)
c.1310G>C (p.Gly437Ala)
c.2126G>C (p.Gly709Ala)
c.1570+41589G>C (n.1570+41589G>C)
c.1661G>C (p.Gly554Ala)
n.254+41589G>C
c.2202G>C
c.1768+41589G>C (n.1768+41589G>C)
c.3515G>C (p.Gly1172Ala)
c.3403+41589G>C (n.3403+41589G>C)
c.3316+41589G>C (n.3316+41589G>C)
c.919G>C
c.3163+41589G>C (n.3163+41589G>C)
c.1741+41589G>C (n.1741+41589G>C)
c.2339G>C (p.Gly780Ala)
c.2186G>C (p.Gly729Ala)
c.2123G>C (p.Gly708Ala)
c.4112G>C (p.Gly1371Ala)
c.2084G>C (p.Gly695Ala)
c.2066G>C (p.Gly689Ala)
c.2003G>C (p.Gly668Ala)
c.1934G>C (p.Gly645Ala)
c.1931G>C (p.Gly644Ala)
c.1898G>C (p.Gly633Ala)
c.1810+41589G>C (n.1810+41589G>C)
c.1738+41589G>C (n.1738+41589G>C)
c.1735+41589G>C (n.1735+41589G>C)
c.1720+41589G>C (n.1720+41589G>C)
c.1582+41589G>C (n.1582+41589G>C)
c.458G>C (p.Gly153Ala)
c.2087G>C (p.Gly696Ala)
c.2183G>C (p.Gly728Ala)
c.2132G>C (p.Gly711Ala)
c.1813+41589G>C (n.1813+41589G>C)
c.2105G>C (p.Gly702Ala)
c.1585+41589G>C (n.1585+41589G>C)
c.2240G>C (p.Gly747Ala)
c.1985G>C (p.Gly662Ala)
c.1874G>C (p.Gly625Ala)
c.1672+41589G>C (n.1672+41589G>C)
c.1660+41589G>C (n.1660+41589G>C)
c.1744+41589G>C (n.1744+41589G>C)
c.1904G>C (p.Gly635Ala)
c.2222G>C (p.Gly741Ala)
c.1648+41589G>C (n.1648+41589G>C)
c.2213G>C (p.Gly738Ala)
c.1888+41589G>C (n.1888+41589G>C)
c.2075G>C (p.Gly692Ala)
c.2318G>C (p.Gly773Ala)
c.2069G>C (p.Gly690Ala)
c.1993+41589G>C (n.1993+41589G>C)
c.2057G>C (p.Gly686Ala)
c.1657+41589G>C (n.1657+41589G>C)
c.2054G>C (p.Gly685Ala)
c.1996+41589G>C (n.1996+41589G>C)
c.2027G>C (p.Gly676Ala)
c.1901G>C (p.Gly634Ala)
c.1894+41589G>C (n.1894+41589G>C)
c.2312G>C (p.Gly771Ala)
c.1973G>C (p.Gly658Ala)
c.2129G>C (p.Gly710Ala)
c.1669+41589G>C (n.1669+41589G>C)
c.2036G>C (p.Gly679Ala)
c.1588+41589G>C (n.1588+41589G>C)
c.2309G>C (p.Gly770Ala)
c.2135G>C (p.Gly712Ala)
c.1988G>C (p.Gly663Ala)
c.2006G>C (p.Gly669Ala)
c.1856G>C (p.Gly619Ala)
c.2171G>C (p.Gly724Ala)
c.1811G>C (p.Gly604Ala)
c.1814G>C (p.Gly605Ala)
c.1498+41589G>C (n.1498+41589G>C)
c.1817G>C (p.Gly606Ala)
c.1733G>C (p.Gly578Ala)
c.1658G>C (p.Gly553Ala)
c.1886G>C (p.Gly629Ala)
c.1774+41589G>C (n.1774+41589G>C)
c.1967G>C (p.Gly656Ala)
c.1693+41589G>C (n.1693+41589G>C)
c.1696+41589G>C (n.1696+41589G>C)
c.1859G>C (p.Gly620Ala)
c.3704G>C (p.Gly1235Ala)
c.3953G>C (p.Gly1318Ala)
c.3860G>C (p.Gly1287Ala)
c.3857G>C (p.Gly1286Ala)
c.3800G>C (p.Gly1267Ala)
c.3788G>C (p.Gly1263Ala)
c.3770G>C (p.Gly1257Ala)
c.3707G>C (p.Gly1236Ala)
c.3680G>C (p.Gly1227Ala)
c.3662G>C (p.Gly1221Ala)
c.3647G>C (p.Gly1216Ala)
c.3632G>C (p.Gly1211Ala)
c.2210G>C (p.Gly737Ala)
c.2030G>C (p.Gly677Ala)
c.284G>C (p.Gly95Ala)
c.116G>C (p.Gly39Ala)
c.4040G>C (p.Gly1347Ala)
c.3677G>C (p.Gly1226Ala)
c.3638G>C (p.Gly1213Ala)
c.2207G>C (p.Gly736Ala)
6g.72333635G=CA1637650216RIMS1c.3635G= (p.Gly1212=)
c.4166G= (p.Gly1389=)
c.3713G= (p.Gly1238=)
c.1310G= (p.Gly437=)
c.2126G= (p.Gly709=)
c.1570+41589G= (n.1570+41589G=)
c.1661G= (p.Gly554=)
n.254+41589G=
c.2202G=
c.1768+41589G= (n.1768+41589G=)
c.3515G= (p.Gly1172=)
c.3403+41589G= (n.3403+41589G=)
c.3316+41589G= (n.3316+41589G=)
c.919G=
c.3163+41589G= (n.3163+41589G=)
c.1741+41589G= (n.1741+41589G=)
c.2339G= (p.Gly780=)
c.2186G= (p.Gly729=)
c.2123G= (p.Gly708=)
c.4112G= (p.Gly1371=)
c.2084G= (p.Gly695=)
c.2066G= (p.Gly689=)
c.2003G= (p.Gly668=)
c.1934G= (p.Gly645=)
c.1931G= (p.Gly644=)
c.1898G= (p.Gly633=)
c.1810+41589G= (n.1810+41589G=)
c.1738+41589G= (n.1738+41589G=)
c.1735+41589G= (n.1735+41589G=)
c.1720+41589G= (n.1720+41589G=)
c.1582+41589G= (n.1582+41589G=)
c.458G= (p.Gly153=)
c.2087G= (p.Gly696=)
c.2183G= (p.Gly728=)
c.2132G= (p.Gly711=)
c.1813+41589G= (n.1813+41589G=)
c.2105G= (p.Gly702=)
c.1585+41589G= (n.1585+41589G=)
c.2240G= (p.Gly747=)
c.1985G= (p.Gly662=)
c.1874G= (p.Gly625=)
c.1672+41589G= (n.1672+41589G=)
c.1660+41589G= (n.1660+41589G=)
c.1744+41589G= (n.1744+41589G=)
c.1904G= (p.Gly635=)
c.2222G= (p.Gly741=)
c.1648+41589G= (n.1648+41589G=)
c.2213G= (p.Gly738=)
c.1888+41589G= (n.1888+41589G=)
c.2075G= (p.Gly692=)
c.2318G= (p.Gly773=)
c.2069G= (p.Gly690=)
c.1993+41589G= (n.1993+41589G=)
c.2057G= (p.Gly686=)
c.1657+41589G= (n.1657+41589G=)
c.2054G= (p.Gly685=)
c.1996+41589G= (n.1996+41589G=)
c.2027G= (p.Gly676=)
c.1901G= (p.Gly634=)
c.1894+41589G= (n.1894+41589G=)
c.2312G= (p.Gly771=)
c.1973G= (p.Gly658=)
c.2129G= (p.Gly710=)
c.1669+41589G= (n.1669+41589G=)
c.2036G= (p.Gly679=)
c.1588+41589G= (n.1588+41589G=)
c.2309G= (p.Gly770=)
c.2135G= (p.Gly712=)
c.1988G= (p.Gly663=)
c.2006G= (p.Gly669=)
c.1856G= (p.Gly619=)
c.2171G= (p.Gly724=)
c.1811G= (p.Gly604=)
c.1814G= (p.Gly605=)
c.1498+41589G= (n.1498+41589G=)
c.1817G= (p.Gly606=)
c.1733G= (p.Gly578=)
c.1658G= (p.Gly553=)
c.1886G= (p.Gly629=)
c.1774+41589G= (n.1774+41589G=)
c.1967G= (p.Gly656=)
c.1693+41589G= (n.1693+41589G=)
c.1696+41589G= (n.1696+41589G=)
c.1859G= (p.Gly620=)
c.3704G= (p.Gly1235=)
c.3953G= (p.Gly1318=)
c.3860G= (p.Gly1287=)
c.3857G= (p.Gly1286=)
c.3800G= (p.Gly1267=)
c.3788G= (p.Gly1263=)
c.3770G= (p.Gly1257=)
c.3707G= (p.Gly1236=)
c.3680G= (p.Gly1227=)
c.3662G= (p.Gly1221=)
c.3647G= (p.Gly1216=)
c.3632G= (p.Gly1211=)
c.2210G= (p.Gly737=)
c.2030G= (p.Gly677=)
c.284G= (p.Gly95=)
c.116G= (p.Gly39=)
c.4040G= (p.Gly1347=)
c.3677G= (p.Gly1226=)
c.3638G= (p.Gly1213=)
c.2207G= (p.Gly736=)
6g.72333635G>TCA364692712RIMS1c.3635G>T (p.Gly1212Val)
c.4166G>T (p.Gly1389Val)
c.3713G>T (p.Gly1238Val)
c.1310G>T (p.Gly437Val)
c.2126G>T (p.Gly709Val)
c.1570+41589G>T (n.1570+41589G>T)
c.1661G>T (p.Gly554Val)
n.254+41589G>T
c.2202G>T
c.1768+41589G>T (n.1768+41589G>T)
c.3515G>T (p.Gly1172Val)
c.3403+41589G>T (n.3403+41589G>T)
c.3316+41589G>T (n.3316+41589G>T)
c.919G>T
c.3163+41589G>T (n.3163+41589G>T)
c.1741+41589G>T (n.1741+41589G>T)
c.2339G>T (p.Gly780Val)
c.2186G>T (p.Gly729Val)
c.2123G>T (p.Gly708Val)
c.4112G>T (p.Gly1371Val)
c.2084G>T (p.Gly695Val)
c.2066G>T (p.Gly689Val)
c.2003G>T (p.Gly668Val)
c.1934G>T (p.Gly645Val)
c.1931G>T (p.Gly644Val)
c.1898G>T (p.Gly633Val)
c.1810+41589G>T (n.1810+41589G>T)
c.1738+41589G>T (n.1738+41589G>T)
c.1735+41589G>T (n.1735+41589G>T)
c.1720+41589G>T (n.1720+41589G>T)
c.1582+41589G>T (n.1582+41589G>T)
c.458G>T (p.Gly153Val)
c.2087G>T (p.Gly696Val)
c.2183G>T (p.Gly728Val)
c.2132G>T (p.Gly711Val)
c.1813+41589G>T (n.1813+41589G>T)
c.2105G>T (p.Gly702Val)
c.1585+41589G>T (n.1585+41589G>T)
c.2240G>T (p.Gly747Val)
c.1985G>T (p.Gly662Val)
c.1874G>T (p.Gly625Val)
c.1672+41589G>T (n.1672+41589G>T)
c.1660+41589G>T (n.1660+41589G>T)
c.1744+41589G>T (n.1744+41589G>T)
c.1904G>T (p.Gly635Val)
c.2222G>T (p.Gly741Val)
c.1648+41589G>T (n.1648+41589G>T)
c.2213G>T (p.Gly738Val)
c.1888+41589G>T (n.1888+41589G>T)
c.2075G>T (p.Gly692Val)
c.2318G>T (p.Gly773Val)
c.2069G>T (p.Gly690Val)
c.1993+41589G>T (n.1993+41589G>T)
c.2057G>T (p.Gly686Val)
c.1657+41589G>T (n.1657+41589G>T)
c.2054G>T (p.Gly685Val)
c.1996+41589G>T (n.1996+41589G>T)
c.2027G>T (p.Gly676Val)
c.1901G>T (p.Gly634Val)
c.1894+41589G>T (n.1894+41589G>T)
c.2312G>T (p.Gly771Val)
c.1973G>T (p.Gly658Val)
c.2129G>T (p.Gly710Val)
c.1669+41589G>T (n.1669+41589G>T)
c.2036G>T (p.Gly679Val)
c.1588+41589G>T (n.1588+41589G>T)
c.2309G>T (p.Gly770Val)
c.2135G>T (p.Gly712Val)
c.1988G>T (p.Gly663Val)
c.2006G>T (p.Gly669Val)
c.1856G>T (p.Gly619Val)
c.2171G>T (p.Gly724Val)
c.1811G>T (p.Gly604Val)
c.1814G>T (p.Gly605Val)
c.1498+41589G>T (n.1498+41589G>T)
c.1817G>T (p.Gly606Val)
c.1733G>T (p.Gly578Val)
c.1658G>T (p.Gly553Val)
c.1886G>T (p.Gly629Val)
c.1774+41589G>T (n.1774+41589G>T)
c.1967G>T (p.Gly656Val)
c.1693+41589G>T (n.1693+41589G>T)
c.1696+41589G>T (n.1696+41589G>T)
c.1859G>T (p.Gly620Val)
c.3704G>T (p.Gly1235Val)
c.3953G>T (p.Gly1318Val)
c.3860G>T (p.Gly1287Val)
c.3857G>T (p.Gly1286Val)
c.3800G>T (p.Gly1267Val)
c.3788G>T (p.Gly1263Val)
c.3770G>T (p.Gly1257Val)
c.3707G>T (p.Gly1236Val)
c.3680G>T (p.Gly1227Val)
c.3662G>T (p.Gly1221Val)
c.3647G>T (p.Gly1216Val)
c.3632G>T (p.Gly1211Val)
c.2210G>T (p.Gly737Val)
