Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113149224C>ACA388793479F10c.1174C>A (p.Leu392Met)
c.*165C>A (n.*165C>A)
c.1042C>A (p.Leu348Met)
13g.113149224C>GCA388793481F10c.1174C>G (p.Leu392Val)
c.*165C>G (n.*165C>G)
c.1042C>G (p.Leu348Val)
13g.113149224C>TCA485424211F10c.1174C>T (p.Leu392=)
c.*165C>T (n.*165C>T)
c.1042C>T (p.Leu348=)
13g.113149225T>ACA388793484F10c.1175T>A (p.Leu392Gln)
c.*166T>A (n.*166T>A)
c.1043T>A (p.Leu348Gln)
13g.113149225T>CCA388793487F10c.1175T>C (p.Leu392Pro)
c.*166T>C (n.*166T>C)
c.1043T>C (p.Leu348Pro)
13g.113149225T>GCA388793489F10c.1175T>G (p.Leu392Arg)
c.*166T>G (n.*166T>G)
c.1043T>G (p.Leu348Arg)
13g.113149226G>ACA485424221F10c.1176G>A (p.Leu392=)
c.*167G>A (n.*167G>A)
c.1044G>A (p.Leu348=)
13g.113149226G>CCA485424224F10c.1176G>C (p.Leu392=)
c.*167G>C (n.*167G>C)
c.1044G>C (p.Leu348=)
13g.113149226G>TCA485424226F10c.1176G>T (p.Leu392=)
c.*167G>T (n.*167G>T)
c.1044G>T (p.Leu348=)
13g.113149227T>ACA388793495F10c.1177T>A (p.Ser393Thr)
c.*168T>A (n.*168T>A)
c.1045T>A (p.Ser349Thr)
13g.113149227T>CCA388793493F10c.1177T>C (p.Ser393Pro)
c.*168T>C (n.*168T>C)
c.1045T>C (p.Ser349Pro)
13g.113149227T>GCA388793491F10c.1177T>G (p.Ser393Ala)
c.*168T>G (n.*168T>G)
c.1045T>G (p.Ser349Ala)
13g.113149228C>ACA388793498F10c.1178C>A (p.Ser393Tyr)
c.*169C>A (n.*169C>A)
c.1046C>A (p.Ser349Tyr)
13g.113149228C>GCA388793499F10c.1178C>G (p.Ser393Cys)
c.*169C>G (n.*169C>G)
c.1046C>G (p.Ser349Cys)
13g.113149228C>TCA388793501F10c.1178C>T (p.Ser393Phe)
c.*169C>T (n.*169C>T)
c.1046C>T (p.Ser349Phe)
13g.113149229C>ACA485424242F10c.1179C>A (p.Ser393=)
c.*170C>A (n.*170C>A)
c.1047C>A (p.Ser349=)
13g.113149229C>GCA485424244F10c.1179C>G (p.Ser393=)
c.*170C>G (n.*170C>G)
c.1047C>G (p.Ser349=)
13g.113149229C>TCA485424247F10c.1179C>T (p.Ser393=)
c.*170C>T (n.*170C>T)
c.1047C>T (p.Ser349=)
13g.113149230A>CCA388793505F10c.1180A>C (p.Ser394Arg)
c.*171A>C (n.*171A>C)
c.1048A>C (p.Ser350Arg)
 gnomAD v4
13g.113149230A>GCA388793507F10c.1180A>G (p.Ser394Gly)
c.*171A>G (n.*171A>G)
c.1048A>G (p.Ser350Gly)
13g.113149230A>TCA388793508F10c.1180A>T (p.Ser394Cys)
c.*171A>T (n.*171A>T)
c.1048A>T (p.Ser350Cys)
13g.113149231G>ACA388793516F10c.1181G>A (p.Ser394Asn)
c.*172G>A (n.*172G>A)
c.1049G>A (p.Ser350Asn)
13g.113149231G>CCA388793512F10c.1181G>C (p.Ser394Thr)
c.*172G>C (n.*172G>C)
c.1049G>C (p.Ser350Thr)
13g.113149231G>TCA388793515F10c.1181G>T (p.Ser394Ile)
c.*172G>T (n.*172G>T)
c.1049G>T (p.Ser350Ile)
13g.113149232C>ACA388793519F10c.1182C>A (p.Ser394Arg)
c.*173C>A (n.*173C>A)
c.1050C>A (p.Ser350Arg)
13g.113149232C>GCA388793522F10c.1182C>G (p.Ser394Arg)
c.*173C>G (n.*173C>G)
c.1050C>G (p.Ser350Arg)
13g.113149232C>TCA485424264F10c.1182C>T (p.Ser394=)
c.*173C>T (n.*173C>T)
c.1050C>T (p.Ser350=)
13g.113149233A>CCA388793523F10c.1183A>C (p.Ser395Arg)
c.*174A>C (n.*174A>C)
c.1051A>C (p.Ser351Arg)
13g.113149233A>GCA388793524F10c.1183A>G (p.Ser395Gly)
c.*174A>G (n.*174A>G)
c.1051A>G (p.Ser351Gly)
13g.113149233A>TCA388793525F10c.1183A>T (p.Ser395Cys)
c.*174A>T (n.*174A>T)
c.1051A>T (p.Ser351Cys)
13g.113149234G>ACA388793527F10c.1184G>A (p.Ser395Asn)
c.*175G>A (n.*175G>A)
c.1052G>A (p.Ser351Asn)
13g.113149234G>CCA388793530F10c.1184G>C (p.Ser395Thr)
c.*175G>C (n.*175G>C)
c.1052G>C (p.Ser351Thr)
13g.113149234G>TCA388793532F10c.1184G>T (p.Ser395Ile)
c.*175G>T (n.*175G>T)
c.1052G>T (p.Ser351Ile)
13g.113149235C>ACA388793534F10c.1185C>A (p.Ser395Arg)
c.*176C>A (n.*176C>A)
