Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11422722G>ACA305327181ODAD3c.1256C>T (p.Ser419Leu)
c.683C>T (p.Ser228Leu)
c.1076C>T (p.Ser359Leu)
c.*1175C>T (n.*1175C>T)
c.1094C>T (p.Ser365Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422722G>CCA404120082ODAD3c.1256C>G (p.Ser419Trp)
c.683C>G (p.Ser228Trp)
c.1076C>G (p.Ser359Trp)
c.*1175C>G (n.*1175C>G)
c.1094C>G (p.Ser365Trp)
19g.11422722G=CA2322924990ODAD3c.1256C= (p.Ser419=)
c.683C= (p.Ser228=)
c.1076C= (p.Ser359=)
c.*1175C= (n.*1175C=)
c.1094C= (p.Ser365=)
19g.11422722G>TCA170853ODAD3c.1256C>A (p.Ser419Ter)
c.683C>A (p.Ser228Ter)
c.1076C>A (p.Ser359Ter)
c.*1175C>A (n.*1175C>A)
c.1094C>A (p.Ser365Ter)
ClinVar dbSNP gnomAD v4
19g.11422723A>CCA404120088ODAD3c.1255T>G (p.Ser419Ala)
c.682T>G (p.Ser228Ala)
c.1075T>G (p.Ser359Ala)
c.*1174T>G (n.*1174T>G)
c.1093T>G (p.Ser365Ala)
19g.11422723A>GCA404120087ODAD3c.1255T>C (p.Ser419Pro)
c.682T>C (p.Ser228Pro)
c.1075T>C (p.Ser359Pro)
c.*1174T>C (n.*1174T>C)
c.1093T>C (p.Ser365Pro)
19g.11422723A>TCA404120085ODAD3c.1255T>A (p.Ser419Thr)
c.682T>A (p.Ser228Thr)
c.1075T>A (p.Ser359Thr)
c.*1174T>A (n.*1174T>A)
c.1093T>A (p.Ser365Thr)
19g.11422724G>ACA9212078ODAD3c.1254C>T (p.Tyr418=)
c.681C>T (p.Tyr227=)
c.1074C>T (p.Tyr358=)
c.*1173C>T (n.*1173C>T)
c.1092C>T (p.Tyr364=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422724G>CCA404120093ODAD3c.1254C>G (p.Tyr418Ter)
c.681C>G (p.Tyr227Ter)
c.1074C>G (p.Tyr358Ter)
c.*1173C>G (n.*1173C>G)
c.1092C>G (p.Tyr364Ter)
19g.11422724G=CA2322924991ODAD3c.1254C= (p.Tyr418=)
c.681C= (p.Tyr227=)
c.1074C= (p.Tyr358=)
c.*1173C= (n.*1173C=)
c.1092C= (p.Tyr364=)
19g.11422724G>TCA404120091ODAD3c.1254C>A (p.Tyr418Ter)
c.681C>A (p.Tyr227Ter)
c.1074C>A (p.Tyr358Ter)
c.*1173C>A (n.*1173C>A)
c.1092C>A (p.Tyr364Ter)
gnomAD v4
19g.11422725T>ACA404120094ODAD3c.1253A>T (p.Tyr418Phe)
c.680A>T (p.Tyr227Phe)
c.1073A>T (p.Tyr358Phe)
c.*1172A>T (n.*1172A>T)
c.1091A>T (p.Tyr364Phe)
19g.11422725T>CCA404120095ODAD3c.1253A>G (p.Tyr418Cys)
c.680A>G (p.Tyr227Cys)
c.1073A>G (p.Tyr358Cys)
c.*1172A>G (n.*1172A>G)
c.1091A>G (p.Tyr364Cys)
19g.11422725T>GCA404120096ODAD3c.1253A>C (p.Tyr418Ser)
c.680A>C (p.Tyr227Ser)
c.1073A>C (p.Tyr358Ser)
c.*1172A>C (n.*1172A>C)
c.1091A>C (p.Tyr364Ser)
19g.11422726A>CCA404120097ODAD3c.1252T>G (p.Tyr418Asp)
c.679T>G (p.Tyr227Asp)
c.1072T>G (p.Tyr358Asp)
c.*1171T>G (n.*1171T>G)
c.1090T>G (p.Tyr364Asp)
19g.11422726A>GCA404120099ODAD3c.1252T>C (p.Tyr418His)
c.679T>C (p.Tyr227His)
c.1072T>C (p.Tyr358His)
c.*1171T>C (n.*1171T>C)
c.1090T>C (p.Tyr364His)
19g.11422726A>TCA404120101ODAD3c.1252T>A (p.Tyr418Asn)
c.679T>A (p.Tyr227Asn)
c.1072T>A (p.Tyr358Asn)
c.*1171T>A (n.*1171T>A)
c.1090T>A (p.Tyr364Asn)
19g.11422727C>ACA404120103ODAD3c.1251G>T (p.Lys417Asn)
c.678G>T (p.Lys226Asn)
c.1071G>T (p.Lys357Asn)
c.*1170G>T (n.*1170G>T)
c.1089G>T (p.Lys363Asn)
19g.11422727C>GCA404120104ODAD3c.1251G>C (p.Lys417Asn)
c.678G>C (p.Lys226Asn)
c.1071G>C (p.Lys357Asn)
c.*1170G>C (n.*1170G>C)
c.1089G>C (p.Lys363Asn)
19g.11422727C>TCA505749464ODAD3c.1251G>A (p.Lys417=)
c.678G>A (p.Lys226=)
c.1071G>A (p.Lys357=)
c.*1170G>A (n.*1170G>A)
c.1089G>A (p.Lys363=)
gnomAD v4
19g.11422728T>ACA404120106ODAD3c.1250A>T (p.Lys417Met)
c.677A>T (p.Lys226Met)
c.1070A>T (p.Lys357Met)
c.*1169A>T (n.*1169A>T)
c.1088A>T (p.Lys363Met)
19g.11422728T>CCA404120109ODAD3c.1250A>G (p.Lys417Arg)
c.677A>G (p.Lys226Arg)
c.1070A>G (p.Lys357Arg)
c.*1169A>G (n.*1169A>G)
c.1088A>G (p.Lys363Arg)
gnomAD v4
19g.11422728T>GCA404120111ODAD3c.1250A>C (p.Lys417Thr)
c.677A>C (p.Lys226Thr)
c.1070A>C (p.Lys357Thr)
c.*1169A>C (n.*1169A>C)
c.1088A>C (p.Lys363Thr)
19g.11422729T>ACA404120113ODAD3c.1249A>T (p.Lys417Ter)
c.676A>T (p.Lys226Ter)
c.1069A>T (p.Lys357Ter)
c.*1168A>T (n.*1168A>T)
c.1087A>T (p.Lys363Ter)
19g.11422729T>CCA404120115ODAD3c.1249A>G (p.Lys417Glu)
c.676A>G (p.Lys226Glu)
c.1069A>G (p.Lys357Glu)
c.*1168A>G (n.*1168A>G)
c.1087A>G (p.Lys363Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422729T>GCA404120116ODAD3c.1249A>C (p.Lys417Gln)
c.676A>C (p.Lys226Gln)
c.1069A>C (p.Lys357Gln)
c.*1168A>C (n.*1168A>C)
c.1087A>C (p.Lys363Gln)
gnomAD v4
19g.11422729T=CA2322924992ODAD3c.1249A= (p.Lys417=)
c.676A= (p.Lys226=)
c.1069A= (p.Lys357=)
c.*1168A= (n.*1168A=)
c.1087A= (p.Lys363=)
19g.11422730G>ACA505749465ODAD3c.1248C>T (p.Leu416=)
c.675C>T (p.Leu225=)
c.1068C>T (p.Leu356=)
c.*1167C>T (n.*1167C>T)
c.1086C>T (p.Leu362=)
dbSNP gnomAD v4
19g.11422730G>CCA505749466ODAD3c.1248C>G (p.Leu416=)
c.675C>G (p.Leu225=)
c.1068C>G (p.Leu356=)
c.*1167C>G (n.*1167C>G)
c.1086C>G (p.Leu362=)
19g.11422730G=CA2322924993ODAD3c.1248C= (p.Leu416=)
c.675C= (p.Leu225=)
c.1068C= (p.Leu356=)
c.*1167C= (n.*1167C=)
c.1086C= (p.Leu362=)
19g.11422730G>TCA505749467ODAD3c.1248C>A (p.Leu416=)
c.675C>A (p.Leu225=)
c.1068C>A (p.Leu356=)
c.*1167C>A (n.*1167C>A)
c.1086C>A (p.Leu362=)
gnomAD v4
19g.11422731A>CCA404120121ODAD3c.1247T>G (p.Leu416Arg)
c.674T>G (p.Leu225Arg)
c.1067T>G (p.Leu356Arg)
c.*1166T>G (n.*1166T>G)
c.1085T>G (p.Leu362Arg)
19g.11422731A>GCA404120119ODAD3c.1247T>C (p.Leu416Pro)
c.674T>C (p.Leu225Pro)
c.1067T>C (p.Leu356Pro)
c.*1166T>C (n.*1166T>C)
c.1085T>C (p.Leu362Pro)
19g.11422731A>TCA404120118ODAD3c.1247T>A (p.Leu416His)
c.674T>A (p.Leu225His)
c.1067T>A (p.Leu356His)
c.*1166T>A (n.*1166T>A)
c.1085T>A (p.Leu362His)
19g.11422732G>ACA305327191ODAD3c.1246C>T (p.Leu416Phe)
c.673C>T (p.Leu225Phe)
c.1066C>T (p.Leu356Phe)
c.*1165C>T (n.*1165C>T)
c.1084C>T (p.Leu362Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11422732G>CCA404120124ODAD3c.1246C>G (p.Leu416Val)
c.673C>G (p.Leu225Val)
c.1066C>G (p.Leu356Val)
c.*1165C>G (n.*1165C>G)
c.1084C>G (p.Leu362Val)
19g.11422732G=CA2322924994ODAD3c.1246C= (p.Leu416=)
c.673C= (p.Leu225=)
c.1066C= (p.Leu356=)
c.*1165C= (n.*1165C=)
c.1084C= (p.Leu362=)
19g.11422732G>TCA404120125ODAD3c.1246C>A (p.Leu416Ile)
c.673C>A (p.Leu225Ile)
c.1066C>A (p.Leu356Ile)
c.*1165C>A (n.*1165C>A)
c.1084C>A (p.Leu362Ile)
gnomAD v4
19g.11422733G>ACA9212079ODAD3c.1245C>T (p.Asp415=)
c.672C>T (p.Asp224=)
c.1065C>T (p.Asp355=)
c.*1164C>T (n.*1164C>T)
c.1083C>T (p.Asp361=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422733G>CCA404120128ODAD3c.1245C>G (p.Asp415Glu)
c.672C>G (p.Asp224Glu)
c.1065C>G (p.Asp355Glu)
c.*1164C>G (n.*1164C>G)
c.1083C>G (p.Asp361Glu)
19g.11422733G=CA2322924995ODAD3c.1245C= (p.Asp415=)
c.672C= (p.Asp224=)
c.1065C= (p.Asp355=)
c.*1164C= (n.*1164C=)
c.1083C= (p.Asp361=)
19g.11422733G>TCA404120130ODAD3c.1245C>A (p.Asp415Glu)
c.672C>A (p.Asp224Glu)
c.1065C>A (p.Asp355Glu)
c.*1164C>A (n.*1164C>A)
c.1083C>A (p.Asp361Glu)
19g.11422734T>ACA404120132ODAD3c.1244A>T (p.Asp415Val)
c.671A>T (p.Asp224Val)
c.1064A>T (p.Asp355Val)
c.*1163A>T (n.*1163A>T)
c.1082A>T (p.Asp361Val)
19g.11422734T>CCA404120133ODAD3c.1244A>G (p.Asp415Gly)
c.671A>G (p.Asp224Gly)
c.1064A>G (p.Asp355Gly)
c.*1163A>G (n.*1163A>G)
c.1082A>G (p.Asp361Gly)
19g.11422734T>GCA404120135ODAD3c.1244A>C (p.Asp415Ala)
c.671A>C (p.Asp224Ala)
c.1064A>C (p.Asp355Ala)
c.*1163A>C (n.*1163A>C)
c.1082A>C (p.Asp361Ala)
19g.11422735C>ACA404120136ODAD3c.1243G>T (p.Asp415Tyr)
c.670G>T (p.Asp224Tyr)
c.1063G>T (p.Asp355Tyr)
c.*1162G>T (n.*1162G>T)
c.1081G>T (p.Asp361Tyr)
gnomAD v4
19g.11422735C>GCA404120138ODAD3c.1243G>C (p.Asp415His)
c.670G>C (p.Asp224His)
c.1063G>C (p.Asp355His)
c.*1162G>C (n.*1162G>C)
c.1081G>C (p.Asp361His)
19g.11422735C>TCA404120140ODAD3c.1243G>A (p.Asp415Asn)
c.670G>A (p.Asp224Asn)
c.1063G>A (p.Asp355Asn)
c.*1162G>A (n.*1162G>A)
c.1081G>A (p.Asp361Asn)
19g.11422736T>ACA404120141ODAD3c.1242A>T (p.Glu414Asp)
c.669A>T (p.Glu223Asp)
c.1062A>T (p.Glu354Asp)
c.*1161A>T (n.*1161A>T)
c.1080A>T (p.Glu360Asp)