c.2030G>T (p.Gly677Val)
c.284G>T (p.Gly95Val)
c.116G>T (p.Gly39Val)
c.4040G>T (p.Gly1347Val)
c.3677G>T (p.Gly1226Val)
c.3638G>T (p.Gly1213Val)
c.2207G>T (p.Gly736Val)
 gnomAD v4
6g.72333636G>ACA450885908RIMS1c.3636G>A (p.Gly1212=)
c.4167G>A (p.Gly1389=)
c.3714G>A (p.Gly1238=)
c.1311G>A (p.Gly437=)
c.2127G>A (p.Gly709=)
c.1570+41590G>A (n.1570+41590G>A)
c.1662G>A (p.Gly554=)
n.254+41590G>A
c.2203G>A
c.1768+41590G>A (n.1768+41590G>A)
c.3516G>A (p.Gly1172=)
c.3403+41590G>A (n.3403+41590G>A)
c.3316+41590G>A (n.3316+41590G>A)
c.920G>A
c.3163+41590G>A (n.3163+41590G>A)
c.1741+41590G>A (n.1741+41590G>A)
c.2340G>A (p.Gly780=)
c.2187G>A (p.Gly729=)
c.2124G>A (p.Gly708=)
c.4113G>A (p.Gly1371=)
c.2085G>A (p.Gly695=)
c.2067G>A (p.Gly689=)
c.2004G>A (p.Gly668=)
c.1935G>A (p.Gly645=)
c.1932G>A (p.Gly644=)
c.1899G>A (p.Gly633=)
c.1810+41590G>A (n.1810+41590G>A)
c.1738+41590G>A (n.1738+41590G>A)
c.1735+41590G>A (n.1735+41590G>A)
c.1720+41590G>A (n.1720+41590G>A)
c.1582+41590G>A (n.1582+41590G>A)
c.459G>A (p.Gly153=)
c.2088G>A (p.Gly696=)
c.2184G>A (p.Gly728=)
c.2133G>A (p.Gly711=)
c.1813+41590G>A (n.1813+41590G>A)
c.2106G>A (p.Gly702=)
c.1585+41590G>A (n.1585+41590G>A)
c.2241G>A (p.Gly747=)
c.1986G>A (p.Gly662=)
c.1875G>A (p.Gly625=)
c.1672+41590G>A (n.1672+41590G>A)
c.1660+41590G>A (n.1660+41590G>A)
c.1744+41590G>A (n.1744+41590G>A)
c.1905G>A (p.Gly635=)
c.2223G>A (p.Gly741=)
c.1648+41590G>A (n.1648+41590G>A)
c.2214G>A (p.Gly738=)
c.1888+41590G>A (n.1888+41590G>A)
c.2076G>A (p.Gly692=)
c.2319G>A (p.Gly773=)
c.2070G>A (p.Gly690=)
c.1993+41590G>A (n.1993+41590G>A)
c.2058G>A (p.Gly686=)
c.1657+41590G>A (n.1657+41590G>A)
c.2055G>A (p.Gly685=)
c.1996+41590G>A (n.1996+41590G>A)
c.2028G>A (p.Gly676=)
c.1902G>A (p.Gly634=)
c.1894+41590G>A (n.1894+41590G>A)
c.2313G>A (p.Gly771=)
c.1974G>A (p.Gly658=)
c.2130G>A (p.Gly710=)
c.1669+41590G>A (n.1669+41590G>A)
c.2037G>A (p.Gly679=)
c.1588+41590G>A (n.1588+41590G>A)
c.2310G>A (p.Gly770=)
c.2136G>A (p.Gly712=)
c.1989G>A (p.Gly663=)
c.2007G>A (p.Gly669=)
c.1857G>A (p.Gly619=)
c.2172G>A (p.Gly724=)
c.1812G>A (p.Gly604=)
c.1815G>A (p.Gly605=)
c.1498+41590G>A (n.1498+41590G>A)
c.1818G>A (p.Gly606=)
c.1734G>A (p.Gly578=)
c.1659G>A (p.Gly553=)
c.1887G>A (p.Gly629=)
c.1774+41590G>A (n.1774+41590G>A)
c.1968G>A (p.Gly656=)
c.1693+41590G>A (n.1693+41590G>A)
c.1696+41590G>A (n.1696+41590G>A)
c.1860G>A (p.Gly620=)
c.3705G>A (p.Gly1235=)
c.3954G>A (p.Gly1318=)
c.3861G>A (p.Gly1287=)
c.3858G>A (p.Gly1286=)
c.3801G>A (p.Gly1267=)
c.3789G>A (p.Gly1263=)
c.3771G>A (p.Gly1257=)
c.3708G>A (p.Gly1236=)
c.3681G>A (p.Gly1227=)
c.3663G>A (p.Gly1221=)
c.3648G>A (p.Gly1216=)
c.3633G>A (p.Gly1211=)
c.2211G>A (p.Gly737=)
c.2031G>A (p.Gly677=)
c.285G>A (p.Gly95=)
c.117G>A (p.Gly39=)
c.4041G>A (p.Gly1347=)
c.3678G>A (p.Gly1226=)
c.3639G>A (p.Gly1213=)
c.2208G>A (p.Gly736=)
 gnomAD v4
6g.72333636G>CCA450885909RIMS1c.3636G>C (p.Gly1212=)
c.4167G>C (p.Gly1389=)
c.3714G>C (p.Gly1238=)
c.1311G>C (p.Gly437=)
c.2127G>C (p.Gly709=)
c.1570+41590G>C (n.1570+41590G>C)
c.1662G>C (p.Gly554=)
n.254+41590G>C
c.2203G>C
c.1768+41590G>C (n.1768+41590G>C)
c.3516G>C (p.Gly1172=)
c.3403+41590G>C (n.3403+41590G>C)
c.3316+41590G>C (n.3316+41590G>C)
c.920G>C
c.3163+41590G>C (n.3163+41590G>C)
c.1741+41590G>C (n.1741+41590G>C)
c.2340G>C (p.Gly780=)
c.2187G>C (p.Gly729=)
c.2124G>C (p.Gly708=)
c.4113G>C (p.Gly1371=)
c.2085G>C (p.Gly695=)
c.2067G>C (p.Gly689=)
c.2004G>C (p.Gly668=)
c.1935G>C (p.Gly645=)
c.1932G>C (p.Gly644=)
c.1899G>C (p.Gly633=)
c.1810+41590G>C (n.1810+41590G>C)
c.1738+41590G>C (n.1738+41590G>C)
c.1735+41590G>C (n.1735+41590G>C)
c.1720+41590G>C (n.1720+41590G>C)
c.1582+41590G>C (n.1582+41590G>C)
c.459G>C (p.Gly153=)
c.2088G>C (p.Gly696=)
c.2184G>C (p.Gly728=)
c.2133G>C (p.Gly711=)
c.1813+41590G>C (n.1813+41590G>C)
c.2106G>C (p.Gly702=)
c.1585+41590G>C (n.1585+41590G>C)
c.2241G>C (p.Gly747=)
c.1986G>C (p.Gly662=)
c.1875G>C (p.Gly625=)
c.1672+41590G>C (n.1672+41590G>C)
c.1660+41590G>C (n.1660+41590G>C)
c.1744+41590G>C (n.1744+41590G>C)
c.1905G>C (p.Gly635=)
c.2223G>C (p.Gly741=)
c.1648+41590G>C (n.1648+41590G>C)
c.2214G>C (p.Gly738=)
c.1888+41590G>C (n.1888+41590G>C)
c.2076G>C (p.Gly692=)
c.2319G>C (p.Gly773=)
c.2070G>C (p.Gly690=)
c.1993+41590G>C (n.1993+41590G>C)
c.2058G>C (p.Gly686=)
c.1657+41590G>C (n.1657+41590G>C)
c.2055G>C (p.Gly685=)
c.1996+41590G>C (n.1996+41590G>C)
c.2028G>C (p.Gly676=)
c.1902G>C (p.Gly634=)
c.1894+41590G>C (n.1894+41590G>C)
c.2313G>C (p.Gly771=)
c.1974G>C (p.Gly658=)
c.2130G>C (p.Gly710=)
c.1669+41590G>C (n.1669+41590G>C)
c.2037G>C (p.Gly679=)
c.1588+41590G>C (n.1588+41590G>C)
c.2310G>C (p.Gly770=)
c.2136G>C (p.Gly712=)
c.1989G>C (p.Gly663=)
c.2007G>C (p.Gly669=)
c.1857G>C (p.Gly619=)
c.2172G>C (p.Gly724=)
c.1812G>C (p.Gly604=)
c.1815G>C (p.Gly605=)
c.1498+41590G>C (n.1498+41590G>C)
c.1818G>C (p.Gly606=)
c.1734G>C (p.Gly578=)
c.1659G>C (p.Gly553=)
c.1887G>C (p.Gly629=)
c.1774+41590G>C (n.1774+41590G>C)
c.1968G>C (p.Gly656=)
c.1693+41590G>C (n.1693+41590G>C)
c.1696+41590G>C (n.1696+41590G>C)
c.1860G>C (p.Gly620=)
c.3705G>C (p.Gly1235=)
c.3954G>C (p.Gly1318=)
c.3861G>C (p.Gly1287=)
c.3858G>C (p.Gly1286=)
c.3801G>C (p.Gly1267=)
c.3789G>C (p.Gly1263=)
c.3771G>C (p.Gly1257=)
c.3708G>C (p.Gly1236=)
c.3681G>C (p.Gly1227=)
c.3663G>C (p.Gly1221=)
c.3648G>C (p.Gly1216=)
c.3633G>C (p.Gly1211=)
c.2211G>C (p.Gly737=)
c.2031G>C (p.Gly677=)
c.285G>C (p.Gly95=)
c.117G>C (p.Gly39=)
c.4041G>C (p.Gly1347=)
c.3678G>C (p.Gly1226=)
c.3639G>C (p.Gly1213=)
c.2208G>C (p.Gly736=)
6g.72333636G>TCA450885910RIMS1c.3636G>T (p.Gly1212=)
c.4167G>T (p.Gly1389=)
c.3714G>T (p.Gly1238=)
c.1311G>T (p.Gly437=)
c.2127G>T (p.Gly709=)
c.1570+41590G>T (n.1570+41590G>T)
c.1662G>T (p.Gly554=)
n.254+41590G>T
c.2203G>T
c.1768+41590G>T (n.1768+41590G>T)
c.3516G>T (p.Gly1172=)
c.3403+41590G>T (n.3403+41590G>T)
c.3316+41590G>T (n.3316+41590G>T)
c.920G>T
c.3163+41590G>T (n.3163+41590G>T)
c.1741+41590G>T (n.1741+41590G>T)
c.2340G>T (p.Gly780=)
c.2187G>T (p.Gly729=)
c.2124G>T (p.Gly708=)
c.4113G>T (p.Gly1371=)
c.2085G>T (p.Gly695=)
c.2067G>T (p.Gly689=)
c.2004G>T (p.Gly668=)
c.1935G>T (p.Gly645=)
c.1932G>T (p.Gly644=)
c.1899G>T (p.Gly633=)
c.1810+41590G>T (n.1810+41590G>T)
c.1738+41590G>T (n.1738+41590G>T)
c.1735+41590G>T (n.1735+41590G>T)
c.1720+41590G>T (n.1720+41590G>T)
c.1582+41590G>T (n.1582+41590G>T)
c.459G>T (p.Gly153=)
c.2088G>T (p.Gly696=)
c.2184G>T (p.Gly728=)
c.2133G>T (p.Gly711=)
c.1813+41590G>T (n.1813+41590G>T)
c.2106G>T (p.Gly702=)
c.1585+41590G>T (n.1585+41590G>T)
c.2241G>T (p.Gly747=)
c.1986G>T (p.Gly662=)
c.1875G>T (p.Gly625=)
c.1672+41590G>T (n.1672+41590G>T)
c.1660+41590G>T (n.1660+41590G>T)
c.1744+41590G>T (n.1744+41590G>T)
c.1905G>T (p.Gly635=)
c.2223G>T (p.Gly741=)
c.1648+41590G>T (n.1648+41590G>T)
c.2214G>T (p.Gly738=)
c.1888+41590G>T (n.1888+41590G>T)
c.2076G>T (p.Gly692=)
c.2319G>T (p.Gly773=)
c.2070G>T (p.Gly690=)
c.1993+41590G>T (n.1993+41590G>T)
c.2058G>T (p.Gly686=)
c.1657+41590G>T (n.1657+41590G>T)
c.2055G>T (p.Gly685=)
c.1996+41590G>T (n.1996+41590G>T)
c.2028G>T (p.Gly676=)
c.1902G>T (p.Gly634=)
c.1894+41590G>T (n.1894+41590G>T)
c.2313G>T (p.Gly771=)
c.1974G>T (p.Gly658=)
c.2130G>T (p.Gly710=)
c.1669+41590G>T (n.1669+41590G>T)
c.2037G>T (p.Gly679=)
c.1588+41590G>T (n.1588+41590G>T)
c.2310G>T (p.Gly770=)
c.2136G>T (p.Gly712=)
c.1989G>T (p.Gly663=)
c.2007G>T (p.Gly669=)
c.1857G>T (p.Gly619=)
c.2172G>T (p.Gly724=)
c.1812G>T (p.Gly604=)
c.1815G>T (p.Gly605=)
c.1498+41590G>T (n.1498+41590G>T)
c.1818G>T (p.Gly606=)
c.1734G>T (p.Gly578=)
c.1659G>T (p.Gly553=)
c.1887G>T (p.Gly629=)
c.1774+41590G>T (n.1774+41590G>T)
c.1968G>T (p.Gly656=)
c.1693+41590G>T (n.1693+41590G>T)
c.1696+41590G>T (n.1696+41590G>T)
c.1860G>T (p.Gly620=)
c.3705G>T (p.Gly1235=)
c.3954G>T (p.Gly1318=)
c.3861G>T (p.Gly1287=)
c.3858G>T (p.Gly1286=)
c.3801G>T (p.Gly1267=)
c.3789G>T (p.Gly1263=)
c.3771G>T (p.Gly1257=)