c.1053C>A (p.Ser351Arg)
13g.113149235C>GCA388793537F10c.1185C>G (p.Ser395Arg)
c.*176C>G (n.*176C>G)
c.1053C>G (p.Ser351Arg)
13g.113149235C>TCA485424282F10c.1185C>T (p.Ser395=)
c.*176C>T (n.*176C>T)
c.1053C>T (p.Ser351=)
 gnomAD v4
13g.113149236T>ACA388793539F10c.1186T>A (p.Phe396Ile)
c.*177T>A (n.*177T>A)
c.1054T>A (p.Phe352Ile)
13g.113149236T>CCA388793540F10c.1186T>C (p.Phe396Leu)
c.*177T>C (n.*177T>C)
c.1054T>C (p.Phe352Leu)
13g.113149236T>GCA388793542F10c.1186T>G (p.Phe396Val)
c.*177T>G (n.*177T>G)
c.1054T>G (p.Phe352Val)
13g.113149237T>ACA388793552F10c.1187T>A (p.Phe396Tyr)
c.*178T>A (n.*178T>A)
c.1055T>A (p.Phe352Tyr)
13g.113149237T>CCA388793547F10c.1187T>C (p.Phe396Ser)
c.*178T>C (n.*178T>C)
c.1055T>C (p.Phe352Ser)
13g.113149237T>GCA388793550F10c.1187T>G (p.Phe396Cys)
c.*178T>G (n.*178T>G)
c.1055T>G (p.Phe352Cys)
13g.113149238C>ACA388793553F10c.1188C>A (p.Phe396Leu)
c.*179C>A (n.*179C>A)
c.1056C>A (p.Phe352Leu)
13g.113149238C>GCA388793554F10c.1188C>G (p.Phe396Leu)
c.*179C>G (n.*179C>G)
c.1056C>G (p.Phe352Leu)
13g.113149238C>TCA485424302F10c.1188C>T (p.Phe396=)
c.*179C>T (n.*179C>T)
c.1056C>T (p.Phe352=)
13g.113149239A=CA2120140336F10c.1189A= (p.Ile397=)
c.*180A= (n.*180A=)
c.1057A= (p.Ile353=)
13g.113149239A>CCA388793557F10c.1189A>C (p.Ile397Leu)
c.*180A>C (n.*180A>C)
c.1057A>C (p.Ile353Leu)
13g.113149239A>GCA256478714F10c.1189A>G (p.Ile397Val)
c.*180A>G (n.*180A>G)
c.1057A>G (p.Ile353Val)
 dbSNP gnomAD v3 gnomAD v4
13g.113149239A>TCA388793561F10c.1189A>T (p.Ile397Phe)
c.*180A>T (n.*180A>T)
c.1057A>T (p.Ile353Phe)
13g.113149240T>ACA388793564F10c.1190T>A (p.Ile397Asn)
c.*181T>A (n.*181T>A)
c.1058T>A (p.Ile353Asn)
13g.113149240T>CCA388793567F10c.1190T>C (p.Ile397Thr)
c.*181T>C (n.*181T>C)
c.1058T>C (p.Ile353Thr)
13g.113149240T>GCA388793570F10c.1190T>G (p.Ile397Ser)
c.*181T>G (n.*181T>G)
c.1058T>G (p.Ile353Ser)
13g.113149241C>ACA485424316F10c.1191C>A (p.Ile397=)
c.*182C>A (n.*182C>A)
c.1059C>A (p.Ile353=)
13g.113149241C>GCA388793572F10c.1191C>G (p.Ile397Met)
c.*182C>G (n.*182C>G)
c.1059C>G (p.Ile353Met)
13g.113149241C>TCA485424320F10c.1191C>T (p.Ile397=)
c.*182C>T (n.*182C>T)
c.1059C>T (p.Ile353=)
13g.113149242A=CA2120140338F10c.1192A= (p.Ile398=)
c.*183A= (n.*183A=)
c.1060A= (p.Ile354=)
13g.113149242A>CCA388793575F10c.1192A>C (p.Ile398Leu)
c.*183A>C (n.*183A>C)
c.1060A>C (p.Ile354Leu)
13g.113149242A>GCA388793576F10c.1192A>G (p.Ile398Val)
c.*183A>G (n.*183A>G)
c.1060A>G (p.Ile354Val)
 dbSNP
13g.113149242A>TCA388793578F10c.1192A>T (p.Ile398Phe)
c.*183A>T (n.*183A>T)
c.1060A>T (p.Ile354Phe)
13g.113149243T>ACA388793584F10c.1193T>A (p.Ile398Asn)
c.*184T>A (n.*184T>A)
c.1061T>A (p.Ile354Asn)
13g.113149243T>CCA388793583F10c.1193T>C (p.Ile398Thr)
c.*184T>C (n.*184T>C)
c.1061T>C (p.Ile354Thr)
 gnomAD v4
13g.113149243T>GCA388793580F10c.1193T>G (p.Ile398Ser)
c.*184T>G (n.*184T>G)
c.1061T>G (p.Ile354Ser)
13g.113149244C>ACA485424336F10c.1194C>A (p.Ile398=)
c.*185C>A (n.*185C>A)
c.1062C>A (p.Ile354=)
13g.113149244C>GCA388793587F10c.1194C>G (p.Ile398Met)
c.*185C>G (n.*185C>G)
c.1062C>G (p.Ile354Met)
13g.113149244C>TCA485424338F10c.1194C>T (p.Ile398=)
c.*185C>T (n.*185C>T)
c.1062C>T (p.Ile354=)
 gnomAD v4
13g.113149245A>CCA388793591F10c.1195A>C (p.Thr399Pro)
c.*186A>C (n.*186A>C)
c.1063A>C (p.Thr355Pro)
13g.113149245A>GCA388793593F10c.1195A>G (p.Thr399Ala)
c.*186A>G (n.*186A>G)
c.1063A>G (p.Thr355Ala)
13g.113149245A>TCA388793595F10c.1195A>T (p.Thr399Ser)
