Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.116012796C>ACA386898163MED13Lc.1280+1G>T (n.1280+1G>T)
c.1250+1G>T (n.1250+1G>T)
c.708+1G>T
c.1187+1G>T (n.1187+1G>T)
n.1044+1G>T
12g.116012796C>GCA386898164MED13Lc.1280+1G>C (n.1280+1G>C)
c.1250+1G>C (n.1250+1G>C)
c.708+1G>C
c.1187+1G>C (n.1187+1G>C)
n.1044+1G>C
12g.116012796C>TCA386898165MED13Lc.1280+1G>A (n.1280+1G>A)
c.1250+1G>A (n.1250+1G>A)
c.708+1G>A
c.1187+1G>A (n.1187+1G>A)
n.1044+1G>A
 ClinVar
12g.116012797C>ACA386898166MED13Lc.1280G>T (p.Arg427Met)
c.1250G>T (p.Arg417Met)
c.708G>T
c.1187G>T (p.Arg396Met)
n.1044G>T
12g.116012797C=CA2065381461MED13Lc.1280G= (p.Arg427=)
c.1250G= (p.Arg417=)
c.708G=
c.1187G= (p.Arg396=)
n.1044G=
12g.116012797C>GCA386898168MED13Lc.1280G>C (p.Arg427Thr)
c.1250G>C (p.Arg417Thr)
c.708G>C
c.1187G>C (p.Arg396Thr)
n.1044G>C
12g.116012797C>TCA386898167MED13Lc.1280G>A (p.Arg427Lys)
c.1250G>A (p.Arg417Lys)
c.708G>A
c.1187G>A (p.Arg396Lys)
n.1044G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.116012798T>ACA386898169MED13Lc.1279A>T (p.Arg427Trp)
c.1249A>T (p.Arg417Trp)
c.707A>T
c.1186A>T (p.Arg396Trp)
n.1043A>T
12g.116012798T>CCA386898170MED13Lc.1279A>G (p.Arg427Gly)
c.1249A>G (p.Arg417Gly)
c.707A>G
c.1186A>G (p.Arg396Gly)
n.1043A>G
12g.116012798T>GCA481951108MED13Lc.1279A>C (p.Arg427=)
c.1249A>C (p.Arg417=)
c.707A>C
c.1186A>C (p.Arg396=)
n.1043A>C
12g.116012799G>ACA481951109MED13Lc.1278C>T (p.Ser426=)
c.1248C>T (p.Ser416=)
c.706C>T
c.1185C>T (p.Ser395=)
n.1042C>T
 dbSNP gnomAD v4
12g.116012799G>CCA481951110MED13Lc.1278C>G (p.Ser426=)
c.1248C>G (p.Ser416=)
c.706C>G
c.1185C>G (p.Ser395=)
n.1042C>G
12g.116012799G=CA2065381463MED13Lc.1278C= (p.Ser426=)
c.1248C= (p.Ser416=)
c.706C=
c.1185C= (p.Ser395=)
n.1042C=
12g.116012799G>TCA481951111MED13Lc.1278C>A (p.Ser426=)
c.1248C>A (p.Ser416=)
c.706C>A
c.1185C>A (p.Ser395=)
n.1042C>A
12g.116012800G>ACA386898171MED13Lc.1277C>T (p.Ser426Phe)
c.1247C>T (p.Ser416Phe)
c.705C>T
c.1184C>T (p.Ser395Phe)
n.1041C>T
12g.116012800G>CCA386898172MED13Lc.1277C>G (p.Ser426Cys)
c.1247C>G (p.Ser416Cys)
c.705C>G
c.1184C>G (p.Ser395Cys)
n.1041C>G
 gnomAD v4
12g.116012800G=CA2065381471MED13Lc.1277C= (p.Ser426=)
c.1247C= (p.Ser416=)
c.705C=
c.1184C= (p.Ser395=)
n.1041C=
12g.116012800G>TCA386898173MED13Lc.1277C>A (p.Ser426Tyr)
c.1247C>A (p.Ser416Tyr)
c.705C>A
c.1184C>A (p.Ser395Tyr)
n.1041C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116012801A>CCA386898174MED13Lc.1276T>G (p.Ser426Ala)
c.1246T>G (p.Ser416Ala)
c.704T>G
c.1183T>G (p.Ser395Ala)
n.1040T>G
12g.116012801A>GCA386898175MED13Lc.1276T>C (p.Ser426Pro)
c.1246T>C (p.Ser416Pro)
c.704T>C
c.1183T>C (p.Ser395Pro)
n.1040T>C
12g.116012801A>TCA386898176MED13Lc.1276T>A (p.Ser426Thr)
c.1246T>A (p.Ser416Thr)
c.704T>A
c.1183T>A (p.Ser395Thr)
n.1040T>A
12g.116012802A>CCA386898177MED13Lc.1275T>G (p.Cys425Trp)
c.1245T>G (p.Cys415Trp)
c.703T>G
c.1182T>G (p.Cys394Trp)
n.1039T>G
12g.116012802A>GCA481951112MED13Lc.1275T>C (p.Cys425=)
c.1245T>C (p.Cys415=)
c.703T>C
c.1182T>C (p.Cys394=)
n.1039T>C
 gnomAD v4
12g.116012802A>TCA386898178MED13Lc.1275T>A (p.Cys425Ter)
c.1245T>A (p.Cys415Ter)
c.703T>A
c.1182T>A (p.Cys394Ter)
n.1039T>A
12g.116012803C>ACA386898179MED13Lc.1274G>T (p.Cys425Phe)
c.1244G>T (p.Cys415Phe)
c.702G>T
c.1181G>T (p.Cys394Phe)
n.1038G>T
12g.116012803C=CA2065381476MED13Lc.1274G= (p.Cys425=)
c.1244G= (p.Cys415=)
c.702G=
c.1181G= (p.Cys394=)
n.1038G=
12g.116012803C>GCA386898180MED13Lc.1274G>C (p.Cys425Ser)
c.1244G>C (p.Cys415Ser)
c.702G>C
c.1181G>C (p.Cys394Ser)
n.1038G>C
 ClinVar dbSNP gnomAD v4
12g.116012803C>TCA386898181MED13Lc.1274G>A (p.Cys425Tyr)
c.1244G>A (p.Cys415Tyr)
c.702G>A
c.1181G>A (p.Cys394Tyr)
n.1038G>A
 dbSNP
12g.116012803_116012806delinsCAAGCA2065381475MED13Lc.1271_1274delinsCTTG (p.Ser424=)
c.1241_1244delinsCTTG (p.Ser414=)
c.699_702delinsCTTG
c.1178_1181delinsCTTG (p.Ser393=)
n.1035_1038delinsCTTG
12g.116012804A>CCA386898182MED13Lc.1273T>G (p.Cys425Gly)
c.1243T>G (p.Cys415Gly)
c.701T>G
c.1180T>G (p.Cys394Gly)
n.1037T>G
12g.116012804A>GCA386898184MED13Lc.1273T>C (p.Cys425Arg)
c.1243T>C (p.Cys415Arg)
c.701T>C
c.1180T>C (p.Cys394Arg)
n.1037T>C
12g.116012804A>TCA386898183MED13Lc.1273T>A (p.Cys425Ser)
c.1243T>A (p.Cys415Ser)
c.701T>A
c.1180T>A (p.Cys394Ser)
n.1037T>A
12g.116012806_116012808delCA607656063MED13Lc.1271_1273del (p.Ser424del)
c.1241_1243del (p.Ser414del)
c.699_701del
c.1178_1180del (p.Ser393del)
n.1035_1037del
 dbSNP gnomAD v2 gnomAD v4
12g.116012805A>CCA481951115MED13Lc.1272T>G (p.Ser424=)
c.1242T>G (p.Ser414=)
c.700T>G
c.1179T>G (p.Ser393=)
n.1036T>G
 gnomAD v4
12g.116012805A>GCA481951113MED13Lc.1272T>C (p.Ser424=)
c.1242T>C (p.Ser414=)
c.700T>C
c.1179T>C (p.Ser393=)
n.1036T>C
 gnomAD v4
12g.116012805A>TCA481951114MED13Lc.1272T>A (p.Ser424=)
c.1242T>A (p.Ser414=)
c.700T>A
c.1179T>A (p.Ser393=)
n.1036T>A
12g.116012806G>ACA386898185MED13Lc.1271C>T (p.Ser424Phe)
c.1241C>T (p.Ser414Phe)
c.699C>T
c.1178C>T (p.Ser393Phe)
n.1035C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116012806G>CCA386898186MED13Lc.1271C>G (p.Ser424Cys)
c.1241C>G (p.Ser414Cys)
c.699C>G
c.1178C>G (p.Ser393Cys)
n.1035C>G
12g.116012806G=CA2065381489MED13Lc.1271C= (p.Ser424=)
c.1241C= (p.Ser414=)
c.699C=
c.1178C= (p.Ser393=)
n.1035C=
12g.116012806G>TCA386898187MED13Lc.1271C>A (p.Ser424Tyr)
c.1241C>A (p.Ser414Tyr)
c.699C>A
c.1178C>A (p.Ser393Tyr)
n.1035C>A
 ClinVar
12g.116012807A>CCA386898188MED13Lc.1270T>G (p.Ser424Ala)
c.1240T>G (p.Ser414Ala)
c.698T>G
c.1177T>G (p.Ser393Ala)
n.1034T>G