c.3708G>T (p.Gly1236=)
c.3681G>T (p.Gly1227=)
c.3663G>T (p.Gly1221=)
c.3648G>T (p.Gly1216=)
c.3633G>T (p.Gly1211=)
c.2211G>T (p.Gly737=)
c.2031G>T (p.Gly677=)
c.285G>T (p.Gly95=)
c.117G>T (p.Gly39=)
c.4041G>T (p.Gly1347=)
c.3678G>T (p.Gly1226=)
c.3639G>T (p.Gly1213=)
c.2208G>T (p.Gly736=)
 gnomAD v4
6g.72333637A>CCA364692713RIMS1c.3637A>C (p.Thr1213Pro)
c.4168A>C (p.Thr1390Pro)
c.3715A>C (p.Thr1239Pro)
c.1312A>C (p.Thr438Pro)
c.2128A>C (p.Thr710Pro)
c.1570+41591A>C (n.1570+41591A>C)
c.1663A>C (p.Thr555Pro)
n.254+41591A>C
c.2204A>C
c.1768+41591A>C (n.1768+41591A>C)
c.3517A>C (p.Thr1173Pro)
c.3403+41591A>C (n.3403+41591A>C)
c.3316+41591A>C (n.3316+41591A>C)
c.921A>C
c.3163+41591A>C (n.3163+41591A>C)
c.1741+41591A>C (n.1741+41591A>C)
c.2341A>C (p.Thr781Pro)
c.2188A>C (p.Thr730Pro)
c.2125A>C (p.Thr709Pro)
c.4114A>C (p.Thr1372Pro)
c.2086A>C (p.Thr696Pro)
c.2068A>C (p.Thr690Pro)
c.2005A>C (p.Thr669Pro)
c.1936A>C (p.Thr646Pro)
c.1933A>C (p.Thr645Pro)
c.1900A>C (p.Thr634Pro)
c.1810+41591A>C (n.1810+41591A>C)
c.1738+41591A>C (n.1738+41591A>C)
c.1735+41591A>C (n.1735+41591A>C)
c.1720+41591A>C (n.1720+41591A>C)
c.1582+41591A>C (n.1582+41591A>C)
c.460A>C (p.Thr154Pro)
c.2089A>C (p.Thr697Pro)
c.2185A>C (p.Thr729Pro)
c.2134A>C (p.Thr712Pro)
c.1813+41591A>C (n.1813+41591A>C)
c.2107A>C (p.Thr703Pro)
c.1585+41591A>C (n.1585+41591A>C)
c.2242A>C (p.Thr748Pro)
c.1987A>C (p.Thr663Pro)
c.1876A>C (p.Thr626Pro)
c.1672+41591A>C (n.1672+41591A>C)
c.1660+41591A>C (n.1660+41591A>C)
c.1744+41591A>C (n.1744+41591A>C)
c.1906A>C (p.Thr636Pro)
c.2224A>C (p.Thr742Pro)
c.1648+41591A>C (n.1648+41591A>C)
c.2215A>C (p.Thr739Pro)
c.1888+41591A>C (n.1888+41591A>C)
c.2077A>C (p.Thr693Pro)
c.2320A>C (p.Thr774Pro)
c.2071A>C (p.Thr691Pro)
c.1993+41591A>C (n.1993+41591A>C)
c.2059A>C (p.Thr687Pro)
c.1657+41591A>C (n.1657+41591A>C)
c.2056A>C (p.Thr686Pro)
c.1996+41591A>C (n.1996+41591A>C)
c.2029A>C (p.Thr677Pro)
c.1903A>C (p.Thr635Pro)
c.1894+41591A>C (n.1894+41591A>C)
c.2314A>C (p.Thr772Pro)
c.1975A>C (p.Thr659Pro)
c.2131A>C (p.Thr711Pro)
c.1669+41591A>C (n.1669+41591A>C)
c.2038A>C (p.Thr680Pro)
c.1588+41591A>C (n.1588+41591A>C)
c.2311A>C (p.Thr771Pro)
c.2137A>C (p.Thr713Pro)
c.1990A>C (p.Thr664Pro)
c.2008A>C (p.Thr670Pro)
c.1858A>C (p.Thr620Pro)
c.2173A>C (p.Thr725Pro)
c.1813A>C (p.Thr605Pro)
c.1816A>C (p.Thr606Pro)
c.1498+41591A>C (n.1498+41591A>C)
c.1819A>C (p.Thr607Pro)
c.1735A>C (p.Thr579Pro)
c.1660A>C (p.Thr554Pro)
c.1888A>C (p.Thr630Pro)
c.1774+41591A>C (n.1774+41591A>C)
c.1969A>C (p.Thr657Pro)
c.1693+41591A>C (n.1693+41591A>C)
c.1696+41591A>C (n.1696+41591A>C)
c.1861A>C (p.Thr621Pro)
c.3706A>C (p.Thr1236Pro)
c.3955A>C (p.Thr1319Pro)
c.3862A>C (p.Thr1288Pro)
c.3859A>C (p.Thr1287Pro)
c.3802A>C (p.Thr1268Pro)
c.3790A>C (p.Thr1264Pro)
c.3772A>C (p.Thr1258Pro)
c.3709A>C (p.Thr1237Pro)
c.3682A>C (p.Thr1228Pro)
c.3664A>C (p.Thr1222Pro)
c.3649A>C (p.Thr1217Pro)
c.3634A>C (p.Thr1212Pro)
c.2212A>C (p.Thr738Pro)
c.2032A>C (p.Thr678Pro)
c.286A>C (p.Thr96Pro)
c.118A>C (p.Thr40Pro)
c.4042A>C (p.Thr1348Pro)
c.3679A>C (p.Thr1227Pro)
c.3640A>C (p.Thr1214Pro)
c.2209A>C (p.Thr737Pro)
6g.72333637A>GCA364692714RIMS1c.3637A>G (p.Thr1213Ala)
c.4168A>G (p.Thr1390Ala)
c.3715A>G (p.Thr1239Ala)
c.1312A>G (p.Thr438Ala)
c.2128A>G (p.Thr710Ala)
c.1570+41591A>G (n.1570+41591A>G)
c.1663A>G (p.Thr555Ala)
n.254+41591A>G
c.2204A>G
c.1768+41591A>G (n.1768+41591A>G)
c.3517A>G (p.Thr1173Ala)
c.3403+41591A>G (n.3403+41591A>G)
c.3316+41591A>G (n.3316+41591A>G)
c.921A>G
c.3163+41591A>G (n.3163+41591A>G)
c.1741+41591A>G (n.1741+41591A>G)
c.2341A>G (p.Thr781Ala)
c.2188A>G (p.Thr730Ala)
c.2125A>G (p.Thr709Ala)
c.4114A>G (p.Thr1372Ala)
c.2086A>G (p.Thr696Ala)
c.2068A>G (p.Thr690Ala)
c.2005A>G (p.Thr669Ala)
c.1936A>G (p.Thr646Ala)
c.1933A>G (p.Thr645Ala)
c.1900A>G (p.Thr634Ala)
c.1810+41591A>G (n.1810+41591A>G)
c.1738+41591A>G (n.1738+41591A>G)
c.1735+41591A>G (n.1735+41591A>G)
c.1720+41591A>G (n.1720+41591A>G)
c.1582+41591A>G (n.1582+41591A>G)
c.460A>G (p.Thr154Ala)
c.2089A>G (p.Thr697Ala)
c.2185A>G (p.Thr729Ala)
c.2134A>G (p.Thr712Ala)
c.1813+41591A>G (n.1813+41591A>G)
c.2107A>G (p.Thr703Ala)
c.1585+41591A>G (n.1585+41591A>G)
c.2242A>G (p.Thr748Ala)
c.1987A>G (p.Thr663Ala)
c.1876A>G (p.Thr626Ala)
c.1672+41591A>G (n.1672+41591A>G)
c.1660+41591A>G (n.1660+41591A>G)
c.1744+41591A>G (n.1744+41591A>G)
c.1906A>G (p.Thr636Ala)
c.2224A>G (p.Thr742Ala)
c.1648+41591A>G (n.1648+41591A>G)
c.2215A>G (p.Thr739Ala)
c.1888+41591A>G (n.1888+41591A>G)
c.2077A>G (p.Thr693Ala)
c.2320A>G (p.Thr774Ala)
c.2071A>G (p.Thr691Ala)
c.1993+41591A>G (n.1993+41591A>G)
c.2059A>G (p.Thr687Ala)
c.1657+41591A>G (n.1657+41591A>G)
c.2056A>G (p.Thr686Ala)
c.1996+41591A>G (n.1996+41591A>G)
c.2029A>G (p.Thr677Ala)
c.1903A>G (p.Thr635Ala)
c.1894+41591A>G (n.1894+41591A>G)
c.2314A>G (p.Thr772Ala)
c.1975A>G (p.Thr659Ala)
c.2131A>G (p.Thr711Ala)
c.1669+41591A>G (n.1669+41591A>G)
c.2038A>G (p.Thr680Ala)
c.1588+41591A>G (n.1588+41591A>G)
c.2311A>G (p.Thr771Ala)
c.2137A>G (p.Thr713Ala)
c.1990A>G (p.Thr664Ala)
c.2008A>G (p.Thr670Ala)
c.1858A>G (p.Thr620Ala)
c.2173A>G (p.Thr725Ala)
c.1813A>G (p.Thr605Ala)
c.1816A>G (p.Thr606Ala)
c.1498+41591A>G (n.1498+41591A>G)
c.1819A>G (p.Thr607Ala)
c.1735A>G (p.Thr579Ala)
c.1660A>G (p.Thr554Ala)
c.1888A>G (p.Thr630Ala)
c.1774+41591A>G (n.1774+41591A>G)
c.1969A>G (p.Thr657Ala)
c.1693+41591A>G (n.1693+41591A>G)
c.1696+41591A>G (n.1696+41591A>G)
c.1861A>G (p.Thr621Ala)
c.3706A>G (p.Thr1236Ala)
c.3955A>G (p.Thr1319Ala)
c.3862A>G (p.Thr1288Ala)
c.3859A>G (p.Thr1287Ala)
c.3802A>G (p.Thr1268Ala)
c.3790A>G (p.Thr1264Ala)
c.3772A>G (p.Thr1258Ala)
c.3709A>G (p.Thr1237Ala)
c.3682A>G (p.Thr1228Ala)
c.3664A>G (p.Thr1222Ala)
c.3649A>G (p.Thr1217Ala)
c.3634A>G (p.Thr1212Ala)
c.2212A>G (p.Thr738Ala)
c.2032A>G (p.Thr678Ala)
c.286A>G (p.Thr96Ala)
c.118A>G (p.Thr40Ala)
c.4042A>G (p.Thr1348Ala)
c.3679A>G (p.Thr1227Ala)
c.3640A>G (p.Thr1214Ala)
c.2209A>G (p.Thr737Ala)
6g.72333637A>TCA364692715RIMS1c.3637A>T (p.Thr1213Ser)
c.4168A>T (p.Thr1390Ser)
c.3715A>T (p.Thr1239Ser)
c.1312A>T (p.Thr438Ser)
c.2128A>T (p.Thr710Ser)
c.1570+41591A>T (n.1570+41591A>T)
c.1663A>T (p.Thr555Ser)
n.254+41591A>T
c.2204A>T
c.1768+41591A>T (n.1768+41591A>T)
c.3517A>T (p.Thr1173Ser)
c.3403+41591A>T (n.3403+41591A>T)
c.3316+41591A>T (n.3316+41591A>T)
c.921A>T
c.3163+41591A>T (n.3163+41591A>T)
c.1741+41591A>T (n.1741+41591A>T)
c.2341A>T (p.Thr781Ser)
c.2188A>T (p.Thr730Ser)
c.2125A>T (p.Thr709Ser)
c.4114A>T (p.Thr1372Ser)
c.2086A>T (p.Thr696Ser)
c.2068A>T (p.Thr690Ser)
c.2005A>T (p.Thr669Ser)
c.1936A>T (p.Thr646Ser)
c.1933A>T (p.Thr645Ser)
c.1900A>T (p.Thr634Ser)
c.1810+41591A>T (n.1810+41591A>T)
c.1738+41591A>T (n.1738+41591A>T)
c.1735+41591A>T (n.1735+41591A>T)
c.1720+41591A>T (n.1720+41591A>T)
c.1582+41591A>T (n.1582+41591A>T)
c.460A>T (p.Thr154Ser)
c.2089A>T (p.Thr697Ser)
c.2185A>T (p.Thr729Ser)
c.2134A>T (p.Thr712Ser)
c.1813+41591A>T (n.1813+41591A>T)
c.2107A>T (p.Thr703Ser)
c.1585+41591A>T (n.1585+41591A>T)
c.2242A>T (p.Thr748Ser)
c.1987A>T (p.Thr663Ser)
c.1876A>T (p.Thr626Ser)
c.1672+41591A>T (n.1672+41591A>T)
c.1660+41591A>T (n.1660+41591A>T)
c.1744+41591A>T (n.1744+41591A>T)
c.1906A>T (p.Thr636Ser)
c.2224A>T (p.Thr742Ser)
c.1648+41591A>T (n.1648+41591A>T)
c.2215A>T (p.Thr739Ser)
c.1888+41591A>T (n.1888+41591A>T)
c.2077A>T (p.Thr693Ser)
c.2320A>T (p.Thr774Ser)
c.2071A>T (p.Thr691Ser)
c.1993+41591A>T (n.1993+41591A>T)
c.2059A>T (p.Thr687Ser)
c.1657+41591A>T (n.1657+41591A>T)
c.2056A>T (p.Thr686Ser)
c.1996+41591A>T (n.1996+41591A>T)
c.2029A>T (p.Thr677Ser)
c.1903A>T (p.Thr635Ser)
c.1894+41591A>T (n.1894+41591A>T)
c.2314A>T (p.Thr772Ser)
c.1975A>T (p.Thr659Ser)
c.2131A>T (p.Thr711Ser)
c.1669+41591A>T (n.1669+41591A>T)
c.2038A>T (p.Thr680Ser)
c.1588+41591A>T (n.1588+41591A>T)
c.2311A>T (p.Thr771Ser)
c.2137A>T (p.Thr713Ser)
c.1990A>T (p.Thr664Ser)
c.2008A>T (p.Thr670Ser)
c.1858A>T (p.Thr620Ser)