c.*186A>T (n.*186A>T)
c.1063A>T (p.Thr355Ser)
13g.113149246C>ACA388793599F10c.1196C>A (p.Thr399Asn)
c.*187C>A (n.*187C>A)
c.1064C>A (p.Thr355Asn)
13g.113149246C=CA2120140341F10c.1196C= (p.Thr399=)
c.*187C= (n.*187C=)
c.1064C= (p.Thr355=)
13g.113149246C>GCA388793600F10c.1196C>G (p.Thr399Ser)
c.*187C>G (n.*187C>G)
c.1064C>G (p.Thr355Ser)
13g.113149246C>TCA388793601F10c.1196C>T (p.Thr399Ile)
c.*187C>T (n.*187C>T)
c.1064C>T (p.Thr355Ile)
 dbSNP gnomAD v2 gnomAD v4
13g.113149247C>ACA485424353F10c.1197C>A (p.Thr399=)
c.*188C>A (n.*188C>A)
c.1065C>A (p.Thr355=)
13g.113149247C>GCA485424356F10c.1197C>G (p.Thr399=)
c.*188C>G (n.*188C>G)
c.1065C>G (p.Thr355=)
13g.113149247C>TCA485424358F10c.1197C>T (p.Thr399=)
c.*188C>T (n.*188C>T)
c.1065C>T (p.Thr355=)
 COSMIC
13g.113149248C>ACA388793603F10c.1198C>A (p.Gln400Lys)
c.*189C>A (n.*189C>A)
c.1066C>A (p.Gln356Lys)
13g.113149248C>GCA388793605F10c.1198C>G (p.Gln400Glu)
c.*189C>G (n.*189C>G)
c.1066C>G (p.Gln356Glu)
13g.113149248C>TCA388793608F10c.1198C>T (p.Gln400Ter)
c.*189C>T (n.*189C>T)
c.1066C>T (p.Gln356Ter)
13g.113149249A=CA2120140342F10c.1199A= (p.Gln400=)
c.*190A= (n.*190A=)
c.1067A= (p.Gln356=)
13g.113149249A>CCA388793611F10c.1199A>C (p.Gln400Pro)
c.*190A>C (n.*190A>C)
c.1067A>C (p.Gln356Pro)
 dbSNP
13g.113149249A>GCA388793612F10c.1199A>G (p.Gln400Arg)
c.*190A>G (n.*190A>G)
c.1067A>G (p.Gln356Arg)
13g.113149249A>TCA388793615F10c.1199A>T (p.Gln400Leu)
c.*190A>T (n.*190A>T)
c.1067A>T (p.Gln356Leu)
13g.113149249_113149250insCCA2800665322F10c.1199_1200insC (p.Gln400HisfsTer?)
c.*190_*191insC (n.*190_*191insC)
c.1067_1068insC (p.Gln356HisfsTer?)
13g.113149250G>ACA7060701F10c.1200G>A (p.Gln400=)
c.*191G>A (n.*191G>A)
c.1068G>A (p.Gln356=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149250G>CCA388793622F10c.1200G>C (p.Gln400His)
c.*191G>C (n.*191G>C)
c.1068G>C (p.Gln356His)
 gnomAD v4
13g.113149250G=CA2120140344F10c.1200G= (p.Gln400=)
c.*191G= (n.*191G=)
c.1068G= (p.Gln356=)
13g.113149250G>TCA388793618F10c.1200G>T (p.Gln400His)
c.*191G>T (n.*191G>T)
c.1068G>T (p.Gln356His)
13g.113149251A>CCA388793623F10c.1201A>C (p.Asn401His)
c.*192A>C (n.*192A>C)
c.1069A>C (p.Asn357His)
13g.113149251A>GCA388793627F10c.1201A>G (p.Asn401Asp)
c.*192A>G (n.*192A>G)
c.1069A>G (p.Asn357Asp)
13g.113149251A>TCA388793624F10c.1201A>T (p.Asn401Tyr)
c.*192A>T (n.*192A>T)
c.1069A>T (p.Asn357Tyr)
13g.113149252A>CCA388793629F10c.1202A>C (p.Asn401Thr)
c.*193A>C (n.*193A>C)
c.1070A>C (p.Asn357Thr)
13g.113149252A>GCA388793633F10c.1202A>G (p.Asn401Ser)
c.*193A>G (n.*193A>G)
c.1070A>G (p.Asn357Ser)
13g.113149252A>TCA388793631F10c.1202A>T (p.Asn401Ile)
c.*193A>T (n.*193A>T)
c.1070A>T (p.Asn357Ile)
13g.113149252_113149253insACACACCCAACACA2800665324F10c.1202_1203insACACACCCAACA (p.Asn401delinsLysHisThrGlnHis)
c.*193_*194insACACACCCAACA (n.*193_*194insACACACCCAACA)
c.1070_1071insACACACCCAACA (p.Asn357delinsLysHisThrGlnHis)
13g.113149253C>ACA388793635F10c.1203C>A (p.Asn401Lys)
c.*194C>A (n.*194C>A)
c.1071C>A (p.Asn357Lys)
13g.113149253C=CA2120140347F10c.1203C= (p.Asn401=)
c.*194C= (n.*194C=)
c.1071C= (p.Asn357=)
13g.113149253C>GCA388793637F10c.1203C>G (p.Asn401Lys)
c.*194C>G (n.*194C>G)
c.1071C>G (p.Asn357Lys)
13g.113149253C>TCA256478716F10c.1203C>T (p.Asn401=)
c.*194C>T (n.*194C>T)
c.1071C>T (p.Asn357=)
 dbSNP gnomAD v4
13g.113149254A=CA2120140349F10c.1204A= (p.Met402=)
c.*195A= (n.*195A=)
c.1072A= (p.Met358=)