12g.116012807A>GCA386898189MED13Lc.1270T>C (p.Ser424Pro)
c.1240T>C (p.Ser414Pro)
c.698T>C
c.1177T>C (p.Ser393Pro)
n.1034T>C
12g.116012807A>TCA386898190MED13Lc.1270T>A (p.Ser424Thr)
c.1240T>A (p.Ser414Thr)
c.698T>A
c.1177T>A (p.Ser393Thr)
n.1034T>A
12g.116012808A=CA2065381492MED13Lc.1269T= (p.Cys423=)
c.1239T= (p.Cys413=)
c.697T=
c.1176T= (p.Cys392=)
n.1033T=
12g.116012808A>CCA386898191MED13Lc.1269T>G (p.Cys423Trp)
c.1239T>G (p.Cys413Trp)
c.697T>G
c.1176T>G (p.Cys392Trp)
n.1033T>G
12g.116012808A>GCA481951116MED13Lc.1269T>C (p.Cys423=)
c.1239T>C (p.Cys413=)
c.697T>C
c.1176T>C (p.Cys392=)
n.1033T>C
 dbSNP gnomAD v2 gnomAD v4
12g.116012808A>TCA386898192MED13Lc.1269T>A (p.Cys423Ter)
c.1239T>A (p.Cys413Ter)
c.697T>A
c.1176T>A (p.Cys392Ter)
n.1033T>A
12g.116012809C>ACA386898193MED13Lc.1268G>T (p.Cys423Phe)
c.1238G>T (p.Cys413Phe)
c.696G>T
c.1175G>T (p.Cys392Phe)
n.1032G>T
12g.116012809C>GCA386898194MED13Lc.1268G>C (p.Cys423Ser)
c.1238G>C (p.Cys413Ser)
c.696G>C
c.1175G>C (p.Cys392Ser)
n.1032G>C
12g.116012809C>TCA386898195MED13Lc.1268G>A (p.Cys423Tyr)
c.1238G>A (p.Cys413Tyr)
c.696G>A
c.1175G>A (p.Cys392Tyr)
n.1032G>A
12g.116012810A>CCA386898198MED13Lc.1267T>G (p.Cys423Gly)
c.1237T>G (p.Cys413Gly)
c.695T>G
c.1174T>G (p.Cys392Gly)
n.1031T>G
 ClinVar
12g.116012810A>GCA386898197MED13Lc.1267T>C (p.Cys423Arg)
c.1237T>C (p.Cys413Arg)
c.695T>C
c.1174T>C (p.Cys392Arg)
n.1031T>C
12g.116012810A>TCA386898196MED13Lc.1267T>A (p.Cys423Ser)
c.1237T>A (p.Cys413Ser)
c.695T>A
c.1174T>A (p.Cys392Ser)
n.1031T>A
12g.116012811G>ACA481951117MED13Lc.1266C>T (p.Ser422=)
c.1236C>T (p.Ser412=)
c.694C>T
c.1173C>T (p.Ser391=)
n.1030C>T
12g.116012811G>CCA386898200MED13Lc.1266C>G (p.Ser422Arg)
c.1236C>G (p.Ser412Arg)
c.694C>G
c.1173C>G (p.Ser391Arg)
n.1030C>G
12g.116012811G>TCA386898199MED13Lc.1266C>A (p.Ser422Arg)
c.1236C>A (p.Ser412Arg)
c.694C>A
c.1173C>A (p.Ser391Arg)
n.1030C>A
 gnomAD v4
12g.116012812C>ACA386898202MED13Lc.1265G>T (p.Ser422Ile)
c.1235G>T (p.Ser412Ile)
c.693G>T
c.1172G>T (p.Ser391Ile)
n.1029G>T
12g.116012812C>GCA386898201MED13Lc.1265G>C (p.Ser422Thr)
c.1235G>C (p.Ser412Thr)
c.693G>C
c.1172G>C (p.Ser391Thr)
n.1029G>C
12g.116012812C>TCA386898203MED13Lc.1265G>A (p.Ser422Asn)
c.1235G>A (p.Ser412Asn)
c.693G>A
c.1172G>A (p.Ser391Asn)
n.1029G>A
12g.116012813T>ACA386898204MED13Lc.1264A>T (p.Ser422Cys)
c.1234A>T (p.Ser412Cys)
c.692A>T
c.1171A>T (p.Ser391Cys)
n.1028A>T
12g.116012813T>CCA386898205MED13Lc.1264A>G (p.Ser422Gly)
c.1234A>G (p.Ser412Gly)
c.692A>G
c.1171A>G (p.Ser391Gly)
n.1028A>G
12g.116012813T>GCA386898206MED13Lc.1264A>C (p.Ser422Arg)
c.1234A>C (p.Ser412Arg)
c.692A>C
c.1171A>C (p.Ser391Arg)
n.1028A>C
12g.116012814G>ACA481951118MED13Lc.1263C>T (p.Val421=)
c.1233C>T (p.Val411=)
c.691C>T
c.1170C>T (p.Val390=)
n.1027C>T
12g.116012814G>CCA481951119MED13Lc.1263C>G (p.Val421=)
c.1233C>G (p.Val411=)
c.691C>G
c.1170C>G (p.Val390=)
n.1027C>G
12g.116012814G>TCA481951120MED13Lc.1263C>A (p.Val421=)
c.1233C>A (p.Val411=)
c.691C>A
c.1170C>A (p.Val390=)
n.1027C>A
12g.116012815A>CCA386898207MED13Lc.1262T>G (p.Val421Gly)
c.1232T>G (p.Val411Gly)
c.690T>G
c.1169T>G (p.Val390Gly)
n.1026T>G
12g.116012815A>GCA386898208MED13Lc.1262T>C (p.Val421Ala)
c.1232T>C (p.Val411Ala)
c.690T>C
c.1169T>C (p.Val390Ala)
n.1026T>C
12g.116012815A>TCA386898209MED13Lc.1262T>A (p.Val421Asp)
c.1232T>A (p.Val411Asp)
c.690T>A
c.1169T>A (p.Val390Asp)
n.1026T>A
12g.116012816C>ACA386898210MED13Lc.1261G>T (p.Val421Phe)
c.1231G>T (p.Val411Phe)
c.689G>T
c.1168G>T (p.Val390Phe)
n.1025G>T
12g.116012816C=CA2065381495MED13Lc.1261G= (p.Val421=)
c.1231G= (p.Val411=)
c.689G=
c.1168G= (p.Val390=)
n.1025G=
12g.116012816C>GCA386898211MED13Lc.1261G>C (p.Val421Leu)
c.1231G>C (p.Val411Leu)
c.689G>C
c.1168G>C (p.Val390Leu)
n.1025G>C
12g.116012816C>TCA244167804MED13Lc.1261G>A (p.Val421Ile)
c.1231G>A (p.Val411Ile)
c.689G>A
c.1168G>A (p.Val390Ile)
n.1025G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.116012817T>ACA386898212MED13Lc.1260A>T (p.Arg420Ser)
c.1230A>T (p.Arg410Ser)
c.688A>T
c.1167A>T (p.Arg389Ser)
n.1024A>T
12g.116012817T>CCA6811459MED13Lc.1260A>G (p.Arg420=)
c.1230A>G (p.Arg410=)
c.688A>G
c.1167A>G (p.Arg389=)
n.1024A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012817T>GCA386898213MED13Lc.1260A>C (p.Arg420Ser)
c.1230A>C (p.Arg410Ser)
c.688A>C
c.1167A>C (p.Arg389Ser)
n.1024A>C
 ClinVar dbSNP gnomAD v4
12g.116012817T=CA2065381499MED13Lc.1260A= (p.Arg420=)
c.1230A= (p.Arg410=)
c.688A=
c.1167A= (p.Arg389=)
n.1024A=
12g.116012818C>ACA386898214MED13Lc.1259G>T (p.Arg420Ile)
c.1229G>T (p.Arg410Ile)
c.687G>T
c.1166G>T (p.Arg389Ile)
n.1023G>T
12g.116012818C>GCA386898216MED13Lc.1259G>C (p.Arg420Thr)
c.1229G>C (p.Arg410Thr)
c.687G>C
c.1166G>C (p.Arg389Thr)
n.1023G>C
12g.116012818C>TCA386898215MED13Lc.1259G>A (p.Arg420Lys)
c.1229G>A (p.Arg410Lys)
c.687G>A
c.1166G>A (p.Arg389Lys)
n.1023G>A
12g.116012819T>ACA386898217MED13Lc.1258A>T (p.Arg420Ter)
c.1228A>T (p.Arg410Ter)
c.686A>T
c.1165A>T (p.Arg389Ter)
n.1022A>T
12g.116012819T>CCA386898218MED13Lc.1258A>G (p.Arg420Gly)
c.1228A>G (p.Arg410Gly)
c.686A>G
c.1165A>G (p.Arg389Gly)
n.1022A>G
12g.116012819T>GCA481951121MED13Lc.1258A>C (p.Arg420=)
c.1228A>C (p.Arg410=)
c.686A>C
c.1165A>C (p.Arg389=)
n.1022A>C
12g.116012820T>ACA386898219MED13Lc.1257A>T (p.Gln419His)
c.1227A>T (p.Gln409His)
c.685A>T
c.1164A>T (p.Gln388His)
n.1021A>T
12g.116012820T>CCA481951122MED13Lc.1257A>G (p.Gln419=)
c.1227A>G (p.Gln409=)
c.685A>G
c.1164A>G (p.Gln388=)
n.1021A>G
 dbSNP gnomAD v3 gnomAD v4
