Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018166G>ACA342132020HJVc.1192C>T (p.Pro398Ser)
c.514C>T (p.Pro172Ser)
c.853C>T (p.Pro285Ser)
 COSMIC
1g.146018166G>CCA342132023HJVc.1192C>G (p.Pro398Ala)
c.514C>G (p.Pro172Ala)
c.853C>G (p.Pro285Ala)
1g.146018166G>TCA342132035HJVc.1192C>A (p.Pro398Thr)
c.514C>A (p.Pro172Thr)
c.853C>A (p.Pro285Thr)
1g.146018167G>ACA1053980HJVc.1191C>T (p.Phe397=)
c.513C>T (p.Phe171=)
c.852C>T (p.Phe284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018167G>CCA29822906HJVc.1191C>G (p.Phe397Leu)
c.513C>G (p.Phe171Leu)
c.852C>G (p.Phe284Leu)
1g.146018167G=CA1198820861HJVc.1191C= (p.Phe397=)
c.513C= (p.Phe171=)
c.852C= (p.Phe284=)
1g.146018167G>TCA29822912HJVc.1191C>A (p.Phe397Leu)
c.513C>A (p.Phe171Leu)
c.852C>A (p.Phe284Leu)
1g.146018168A>CCA342132042HJVc.1190T>G (p.Phe397Cys)
c.512T>G (p.Phe171Cys)
c.851T>G (p.Phe284Cys)
1g.146018168A>GCA342132047HJVc.1190T>C (p.Phe397Ser)
c.512T>C (p.Phe171Ser)
c.851T>C (p.Phe284Ser)
1g.146018168A>TCA342132051HJVc.1190T>A (p.Phe397Tyr)
c.512T>A (p.Phe171Tyr)
c.851T>A (p.Phe284Tyr)
1g.146018169A>CCA342132053HJVc.1189T>G (p.Phe397Val)
c.511T>G (p.Phe171Val)
c.850T>G (p.Phe284Val)
1g.146018169A>GCA342132056HJVc.1189T>C (p.Phe397Leu)
c.511T>C (p.Phe171Leu)
c.850T>C (p.Phe284Leu)
1g.146018169A>TCA342132058HJVc.1189T>A (p.Phe397Ile)
c.511T>A (p.Phe171Ile)
c.850T>A (p.Phe284Ile)
1g.146018170G>ACA420250106HJVc.1188C>T (p.Leu396=)
c.510C>T (p.Leu170=)
c.849C>T (p.Leu283=)
1g.146018170G>CCA420250105HJVc.1188C>G (p.Leu396=)
c.510C>G (p.Leu170=)
c.849C>G (p.Leu283=)
 ClinVar dbSNP gnomAD v2
1g.146018170G=CA1198820862HJVc.1188C= (p.Leu396=)
c.510C= (p.Leu170=)
c.849C= (p.Leu283=)
1g.146018170G>TCA420250104HJVc.1188C>A (p.Leu396=)
c.510C>A (p.Leu170=)
c.849C>A (p.Leu283=)
1g.146018171A>CCA342132068HJVc.1187T>G (p.Leu396Arg)
c.509T>G (p.Leu170Arg)
c.848T>G (p.Leu283Arg)
1g.146018171A>GCA342132063HJVc.1187T>C (p.Leu396Pro)
c.509T>C (p.Leu170Pro)
c.848T>C (p.Leu283Pro)
1g.146018171A>TCA342132067HJVc.1187T>A (p.Leu396His)
c.509T>A (p.Leu170His)
c.848T>A (p.Leu283His)
1g.146018172G>ACA342132069HJVc.1186C>T (p.Leu396Phe)
c.508C>T (p.Leu170Phe)
c.847C>T (p.Leu283Phe)
 COSMIC
1g.146018172G>CCA342132071HJVc.1186C>G (p.Leu396Val)
c.508C>G (p.Leu170Val)
c.847C>G (p.Leu283Val)
1g.146018172G=CA1198820863HJVc.1186C= (p.Leu396=)
c.508C= (p.Leu170=)
c.847C= (p.Leu283=)
1g.146018172G>TCA342132074HJVc.1186C>A (p.Leu396Ile)
c.508C>A (p.Leu170Ile)
c.847C>A (p.Leu283Ile)
1g.146018172_146018173insTTCA888578428HJVc.1185_1186insAA (p.Leu396AsnfsTer17)
c.507_508insAA (p.Leu170AsnfsTer17)
c.846_847insAA (p.Leu283AsnfsTer17)
 dbSNP gnomAD v3 gnomAD v4
1g.146018173A>CCA342132079HJVc.1185T>G (p.His395Gln)
c.507T>G (p.His169Gln)
c.846T>G (p.His282Gln)
1g.146018173A>GCA420250110HJVc.1185T>C (p.His395=)
c.507T>C (p.His169=)
c.846T>C (p.His282=)
1g.146018173A>TCA342132081HJVc.1185T>A (p.His395Gln)
c.507T>A (p.His169Gln)
c.846T>A (p.His282Gln)
1g.146018174T>ACA29822913HJVc.1184A>T (p.His395Leu)
c.506A>T (p.His169Leu)
c.845A>T (p.His282Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.146018174T>CCA1053979HJVc.1184A>G (p.His395Arg)
c.506A>G (p.His169Arg)
c.845A>G (p.His282Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018174T>GCA29822914HJVc.1184A>C (p.His395Pro)
c.506A>C (p.His169Pro)
c.845A>C (p.His282Pro)
1g.146018174T=CA1198820864HJVc.1184A= (p.His395=)
c.506A= (p.His169=)
c.845A= (p.His282=)
1g.146018174_146018175delinsTGCA1198820865HJVc.1183_1184delinsCA (p.His395=)
c.505_506delinsCA (p.His169=)
c.844_845delinsCA (p.His282=)
1g.146018175delCA1053977HJVc.1183del (p.His395IlefsTer17)
c.505del (p.His169IlefsTer17)
c.844del (p.His282IlefsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018175G>ACA342132097HJVc.1183C>T (p.His395Tyr)
c.505C>T (p.His169Tyr)
c.844C>T (p.His282Tyr)
 gnomAD v4
1g.146018175G>CCA342132103HJVc.1183C>G (p.His395Asp)
c.505C>G (p.His169Asp)
c.844C>G (p.His282Asp)
1g.146018175G=CA1198820866HJVc.1183C= (p.His395=)
c.505C= (p.His169=)
c.844C= (p.His282=)
1g.146018175G>TCA342132109HJVc.1183C>A (p.His395Asn)
c.505C>A (p.His169Asn)
c.844C>A (p.His282Asn)
 dbSNP
1g.146018176C>ACA29822915HJVc.1182G>T (p.Leu394=)
c.504G>T (p.Leu168=)
c.843G>T (p.Leu281=)
1g.146018176C=CA1198820867HJVc.1182G= (p.Leu394=)
c.504G= (p.Leu168=)
c.843G= (p.Leu281=)
1g.146018176C>GCA29822936HJVc.1182G>C (p.Leu394=)
c.504G>C (p.Leu168=)
c.843G>C (p.Leu281=)
1g.146018176C>TCA1053978HJVc.1182G>A (p.Leu394=)
c.504G>A (p.Leu168=)
c.843G>A (p.Leu281=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018177A=CA1198820868HJVc.1181T= (p.Leu394=)
c.503T= (p.Leu168=)
c.842T= (p.Leu281=)
1g.146018177A>CCA29822942HJVc.1181T>G (p.Leu394Arg)
c.503T>G (p.Leu168Arg)
c.842T>G (p.Leu281Arg)
1g.146018177A>GCA1053976HJVc.1181T>C (p.Leu394Pro)
c.503T>C (p.Leu168Pro)
c.842T>C (p.Leu281Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018177A>TCA29822949HJVc.1181T>A (p.Leu394Gln)
c.503T>A (p.Leu168Gln)
c.842T>A (p.Leu281Gln)
 dbSNP gnomAD v4
1g.146018178G>ACA420250115HJVc.1180C>T (p.Leu394=)
c.502C>T (p.Leu168=)
c.841C>T (p.Leu281=)
1g.146018178G>CCA1053975HJVc.1180C>G (p.Leu394Val)
c.502C>G (p.Leu168Val)
c.841C>G (p.Leu281Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018178G=CA1198820869HJVc.1180C= (p.Leu394=)
c.502C= (p.Leu168=)
c.841C= (p.Leu281=)
1g.146018178G>TCA342132121HJVc.1180C>A (p.Leu394Met)
c.502C>A (p.Leu168Met)
c.841C>A (p.Leu281Met)
1g.146018179C>ACA342132125HJVc.1179G>T (p.Lys393Asn)
c.501G>T (p.Lys167Asn)
c.840G>T (p.Lys280Asn)
1g.146018179C>GCA342132128HJVc.1179G>C (p.Lys393Asn)
c.501G>C (p.Lys167Asn)
c.840G>C (p.Lys280Asn)
1g.146018179C>TCA420250116HJVc.1179G>A (p.Lys393=)
c.501G>A (p.Lys167=)
c.840G>A (p.Lys280=)
1g.146018180T>ACA29822974HJVc.1178A>T (p.Lys393Met)
c.500A>T (p.Lys167Met)
c.839A>T (p.Lys280Met)
1g.146018180T>CCA1053974HJVc.1178A>G (p.Lys393Arg)
c.500A>G (p.Lys167Arg)
c.839A>G (p.Lys280Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018180T>GCA29822994HJVc.1178A>C (p.Lys393Thr)
c.500A>C (p.Lys167Thr)
c.839A>C (p.Lys280Thr)
1g.146018180T=CA1198820870HJVc.1178A= (p.Lys393=)
c.500A= (p.Lys167=)
c.839A= (p.Lys280=)
1g.146018180_146018181delCA2647575222HJVc.1177_1178del (p.Lys393AlafsTer?)