13g.113149254A>CCA388793639F10c.1204A>C (p.Met402Leu)
c.*195A>C (n.*195A>C)
c.1072A>C (p.Met358Leu)
13g.113149254A>GCA7060702F10c.1204A>G (p.Met402Val)
c.*195A>G (n.*195A>G)
c.1072A>G (p.Met358Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149254A>TCA388793642F10c.1204A>T (p.Met402Leu)
c.*195A>T (n.*195A>T)
c.1072A>T (p.Met358Leu)
13g.113149255T>ACA388793645F10c.1205T>A (p.Met402Lys)
c.*196T>A (n.*196T>A)
c.1073T>A (p.Met358Lys)
13g.113149255T>CCA388793647F10c.1205T>C (p.Met402Thr)
c.*196T>C (n.*196T>C)
c.1073T>C (p.Met358Thr)
13g.113149255T>GCA388793650F10c.1205T>G (p.Met402Arg)
c.*196T>G (n.*196T>G)
c.1073T>G (p.Met358Arg)
13g.113149256G>ACA388793654F10c.1206G>A (p.Met402Ile)
c.*197G>A (n.*197G>A)
c.1074G>A (p.Met358Ile)
 COSMIC
13g.113149256G>CCA388793657F10c.1206G>C (p.Met402Ile)
c.*197G>C (n.*197G>C)
c.1074G>C (p.Met358Ile)
13g.113149256G>TCA388793659F10c.1206G>T (p.Met402Ile)
c.*197G>T (n.*197G>T)
c.1074G>T (p.Met358Ile)
13g.113149257T>ACA388793664F10c.1207T>A (p.Phe403Ile)
c.*198T>A (n.*198T>A)
c.1075T>A (p.Phe359Ile)
13g.113149257T>CCA388793667F10c.1207T>C (p.Phe403Leu)
c.*198T>C (n.*198T>C)
c.1075T>C (p.Phe359Leu)
13g.113149257T>GCA388793665F10c.1207T>G (p.Phe403Val)
c.*198T>G (n.*198T>G)
c.1075T>G (p.Phe359Val)
13g.113149258T>ACA388793670F10c.1208T>A (p.Phe403Tyr)
c.*199T>A (n.*199T>A)
c.1076T>A (p.Phe359Tyr)
13g.113149258T>CCA388793673F10c.1208T>C (p.Phe403Ser)
c.*199T>C (n.*199T>C)
c.1076T>C (p.Phe359Ser)
13g.113149258T>GCA388793675F10c.1208T>G (p.Phe403Cys)
c.*199T>G (n.*199T>G)
c.1076T>G (p.Phe359Cys)
13g.113149259C>ACA388793678F10c.1209C>A (p.Phe403Leu)
c.*200C>A (n.*200C>A)
c.1077C>A (p.Phe359Leu)
13g.113149259C=CA2120140351F10c.1209C= (p.Phe403=)
c.*200C= (n.*200C=)
c.1077C= (p.Phe359=)
13g.113149259C>GCA388793679F10c.1209C>G (p.Phe403Leu)
c.*200C>G (n.*200C>G)
c.1077C>G (p.Phe359Leu)
13g.113149259C>TCA7060703F10c.1209C>T (p.Phe403=)
c.*200C>T (n.*200C>T)
c.1077C>T (p.Phe359=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149260T>ACA388793683F10c.1210T>A (p.Cys404Ser)
c.*201T>A (n.*201T>A)
c.1078T>A (p.Cys360Ser)
13g.113149260T>CCA388793686F10c.1210T>C (p.Cys404Arg)
c.*201T>C (n.*201T>C)
c.1078T>C (p.Cys360Arg)
 ClinVar dbSNP gnomAD v4
13g.113149260T>GCA388793689F10c.1210T>G (p.Cys404Gly)
c.*201T>G (n.*201T>G)
c.1078T>G (p.Cys360Gly)
13g.113149260T=CA2120140354F10c.1210T= (p.Cys404=)
c.*201T= (n.*201T=)
c.1078T= (p.Cys360=)
13g.113149261G>ACA388793694F10c.1211G>A (p.Cys404Tyr)
c.*202G>A (n.*202G>A)
c.1079G>A (p.Cys360Tyr)
13g.113149261G>CCA388793697F10c.1211G>C (p.Cys404Ser)
c.*202G>C (n.*202G>C)
c.1079G>C (p.Cys360Ser)
13g.113149261G=CA2120140359F10c.1211G= (p.Cys404=)
c.*202G= (n.*202G=)
c.1079G= (p.Cys360=)
13g.113149261G>TCA388793691F10c.1211G>T (p.Cys404Phe)
c.*202G>T (n.*202G>T)
c.1079G>T (p.Cys360Phe)
 dbSNP gnomAD v2 gnomAD v4
13g.113149262T>ACA388793700F10c.1212T>A (p.Cys404Ter)
c.*203T>A (n.*203T>A)
c.1080T>A (p.Cys360Ter)
13g.113149262T>CCA485424085F10c.1212T>C (p.Cys404=)
c.*203T>C (n.*203T>C)
c.1080T>C (p.Cys360=)
13g.113149262T>GCA388793701F10c.1212T>G (p.Cys404Trp)
c.*203T>G (n.*203T>G)
c.1080T>G (p.Cys360Trp)
13g.113149263G>ACA388793705F10c.1213G>A (p.Ala405Thr)
c.*204G>A (n.*204G>A)
c.1081G>A (p.Ala361Thr)
 gnomAD v4
13g.113149263G>CCA388793707F10c.1213G>C (p.Ala405Pro)
c.*204G>C (n.*204G>C)
c.1081G>C (p.Ala361Pro)
13g.113149263G>TCA388793710F10c.1213G>T (p.Ala405Ser)
c.*204G>T (n.*204G>T)
c.1081G>T (p.Ala361Ser)