12g.116012820T>GCA386898220MED13Lc.1257A>C (p.Gln419His)
c.1227A>C (p.Gln409His)
c.685A>C
c.1164A>C (p.Gln388His)
n.1021A>C
12g.116012820T=CA2065381505MED13Lc.1257A= (p.Gln419=)
c.1227A= (p.Gln409=)
c.685A=
c.1164A= (p.Gln388=)
n.1021A=
12g.116012821T>ACA386898221MED13Lc.1256A>T (p.Gln419Leu)
c.1226A>T (p.Gln409Leu)
c.684A>T
c.1163A>T (p.Gln388Leu)
n.1020A>T
12g.116012821T>CCA6811460MED13Lc.1256A>G (p.Gln419Arg)
c.1226A>G (p.Gln409Arg)
c.684A>G
c.1163A>G (p.Gln388Arg)
n.1020A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012821T>GCA386898222MED13Lc.1256A>C (p.Gln419Pro)
c.1226A>C (p.Gln409Pro)
c.684A>C
c.1163A>C (p.Gln388Pro)
n.1020A>C
12g.116012821T=CA2065381511MED13Lc.1256A= (p.Gln419=)
c.1226A= (p.Gln409=)
c.684A=
c.1163A= (p.Gln388=)
n.1020A=
12g.116012822G>ACA386898223MED13Lc.1255C>T (p.Gln419Ter)
c.1225C>T (p.Gln409Ter)
c.683C>T
c.1162C>T (p.Gln388Ter)
n.1019C>T
12g.116012822G>CCA386898224MED13Lc.1255C>G (p.Gln419Glu)
c.1225C>G (p.Gln409Glu)
c.683C>G
c.1162C>G (p.Gln388Glu)
n.1019C>G
12g.116012822G>TCA386898225MED13Lc.1255C>A (p.Gln419Lys)
c.1225C>A (p.Gln409Lys)
c.683C>A
c.1162C>A (p.Gln388Lys)
n.1019C>A
12g.116012823G>ACA481951125MED13Lc.1254C>T (p.Thr418=)
c.1224C>T (p.Thr408=)
c.682C>T
c.1161C>T (p.Thr387=)
n.1018C>T
12g.116012823G>CCA481951124MED13Lc.1254C>G (p.Thr418=)
c.1224C>G (p.Thr408=)
c.682C>G
c.1161C>G (p.Thr387=)
n.1018C>G
12g.116012823G>TCA481951123MED13Lc.1254C>A (p.Thr418=)
c.1224C>A (p.Thr408=)
c.682C>A
c.1161C>A (p.Thr387=)
n.1018C>A
 gnomAD v4
12g.116012824G>ACA386898227MED13Lc.1253C>T (p.Thr418Ile)
c.1223C>T (p.Thr408Ile)
c.681C>T
c.1160C>T (p.Thr387Ile)
n.1017C>T
12g.116012824G>CCA386898228MED13Lc.1253C>G (p.Thr418Ser)
c.1223C>G (p.Thr408Ser)
c.681C>G
c.1160C>G (p.Thr387Ser)
n.1017C>G
12g.116012824G>TCA386898226MED13Lc.1253C>A (p.Thr418Asn)
c.1223C>A (p.Thr408Asn)
c.681C>A
c.1160C>A (p.Thr387Asn)
n.1017C>A
12g.116012825T>ACA386898229MED13Lc.1252A>T (p.Thr418Ser)
c.1222A>T (p.Thr408Ser)
c.680A>T
c.1159A>T (p.Thr387Ser)
n.1016A>T
12g.116012825T>CCA386898230MED13Lc.1252A>G (p.Thr418Ala)
c.1222A>G (p.Thr408Ala)
c.680A>G
c.1159A>G (p.Thr387Ala)
n.1016A>G
12g.116012825T>GCA386898231MED13Lc.1252A>C (p.Thr418Pro)
c.1222A>C (p.Thr408Pro)
c.680A>C
c.1159A>C (p.Thr387Pro)
n.1016A>C
12g.116012826T>ACA481951126MED13Lc.1251A>T (p.Pro417=)
c.1221A>T (p.Pro407=)
c.679A>T
c.1158A>T (p.Pro386=)
n.1015A>T
12g.116012826T>CCA481951128MED13Lc.1251A>G (p.Pro417=)
c.1221A>G (p.Pro407=)
c.679A>G
c.1158A>G (p.Pro386=)
n.1015A>G
12g.116012826T>GCA481951127MED13Lc.1251A>C (p.Pro417=)
c.1221A>C (p.Pro407=)
c.679A>C
c.1158A>C (p.Pro386=)
n.1015A>C
 COSMIC
12g.116012827G>ACA6811461MED13Lc.1250C>T (p.Pro417Leu)
c.1220C>T (p.Pro407Leu)
c.678C>T
c.1157C>T (p.Pro386Leu)
n.1014C>T
 dbSNP ExAC gnomAD v2
12g.116012827G>CCA386898232MED13Lc.1250C>G (p.Pro417Arg)
c.1220C>G (p.Pro407Arg)
c.678C>G
c.1157C>G (p.Pro386Arg)
n.1014C>G
12g.116012827G=CA2065381514MED13Lc.1250C= (p.Pro417=)
c.1220C= (p.Pro407=)
c.678C=
c.1157C= (p.Pro386=)
n.1014C=
12g.116012827G>TCA386898233MED13Lc.1250C>A (p.Pro417Gln)
c.1220C>A (p.Pro407Gln)
c.678C>A
c.1157C>A (p.Pro386Gln)
n.1014C>A
12g.116012828G>ACA386898234MED13Lc.1249C>T (p.Pro417Ser)
c.1219C>T (p.Pro407Ser)
c.677C>T
c.1156C>T (p.Pro386Ser)
n.1013C>T
12g.116012828G>CCA386898235MED13Lc.1249C>G (p.Pro417Ala)
c.1219C>G (p.Pro407Ala)
c.677C>G
c.1156C>G (p.Pro386Ala)
n.1013C>G
12g.116012828G>TCA386898236MED13Lc.1249C>A (p.Pro417Thr)
c.1219C>A (p.Pro407Thr)
c.677C>A
c.1156C>A (p.Pro386Thr)
n.1013C>A
 gnomAD v4 COSMIC
12g.116012829A>CCA386898237MED13Lc.1248T>G (p.Asp416Glu)
c.1218T>G (p.Asp406Glu)
c.676T>G
c.1155T>G (p.Asp385Glu)
n.1012T>G
12g.116012829A>GCA481951129MED13Lc.1248T>C (p.Asp416=)
c.1218T>C (p.Asp406=)
c.676T>C
c.1155T>C (p.Asp385=)
n.1012T>C
12g.116012829A>TCA386898238MED13Lc.1248T>A (p.Asp416Glu)
c.1218T>A (p.Asp406Glu)
c.676T>A
c.1155T>A (p.Asp385Glu)
n.1012T>A
12g.116012830T>ACA386898240MED13Lc.1247A>T (p.Asp416Val)
c.1217A>T (p.Asp406Val)
c.675A>T
c.1154A>T (p.Asp385Val)
n.1011A>T
 gnomAD v4
12g.116012830T>CCA386898241MED13Lc.1247A>G (p.Asp416Gly)
c.1217A>G (p.Asp406Gly)
c.675A>G
c.1154A>G (p.Asp385Gly)
n.1011A>G
12g.116012830T>GCA386898239MED13Lc.1247A>C (p.Asp416Ala)
c.1217A>C (p.Asp406Ala)
c.675A>C
c.1154A>C (p.Asp385Ala)
n.1011A>C
12g.116012831C>ACA386898242MED13Lc.1246G>T (p.Asp416Tyr)
c.1216G>T (p.Asp406Tyr)
c.674G>T
c.1153G>T (p.Asp385Tyr)
n.1010G>T
12g.116012831C>GCA386898243MED13Lc.1246G>C (p.Asp416His)
c.1216G>C (p.Asp406His)
c.674G>C
c.1153G>C (p.Asp385His)
n.1010G>C
12g.116012831C>TCA386898244MED13Lc.1246G>A (p.Asp416Asn)
c.1216G>A (p.Asp406Asn)
c.674G>A
c.1153G>A (p.Asp385Asn)
n.1010G>A
12g.116012832C>ACA481951130MED13Lc.1245G>T (p.Val415=)
c.1215G>T (p.Val405=)
c.673G>T
c.1152G>T (p.Val384=)
n.1009G>T
12g.116012832C=CA2065381517MED13Lc.1245G= (p.Val415=)
c.1215G= (p.Val405=)
c.673G=
c.1152G= (p.Val384=)
n.1009G=
12g.116012832C>GCA481951132MED13Lc.1245G>C (p.Val415=)
c.1215G>C (p.Val405=)
c.673G>C
c.1152G>C (p.Val384=)
n.1009G>C
12g.116012832C>TCA481951131MED13Lc.1245G>A (p.Val415=)
c.1215G>A (p.Val405=)
c.673G>A
c.1152G>A (p.Val384=)
n.1009G>A
 dbSNP
12g.116012833A>CCA386898245MED13Lc.1244T>G (p.Val415Gly)
c.1214T>G (p.Val405Gly)
c.672T>G
c.1151T>G (p.Val384Gly)
n.1008T>G
12g.116012833A>GCA386898246MED13Lc.1244T>C (p.Val415Ala)
c.1214T>C (p.Val405Ala)
c.672T>C
c.1151T>C (p.Val384Ala)
n.1008T>C
12g.116012833A>TCA386898247MED13Lc.1244T>A (p.Val415Glu)
c.1214T>A (p.Val405Glu)
c.672T>A