c.499_500del (p.Lys167AlafsTer?)
c.838_839del (p.Lys280AlafsTer?)
 gnomAD v4
1g.146018181T>ACA342132144HJVc.1177A>T (p.Lys393Ter)
c.499A>T (p.Lys167Ter)
c.838A>T (p.Lys280Ter)
1g.146018181T>CCA342132145HJVc.1177A>G (p.Lys393Glu)
c.499A>G (p.Lys167Glu)
c.838A>G (p.Lys280Glu)
1g.146018181T>GCA342132146HJVc.1177A>C (p.Lys393Gln)
c.499A>C (p.Lys167Gln)
c.838A>C (p.Lys280Gln)
1g.146018182C>ACA342132147HJVc.1176G>T (p.Glu392Asp)
c.498G>T (p.Glu166Asp)
c.837G>T (p.Glu279Asp)
1g.146018182C>GCA342132149HJVc.1176G>C (p.Glu392Asp)
c.498G>C (p.Glu166Asp)
c.837G>C (p.Glu279Asp)
1g.146018182C>TCA420250120HJVc.1176G>A (p.Glu392=)
c.498G>A (p.Glu166=)
c.837G>A (p.Glu279=)
 ClinVar dbSNP
1g.146018183T>ACA342132155HJVc.1175A>T (p.Glu392Val)
c.497A>T (p.Glu166Val)
c.836A>T (p.Glu279Val)
1g.146018183T>CCA342132161HJVc.1175A>G (p.Glu392Gly)
c.497A>G (p.Glu166Gly)
c.836A>G (p.Glu279Gly)
 gnomAD v4
1g.146018183T>GCA342132163HJVc.1175A>C (p.Glu392Ala)
c.497A>C (p.Glu166Ala)
c.836A>C (p.Glu279Ala)
1g.146018183_146018185delCA2647575225HJVc.1173_1175del (p.Glu392del)
c.495_497del (p.Glu166del)
c.834_836del (p.Glu279del)
 gnomAD v4
1g.146018184C>ACA342132168HJVc.1174G>T (p.Glu392Ter)
c.496G>T (p.Glu166Ter)
c.835G>T (p.Glu279Ter)
1g.146018184C=CA1198820871HJVc.1174G= (p.Glu392=)
c.496G= (p.Glu166=)
c.835G= (p.Glu279=)
1g.146018184C>GCA342132177HJVc.1174G>C (p.Glu392Gln)
c.496G>C (p.Glu166Gln)
c.835G>C (p.Glu279Gln)
1g.146018184C>TCA342132178HJVc.1174G>A (p.Glu392Lys)
c.496G>A (p.Glu166Lys)
c.835G>A (p.Glu279Lys)
 dbSNP
1g.146018185T>ACA342132180HJVc.1173A>T (p.Leu391Phe)
c.495A>T (p.Leu165Phe)
c.834A>T (p.Leu278Phe)
1g.146018185T>CCA420250123HJVc.1173A>G (p.Leu391=)
c.495A>G (p.Leu165=)
c.834A>G (p.Leu278=)
 gnomAD v4
1g.146018185T>GCA342132182HJVc.1173A>C (p.Leu391Phe)
c.495A>C (p.Leu165Phe)
c.834A>C (p.Leu278Phe)
1g.146018186A>CCA342132187HJVc.1172T>G (p.Leu391Ter)
c.494T>G (p.Leu165Ter)
c.833T>G (p.Leu278Ter)
1g.146018186A>GCA342132191HJVc.1172T>C (p.Leu391Ser)
c.494T>C (p.Leu165Ser)
c.833T>C (p.Leu278Ser)
 gnomAD v4
1g.146018186A>TCA342132185HJVc.1172T>A (p.Leu391Ter)
c.494T>A (p.Leu165Ter)
c.833T>A (p.Leu278Ter)
1g.146018187A>CCA342132203HJVc.1171T>G (p.Leu391Val)
c.493T>G (p.Leu165Val)
c.832T>G (p.Leu278Val)
 gnomAD v4
1g.146018187A>GCA420250125HJVc.1171T>C (p.Leu391=)
c.493T>C (p.Leu165=)
c.832T>C (p.Leu278=)
1g.146018187A>TCA342132201HJVc.1171T>A (p.Leu391Ile)
c.493T>A (p.Leu165Ile)
c.832T>A (p.Leu278Ile)
1g.146018188G>ACA420250128HJVc.1170C>T (p.Asp390=)
c.492C>T (p.Asp164=)
c.831C>T (p.Asp277=)
1g.146018188G>CCA342132208HJVc.1170C>G (p.Asp390Glu)
c.492C>G (p.Asp164Glu)
c.831C>G (p.Asp277Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.146018188G=CA1198820872HJVc.1170C= (p.Asp390=)
c.492C= (p.Asp164=)
c.831C= (p.Asp277=)
1g.146018188G>TCA342132211HJVc.1170C>A (p.Asp390Glu)
c.492C>A (p.Asp164Glu)
c.831C>A (p.Asp277Glu)
1g.146018189T>ACA342132212HJVc.1169A>T (p.Asp390Val)
c.491A>T (p.Asp164Val)
c.830A>T (p.Asp277Val)
 gnomAD v4
1g.146018189T>CCA342132214HJVc.1169A>G (p.Asp390Gly)
c.491A>G (p.Asp164Gly)
c.830A>G (p.Asp277Gly)
 dbSNP
1g.146018189T>GCA342132226HJVc.1169A>C (p.Asp390Ala)
c.491A>C (p.Asp164Ala)
c.830A>C (p.Asp277Ala)
1g.146018190C>ACA342132230HJVc.1168G>T (p.Asp390Tyr)
c.490G>T (p.Asp164Tyr)
c.829G>T (p.Asp277Tyr)
1g.146018190C>GCA342132237HJVc.1168G>C (p.Asp390His)
c.490G>C (p.Asp164His)
c.829G>C (p.Asp277His)
1g.146018190C>TCA342132248HJVc.1168G>A (p.Asp390Asn)
c.490G>A (p.Asp164Asn)
c.829G>A (p.Asp277Asn)
1g.146018191T>ACA420250132HJVc.1167A>T (p.Pro389=)
c.489A>T (p.Pro163=)
c.828A>T (p.Pro276=)
1g.146018191T>CCA420250130HJVc.1167A>G (p.Pro389=)
c.489A>G (p.Pro163=)
c.828A>G (p.Pro276=)
1g.146018191T>GCA420250131HJVc.1167A>C (p.Pro389=)
c.489A>C (p.Pro163=)
c.828A>C (p.Pro276=)
1g.146018192G>ACA342132254HJVc.1166C>T (p.Pro389Leu)
c.488C>T (p.Pro163Leu)
c.827C>T (p.Pro276Leu)
1g.146018192G>CCA342132263HJVc.1166C>G (p.Pro389Arg)
c.488C>G (p.Pro163Arg)
c.827C>G (p.Pro276Arg)
1g.146018192G>TCA342132266HJVc.1166C>A (p.Pro389Gln)
c.488C>A (p.Pro163Gln)
c.827C>A (p.Pro276Gln)
1g.146018192_146018197delCA2647575226HJVc.1161_1166del (p.Phe387_Pro389delinsLeu)
c.483_488del (p.Phe161_Pro163delinsLeu)
c.822_827del (p.Phe274_Pro276delinsLeu)
 gnomAD v4
1g.146018193G>ACA342132270HJVc.1165C>T (p.Pro389Ser)
c.487C>T (p.Pro163Ser)
c.826C>T (p.Pro276Ser)
 gnomAD v4