13g.113149264C>ACA388793712F10c.1214C>A (p.Ala405Asp)
c.*205C>A (n.*205C>A)
c.1082C>A (p.Ala361Asp)
13g.113149264C>GCA388793715F10c.1214C>G (p.Ala405Gly)
c.*205C>G (n.*205C>G)
c.1082C>G (p.Ala361Gly)
13g.113149264C>TCA388793718F10c.1214C>T (p.Ala405Val)
c.*205C>T (n.*205C>T)
c.1082C>T (p.Ala361Val)
13g.113149265C>ACA485424087F10c.1215C>A (p.Ala405=)
c.*206C>A (n.*206C>A)
c.1083C>A (p.Ala361=)
13g.113149265C=CA2120140363F10c.1215C= (p.Ala405=)
c.*206C= (n.*206C=)
c.1083C= (p.Ala361=)
13g.113149265C>GCA485424086F10c.1215C>G (p.Ala405=)
c.*206C>G (n.*206C>G)
c.1083C>G (p.Ala361=)
 dbSNP
13g.113149265C>TCA7060704F10c.1215C>T (p.Ala405=)
c.*206C>T (n.*206C>T)
c.1083C>T (p.Ala361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149266G>ACA7060705F10c.1216G>A (p.Gly406Ser)
c.*207G>A (n.*207G>A)
c.1084G>A (p.Gly362Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149266G>CCA256478720F10c.1216G>C (p.Gly406Arg)
c.*207G>C (n.*207G>C)
c.1084G>C (p.Gly362Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149266G=CA2120140367F10c.1216G= (p.Gly406=)
c.*207G= (n.*207G=)
c.1084G= (p.Gly362=)
13g.113149266G>TCA388793723F10c.1216G>T (p.Gly406Cys)
c.*207G>T (n.*207G>T)
c.1084G>T (p.Gly362Cys)
 gnomAD v4
13g.113149267G>ACA388793731F10c.1217G>A (p.Gly406Asp)
c.*208G>A (n.*208G>A)
c.1085G>A (p.Gly362Asp)
13g.113149267G>CCA388793726F10c.1217G>C (p.Gly406Ala)
c.*208G>C (n.*208G>C)
c.1085G>C (p.Gly362Ala)
13g.113149267G>TCA388793728F10c.1217G>T (p.Gly406Val)
c.*208G>T (n.*208G>T)
c.1085G>T (p.Gly362Val)
13g.113149268C>ACA485424088F10c.1218C>A (p.Gly406=)
c.*209C>A (n.*209C>A)
c.1086C>A (p.Gly362=)
13g.113149268C>GCA485424089F10c.1218C>G (p.Gly406=)
c.*209C>G (n.*209C>G)
c.1086C>G (p.Gly362=)
13g.113149268C>TCA485424090F10c.1218C>T (p.Gly406=)
c.*209C>T (n.*209C>T)
c.1086C>T (p.Gly362=)
13g.113149269T>ACA388793733F10c.1219T>A (p.Tyr407Asn)
c.*210T>A (n.*210T>A)
c.1087T>A (p.Tyr363Asn)
13g.113149269T>CCA388793734F10c.1219T>C (p.Tyr407His)
c.*210T>C (n.*210T>C)
c.1087T>C (p.Tyr363His)
13g.113149269T>GCA388793738F10c.1219T>G (p.Tyr407Asp)
c.*210T>G (n.*210T>G)
c.1087T>G (p.Tyr363Asp)
13g.113149270A>CCA388793741F10c.1220A>C (p.Tyr407Ser)
c.*211A>C (n.*211A>C)
c.1088A>C (p.Tyr363Ser)
13g.113149270A>GCA388793744F10c.1220A>G (p.Tyr407Cys)
c.*211A>G (n.*211A>G)
c.1088A>G (p.Tyr363Cys)
13g.113149270A>TCA388793745F10c.1220A>T (p.Tyr407Phe)
c.*211A>T (n.*211A>T)
c.1088A>T (p.Tyr363Phe)
13g.113149272_113149274delCA915940388F10c.1222_1224del (p.Asp408del)
c.*213_*215del (n.*213_*215del)
c.1090_1092del (p.Asp364del)
13g.113149271C>ACA388793748F10c.1221C>A (p.Tyr407Ter)
c.*212C>A (n.*212C>A)
c.1089C>A (p.Tyr363Ter)
13g.113149271C=CA2120140370F10c.1221C= (p.Tyr407=)
c.*212C= (n.*212C=)
c.1089C= (p.Tyr363=)
13g.113149271C>GCA388793750F10c.1221C>G (p.Tyr407Ter)
c.*212C>G (n.*212C>G)
c.1089C>G (p.Tyr363Ter)
13g.113149271C>TCA7060706F10c.1221C>T (p.Tyr407=)
c.*212C>T (n.*212C>T)
c.1089C>T (p.Tyr363=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149272G>ACA7060707F10c.1222G>A (p.Asp408Asn)
c.*213G>A (n.*213G>A)
c.1090G>A (p.Asp364Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149272G>CCA388793757F10c.1222G>C (p.Asp408His)
c.*213G>C (n.*213G>C)
c.1090G>C (p.Asp364His)
 gnomAD v4
13g.113149272G=CA2120140375F10c.1222G= (p.Asp408=)
c.*213G= (n.*213G=)
c.1090G= (p.Asp364=)
13g.113149272G>TCA388793760F10c.1222G>T (p.Asp408Tyr)
c.*213G>T (n.*213G>T)
c.1090G>T (p.Asp364Tyr)