c.1151T>A (p.Val384Glu)
n.1008T>A
12g.116012834C>ACA386898248MED13Lc.1243G>T (p.Val415Leu)
c.1213G>T (p.Val405Leu)
c.671G>T
c.1150G>T (p.Val384Leu)
n.1007G>T
12g.116012834C>GCA386898250MED13Lc.1243G>C (p.Val415Leu)
c.1213G>C (p.Val405Leu)
c.671G>C
c.1150G>C (p.Val384Leu)
n.1007G>C
 dbSNP
12g.116012834C>TCA386898249MED13Lc.1243G>A (p.Val415Met)
c.1213G>A (p.Val405Met)
c.671G>A
c.1150G>A (p.Val384Met)
n.1007G>A
12g.116012835A>CCA386898251MED13Lc.1242T>G (p.Phe414Leu)
c.1212T>G (p.Phe404Leu)
c.670T>G
c.1149T>G (p.Phe383Leu)
n.1006T>G
12g.116012835A>GCA481951133MED13Lc.1242T>C (p.Phe414=)
c.1212T>C (p.Phe404=)
c.670T>C
c.1149T>C (p.Phe383=)
n.1006T>C
12g.116012835A>TCA386898252MED13Lc.1242T>A (p.Phe414Leu)
c.1212T>A (p.Phe404Leu)
c.670T>A
c.1149T>A (p.Phe383Leu)
n.1006T>A
12g.116012836A>CCA386898253MED13Lc.1241T>G (p.Phe414Cys)
c.1211T>G (p.Phe404Cys)
c.669T>G
c.1148T>G (p.Phe383Cys)
n.1005T>G
12g.116012836A>GCA386898254MED13Lc.1241T>C (p.Phe414Ser)
c.1211T>C (p.Phe404Ser)
c.669T>C
c.1148T>C (p.Phe383Ser)
n.1005T>C
12g.116012836A>TCA386898255MED13Lc.1241T>A (p.Phe414Tyr)
c.1211T>A (p.Phe404Tyr)
c.669T>A
c.1148T>A (p.Phe383Tyr)
n.1005T>A
12g.116012837A>CCA386898257MED13Lc.1240T>G (p.Phe414Val)
c.1210T>G (p.Phe404Val)
c.668T>G
c.1147T>G (p.Phe383Val)
n.1004T>G
12g.116012837A>GCA386898258MED13Lc.1240T>C (p.Phe414Leu)
c.1210T>C (p.Phe404Leu)
c.668T>C
c.1147T>C (p.Phe383Leu)
n.1004T>C
12g.116012837A>TCA386898256MED13Lc.1240T>A (p.Phe414Ile)
c.1210T>A (p.Phe404Ile)
c.668T>A
c.1147T>A (p.Phe383Ile)
n.1004T>A
12g.116012838A>CCA386898260MED13Lc.1239T>G (p.Asp413Glu)
c.1209T>G (p.Asp403Glu)
c.667T>G
c.1146T>G (p.Asp382Glu)
n.1003T>G
12g.116012838A>GCA481951134MED13Lc.1239T>C (p.Asp413=)
c.1209T>C (p.Asp403=)
c.667T>C
c.1146T>C (p.Asp382=)
n.1003T>C
12g.116012838A>TCA386898259MED13Lc.1239T>A (p.Asp413Glu)
c.1209T>A (p.Asp403Glu)
c.667T>A
c.1146T>A (p.Asp382Glu)
n.1003T>A
12g.116012839delCA658785067MED13Lc.1238del (p.Asp413ValfsTer19)
c.1208del (p.Asp403ValfsTer19)
c.666del
c.1145del (p.Asp382ValfsTer19)
n.1002del
12g.116012839T>ACA386898261MED13Lc.1238A>T (p.Asp413Val)
c.1208A>T (p.Asp403Val)
c.666A>T
c.1145A>T (p.Asp382Val)
n.1002A>T
12g.116012839T>CCA386898262MED13Lc.1238A>G (p.Asp413Gly)
c.1208A>G (p.Asp403Gly)
c.666A>G
c.1145A>G (p.Asp382Gly)
n.1002A>G
12g.116012839T>GCA386898263MED13Lc.1238A>C (p.Asp413Ala)
c.1208A>C (p.Asp403Ala)
c.666A>C
c.1145A>C (p.Asp382Ala)
n.1002A>C
12g.116012840C>ACA6811462MED13Lc.1237G>T (p.Asp413Tyr)
c.1207G>T (p.Asp403Tyr)
c.665G>T
c.1144G>T (p.Asp382Tyr)
n.1001G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012840C=CA2065381520MED13Lc.1237G= (p.Asp413=)
c.1207G= (p.Asp403=)
c.665G=
c.1144G= (p.Asp382=)
n.1001G=
12g.116012840C>GCA386898264MED13Lc.1237G>C (p.Asp413His)
c.1207G>C (p.Asp403His)
c.665G>C
c.1144G>C (p.Asp382His)
n.1001G>C
12g.116012840C>TCA386898265MED13Lc.1237G>A (p.Asp413Asn)
c.1207G>A (p.Asp403Asn)
c.665G>A
c.1144G>A (p.Asp382Asn)
n.1001G>A
 gnomAD v4
12g.116012841C>ACA386898266MED13Lc.1236G>T (p.Trp412Cys)
c.1206G>T (p.Trp402Cys)
c.664G>T
c.1143G>T (p.Trp381Cys)
n.1000G>T
12g.116012841C>GCA386898267MED13Lc.1236G>C (p.Trp412Cys)
c.1206G>C (p.Trp402Cys)
c.664G>C
c.1143G>C (p.Trp381Cys)
n.1000G>C
12g.116012841C>TCA386898268MED13Lc.1236G>A (p.Trp412Ter)
c.1206G>A (p.Trp402Ter)
c.664G>A
c.1143G>A (p.Trp381Ter)
n.1000G>A
12g.116012842C>ACA386898269MED13Lc.1235G>T (p.Trp412Leu)
c.1205G>T (p.Trp402Leu)
c.663G>T
c.1142G>T (p.Trp381Leu)
n.999G>T
12g.116012842C>GCA386898270MED13Lc.1235G>C (p.Trp412Ser)
c.1205G>C (p.Trp402Ser)
c.663G>C
c.1142G>C (p.Trp381Ser)
n.999G>C
12g.116012842C>TCA386898271MED13Lc.1235G>A (p.Trp412Ter)
c.1205G>A (p.Trp402Ter)
c.663G>A
c.1142G>A (p.Trp381Ter)
n.999G>A
12g.116012843A=CA2065381524MED13Lc.1234T= (p.Trp412=)
c.1204T= (p.Trp402=)
c.662T=
c.1141T= (p.Trp381=)
n.998T=
12g.116012843A>CCA386898274MED13Lc.1234T>G (p.Trp412Gly)
c.1204T>G (p.Trp402Gly)
c.662T>G
c.1141T>G (p.Trp381Gly)
n.998T>G
 dbSNP gnomAD v2 gnomAD v4
12g.116012843A>GCA386898272MED13Lc.1234T>C (p.Trp412Arg)
c.1204T>C (p.Trp402Arg)
c.662T>C
c.1141T>C (p.Trp381Arg)
n.998T>C
12g.116012843A>TCA386898273MED13Lc.1234T>A (p.Trp412Arg)
c.1204T>A (p.Trp402Arg)
c.662T>A
c.1141T>A (p.Trp381Arg)
n.998T>A
12g.116012844A=CA2065381527MED13Lc.1233T= (p.Thr411=)
c.1203T= (p.Thr401=)
c.661T=
c.1140T= (p.Thr380=)
n.997T=
12g.116012844A>CCA481951135MED13Lc.1233T>G (p.Thr411=)
c.1203T>G (p.Thr401=)
c.661T>G
c.1140T>G (p.Thr380=)
n.997T>G
12g.116012844A>GCA481951136MED13Lc.1233T>C (p.Thr411=)
c.1203T>C (p.Thr401=)
c.661T>C
c.1140T>C (p.Thr380=)
n.997T>C
 dbSNP
12g.116012844A>TCA481951137MED13Lc.1233T>A (p.Thr411=)
c.1203T>A (p.Thr401=)
c.661T>A
c.1140T>A (p.Thr380=)
n.997T>A
12g.116012845G>ACA386898275MED13Lc.1232C>T (p.Thr411Ile)
c.1202C>T (p.Thr401Ile)
c.660C>T
c.1139C>T (p.Thr380Ile)
n.996C>T
12g.116012845G>CCA386898276MED13Lc.1232C>G (p.Thr411Ser)
c.1202C>G (p.Thr401Ser)
c.660C>G
c.1139C>G (p.Thr380Ser)
n.996C>G
12g.116012845G>TCA386898277MED13Lc.1232C>A (p.Thr411Asn)
c.1202C>A (p.Thr401Asn)
c.660C>A
c.1139C>A (p.Thr380Asn)
n.996C>A
12g.116012846T>ACA386898278MED13Lc.1231A>T (p.Thr411Ser)
c.1201A>T (p.Thr401Ser)
c.659A>T
c.1138A>T (p.Thr380Ser)
n.995A>T
12g.116012846T>CCA6811463MED13Lc.1231A>G (p.Thr411Ala)
c.1201A>G (p.Thr401Ala)
c.659A>G
c.1138A>G (p.Thr380Ala)
n.995A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012846T>GCA386898279MED13Lc.1231A>C (p.Thr411Pro)
c.1201A>C (p.Thr401Pro)
c.659A>C
c.1138A>C (p.Thr380Pro)
n.995A>C