19g.11422736T>CCA505749468ODAD3c.1242A>G (p.Glu414=)
c.669A>G (p.Glu223=)
c.1062A>G (p.Glu354=)
c.*1161A>G (n.*1161A>G)
c.1080A>G (p.Glu360=)
19g.11422736T>GCA404120142ODAD3c.1242A>C (p.Glu414Asp)
c.669A>C (p.Glu223Asp)
c.1062A>C (p.Glu354Asp)
c.*1161A>C (n.*1161A>C)
c.1080A>C (p.Glu360Asp)
19g.11422737T>ACA404120146ODAD3c.1241A>T (p.Glu414Val)
c.668A>T (p.Glu223Val)
c.1061A>T (p.Glu354Val)
c.*1160A>T (n.*1160A>T)
c.1079A>T (p.Glu360Val)
19g.11422737T>CCA404120145ODAD3c.1241A>G (p.Glu414Gly)
c.668A>G (p.Glu223Gly)
c.1061A>G (p.Glu354Gly)
c.*1160A>G (n.*1160A>G)
c.1079A>G (p.Glu360Gly)
19g.11422737T>GCA404120143ODAD3c.1241A>C (p.Glu414Ala)
c.668A>C (p.Glu223Ala)
c.1061A>C (p.Glu354Ala)
c.*1160A>C (n.*1160A>C)
c.1079A>C (p.Glu360Ala)
19g.11422738C>ACA404120148ODAD3c.1240G>T (p.Glu414Ter)
c.667G>T (p.Glu223Ter)
c.1060G>T (p.Glu354Ter)
c.*1159G>T (n.*1159G>T)
c.1078G>T (p.Glu360Ter)
19g.11422738C=CA2322924996ODAD3c.1240G= (p.Glu414=)
c.667G= (p.Glu223=)
c.1060G= (p.Glu354=)
c.*1159G= (n.*1159G=)
c.1078G= (p.Glu360=)
19g.11422738C>GCA404120149ODAD3c.1240G>C (p.Glu414Gln)
c.667G>C (p.Glu223Gln)
c.1060G>C (p.Glu354Gln)
c.*1159G>C (n.*1159G>C)
c.1078G>C (p.Glu360Gln)
19g.11422738C>TCA9212080ODAD3c.1240G>A (p.Glu414Lys)
c.667G>A (p.Glu223Lys)
c.1060G>A (p.Glu354Lys)
c.*1159G>A (n.*1159G>A)
c.1078G>A (p.Glu360Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11422739C>ACA505749469ODAD3c.1239G>T (p.Leu413=)
c.666G>T (p.Leu222=)
c.1059G>T (p.Leu353=)
c.*1158G>T (n.*1158G>T)
c.1077G>T (p.Leu359=)
19g.11422739C=CA2322924997ODAD3c.1239G= (p.Leu413=)
c.666G= (p.Leu222=)
c.1059G= (p.Leu353=)
c.*1158G= (n.*1158G=)
c.1077G= (p.Leu359=)
19g.11422739C>GCA505749470ODAD3c.1239G>C (p.Leu413=)
c.666G>C (p.Leu222=)
c.1059G>C (p.Leu353=)
c.*1158G>C (n.*1158G>C)
c.1077G>C (p.Leu359=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422739C>TCA305327216ODAD3c.1239G>A (p.Leu413=)
c.666G>A (p.Leu222=)
c.1059G>A (p.Leu353=)
c.*1158G>A (n.*1158G>A)
c.1077G>A (p.Leu359=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422740A>CCA404120151ODAD3c.1238T>G (p.Leu413Arg)
c.665T>G (p.Leu222Arg)
c.1058T>G (p.Leu353Arg)
c.*1157T>G (n.*1157T>G)
c.1076T>G (p.Leu359Arg)
19g.11422740A>GCA404120152ODAD3c.1238T>C (p.Leu413Pro)
c.665T>C (p.Leu222Pro)
c.1058T>C (p.Leu353Pro)
c.*1157T>C (n.*1157T>C)
c.1076T>C (p.Leu359Pro)
gnomAD v4
19g.11422740A>TCA404120154ODAD3c.1238T>A (p.Leu413Gln)
c.665T>A (p.Leu222Gln)
c.1058T>A (p.Leu353Gln)
c.*1157T>A (n.*1157T>A)
c.1076T>A (p.Leu359Gln)
19g.11422741G>ACA505749471ODAD3c.1237C>T (p.Leu413=)
c.664C>T (p.Leu222=)
c.1057C>T (p.Leu353=)
c.*1156C>T (n.*1156C>T)
c.1075C>T (p.Leu359=)
19g.11422741G>CCA404120156ODAD3c.1237C>G (p.Leu413Val)
c.664C>G (p.Leu222Val)
c.1057C>G (p.Leu353Val)
c.*1156C>G (n.*1156C>G)
c.1075C>G (p.Leu359Val)
dbSNP gnomAD v2 gnomAD v4
19g.11422741G=CA2322924998ODAD3c.1237C= (p.Leu413=)
c.664C= (p.Leu222=)
c.1057C= (p.Leu353=)
c.*1156C= (n.*1156C=)
c.1075C= (p.Leu359=)
19g.11422741G>TCA404120158ODAD3c.1237C>A (p.Leu413Met)
c.664C>A (p.Leu222Met)
c.1057C>A (p.Leu353Met)
c.*1156C>A (n.*1156C>A)
c.1075C>A (p.Leu359Met)
19g.11422742C>ACA404120159ODAD3c.1236G>T (p.Glu412Asp)
c.663G>T (p.Glu221Asp)
c.1056G>T (p.Glu352Asp)
c.*1155G>T (n.*1155G>T)
c.1074G>T (p.Glu358Asp)
19g.11422742C=CA2322924999ODAD3c.1236G= (p.Glu412=)
c.663G= (p.Glu221=)
c.1056G= (p.Glu352=)
c.*1155G= (n.*1155G=)
c.1074G= (p.Glu358=)
19g.11422742C>GCA404120160ODAD3c.1236G>C (p.Glu412Asp)
c.663G>C (p.Glu221Asp)
c.1056G>C (p.Glu352Asp)
c.*1155G>C (n.*1155G>C)
c.1074G>C (p.Glu358Asp)
gnomAD v4
19g.11422742C>TCA505749472ODAD3c.1236G>A (p.Glu412=)
c.663G>A (p.Glu221=)
c.1056G>A (p.Glu352=)
c.*1155G>A (n.*1155G>A)
c.1074G>A (p.Glu358=)
dbSNP
19g.11422743T>ACA404120162ODAD3c.1235A>T (p.Glu412Val)
c.662A>T (p.Glu221Val)
c.1055A>T (p.Glu352Val)
c.*1154A>T (n.*1154A>T)
c.1073A>T (p.Glu358Val)
19g.11422743T>CCA404120164ODAD3c.1235A>G (p.Glu412Gly)
c.662A>G (p.Glu221Gly)
c.1055A>G (p.Glu352Gly)
c.*1154A>G (n.*1154A>G)
c.1073A>G (p.Glu358Gly)
19g.11422743T>GCA404120166ODAD3c.1235A>C (p.Glu412Ala)
c.662A>C (p.Glu221Ala)
c.1055A>C (p.Glu352Ala)
c.*1154A>C (n.*1154A>C)
c.1073A>C (p.Glu358Ala)
19g.11422744C>ACA404120171ODAD3c.1234G>T (p.Glu412Ter)
c.661G>T (p.Glu221Ter)
c.1054G>T (p.Glu352Ter)
c.*1153G>T (n.*1153G>T)
c.1072G>T (p.Glu358Ter)
19g.11422744C>GCA404120169ODAD3c.1234G>C (p.Glu412Gln)
c.661G>C (p.Glu221Gln)
c.1054G>C (p.Glu352Gln)
c.*1153G>C (n.*1153G>C)
c.1072G>C (p.Glu358Gln)
19g.11422744C>TCA404120167ODAD3c.1234G>A (p.Glu412Lys)
c.661G>A (p.Glu221Lys)
c.1054G>A (p.Glu352Lys)
c.*1153G>A (n.*1153G>A)
c.1072G>A (p.Glu358Lys)
gnomAD v4
19g.11422745C>ACA505749474ODAD3c.1233G>T (p.Arg411=)
c.660G>T (p.Arg220=)
c.1053G>T (p.Arg351=)
c.*1152G>T (n.*1152G>T)
c.1071G>T (p.Arg357=)
19g.11422745C>GCA505749475ODAD3c.1233G>C (p.Arg411=)
c.660G>C (p.Arg220=)
c.1053G>C (p.Arg351=)
c.*1152G>C (n.*1152G>C)
c.1071G>C (p.Arg357=)
19g.11422745C>TCA505749473ODAD3c.1233G>A (p.Arg411=)
c.660G>A (p.Arg220=)
c.1053G>A (p.Arg351=)
c.*1152G>A (n.*1152G>A)
c.1071G>A (p.Arg357=)
COSMIC
19g.11422746C>ACA404120172ODAD3c.1232G>T (p.Arg411Leu)
c.659G>T (p.Arg220Leu)
c.1052G>T (p.Arg351Leu)
c.*1151G>T (n.*1151G>T)
c.1070G>T (p.Arg357Leu)
19g.11422746C=CA2322925000ODAD3c.1232G= (p.Arg411=)
c.659G= (p.Arg220=)
c.1052G= (p.Arg351=)
c.*1151G= (n.*1151G=)
c.1070G= (p.Arg357=)
19g.11422746C>GCA404120173ODAD3c.1232G>C (p.Arg411Pro)
c.659G>C (p.Arg220Pro)
c.1052G>C (p.Arg351Pro)
c.*1151G>C (n.*1151G>C)
c.1070G>C (p.Arg357Pro)
19g.11422746C>TCA404120174ODAD3c.1232G>A (p.Arg411Gln)
c.659G>A (p.Arg220Gln)
c.1052G>A (p.Arg351Gln)
c.*1151G>A (n.*1151G>A)
c.1070G>A (p.Arg357Gln)
dbSNP gnomAD v2 gnomAD v4
19g.11422747G>ACA404120176ODAD3c.1231C>T (p.Arg411Trp)
c.658C>T (p.Arg220Trp)
c.1051C>T (p.Arg351Trp)
c.*1150C>T (n.*1150C>T)
c.1069C>T (p.Arg357Trp)
gnomAD v4
19g.11422747G>CCA404120177ODAD3c.1231C>G (p.Arg411Gly)
c.658C>G (p.Arg220Gly)
c.1051C>G (p.Arg351Gly)
c.*1150C>G (n.*1150C>G)
c.1069C>G (p.Arg357Gly)
19g.11422747G>TCA505749476ODAD3c.1231C>A (p.Arg411=)
c.658C>A (p.Arg220=)
c.1051C>A (p.Arg351=)
c.*1150C>A (n.*1150C>A)
c.1069C>A (p.Arg357=)
gnomAD v4
19g.11422748C>ACA404120179ODAD3c.1230G>T (p.Gln410His)
c.657G>T (p.Gln219His)
c.1050G>T (p.Gln350His)
c.*1149G>T (n.*1149G>T)
c.1068G>T (p.Gln356His)
19g.11422748C>GCA404120180ODAD3c.1230G>C (p.Gln410His)
c.657G>C (p.Gln219His)
c.1050G>C (p.Gln350His)
c.*1149G>C (n.*1149G>C)
c.1068G>C (p.Gln356His)
dbSNP
19g.11422748C>TCA505749477ODAD3c.1230G>A (p.Gln410=)
c.657G>A (p.Gln219=)
c.1050G>A (p.Gln350=)
c.*1149G>A (n.*1149G>A)
c.1068G>A (p.Gln356=)
gnomAD v4
19g.11422749T>ACA404120181ODAD3c.1229A>T (p.Gln410Leu)
c.656A>T (p.Gln219Leu)
c.1049A>T (p.Gln350Leu)
c.*1148A>T (n.*1148A>T)
c.1067A>T (p.Gln356Leu)
19g.11422749T>CCA404120182ODAD3c.1229A>G (p.Gln410Arg)
c.656A>G (p.Gln219Arg)
c.1049A>G (p.Gln350Arg)
c.*1148A>G (n.*1148A>G)
c.1067A>G (p.Gln356Arg)
19g.11422749T>GCA404120184ODAD3c.1229A>C (p.Gln410Pro)
c.656A>C (p.Gln219Pro)
c.1049A>C (p.Gln350Pro)
c.*1148A>C (n.*1148A>C)
c.1067A>C (p.Gln356Pro)
19g.11422750G>ACA404120186ODAD3c.1228C>T (p.Gln410Ter)
c.655C>T (p.Gln219Ter)
c.1048C>T (p.Gln350Ter)
c.*1147C>T (n.*1147C>T)
c.1066C>T (p.Gln356Ter)
19g.11422750G>CCA305327220ODAD3c.1228C>G (p.Gln410Glu)
c.655C>G (p.Gln219Glu)
c.1048C>G (p.Gln350Glu)
c.*1147C>G (n.*1147C>G)
c.1066C>G (p.Gln356Glu)
dbSNP
19g.11422750G=CA2322925001ODAD3c.1228C= (p.Gln410=)
c.655C= (p.Gln219=)
c.1048C= (p.Gln350=)
c.*1147C= (n.*1147C=)
c.1066C= (p.Gln356=)
19g.11422750G>TCA404120188ODAD3c.1228C>A (p.Gln410Lys)
c.655C>A (p.Gln219Lys)
c.1048C>A (p.Gln350Lys)
c.*1147C>A (n.*1147C>A)
c.1066C>A (p.Gln356Lys)
gnomAD v4