1g.146018193G>CCA342132268HJVc.1165C>G (p.Pro389Ala)
c.487C>G (p.Pro163Ala)
c.826C>G (p.Pro276Ala)
1g.146018193G>TCA342132267HJVc.1165C>A (p.Pro389Thr)
c.487C>A (p.Pro163Thr)
c.826C>A (p.Pro276Thr)
1g.146018194C>ACA420250138HJVc.1164G>T (p.Leu388=)
c.486G>T (p.Leu162=)
c.825G>T (p.Leu275=)
1g.146018194C=CA1198820873HJVc.1164G= (p.Leu388=)
c.486G= (p.Leu162=)
c.825G= (p.Leu275=)
1g.146018194C>GCA420250139HJVc.1164G>C (p.Leu388=)
c.486G>C (p.Leu162=)
c.825G>C (p.Leu275=)
1g.146018194C>TCA420250137HJVc.1164G>A (p.Leu388=)
c.486G>A (p.Leu162=)
c.825G>A (p.Leu275=)
 ClinVar dbSNP
1g.146018195A>CCA342132273HJVc.1163T>G (p.Leu388Arg)
c.485T>G (p.Leu162Arg)
c.824T>G (p.Leu275Arg)
1g.146018195A>GCA342132281HJVc.1163T>C (p.Leu388Pro)
c.485T>C (p.Leu162Pro)
c.824T>C (p.Leu275Pro)
1g.146018195A>TCA342132290HJVc.1163T>A (p.Leu388Gln)
c.485T>A (p.Leu162Gln)
c.824T>A (p.Leu275Gln)
1g.146018196G>ACA420250143HJVc.1162C>T (p.Leu388=)
c.484C>T (p.Leu162=)
c.823C>T (p.Leu275=)
 ClinVar dbSNP gnomAD v4
1g.146018196G>CCA342132292HJVc.1162C>G (p.Leu388Val)
c.484C>G (p.Leu162Val)
c.823C>G (p.Leu275Val)
 dbSNP
1g.146018196G=CA1198820874HJVc.1162C= (p.Leu388=)
c.484C= (p.Leu162=)
c.823C= (p.Leu275=)
1g.146018196G>TCA342132294HJVc.1162C>A (p.Leu388Met)
c.484C>A (p.Leu162Met)
c.823C>A (p.Leu275Met)
1g.146018197G>ACA420250144HJVc.1161C>T (p.Phe387=)
c.483C>T (p.Phe161=)
c.822C>T (p.Phe274=)
 gnomAD v4
1g.146018197G>CCA342132296HJVc.1161C>G (p.Phe387Leu)
c.483C>G (p.Phe161Leu)
c.822C>G (p.Phe274Leu)
1g.146018197G>TCA342132298HJVc.1161C>A (p.Phe387Leu)
c.483C>A (p.Phe161Leu)
c.822C>A (p.Phe274Leu)
1g.146018198A=CA1198820875HJVc.1160T= (p.Phe387=)
c.482T= (p.Phe161=)
c.821T= (p.Phe274=)
1g.146018198A>CCA29823010HJVc.1160T>G (p.Phe387Cys)
c.482T>G (p.Phe161Cys)
c.821T>G (p.Phe274Cys)
1g.146018198A>GCA1053973HJVc.1160T>C (p.Phe387Ser)
c.482T>C (p.Phe161Ser)
c.821T>C (p.Phe274Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018198A>TCA29823014HJVc.1160T>A (p.Phe387Tyr)
c.482T>A (p.Phe161Tyr)
c.821T>A (p.Phe274Tyr)
1g.146018199A=CA1198820876HJVc.1159T= (p.Phe387=)
c.481T= (p.Phe161=)
c.820T= (p.Phe274=)
1g.146018199A>CCA342132312HJVc.1159T>G (p.Phe387Val)
c.481T>G (p.Phe161Val)
c.820T>G (p.Phe274Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018199A>GCA342132315HJVc.1159T>C (p.Phe387Leu)
c.481T>C (p.Phe161Leu)
c.820T>C (p.Phe274Leu)
1g.146018199A>TCA342132328HJVc.1159T>A (p.Phe387Ile)
c.481T>A (p.Phe161Ile)
c.820T>A (p.Phe274Ile)
1g.146018200G>ACA420250150HJVc.1158C>T (p.Ala386=)
c.480C>T (p.Ala160=)
c.819C>T (p.Ala273=)
1g.146018200G>CCA420250148HJVc.1158C>G (p.Ala386=)
c.480C>G (p.Ala160=)
c.819C>G (p.Ala273=)
1g.146018200G>TCA420250151HJVc.1158C>A (p.Ala386=)
c.480C>A (p.Ala160=)
c.819C>A (p.Ala273=)
1g.146018201G>ACA342132344HJVc.1157C>T (p.Ala386Val)
c.479C>T (p.Ala160Val)
c.818C>T (p.Ala273Val)
1g.146018201G>CCA342132339HJVc.1157C>G (p.Ala386Gly)
c.479C>G (p.Ala160Gly)
c.818C>G (p.Ala273Gly)
1g.146018201G>TCA342132333HJVc.1157C>A (p.Ala386Asp)
c.479C>A (p.Ala160Asp)
c.818C>A (p.Ala273Asp)
1g.146018202C>ACA342132379HJVc.1156G>T (p.Ala386Ser)
c.478G>T (p.Ala160Ser)
c.817G>T (p.Ala273Ser)
1g.146018202C=CA1198820877HJVc.1156G= (p.Ala386=)
c.478G= (p.Ala160=)
c.817G= (p.Ala273=)
1g.146018202C>GCA342132362HJVc.1156G>C (p.Ala386Pro)
c.478G>C (p.Ala160Pro)
c.817G>C (p.Ala273Pro)
1g.146018202C>TCA342132375HJVc.1156G>A (p.Ala386Thr)
c.478G>A (p.Ala160Thr)
c.817G>A (p.Ala273Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018203T>ACA420250154HJVc.1155A>T (p.Arg385=)
c.477A>T (p.Arg159=)
c.816A>T (p.Arg272=)
1g.146018203T>CCA420250153HJVc.1155A>G (p.Arg385=)
c.477A>G (p.Arg159=)
c.816A>G (p.Arg272=)
1g.146018203T>GCA420250155HJVc.1155A>C (p.Arg385=)
c.477A>C (p.Arg159=)
c.816A>C (p.Arg272=)
 dbSNP gnomAD v4
1g.146018203T=CA1198820878HJVc.1155A= (p.Arg385=)
c.477A= (p.Arg159=)
c.816A= (p.Arg272=)
1g.146018204C>ACA342132381HJVc.1154G>T (p.Arg385Leu)
c.476G>T (p.Arg159Leu)
c.815G>T (p.Arg272Leu)
1g.146018204C=CA1144106349HJVc.1154G= (p.Arg385=)
c.476G= (p.Arg159=)
c.815G= (p.Arg272=)
1g.146018204C>GCA342132383HJVc.1154G>C (p.Arg385Pro)
c.476G>C (p.Arg159Pro)
c.815G>C (p.Arg272Pro)
 gnomAD v4
1g.146018204C>TCA1053972HJVc.1154G>A (p.Arg385Gln)
c.476G>A (p.Arg159Gln)
c.815G>A (p.Arg272Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018205G>ACA1053970HJVc.1153C>T (p.Arg385Ter)
c.475C>T (p.Arg159Ter)