12g.116012846T=CA2065381530MED13Lc.1231A= (p.Thr411=)
c.1201A= (p.Thr401=)
c.659A=
c.1138A= (p.Thr380=)
n.995A=
12g.116012847A>CCA481951138MED13Lc.1230T>G (p.Ala410=)
c.1200T>G (p.Ala400=)
c.658T>G
c.1137T>G (p.Ala379=)
n.994T>G
12g.116012847A>GCA481951140MED13Lc.1230T>C (p.Ala410=)
c.1200T>C (p.Ala400=)
c.658T>C
c.1137T>C (p.Ala379=)
n.994T>C
12g.116012847A>TCA481951139MED13Lc.1230T>A (p.Ala410=)
c.1200T>A (p.Ala400=)
c.658T>A
c.1137T>A (p.Ala379=)
n.994T>A
12g.116012848G>ACA386898280MED13Lc.1229C>T (p.Ala410Val)
c.1199C>T (p.Ala400Val)
c.657C>T
c.1136C>T (p.Ala379Val)
n.993C>T
12g.116012848G>CCA386898281MED13Lc.1229C>G (p.Ala410Gly)
c.1199C>G (p.Ala400Gly)
c.657C>G
c.1136C>G (p.Ala379Gly)
n.993C>G
12g.116012848G>TCA386898282MED13Lc.1229C>A (p.Ala410Asp)
c.1199C>A (p.Ala400Asp)
c.657C>A
c.1136C>A (p.Ala379Asp)
n.993C>A
12g.116012849C>ACA386898283MED13Lc.1228G>T (p.Ala410Ser)
c.1198G>T (p.Ala400Ser)
c.656G>T
c.1135G>T (p.Ala379Ser)
n.992G>T
12g.116012849C>GCA386898284MED13Lc.1228G>C (p.Ala410Pro)
c.1198G>C (p.Ala400Pro)
c.656G>C
c.1135G>C (p.Ala379Pro)
n.992G>C
12g.116012849C>TCA386898285MED13Lc.1228G>A (p.Ala410Thr)
c.1198G>A (p.Ala400Thr)
c.656G>A
c.1135G>A (p.Ala379Thr)
n.992G>A
12g.116012850A>CCA481951141MED13Lc.1227T>G (p.Pro409=)
c.1197T>G (p.Pro399=)
c.655T>G
c.1134T>G (p.Pro378=)
n.991T>G
12g.116012850A>GCA481951142MED13Lc.1227T>C (p.Pro409=)
c.1197T>C (p.Pro399=)
c.655T>C
c.1134T>C (p.Pro378=)
n.991T>C
12g.116012850A>TCA481951143MED13Lc.1227T>A (p.Pro409=)
c.1197T>A (p.Pro399=)
c.655T>A
c.1134T>A (p.Pro378=)
n.991T>A
12g.116012851G>ACA386898288MED13Lc.1226C>T (p.Pro409Leu)
c.1196C>T (p.Pro399Leu)
c.654C>T
c.1133C>T (p.Pro378Leu)
n.990C>T
 ClinVar
12g.116012851G>CCA386898287MED13Lc.1226C>G (p.Pro409Arg)
c.1196C>G (p.Pro399Arg)
c.654C>G
c.1133C>G (p.Pro378Arg)
n.990C>G
12g.116012851G>TCA386898286MED13Lc.1226C>A (p.Pro409His)
c.1196C>A (p.Pro399His)
c.654C>A
c.1133C>A (p.Pro378His)
n.990C>A
12g.116012852G>ACA386898289MED13Lc.1225C>T (p.Pro409Ser)
c.1195C>T (p.Pro399Ser)
c.653C>T
c.1132C>T (p.Pro378Ser)
n.989C>T
 gnomAD v4
12g.116012852G>CCA386898290MED13Lc.1225C>G (p.Pro409Ala)
c.1195C>G (p.Pro399Ala)
c.653C>G
c.1132C>G (p.Pro378Ala)
n.989C>G
 gnomAD v4
12g.116012852G>TCA386898291MED13Lc.1225C>A (p.Pro409Thr)
c.1195C>A (p.Pro399Thr)
c.653C>A
c.1132C>A (p.Pro378Thr)
n.989C>A
12g.116012853A>CCA386898292MED13Lc.1224T>G (p.Asn408Lys)
c.1194T>G (p.Asn398Lys)
c.652T>G
c.1131T>G (p.Asn377Lys)
n.988T>G
12g.116012853A>GCA481951144MED13Lc.1224T>C (p.Asn408=)
c.1194T>C (p.Asn398=)
c.652T>C
c.1131T>C (p.Asn377=)
n.988T>C
12g.116012853A>TCA386898293MED13Lc.1224T>A (p.Asn408Lys)
c.1194T>A (p.Asn398Lys)
c.652T>A
c.1131T>A (p.Asn377Lys)
n.988T>A
12g.116012854T>ACA386898294MED13Lc.1223A>T (p.Asn408Ile)
c.1193A>T (p.Asn398Ile)
c.651A>T
c.1130A>T (p.Asn377Ile)
n.987A>T
12g.116012854T>CCA6811464MED13Lc.1223A>G (p.Asn408Ser)
c.1193A>G (p.Asn398Ser)
c.651A>G
c.1130A>G (p.Asn377Ser)
n.987A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012854T>GCA386898295MED13Lc.1223A>C (p.Asn408Thr)
c.1193A>C (p.Asn398Thr)
c.651A>C
c.1130A>C (p.Asn377Thr)
n.987A>C
12g.116012854T=CA2065381533MED13Lc.1223A= (p.Asn408=)
c.1193A= (p.Asn398=)
c.651A=
c.1130A= (p.Asn377=)
n.987A=
12g.116012855T>ACA386898296MED13Lc.1222A>T (p.Asn408Tyr)
c.1192A>T (p.Asn398Tyr)
c.650A>T
c.1129A>T (p.Asn377Tyr)
n.986A>T
 gnomAD v4
12g.116012855T>CCA6811465MED13Lc.1222A>G (p.Asn408Asp)
c.1192A>G (p.Asn398Asp)
c.650A>G
c.1129A>G (p.Asn377Asp)
n.986A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012855T>GCA386898297MED13Lc.1222A>C (p.Asn408His)
c.1192A>C (p.Asn398His)
c.650A>C
c.1129A>C (p.Asn377His)
n.986A>C
12g.116012855T=CA2065381537MED13Lc.1222A= (p.Asn408=)
c.1192A= (p.Asn398=)
c.650A=
c.1129A= (p.Asn377=)
n.986A=
12g.116012856G>ACA481951145MED13Lc.1221C>T (p.Ser407=)
c.1191C>T (p.Ser397=)
c.649C>T
c.1128C>T (p.Ser376=)
n.985C>T
12g.116012856G>CCA244167819MED13Lc.1221C>G (p.Ser407Arg)
c.1191C>G (p.Ser397Arg)
c.649C>G
c.1128C>G (p.Ser376Arg)
n.985C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116012856G=CA2065381542MED13Lc.1221C= (p.Ser407=)
c.1191C= (p.Ser397=)
c.649C=
c.1128C= (p.Ser376=)
n.985C=
12g.116012856G>TCA386898298MED13Lc.1221C>A (p.Ser407Arg)
c.1191C>A (p.Ser397Arg)
c.649C>A
c.1128C>A (p.Ser376Arg)
n.985C>A
12g.116012857C>ACA386898301MED13Lc.1220G>T (p.Ser407Ile)
c.1190G>T (p.Ser397Ile)
c.648G>T
c.1127G>T (p.Ser376Ile)
n.984G>T
12g.116012857C>GCA386898299MED13Lc.1220G>C (p.Ser407Thr)
c.1190G>C (p.Ser397Thr)
c.648G>C
c.1127G>C (p.Ser376Thr)
n.984G>C
12g.116012857C>TCA386898300MED13Lc.1220G>A (p.Ser407Asn)
c.1190G>A (p.Ser397Asn)
c.648G>A
c.1127G>A (p.Ser376Asn)
n.984G>A
12g.116012858T>ACA386898302MED13Lc.1219A>T (p.Ser407Cys)
c.1189A>T (p.Ser397Cys)
c.647A>T
c.1126A>T (p.Ser376Cys)
n.983A>T
12g.116012858T>CCA6811466MED13Lc.1219A>G (p.Ser407Gly)
c.1189A>G (p.Ser397Gly)
c.647A>G
c.1126A>G (p.Ser376Gly)
n.983A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012858T>GCA386898303MED13Lc.1219A>C (p.Ser407Arg)
c.1189A>C (p.Ser397Arg)
c.647A>C
c.1126A>C (p.Ser376Arg)
n.983A>C
12g.116012858T=CA2065381550MED13Lc.1219A= (p.Ser407=)
c.1189A= (p.Ser397=)
c.647A=
c.1126A= (p.Ser376=)
n.983A=
12g.116012859A>CCA481951146MED13Lc.1218T>G (p.Ala406=)
c.1188T>G (p.Ala396=)
c.646T>G
c.1125T>G (p.Ala375=)
n.982T>G
12g.116012859A>GCA481951147MED13Lc.1218T>C (p.Ala406=)
c.1188T>C (p.Ala396=)
c.646T>C
c.1125T>C (p.Ala375=)
n.982T>C
12g.116012859A>TCA481951148MED13Lc.1218T>A (p.Ala406=)