19g.11422751C>ACA505749478ODAD3c.1227G>T (p.Leu409=)
c.654G>T (p.Leu218=)
c.1047G>T (p.Leu349=)
c.*1146G>T (n.*1146G>T)
c.1065G>T (p.Leu355=)
19g.11422751C>GCA505749480ODAD3c.1227G>C (p.Leu409=)
c.654G>C (p.Leu218=)
c.1047G>C (p.Leu349=)
c.*1146G>C (n.*1146G>C)
c.1065G>C (p.Leu355=)
19g.11422751C>TCA505749479ODAD3c.1227G>A (p.Leu409=)
c.654G>A (p.Leu218=)
c.1047G>A (p.Leu349=)
c.*1146G>A (n.*1146G>A)
c.1065G>A (p.Leu355=)
19g.11422752A>CCA404120191ODAD3c.1226T>G (p.Leu409Arg)
c.653T>G (p.Leu218Arg)
c.1046T>G (p.Leu349Arg)
c.*1145T>G (n.*1145T>G)
c.1064T>G (p.Leu355Arg)
gnomAD v4
19g.11422752A>GCA404120193ODAD3c.1226T>C (p.Leu409Pro)
c.653T>C (p.Leu218Pro)
c.1046T>C (p.Leu349Pro)
c.*1145T>C (n.*1145T>C)
c.1064T>C (p.Leu355Pro)
19g.11422752A>TCA404120190ODAD3c.1226T>A (p.Leu409Gln)
c.653T>A (p.Leu218Gln)
c.1046T>A (p.Leu349Gln)
c.*1145T>A (n.*1145T>A)
c.1064T>A (p.Leu355Gln)
19g.11422753G>ACA9212081ODAD3c.1225C>T (p.Leu409=)
c.652C>T (p.Leu218=)
c.1045C>T (p.Leu349=)
c.*1144C>T (n.*1144C>T)
c.1063C>T (p.Leu355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422753G>CCA404120197ODAD3c.1225C>G (p.Leu409Val)
c.652C>G (p.Leu218Val)
c.1045C>G (p.Leu349Val)
c.*1144C>G (n.*1144C>G)
c.1063C>G (p.Leu355Val)
19g.11422753G=CA2322925002ODAD3c.1225C= (p.Leu409=)
c.652C= (p.Leu218=)
c.1045C= (p.Leu349=)
c.*1144C= (n.*1144C=)
c.1063C= (p.Leu355=)
19g.11422753G>TCA404120195ODAD3c.1225C>A (p.Leu409Met)
c.652C>A (p.Leu218Met)
c.1045C>A (p.Leu349Met)
c.*1144C>A (n.*1144C>A)
c.1063C>A (p.Leu355Met)
19g.11422754T>ACA404120199ODAD3c.1224A>T (p.Gln408His)
c.651A>T (p.Gln217His)
c.1044A>T (p.Gln348His)
c.*1143A>T (n.*1143A>T)
c.1062A>T (p.Gln354His)
19g.11422754T>CCA505749481ODAD3c.1224A>G (p.Gln408=)
c.651A>G (p.Gln217=)
c.1044A>G (p.Gln348=)
c.*1143A>G (n.*1143A>G)
c.1062A>G (p.Gln354=)
19g.11422754T>GCA404120200ODAD3c.1224A>C (p.Gln408His)
c.651A>C (p.Gln217His)
c.1044A>C (p.Gln348His)
c.*1143A>C (n.*1143A>C)
c.1062A>C (p.Gln354His)
19g.11422755T>ACA404120201ODAD3c.1223A>T (p.Gln408Leu)
c.650A>T (p.Gln217Leu)
c.1043A>T (p.Gln348Leu)
c.*1142A>T (n.*1142A>T)
c.1061A>T (p.Gln354Leu)
19g.11422755T>CCA404120202ODAD3c.1223A>G (p.Gln408Arg)
c.650A>G (p.Gln217Arg)
c.1043A>G (p.Gln348Arg)
c.*1142A>G (n.*1142A>G)
c.1061A>G (p.Gln354Arg)
19g.11422755T>GCA404120203ODAD3c.1223A>C (p.Gln408Pro)
c.650A>C (p.Gln217Pro)
c.1043A>C (p.Gln348Pro)
c.*1142A>C (n.*1142A>C)
c.1061A>C (p.Gln354Pro)
19g.11422756G>ACA404120205ODAD3c.1222C>T (p.Gln408Ter)
c.649C>T (p.Gln217Ter)
c.1042C>T (p.Gln348Ter)
c.*1141C>T (n.*1141C>T)
c.1060C>T (p.Gln354Ter)
gnomAD v4
19g.11422756G>CCA404120207ODAD3c.1222C>G (p.Gln408Glu)
c.649C>G (p.Gln217Glu)
c.1042C>G (p.Gln348Glu)
c.*1141C>G (n.*1141C>G)
c.1060C>G (p.Gln354Glu)
gnomAD v4
19g.11422756G>TCA404120208ODAD3c.1222C>A (p.Gln408Lys)
c.649C>A (p.Gln217Lys)
c.1042C>A (p.Gln348Lys)
c.*1141C>A (n.*1141C>A)
c.1060C>A (p.Gln354Lys)
19g.11422757T>ACA404120210ODAD3c.1221A>T (p.Gln407His)
c.648A>T (p.Gln216His)
c.1041A>T (p.Gln347His)
c.*1140A>T (n.*1140A>T)
c.1059A>T (p.Gln353His)
19g.11422757T>CCA505749482ODAD3c.1221A>G (p.Gln407=)
c.648A>G (p.Gln216=)
c.1041A>G (p.Gln347=)
c.*1140A>G (n.*1140A>G)
c.1059A>G (p.Gln353=)
gnomAD v4
19g.11422757T>GCA404120211ODAD3c.1221A>C (p.Gln407His)
c.648A>C (p.Gln216His)
c.1041A>C (p.Gln347His)
c.*1140A>C (n.*1140A>C)
c.1059A>C (p.Gln353His)
19g.11422758T>ACA404120216ODAD3c.1220A>T (p.Gln407Leu)
c.647A>T (p.Gln216Leu)
c.1040A>T (p.Gln347Leu)
c.*1139A>T (n.*1139A>T)
c.1058A>T (p.Gln353Leu)
19g.11422758T>CCA404120214ODAD3c.1220A>G (p.Gln407Arg)
c.647A>G (p.Gln216Arg)
c.1040A>G (p.Gln347Arg)
c.*1139A>G (n.*1139A>G)
c.1058A>G (p.Gln353Arg)
19g.11422758T>GCA404120212ODAD3c.1220A>C (p.Gln407Pro)
c.647A>C (p.Gln216Pro)
c.1040A>C (p.Gln347Pro)
c.*1139A>C (n.*1139A>C)
c.1058A>C (p.Gln353Pro)
19g.11422759G>ACA404120218ODAD3c.1219C>T (p.Gln407Ter)
c.646C>T (p.Gln216Ter)
c.1039C>T (p.Gln347Ter)
c.*1138C>T (n.*1138C>T)
c.1057C>T (p.Gln353Ter)
19g.11422759G>CCA404120219ODAD3c.1219C>G (p.Gln407Glu)
c.646C>G (p.Gln216Glu)
c.1039C>G (p.Gln347Glu)
c.*1138C>G (n.*1138C>G)
c.1057C>G (p.Gln353Glu)
19g.11422759G>TCA404120221ODAD3c.1219C>A (p.Gln407Lys)
c.646C>A (p.Gln216Lys)
c.1039C>A (p.Gln347Lys)
c.*1138C>A (n.*1138C>A)
c.1057C>A (p.Gln353Lys)
gnomAD v4
19g.11422759_11422760delinsGCCA2322925003ODAD3c.1218_1219delinsGC (p.Lys406=)
c.645_646delinsGC (p.Lys215=)
c.1038_1039delinsGC (p.Lys346=)
c.*1137_*1138delinsGC (n.*1137_*1138delinsGC)
c.1056_1057delinsGC (p.Lys352=)
19g.11422760delCA9212082ODAD3c.1218del (p.Lys406AsnfsTer20)
c.645del (p.Lys215AsnfsTer20)
c.1038del (p.Lys346AsnfsTer20)
c.*1137del (n.*1137del)
c.1056del (p.Lys352AsnfsTer20)
dbSNP ExAC gnomAD v2
19g.11422760C>ACA404120223ODAD3c.1218G>T (p.Lys406Asn)
c.645G>T (p.Lys215Asn)
c.1038G>T (p.Lys346Asn)
c.*1137G>T (n.*1137G>T)
c.1056G>T (p.Lys352Asn)
19g.11422760C>GCA404120224ODAD3c.1218G>C (p.Lys406Asn)
c.645G>C (p.Lys215Asn)
c.1038G>C (p.Lys346Asn)
c.*1137G>C (n.*1137G>C)
c.1056G>C (p.Lys352Asn)
19g.11422760C>TCA505749483ODAD3c.1218G>A (p.Lys406=)
c.645G>A (p.Lys215=)
c.1038G>A (p.Lys346=)
c.*1137G>A (n.*1137G>A)
c.1056G>A (p.Lys352=)
19g.11422761T>ACA404120227ODAD3c.1217A>T (p.Lys406Met)
c.644A>T (p.Lys215Met)
c.1037A>T (p.Lys346Met)
c.*1136A>T (n.*1136A>T)
c.1055A>T (p.Lys352Met)
19g.11422761T>CCA404120229ODAD3c.1217A>G (p.Lys406Arg)
c.644A>G (p.Lys215Arg)
c.1037A>G (p.Lys346Arg)
c.*1136A>G (n.*1136A>G)
c.1055A>G (p.Lys352Arg)
gnomAD v4
19g.11422761T>GCA404120230ODAD3c.1217A>C (p.Lys406Thr)
c.644A>C (p.Lys215Thr)
c.1037A>C (p.Lys346Thr)
c.*1136A>C (n.*1136A>C)
c.1055A>C (p.Lys352Thr)
19g.11422762T>ACA404120232ODAD3c.1216A>T (p.Lys406Ter)
c.643A>T (p.Lys215Ter)
c.1036A>T (p.Lys346Ter)
c.*1135A>T (n.*1135A>T)
c.1054A>T (p.Lys352Ter)
19g.11422762T>CCA404120233ODAD3c.1216A>G (p.Lys406Glu)
c.643A>G (p.Lys215Glu)
c.1036A>G (p.Lys346Glu)
c.*1135A>G (n.*1135A>G)
c.1054A>G (p.Lys352Glu)
19g.11422762T>GCA404120235ODAD3c.1216A>C (p.Lys406Gln)
c.643A>C (p.Lys215Gln)
c.1036A>C (p.Lys346Gln)
c.*1135A>C (n.*1135A>C)
c.1054A>C (p.Lys352Gln)
19g.11422762_11422765delinsTCTCCA2322925004ODAD3c.1213_1216delinsGAGA (p.Glu405=)
c.640_643delinsGAGA (p.Glu214=)
c.1033_1036delinsGAGA (p.Glu345=)
c.*1132_*1135delinsGAGA (n.*1132_*1135delinsGAGA)
c.1051_1054delinsGAGA (p.Glu351=)
19g.11422763C>ACA404120237ODAD3c.1215G>T (p.Glu405Asp)
c.642G>T (p.Glu214Asp)
c.1035G>T (p.Glu345Asp)
c.*1134G>T (n.*1134G>T)
c.1053G>T (p.Glu351Asp)
dbSNP gnomAD v4
19g.11422763C=CA2322925005ODAD3c.1215G= (p.Glu405=)
c.642G= (p.Glu214=)
c.1035G= (p.Glu345=)
c.*1134G= (n.*1134G=)
c.1053G= (p.Glu351=)
19g.11422763C>GCA404120238ODAD3c.1215G>C (p.Glu405Asp)
c.642G>C (p.Glu214Asp)
c.1035G>C (p.Glu345Asp)
c.*1134G>C (n.*1134G>C)
c.1053G>C (p.Glu351Asp)
19g.11422763C>TCA505749484ODAD3c.1215G>A (p.Glu405=)
c.642G>A (p.Glu214=)
c.1035G>A (p.Glu345=)
c.*1134G>A (n.*1134G>A)
c.1053G>A (p.Glu351=)
gnomAD v4
19g.11422765_11422767delCA9212083ODAD3c.1213_1215del (p.Glu405del)
c.640_642del (p.Glu214del)
c.1033_1035del (p.Glu345del)
c.*1132_*1134del (n.*1132_*1134del)
c.1051_1053del (p.Glu351del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422764T>ACA404120240ODAD3c.1214A>T (p.Glu405Val)
c.641A>T (p.Glu214Val)
c.1034A>T (p.Glu345Val)
c.*1133A>T (n.*1133A>T)
c.1052A>T (p.Glu351Val)
19g.11422764T>CCA404120242ODAD3c.1214A>G (p.Glu405Gly)
c.641A>G (p.Glu214Gly)
c.1034A>G (p.Glu345Gly)
c.*1133A>G (n.*1133A>G)
c.1052A>G (p.Glu351Gly)
dbSNP
19g.11422764T>GCA404120244ODAD3c.1214A>C (p.Glu405Ala)
c.641A>C (p.Glu214Ala)
c.1034A>C (p.Glu345Ala)
c.*1133A>C (n.*1133A>C)
c.1052A>C (p.Glu351Ala)
19g.11422764T=CA2322925006ODAD3c.1214A= (p.Glu405=)
c.641A= (p.Glu214=)
c.1034A= (p.Glu345=)