c.814C>T (p.Arg272Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018205G>CCA1053971HJVc.1153C>G (p.Arg385Gly)
c.475C>G (p.Arg159Gly)
c.814C>G (p.Arg272Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018205G=CA1198820879HJVc.1153C= (p.Arg385=)
c.475C= (p.Arg159=)
c.814C= (p.Arg272=)
1g.146018205G>TCA1053969HJVc.1153C>A (p.Arg385=)
c.475C>A (p.Arg159=)
c.814C>A (p.Arg272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018206G>ACA1053968HJVc.1152C>T (p.Ala384=)
c.474C>T (p.Ala158=)
c.813C>T (p.Ala271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018206G>CCA29823028HJVc.1152C>G (p.Ala384=)
c.474C>G (p.Ala158=)
c.813C>G (p.Ala271=)
1g.146018206G=CA1198820880HJVc.1152C= (p.Ala384=)
c.474C= (p.Ala158=)
c.813C= (p.Ala271=)
1g.146018206G>TCA29823037HJVc.1152C>A (p.Ala384=)
c.474C>A (p.Ala158=)
c.813C>A (p.Ala271=)
1g.146018207G>ACA342132394HJVc.1151C>T (p.Ala384Val)
c.473C>T (p.Ala158Val)
c.812C>T (p.Ala271Val)
 dbSNP gnomAD v4
1g.146018207G>CCA342132397HJVc.1151C>G (p.Ala384Gly)
c.473C>G (p.Ala158Gly)
c.812C>G (p.Ala271Gly)
1g.146018207G=CA1198820881HJVc.1151C= (p.Ala384=)
c.473C= (p.Ala158=)
c.812C= (p.Ala271=)
1g.146018207G>TCA342132399HJVc.1151C>A (p.Ala384Asp)
c.473C>A (p.Ala158Asp)
c.812C>A (p.Ala271Asp)
1g.146018208C>ACA342132407HJVc.1150G>T (p.Ala384Ser)
c.472G>T (p.Ala158Ser)
c.811G>T (p.Ala271Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.146018208C=CA1198820882HJVc.1150G= (p.Ala384=)
c.472G= (p.Ala158=)
c.811G= (p.Ala271=)
1g.146018208C>GCA342132401HJVc.1150G>C (p.Ala384Pro)
c.472G>C (p.Ala158Pro)
c.811G>C (p.Ala271Pro)
1g.146018208C>TCA342132404HJVc.1150G>A (p.Ala384Thr)
c.472G>A (p.Ala158Thr)
c.811G>A (p.Ala271Thr)
1g.146018209A=CA1198820883HJVc.1149T= (p.Asp383=)
c.471T= (p.Asp157=)
c.810T= (p.Asp270=)
1g.146018209A>CCA342132413HJVc.1149T>G (p.Asp383Glu)
c.471T>G (p.Asp157Glu)
c.810T>G (p.Asp270Glu)
1g.146018209A>GCA29823044HJVc.1149T>C (p.Asp383=)
c.471T>C (p.Asp157=)
c.810T>C (p.Asp270=)
 ClinVar dbSNP COSMIC
1g.146018209A>TCA342132414HJVc.1149T>A (p.Asp383Glu)
c.471T>A (p.Asp157Glu)
c.810T>A (p.Asp270Glu)
1g.146018210T>ACA342132417HJVc.1148A>T (p.Asp383Val)
c.470A>T (p.Asp157Val)
c.809A>T (p.Asp270Val)
1g.146018210T>CCA342132422HJVc.1148A>G (p.Asp383Gly)
c.470A>G (p.Asp157Gly)
c.809A>G (p.Asp270Gly)
1g.146018210T>GCA342132426HJVc.1148A>C (p.Asp383Ala)
c.470A>C (p.Asp157Ala)
c.809A>C (p.Asp270Ala)
1g.146018211C>ACA342132432HJVc.1147G>T (p.Asp383Tyr)
c.469G>T (p.Asp157Tyr)
c.808G>T (p.Asp270Tyr)
1g.146018211C>GCA342132434HJVc.1147G>C (p.Asp383His)
c.469G>C (p.Asp157His)
c.808G>C (p.Asp270His)
1g.146018211C>TCA342132435HJVc.1147G>A (p.Asp383Asn)
c.469G>A (p.Asp157Asn)
c.808G>A (p.Asp270Asn)
1g.146018212C>ACA342132436HJVc.1146G>T (p.Glu382Asp)
c.468G>T (p.Glu156Asp)
c.807G>T (p.Glu269Asp)
1g.146018212C>GCA342132437HJVc.1146G>C (p.Glu382Asp)
c.468G>C (p.Glu156Asp)
c.807G>C (p.Glu269Asp)
1g.146018212C>TCA420250160HJVc.1146G>A (p.Glu382=)
c.468G>A (p.Glu156=)
c.807G>A (p.Glu269=)
1g.146018213T>ACA29823056HJVc.1145A>T (p.Glu382Val)
c.467A>T (p.Glu156Val)
c.806A>T (p.Glu269Val)
1g.146018213T>CCA29823067HJVc.1145A>G (p.Glu382Gly)
c.467A>G (p.Glu156Gly)
c.806A>G (p.Glu269Gly)
1g.146018213T>GCA1053967HJVc.1145A>C (p.Glu382Ala)
c.467A>C (p.Glu156Ala)
c.806A>C (p.Glu269Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018213T=CA1142042613HJVc.1145A= (p.Glu382=)
c.467A= (p.Glu156=)
c.806A= (p.Glu269=)
1g.146018214C>ACA342132461HJVc.1144G>T (p.Glu382Ter)
c.466G>T (p.Glu156Ter)
c.805G>T (p.Glu269Ter)
1g.146018214C=CA1198820884HJVc.1144G= (p.Glu382=)
c.466G= (p.Glu156=)
c.805G= (p.Glu269=)
1g.146018214C>GCA342132463HJVc.1144G>C (p.Glu382Gln)
c.466G>C (p.Glu156Gln)
c.805G>C (p.Glu269Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.146018214C>TCA342132456HJVc.1144G>A (p.Glu382Lys)
c.466G>A (p.Glu156Lys)
c.805G>A (p.Glu269Lys)
 dbSNP gnomAD v4
1g.146018215C>ACA420250162HJVc.1143G>T (p.Leu381=)
c.465G>T (p.Leu155=)
c.804G>T (p.Leu268=)
1g.146018215C>GCA420250161HJVc.1143G>C (p.Leu381=)
c.465G>C (p.Leu155=)
c.804G>C (p.Leu268=)
1g.146018215C>TCA420250163HJVc.1143G>A (p.Leu381=)
c.465G>A (p.Leu155=)
c.804G>A (p.Leu268=)
 ClinVar gnomAD v4
1g.146018216A>CCA342132474HJVc.1142T>G (p.Leu381Arg)
c.464T>G (p.Leu155Arg)
c.803T>G (p.Leu268Arg)
 ClinVar gnomAD v4
1g.146018216A>GCA342132487HJVc.1142T>C (p.Leu381Pro)
c.464T>C (p.Leu155Pro)
c.803T>C (p.Leu268Pro)