c.1188T>A (p.Ala396=)
c.646T>A
c.1125T>A (p.Ala375=)
n.982T>A
12g.116012859dupCA2573053609MED13Lc.1218dup (p.Ser407Ter)
c.1188dup (p.Ser397Ter)
c.646dup
c.1125dup (p.Ser376Ter)
n.982dup
 ClinVar dbSNP
12g.116012860G>ACA386898304MED13Lc.1217C>T (p.Ala406Val)
c.1187C>T (p.Ala396Val)
c.645C>T
c.1124C>T (p.Ala375Val)
n.981C>T
12g.116012860G>CCA386898305MED13Lc.1217C>G (p.Ala406Gly)
c.1187C>G (p.Ala396Gly)
c.645C>G
c.1124C>G (p.Ala375Gly)
n.981C>G
12g.116012860G>TCA386898306MED13Lc.1217C>A (p.Ala406Asp)
c.1187C>A (p.Ala396Asp)
c.645C>A
c.1124C>A (p.Ala375Asp)
n.981C>A
12g.116012861C>ACA386898307MED13Lc.1216G>T (p.Ala406Ser)
c.1186G>T (p.Ala396Ser)
c.644G>T
c.1123G>T (p.Ala375Ser)
n.980G>T
12g.116012861C>GCA386898308MED13Lc.1216G>C (p.Ala406Pro)
c.1186G>C (p.Ala396Pro)
c.644G>C
c.1123G>C (p.Ala375Pro)
n.980G>C
12g.116012861C>TCA386898309MED13Lc.1216G>A (p.Ala406Thr)
c.1186G>A (p.Ala396Thr)
c.644G>A
c.1123G>A (p.Ala375Thr)
n.980G>A
 COSMIC
12g.116012862A=CA2065381553MED13Lc.1215T= (p.Pro405=)
c.1185T= (p.Pro395=)
c.643T=
c.1122T= (p.Pro374=)
n.979T=
12g.116012862A>CCA6811467MED13Lc.1215T>G (p.Pro405=)
c.1185T>G (p.Pro395=)
c.643T>G
c.1122T>G (p.Pro374=)
n.979T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012862A>GCA481951149MED13Lc.1215T>C (p.Pro405=)
c.1185T>C (p.Pro395=)
c.643T>C
c.1122T>C (p.Pro374=)
n.979T>C
12g.116012862A>TCA481951150MED13Lc.1215T>A (p.Pro405=)
c.1185T>A (p.Pro395=)
c.643T>A
c.1122T>A (p.Pro374=)
n.979T>A
12g.116012863G>ACA386898310MED13Lc.1214C>T (p.Pro405Leu)
c.1184C>T (p.Pro395Leu)
c.642C>T
c.1121C>T (p.Pro374Leu)
n.978C>T
 dbSNP
12g.116012863G>CCA386898311MED13Lc.1214C>G (p.Pro405Arg)
c.1184C>G (p.Pro395Arg)
c.642C>G
c.1121C>G (p.Pro374Arg)
n.978C>G
 gnomAD v4
12g.116012863G=CA2065381557MED13Lc.1214C= (p.Pro405=)
c.1184C= (p.Pro395=)
c.642C=
c.1121C= (p.Pro374=)
n.978C=
12g.116012863G>TCA386898312MED13Lc.1214C>A (p.Pro405His)
c.1184C>A (p.Pro395His)
c.642C>A
c.1121C>A (p.Pro374His)
n.978C>A
12g.116012864G>ACA386898314MED13Lc.1213C>T (p.Pro405Ser)
c.1183C>T (p.Pro395Ser)
c.641C>T
c.1120C>T (p.Pro374Ser)
n.977C>T
 COSMIC
12g.116012864G>CCA386898315MED13Lc.1213C>G (p.Pro405Ala)
c.1183C>G (p.Pro395Ala)
c.641C>G
c.1120C>G (p.Pro374Ala)
n.977C>G
 gnomAD v4
12g.116012864G>TCA386898313MED13Lc.1213C>A (p.Pro405Thr)
c.1183C>A (p.Pro395Thr)
c.641C>A
c.1120C>A (p.Pro374Thr)
n.977C>A
12g.116012865C>ACA386898316MED13Lc.1212G>T (p.Glu404Asp)
c.1182G>T (p.Glu394Asp)
c.640G>T
c.1119G>T (p.Glu373Asp)
n.976G>T
12g.116012865C>GCA386898317MED13Lc.1212G>C (p.Glu404Asp)
c.1182G>C (p.Glu394Asp)
c.640G>C
c.1119G>C (p.Glu373Asp)
n.976G>C
12g.116012865C>TCA481951151MED13Lc.1212G>A (p.Glu404=)
c.1182G>A (p.Glu394=)
c.640G>A
c.1119G>A (p.Glu373=)
n.976G>A
12g.116012866T>ACA386898318MED13Lc.1211A>T (p.Glu404Val)
c.1181A>T (p.Glu394Val)
c.639A>T
c.1118A>T (p.Glu373Val)
n.975A>T
12g.116012866T>CCA386898320MED13Lc.1211A>G (p.Glu404Gly)
c.1181A>G (p.Glu394Gly)
c.639A>G
c.1118A>G (p.Glu373Gly)
n.975A>G
12g.116012866T>GCA386898319MED13Lc.1211A>C (p.Glu404Ala)
c.1181A>C (p.Glu394Ala)
c.639A>C
c.1118A>C (p.Glu373Ala)
n.975A>C
12g.116012867C>ACA386898321MED13Lc.1210G>T (p.Glu404Ter)
c.1180G>T (p.Glu394Ter)
c.638G>T
c.1117G>T (p.Glu373Ter)
n.974G>T
12g.116012867C>GCA386898323MED13Lc.1210G>C (p.Glu404Gln)
c.1180G>C (p.Glu394Gln)
c.638G>C
c.1117G>C (p.Glu373Gln)
n.974G>C
12g.116012867C>TCA386898322MED13Lc.1210G>A (p.Glu404Lys)
c.1180G>A (p.Glu394Lys)
c.638G>A
c.1117G>A (p.Glu373Lys)
n.974G>A
12g.116012868T>ACA386898324MED13Lc.1209A>T (p.Glu403Asp)
c.1179A>T (p.Glu393Asp)
c.637A>T
c.1116A>T (p.Glu372Asp)
n.973A>T
12g.116012868T>CCA481951152MED13Lc.1209A>G (p.Glu403=)
c.1179A>G (p.Glu393=)
c.637A>G
c.1116A>G (p.Glu372=)
n.973A>G
12g.116012868T>GCA386898325MED13Lc.1209A>C (p.Glu403Asp)
c.1179A>C (p.Glu393Asp)
c.637A>C
c.1116A>C (p.Glu372Asp)
n.973A>C
12g.116012869T>ACA386898326MED13Lc.1208A>T (p.Glu403Val)
c.1178A>T (p.Glu393Val)
c.636A>T
c.1115A>T (p.Glu372Val)
n.972A>T
12g.116012869T>CCA386898327MED13Lc.1208A>G (p.Glu403Gly)
c.1178A>G (p.Glu393Gly)
c.636A>G
c.1115A>G (p.Glu372Gly)
n.972A>G
12g.116012869T>GCA386898328MED13Lc.1208A>C (p.Glu403Ala)
c.1178A>C (p.Glu393Ala)
c.636A>C
c.1115A>C (p.Glu372Ala)
n.972A>C
12g.116012870C>ACA386898329MED13Lc.1207G>T (p.Glu403Ter)
c.1177G>T (p.Glu393Ter)
c.635G>T
c.1114G>T (p.Glu372Ter)
n.971G>T
12g.116012870C=CA2065381561MED13Lc.1207G= (p.Glu403=)
c.1177G= (p.Glu393=)
c.635G=
c.1114G= (p.Glu372=)
n.971G=
12g.116012870C>GCA386898330MED13Lc.1207G>C (p.Glu403Gln)
c.1177G>C (p.Glu393Gln)
c.635G>C
c.1114G>C (p.Glu372Gln)
n.971G>C
12g.116012870C>TCA6811468MED13Lc.1207G>A (p.Glu403Lys)
c.1177G>A (p.Glu393Lys)
c.635G>A
c.1114G>A (p.Glu372Lys)
n.971G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.116012871T>ACA386898331MED13Lc.1206A>T (p.Glu402Asp)
c.1176A>T (p.Glu392Asp)
c.634A>T
c.1113A>T (p.Glu371Asp)
n.970A>T
 gnomAD v4
12g.116012871T>CCA481951153MED13Lc.1206A>G (p.Glu402=)
c.1176A>G (p.Glu392=)
c.634A>G
c.1113A>G (p.Glu371=)
n.970A>G
 gnomAD v4
12g.116012871T>GCA386898332MED13Lc.1206A>C (p.Glu402Asp)
c.1176A>C (p.Glu392Asp)
c.634A>C
c.1113A>C (p.Glu371Asp)
n.970A>C
12g.116012872T>ACA386898333MED13Lc.1205A>T (p.Glu402Val)
c.1175A>T (p.Glu392Val)
c.633A>T
c.1112A>T (p.Glu371Val)
n.969A>T
12g.116012872T>CCA386898334MED13Lc.1205A>G (p.Glu402Gly)
c.1175A>G (p.Glu392Gly)
c.633A>G
c.1112A>G (p.Glu371Gly)
n.969A>G
12g.116012872T>GCA386898335MED13Lc.1205A>C (p.Glu402Ala)
c.1175A>C (p.Glu392Ala)
c.633A>C
c.1112A>C (p.Glu371Ala)