c.*1133A= (n.*1133A=)
c.1052A= (p.Glu351=)
19g.11422765C>ACA404120246ODAD3c.1213G>T (p.Glu405Ter)
c.640G>T (p.Glu214Ter)
c.1033G>T (p.Glu345Ter)
c.*1132G>T (n.*1132G>T)
c.1051G>T (p.Glu351Ter)
19g.11422765C=CA2322925007ODAD3c.1213G= (p.Glu405=)
c.640G= (p.Glu214=)
c.1033G= (p.Glu345=)
c.*1132G= (n.*1132G=)
c.1051G= (p.Glu351=)
19g.11422765C>GCA404120247ODAD3c.1213G>C (p.Glu405Gln)
c.640G>C (p.Glu214Gln)
c.1033G>C (p.Glu345Gln)
c.*1132G>C (n.*1132G>C)
c.1051G>C (p.Glu351Gln)
19g.11422765C>TCA9212084ODAD3c.1213G>A (p.Glu405Lys)
c.640G>A (p.Glu214Lys)
c.1033G>A (p.Glu345Lys)
c.*1132G>A (n.*1132G>A)
c.1051G>A (p.Glu351Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422766C>ACA404120248ODAD3c.1212G>T (p.Gln404His)
c.639G>T (p.Gln213His)
c.1032G>T (p.Gln344His)
c.*1131G>T (n.*1131G>T)
c.1050G>T (p.Gln350His)
gnomAD v4
19g.11422766C>GCA404120249ODAD3c.1212G>C (p.Gln404His)
c.639G>C (p.Gln213His)
c.1032G>C (p.Gln344His)
c.*1131G>C (n.*1131G>C)
c.1050G>C (p.Gln350His)
19g.11422766C>TCA505749485ODAD3c.1212G>A (p.Gln404=)
c.639G>A (p.Gln213=)
c.1032G>A (p.Gln344=)
c.*1131G>A (n.*1131G>A)
c.1050G>A (p.Gln350=)
19g.11422767T>ACA404120251ODAD3c.1211A>T (p.Gln404Leu)
c.638A>T (p.Gln213Leu)
c.1031A>T (p.Gln344Leu)
c.*1130A>T (n.*1130A>T)
c.1049A>T (p.Gln350Leu)
19g.11422767T>CCA404120253ODAD3c.1211A>G (p.Gln404Arg)
c.638A>G (p.Gln213Arg)
c.1031A>G (p.Gln344Arg)
c.*1130A>G (n.*1130A>G)
c.1049A>G (p.Gln350Arg)
19g.11422767T>GCA404120254ODAD3c.1211A>C (p.Gln404Pro)
c.638A>C (p.Gln213Pro)
c.1031A>C (p.Gln344Pro)
c.*1130A>C (n.*1130A>C)
c.1049A>C (p.Gln350Pro)
19g.11422768G>ACA404120255ODAD3c.1210C>T (p.Gln404Ter)
c.637C>T (p.Gln213Ter)
c.1030C>T (p.Gln344Ter)
c.*1129C>T (n.*1129C>T)
c.1048C>T (p.Gln350Ter)
gnomAD v4
19g.11422768G>CCA404120257ODAD3c.1210C>G (p.Gln404Glu)
c.637C>G (p.Gln213Glu)
c.1030C>G (p.Gln344Glu)
c.*1129C>G (n.*1129C>G)
c.1048C>G (p.Gln350Glu)
19g.11422768G>TCA404120259ODAD3c.1210C>A (p.Gln404Lys)
c.637C>A (p.Gln213Lys)
c.1030C>A (p.Gln344Lys)
c.*1129C>A (n.*1129C>A)
c.1048C>A (p.Gln350Lys)
19g.11422769C>ACA404120261ODAD3c.1209G>T (p.Lys403Asn)
c.636G>T (p.Lys212Asn)
c.1029G>T (p.Lys343Asn)
c.*1128G>T (n.*1128G>T)
c.1047G>T (p.Lys349Asn)
19g.11422769C>GCA404120262ODAD3c.1209G>C (p.Lys403Asn)
c.636G>C (p.Lys212Asn)
c.1029G>C (p.Lys343Asn)
c.*1128G>C (n.*1128G>C)
c.1047G>C (p.Lys349Asn)
19g.11422769C>TCA505749486ODAD3c.1209G>A (p.Lys403=)
c.636G>A (p.Lys212=)
c.1029G>A (p.Lys343=)
c.*1128G>A (n.*1128G>A)
c.1047G>A (p.Lys349=)
gnomAD v4
19g.11422770T>ACA404120264ODAD3c.1208A>T (p.Lys403Met)
c.635A>T (p.Lys212Met)
c.1028A>T (p.Lys343Met)
c.*1127A>T (n.*1127A>T)
c.1046A>T (p.Lys349Met)
19g.11422770T>CCA404120266ODAD3c.1208A>G (p.Lys403Arg)
c.635A>G (p.Lys212Arg)
c.1028A>G (p.Lys343Arg)
c.*1127A>G (n.*1127A>G)
c.1046A>G (p.Lys349Arg)
19g.11422770T>GCA404120268ODAD3c.1208A>C (p.Lys403Thr)
c.635A>C (p.Lys212Thr)
c.1028A>C (p.Lys343Thr)
c.*1127A>C (n.*1127A>C)
c.1046A>C (p.Lys349Thr)
19g.11422771T>ACA404120269ODAD3c.1207A>T (p.Lys403Ter)
c.634A>T (p.Lys212Ter)
c.1027A>T (p.Lys343Ter)
c.*1126A>T (n.*1126A>T)
c.1045A>T (p.Lys349Ter)
19g.11422771T>CCA404120270ODAD3c.1207A>G (p.Lys403Glu)
c.634A>G (p.Lys212Glu)
c.1027A>G (p.Lys343Glu)
c.*1126A>G (n.*1126A>G)
c.1045A>G (p.Lys349Glu)
19g.11422771T>GCA404120271ODAD3c.1207A>C (p.Lys403Gln)
c.634A>C (p.Lys212Gln)
c.1027A>C (p.Lys343Gln)
c.*1126A>C (n.*1126A>C)
c.1045A>C (p.Lys349Gln)
19g.11422772C>ACA505749487ODAD3c.1206G>T (p.Leu402=)
c.633G>T (p.Leu211=)
c.1026G>T (p.Leu342=)
c.*1125G>T (n.*1125G>T)
c.1044G>T (p.Leu348=)
19g.11422772C>GCA505749489ODAD3c.1206G>C (p.Leu402=)
c.633G>C (p.Leu211=)
c.1026G>C (p.Leu342=)
c.*1125G>C (n.*1125G>C)
c.1044G>C (p.Leu348=)
19g.11422772C>TCA505749488ODAD3c.1206G>A (p.Leu402=)
c.633G>A (p.Leu211=)
c.1026G>A (p.Leu342=)
c.*1125G>A (n.*1125G>A)
c.1044G>A (p.Leu348=)
gnomAD v4
19g.11422773A>CCA404120272ODAD3c.1205T>G (p.Leu402Arg)
c.632T>G (p.Leu211Arg)
c.1025T>G (p.Leu342Arg)
c.*1124T>G (n.*1124T>G)
c.1043T>G (p.Leu348Arg)
19g.11422773A>GCA404120273ODAD3c.1205T>C (p.Leu402Pro)
c.632T>C (p.Leu211Pro)
c.1025T>C (p.Leu342Pro)
c.*1124T>C (n.*1124T>C)
c.1043T>C (p.Leu348Pro)
19g.11422773A>TCA404120275ODAD3c.1205T>A (p.Leu402Gln)
c.632T>A (p.Leu211Gln)
c.1025T>A (p.Leu342Gln)
c.*1124T>A (n.*1124T>A)
c.1043T>A (p.Leu348Gln)
COSMIC
19g.11422774G>ACA9212085ODAD3c.1204C>T (p.Leu402=)
c.631C>T (p.Leu211=)
c.1024C>T (p.Leu342=)
c.*1123C>T (n.*1123C>T)
c.1042C>T (p.Leu348=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422774G>CCA404120279ODAD3c.1204C>G (p.Leu402Val)
c.631C>G (p.Leu211Val)
c.1024C>G (p.Leu342Val)
c.*1123C>G (n.*1123C>G)
c.1042C>G (p.Leu348Val)
19g.11422774G=CA2322925008ODAD3c.1204C= (p.Leu402=)
c.631C= (p.Leu211=)
c.1024C= (p.Leu342=)
c.*1123C= (n.*1123C=)
c.1042C= (p.Leu348=)
19g.11422774G>TCA404120280ODAD3c.1204C>A (p.Leu402Met)
c.631C>A (p.Leu211Met)
c.1024C>A (p.Leu342Met)
c.*1123C>A (n.*1123C>A)
c.1042C>A (p.Leu348Met)
gnomAD v4
19g.11422777_11422851delCA2582529235ODAD3c.1130_1204del (p.Arg377_Arg401del)
c.557_631del (p.Arg186_Arg210del)
c.950_1024del (p.Arg317_Arg341del)
c.*1049_*1123del (n.*1049_*1123del)
c.968_1042del (p.Arg323_Arg347del)
gnomAD v4
19g.11422775C>ACA404120282ODAD3c.1203G>T (p.Arg401Ser)
c.630G>T (p.Arg210Ser)
c.1023G>T (p.Arg341Ser)
c.*1122G>T (n.*1122G>T)
c.1041G>T (p.Arg347Ser)
19g.11422775C=CA2322925009ODAD3c.1203G= (p.Arg401=)
c.630G= (p.Arg210=)
c.1023G= (p.Arg341=)
c.*1122G= (n.*1122G=)
c.1041G= (p.Arg347=)
19g.11422775C>GCA404120284ODAD3c.1203G>C (p.Arg401Ser)
c.630G>C (p.Arg210Ser)
c.1023G>C (p.Arg341Ser)
c.*1122G>C (n.*1122G>C)
c.1041G>C (p.Arg347Ser)
19g.11422775C>TCA9212086ODAD3c.1203G>A (p.Arg401=)
c.630G>A (p.Arg210=)
c.1023G>A (p.Arg341=)
c.*1122G>A (n.*1122G>A)
c.1041G>A (p.Arg347=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422776C>ACA404120287ODAD3c.1202G>T (p.Arg401Met)
c.629G>T (p.Arg210Met)
c.1022G>T (p.Arg341Met)
c.*1121G>T (n.*1121G>T)
c.1040G>T (p.Arg347Met)
19g.11422776C>GCA404120289ODAD3c.1202G>C (p.Arg401Thr)
c.629G>C (p.Arg210Thr)
c.1022G>C (p.Arg341Thr)
c.*1121G>C (n.*1121G>C)
c.1040G>C (p.Arg347Thr)
COSMIC
19g.11422776C>TCA404120288ODAD3c.1202G>A (p.Arg401Lys)
c.629G>A (p.Arg210Lys)
c.1022G>A (p.Arg341Lys)
c.*1121G>A (n.*1121G>A)
c.1040G>A (p.Arg347Lys)
19g.11422777T>ACA404120290ODAD3c.1201A>T (p.Arg401Trp)
c.628A>T (p.Arg210Trp)
c.1021A>T (p.Arg341Trp)
c.*1120A>T (n.*1120A>T)
c.1039A>T (p.Arg347Trp)
gnomAD v4
19g.11422777T>CCA404120291ODAD3c.1201A>G (p.Arg401Gly)
c.628A>G (p.Arg210Gly)
c.1021A>G (p.Arg341Gly)
c.*1120A>G (n.*1120A>G)
c.1039A>G (p.Arg347Gly)
19g.11422777T>GCA505749490ODAD3c.1201A>C (p.Arg401=)
c.628A>C (p.Arg210=)
c.1021A>C (p.Arg341=)
c.*1120A>C (n.*1120A>C)
c.1039A>C (p.Arg347=)
19g.11422777_11422779delinsTCACA2322925010ODAD3c.1199_1201delinsTGA (p.Val400=)
c.626_628delinsTGA (p.Val209=)
c.1019_1021delinsTGA (p.Val340=)
c.*1118_*1120delinsTGA (n.*1118_*1120delinsTGA)
c.1037_1039delinsTGA (p.Val346=)
19g.11422778C>ACA505749491ODAD3c.1200G>T (p.Val400=)
c.627G>T (p.Val209=)
c.1020G>T (p.Val340=)
c.*1119G>T (n.*1119G>T)
c.1038G>T (p.Val346=)
c.*94G>T (n.*94G>T)
19g.11422778C=CA2322925012ODAD3c.1200G= (p.Val400=)
c.627G= (p.Val209=)
c.1020G= (p.Val340=)
c.*1119G= (n.*1119G=)
c.1038G= (p.Val346=)
c.*94G= (n.*94G=)
19g.11422778C>GCA505749492ODAD3c.1200G>C (p.Val400=)
c.627G>C (p.Val209=)
c.1020G>C (p.Val340=)
c.*1119G>C (n.*1119G>C)
c.1038G>C (p.Val346=)
c.*94G>C (n.*94G>C)
19g.11422778C>TCA505749493ODAD3c.1200G>A (p.Val400=)
c.627G>A (p.Val209=)
c.1020G>A (p.Val340=)
c.*1119G>A (n.*1119G>A)
c.1038G>A (p.Val346=)
c.*94G>A (n.*94G>A)
dbSNP
19g.11422779_11422780delCA2322925011ODAD3c.1199_1200del (p.Val400GlufsTer?)