c.2173A>T (p.Thr725Ser)
c.1813A>T (p.Thr605Ser)
c.1816A>T (p.Thr606Ser)
c.1498+41591A>T (n.1498+41591A>T)
c.1819A>T (p.Thr607Ser)
c.1735A>T (p.Thr579Ser)
c.1660A>T (p.Thr554Ser)
c.1888A>T (p.Thr630Ser)
c.1774+41591A>T (n.1774+41591A>T)
c.1969A>T (p.Thr657Ser)
c.1693+41591A>T (n.1693+41591A>T)
c.1696+41591A>T (n.1696+41591A>T)
c.1861A>T (p.Thr621Ser)
c.3706A>T (p.Thr1236Ser)
c.3955A>T (p.Thr1319Ser)
c.3862A>T (p.Thr1288Ser)
c.3859A>T (p.Thr1287Ser)
c.3802A>T (p.Thr1268Ser)
c.3790A>T (p.Thr1264Ser)
c.3772A>T (p.Thr1258Ser)
c.3709A>T (p.Thr1237Ser)
c.3682A>T (p.Thr1228Ser)
c.3664A>T (p.Thr1222Ser)
c.3649A>T (p.Thr1217Ser)
c.3634A>T (p.Thr1212Ser)
c.2212A>T (p.Thr738Ser)
c.2032A>T (p.Thr678Ser)
c.286A>T (p.Thr96Ser)
c.118A>T (p.Thr40Ser)
c.4042A>T (p.Thr1348Ser)
c.3679A>T (p.Thr1227Ser)
c.3640A>T (p.Thr1214Ser)
c.2209A>T (p.Thr737Ser)
6g.72333638C>ACA364692716RIMS1c.3638C>A (p.Thr1213Asn)
c.4169C>A (p.Thr1390Asn)
c.3716C>A (p.Thr1239Asn)
c.1313C>A (p.Thr438Asn)
c.2129C>A (p.Thr710Asn)
c.1570+41592C>A (n.1570+41592C>A)
c.1664C>A (p.Thr555Asn)
n.254+41592C>A
c.2205C>A
c.1768+41592C>A (n.1768+41592C>A)
c.3518C>A (p.Thr1173Asn)
c.3403+41592C>A (n.3403+41592C>A)
c.3316+41592C>A (n.3316+41592C>A)
c.922C>A
c.3163+41592C>A (n.3163+41592C>A)
c.1741+41592C>A (n.1741+41592C>A)
c.2342C>A (p.Thr781Asn)
c.2189C>A (p.Thr730Asn)
c.2126C>A (p.Thr709Asn)
c.4115C>A (p.Thr1372Asn)
c.2087C>A (p.Thr696Asn)
c.2069C>A (p.Thr690Asn)
c.2006C>A (p.Thr669Asn)
c.1937C>A (p.Thr646Asn)
c.1934C>A (p.Thr645Asn)
c.1901C>A (p.Thr634Asn)
c.1810+41592C>A (n.1810+41592C>A)
c.1738+41592C>A (n.1738+41592C>A)
c.1735+41592C>A (n.1735+41592C>A)
c.1720+41592C>A (n.1720+41592C>A)
c.1582+41592C>A (n.1582+41592C>A)
c.461C>A (p.Thr154Asn)
c.2090C>A (p.Thr697Asn)
c.2186C>A (p.Thr729Asn)
c.2135C>A (p.Thr712Asn)
c.1813+41592C>A (n.1813+41592C>A)
c.2108C>A (p.Thr703Asn)
c.1585+41592C>A (n.1585+41592C>A)
c.2243C>A (p.Thr748Asn)
c.1988C>A (p.Thr663Asn)
c.1877C>A (p.Thr626Asn)
c.1672+41592C>A (n.1672+41592C>A)
c.1660+41592C>A (n.1660+41592C>A)
c.1744+41592C>A (n.1744+41592C>A)
c.1907C>A (p.Thr636Asn)
c.2225C>A (p.Thr742Asn)
c.1648+41592C>A (n.1648+41592C>A)
c.2216C>A (p.Thr739Asn)
c.1888+41592C>A (n.1888+41592C>A)
c.2078C>A (p.Thr693Asn)
c.2321C>A (p.Thr774Asn)
c.2072C>A (p.Thr691Asn)
c.1993+41592C>A (n.1993+41592C>A)
c.2060C>A (p.Thr687Asn)
c.1657+41592C>A (n.1657+41592C>A)
c.2057C>A (p.Thr686Asn)
c.1996+41592C>A (n.1996+41592C>A)
c.2030C>A (p.Thr677Asn)
c.1904C>A (p.Thr635Asn)
c.1894+41592C>A (n.1894+41592C>A)
c.2315C>A (p.Thr772Asn)
c.1976C>A (p.Thr659Asn)
c.2132C>A (p.Thr711Asn)
c.1669+41592C>A (n.1669+41592C>A)
c.2039C>A (p.Thr680Asn)
c.1588+41592C>A (n.1588+41592C>A)
c.2312C>A (p.Thr771Asn)
c.2138C>A (p.Thr713Asn)
c.1991C>A (p.Thr664Asn)
c.2009C>A (p.Thr670Asn)
c.1859C>A (p.Thr620Asn)
c.2174C>A (p.Thr725Asn)
c.1814C>A (p.Thr605Asn)
c.1817C>A (p.Thr606Asn)
c.1498+41592C>A (n.1498+41592C>A)
c.1820C>A (p.Thr607Asn)
c.1736C>A (p.Thr579Asn)
c.1661C>A (p.Thr554Asn)
c.1889C>A (p.Thr630Asn)
c.1774+41592C>A (n.1774+41592C>A)
c.1970C>A (p.Thr657Asn)
c.1693+41592C>A (n.1693+41592C>A)
c.1696+41592C>A (n.1696+41592C>A)
c.1862C>A (p.Thr621Asn)
c.3707C>A (p.Thr1236Asn)
c.3956C>A (p.Thr1319Asn)
c.3863C>A (p.Thr1288Asn)
c.3860C>A (p.Thr1287Asn)
c.3803C>A (p.Thr1268Asn)
c.3791C>A (p.Thr1264Asn)
c.3773C>A (p.Thr1258Asn)
c.3710C>A (p.Thr1237Asn)
c.3683C>A (p.Thr1228Asn)
c.3665C>A (p.Thr1222Asn)
c.3650C>A (p.Thr1217Asn)
c.3635C>A (p.Thr1212Asn)
c.2213C>A (p.Thr738Asn)
c.2033C>A (p.Thr678Asn)
c.287C>A (p.Thr96Asn)
c.119C>A (p.Thr40Asn)
c.4043C>A (p.Thr1348Asn)
c.3680C>A (p.Thr1227Asn)
c.3641C>A (p.Thr1214Asn)
c.2210C>A (p.Thr737Asn)
 gnomAD v4
6g.72333638C>GCA364692717RIMS1c.3638C>G (p.Thr1213Ser)
c.4169C>G (p.Thr1390Ser)
c.3716C>G (p.Thr1239Ser)
c.1313C>G (p.Thr438Ser)
c.2129C>G (p.Thr710Ser)
c.1570+41592C>G (n.1570+41592C>G)
c.1664C>G (p.Thr555Ser)
n.254+41592C>G
c.2205C>G
c.1768+41592C>G (n.1768+41592C>G)
c.3518C>G (p.Thr1173Ser)
c.3403+41592C>G (n.3403+41592C>G)
c.3316+41592C>G (n.3316+41592C>G)
c.922C>G
c.3163+41592C>G (n.3163+41592C>G)
c.1741+41592C>G (n.1741+41592C>G)
c.2342C>G (p.Thr781Ser)
c.2189C>G (p.Thr730Ser)
c.2126C>G (p.Thr709Ser)
c.4115C>G (p.Thr1372Ser)
c.2087C>G (p.Thr696Ser)
c.2069C>G (p.Thr690Ser)
c.2006C>G (p.Thr669Ser)
c.1937C>G (p.Thr646Ser)
c.1934C>G (p.Thr645Ser)
c.1901C>G (p.Thr634Ser)
c.1810+41592C>G (n.1810+41592C>G)
c.1738+41592C>G (n.1738+41592C>G)
c.1735+41592C>G (n.1735+41592C>G)
c.1720+41592C>G (n.1720+41592C>G)
c.1582+41592C>G (n.1582+41592C>G)
c.461C>G (p.Thr154Ser)
c.2090C>G (p.Thr697Ser)
c.2186C>G (p.Thr729Ser)
c.2135C>G (p.Thr712Ser)
c.1813+41592C>G (n.1813+41592C>G)
c.2108C>G (p.Thr703Ser)
c.1585+41592C>G (n.1585+41592C>G)
c.2243C>G (p.Thr748Ser)
c.1988C>G (p.Thr663Ser)
c.1877C>G (p.Thr626Ser)
c.1672+41592C>G (n.1672+41592C>G)
c.1660+41592C>G (n.1660+41592C>G)
c.1744+41592C>G (n.1744+41592C>G)
c.1907C>G (p.Thr636Ser)
c.2225C>G (p.Thr742Ser)
c.1648+41592C>G (n.1648+41592C>G)
c.2216C>G (p.Thr739Ser)
c.1888+41592C>G (n.1888+41592C>G)
c.2078C>G (p.Thr693Ser)
c.2321C>G (p.Thr774Ser)
c.2072C>G (p.Thr691Ser)
c.1993+41592C>G (n.1993+41592C>G)
c.2060C>G (p.Thr687Ser)
c.1657+41592C>G (n.1657+41592C>G)
c.2057C>G (p.Thr686Ser)
c.1996+41592C>G (n.1996+41592C>G)
c.2030C>G (p.Thr677Ser)
c.1904C>G (p.Thr635Ser)
c.1894+41592C>G (n.1894+41592C>G)
c.2315C>G (p.Thr772Ser)
c.1976C>G (p.Thr659Ser)
c.2132C>G (p.Thr711Ser)
c.1669+41592C>G (n.1669+41592C>G)
c.2039C>G (p.Thr680Ser)
c.1588+41592C>G (n.1588+41592C>G)
c.2312C>G (p.Thr771Ser)
c.2138C>G (p.Thr713Ser)
c.1991C>G (p.Thr664Ser)
c.2009C>G (p.Thr670Ser)
c.1859C>G (p.Thr620Ser)
c.2174C>G (p.Thr725Ser)
c.1814C>G (p.Thr605Ser)
c.1817C>G (p.Thr606Ser)
c.1498+41592C>G (n.1498+41592C>G)
c.1820C>G (p.Thr607Ser)
c.1736C>G (p.Thr579Ser)
c.1661C>G (p.Thr554Ser)
c.1889C>G (p.Thr630Ser)
c.1774+41592C>G (n.1774+41592C>G)
c.1970C>G (p.Thr657Ser)
c.1693+41592C>G (n.1693+41592C>G)
c.1696+41592C>G (n.1696+41592C>G)
c.1862C>G (p.Thr621Ser)
c.3707C>G (p.Thr1236Ser)
c.3956C>G (p.Thr1319Ser)
c.3863C>G (p.Thr1288Ser)
c.3860C>G (p.Thr1287Ser)
c.3803C>G (p.Thr1268Ser)
c.3791C>G (p.Thr1264Ser)
c.3773C>G (p.Thr1258Ser)
c.3710C>G (p.Thr1237Ser)
c.3683C>G (p.Thr1228Ser)
c.3665C>G (p.Thr1222Ser)
c.3650C>G (p.Thr1217Ser)
c.3635C>G (p.Thr1212Ser)
c.2213C>G (p.Thr738Ser)
c.2033C>G (p.Thr678Ser)
c.287C>G (p.Thr96Ser)
c.119C>G (p.Thr40Ser)
c.4043C>G (p.Thr1348Ser)
c.3680C>G (p.Thr1227Ser)
c.3641C>G (p.Thr1214Ser)
c.2210C>G (p.Thr737Ser)
6g.72333638C>TCA364692718RIMS1c.3638C>T (p.Thr1213Ile)
c.4169C>T (p.Thr1390Ile)
c.3716C>T (p.Thr1239Ile)
c.1313C>T (p.Thr438Ile)
c.2129C>T (p.Thr710Ile)
c.1570+41592C>T (n.1570+41592C>T)
c.1664C>T (p.Thr555Ile)
n.254+41592C>T
c.2205C>T
c.1768+41592C>T (n.1768+41592C>T)
c.3518C>T (p.Thr1173Ile)
c.3403+41592C>T (n.3403+41592C>T)
c.3316+41592C>T (n.3316+41592C>T)
c.922C>T
c.3163+41592C>T (n.3163+41592C>T)
c.1741+41592C>T (n.1741+41592C>T)
c.2342C>T (p.Thr781Ile)
c.2189C>T (p.Thr730Ile)
c.2126C>T (p.Thr709Ile)
c.4115C>T (p.Thr1372Ile)
c.2087C>T (p.Thr696Ile)
c.2069C>T (p.Thr690Ile)
c.2006C>T (p.Thr669Ile)
c.1937C>T (p.Thr646Ile)
c.1934C>T (p.Thr645Ile)
c.1901C>T (p.Thr634Ile)
c.1810+41592C>T (n.1810+41592C>T)
c.1738+41592C>T (n.1738+41592C>T)
c.1735+41592C>T (n.1735+41592C>T)
c.1720+41592C>T (n.1720+41592C>T)
c.1582+41592C>T (n.1582+41592C>T)
c.461C>T (p.Thr154Ile)
c.2090C>T (p.Thr697Ile)
c.2186C>T (p.Thr729Ile)
c.2135C>T (p.Thr712Ile)
c.1813+41592C>T (n.1813+41592C>T)
c.2108C>T (p.Thr703Ile)
c.1585+41592C>T (n.1585+41592C>T)
c.2243C>T (p.Thr748Ile)
c.1988C>T (p.Thr663Ile)
c.1877C>T (p.Thr626Ile)
c.1672+41592C>T (n.1672+41592C>T)
c.1660+41592C>T (n.1660+41592C>T)
c.1744+41592C>T (n.1744+41592C>T)
c.1907C>T (p.Thr636Ile)
c.2225C>T (p.Thr742Ile)
c.1648+41592C>T (n.1648+41592C>T)
c.2216C>T (p.Thr739Ile)
c.1888+41592C>T (n.1888+41592C>T)
c.2078C>T (p.Thr693Ile)