n.969A>C
12g.116012873C>ACA386898336MED13Lc.1204G>T (p.Glu402Ter)
c.1174G>T (p.Glu392Ter)
c.632G>T
c.1111G>T (p.Glu371Ter)
n.968G>T
12g.116012873C>GCA386898338MED13Lc.1204G>C (p.Glu402Gln)
c.1174G>C (p.Glu392Gln)
c.632G>C
c.1111G>C (p.Glu371Gln)
n.968G>C
12g.116012873C>TCA386898337MED13Lc.1204G>A (p.Glu402Lys)
c.1174G>A (p.Glu392Lys)
c.632G>A
c.1111G>A (p.Glu371Lys)
n.968G>A
12g.116012874A>CCA481951154MED13Lc.1203T>G (p.Leu401=)
c.1173T>G (p.Leu391=)
c.631T>G
c.1110T>G (p.Leu370=)
n.967T>G
12g.116012874A>GCA481951155MED13Lc.1203T>C (p.Leu401=)
c.1173T>C (p.Leu391=)
c.631T>C
c.1110T>C (p.Leu370=)
n.967T>C
12g.116012874A>TCA481951156MED13Lc.1203T>A (p.Leu401=)
c.1173T>A (p.Leu391=)
c.631T>A
c.1110T>A (p.Leu370=)
n.967T>A
12g.116012875A=CA2065381563MED13Lc.1202T= (p.Leu401=)
c.1172T= (p.Leu391=)
c.630T=
c.1109T= (p.Leu370=)
n.966T=
12g.116012875A>CCA386898339MED13Lc.1202T>G (p.Leu401Arg)
c.1172T>G (p.Leu391Arg)
c.630T>G
c.1109T>G (p.Leu370Arg)
n.966T>G
12g.116012875A>GCA386898340MED13Lc.1202T>C (p.Leu401Pro)
c.1172T>C (p.Leu391Pro)
c.630T>C
c.1109T>C (p.Leu370Pro)
n.966T>C
 dbSNP
12g.116012875A>TCA386898341MED13Lc.1202T>A (p.Leu401His)
c.1172T>A (p.Leu391His)
c.630T>A
c.1109T>A (p.Leu370His)
n.966T>A
12g.116012876G>ACA386898342MED13Lc.1201C>T (p.Leu401Phe)
c.1171C>T (p.Leu391Phe)
c.629C>T
c.1108C>T (p.Leu370Phe)
n.965C>T
12g.116012876G>CCA386898343MED13Lc.1201C>G (p.Leu401Val)
c.1171C>G (p.Leu391Val)
c.629C>G
c.1108C>G (p.Leu370Val)
n.965C>G
12g.116012876G>TCA386898344MED13Lc.1201C>A (p.Leu401Ile)
c.1171C>A (p.Leu391Ile)
c.629C>A
c.1108C>A (p.Leu370Ile)
n.965C>A
12g.116012877A>CCA481951157MED13Lc.1200T>G (p.Thr400=)
c.1170T>G (p.Thr390=)
c.628T>G
c.1107T>G (p.Thr369=)
n.964T>G
12g.116012877A>GCA481951158MED13Lc.1200T>C (p.Thr400=)
c.1170T>C (p.Thr390=)
c.628T>C
c.1107T>C (p.Thr369=)
n.964T>C
12g.116012877A>TCA481951159MED13Lc.1200T>A (p.Thr400=)
c.1170T>A (p.Thr390=)
c.628T>A
c.1107T>A (p.Thr369=)
n.964T>A
12g.116012878G>ACA386898345MED13Lc.1199C>T (p.Thr400Ile)
c.1169C>T (p.Thr390Ile)
c.627C>T
c.1106C>T (p.Thr369Ile)
n.963C>T
12g.116012878G>CCA386898346MED13Lc.1199C>G (p.Thr400Ser)
c.1169C>G (p.Thr390Ser)
c.627C>G
c.1106C>G (p.Thr369Ser)
n.963C>G
12g.116012878G>TCA386898347MED13Lc.1199C>A (p.Thr400Asn)
c.1169C>A (p.Thr390Asn)
c.627C>A
c.1106C>A (p.Thr369Asn)
n.963C>A
12g.116012879T>ACA386898349MED13Lc.1198A>T (p.Thr400Ser)
c.1168A>T (p.Thr390Ser)
c.626A>T
c.1105A>T (p.Thr369Ser)
n.962A>T
 gnomAD v4
12g.116012879T>CCA6811469MED13Lc.1198A>G (p.Thr400Ala)
c.1168A>G (p.Thr390Ala)
c.626A>G
c.1105A>G (p.Thr369Ala)
n.962A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012879T>GCA386898348MED13Lc.1198A>C (p.Thr400Pro)
c.1168A>C (p.Thr390Pro)
c.626A>C
c.1105A>C (p.Thr369Pro)
n.962A>C
12g.116012879T=CA2065381567MED13Lc.1198A= (p.Thr400=)
c.1168A= (p.Thr390=)
c.626A=
c.1105A= (p.Thr369=)
n.962A=
12g.116012880T>ACA481951160MED13Lc.1197A>T (p.Pro399=)
c.1167A>T (p.Pro389=)
c.625A>T
c.1104A>T (p.Pro368=)
n.961A>T
12g.116012880T>CCA481951161MED13Lc.1197A>G (p.Pro399=)
c.1167A>G (p.Pro389=)
c.625A>G
c.1104A>G (p.Pro368=)
n.961A>G
12g.116012880T>GCA481951162MED13Lc.1197A>C (p.Pro399=)
c.1167A>C (p.Pro389=)
c.625A>C
c.1104A>C (p.Pro368=)
n.961A>C
 gnomAD v4
12g.116012881G>ACA386898350MED13Lc.1196C>T (p.Pro399Leu)
c.1166C>T (p.Pro389Leu)
c.624C>T
c.1103C>T (p.Pro368Leu)
n.960C>T
12g.116012881G>CCA386898351MED13Lc.1196C>G (p.Pro399Arg)
c.1166C>G (p.Pro389Arg)
c.624C>G
c.1103C>G (p.Pro368Arg)
n.960C>G
12g.116012881G>TCA386898352MED13Lc.1196C>A (p.Pro399Gln)
c.1166C>A (p.Pro389Gln)
c.624C>A
c.1103C>A (p.Pro368Gln)
n.960C>A
12g.116012882G>ACA386898353MED13Lc.1195C>T (p.Pro399Ser)
c.1165C>T (p.Pro389Ser)
c.623C>T
c.1102C>T (p.Pro368Ser)
n.959C>T
 ClinVar dbSNP
12g.116012882G>CCA386898354MED13Lc.1195C>G (p.Pro399Ala)
c.1165C>G (p.Pro389Ala)
c.623C>G
c.1102C>G (p.Pro368Ala)
n.959C>G
12g.116012882G=CA2065381572MED13Lc.1195C= (p.Pro399=)
c.1165C= (p.Pro389=)
c.623C=
c.1102C= (p.Pro368=)
n.959C=
12g.116012882G>TCA386898355MED13Lc.1195C>A (p.Pro399Thr)
c.1165C>A (p.Pro389Thr)
c.623C>A
c.1102C>A (p.Pro368Thr)
n.959C>A
12g.116012883A>CCA481951166MED13Lc.1194T>G (p.Thr398=)
c.1164T>G (p.Thr388=)
c.622T>G
c.1101T>G (p.Thr367=)
n.958T>G
12g.116012883A>GCA481951165MED13Lc.1194T>C (p.Thr398=)
c.1164T>C (p.Thr388=)
c.622T>C
c.1101T>C (p.Thr367=)
n.958T>C
12g.116012883A>TCA481951164MED13Lc.1194T>A (p.Thr398=)
c.1164T>A (p.Thr388=)
c.622T>A
c.1101T>A (p.Thr367=)
n.958T>A
12g.116012884G>ACA6811470MED13Lc.1193C>T (p.Thr398Ile)
c.1163C>T (p.Thr388Ile)
c.621C>T
c.1100C>T (p.Thr367Ile)
n.957C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012884G>CCA386898356MED13Lc.1193C>G (p.Thr398Ser)
c.1163C>G (p.Thr388Ser)
c.621C>G
c.1100C>G (p.Thr367Ser)
n.957C>G
12g.116012884G=CA2065381576MED13Lc.1193C= (p.Thr398=)
c.1163C= (p.Thr388=)
c.621C=
c.1100C= (p.Thr367=)
n.957C=
12g.116012884G>TCA386898357MED13Lc.1193C>A (p.Thr398Asn)
c.1163C>A (p.Thr388Asn)
c.621C>A
c.1100C>A (p.Thr367Asn)
n.957C>A
12g.116012885T>ACA386898358MED13Lc.1192A>T (p.Thr398Ser)
c.1162A>T (p.Thr388Ser)
c.620A>T
c.1099A>T (p.Thr367Ser)
n.956A>T
 dbSNP
12g.116012885T>CCA6811471MED13Lc.1192A>G (p.Thr398Ala)
c.1162A>G (p.Thr388Ala)
c.620A>G
c.1099A>G (p.Thr367Ala)
n.956A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012885T>GCA386898359MED13Lc.1192A>C (p.Thr398Pro)
c.1162A>C (p.Thr388Pro)
c.620A>C
c.1099A>C (p.Thr367Pro)
n.956A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.116012885T=CA2065381582MED13Lc.1192A= (p.Thr398=)