c.626_627del (p.Val209GlufsTer?)
c.1019_1020del (p.Val340GlufsTer?)
c.*1118_*1119del (n.*1118_*1119del)
c.1037_1038del (p.Val346GlufsTer?)
c.*93_*94del (n.*93_*94del)
dbSNP
19g.11422779A>CCA404120293ODAD3c.1199T>G (p.Val400Gly)
c.626T>G (p.Val209Gly)
c.1019T>G (p.Val340Gly)
c.*1118T>G (n.*1118T>G)
c.1037T>G (p.Val346Gly)
c.*93T>G (n.*93T>G)
19g.11422779A>GCA404120295ODAD3c.1199T>C (p.Val400Ala)
c.626T>C (p.Val209Ala)
c.1019T>C (p.Val340Ala)
c.*1118T>C (n.*1118T>C)
c.1037T>C (p.Val346Ala)
c.*93T>C (n.*93T>C)
19g.11422779A>TCA404120296ODAD3c.1199T>A (p.Val400Glu)
c.626T>A (p.Val209Glu)
c.1019T>A (p.Val340Glu)
c.*1118T>A (n.*1118T>A)
c.1037T>A (p.Val346Glu)
c.*93T>A (n.*93T>A)
19g.11422780C>ACA404120299ODAD3c.1198G>T (p.Val400Leu)
c.625G>T (p.Val209Leu)
c.1018G>T (p.Val340Leu)
c.*1117G>T (n.*1117G>T)
c.1036G>T (p.Val346Leu)
c.*92G>T (n.*92G>T)
19g.11422780C>GCA404120300ODAD3c.1198G>C (p.Val400Leu)
c.625G>C (p.Val209Leu)
c.1018G>C (p.Val340Leu)
c.*1117G>C (n.*1117G>C)
c.1036G>C (p.Val346Leu)
c.*92G>C (n.*92G>C)
19g.11422780C>TCA404120301ODAD3c.1198G>A (p.Val400Met)
c.625G>A (p.Val209Met)
c.1018G>A (p.Val340Met)
c.*1117G>A (n.*1117G>A)
c.1036G>A (p.Val346Met)
c.*92G>A (n.*92G>A)
19g.11422781C>ACA404120303ODAD3c.1197G>T (p.Leu399Phe)
c.624G>T (p.Leu208Phe)
c.1017G>T (p.Leu339Phe)
c.*1116G>T (n.*1116G>T)
c.1035G>T (p.Leu345Phe)
c.*91G>T (n.*91G>T)
19g.11422781C=CA2322925013ODAD3c.1197G= (p.Leu399=)
c.624G= (p.Leu208=)
c.1017G= (p.Leu339=)
c.*1116G= (n.*1116G=)
c.1035G= (p.Leu345=)
c.*91G= (n.*91G=)
19g.11422781C>GCA404120305ODAD3c.1197G>C (p.Leu399Phe)
c.624G>C (p.Leu208Phe)
c.1017G>C (p.Leu339Phe)
c.*1116G>C (n.*1116G>C)
c.1035G>C (p.Leu345Phe)
c.*91G>C (n.*91G>C)
19g.11422781C>TCA505749494ODAD3c.1197G>A (p.Leu399=)
c.624G>A (p.Leu208=)
c.1017G>A (p.Leu339=)
c.*1116G>A (n.*1116G>A)
c.1035G>A (p.Leu345=)
c.*91G>A (n.*91G>A)
dbSNP gnomAD v2 gnomAD v4
19g.11422782A=CA2322925014ODAD3c.1196T= (p.Leu399=)
c.623T= (p.Leu208=)
c.1016T= (p.Leu339=)
c.*1115T= (n.*1115T=)
c.1034T= (p.Leu345=)
c.*90T= (n.*90T=)
19g.11422782A>CCA404120307ODAD3c.1196T>G (p.Leu399Trp)
c.623T>G (p.Leu208Trp)
c.1016T>G (p.Leu339Trp)
c.*1115T>G (n.*1115T>G)
c.1034T>G (p.Leu345Trp)
c.*90T>G (n.*90T>G)
ClinVar dbSNP gnomAD v4
19g.11422782A>GCA404120308ODAD3c.1196T>C (p.Leu399Ser)
c.623T>C (p.Leu208Ser)
c.1016T>C (p.Leu339Ser)
c.*1115T>C (n.*1115T>C)
c.1034T>C (p.Leu345Ser)
c.*90T>C (n.*90T>C)
gnomAD v4
19g.11422782A>TCA404120310ODAD3c.1196T>A (p.Leu399Ter)
c.623T>A (p.Leu208Ter)
c.1016T>A (p.Leu339Ter)
c.*1115T>A (n.*1115T>A)
c.1034T>A (p.Leu345Ter)
c.*90T>A (n.*90T>A)
19g.11422783A=CA2322925015ODAD3c.1195T= (p.Leu399=)
c.622T= (p.Leu208=)
c.1015T= (p.Leu339=)
c.*1114T= (n.*1114T=)
c.1033T= (p.Leu345=)
c.*89T= (n.*89T=)
19g.11422783A>CCA404120311ODAD3c.1195T>G (p.Leu399Val)
c.622T>G (p.Leu208Val)
c.1015T>G (p.Leu339Val)
c.*1114T>G (n.*1114T>G)
c.1033T>G (p.Leu345Val)
c.*89T>G (n.*89T>G)
19g.11422783A>GCA505749495ODAD3c.1195T>C (p.Leu399=)
c.622T>C (p.Leu208=)
c.1015T>C (p.Leu339=)
c.*1114T>C (n.*1114T>C)
c.1033T>C (p.Leu345=)
c.*89T>C (n.*89T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11422783A>TCA404120313ODAD3c.1195T>A (p.Leu399Met)
c.622T>A (p.Leu208Met)
c.1015T>A (p.Leu339Met)
c.*1114T>A (n.*1114T>A)
c.1033T>A (p.Leu345Met)
c.*89T>A (n.*89T>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11422784C>ACA505749496ODAD3c.1194G>T (p.Thr398=)
c.621G>T (p.Thr207=)
c.1014G>T (p.Thr338=)
c.*1113G>T (n.*1113G>T)
c.1032G>T (p.Thr344=)
c.*88G>T (n.*88G>T)
19g.11422784C=CA2322925016ODAD3c.1194G= (p.Thr398=)
c.621G= (p.Thr207=)
c.1014G= (p.Thr338=)
c.*1113G= (n.*1113G=)
c.1032G= (p.Thr344=)
c.*88G= (n.*88G=)
19g.11422784C>GCA9212087ODAD3c.1194G>C (p.Thr398=)
c.621G>C (p.Thr207=)
c.1014G>C (p.Thr338=)
c.*1113G>C (n.*1113G>C)
c.1032G>C (p.Thr344=)
c.*88G>C (n.*88G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422784C>TCA505749497ODAD3c.1194G>A (p.Thr398=)
c.621G>A (p.Thr207=)
c.1014G>A (p.Thr338=)
c.*1113G>A (n.*1113G>A)
c.1032G>A (p.Thr344=)
c.*88G>A (n.*88G>A)
dbSNP
19g.11422785G>ACA404120315ODAD3c.1193C>T (p.Thr398Met)
c.620C>T (p.Thr207Met)
c.1013C>T (p.Thr338Met)
c.*1112C>T (n.*1112C>T)
c.1031C>T (p.Thr344Met)
c.*87C>T (n.*87C>T)
gnomAD v4
19g.11422785G>CCA404120316ODAD3c.1193C>G (p.Thr398Arg)
c.620C>G (p.Thr207Arg)
c.1013C>G (p.Thr338Arg)
c.*1112C>G (n.*1112C>G)
c.1031C>G (p.Thr344Arg)
c.*87C>G (n.*87C>G)
gnomAD v4
19g.11422785G=CA2322925017ODAD3c.1193C= (p.Thr398=)
c.620C= (p.Thr207=)
c.1013C= (p.Thr338=)
c.*1112C= (n.*1112C=)
c.1031C= (p.Thr344=)
c.*87C= (n.*87C=)
19g.11422785G>TCA9212088ODAD3c.1193C>A (p.Thr398Lys)
c.620C>A (p.Thr207Lys)
c.1013C>A (p.Thr338Lys)
c.*1112C>A (n.*1112C>A)
c.1031C>A (p.Thr344Lys)
c.*87C>A (n.*87C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422786_11422789dupCA783271450ODAD3c.1190_1193dup (p.Leu399AspfsTer?)
c.617_620dup (p.Leu208AspfsTer?)
c.1010_1013dup (p.Leu339AspfsTer?)
c.*1109_*1112dup (n.*1109_*1112dup)
c.1028_1031dup (p.Leu345AspfsTer?)