1g.146018216A>TCA342132484HJVc.1142T>A (p.Leu381Gln)
c.464T>A (p.Leu155Gln)
c.803T>A (p.Leu268Gln)
1g.146018217G>ACA420250164HJVc.1141C>T (p.Leu381=)
c.463C>T (p.Leu155=)
c.802C>T (p.Leu268=)
1g.146018217G>CCA342132491HJVc.1141C>G (p.Leu381Val)
c.463C>G (p.Leu155Val)
c.802C>G (p.Leu268Val)
 dbSNP
1g.146018217G=CA1198820885HJVc.1141C= (p.Leu381=)
c.463C= (p.Leu155=)
c.802C= (p.Leu268=)
1g.146018217G>TCA342132495HJVc.1141C>A (p.Leu381Met)
c.463C>A (p.Leu155Met)
c.802C>A (p.Leu268Met)
 ClinVar dbSNP
1g.146018218T>ACA420250166HJVc.1140A>T (p.Ala380=)
c.462A>T (p.Ala154=)
c.801A>T (p.Ala267=)
1g.146018218T>CCA420250167HJVc.1140A>G (p.Ala380=)
c.462A>G (p.Ala154=)
c.801A>G (p.Ala267=)
1g.146018218T>GCA420250165HJVc.1140A>C (p.Ala380=)
c.462A>C (p.Ala154=)
c.801A>C (p.Ala267=)
1g.146018219G>ACA342132501HJVc.1139C>T (p.Ala380Val)
c.461C>T (p.Ala154Val)
c.800C>T (p.Ala267Val)
1g.146018219G>CCA342132510HJVc.1139C>G (p.Ala380Gly)
c.461C>G (p.Ala154Gly)
c.800C>G (p.Ala267Gly)
1g.146018219G>TCA342132512HJVc.1139C>A (p.Ala380Glu)
c.461C>A (p.Ala154Glu)
c.800C>A (p.Ala267Glu)
1g.146018220C>ACA342132523HJVc.1138G>T (p.Ala380Ser)
c.460G>T (p.Ala154Ser)
c.799G>T (p.Ala267Ser)
1g.146018220C>GCA342132531HJVc.1138G>C (p.Ala380Pro)
c.460G>C (p.Ala154Pro)
c.799G>C (p.Ala267Pro)
1g.146018220C>TCA342132534HJVc.1138G>A (p.Ala380Thr)
c.460G>A (p.Ala154Thr)
c.799G>A (p.Ala267Thr)
1g.146018221T>ACA420250170HJVc.1137A>T (p.Ala379=)
c.459A>T (p.Ala153=)
c.798A>T (p.Ala266=)
1g.146018221T>CCA420250169HJVc.1137A>G (p.Ala379=)
c.459A>G (p.Ala153=)
c.798A>G (p.Ala266=)
1g.146018221T>GCA420250168HJVc.1137A>C (p.Ala379=)
c.459A>C (p.Ala153=)
c.798A>C (p.Ala266=)
1g.146018222G>ACA29823087HJVc.1136C>T (p.Ala379Val)
c.458C>T (p.Ala153Val)
c.797C>T (p.Ala266Val)
 gnomAD v4
1g.146018222G>CCA29823101HJVc.1136C>G (p.Ala379Gly)
c.458C>G (p.Ala153Gly)
c.797C>G (p.Ala266Gly)
1g.146018222G=CA1198820886HJVc.1136C= (p.Ala379=)
c.458C= (p.Ala153=)
c.797C= (p.Ala266=)
1g.146018222G>TCA1053966HJVc.1136C>A (p.Ala379Glu)
c.458C>A (p.Ala153Glu)
c.797C>A (p.Ala266Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018223C>ACA342132576HJVc.1135G>T (p.Ala379Ser)
c.457G>T (p.Ala153Ser)
c.796G>T (p.Ala266Ser)
1g.146018223C>GCA342132554HJVc.1135G>C (p.Ala379Pro)
c.457G>C (p.Ala153Pro)
c.796G>C (p.Ala266Pro)
1g.146018223C>TCA342132558HJVc.1135G>A (p.Ala379Thr)
c.457G>A (p.Ala153Thr)
c.796G>A (p.Ala266Thr)
1g.146018224C>ACA342132582HJVc.1134G>T (p.Gln378His)
c.456G>T (p.Gln152His)
c.795G>T (p.Gln265His)
1g.146018224C>GCA342132586HJVc.1134G>C (p.Gln378His)
c.456G>C (p.Gln152His)
c.795G>C (p.Gln265His)
1g.146018224C>TCA420250171HJVc.1134G>A (p.Gln378=)
c.456G>A (p.Gln152=)
c.795G>A (p.Gln265=)
 ClinVar dbSNP
1g.146018225T>ACA342132589HJVc.1133A>T (p.Gln378Leu)
c.455A>T (p.Gln152Leu)
c.794A>T (p.Gln265Leu)
1g.146018225T>CCA342132591HJVc.1133A>G (p.Gln378Arg)
c.455A>G (p.Gln152Arg)
c.794A>G (p.Gln265Arg)
 gnomAD v4
1g.146018225T>GCA342132593HJVc.1133A>C (p.Gln378Pro)
c.455A>C (p.Gln152Pro)
c.794A>C (p.Gln265Pro)
1g.146018226G>ACA342132599HJVc.1132C>T (p.Gln378Ter)
c.454C>T (p.Gln152Ter)
c.793C>T (p.Gln265Ter)
1g.146018226G>CCA342132604HJVc.1132C>G (p.Gln378Glu)
c.454C>G (p.Gln152Glu)
c.793C>G (p.Gln265Glu)
1g.146018226G>TCA342132606HJVc.1132C>A (p.Gln378Lys)
c.454C>A (p.Gln152Lys)
c.793C>A (p.Gln265Lys)
1g.146018227A>CCA420250173HJVc.1131T>G (p.Ala377=)
c.453T>G (p.Ala151=)
c.792T>G (p.Ala264=)
1g.146018227A>GCA420250172HJVc.1131T>C (p.Ala377=)
c.453T>C (p.Ala151=)
c.792T>C (p.Ala264=)
1g.146018227A>TCA420250174HJVc.1131T>A (p.Ala377=)
c.453T>A (p.Ala151=)
c.792T>A (p.Ala264=)
1g.146018228G>ACA342132613HJVc.1130C>T (p.Ala377Val)
c.452C>T (p.Ala151Val)
c.791C>T (p.Ala264Val)
1g.146018228G>CCA342132615HJVc.1130C>G (p.Ala377Gly)
c.452C>G (p.Ala151Gly)
c.791C>G (p.Ala264Gly)
1g.146018228G>TCA342132626HJVc.1130C>A (p.Ala377Asp)
c.452C>A (p.Ala151Asp)
c.791C>A (p.Ala264Asp)
1g.146018229C>ACA342132676HJVc.1129G>T (p.Ala377Ser)
c.451G>T (p.Ala151Ser)
c.790G>T (p.Ala264Ser)
1g.146018229C=CA1198820887HJVc.1129G= (p.Ala377=)
c.451G= (p.Ala151=)
c.790G= (p.Ala264=)
1g.146018229C>GCA342132679HJVc.1129G>C (p.Ala377Pro)
c.451G>C (p.Ala151Pro)
c.790G>C (p.Ala264Pro)
1g.146018229C>TCA342132669HJVc.1129G>A (p.Ala377Thr)
c.451G>A (p.Ala151Thr)
c.790G>A (p.Ala264Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018230T>ACA420250177HJVc.1128A>T (p.Ala376=)