c.2321C>T (p.Thr774Ile)
c.2072C>T (p.Thr691Ile)
c.1993+41592C>T (n.1993+41592C>T)
c.2060C>T (p.Thr687Ile)
c.1657+41592C>T (n.1657+41592C>T)
c.2057C>T (p.Thr686Ile)
c.1996+41592C>T (n.1996+41592C>T)
c.2030C>T (p.Thr677Ile)
c.1904C>T (p.Thr635Ile)
c.1894+41592C>T (n.1894+41592C>T)
c.2315C>T (p.Thr772Ile)
c.1976C>T (p.Thr659Ile)
c.2132C>T (p.Thr711Ile)
c.1669+41592C>T (n.1669+41592C>T)
c.2039C>T (p.Thr680Ile)
c.1588+41592C>T (n.1588+41592C>T)
c.2312C>T (p.Thr771Ile)
c.2138C>T (p.Thr713Ile)
c.1991C>T (p.Thr664Ile)
c.2009C>T (p.Thr670Ile)
c.1859C>T (p.Thr620Ile)
c.2174C>T (p.Thr725Ile)
c.1814C>T (p.Thr605Ile)
c.1817C>T (p.Thr606Ile)
c.1498+41592C>T (n.1498+41592C>T)
c.1820C>T (p.Thr607Ile)
c.1736C>T (p.Thr579Ile)
c.1661C>T (p.Thr554Ile)
c.1889C>T (p.Thr630Ile)
c.1774+41592C>T (n.1774+41592C>T)
c.1970C>T (p.Thr657Ile)
c.1693+41592C>T (n.1693+41592C>T)
c.1696+41592C>T (n.1696+41592C>T)
c.1862C>T (p.Thr621Ile)
c.3707C>T (p.Thr1236Ile)
c.3956C>T (p.Thr1319Ile)
c.3863C>T (p.Thr1288Ile)
c.3860C>T (p.Thr1287Ile)
c.3803C>T (p.Thr1268Ile)
c.3791C>T (p.Thr1264Ile)
c.3773C>T (p.Thr1258Ile)
c.3710C>T (p.Thr1237Ile)
c.3683C>T (p.Thr1228Ile)
c.3665C>T (p.Thr1222Ile)
c.3650C>T (p.Thr1217Ile)
c.3635C>T (p.Thr1212Ile)
c.2213C>T (p.Thr738Ile)
c.2033C>T (p.Thr678Ile)
c.287C>T (p.Thr96Ile)
c.119C>T (p.Thr40Ile)
c.4043C>T (p.Thr1348Ile)
c.3680C>T (p.Thr1227Ile)
c.3641C>T (p.Thr1214Ile)
c.2210C>T (p.Thr737Ile)
 gnomAD v4
6g.72333639T>ACA450885920RIMS1c.3639T>A (p.Thr1213=)
c.4170T>A (p.Thr1390=)
c.3717T>A (p.Thr1239=)
c.1314T>A (p.Thr438=)
c.2130T>A (p.Thr710=)
c.1570+41593T>A (n.1570+41593T>A)
c.1665T>A (p.Thr555=)
n.254+41593T>A
c.2206T>A
c.1768+41593T>A (n.1768+41593T>A)
c.3519T>A (p.Thr1173=)
c.3403+41593T>A (n.3403+41593T>A)
c.3316+41593T>A (n.3316+41593T>A)
c.923T>A
c.3163+41593T>A (n.3163+41593T>A)
c.1741+41593T>A (n.1741+41593T>A)
c.2343T>A (p.Thr781=)
c.2190T>A (p.Thr730=)
c.2127T>A (p.Thr709=)
c.4116T>A (p.Thr1372=)
c.2088T>A (p.Thr696=)
c.2070T>A (p.Thr690=)
c.2007T>A (p.Thr669=)
c.1938T>A (p.Thr646=)
c.1935T>A (p.Thr645=)
c.1902T>A (p.Thr634=)
c.1810+41593T>A (n.1810+41593T>A)
c.1738+41593T>A (n.1738+41593T>A)
c.1735+41593T>A (n.1735+41593T>A)
c.1720+41593T>A (n.1720+41593T>A)
c.1582+41593T>A (n.1582+41593T>A)
c.462T>A (p.Thr154=)
c.2091T>A (p.Thr697=)
c.2187T>A (p.Thr729=)
c.2136T>A (p.Thr712=)
c.1813+41593T>A (n.1813+41593T>A)
c.2109T>A (p.Thr703=)
c.1585+41593T>A (n.1585+41593T>A)
c.2244T>A (p.Thr748=)
c.1989T>A (p.Thr663=)
c.1878T>A (p.Thr626=)
c.1672+41593T>A (n.1672+41593T>A)
c.1660+41593T>A (n.1660+41593T>A)
c.1744+41593T>A (n.1744+41593T>A)
c.1908T>A (p.Thr636=)
c.2226T>A (p.Thr742=)
c.1648+41593T>A (n.1648+41593T>A)
c.2217T>A (p.Thr739=)
c.1888+41593T>A (n.1888+41593T>A)
c.2079T>A (p.Thr693=)
c.2322T>A (p.Thr774=)
c.2073T>A (p.Thr691=)
c.1993+41593T>A (n.1993+41593T>A)
c.2061T>A (p.Thr687=)
c.1657+41593T>A (n.1657+41593T>A)
c.2058T>A (p.Thr686=)
c.1996+41593T>A (n.1996+41593T>A)
c.2031T>A (p.Thr677=)
c.1905T>A (p.Thr635=)
c.1894+41593T>A (n.1894+41593T>A)
c.2316T>A (p.Thr772=)
c.1977T>A (p.Thr659=)
c.2133T>A (p.Thr711=)
c.1669+41593T>A (n.1669+41593T>A)
c.2040T>A (p.Thr680=)
c.1588+41593T>A (n.1588+41593T>A)
c.2313T>A (p.Thr771=)
c.2139T>A (p.Thr713=)
c.1992T>A (p.Thr664=)
c.2010T>A (p.Thr670=)
c.1860T>A (p.Thr620=)
c.2175T>A (p.Thr725=)
c.1815T>A (p.Thr605=)
c.1818T>A (p.Thr606=)
c.1498+41593T>A (n.1498+41593T>A)
c.1821T>A (p.Thr607=)
c.1737T>A (p.Thr579=)
c.1662T>A (p.Thr554=)
c.1890T>A (p.Thr630=)
c.1774+41593T>A (n.1774+41593T>A)
c.1971T>A (p.Thr657=)
c.1693+41593T>A (n.1693+41593T>A)
c.1696+41593T>A (n.1696+41593T>A)
c.1863T>A (p.Thr621=)
c.3708T>A (p.Thr1236=)
c.3957T>A (p.Thr1319=)
c.3864T>A (p.Thr1288=)
c.3861T>A (p.Thr1287=)
c.3804T>A (p.Thr1268=)
c.3792T>A (p.Thr1264=)
c.3774T>A (p.Thr1258=)
c.3711T>A (p.Thr1237=)
c.3684T>A (p.Thr1228=)
c.3666T>A (p.Thr1222=)
c.3651T>A (p.Thr1217=)
c.3636T>A (p.Thr1212=)
c.2214T>A (p.Thr738=)
c.2034T>A (p.Thr678=)
c.288T>A (p.Thr96=)
c.120T>A (p.Thr40=)
c.4044T>A (p.Thr1348=)
c.3681T>A (p.Thr1227=)
c.3642T>A (p.Thr1214=)
c.2211T>A (p.Thr737=)
6g.72333639T>CCA450885922RIMS1c.3639T>C (p.Thr1213=)
c.4170T>C (p.Thr1390=)
c.3717T>C (p.Thr1239=)
c.1314T>C (p.Thr438=)
c.2130T>C (p.Thr710=)
c.1570+41593T>C (n.1570+41593T>C)
c.1665T>C (p.Thr555=)
n.254+41593T>C
c.2206T>C
c.1768+41593T>C (n.1768+41593T>C)
c.3519T>C (p.Thr1173=)
c.3403+41593T>C (n.3403+41593T>C)
c.3316+41593T>C (n.3316+41593T>C)
c.923T>C
c.3163+41593T>C (n.3163+41593T>C)
c.1741+41593T>C (n.1741+41593T>C)
c.2343T>C (p.Thr781=)
c.2190T>C (p.Thr730=)
c.2127T>C (p.Thr709=)
c.4116T>C (p.Thr1372=)
c.2088T>C (p.Thr696=)
c.2070T>C (p.Thr690=)
c.2007T>C (p.Thr669=)
c.1938T>C (p.Thr646=)
c.1935T>C (p.Thr645=)
c.1902T>C (p.Thr634=)
c.1810+41593T>C (n.1810+41593T>C)
c.1738+41593T>C (n.1738+41593T>C)
c.1735+41593T>C (n.1735+41593T>C)
c.1720+41593T>C (n.1720+41593T>C)
c.1582+41593T>C (n.1582+41593T>C)
c.462T>C (p.Thr154=)
c.2091T>C (p.Thr697=)
c.2187T>C (p.Thr729=)
c.2136T>C (p.Thr712=)
c.1813+41593T>C (n.1813+41593T>C)
c.2109T>C (p.Thr703=)
c.1585+41593T>C (n.1585+41593T>C)
c.2244T>C (p.Thr748=)
c.1989T>C (p.Thr663=)
c.1878T>C (p.Thr626=)
c.1672+41593T>C (n.1672+41593T>C)
c.1660+41593T>C (n.1660+41593T>C)
c.1744+41593T>C (n.1744+41593T>C)
c.1908T>C (p.Thr636=)
c.2226T>C (p.Thr742=)
c.1648+41593T>C (n.1648+41593T>C)
c.2217T>C (p.Thr739=)
c.1888+41593T>C (n.1888+41593T>C)
c.2079T>C (p.Thr693=)
c.2322T>C (p.Thr774=)
c.2073T>C (p.Thr691=)
c.1993+41593T>C (n.1993+41593T>C)
c.2061T>C (p.Thr687=)
c.1657+41593T>C (n.1657+41593T>C)
c.2058T>C (p.Thr686=)
c.1996+41593T>C (n.1996+41593T>C)
c.2031T>C (p.Thr677=)
c.1905T>C (p.Thr635=)
c.1894+41593T>C (n.1894+41593T>C)
c.2316T>C (p.Thr772=)
c.1977T>C (p.Thr659=)
c.2133T>C (p.Thr711=)
c.1669+41593T>C (n.1669+41593T>C)
c.2040T>C (p.Thr680=)
c.1588+41593T>C (n.1588+41593T>C)
c.2313T>C (p.Thr771=)
c.2139T>C (p.Thr713=)
c.1992T>C (p.Thr664=)
c.2010T>C (p.Thr670=)
c.1860T>C (p.Thr620=)
c.2175T>C (p.Thr725=)
c.1815T>C (p.Thr605=)
c.1818T>C (p.Thr606=)
c.1498+41593T>C (n.1498+41593T>C)
c.1821T>C (p.Thr607=)
c.1737T>C (p.Thr579=)
c.1662T>C (p.Thr554=)
c.1890T>C (p.Thr630=)
c.1774+41593T>C (n.1774+41593T>C)
c.1971T>C (p.Thr657=)
c.1693+41593T>C (n.1693+41593T>C)
c.1696+41593T>C (n.1696+41593T>C)
c.1863T>C (p.Thr621=)
c.3708T>C (p.Thr1236=)
c.3957T>C (p.Thr1319=)
c.3864T>C (p.Thr1288=)
c.3861T>C (p.Thr1287=)
c.3804T>C (p.Thr1268=)
c.3792T>C (p.Thr1264=)
c.3774T>C (p.Thr1258=)
c.3711T>C (p.Thr1237=)
c.3684T>C (p.Thr1228=)
c.3666T>C (p.Thr1222=)
c.3651T>C (p.Thr1217=)
c.3636T>C (p.Thr1212=)
c.2214T>C (p.Thr738=)
c.2034T>C (p.Thr678=)
c.288T>C (p.Thr96=)
c.120T>C (p.Thr40=)
c.4044T>C (p.Thr1348=)
c.3681T>C (p.Thr1227=)
c.3642T>C (p.Thr1214=)
c.2211T>C (p.Thr737=)
6g.72333639T>GCA450885921RIMS1c.3639T>G (p.Thr1213=)
c.4170T>G (p.Thr1390=)
c.3717T>G (p.Thr1239=)
c.1314T>G (p.Thr438=)
c.2130T>G (p.Thr710=)
c.1570+41593T>G (n.1570+41593T>G)
c.1665T>G (p.Thr555=)
n.254+41593T>G
c.2206T>G
c.1768+41593T>G (n.1768+41593T>G)
c.3519T>G (p.Thr1173=)
c.3403+41593T>G (n.3403+41593T>G)
c.3316+41593T>G (n.3316+41593T>G)
c.923T>G
c.3163+41593T>G (n.3163+41593T>G)
c.1741+41593T>G (n.1741+41593T>G)
c.2343T>G (p.Thr781=)
c.2190T>G (p.Thr730=)
c.2127T>G (p.Thr709=)
c.4116T>G (p.Thr1372=)
c.2088T>G (p.Thr696=)
c.2070T>G (p.Thr690=)
c.2007T>G (p.Thr669=)
c.1938T>G (p.Thr646=)
c.1935T>G (p.Thr645=)
c.1902T>G (p.Thr634=)
c.1810+41593T>G (n.1810+41593T>G)
c.1738+41593T>G (n.1738+41593T>G)
c.1735+41593T>G (n.1735+41593T>G)
c.1720+41593T>G (n.1720+41593T>G)
c.1582+41593T>G (n.1582+41593T>G)
c.462T>G (p.Thr154=)
c.2091T>G (p.Thr697=)
c.2187T>G (p.Thr729=)
c.2136T>G (p.Thr712=)
c.1813+41593T>G (n.1813+41593T>G)
c.2109T>G (p.Thr703=)
c.1585+41593T>G (n.1585+41593T>G)
c.2244T>G (p.Thr748=)
c.1989T>G (p.Thr663=)
c.1878T>G (p.Thr626=)
c.1672+41593T>G (n.1672+41593T>G)
c.1660+41593T>G (n.1660+41593T>G)