c.*84_*87dup (n.*84_*87dup)
dbSNP gnomAD v3 gnomAD v4
19g.11422786T>ACA404120317ODAD3c.1192A>T (p.Thr398Ser)
c.619A>T (p.Thr207Ser)
c.1012A>T (p.Thr338Ser)
c.*1111A>T (n.*1111A>T)
c.1030A>T (p.Thr344Ser)
c.*86A>T (n.*86A>T)
19g.11422786T>CCA404120319ODAD3c.1192A>G (p.Thr398Ala)
c.619A>G (p.Thr207Ala)
c.1012A>G (p.Thr338Ala)
c.*1111A>G (n.*1111A>G)
c.1030A>G (p.Thr344Ala)
c.*86A>G (n.*86A>G)
19g.11422786T>GCA404120320ODAD3c.1192A>C (p.Thr398Pro)
c.619A>C (p.Thr207Pro)
c.1012A>C (p.Thr338Pro)
c.*1111A>C (n.*1111A>C)
c.1030A>C (p.Thr344Pro)
c.*86A>C (n.*86A>C)
19g.11422787C>ACA404120322ODAD3c.1191G>T (p.Gln397His)
c.618G>T (p.Gln206His)
c.1011G>T (p.Gln337His)
c.*1110G>T (n.*1110G>T)
c.1029G>T (p.Gln343His)
c.*85G>T (n.*85G>T)
19g.11422787C=CA2322925018ODAD3c.1191G= (p.Gln397=)
c.618G= (p.Gln206=)
c.1011G= (p.Gln337=)
c.*1110G= (n.*1110G=)
c.1029G= (p.Gln343=)
c.*85G= (n.*85G=)
19g.11422787C>GCA404120323ODAD3c.1191G>C (p.Gln397His)
c.618G>C (p.Gln206His)
c.1011G>C (p.Gln337His)
c.*1110G>C (n.*1110G>C)
c.1029G>C (p.Gln343His)
c.*85G>C (n.*85G>C)
19g.11422787C>TCA9212089ODAD3c.1191G>A (p.Gln397=)
c.618G>A (p.Gln206=)
c.1011G>A (p.Gln337=)
c.*1110G>A (n.*1110G>A)
c.1029G>A (p.Gln343=)
c.*85G>A (n.*85G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422788T>ACA404120326ODAD3c.1190A>T (p.Gln397Leu)
c.617A>T (p.Gln206Leu)
c.1010A>T (p.Gln337Leu)
c.*1109A>T (n.*1109A>T)
c.1028A>T (p.Gln343Leu)
c.*84A>T (n.*84A>T)
19g.11422788T>CCA404120327ODAD3c.1190A>G (p.Gln397Arg)
c.617A>G (p.Gln206Arg)
c.1010A>G (p.Gln337Arg)
c.*1109A>G (n.*1109A>G)
c.1028A>G (p.Gln343Arg)
c.*84A>G (n.*84A>G)
19g.11422788T>GCA404120329ODAD3c.1190A>C (p.Gln397Pro)
c.617A>C (p.Gln206Pro)
c.1010A>C (p.Gln337Pro)
c.*1109A>C (n.*1109A>C)
c.1028A>C (p.Gln343Pro)
c.*84A>C (n.*84A>C)
19g.11422789G>ACA404120335ODAD3c.1189C>T (p.Gln397Ter)
c.616C>T (p.Gln206Ter)
c.1009C>T (p.Gln337Ter)
c.*1108C>T (n.*1108C>T)
c.1027C>T (p.Gln343Ter)
c.*83C>T (n.*83C>T)
19g.11422789G>CCA9212090ODAD3c.1189C>G (p.Gln397Glu)
c.616C>G (p.Gln206Glu)
c.1009C>G (p.Gln337Glu)
c.*1108C>G (n.*1108C>G)
c.1027C>G (p.Gln343Glu)
c.*83C>G (n.*83C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422789G=CA2322925019ODAD3c.1189C= (p.Gln397=)
c.616C= (p.Gln206=)
c.1009C= (p.Gln337=)
c.*1108C= (n.*1108C=)
c.1027C= (p.Gln343=)
c.*83C= (n.*83C=)
19g.11422789G>TCA404120332ODAD3c.1189C>A (p.Gln397Lys)
c.616C>A (p.Gln206Lys)
c.1009C>A (p.Gln337Lys)
c.*1108C>A (n.*1108C>A)
c.1027C>A (p.Gln343Lys)
c.*83C>A (n.*83C>A)
gnomAD v4
19g.11422790C>ACA404120337ODAD3c.1188G>T (p.Glu396Asp)
c.615G>T (p.Glu205Asp)
c.1008G>T (p.Glu336Asp)
c.*1107G>T (n.*1107G>T)
c.1026G>T (p.Glu342Asp)
c.*82G>T (n.*82G>T)
19g.11422790C>GCA404120338ODAD3c.1188G>C (p.Glu396Asp)
c.615G>C (p.Glu205Asp)
c.1008G>C (p.Glu336Asp)
c.*1107G>C (n.*1107G>C)
c.1026G>C (p.Glu342Asp)
c.*82G>C (n.*82G>C)
19g.11422790C>TCA505749498ODAD3c.1188G>A (p.Glu396=)
c.615G>A (p.Glu205=)
c.1008G>A (p.Glu336=)
c.*1107G>A (n.*1107G>A)
c.1026G>A (p.Glu342=)
c.*82G>A (n.*82G>A)
gnomAD v4
19g.11422791T>ACA404120340ODAD3c.1187A>T (p.Glu396Val)
c.614A>T (p.Glu205Val)
c.1007A>T (p.Glu336Val)
c.*1106A>T (n.*1106A>T)
c.1025A>T (p.Glu342Val)
c.*81A>T (n.*81A>T)
19g.11422791T>CCA404120342ODAD3c.1187A>G (p.Glu396Gly)
c.614A>G (p.Glu205Gly)
c.1007A>G (p.Glu336Gly)
c.*1106A>G (n.*1106A>G)
c.1025A>G (p.Glu342Gly)
c.*81A>G (n.*81A>G)
19g.11422791T>GCA404120344ODAD3c.1187A>C (p.Glu396Ala)
c.614A>C (p.Glu205Ala)
c.1007A>C (p.Glu336Ala)
c.*1106A>C (n.*1106A>C)
c.1025A>C (p.Glu342Ala)
c.*81A>C (n.*81A>C)
19g.11422792C>ACA9212093ODAD3c.1186G>T (p.Glu396Ter)
c.613G>T (p.Glu205Ter)
c.1006G>T (p.Glu336Ter)
c.*1105G>T (n.*1105G>T)
c.1024G>T (p.Glu342Ter)
c.*80G>T (n.*80G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792C=CA2322925020ODAD3c.1186G= (p.Glu396=)
c.613G= (p.Glu205=)
c.1006G= (p.Glu336=)
c.*1105G= (n.*1105G=)
c.1024G= (p.Glu342=)
c.*80G= (n.*80G=)
19g.11422792C>GCA9212091ODAD3c.1186G>C (p.Glu396Gln)
c.613G>C (p.Glu205Gln)
c.1006G>C (p.Glu336Gln)
c.*1105G>C (n.*1105G>C)
c.1024G>C (p.Glu342Gln)
c.*80G>C (n.*80G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792C>TCA9212092ODAD3c.1186G>A (p.Glu396Lys)
c.613G>A (p.Glu205Lys)
c.1006G>A (p.Glu336Lys)
c.*1105G>A (n.*1105G>A)
c.1024G>A (p.Glu342Lys)
c.*80G>A (n.*80G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792_11422793delinsCGCA2322925021ODAD3c.1185_1186delinsCG (p.Asn395=)
c.612_613delinsCG (p.Asn204=)
c.1005_1006delinsCG (p.Asn335=)
c.*1104_*1105delinsCG (n.*1104_*1105delinsCG)
c.1023_1024delinsCG (p.Asn341=)
c.*79_*80delinsCG (n.*79_*80delinsCG)
19g.11422793delCA783271463ODAD3c.1185del (p.Asn395LysfsTer6)
c.612del (p.Asn204LysfsTer6)
c.1005del (p.Asn335LysfsTer6)
c.*1104del (n.*1104del)
c.1023del (p.Asn341LysfsTer6)
c.*79del (n.*79del)
dbSNP
19g.11422793G>ACA505749499ODAD3c.1185C>T (p.Asn395=)
c.612C>T (p.Asn204=)
c.1005C>T (p.Asn335=)
c.*1104C>T (n.*1104C>T)
c.1023C>T (p.Asn341=)
c.*79C>T (n.*79C>T)
ClinVar dbSNP gnomAD v4
19g.11422793G>CCA404120347ODAD3c.1185C>G (p.Asn395Lys)
c.612C>G (p.Asn204Lys)
c.1005C>G (p.Asn335Lys)
c.*1104C>G (n.*1104C>G)
c.1023C>G (p.Asn341Lys)
c.*79C>G (n.*79C>G)
19g.11422793G=CA2322925022ODAD3c.1185C= (p.Asn395=)
c.612C= (p.Asn204=)
c.1005C= (p.Asn335=)
c.*1104C= (n.*1104C=)
c.1023C= (p.Asn341=)
c.*79C= (n.*79C=)
19g.11422793G>TCA404120348ODAD3c.1185C>A (p.Asn395Lys)
c.612C>A (p.Asn204Lys)
c.1005C>A (p.Asn335Lys)
c.*1104C>A (n.*1104C>A)
c.1023C>A (p.Asn341Lys)
c.*79C>A (n.*79C>A)
19g.11422794T>ACA404120351ODAD3c.1184A>T (p.Asn395Ile)
c.611A>T (p.Asn204Ile)
c.1004A>T (p.Asn335Ile)
c.*1103A>T (n.*1103A>T)
c.1022A>T (p.Asn341Ile)
c.*78A>T (n.*78A>T)
19g.11422794T>CCA404120352ODAD3c.1184A>G (p.Asn395Ser)
c.611A>G (p.Asn204Ser)
c.1004A>G (p.Asn335Ser)
c.*1103A>G (n.*1103A>G)
c.1022A>G (p.Asn341Ser)
c.*78A>G (n.*78A>G)
19g.11422794T>GCA404120354ODAD3c.1184A>C (p.Asn395Thr)
c.611A>C (p.Asn204Thr)
c.1004A>C (p.Asn335Thr)
c.*1103A>C (n.*1103A>C)
c.1022A>C (p.Asn341Thr)
c.*78A>C (n.*78A>C)
19g.11422795T>ACA404120355ODAD3c.1183A>T (p.Asn395Tyr)
c.610A>T (p.Asn204Tyr)
c.1003A>T (p.Asn335Tyr)
c.*1102A>T (n.*1102A>T)
c.1021A>T (p.Asn341Tyr)
c.*77A>T (n.*77A>T)
19g.11422795T>CCA404120358ODAD3c.1183A>G (p.Asn395Asp)
c.610A>G (p.Asn204Asp)
c.1003A>G (p.Asn335Asp)
c.*1102A>G (n.*1102A>G)
c.1021A>G (p.Asn341Asp)
c.*77A>G (n.*77A>G)
19g.11422795T>GCA404120356ODAD3c.1183A>C (p.Asn395His)
c.610A>C (p.Asn204His)
c.1003A>C (p.Asn335His)
c.*1102A>C (n.*1102A>C)
c.1021A>C (p.Asn341His)
c.*77A>C (n.*77A>C)
19g.11422796C>ACA404120360ODAD3c.1182G>T (p.Glu394Asp)
c.609G>T (p.Glu203Asp)
c.1002G>T (p.Glu334Asp)
c.*1101G>T (n.*1101G>T)
c.1020G>T (p.Glu340Asp)
c.*76G>T (n.*76G>T)
19g.11422796C>GCA404120361ODAD3c.1182G>C (p.Glu394Asp)
c.609G>C (p.Glu203Asp)
c.1002G>C (p.Glu334Asp)
c.*1101G>C (n.*1101G>C)
c.1020G>C (p.Glu340Asp)
c.*76G>C (n.*76G>C)
19g.11422796C>TCA505749500ODAD3c.1182G>A (p.Glu394=)
c.609G>A (p.Glu203=)
c.1002G>A (p.Glu334=)
c.*1101G>A (n.*1101G>A)
c.1020G>A (p.Glu340=)
c.*76G>A (n.*76G>A)
gnomAD v4
19g.11422797T>ACA404120362ODAD3c.1181A>T (p.Glu394Val)
c.608A>T (p.Glu203Val)
c.1001A>T (p.Glu334Val)
c.*1100A>T (n.*1100A>T)
c.1019A>T (p.Glu340Val)
c.*75A>T (n.*75A>T)
19g.11422797T>CCA404120364ODAD3c.1181A>G (p.Glu394Gly)
c.608A>G (p.Glu203Gly)
c.1001A>G (p.Glu334Gly)
c.*1100A>G (n.*1100A>G)
c.1019A>G (p.Glu340Gly)
c.*75A>G (n.*75A>G)
19g.11422797T>GCA404120365ODAD3c.1181A>C (p.Glu394Ala)
c.608A>C (p.Glu203Ala)
c.1001A>C (p.Glu334Ala)
c.*1100A>C (n.*1100A>C)
c.1019A>C (p.Glu340Ala)
c.*75A>C (n.*75A>C)
19g.11422798C>ACA9212094ODAD3c.1180G>T (p.Glu394Ter)
c.607G>T (p.Glu203Ter)
c.1000G>T (p.Glu334Ter)
c.*1099G>T (n.*1099G>T)
c.1018G>T (p.Glu340Ter)
c.*74G>T (n.*74G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422798C=CA2322925023ODAD3c.1180G= (p.Glu394=)