c.450A>T (p.Ala150=)
c.789A>T (p.Ala263=)
1g.146018230T>CCA420250175HJVc.1128A>G (p.Ala376=)
c.450A>G (p.Ala150=)
c.789A>G (p.Ala263=)
1g.146018230T>GCA420250176HJVc.1128A>C (p.Ala376=)
c.450A>C (p.Ala150=)
c.789A>C (p.Ala263=)
 dbSNP
1g.146018230T=CA1198820888HJVc.1128A= (p.Ala376=)
c.450A= (p.Ala150=)
c.789A= (p.Ala263=)
1g.146018231G>ACA342132685HJVc.1127C>T (p.Ala376Val)
c.449C>T (p.Ala150Val)
c.788C>T (p.Ala263Val)
1g.146018231G>CCA342132693HJVc.1127C>G (p.Ala376Gly)
c.449C>G (p.Ala150Gly)
c.788C>G (p.Ala263Gly)
1g.146018231G>TCA342132696HJVc.1127C>A (p.Ala376Glu)
c.449C>A (p.Ala150Glu)
c.788C>A (p.Ala263Glu)
 COSMIC
1g.146018232C>ACA342132699HJVc.1126G>T (p.Ala376Ser)
c.448G>T (p.Ala150Ser)
c.787G>T (p.Ala263Ser)
1g.146018232C>GCA342132702HJVc.1126G>C (p.Ala376Pro)
c.448G>C (p.Ala150Pro)
c.787G>C (p.Ala263Pro)
1g.146018232C>TCA342132704HJVc.1126G>A (p.Ala376Thr)
c.448G>A (p.Ala150Thr)
c.787G>A (p.Ala263Thr)
 gnomAD v4
1g.146018233C>ACA420250180HJVc.1125G>T (p.Val375=)
c.447G>T (p.Val149=)
c.786G>T (p.Val262=)
1g.146018233C>GCA420250179HJVc.1125G>C (p.Val375=)
c.447G>C (p.Val149=)
c.786G>C (p.Val262=)
1g.146018233C>TCA420250178HJVc.1125G>A (p.Val375=)
c.447G>A (p.Val149=)
c.786G>A (p.Val262=)
1g.146018234A>CCA342132722HJVc.1124T>G (p.Val375Gly)
c.446T>G (p.Val149Gly)
c.785T>G (p.Val262Gly)
1g.146018234A>GCA342132714HJVc.1124T>C (p.Val375Ala)
c.446T>C (p.Val149Ala)
c.785T>C (p.Val262Ala)
 dbSNP
1g.146018234A>TCA342132719HJVc.1124T>A (p.Val375Glu)
c.446T>A (p.Val149Glu)
c.785T>A (p.Val262Glu)
1g.146018235C>ACA342132725HJVc.1123G>T (p.Val375Leu)
c.445G>T (p.Val149Leu)
c.784G>T (p.Val262Leu)
1g.146018235C=CA1198820889HJVc.1123G= (p.Val375=)
c.445G= (p.Val149=)
c.784G= (p.Val262=)
1g.146018235C>GCA342132728HJVc.1123G>C (p.Val375Leu)
c.445G>C (p.Val149Leu)
c.784G>C (p.Val262Leu)
1g.146018235C>TCA1053965HJVc.1123G>A (p.Val375Met)
c.445G>A (p.Val149Met)
c.784G>A (p.Val262Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018236G>ACA1053964HJVc.1122C>T (p.Thr374=)
c.444C>T (p.Thr148=)
c.783C>T (p.Thr261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018236G>CCA29823109HJVc.1122C>G (p.Thr374=)
c.444C>G (p.Thr148=)
c.783C>G (p.Thr261=)
1g.146018236G=CA1198820890HJVc.1122C= (p.Thr374=)
c.444C= (p.Thr148=)
c.783C= (p.Thr261=)
1g.146018236G>TCA29823132HJVc.1122C>A (p.Thr374=)
c.444C>A (p.Thr148=)
c.783C>A (p.Thr261=)
1g.146018237G>ACA342132743HJVc.1121C>T (p.Thr374Ile)
c.443C>T (p.Thr148Ile)
c.782C>T (p.Thr261Ile)
 gnomAD v4
1g.146018237G>CCA342132745HJVc.1121C>G (p.Thr374Ser)
c.443C>G (p.Thr148Ser)
c.782C>G (p.Thr261Ser)
1g.146018237G>TCA342132744HJVc.1121C>A (p.Thr374Asn)
c.443C>A (p.Thr148Asn)
c.782C>A (p.Thr261Asn)
1g.146018238T>ACA342132747HJVc.1120A>T (p.Thr374Ser)
c.442A>T (p.Thr148Ser)
c.781A>T (p.Thr261Ser)
1g.146018238T>CCA342132751HJVc.1120A>G (p.Thr374Ala)
c.442A>G (p.Thr148Ala)
c.781A>G (p.Thr261Ala)
 dbSNP gnomAD v4
1g.146018238T>GCA342132756HJVc.1120A>C (p.Thr374Pro)
c.442A>C (p.Thr148Pro)
c.781A>C (p.Thr261Pro)
1g.146018239A>CCA342132760HJVc.1119T>G (p.Phe373Leu)
c.441T>G (p.Phe147Leu)
c.780T>G (p.Phe260Leu)
1g.146018239A>GCA420250181HJVc.1119T>C (p.Phe373=)
c.441T>C (p.Phe147=)
c.780T>C (p.Phe260=)
1g.146018239A>TCA342132764HJVc.1119T>A (p.Phe373Leu)
c.441T>A (p.Phe147Leu)
c.780T>A (p.Phe260Leu)
1g.146018240A>CCA342132771HJVc.1118T>G (p.Phe373Cys)
c.440T>G (p.Phe147Cys)
c.779T>G (p.Phe260Cys)
 COSMIC
1g.146018240A>GCA342132777HJVc.1118T>C (p.Phe373Ser)
c.440T>C (p.Phe147Ser)
c.779T>C (p.Phe260Ser)
 gnomAD v4
1g.146018240A>TCA342132780HJVc.1118T>A (p.Phe373Tyr)
c.440T>A (p.Phe147Tyr)
c.779T>A (p.Phe260Tyr)
1g.146018241A>CCA342132785HJVc.1117T>G (p.Phe373Val)
c.439T>G (p.Phe147Val)
c.778T>G (p.Phe260Val)
1g.146018241A>GCA342132788HJVc.1117T>C (p.Phe373Leu)
c.439T>C (p.Phe147Leu)
c.778T>C (p.Phe260Leu)
1g.146018241A>TCA342132793HJVc.1117T>A (p.Phe373Ile)
c.439T>A (p.Phe147Ile)
c.778T>A (p.Phe260Ile)
1g.146018242G>ACA420250182HJVc.1116C>T (p.Asn372=)
c.438C>T (p.Asn146=)
c.777C>T (p.Asn259=)
 gnomAD v4
1g.146018242G>CCA342132807HJVc.1116C>G (p.Asn372Lys)
c.438C>G (p.Asn146Lys)
c.777C>G (p.Asn259Lys)
1g.146018242G=CA1198820891HJVc.1116C= (p.Asn372=)
c.438C= (p.Asn146=)
c.777C= (p.Asn259=)
1g.146018242G>TCA342132811HJVc.1116C>A (p.Asn372Lys)
c.438C>A (p.Asn146Lys)
c.777C>A (p.Asn259Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.146018243T>ACA29823152HJVc.1115A>T (p.Asn372Ile)