c.1744+41593T>G (n.1744+41593T>G)
c.1908T>G (p.Thr636=)
c.2226T>G (p.Thr742=)
c.1648+41593T>G (n.1648+41593T>G)
c.2217T>G (p.Thr739=)
c.1888+41593T>G (n.1888+41593T>G)
c.2079T>G (p.Thr693=)
c.2322T>G (p.Thr774=)
c.2073T>G (p.Thr691=)
c.1993+41593T>G (n.1993+41593T>G)
c.2061T>G (p.Thr687=)
c.1657+41593T>G (n.1657+41593T>G)
c.2058T>G (p.Thr686=)
c.1996+41593T>G (n.1996+41593T>G)
c.2031T>G (p.Thr677=)
c.1905T>G (p.Thr635=)
c.1894+41593T>G (n.1894+41593T>G)
c.2316T>G (p.Thr772=)
c.1977T>G (p.Thr659=)
c.2133T>G (p.Thr711=)
c.1669+41593T>G (n.1669+41593T>G)
c.2040T>G (p.Thr680=)
c.1588+41593T>G (n.1588+41593T>G)
c.2313T>G (p.Thr771=)
c.2139T>G (p.Thr713=)
c.1992T>G (p.Thr664=)
c.2010T>G (p.Thr670=)
c.1860T>G (p.Thr620=)
c.2175T>G (p.Thr725=)
c.1815T>G (p.Thr605=)
c.1818T>G (p.Thr606=)
c.1498+41593T>G (n.1498+41593T>G)
c.1821T>G (p.Thr607=)
c.1737T>G (p.Thr579=)
c.1662T>G (p.Thr554=)
c.1890T>G (p.Thr630=)
c.1774+41593T>G (n.1774+41593T>G)
c.1971T>G (p.Thr657=)
c.1693+41593T>G (n.1693+41593T>G)
c.1696+41593T>G (n.1696+41593T>G)
c.1863T>G (p.Thr621=)
c.3708T>G (p.Thr1236=)
c.3957T>G (p.Thr1319=)
c.3864T>G (p.Thr1288=)
c.3861T>G (p.Thr1287=)
c.3804T>G (p.Thr1268=)
c.3792T>G (p.Thr1264=)
c.3774T>G (p.Thr1258=)
c.3711T>G (p.Thr1237=)
c.3684T>G (p.Thr1228=)
c.3666T>G (p.Thr1222=)
c.3651T>G (p.Thr1217=)
c.3636T>G (p.Thr1212=)
c.2214T>G (p.Thr738=)
c.2034T>G (p.Thr678=)
c.288T>G (p.Thr96=)
c.120T>G (p.Thr40=)
c.4044T>G (p.Thr1348=)
c.3681T>G (p.Thr1227=)
c.3642T>G (p.Thr1214=)
c.2211T>G (p.Thr737=)
6g.72333640T>ACA364692719RIMS1c.3640T>A (p.Ser1214Thr)
c.4171T>A (p.Ser1391Thr)
c.3718T>A (p.Ser1240Thr)
c.1315T>A (p.Ser439Thr)
c.2131T>A (p.Ser711Thr)
c.1570+41594T>A (n.1570+41594T>A)
c.1666T>A (p.Ser556Thr)
n.254+41594T>A
c.2207T>A
c.1768+41594T>A (n.1768+41594T>A)
c.3520T>A (p.Ser1174Thr)
c.3403+41594T>A (n.3403+41594T>A)
c.3316+41594T>A (n.3316+41594T>A)
c.924T>A
c.3163+41594T>A (n.3163+41594T>A)
c.1741+41594T>A (n.1741+41594T>A)
c.2344T>A (p.Ser782Thr)
c.2191T>A (p.Ser731Thr)
c.2128T>A (p.Ser710Thr)
c.4117T>A (p.Ser1373Thr)
c.2089T>A (p.Ser697Thr)
c.2071T>A (p.Ser691Thr)
c.2008T>A (p.Ser670Thr)
c.1939T>A (p.Ser647Thr)
c.1936T>A (p.Ser646Thr)
c.1903T>A (p.Ser635Thr)
c.1810+41594T>A (n.1810+41594T>A)
c.1738+41594T>A (n.1738+41594T>A)
c.1735+41594T>A (n.1735+41594T>A)
c.1720+41594T>A (n.1720+41594T>A)
c.1582+41594T>A (n.1582+41594T>A)
c.463T>A (p.Ser155Thr)
c.2092T>A (p.Ser698Thr)
c.2188T>A (p.Ser730Thr)
c.2137T>A (p.Ser713Thr)
c.1813+41594T>A (n.1813+41594T>A)
c.2110T>A (p.Ser704Thr)
c.1585+41594T>A (n.1585+41594T>A)
c.2245T>A (p.Ser749Thr)
c.1990T>A (p.Ser664Thr)
c.1879T>A (p.Ser627Thr)
c.1672+41594T>A (n.1672+41594T>A)
c.1660+41594T>A (n.1660+41594T>A)
c.1744+41594T>A (n.1744+41594T>A)
c.1909T>A (p.Ser637Thr)
c.2227T>A (p.Ser743Thr)
c.1648+41594T>A (n.1648+41594T>A)
c.2218T>A (p.Ser740Thr)
c.1888+41594T>A (n.1888+41594T>A)
c.2080T>A (p.Ser694Thr)
c.2323T>A (p.Ser775Thr)
c.2074T>A (p.Ser692Thr)
c.1993+41594T>A (n.1993+41594T>A)
c.2062T>A (p.Ser688Thr)
c.1657+41594T>A (n.1657+41594T>A)
c.2059T>A (p.Ser687Thr)
c.1996+41594T>A (n.1996+41594T>A)
c.2032T>A (p.Ser678Thr)
c.1906T>A (p.Ser636Thr)
c.1894+41594T>A (n.1894+41594T>A)
c.2317T>A (p.Ser773Thr)
c.1978T>A (p.Ser660Thr)
c.2134T>A (p.Ser712Thr)
c.1669+41594T>A (n.1669+41594T>A)
c.2041T>A (p.Ser681Thr)
c.1588+41594T>A (n.1588+41594T>A)
c.2314T>A (p.Ser772Thr)
c.2140T>A (p.Ser714Thr)
c.1993T>A (p.Ser665Thr)
c.2011T>A (p.Ser671Thr)
c.1861T>A (p.Ser621Thr)
c.2176T>A (p.Ser726Thr)
c.1816T>A (p.Ser606Thr)
c.1819T>A (p.Ser607Thr)
c.1498+41594T>A (n.1498+41594T>A)
c.1822T>A (p.Ser608Thr)
c.1738T>A (p.Ser580Thr)
c.1663T>A (p.Ser555Thr)
c.1891T>A (p.Ser631Thr)
c.1774+41594T>A (n.1774+41594T>A)
c.1972T>A (p.Ser658Thr)
c.1693+41594T>A (n.1693+41594T>A)
c.1696+41594T>A (n.1696+41594T>A)
c.1864T>A (p.Ser622Thr)
c.3709T>A (p.Ser1237Thr)
c.3958T>A (p.Ser1320Thr)
c.3865T>A (p.Ser1289Thr)
c.3862T>A (p.Ser1288Thr)
c.3805T>A (p.Ser1269Thr)
c.3793T>A (p.Ser1265Thr)
c.3775T>A (p.Ser1259Thr)
c.3712T>A (p.Ser1238Thr)
c.3685T>A (p.Ser1229Thr)
c.3667T>A (p.Ser1223Thr)
c.3652T>A (p.Ser1218Thr)
c.3637T>A (p.Ser1213Thr)
c.2215T>A (p.Ser739Thr)
c.2035T>A (p.Ser679Thr)
c.289T>A (p.Ser97Thr)
c.121T>A (p.Ser41Thr)
c.4045T>A (p.Ser1349Thr)
c.3682T>A (p.Ser1228Thr)
c.3643T>A (p.Ser1215Thr)
c.2212T>A (p.Ser738Thr)
 COSMIC
6g.72333640T>CCA364692721RIMS1c.3640T>C (p.Ser1214Pro)
c.4171T>C (p.Ser1391Pro)
c.3718T>C (p.Ser1240Pro)
c.1315T>C (p.Ser439Pro)
c.2131T>C (p.Ser711Pro)
c.1570+41594T>C (n.1570+41594T>C)
c.1666T>C (p.Ser556Pro)
n.254+41594T>C
c.2207T>C
c.1768+41594T>C (n.1768+41594T>C)
c.3520T>C (p.Ser1174Pro)
c.3403+41594T>C (n.3403+41594T>C)
c.3316+41594T>C (n.3316+41594T>C)
c.924T>C
c.3163+41594T>C (n.3163+41594T>C)
c.1741+41594T>C (n.1741+41594T>C)
c.2344T>C (p.Ser782Pro)
c.2191T>C (p.Ser731Pro)
c.2128T>C (p.Ser710Pro)
c.4117T>C (p.Ser1373Pro)
c.2089T>C (p.Ser697Pro)
c.2071T>C (p.Ser691Pro)
c.2008T>C (p.Ser670Pro)
c.1939T>C (p.Ser647Pro)
c.1936T>C (p.Ser646Pro)
c.1903T>C (p.Ser635Pro)
c.1810+41594T>C (n.1810+41594T>C)
c.1738+41594T>C (n.1738+41594T>C)
c.1735+41594T>C (n.1735+41594T>C)
c.1720+41594T>C (n.1720+41594T>C)
c.1582+41594T>C (n.1582+41594T>C)
c.463T>C (p.Ser155Pro)
c.2092T>C (p.Ser698Pro)
c.2188T>C (p.Ser730Pro)
c.2137T>C (p.Ser713Pro)
c.1813+41594T>C (n.1813+41594T>C)
c.2110T>C (p.Ser704Pro)
c.1585+41594T>C (n.1585+41594T>C)
c.2245T>C (p.Ser749Pro)
c.1990T>C (p.Ser664Pro)
c.1879T>C (p.Ser627Pro)
c.1672+41594T>C (n.1672+41594T>C)
c.1660+41594T>C (n.1660+41594T>C)
c.1744+41594T>C (n.1744+41594T>C)
c.1909T>C (p.Ser637Pro)
c.2227T>C (p.Ser743Pro)
c.1648+41594T>C (n.1648+41594T>C)
c.2218T>C (p.Ser740Pro)
c.1888+41594T>C (n.1888+41594T>C)
c.2080T>C (p.Ser694Pro)
c.2323T>C (p.Ser775Pro)
c.2074T>C (p.Ser692Pro)
c.1993+41594T>C (n.1993+41594T>C)
c.2062T>C (p.Ser688Pro)
c.1657+41594T>C (n.1657+41594T>C)
c.2059T>C (p.Ser687Pro)
c.1996+41594T>C (n.1996+41594T>C)
c.2032T>C (p.Ser678Pro)
c.1906T>C (p.Ser636Pro)
c.1894+41594T>C (n.1894+41594T>C)
c.2317T>C (p.Ser773Pro)
c.1978T>C (p.Ser660Pro)
c.2134T>C (p.Ser712Pro)
c.1669+41594T>C (n.1669+41594T>C)
c.2041T>C (p.Ser681Pro)
c.1588+41594T>C (n.1588+41594T>C)
c.2314T>C (p.Ser772Pro)
c.2140T>C (p.Ser714Pro)
c.1993T>C (p.Ser665Pro)
c.2011T>C (p.Ser671Pro)
c.1861T>C (p.Ser621Pro)
c.2176T>C (p.Ser726Pro)
c.1816T>C (p.Ser606Pro)
c.1819T>C (p.Ser607Pro)
c.1498+41594T>C (n.1498+41594T>C)
c.1822T>C (p.Ser608Pro)
c.1738T>C (p.Ser580Pro)
c.1663T>C (p.Ser555Pro)
c.1891T>C (p.Ser631Pro)
c.1774+41594T>C (n.1774+41594T>C)
c.1972T>C (p.Ser658Pro)
c.1693+41594T>C (n.1693+41594T>C)
c.1696+41594T>C (n.1696+41594T>C)
c.1864T>C (p.Ser622Pro)
c.3709T>C (p.Ser1237Pro)
c.3958T>C (p.Ser1320Pro)
c.3865T>C (p.Ser1289Pro)
c.3862T>C (p.Ser1288Pro)
c.3805T>C (p.Ser1269Pro)
c.3793T>C (p.Ser1265Pro)
c.3775T>C (p.Ser1259Pro)
c.3712T>C (p.Ser1238Pro)
c.3685T>C (p.Ser1229Pro)
c.3667T>C (p.Ser1223Pro)
c.3652T>C (p.Ser1218Pro)
c.3637T>C (p.Ser1213Pro)
c.2215T>C (p.Ser739Pro)
c.2035T>C (p.Ser679Pro)
c.289T>C (p.Ser97Pro)
c.121T>C (p.Ser41Pro)
c.4045T>C (p.Ser1349Pro)
c.3682T>C (p.Ser1228Pro)
c.3643T>C (p.Ser1215Pro)
c.2212T>C (p.Ser738Pro)
6g.72333640T>GCA364692720RIMS1c.3640T>G (p.Ser1214Ala)
c.4171T>G (p.Ser1391Ala)
c.3718T>G (p.Ser1240Ala)
c.1315T>G (p.Ser439Ala)
c.2131T>G (p.Ser711Ala)
c.1570+41594T>G (n.1570+41594T>G)
c.1666T>G (p.Ser556Ala)
n.254+41594T>G
c.2207T>G
c.1768+41594T>G (n.1768+41594T>G)
c.3520T>G (p.Ser1174Ala)
c.3403+41594T>G (n.3403+41594T>G)
c.3316+41594T>G (n.3316+41594T>G)
c.924T>G
c.3163+41594T>G (n.3163+41594T>G)
c.1741+41594T>G (n.1741+41594T>G)
c.2344T>G (p.Ser782Ala)
c.2191T>G (p.Ser731Ala)
c.2128T>G (p.Ser710Ala)
c.4117T>G (p.Ser1373Ala)
c.2089T>G (p.Ser697Ala)
c.2071T>G (p.Ser691Ala)
c.2008T>G (p.Ser670Ala)
c.1939T>G (p.Ser647Ala)
c.1936T>G (p.Ser646Ala)
c.1903T>G (p.Ser635Ala)
c.1810+41594T>G (n.1810+41594T>G)