13g.113149273A=CA2120140381F10c.1223A= (p.Asp408=)
c.*214A= (n.*214A=)
c.1091A= (p.Asp364=)
13g.113149273A>CCA388793764F10c.1223A>C (p.Asp408Ala)
c.*214A>C (n.*214A>C)
c.1091A>C (p.Asp364Ala)
13g.113149273A>GCA388793765F10c.1223A>G (p.Asp408Gly)
c.*214A>G (n.*214A>G)
c.1091A>G (p.Asp364Gly)
13g.113149273A>TCA388793762F10c.1223A>T (p.Asp408Val)
c.*214A>T (n.*214A>T)
c.1091A>T (p.Asp364Val)
 dbSNP gnomAD v4
13g.113149274C>ACA388793771F10c.1224C>A (p.Asp408Glu)
c.*215C>A (n.*215C>A)
c.1092C>A (p.Asp364Glu)
13g.113149274C=CA2120140384F10c.1224C= (p.Asp408=)
c.*215C= (n.*215C=)
c.1092C= (p.Asp364=)
13g.113149274C>GCA388793768F10c.1224C>G (p.Asp408Glu)
c.*215C>G (n.*215C>G)
c.1092C>G (p.Asp364Glu)
 dbSNP
13g.113149274C>TCA485424091F10c.1224C>T (p.Asp408=)
c.*215C>T (n.*215C>T)
c.1092C>T (p.Asp364=)
13g.113149275A=CA2120140387F10c.1225A= (p.Thr409=)
c.*216A= (n.*216A=)
c.1093A= (p.Thr365=)
13g.113149275A>CCA388793775F10c.1225A>C (p.Thr409Pro)
c.*216A>C (n.*216A>C)
c.1093A>C (p.Thr365Pro)
13g.113149275A>GCA388793776F10c.1225A>G (p.Thr409Ala)
c.*216A>G (n.*216A>G)
c.1093A>G (p.Thr365Ala)
 dbSNP
13g.113149275A>TCA388793779F10c.1225A>T (p.Thr409Ser)
c.*216A>T (n.*216A>T)
c.1093A>T (p.Thr365Ser)
13g.113149276C>ACA388793781F10c.1226C>A (p.Thr409Asn)
c.*217C>A (n.*217C>A)
c.1094C>A (p.Thr365Asn)
13g.113149276C=CA2120140391F10c.1226C= (p.Thr409=)
c.*217C= (n.*217C=)
c.1094C= (p.Thr365=)
13g.113149276C>GCA388793784F10c.1226C>G (p.Thr409Ser)
c.*217C>G (n.*217C>G)
c.1094C>G (p.Thr365Ser)
13g.113149276C>TCA7060708F10c.1226C>T (p.Thr409Ile)
c.*217C>T (n.*217C>T)
c.1094C>T (p.Thr365Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149277C>ACA7060709F10c.1227C>A (p.Thr409=)
c.*218C>A (n.*218C>A)
c.1095C>A (p.Thr365=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149277C=CA2120140396F10c.1227C= (p.Thr409=)
c.*218C= (n.*218C=)
c.1095C= (p.Thr365=)
13g.113149277C>GCA485424093F10c.1227C>G (p.Thr409=)
c.*218C>G (n.*218C>G)
c.1095C>G (p.Thr365=)
13g.113149277C>TCA485424092F10c.1227C>T (p.Thr409=)
c.*218C>T (n.*218C>T)
c.1095C>T (p.Thr365=)
13g.113149278A=CA2120140399F10c.1228A= (p.Lys410=)
c.*219A= (n.*219A=)
c.1096A= (p.Lys366=)
13g.113149278A>CCA388793789F10c.1228A>C (p.Lys410Gln)
c.*219A>C (n.*219A>C)
c.1096A>C (p.Lys366Gln)
 ClinVar
13g.113149278A>GCA388793792F10c.1228A>G (p.Lys410Glu)
c.*219A>G (n.*219A>G)
c.1096A>G (p.Lys366Glu)
13g.113149278A>TCA388793794F10c.1228A>T (p.Lys410Ter)
c.*219A>T (n.*219A>T)
c.1096A>T (p.Lys366Ter)
 dbSNP gnomAD v4
13g.113149279A>CCA388793798F10c.1229A>C (p.Lys410Thr)
c.*220A>C (n.*220A>C)
c.1097A>C (p.Lys366Thr)
13g.113149279A>GCA388793800F10c.1229A>G (p.Lys410Arg)
c.*220A>G (n.*220A>G)
c.1097A>G (p.Lys366Arg)
13g.113149279A>TCA388793801F10c.1229A>T (p.Lys410Met)
c.*220A>T (n.*220A>T)
c.1097A>T (p.Lys366Met)
13g.113149279_113149280insACACACCCAACCA2800665343F10c.1229_1230insACACACCCAAC (p.Gln411HisfsTer27)
c.*220_*221insACACACCCAAC (n.*220_*221insACACACCCAAC)
c.1097_1098insACACACCCAAC (p.Gln367HisfsTer27)
13g.113149280G>ACA485424094F10c.1230G>A (p.Lys410=)
c.*221G>A (n.*221G>A)
c.1098G>A (p.Lys366=)
13g.113149280G>CCA388793805F10c.1230G>C (p.Lys410Asn)
c.*221G>C (n.*221G>C)
c.1098G>C (p.Lys366Asn)
13g.113149280G>TCA388793807F10c.1230G>T (p.Lys410Asn)
c.*221G>T (n.*221G>T)
c.1098G>T (p.Lys366Asn)
13g.113149281_113149284dupCA2575514505F10c.1231_1234dup (p.Glu412AlafsTer?)
c.*222_*225dup (n.*222_*225dup)
c.1099_1102dup (p.Glu368AlafsTer?)