c.607G= (p.Glu203=)
c.1000G= (p.Glu334=)
c.*1099G= (n.*1099G=)
c.1018G= (p.Glu340=)
c.*74G= (n.*74G=)
19g.11422798C>GCA404120367ODAD3c.1180G>C (p.Glu394Gln)
c.607G>C (p.Glu203Gln)
c.1000G>C (p.Glu334Gln)
c.*1099G>C (n.*1099G>C)
c.1018G>C (p.Glu340Gln)
c.*74G>C (n.*74G>C)
19g.11422798C>TCA404120369ODAD3c.1180G>A (p.Glu394Lys)
c.607G>A (p.Glu203Lys)
c.1000G>A (p.Glu334Lys)
c.*1099G>A (n.*1099G>A)
c.1018G>A (p.Glu340Lys)
c.*74G>A (n.*74G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11422799G>ACA505749501ODAD3c.1179C>T (p.Ser393=)
c.606C>T (p.Ser202=)
c.999C>T (p.Ser333=)
c.*1098C>T (n.*1098C>T)
c.1017C>T (p.Ser339=)
c.*73C>T (n.*73C>T)
19g.11422799G>CCA404120371ODAD3c.1179C>G (p.Ser393Arg)
c.606C>G (p.Ser202Arg)
c.999C>G (p.Ser333Arg)
c.*1098C>G (n.*1098C>G)
c.1017C>G (p.Ser339Arg)
c.*73C>G (n.*73C>G)
19g.11422799G>TCA404120373ODAD3c.1179C>A (p.Ser393Arg)
c.606C>A (p.Ser202Arg)
c.999C>A (p.Ser333Arg)
c.*1098C>A (n.*1098C>A)
c.1017C>A (p.Ser339Arg)
c.*73C>A (n.*73C>A)
gnomAD v4
19g.11422800C>ACA404120378ODAD3c.1178G>T (p.Ser393Ile)
c.605G>T (p.Ser202Ile)
c.998G>T (p.Ser333Ile)
c.*1097G>T (n.*1097G>T)
c.1016G>T (p.Ser339Ile)
c.*72G>T (n.*72G>T)
19g.11422800C=CA2322925024ODAD3c.1178G= (p.Ser393=)
c.605G= (p.Ser202=)
c.998G= (p.Ser333=)
c.*1097G= (n.*1097G=)
c.1016G= (p.Ser339=)
c.*72G= (n.*72G=)
19g.11422800C>GCA404120376ODAD3c.1178G>C (p.Ser393Thr)
c.605G>C (p.Ser202Thr)
c.998G>C (p.Ser333Thr)
c.*1097G>C (n.*1097G>C)
c.1016G>C (p.Ser339Thr)
c.*72G>C (n.*72G>C)
19g.11422800C>TCA9212095ODAD3c.1178G>A (p.Ser393Asn)
c.605G>A (p.Ser202Asn)
c.998G>A (p.Ser333Asn)
c.*1097G>A (n.*1097G>A)
c.1016G>A (p.Ser339Asn)
c.*72G>A (n.*72G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422801T>ACA9212096ODAD3c.1177A>T (p.Ser393Cys)
c.604A>T (p.Ser202Cys)
c.997A>T (p.Ser333Cys)
c.*1096A>T (n.*1096A>T)
c.1015A>T (p.Ser339Cys)
c.*71A>T (n.*71A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422801T>CCA404120382ODAD3c.1177A>G (p.Ser393Gly)
c.604A>G (p.Ser202Gly)
c.997A>G (p.Ser333Gly)
c.*1096A>G (n.*1096A>G)
c.1015A>G (p.Ser339Gly)
c.*71A>G (n.*71A>G)
dbSNP
19g.11422801T>GCA404120380ODAD3c.1177A>C (p.Ser393Arg)
c.604A>C (p.Ser202Arg)
c.997A>C (p.Ser333Arg)
c.*1096A>C (n.*1096A>C)
c.1015A>C (p.Ser339Arg)
c.*71A>C (n.*71A>C)
19g.11422801T=CA2322925025ODAD3c.1177A= (p.Ser393=)
c.604A= (p.Ser202=)
c.997A= (p.Ser333=)
c.*1096A= (n.*1096A=)
c.1015A= (p.Ser339=)
c.*71A= (n.*71A=)
19g.11422802C>ACA404120384ODAD3c.1176G>T (p.Lys392Asn)
c.603G>T (p.Lys201Asn)
c.996G>T (p.Lys332Asn)
c.*1095G>T (n.*1095G>T)
c.1014G>T (p.Lys338Asn)
c.*70G>T (n.*70G>T)
19g.11422802C=CA2322925026ODAD3c.1176G= (p.Lys392=)
c.603G= (p.Lys201=)
c.996G= (p.Lys332=)
c.*1095G= (n.*1095G=)
c.1014G= (p.Lys338=)
c.*70G= (n.*70G=)
19g.11422802C>GCA9212097ODAD3c.1176G>C (p.Lys392Asn)
c.603G>C (p.Lys201Asn)
c.996G>C (p.Lys332Asn)
c.*1095G>C (n.*1095G>C)
c.1014G>C (p.Lys338Asn)
c.*70G>C (n.*70G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422802C>TCA505749502ODAD3c.1176G>A (p.Lys392=)
c.603G>A (p.Lys201=)
c.996G>A (p.Lys332=)
c.*1095G>A (n.*1095G>A)
c.1014G>A (p.Lys338=)
c.*70G>A (n.*70G>A)
dbSNP
19g.11422803T>ACA404120387ODAD3c.1175A>T (p.Lys392Met)
c.602A>T (p.Lys201Met)
c.995A>T (p.Lys332Met)
c.*1094A>T (n.*1094A>T)
c.1013A>T (p.Lys338Met)
c.*69A>T (n.*69A>T)
19g.11422803T>CCA404120389ODAD3c.1175A>G (p.Lys392Arg)
c.602A>G (p.Lys201Arg)
c.995A>G (p.Lys332Arg)
c.*1094A>G (n.*1094A>G)
c.1013A>G (p.Lys338Arg)
c.*69A>G (n.*69A>G)
gnomAD v4
19g.11422803T>GCA404120390ODAD3c.1175A>C (p.Lys392Thr)
c.602A>C (p.Lys201Thr)
c.995A>C (p.Lys332Thr)
c.*1094A>C (n.*1094A>C)
c.1013A>C (p.Lys338Thr)
c.*69A>C (n.*69A>C)
19g.11422804T>ACA404120392ODAD3c.1174A>T (p.Lys392Ter)
c.601A>T (p.Lys201Ter)
c.994A>T (p.Lys332Ter)
c.*1093A>T (n.*1093A>T)
c.1012A>T (p.Lys338Ter)
c.*68A>T (n.*68A>T)
19g.11422804T>CCA404120397ODAD3c.1174A>G (p.Lys392Glu)
c.601A>G (p.Lys201Glu)
c.994A>G (p.Lys332Glu)
c.*1093A>G (n.*1093A>G)
c.1012A>G (p.Lys338Glu)
c.*68A>G (n.*68A>G)
19g.11422804T>GCA404120399ODAD3c.1174A>C (p.Lys392Gln)
c.601A>C (p.Lys201Gln)
c.994A>C (p.Lys332Gln)
c.*1093A>C (n.*1093A>C)
c.1012A>C (p.Lys338Gln)
c.*68A>C (n.*68A>C)
19g.11422805G>ACA505749503ODAD3c.1173C>T (p.Leu391=)
c.600C>T (p.Leu200=)
c.993C>T (p.Leu331=)
c.*1092C>T (n.*1092C>T)
c.1011C>T (p.Leu337=)
c.*67C>T (n.*67C>T)
COSMIC
19g.11422805G>CCA505749504ODAD3c.1173C>G (p.Leu391=)
c.600C>G (p.Leu200=)
c.993C>G (p.Leu331=)
c.*1092C>G (n.*1092C>G)
c.1011C>G (p.Leu337=)
c.*67C>G (n.*67C>G)
19g.11422805G>TCA505749505ODAD3c.1173C>A (p.Leu391=)
c.600C>A (p.Leu200=)
c.993C>A (p.Leu331=)
c.*1092C>A (n.*1092C>A)
c.1011C>A (p.Leu337=)
c.*67C>A (n.*67C>A)
gnomAD v4
19g.11422806A>CCA404120401ODAD3c.1172T>G (p.Leu391Arg)
c.599T>G (p.Leu200Arg)
c.992T>G (p.Leu331Arg)
c.*1091T>G (n.*1091T>G)
c.1010T>G (p.Leu337Arg)
c.*66T>G (n.*66T>G)
19g.11422806A>GCA404120403ODAD3c.1172T>C (p.Leu391Pro)
c.599T>C (p.Leu200Pro)
c.992T>C (p.Leu331Pro)
c.*1091T>C (n.*1091T>C)
c.1010T>C (p.Leu337Pro)
c.*66T>C (n.*66T>C)
19g.11422806A>TCA404120406ODAD3c.1172T>A (p.Leu391His)
c.599T>A (p.Leu200His)
c.992T>A (p.Leu331His)
c.*1091T>A (n.*1091T>A)
c.1010T>A (p.Leu337His)
c.*66T>A (n.*66T>A)
19g.11422807G>ACA404120410ODAD3c.1171C>T (p.Leu391Phe)
c.598C>T (p.Leu200Phe)
c.991C>T (p.Leu331Phe)
c.*1090C>T (n.*1090C>T)
c.1009C>T (p.Leu337Phe)
c.*65C>T (n.*65C>T)
19g.11422807G>CCA404120408ODAD3c.1171C>G (p.Leu391Val)
c.598C>G (p.Leu200Val)
c.991C>G (p.Leu331Val)
c.*1090C>G (n.*1090C>G)
c.1009C>G (p.Leu337Val)
c.*65C>G (n.*65C>G)
19g.11422807G=CA2322925027ODAD3c.1171C= (p.Leu391=)
c.598C= (p.Leu200=)
c.991C= (p.Leu331=)
c.*1090C= (n.*1090C=)
c.1009C= (p.Leu337=)
c.*65C= (n.*65C=)
19g.11422807G>TCA404120407ODAD3c.1171C>A (p.Leu391Ile)
c.598C>A (p.Leu200Ile)
c.991C>A (p.Leu331Ile)
c.*1090C>A (n.*1090C>A)
c.1009C>A (p.Leu337Ile)
c.*65C>A (n.*65C>A)
dbSNP gnomAD v2 gnomAD v4
19g.11422808C>ACA505749508ODAD3c.1170G>T (p.Thr390=)
c.597G>T (p.Thr199=)
c.990G>T (p.Thr330=)
c.*1089G>T (n.*1089G>T)
c.1008G>T (p.Thr336=)
c.*64G>T (n.*64G>T)
ClinVar dbSNP
19g.11422808C=CA2322925028ODAD3c.1170G= (p.Thr390=)
c.597G= (p.Thr199=)
c.990G= (p.Thr330=)
c.*1089G= (n.*1089G=)
c.1008G= (p.Thr336=)
c.*64G= (n.*64G=)
19g.11422808C>GCA505749506ODAD3c.1170G>C (p.Thr390=)
c.597G>C (p.Thr199=)
c.990G>C (p.Thr330=)
c.*1089G>C (n.*1089G>C)
c.1008G>C (p.Thr336=)
c.*64G>C (n.*64G>C)
19g.11422808C>TCA505749507ODAD3c.1170G>A (p.Thr390=)
c.597G>A (p.Thr199=)
c.990G>A (p.Thr330=)
c.*1089G>A (n.*1089G>A)
c.1008G>A (p.Thr336=)
c.*64G>A (n.*64G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422809_11422811delCA2582529236ODAD3c.1168_1170del (p.Thr390del)
c.595_597del (p.Thr199del)
c.988_990del (p.Thr330del)
c.*1087_*1089del (n.*1087_*1089del)
c.1006_1008del (p.Thr336del)
c.*62_*64del (n.*62_*64del)
gnomAD v4
19g.11422809G>ACA404120412ODAD3c.1169C>T (p.Thr390Met)
c.596C>T (p.Thr199Met)
c.989C>T (p.Thr330Met)
c.*1088C>T (n.*1088C>T)
c.1007C>T (p.Thr336Met)
c.*63C>T (n.*63C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422809G>CCA404120414ODAD3c.1169C>G (p.Thr390Arg)
c.596C>G (p.Thr199Arg)
c.989C>G (p.Thr330Arg)
c.*1088C>G (n.*1088C>G)
c.1007C>G (p.Thr336Arg)
c.*63C>G (n.*63C>G)
19g.11422809G=CA2322925030ODAD3c.1169C= (p.Thr390=)
c.596C= (p.Thr199=)
c.989C= (p.Thr330=)
c.*1088C= (n.*1088C=)
c.1007C= (p.Thr336=)
c.*63C= (n.*63C=)
19g.11422809G>TCA404120415ODAD3c.1169C>A (p.Thr390Lys)
c.596C>A (p.Thr199Lys)
c.989C>A (p.Thr330Lys)
c.*1088C>A (n.*1088C>A)
c.1007C>A (p.Thr336Lys)
c.*63C>A (n.*63C>A)
19g.11422809_11422812dupCA2322925029ODAD3c.1166_1169dup (p.Leu391AspfsTer?)
c.593_596dup (p.Leu200AspfsTer?)
c.986_989dup (p.Leu331AspfsTer?)
c.*1085_*1088dup (n.*1085_*1088dup)
c.1004_1007dup (p.Leu337AspfsTer?)