c.1162A= (p.Thr388=)
c.620A=
c.1099A= (p.Thr367=)
n.956A=
12g.116012886T>ACA481951167MED13Lc.1191A>T (p.Ser397=)
c.1161A>T (p.Ser387=)
c.619A>T
c.1098A>T (p.Ser366=)
n.955A>T
12g.116012886T>CCA481951168MED13Lc.1191A>G (p.Ser397=)
c.1161A>G (p.Ser387=)
c.619A>G
c.1098A>G (p.Ser366=)
n.955A>G
12g.116012886T>GCA481951169MED13Lc.1191A>C (p.Ser397=)
c.1161A>C (p.Ser387=)
c.619A>C
c.1098A>C (p.Ser366=)
n.955A>C
12g.116012887G>ACA386898362MED13Lc.1190C>T (p.Ser397Leu)
c.1160C>T (p.Ser387Leu)
c.618C>T
c.1097C>T (p.Ser366Leu)
n.954C>T
12g.116012887G>CCA386898360MED13Lc.1190C>G (p.Ser397Ter)
c.1160C>G (p.Ser387Ter)
c.618C>G
c.1097C>G (p.Ser366Ter)
n.954C>G
12g.116012887G>TCA386898361MED13Lc.1190C>A (p.Ser397Ter)
c.1160C>A (p.Ser387Ter)
c.618C>A
c.1097C>A (p.Ser366Ter)
n.954C>A
 gnomAD v4
12g.116012888A=CA2065381587MED13Lc.1189T= (p.Ser397=)
c.1159T= (p.Ser387=)
c.617T=
c.1096T= (p.Ser366=)
n.953T=
12g.116012888A>CCA386898363MED13Lc.1189T>G (p.Ser397Ala)
c.1159T>G (p.Ser387Ala)
c.617T>G
c.1096T>G (p.Ser366Ala)
n.953T>G
12g.116012888A>GCA6811472MED13Lc.1189T>C (p.Ser397Pro)
c.1159T>C (p.Ser387Pro)
c.617T>C
c.1096T>C (p.Ser366Pro)
n.953T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012888A>TCA386898364MED13Lc.1189T>A (p.Ser397Thr)
c.1159T>A (p.Ser387Thr)
c.617T>A
c.1096T>A (p.Ser366Thr)
n.953T>A
12g.116012889C>ACA386898365MED13Lc.1188G>T (p.Met396Ile)
c.1158G>T (p.Met386Ile)
c.616G>T
c.1095G>T (p.Met365Ile)
n.952G>T
12g.116012889C>GCA386898366MED13Lc.1188G>C (p.Met396Ile)
c.1158G>C (p.Met386Ile)
c.616G>C
c.1095G>C (p.Met365Ile)
n.952G>C
12g.116012889C>TCA386898367MED13Lc.1188G>A (p.Met396Ile)
c.1158G>A (p.Met386Ile)
c.616G>A
c.1095G>A (p.Met365Ile)
n.952G>A
12g.116012890A=CA2065381589MED13Lc.1187T= (p.Met396=)
c.1157T= (p.Met386=)
c.615T=
c.1094T= (p.Met365=)
n.951T=
12g.116012890A>CCA386898368MED13Lc.1187T>G (p.Met396Arg)
c.1157T>G (p.Met386Arg)
c.615T>G
c.1094T>G (p.Met365Arg)
n.951T>G
12g.116012890A>GCA6811473MED13Lc.1187T>C (p.Met396Thr)
c.1157T>C (p.Met386Thr)
c.615T>C
c.1094T>C (p.Met365Thr)
n.951T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116012890A>TCA386898369MED13Lc.1187T>A (p.Met396Lys)
c.1157T>A (p.Met386Lys)
c.615T>A
c.1094T>A (p.Met365Lys)
n.951T>A
 dbSNP
12g.116012890_116012891delinsATCA2065381591MED13Lc.1186_1187delinsAT (p.Met396=)
c.1156_1157delinsAT (p.Met386=)
c.614_615delinsAT
c.1093_1094delinsAT (p.Met365=)
n.950_951delinsAT
12g.116012891T>ACA386898370MED13Lc.1186A>T (p.Met396Leu)
c.1156A>T (p.Met386Leu)
c.614A>T
c.1093A>T (p.Met365Leu)
n.950A>T
12g.116012891T>CCA386898371MED13Lc.1186A>G (p.Met396Val)
c.1156A>G (p.Met386Val)
c.614A>G
c.1093A>G (p.Met365Val)
n.950A>G
 dbSNP gnomAD v4
12g.116012891T>GCA386898372MED13Lc.1186A>C (p.Met396Leu)
c.1156A>C (p.Met386Leu)
c.614A>C
c.1093A>C (p.Met365Leu)
n.950A>C
12g.116012893delCA16619446MED13Lc.1186del (p.Met396CysfsTer?)
c.1156del (p.Met386CysfsTer?)
c.614del
c.1093del (p.Met365CysfsTer?)
n.950del
 ClinVar dbSNP
12g.116012892T>ACA386898373MED13Lc.1185A>T (p.Gln395His)
c.1155A>T (p.Gln385His)
c.613A>T
c.1092A>T (p.Gln364His)
n.949A>T
12g.116012892T>CCA481951174MED13Lc.1185A>G (p.Gln395=)
c.1155A>G (p.Gln385=)
c.613A>G
c.1092A>G (p.Gln364=)
n.949A>G
 gnomAD v4
12g.116012892T>GCA6811474MED13Lc.1185A>C (p.Gln395His)
c.1155A>C (p.Gln385His)
c.613A>C
c.1092A>C (p.Gln364His)
n.949A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116012892T=CA2065381596MED13Lc.1185A= (p.Gln395=)
c.1155A= (p.Gln385=)
c.613A=
c.1092A= (p.Gln364=)
n.949A=
12g.116012893T>ACA386898374MED13Lc.1184A>T (p.Gln395Leu)
c.1154A>T (p.Gln385Leu)
c.612A>T
c.1091A>T (p.Gln364Leu)
n.948A>T
12g.116012893T>CCA386898376MED13Lc.1184A>G (p.Gln395Arg)
c.1154A>G (p.Gln385Arg)
c.612A>G
c.1091A>G (p.Gln364Arg)
n.948A>G
12g.116012893T>GCA386898375MED13Lc.1184A>C (p.Gln395Pro)
c.1154A>C (p.Gln385Pro)
c.612A>C
c.1091A>C (p.Gln364Pro)
n.948A>C
12g.116012894G>ACA386898377MED13Lc.1183C>T (p.Gln395Ter)
c.1153C>T (p.Gln385Ter)
c.611C>T
c.1090C>T (p.Gln364Ter)
n.947C>T
12g.116012894G>CCA386898378MED13Lc.1183C>G (p.Gln395Glu)
c.1153C>G (p.Gln385Glu)
c.611C>G
c.1090C>G (p.Gln364Glu)
n.947C>G
12g.116012894G>TCA386898379MED13Lc.1183C>A (p.Gln395Lys)
c.1153C>A (p.Gln385Lys)
c.611C>A
c.1090C>A (p.Gln364Lys)
n.947C>A
12g.116012895G>ACA481951176MED13Lc.1182C>T (p.Ser394=)
c.1152C>T (p.Ser384=)
c.610C>T
c.1089C>T (p.Ser363=)
n.946C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116012895G>CCA386898380MED13Lc.1182C>G (p.Ser394Arg)
c.1152C>G (p.Ser384Arg)
c.610C>G
c.1089C>G (p.Ser363Arg)
n.946C>G
12g.116012895G=CA2065381599MED13Lc.1182C= (p.Ser394=)
c.1152C= (p.Ser384=)
c.610C=
c.1089C= (p.Ser363=)
n.946C=
12g.116012895G>TCA386898381MED13Lc.1182C>A (p.Ser394Arg)
c.1152C>A (p.Ser384Arg)
c.610C>A
c.1089C>A (p.Ser363Arg)
n.946C>A
12g.116012896C>ACA386898382MED13Lc.1181G>T (p.Ser394Ile)
c.1151G>T (p.Ser384Ile)
c.609G>T
c.1088G>T (p.Ser363Ile)
n.945G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116012896C=CA2065381604MED13Lc.1181G= (p.Ser394=)
c.1151G= (p.Ser384=)
c.609G=
c.1088G= (p.Ser363=)
n.945G=
12g.116012896C>GCA386898383MED13Lc.1181G>C (p.Ser394Thr)
c.1151G>C (p.Ser384Thr)
c.609G>C
c.1088G>C (p.Ser363Thr)
n.945G>C
12g.116012896C>TCA386898384MED13Lc.1181G>A (p.Ser394Asn)
c.1151G>A (p.Ser384Asn)
c.609G>A
c.1088G>A (p.Ser363Asn)
n.945G>A
 dbSNP gnomAD v3 gnomAD v4
12g.116012901_116012903delCA2575306865MED13Lc.1179_1181del
c.1149_1151del
c.607_609del
c.1086_1088del
n.943_945del

Number of alleles fetched