13g.113149281C>ACA388793810F10c.1231C>A (p.Gln411Lys)
c.*222C>A (n.*222C>A)
c.1099C>A (p.Gln367Lys)
13g.113149281C=CA2120140401F10c.1231C= (p.Gln411=)
c.*222C= (n.*222C=)
c.1099C= (p.Gln367=)
13g.113149281C>GCA388793812F10c.1231C>G (p.Gln411Glu)
c.*222C>G (n.*222C>G)
c.1099C>G (p.Gln367Glu)
13g.113149281C>TCA388793816F10c.1231C>T (p.Gln411Ter)
c.*222C>T (n.*222C>T)
c.1099C>T (p.Gln367Ter)
 dbSNP
13g.113149282A=CA2120140404F10c.1232A= (p.Gln411=)
c.*223A= (n.*223A=)
c.1100A= (p.Gln367=)
13g.113149282A>CCA388793819F10c.1232A>C (p.Gln411Pro)
c.*223A>C (n.*223A>C)
c.1100A>C (p.Gln367Pro)
13g.113149282A>GCA388793821F10c.1232A>G (p.Gln411Arg)
c.*223A>G (n.*223A>G)
c.1100A>G (p.Gln367Arg)
 gnomAD v4
13g.113149282A>TCA388793824F10c.1232A>T (p.Gln411Leu)
c.*223A>T (n.*223A>T)
c.1100A>T (p.Gln367Leu)
 dbSNP
13g.113149283G>ACA485424095F10c.1233G>A (p.Gln411=)
c.*224G>A (n.*224G>A)
c.1101G>A (p.Gln367=)
 dbSNP gnomAD v4
13g.113149283G>CCA388793826F10c.1233G>C (p.Gln411His)
c.*224G>C (n.*224G>C)
c.1101G>C (p.Gln367His)
13g.113149283G=CA2120140407F10c.1233G= (p.Gln411=)
c.*224G= (n.*224G=)
c.1101G= (p.Gln367=)
13g.113149283G>TCA388793828F10c.1233G>T (p.Gln411His)
c.*224G>T (n.*224G>T)
c.1101G>T (p.Gln367His)
13g.113149284G>ACA388793830F10c.1234G>A (p.Glu412Lys)
c.*225G>A (n.*225G>A)
c.1102G>A (p.Glu368Lys)
 gnomAD v4
13g.113149284G>CCA388793832F10c.1234G>C (p.Glu412Gln)
c.*225G>C (n.*225G>C)
c.1102G>C (p.Glu368Gln)
13g.113149284G>TCA388793833F10c.1234G>T (p.Glu412Ter)
c.*225G>T (n.*225G>T)
c.1102G>T (p.Glu368Ter)
13g.113149285A>CCA388793842F10c.1235A>C (p.Glu412Ala)
c.*226A>C (n.*226A>C)
c.1103A>C (p.Glu368Ala)
13g.113149285A>GCA388793840F10c.1235A>G (p.Glu412Gly)
c.*226A>G (n.*226A>G)
c.1103A>G (p.Glu368Gly)
13g.113149285A>TCA388793837F10c.1235A>T (p.Glu412Val)
c.*226A>T (n.*226A>T)
c.1103A>T (p.Glu368Val)
13g.113149286G>ACA7060710F10c.1236G>A (p.Glu412=)
c.*227G>A (n.*227G>A)
c.1104G>A (p.Glu368=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149286G>CCA388793847F10c.1236G>C (p.Glu412Asp)
c.*227G>C (n.*227G>C)
c.1104G>C (p.Glu368Asp)
13g.113149286G=CA2120140410F10c.1236G= (p.Glu412=)
c.*227G= (n.*227G=)
c.1104G= (p.Glu368=)
13g.113149286G>TCA388793850F10c.1236G>T (p.Glu412Asp)
c.*227G>T (n.*227G>T)
c.1104G>T (p.Glu368Asp)
13g.113149287G>ACA388793853F10c.1237G>A (p.Asp413Asn)
c.*228G>A (n.*228G>A)
c.1105G>A (p.Asp369Asn)
 ClinVar dbSNP gnomAD v4
13g.113149287G>CCA388793855F10c.1237G>C (p.Asp413His)
c.*228G>C (n.*228G>C)
c.1105G>C (p.Asp369His)
13g.113149287G=CA2120140411F10c.1237G= (p.Asp413=)
c.*228G= (n.*228G=)
c.1105G= (p.Asp369=)
13g.113149287G>TCA388793858F10c.1237G>T (p.Asp413Tyr)
c.*228G>T (n.*228G>T)
c.1105G>T (p.Asp369Tyr)
13g.113149288A>CCA388793861F10c.1238A>C (p.Asp413Ala)
c.*229A>C (n.*229A>C)
c.1106A>C (p.Asp369Ala)
13g.113149288A>GCA388793862F10c.1238A>G (p.Asp413Gly)
c.*229A>G (n.*229A>G)
c.1106A>G (p.Asp369Gly)
13g.113149288A>TCA388793865F10c.1238A>T (p.Asp413Val)
c.*229A>T (n.*229A>T)
c.1106A>T (p.Asp369Val)
13g.113149289T>ACA388793868F10c.1239T>A (p.Asp413Glu)
c.*230T>A (n.*230T>A)
c.1107T>A (p.Asp369Glu)
13g.113149289T>CCA7060711F10c.1239T>C (p.Asp413=)
c.*230T>C (n.*230T>C)
c.1107T>C (p.Asp369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149289T>GCA388793870F10c.1239T>G (p.Asp413Glu)
c.*230T>G (n.*230T>G)
c.1107T>G (p.Asp369Glu)
13g.113149289T=CA2120140415F10c.1239T= (p.Asp413=)
c.*230T= (n.*230T=)
c.1107T= (p.Asp369=)
13g.113149290G>ACA388793877F10c.1240G>A (p.Ala414Thr)
c.*231G>A (n.*231G>A)
c.1108G>A (p.Ala370Thr)
13g.113149290G>CCA388793880F10c.1240G>C (p.Ala414Pro)