c.*60_*63dup (n.*60_*63dup)
ClinVar dbSNP
19g.11422810T>ACA404120417ODAD3c.1168A>T (p.Thr390Ser)
c.595A>T (p.Thr199Ser)
c.988A>T (p.Thr330Ser)
c.*1087A>T (n.*1087A>T)
c.1006A>T (p.Thr336Ser)
c.*62A>T (n.*62A>T)
19g.11422810T>CCA404120419ODAD3c.1168A>G (p.Thr390Ala)
c.595A>G (p.Thr199Ala)
c.988A>G (p.Thr330Ala)
c.*1087A>G (n.*1087A>G)
c.1006A>G (p.Thr336Ala)
c.*62A>G (n.*62A>G)
19g.11422810T>GCA404120420ODAD3c.1168A>C (p.Thr390Pro)
c.595A>C (p.Thr199Pro)
c.988A>C (p.Thr330Pro)
c.*1087A>C (n.*1087A>C)
c.1006A>C (p.Thr336Pro)
c.*62A>C (n.*62A>C)
19g.11422811C>ACA404120421ODAD3c.1167G>T (p.Glu389Asp)
c.594G>T (p.Glu198Asp)
c.987G>T (p.Glu329Asp)
c.*1086G>T (n.*1086G>T)
c.1005G>T (p.Glu335Asp)
c.*61G>T (n.*61G>T)
19g.11422811C>GCA404120422ODAD3c.1167G>C (p.Glu389Asp)
c.594G>C (p.Glu198Asp)
c.987G>C (p.Glu329Asp)
c.*1086G>C (n.*1086G>C)
c.1005G>C (p.Glu335Asp)
c.*61G>C (n.*61G>C)
19g.11422811C>TCA505749509ODAD3c.1167G>A (p.Glu389=)
c.594G>A (p.Glu198=)
c.987G>A (p.Glu329=)
c.*1086G>A (n.*1086G>A)
c.1005G>A (p.Glu335=)
c.*61G>A (n.*61G>A)
19g.11422812T>ACA404120424ODAD3c.1166A>T (p.Glu389Val)
c.593A>T (p.Glu198Val)
c.986A>T (p.Glu329Val)
c.*1085A>T (n.*1085A>T)
c.1004A>T (p.Glu335Val)
c.*60A>T (n.*60A>T)
19g.11422812T>CCA404120425ODAD3c.1166A>G (p.Glu389Gly)
c.593A>G (p.Glu198Gly)
c.986A>G (p.Glu329Gly)
c.*1085A>G (n.*1085A>G)
c.1004A>G (p.Glu335Gly)
c.*60A>G (n.*60A>G)
gnomAD v4
19g.11422812T>GCA404120427ODAD3c.1166A>C (p.Glu389Ala)
c.593A>C (p.Glu198Ala)
c.986A>C (p.Glu329Ala)
c.*1085A>C (n.*1085A>C)
c.1004A>C (p.Glu335Ala)
c.*60A>C (n.*60A>C)
19g.11422813C>ACA404120433ODAD3c.1165G>T (p.Glu389Ter)
c.592G>T (p.Glu198Ter)
c.985G>T (p.Glu329Ter)
c.*1084G>T (n.*1084G>T)
c.1003G>T (p.Glu335Ter)
c.*59G>T (n.*59G>T)
19g.11422813C>GCA404120431ODAD3c.1165G>C (p.Glu389Gln)
c.592G>C (p.Glu198Gln)
c.985G>C (p.Glu329Gln)
c.*1084G>C (n.*1084G>C)
c.1003G>C (p.Glu335Gln)
c.*59G>C (n.*59G>C)
19g.11422813C>TCA404120429ODAD3c.1165G>A (p.Glu389Lys)
c.592G>A (p.Glu198Lys)
c.985G>A (p.Glu329Lys)
c.*1084G>A (n.*1084G>A)
c.1003G>A (p.Glu335Lys)
c.*59G>A (n.*59G>A)
gnomAD v4
19g.11422814C>ACA404120437ODAD3c.1164G>T (p.Leu388Phe)
c.591G>T (p.Leu197Phe)
c.984G>T (p.Leu328Phe)
c.*1083G>T (n.*1083G>T)
c.1002G>T (p.Leu334Phe)
c.*58G>T (n.*58G>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.11422814C=CA2322925031ODAD3c.1164G= (p.Leu388=)
c.591G= (p.Leu197=)
c.984G= (p.Leu328=)
c.*1083G= (n.*1083G=)
c.1002G= (p.Leu334=)
c.*58G= (n.*58G=)
19g.11422814C>GCA404120438ODAD3c.1164G>C (p.Leu388Phe)
c.591G>C (p.Leu197Phe)
c.984G>C (p.Leu328Phe)
c.*1083G>C (n.*1083G>C)
c.1002G>C (p.Leu334Phe)
c.*58G>C (n.*58G>C)
19g.11422814C>TCA9212098ODAD3c.1164G>A (p.Leu388=)
c.591G>A (p.Leu197=)
c.984G>A (p.Leu328=)
c.*1083G>A (n.*1083G>A)
c.1002G>A (p.Leu334=)
c.*58G>A (n.*58G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422815A>CCA404120441ODAD3c.1163T>G (p.Leu388Trp)
c.590T>G (p.Leu197Trp)
c.983T>G (p.Leu328Trp)
c.*1082T>G (n.*1082T>G)
c.1001T>G (p.Leu334Trp)
c.*57T>G (n.*57T>G)
gnomAD v4
19g.11422815A>GCA404120443ODAD3c.1163T>C (p.Leu388Ser)
c.590T>C (p.Leu197Ser)
c.983T>C (p.Leu328Ser)
c.*1082T>C (n.*1082T>C)
c.1001T>C (p.Leu334Ser)
c.*57T>C (n.*57T>C)
19g.11422815A>TCA404120444ODAD3c.1163T>A (p.Leu388Ter)
c.590T>A (p.Leu197Ter)
c.983T>A (p.Leu328Ter)
c.*1082T>A (n.*1082T>A)
c.1001T>A (p.Leu334Ter)
c.*57T>A (n.*57T>A)
19g.11422816A=CA2322925032ODAD3c.1162T= (p.Leu388=)
c.589T= (p.Leu197=)
c.982T= (p.Leu328=)
c.*1081T= (n.*1081T=)
c.1000T= (p.Leu334=)
c.*56T= (n.*56T=)
19g.11422816A>CCA404120446ODAD3c.1162T>G (p.Leu388Val)
c.589T>G (p.Leu197Val)
c.982T>G (p.Leu328Val)
c.*1081T>G (n.*1081T>G)
c.1000T>G (p.Leu334Val)
c.*56T>G (n.*56T>G)
dbSNP
19g.11422816A>GCA505749510ODAD3c.1162T>C (p.Leu388=)
c.589T>C (p.Leu197=)
c.982T>C (p.Leu328=)
c.*1081T>C (n.*1081T>C)
c.1000T>C (p.Leu334=)
c.*56T>C (n.*56T>C)
gnomAD v4
19g.11422816A>TCA404120448ODAD3c.1162T>A (p.Leu388Met)
c.589T>A (p.Leu197Met)
c.982T>A (p.Leu328Met)
c.*1081T>A (n.*1081T>A)
c.1000T>A (p.Leu334Met)
c.*56T>A (n.*56T>A)
19g.11422817C>ACA404120449ODAD3c.1161G>T (p.Gln387His)
c.588G>T (p.Gln196His)
c.981G>T (p.Gln327His)
c.*1080G>T (n.*1080G>T)
c.999G>T (p.Gln333His)
c.*55G>T (n.*55G>T)
19g.11422817C>GCA404120450ODAD3c.1161G>C (p.Gln387His)
c.588G>C (p.Gln196His)
c.981G>C (p.Gln327His)
c.*1080G>C (n.*1080G>C)
c.999G>C (p.Gln333His)
c.*55G>C (n.*55G>C)
19g.11422817C>TCA505749511ODAD3c.1161G>A (p.Gln387=)
c.588G>A (p.Gln196=)
c.981G>A (p.Gln327=)
c.*1080G>A (n.*1080G>A)
c.999G>A (p.Gln333=)
c.*55G>A (n.*55G>A)
19g.11422818T>ACA404120451ODAD3c.1160A>T (p.Gln387Leu)
c.587A>T (p.Gln196Leu)
c.980A>T (p.Gln327Leu)
c.*1079A>T (n.*1079A>T)
c.998A>T (p.Gln333Leu)
c.*54A>T (n.*54A>T)
19g.11422818T>CCA404120452ODAD3c.1160A>G (p.Gln387Arg)
c.587A>G (p.Gln196Arg)
c.980A>G (p.Gln327Arg)
c.*1079A>G (n.*1079A>G)
c.998A>G (p.Gln333Arg)
c.*54A>G (n.*54A>G)
19g.11422818T>GCA404120453ODAD3c.1160A>C (p.Gln387Pro)
c.587A>C (p.Gln196Pro)
c.980A>C (p.Gln327Pro)
c.*1079A>C (n.*1079A>C)
c.998A>C (p.Gln333Pro)
c.*54A>C (n.*54A>C)
gnomAD v4
19g.11422819G>ACA404120456ODAD3c.1159C>T (p.Gln387Ter)
c.586C>T (p.Gln196Ter)
c.979C>T (p.Gln327Ter)
c.*1078C>T (n.*1078C>T)
c.997C>T (p.Gln333Ter)
c.*53C>T (n.*53C>T)
19g.11422819G>CCA404120454ODAD3c.1159C>G (p.Gln387Glu)
c.586C>G (p.Gln196Glu)
c.979C>G (p.Gln327Glu)
c.*1078C>G (n.*1078C>G)
c.997C>G (p.Gln333Glu)
c.*53C>G (n.*53C>G)
19g.11422819G>TCA404120455ODAD3c.1159C>A (p.Gln387Lys)
c.586C>A (p.Gln196Lys)
c.979C>A (p.Gln327Lys)
c.*1078C>A (n.*1078C>A)
c.997C>A (p.Gln333Lys)
c.*53C>A (n.*53C>A)
gnomAD v4
19g.11422820C>ACA505749513ODAD3c.1158G>T (p.Ala386=)
c.585G>T (p.Ala195=)
c.978G>T (p.Ala326=)
c.*1077G>T (n.*1077G>T)
c.996G>T (p.Ala332=)
c.*52G>T (n.*52G>T)
dbSNP gnomAD v2
19g.11422820C=CA2322925033ODAD3c.1158G= (p.Ala386=)
c.585G= (p.Ala195=)
c.978G= (p.Ala326=)
c.*1077G= (n.*1077G=)
c.996G= (p.Ala332=)
c.*52G= (n.*52G=)
19g.11422820C>GCA505749514ODAD3c.1158G>C (p.Ala386=)
c.585G>C (p.Ala195=)
c.978G>C (p.Ala326=)
c.*1077G>C (n.*1077G>C)
c.996G>C (p.Ala332=)
c.*52G>C (n.*52G>C)
19g.11422820C>TCA505749515ODAD3c.1158G>A (p.Ala386=)
c.585G>A (p.Ala195=)
c.978G>A (p.Ala326=)
c.*1077G>A (n.*1077G>A)
c.996G>A (p.Ala332=)
c.*52G>A (n.*52G>A)
gnomAD v4
19g.11422821G>ACA9212099ODAD3c.1157C>T (p.Ala386Val)
c.584C>T (p.Ala195Val)
c.977C>T (p.Ala326Val)
c.*1076C>T (n.*1076C>T)
c.995C>T (p.Ala332Val)
c.*51C>T (n.*51C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422821G>CCA404120458ODAD3c.1157C>G (p.Ala386Gly)
c.584C>G (p.Ala195Gly)
c.977C>G (p.Ala326Gly)
c.*1076C>G (n.*1076C>G)
c.995C>G (p.Ala332Gly)
c.*51C>G (n.*51C>G)
19g.11422821G=CA2322925034ODAD3c.1157C= (p.Ala386=)
c.584C= (p.Ala195=)
c.977C= (p.Ala326=)
c.*1076C= (n.*1076C=)
c.995C= (p.Ala332=)
c.*51C= (n.*51C=)
19g.11422821G>TCA404120459ODAD3c.1157C>A (p.Ala386Glu)
c.584C>A (p.Ala195Glu)
c.977C>A (p.Ala326Glu)
c.*1076C>A (n.*1076C>A)
c.995C>A (p.Ala332Glu)
c.*51C>A (n.*51C>A)
gnomAD v4
19g.11422822C>ACA404120462ODAD3c.1156G>T (p.Ala386Ser)
c.583G>T (p.Ala195Ser)
c.976G>T (p.Ala326Ser)
c.*1075G>T (n.*1075G>T)
c.994G>T (p.Ala332Ser)
c.*50G>T (n.*50G>T)
gnomAD v4
19g.11422822C>GCA404120463ODAD3c.1156G>C (p.Ala386Pro)
c.583G>C (p.Ala195Pro)
c.976G>C (p.Ala326Pro)
c.*1075G>C (n.*1075G>C)
c.994G>C (p.Ala332Pro)
c.*50G>C (n.*50G>C)
19g.11422822C>TCA404120465ODAD3c.1156G>A (p.Ala386Thr)
c.583G>A (p.Ala195Thr)
c.976G>A (p.Ala326Thr)
c.*1075G>A (n.*1075G>A)
c.994G>A (p.Ala332Thr)
c.*50G>A (n.*50G>A)

Number of alleles fetched