c.437A>T (p.Asn146Ile)
c.776A>T (p.Asn259Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018243T>CCA342132829HJVc.1115A>G (p.Asn372Ser)
c.437A>G (p.Asn146Ser)
c.776A>G (p.Asn259Ser)
1g.146018243T>GCA342132816HJVc.1115A>C (p.Asn372Thr)
c.437A>C (p.Asn146Thr)
c.776A>C (p.Asn259Thr)
1g.146018243T=CA1142408288HJVc.1115A= (p.Asn372=)
c.437A= (p.Asn146=)
c.776A= (p.Asn259=)
1g.146018244T>ACA29823180HJVc.1114A>T (p.Asn372Tyr)
c.436A>T (p.Asn146Tyr)
c.775A>T (p.Asn259Tyr)
1g.146018244T>CCA1053962HJVc.1114A>G (p.Asn372Asp)
c.436A>G (p.Asn146Asp)
c.775A>G (p.Asn259Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018244T>GCA1053963HJVc.1114A>C (p.Asn372His)
c.436A>C (p.Asn146His)
c.775A>C (p.Asn259His)
 dbSNP ExAC
1g.146018244T=CA1198820892HJVc.1114A= (p.Asn372=)
c.436A= (p.Asn146=)
c.775A= (p.Asn259=)
1g.146018245G>ACA10608057HJVc.1113C>T (p.Pro371=)
c.435C>T (p.Pro145=)
c.774C>T (p.Pro258=)
 ClinVar dbSNP
1g.146018245G>CCA420250184HJVc.1113C>G (p.Pro371=)
c.435C>G (p.Pro145=)
c.774C>G (p.Pro258=)
1g.146018245G=CA1198820893HJVc.1113C= (p.Pro371=)
c.435C= (p.Pro145=)
c.774C= (p.Pro258=)
1g.146018245G>TCA420250183HJVc.1113C>A (p.Pro371=)
c.435C>A (p.Pro145=)
c.774C>A (p.Pro258=)
 COSMIC
1g.146018246G>ACA1053961HJVc.1112C>T (p.Pro371Leu)
c.434C>T (p.Pro145Leu)
c.773C>T (p.Pro258Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018246G>CCA29823194HJVc.1112C>G (p.Pro371Arg)
c.434C>G (p.Pro145Arg)
c.773C>G (p.Pro258Arg)
1g.146018246G=CA1198820894HJVc.1112C= (p.Pro371=)
c.434C= (p.Pro145=)
c.773C= (p.Pro258=)
1g.146018246G>TCA29823198HJVc.1112C>A (p.Pro371His)
c.434C>A (p.Pro145His)
c.773C>A (p.Pro258His)
1g.146018247G>ACA342132868HJVc.1111C>T (p.Pro371Ser)
c.433C>T (p.Pro145Ser)
c.772C>T (p.Pro258Ser)
 gnomAD v4 COSMIC
1g.146018247G>CCA342132872HJVc.1111C>G (p.Pro371Ala)
c.433C>G (p.Pro145Ala)
c.772C>G (p.Pro258Ala)
1g.146018247G>TCA342132874HJVc.1111C>A (p.Pro371Thr)
c.433C>A (p.Pro145Thr)
c.772C>A (p.Pro258Thr)
1g.146018248A=CA1143819761HJVc.1110T= (p.Asp370=)
c.432T= (p.Asp144=)
c.771T= (p.Asp257=)
1g.146018248A>CCA29823206HJVc.1110T>G (p.Asp370Glu)
c.432T>G (p.Asp144Glu)
c.771T>G (p.Asp257Glu)
1g.146018248A>GCA1053960HJVc.1110T>C (p.Asp370=)
c.432T>C (p.Asp144=)
c.771T>C (p.Asp257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018248A>TCA29823223HJVc.1110T>A (p.Asp370Glu)
c.432T>A (p.Asp144Glu)
c.771T>A (p.Asp257Glu)
1g.146018249T>ACA342132879HJVc.1109A>T (p.Asp370Val)
c.431A>T (p.Asp144Val)
c.770A>T (p.Asp257Val)
 gnomAD v4
1g.146018249T>CCA342132880HJVc.1109A>G (p.Asp370Gly)
c.431A>G (p.Asp144Gly)
c.770A>G (p.Asp257Gly)
1g.146018249T>GCA342132886HJVc.1109A>C (p.Asp370Ala)
c.431A>C (p.Asp144Ala)
c.770A>C (p.Asp257Ala)
1g.146018250C>ACA29823231HJVc.1108G>T (p.Asp370Tyr)
c.430G>T (p.Asp144Tyr)
c.769G>T (p.Asp257Tyr)
1g.146018250C=CA1198820895HJVc.1108G= (p.Asp370=)
c.430G= (p.Asp144=)
c.769G= (p.Asp257=)
1g.146018250C>GCA29823235HJVc.1108G>C (p.Asp370His)
c.430G>C (p.Asp144His)
c.769G>C (p.Asp257His)
1g.146018250C>TCA1053959HJVc.1108G>A (p.Asp370Asn)
c.430G>A (p.Asp144Asn)
c.769G>A (p.Asp257Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018251A=CA1198820896HJVc.1107T= (p.Gly369=)
c.429T= (p.Gly143=)
c.768T= (p.Gly256=)
1g.146018251A>CCA420250186HJVc.1107T>G (p.Gly369=)
c.429T>G (p.Gly143=)
c.768T>G (p.Gly256=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018251A>GCA420250185HJVc.1107T>C (p.Gly369=)
c.429T>C (p.Gly143=)
c.768T>C (p.Gly256=)
1g.146018251A>TCA420250187HJVc.1107T>A (p.Gly369=)
c.429T>A (p.Gly143=)
c.768T>A (p.Gly256=)
1g.146018252C>ACA342132897HJVc.1106G>T (p.Gly369Val)
c.428G>T (p.Gly143Val)
c.767G>T (p.Gly256Val)
1g.146018252C>GCA342132895HJVc.1106G>C (p.Gly369Ala)
c.428G>C (p.Gly143Ala)
c.767G>C (p.Gly256Ala)
1g.146018252C>TCA342132896HJVc.1106G>A (p.Gly369Asp)
c.428G>A (p.Gly143Asp)
c.767G>A (p.Gly256Asp)
1g.146018253C>ACA342132898HJVc.1105G>T (p.Gly369Cys)
c.427G>T (p.Gly143Cys)
c.766G>T (p.Gly256Cys)
1g.146018253C>GCA342132899HJVc.1105G>C (p.Gly369Arg)
c.427G>C (p.Gly143Arg)
c.766G>C (p.Gly256Arg)
1g.146018253C>TCA342132901HJVc.1105G>A (p.Gly369Ser)
c.427G>A (p.Gly143Ser)
c.766G>A (p.Gly256Ser)
1g.146018254A>CCA420250188HJVc.1104T>G (p.Ser368=)
c.426T>G (p.Ser142=)
c.765T>G (p.Ser255=)
1g.146018254A>GCA420250189HJVc.1104T>C (p.Ser368=)
c.426T>C (p.Ser142=)
c.765T>C (p.Ser255=)