c.1738+41594T>G (n.1738+41594T>G)
c.1735+41594T>G (n.1735+41594T>G)
c.1720+41594T>G (n.1720+41594T>G)
c.1582+41594T>G (n.1582+41594T>G)
c.463T>G (p.Ser155Ala)
c.2092T>G (p.Ser698Ala)
c.2188T>G (p.Ser730Ala)
c.2137T>G (p.Ser713Ala)
c.1813+41594T>G (n.1813+41594T>G)
c.2110T>G (p.Ser704Ala)
c.1585+41594T>G (n.1585+41594T>G)
c.2245T>G (p.Ser749Ala)
c.1990T>G (p.Ser664Ala)
c.1879T>G (p.Ser627Ala)
c.1672+41594T>G (n.1672+41594T>G)
c.1660+41594T>G (n.1660+41594T>G)
c.1744+41594T>G (n.1744+41594T>G)
c.1909T>G (p.Ser637Ala)
c.2227T>G (p.Ser743Ala)
c.1648+41594T>G (n.1648+41594T>G)
c.2218T>G (p.Ser740Ala)
c.1888+41594T>G (n.1888+41594T>G)
c.2080T>G (p.Ser694Ala)
c.2323T>G (p.Ser775Ala)
c.2074T>G (p.Ser692Ala)
c.1993+41594T>G (n.1993+41594T>G)
c.2062T>G (p.Ser688Ala)
c.1657+41594T>G (n.1657+41594T>G)
c.2059T>G (p.Ser687Ala)
c.1996+41594T>G (n.1996+41594T>G)
c.2032T>G (p.Ser678Ala)
c.1906T>G (p.Ser636Ala)
c.1894+41594T>G (n.1894+41594T>G)
c.2317T>G (p.Ser773Ala)
c.1978T>G (p.Ser660Ala)
c.2134T>G (p.Ser712Ala)
c.1669+41594T>G (n.1669+41594T>G)
c.2041T>G (p.Ser681Ala)
c.1588+41594T>G (n.1588+41594T>G)
c.2314T>G (p.Ser772Ala)
c.2140T>G (p.Ser714Ala)
c.1993T>G (p.Ser665Ala)
c.2011T>G (p.Ser671Ala)
c.1861T>G (p.Ser621Ala)
c.2176T>G (p.Ser726Ala)
c.1816T>G (p.Ser606Ala)
c.1819T>G (p.Ser607Ala)
c.1498+41594T>G (n.1498+41594T>G)
c.1822T>G (p.Ser608Ala)
c.1738T>G (p.Ser580Ala)
c.1663T>G (p.Ser555Ala)
c.1891T>G (p.Ser631Ala)
c.1774+41594T>G (n.1774+41594T>G)
c.1972T>G (p.Ser658Ala)
c.1693+41594T>G (n.1693+41594T>G)
c.1696+41594T>G (n.1696+41594T>G)
c.1864T>G (p.Ser622Ala)
c.3709T>G (p.Ser1237Ala)
c.3958T>G (p.Ser1320Ala)
c.3865T>G (p.Ser1289Ala)
c.3862T>G (p.Ser1288Ala)
c.3805T>G (p.Ser1269Ala)
c.3793T>G (p.Ser1265Ala)
c.3775T>G (p.Ser1259Ala)
c.3712T>G (p.Ser1238Ala)
c.3685T>G (p.Ser1229Ala)
c.3667T>G (p.Ser1223Ala)
c.3652T>G (p.Ser1218Ala)
c.3637T>G (p.Ser1213Ala)
c.2215T>G (p.Ser739Ala)
c.2035T>G (p.Ser679Ala)
c.289T>G (p.Ser97Ala)
c.121T>G (p.Ser41Ala)
c.4045T>G (p.Ser1349Ala)
c.3682T>G (p.Ser1228Ala)
c.3643T>G (p.Ser1215Ala)
c.2212T>G (p.Ser738Ala)
6g.72333641C>ACA364692722RIMS1c.3641C>A (p.Ser1214Ter)
c.4172C>A (p.Ser1391Ter)
c.3719C>A (p.Ser1240Ter)
c.1316C>A (p.Ser439Ter)
c.2132C>A (p.Ser711Ter)
c.1570+41595C>A (n.1570+41595C>A)
c.1667C>A (p.Ser556Ter)
n.254+41595C>A
c.2208C>A
c.1768+41595C>A (n.1768+41595C>A)
c.3521C>A (p.Ser1174Ter)
c.3403+41595C>A (n.3403+41595C>A)
c.3316+41595C>A (n.3316+41595C>A)
c.925C>A
c.3163+41595C>A (n.3163+41595C>A)
c.1741+41595C>A (n.1741+41595C>A)
c.2345C>A (p.Ser782Ter)
c.2192C>A (p.Ser731Ter)
c.2129C>A (p.Ser710Ter)
c.4118C>A (p.Ser1373Ter)
c.2090C>A (p.Ser697Ter)
c.2072C>A (p.Ser691Ter)
c.2009C>A (p.Ser670Ter)
c.1940C>A (p.Ser647Ter)
c.1937C>A (p.Ser646Ter)
c.1904C>A (p.Ser635Ter)
c.1810+41595C>A (n.1810+41595C>A)
c.1738+41595C>A (n.1738+41595C>A)
c.1735+41595C>A (n.1735+41595C>A)
c.1720+41595C>A (n.1720+41595C>A)
c.1582+41595C>A (n.1582+41595C>A)
c.464C>A (p.Ser155Ter)
c.2093C>A (p.Ser698Ter)
c.2189C>A (p.Ser730Ter)
c.2138C>A (p.Ser713Ter)
c.1813+41595C>A (n.1813+41595C>A)
c.2111C>A (p.Ser704Ter)
c.1585+41595C>A (n.1585+41595C>A)
c.2246C>A (p.Ser749Ter)
c.1991C>A (p.Ser664Ter)
c.1880C>A (p.Ser627Ter)
c.1672+41595C>A (n.1672+41595C>A)
c.1660+41595C>A (n.1660+41595C>A)
c.1744+41595C>A (n.1744+41595C>A)
c.1910C>A (p.Ser637Ter)
c.2228C>A (p.Ser743Ter)
c.1648+41595C>A (n.1648+41595C>A)
c.2219C>A (p.Ser740Ter)
c.1888+41595C>A (n.1888+41595C>A)
c.2081C>A (p.Ser694Ter)
c.2324C>A (p.Ser775Ter)
c.2075C>A (p.Ser692Ter)
c.1993+41595C>A (n.1993+41595C>A)
c.2063C>A (p.Ser688Ter)
c.1657+41595C>A (n.1657+41595C>A)
c.2060C>A (p.Ser687Ter)
c.1996+41595C>A (n.1996+41595C>A)
c.2033C>A (p.Ser678Ter)
c.1907C>A (p.Ser636Ter)
c.1894+41595C>A (n.1894+41595C>A)
c.2318C>A (p.Ser773Ter)
c.1979C>A (p.Ser660Ter)
c.2135C>A (p.Ser712Ter)
c.1669+41595C>A (n.1669+41595C>A)
c.2042C>A (p.Ser681Ter)
c.1588+41595C>A (n.1588+41595C>A)
c.2315C>A (p.Ser772Ter)
c.2141C>A (p.Ser714Ter)
c.1994C>A (p.Ser665Ter)
c.2012C>A (p.Ser671Ter)
c.1862C>A (p.Ser621Ter)
c.2177C>A (p.Ser726Ter)
c.1817C>A (p.Ser606Ter)
c.1820C>A (p.Ser607Ter)
c.1498+41595C>A (n.1498+41595C>A)
c.1823C>A (p.Ser608Ter)
c.1739C>A (p.Ser580Ter)
c.1664C>A (p.Ser555Ter)
c.1892C>A (p.Ser631Ter)
c.1774+41595C>A (n.1774+41595C>A)
c.1973C>A (p.Ser658Ter)
c.1693+41595C>A (n.1693+41595C>A)
c.1696+41595C>A (n.1696+41595C>A)
c.1865C>A (p.Ser622Ter)
c.3710C>A (p.Ser1237Ter)
c.3959C>A (p.Ser1320Ter)
c.3866C>A (p.Ser1289Ter)
c.3863C>A (p.Ser1288Ter)
c.3806C>A (p.Ser1269Ter)
c.3794C>A (p.Ser1265Ter)
c.3776C>A (p.Ser1259Ter)
c.3713C>A (p.Ser1238Ter)
c.3686C>A (p.Ser1229Ter)
c.3668C>A (p.Ser1223Ter)
c.3653C>A (p.Ser1218Ter)
c.3638C>A (p.Ser1213Ter)
c.2216C>A (p.Ser739Ter)
c.2036C>A (p.Ser679Ter)
c.290C>A (p.Ser97Ter)
c.122C>A (p.Ser41Ter)
c.4046C>A (p.Ser1349Ter)
c.3683C>A (p.Ser1228Ter)
c.3644C>A (p.Ser1215Ter)
c.2213C>A (p.Ser738Ter)
 gnomAD v4
6g.72333641C>GCA364692723RIMS1c.3641C>G (p.Ser1214Ter)
c.4172C>G (p.Ser1391Ter)
c.3719C>G (p.Ser1240Ter)
c.1316C>G (p.Ser439Ter)
c.2132C>G (p.Ser711Ter)
c.1570+41595C>G (n.1570+41595C>G)
c.1667C>G (p.Ser556Ter)
n.254+41595C>G
c.2208C>G
c.1768+41595C>G (n.1768+41595C>G)
c.3521C>G (p.Ser1174Ter)
c.3403+41595C>G (n.3403+41595C>G)
c.3316+41595C>G (n.3316+41595C>G)
c.925C>G
c.3163+41595C>G (n.3163+41595C>G)
c.1741+41595C>G (n.1741+41595C>G)
c.2345C>G (p.Ser782Ter)
c.2192C>G (p.Ser731Ter)
c.2129C>G (p.Ser710Ter)
c.4118C>G (p.Ser1373Ter)
c.2090C>G (p.Ser697Ter)
c.2072C>G (p.Ser691Ter)
c.2009C>G (p.Ser670Ter)
c.1940C>G (p.Ser647Ter)
c.1937C>G (p.Ser646Ter)
c.1904C>G (p.Ser635Ter)
c.1810+41595C>G (n.1810+41595C>G)
c.1738+41595C>G (n.1738+41595C>G)
c.1735+41595C>G (n.1735+41595C>G)
c.1720+41595C>G (n.1720+41595C>G)
c.1582+41595C>G (n.1582+41595C>G)
c.464C>G (p.Ser155Ter)
c.2093C>G (p.Ser698Ter)
c.2189C>G (p.Ser730Ter)
c.2138C>G (p.Ser713Ter)
c.1813+41595C>G (n.1813+41595C>G)
c.2111C>G (p.Ser704Ter)
c.1585+41595C>G (n.1585+41595C>G)
c.2246C>G (p.Ser749Ter)
c.1991C>G (p.Ser664Ter)
c.1880C>G (p.Ser627Ter)
c.1672+41595C>G (n.1672+41595C>G)
c.1660+41595C>G (n.1660+41595C>G)
c.1744+41595C>G (n.1744+41595C>G)
c.1910C>G (p.Ser637Ter)
c.2228C>G (p.Ser743Ter)
c.1648+41595C>G (n.1648+41595C>G)
c.2219C>G (p.Ser740Ter)
c.1888+41595C>G (n.1888+41595C>G)
c.2081C>G (p.Ser694Ter)
c.2324C>G (p.Ser775Ter)
c.2075C>G (p.Ser692Ter)
c.1993+41595C>G (n.1993+41595C>G)
c.2063C>G (p.Ser688Ter)
c.1657+41595C>G (n.1657+41595C>G)
c.2060C>G (p.Ser687Ter)
c.1996+41595C>G (n.1996+41595C>G)
c.2033C>G (p.Ser678Ter)
c.1907C>G (p.Ser636Ter)
c.1894+41595C>G (n.1894+41595C>G)
c.2318C>G (p.Ser773Ter)
c.1979C>G (p.Ser660Ter)
c.2135C>G (p.Ser712Ter)
c.1669+41595C>G (n.1669+41595C>G)
c.2042C>G (p.Ser681Ter)
c.1588+41595C>G (n.1588+41595C>G)
c.2315C>G (p.Ser772Ter)
c.2141C>G (p.Ser714Ter)
c.1994C>G (p.Ser665Ter)
c.2012C>G (p.Ser671Ter)
c.1862C>G (p.Ser621Ter)
c.2177C>G (p.Ser726Ter)
c.1817C>G (p.Ser606Ter)
c.1820C>G (p.Ser607Ter)
c.1498+41595C>G (n.1498+41595C>G)
c.1823C>G (p.Ser608Ter)
c.1739C>G (p.Ser580Ter)
c.1664C>G (p.Ser555Ter)
c.1892C>G (p.Ser631Ter)
c.1774+41595C>G (n.1774+41595C>G)
c.1973C>G (p.Ser658Ter)
c.1693+41595C>G (n.1693+41595C>G)
c.1696+41595C>G (n.1696+41595C>G)
c.1865C>G (p.Ser622Ter)
c.3710C>G (p.Ser1237Ter)
c.3959C>G (p.Ser1320Ter)
c.3866C>G (p.Ser1289Ter)
c.3863C>G (p.Ser1288Ter)
c.3806C>G (p.Ser1269Ter)
c.3794C>G (p.Ser1265Ter)
c.3776C>G (p.Ser1259Ter)
c.3713C>G (p.Ser1238Ter)
c.3686C>G (p.Ser1229Ter)
c.3668C>G (p.Ser1223Ter)
c.3653C>G (p.Ser1218Ter)
c.3638C>G (p.Ser1213Ter)
c.2216C>G (p.Ser739Ter)
c.2036C>G (p.Ser679Ter)
c.290C>G (p.Ser97Ter)
c.122C>G (p.Ser41Ter)
c.4046C>G (p.Ser1349Ter)
c.3683C>G (p.Ser1228Ter)
c.3644C>G (p.Ser1215Ter)
c.2213C>G (p.Ser738Ter)
6g.72333641C>TCA364692724RIMS1c.3641C>T (p.Ser1214Leu)
c.4172C>T (p.Ser1391Leu)
c.3719C>T (p.Ser1240Leu)
c.1316C>T (p.Ser439Leu)
c.2132C>T (p.Ser711Leu)
c.1570+41595C>T (n.1570+41595C>T)
c.1667C>T (p.Ser556Leu)
n.254+41595C>T
c.2208C>T
c.1768+41595C>T (n.1768+41595C>T)
c.3521C>T (p.Ser1174Leu)
c.3403+41595C>T (n.3403+41595C>T)
c.3316+41595C>T (n.3316+41595C>T)
c.925C>T
c.3163+41595C>T (n.3163+41595C>T)
c.1741+41595C>T (n.1741+41595C>T)
c.2345C>T (p.Ser782Leu)
c.2192C>T (p.Ser731Leu)
c.2129C>T (p.Ser710Leu)
c.4118C>T (p.Ser1373Leu)
c.2090C>T (p.Ser697Leu)
c.2072C>T (p.Ser691Leu)
c.2009C>T (p.Ser670Leu)
c.1940C>T (p.Ser647Leu)
c.1937C>T (p.Ser646Leu)
c.1904C>T (p.Ser635Leu)
c.1810+41595C>T (n.1810+41595C>T)
c.1738+41595C>T (n.1738+41595C>T)
c.1735+41595C>T (n.1735+41595C>T)
c.1720+41595C>T (n.1720+41595C>T)
c.1582+41595C>T (n.1582+41595C>T)
c.464C>T (p.Ser155Leu)
c.2093C>T (p.Ser698Leu)
c.2189C>T (p.Ser730Leu)
c.2138C>T (p.Ser713Leu)
c.1813+41595C>T (n.1813+41595C>T)
c.2111C>T (p.Ser704Leu)
c.1585+41595C>T (n.1585+41595C>T)
c.2246C>T (p.Ser749Leu)
c.1991C>T (p.Ser664Leu)
c.1880C>T (p.Ser627Leu)
c.1672+41595C>T (n.1672+41595C>T)
c.1660+41595C>T (n.1660+41595C>T)
c.1744+41595C>T (n.1744+41595C>T)
c.1910C>T (p.Ser637Leu)
c.2228C>T (p.Ser743Leu)
c.1648+41595C>T (n.1648+41595C>T)
c.2219C>T (p.Ser740Leu)
c.1888+41595C>T (n.1888+41595C>T)
c.2081C>T (p.Ser694Leu)
c.2324C>T (p.Ser775Leu)
c.2075C>T (p.Ser692Leu)
c.1993+41595C>T (n.1993+41595C>T)
c.2063C>T (p.Ser688Leu)
c.1657+41595C>T (n.1657+41595C>T)
c.2060C>T (p.Ser687Leu)
c.1996+41595C>T (n.1996+41595C>T)
c.2033C>T (p.Ser678Leu)
c.1907C>T (p.Ser636Leu)
c.1894+41595C>T (n.1894+41595C>T)
c.2318C>T (p.Ser773Leu)
c.1979C>T (p.Ser660Leu)
c.2135C>T (p.Ser712Leu)
c.1669+41595C>T (n.1669+41595C>T)
c.2042C>T (p.Ser681Leu)
c.1588+41595C>T (n.1588+41595C>T)
c.2315C>T (p.Ser772Leu)
c.2141C>T (p.Ser714Leu)
c.1994C>T (p.Ser665Leu)
c.2012C>T (p.Ser671Leu)
c.1862C>T (p.Ser621Leu)
c.2177C>T (p.Ser726Leu)
c.1817C>T (p.Ser606Leu)
c.1820C>T (p.Ser607Leu)
c.1498+41595C>T (n.1498+41595C>T)
c.1823C>T (p.Ser608Leu)
c.1739C>T (p.Ser580Leu)
c.1664C>T (p.Ser555Leu)
c.1892C>T (p.Ser631Leu)
c.1774+41595C>T (n.1774+41595C>T)
c.1973C>T (p.Ser658Leu)
c.1693+41595C>T (n.1693+41595C>T)
c.1696+41595C>T (n.1696+41595C>T)
c.1865C>T (p.Ser622Leu)
c.3710C>T (p.Ser1237Leu)
c.3959C>T (p.Ser1320Leu)
c.3866C>T (p.Ser1289Leu)
c.3863C>T (p.Ser1288Leu)
c.3806C>T (p.Ser1269Leu)
c.3794C>T (p.Ser1265Leu)
c.3776C>T (p.Ser1259Leu)
c.3713C>T (p.Ser1238Leu)
c.3686C>T (p.Ser1229Leu)
c.3668C>T (p.Ser1223Leu)
c.3653C>T (p.Ser1218Leu)
c.3638C>T (p.Ser1213Leu)
c.2216C>T (p.Ser739Leu)
c.2036C>T (p.Ser679Leu)
c.290C>T (p.Ser97Leu)
c.122C>T (p.Ser41Leu)
c.4046C>T (p.Ser1349Leu)
c.3683C>T (p.Ser1228Leu)
c.3644C>T (p.Ser1215Leu)
c.2213C>T (p.Ser738Leu)
 gnomAD v4
6g.72333642A=CA1637650219RIMS1c.3642A= (p.Ser1214=)
c.4173A= (p.Ser1391=)
c.3720A= (p.Ser1240=)
c.1317A= (p.Ser439=)
c.2133A= (p.Ser711=)
c.1570+41596A= (n.1570+41596A=)
c.1668A= (p.Ser556=)
n.254+41596A=
c.2209A=
c.1768+41596A= (n.1768+41596A=)
c.3522A= (p.Ser1174=)
c.3403+41596A= (n.3403+41596A=)
c.3316+41596A= (n.3316+41596A=)
c.926A=
c.3163+41596A= (n.3163+41596A=)
c.1741+41596A= (n.1741+41596A=)
c.2346A= (p.Ser782=)
c.2193A= (p.Ser731=)
c.2130A= (p.Ser710=)
c.4119A= (p.Ser1373=)
c.2091A= (p.Ser697=)
c.2073A= (p.Ser691=)
c.2010A= (p.Ser670=)
c.1941A= (p.Ser647=)
c.1938A= (p.Ser646=)
c.1905A= (p.Ser635=)
c.1810+41596A= (n.1810+41596A=)
c.1738+41596A= (n.1738+41596A=)
c.1735+41596A= (n.1735+41596A=)
c.1720+41596A= (n.1720+41596A=)
c.1582+41596A= (n.1582+41596A=)
c.465A= (p.Ser155=)
c.2094A= (p.Ser698=)
c.2190A= (p.Ser730=)
c.2139A= (p.Ser713=)
c.1813+41596A= (n.1813+41596A=)
c.2112A= (p.Ser704=)
c.1585+41596A= (n.1585+41596A=)
c.2247A= (p.Ser749=)
c.1992A= (p.Ser664=)
c.1881A= (p.Ser627=)
c.1672+41596A= (n.1672+41596A=)
c.1660+41596A= (n.1660+41596A=)
c.1744+41596A= (n.1744+41596A=)
c.1911A= (p.Ser637=)
c.2229A= (p.Ser743=)
c.1648+41596A= (n.1648+41596A=)
c.2220A= (p.Ser740=)
c.1888+41596A= (n.1888+41596A=)
c.2082A= (p.Ser694=)
c.2325A= (p.Ser775=)
c.2076A= (p.Ser692=)
c.1993+41596A= (n.1993+41596A=)
c.2064A= (p.Ser688=)
c.1657+41596A= (n.1657+41596A=)
c.2061A= (p.Ser687=)
c.1996+41596A= (n.1996+41596A=)
c.2034A= (p.Ser678=)
c.1908A= (p.Ser636=)
c.1894+41596A= (n.1894+41596A=)
c.2319A= (p.Ser773=)
c.1980A= (p.Ser660=)
c.2136A= (p.Ser712=)
c.1669+41596A= (n.1669+41596A=)
c.2043A= (p.Ser681=)
c.1588+41596A= (n.1588+41596A=)
c.2316A= (p.Ser772=)
c.2142A= (p.Ser714=)
c.1995A= (p.Ser665=)
c.2013A= (p.Ser671=)
c.1863A= (p.Ser621=)
c.2178A= (p.Ser726=)
c.1818A= (p.Ser606=)
c.1821A= (p.Ser607=)
c.1498+41596A= (n.1498+41596A=)
c.1824A= (p.Ser608=)
c.1740A= (p.Ser580=)
c.1665A= (p.Ser555=)
c.1893A= (p.Ser631=)
c.1774+41596A= (n.1774+41596A=)
c.1974A= (p.Ser658=)
c.1693+41596A= (n.1693+41596A=)
c.1696+41596A= (n.1696+41596A=)
c.1866A= (p.Ser622=)
c.3711A= (p.Ser1237=)
c.3960A= (p.Ser1320=)
c.3867A= (p.Ser1289=)
c.3864A= (p.Ser1288=)
c.3807A= (p.Ser1269=)
c.3795A= (p.Ser1265=)
c.3777A= (p.Ser1259=)
c.3714A= (p.Ser1238=)
c.3687A= (p.Ser1229=)
c.3669A= (p.Ser1223=)
c.3654A= (p.Ser1218=)
c.3639A= (p.Ser1213=)
c.2217A= (p.Ser739=)
c.2037A= (p.Ser679=)
c.291A= (p.Ser97=)
c.123A= (p.Ser41=)
c.4047A= (p.Ser1349=)
c.3684A= (p.Ser1228=)
c.3645A= (p.Ser1215=)
c.2214A= (p.Ser738=)
6g.72333642A>CCA450885925RIMS1c.3642A>C (p.Ser1214=)
c.4173A>C (p.Ser1391=)
c.3720A>C (p.Ser1240=)
c.1317A>C (p.Ser439=)
c.2133A>C (p.Ser711=)
c.1570+41596A>C (n.1570+41596A>C)
c.1668A>C (p.Ser556=)
n.254+41596A>C
c.2209A>C
c.1768+41596A>C (n.1768+41596A>C)
c.3522A>C (p.Ser1174=)
c.3403+41596A>C (n.3403+41596A>C)
c.3316+41596A>C (n.3316+41596A>C)
c.926A>C
c.3163+41596A>C (n.3163+41596A>C)
c.1741+41596A>C (n.1741+41596A>C)
c.2346A>C (p.Ser782=)
c.2193A>C (p.Ser731=)
c.2130A>C (p.Ser710=)
c.4119A>C (p.Ser1373=)
c.2091A>C (p.Ser697=)
c.2073A>C (p.Ser691=)
c.2010A>C (p.Ser670=)
c.1941A>C (p.Ser647=)
c.1938A>C (p.Ser646=)
c.1905A>C (p.Ser635=)
c.1810+41596A>C (n.1810+41596A>C)
c.1738+41596A>C (n.1738+41596A>C)
c.1735+41596A>C (n.1735+41596A>C)
c.1720+41596A>C (n.1720+41596A>C)
c.1582+41596A>C (n.1582+41596A>C)
c.465A>C (p.Ser155=)
c.2094A>C (p.Ser698=)
c.2190A>C (p.Ser730=)
c.2139A>C (p.Ser713=)
c.1813+41596A>C (n.1813+41596A>C)
c.2112A>C (p.Ser704=)
c.1585+41596A>C (n.1585+41596A>C)
c.2247A>C (p.Ser749=)
c.1992A>C (p.Ser664=)
c.1881A>C (p.Ser627=)
c.1672+41596A>C (n.1672+41596A>C)
c.1660+41596A>C (n.1660+41596A>C)
c.1744+41596A>C (n.1744+41596A>C)
c.1911A>C (p.Ser637=)
c.2229A>C (p.Ser743=)
c.1648+41596A>C (n.1648+41596A>C)
c.2220A>C (p.Ser740=)
c.1888+41596A>C (n.1888+41596A>C)
c.2082A>C (p.Ser694=)
c.2325A>C (p.Ser775=)
c.2076A>C (p.Ser692=)
c.1993+41596A>C (n.1993+41596A>C)
c.2064A>C (p.Ser688=)
c.1657+41596A>C (n.1657+41596A>C)
c.2061A>C (p.Ser687=)
c.1996+41596A>C (n.1996+41596A>C)
c.2034A>C (p.Ser678=)
c.1908A>C (p.Ser636=)
c.1894+41596A>C (n.1894+41596A>C)
c.2319A>C (p.Ser773=)
c.1980A>C (p.Ser660=)
c.2136A>C (p.Ser712=)
c.1669+41596A>C (n.1669+41596A>C)
c.2043A>C (p.Ser681=)
c.1588+41596A>C (n.1588+41596A>C)
c.2316A>C (p.Ser772=)
c.2142A>C (p.Ser714=)
c.1995A>C (p.Ser665=)
c.2013A>C (p.Ser671=)
c.1863A>C (p.Ser621=)
c.2178A>C (p.Ser726=)
c.1818A>C (p.Ser606=)
c.1821A>C (p.Ser607=)
c.1498+41596A>C (n.1498+41596A>C)
c.1824A>C (p.Ser608=)
c.1740A>C (p.Ser580=)
c.1665A>C (p.Ser555=)
c.1893A>C (p.Ser631=)
c.1774+41596A>C (n.1774+41596A>C)
c.1974A>C (p.Ser658=)
c.1693+41596A>C (n.1693+41596A>C)
c.1696+41596A>C (n.1696+41596A>C)
c.1866A>C (p.Ser622=)
c.3711A>C (p.Ser1237=)
c.3960A>C (p.Ser1320=)
c.3867A>C (p.Ser1289=)
c.3864A>C (p.Ser1288=)
c.3807A>C (p.Ser1269=)
c.3795A>C (p.Ser1265=)
c.3777A>C (p.Ser1259=)
c.3714A>C (p.Ser1238=)
c.3687A>C (p.Ser1229=)
c.3669A>C (p.Ser1223=)
c.3654A>C (p.Ser1218=)
c.3639A>C (p.Ser1213=)
c.2217A>C (p.Ser739=)
c.2037A>C (p.Ser679=)
c.291A>C (p.Ser97=)
c.123A>C (p.Ser41=)
c.4047A>C (p.Ser1349=)
c.3684A>C (p.Ser1228=)
c.3645A>C (p.Ser1215=)
c.2214A>C (p.Ser738=)

Number of alleles fetched