1g.146018254A>TCA420250190HJVc.1104T>A (p.Ser368=)
c.426T>A (p.Ser142=)
c.765T>A (p.Ser255=)
1g.146018255G>ACA342132905HJVc.1103C>T (p.Ser368Phe)
c.425C>T (p.Ser142Phe)
c.764C>T (p.Ser255Phe)
1g.146018255G>CCA342132913HJVc.1103C>G (p.Ser368Cys)
c.425C>G (p.Ser142Cys)
c.764C>G (p.Ser255Cys)
1g.146018255G>TCA342132916HJVc.1103C>A (p.Ser368Tyr)
c.425C>A (p.Ser142Tyr)
c.764C>A (p.Ser255Tyr)
1g.146018256A=CA1198820897HJVc.1102T= (p.Ser368=)
c.424T= (p.Ser142=)
c.763T= (p.Ser255=)
1g.146018256A>CCA342132919HJVc.1102T>G (p.Ser368Ala)
c.424T>G (p.Ser142Ala)
c.763T>G (p.Ser255Ala)
1g.146018256A>GCA342132921HJVc.1102T>C (p.Ser368Pro)
c.424T>C (p.Ser142Pro)
c.763T>C (p.Ser255Pro)
 dbSNP
1g.146018256A>TCA342132923HJVc.1102T>A (p.Ser368Thr)
c.424T>A (p.Ser142Thr)
c.763T>A (p.Ser255Thr)
1g.146018257A>CCA342132934HJVc.1101T>G (p.Ile367Met)
c.423T>G (p.Ile141Met)
c.762T>G (p.Ile254Met)
1g.146018257A>GCA420250198HJVc.1101T>C (p.Ile367=)
c.423T>C (p.Ile141=)
c.762T>C (p.Ile254=)
1g.146018257A>TCA420250199HJVc.1101T>A (p.Ile367=)
c.423T>A (p.Ile141=)
c.762T>A (p.Ile254=)
 ClinVar gnomAD v4
1g.146018258A=CA1198820898HJVc.1100T= (p.Ile367=)
c.422T= (p.Ile141=)
c.761T= (p.Ile254=)
1g.146018258A>CCA342132940HJVc.1100T>G (p.Ile367Ser)
c.422T>G (p.Ile141Ser)
c.761T>G (p.Ile254Ser)
1g.146018258A>GCA29823241HJVc.1100T>C (p.Ile367Thr)
c.422T>C (p.Ile141Thr)
c.761T>C (p.Ile254Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018258A>TCA342132947HJVc.1100T>A (p.Ile367Asn)
c.422T>A (p.Ile141Asn)
c.761T>A (p.Ile254Asn)
1g.146018259T>ACA342132961HJVc.1099A>T (p.Ile367Phe)
c.421A>T (p.Ile141Phe)
c.760A>T (p.Ile254Phe)
1g.146018259T>CCA342132959HJVc.1099A>G (p.Ile367Val)
c.421A>G (p.Ile141Val)
c.760A>G (p.Ile254Val)
1g.146018259T>GCA342132960HJVc.1099A>C (p.Ile367Leu)
c.421A>C (p.Ile141Leu)
c.760A>C (p.Ile254Leu)
1g.146018260T>ACA342132962HJVc.1098A>T (p.Leu366Phe)
c.420A>T (p.Leu140Phe)
c.759A>T (p.Leu253Phe)
1g.146018260T>CCA420250207HJVc.1098A>G (p.Leu366=)
c.420A>G (p.Leu140=)
c.759A>G (p.Leu253=)
 COSMIC
1g.146018260T>GCA342132964HJVc.1098A>C (p.Leu366Phe)
c.420A>C (p.Leu140Phe)
c.759A>C (p.Leu253Phe)
1g.146018261A=CA1198820899HJVc.1097T= (p.Leu366=)
c.419T= (p.Leu140=)
c.758T= (p.Leu253=)
1g.146018261A>CCA342132966HJVc.1097T>G (p.Leu366Ter)
c.419T>G (p.Leu140Ter)
c.758T>G (p.Leu253Ter)
1g.146018261A>GCA342132967HJVc.1097T>C (p.Leu366Ser)
c.419T>C (p.Leu140Ser)
c.758T>C (p.Leu253Ser)
1g.146018261A>TCA342132968HJVc.1097T>A (p.Leu366Ter)
c.419T>A (p.Leu140Ter)
c.758T>A (p.Leu253Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018262A>CCA342132969HJVc.1096T>G (p.Leu366Val)
c.418T>G (p.Leu140Val)
c.757T>G (p.Leu253Val)
1g.146018262A>GCA420250216HJVc.1096T>C (p.Leu366=)
c.418T>C (p.Leu140=)
c.757T>C (p.Leu253=)
1g.146018262A>TCA342132970HJVc.1096T>A (p.Leu366Ile)
c.418T>A (p.Leu140Ile)
c.757T>A (p.Leu253Ile)
1g.146018263A>CCA420250221HJVc.1095T>G (p.Val365=)
c.417T>G (p.Val139=)
c.756T>G (p.Val252=)
1g.146018263A>GCA420250219HJVc.1095T>C (p.Val365=)
c.417T>C (p.Val139=)
c.756T>C (p.Val252=)
1g.146018263A>TCA420250222HJVc.1095T>A (p.Val365=)
c.417T>A (p.Val139=)
c.756T>A (p.Val252=)
1g.146018264A>CCA342132990HJVc.1094T>G (p.Val365Gly)
c.416T>G (p.Val139Gly)
c.755T>G (p.Val252Gly)
1g.146018264A>GCA342132974HJVc.1094T>C (p.Val365Ala)
c.416T>C (p.Val139Ala)
c.755T>C (p.Val252Ala)
1g.146018264A>TCA342132985HJVc.1094T>A (p.Val365Asp)
c.416T>A (p.Val139Asp)
c.755T>A (p.Val252Asp)
1g.146018264_146018265delinsACCA1198820900HJVc.1093_1094delinsGT (p.Val365=)
c.415_416delinsGT (p.Val139=)
c.754_755delinsGT (p.Val252=)
1g.146018265delCA888578683HJVc.1093del (p.Val365PhefsTer2)
c.415del (p.Val139PhefsTer2)
c.754del (p.Val252PhefsTer2)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018265C>ACA342132995HJVc.1093G>T (p.Val365Phe)
c.415G>T (p.Val139Phe)
c.754G>T (p.Val252Phe)
1g.146018265C>GCA342133006HJVc.1093G>C (p.Val365Leu)
c.415G>C (p.Val139Leu)
c.754G>C (p.Val252Leu)
1g.146018265C>TCA342133010HJVc.1093G>A (p.Val365Ile)
c.415G>A (p.Val139Ile)
c.754G>A (p.Val252Ile)
 gnomAD v4
1g.146018266A>CCA342133012HJVc.1092T>G (p.Asp364Glu)
c.414T>G (p.Asp138Glu)
c.753T>G (p.Asp251Glu)
1g.146018266A>GCA420250229HJVc.1092T>C (p.Asp364=)
c.414T>C (p.Asp138=)
c.753T>C (p.Asp251=)
 COSMIC
1g.146018266A>TCA342133018HJVc.1092T>A (p.Asp364Glu)
c.414T>A (p.Asp138Glu)
c.753T>A (p.Asp251Glu)

Number of alleles fetched