c.*231G>C (n.*231G>C)
c.1108G>C (p.Ala370Pro)
13g.113149290G>TCA388793875F10c.1240G>T (p.Ala414Ser)
c.*231G>T (n.*231G>T)
c.1108G>T (p.Ala370Ser)
13g.113149291C>ACA388793883F10c.1241C>A (p.Ala414Asp)
c.*232C>A (n.*232C>A)
c.1109C>A (p.Ala370Asp)
 gnomAD v4
13g.113149291C=CA2120140418F10c.1241C= (p.Ala414=)
c.*232C= (n.*232C=)
c.1109C= (p.Ala370=)
13g.113149291C>GCA256478723F10c.1241C>G (p.Ala414Gly)
c.*232C>G (n.*232C>G)
c.1109C>G (p.Ala370Gly)
 dbSNP
13g.113149291C>TCA388793887F10c.1241C>T (p.Ala414Val)
c.*232C>T (n.*232C>T)
c.1109C>T (p.Ala370Val)
13g.113149292C>ACA485424098F10c.1242C>A (p.Ala414=)
c.*233C>A (n.*233C>A)
c.1110C>A (p.Ala370=)
 gnomAD v4
13g.113149292C>GCA485424102F10c.1242C>G (p.Ala414=)
c.*233C>G (n.*233C>G)
c.1110C>G (p.Ala370=)
13g.113149292C>TCA485424099F10c.1242C>T (p.Ala414=)
c.*233C>T (n.*233C>T)
c.1110C>T (p.Ala370=)
13g.113149293T>ACA388793890F10c.1243T>A (p.Cys415Ser)
c.*234T>A (n.*234T>A)
c.1111T>A (p.Cys371Ser)
13g.113149293T>CCA388793892F10c.1243T>C (p.Cys415Arg)
c.*234T>C (n.*234T>C)
c.1111T>C (p.Cys371Arg)
13g.113149293T>GCA388793894F10c.1243T>G (p.Cys415Gly)
c.*234T>G (n.*234T>G)
c.1111T>G (p.Cys371Gly)
13g.113149294G>ACA388793898F10c.1244G>A (p.Cys415Tyr)
c.*235G>A (n.*235G>A)
c.1112G>A (p.Cys371Tyr)
13g.113149294G>CCA388793902F10c.1244G>C (p.Cys415Ser)
c.*235G>C (n.*235G>C)
c.1112G>C (p.Cys371Ser)
13g.113149294G>TCA388793900F10c.1244G>T (p.Cys415Phe)
c.*235G>T (n.*235G>T)
c.1112G>T (p.Cys371Phe)
13g.113149295C>ACA388793905F10c.1245C>A (p.Cys415Ter)
c.*236C>A (n.*236C>A)
c.1113C>A (p.Cys371Ter)
13g.113149295C=CA2120140425F10c.1245C= (p.Cys415=)
c.*236C= (n.*236C=)
c.1113C= (p.Cys371=)
13g.113149295C>GCA388793908F10c.1245C>G (p.Cys415Trp)
c.*236C>G (n.*236C>G)
c.1113C>G (p.Cys371Trp)
13g.113149295C>TCA485424104F10c.1245C>T (p.Cys415=)
c.*236C>T (n.*236C>T)
c.1113C>T (p.Cys371=)
 dbSNP gnomAD v4
13g.113149296C>ACA388793910F10c.1246C>A (p.Gln416Lys)
c.*237C>A (n.*237C>A)
c.1114C>A (p.Gln372Lys)
13g.113149296C>GCA388793913F10c.1246C>G (p.Gln416Glu)
c.*237C>G (n.*237C>G)
c.1114C>G (p.Gln372Glu)
 gnomAD v4
13g.113149296C>TCA388793915F10c.1246C>T (p.Gln416Ter)
c.*237C>T (n.*237C>T)
c.1114C>T (p.Gln372Ter)
 COSMIC
13g.113149297delCA2623809970F10c.1247del (p.Gln416ArgfsTer18)
c.*238del (n.*238del)
c.1115del (p.Gln372ArgfsTer18)
 gnomAD v4
13g.113149297A=CA2120140428F10c.1247A= (p.Gln416=)
c.*238A= (n.*238A=)
c.1115A= (p.Gln372=)
13g.113149297A>CCA388793919F10c.1247A>C (p.Gln416Pro)
c.*238A>C (n.*238A>C)
c.1115A>C (p.Gln372Pro)
13g.113149297A>GCA388793921F10c.1247A>G (p.Gln416Arg)
c.*238A>G (n.*238A>G)
c.1115A>G (p.Gln372Arg)
13g.113149297A>TCA256478725F10c.1247A>T (p.Gln416Leu)
c.*238A>T (n.*238A>T)
c.1115A>T (p.Gln372Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149297_113149298delinsAGCA2120140429F10c.1247_1248delinsAG (p.Gln416=)
c.*238_*239delinsAG (n.*238_*239delinsAG)
c.1115_1116delinsAG (p.Gln372=)
13g.113149298G>ACA485424107F10c.1248G>A (p.Gln416=)
c.*239G>A (n.*239G>A)
c.1116G>A (p.Gln372=)
 dbSNP
13g.113149298G>CCA388793927F10c.1248G>C (p.Gln416His)
c.*239G>C (n.*239G>C)
c.1116G>C (p.Gln372His)
 gnomAD v4
13g.113149298G=CA2120140434F10c.1248G= (p.Gln416=)
c.*239G= (n.*239G=)
c.1116G= (p.Gln372=)
13g.113149298G>TCA388793924F10c.1248G>T (p.Gln416His)
c.*239G>T (n.*239G>T)
c.1116G>T (p.Gln372His)
13g.113149302delCA2120140432F10c.1252del (p.Asp418ThrfsTer16)
c.*243del (n.*243del)
c.1120del (p.Asp374ThrfsTer16)
 dbSNP
13g.113149299G>ACA388793933F10c.1249G>A (p.Gly417Arg)
c.*240G>A (n.*240G>A)
c.1117G>A (p.Gly373Arg)
13g.113149299G>CCA388793930F10c.1249G>C (p.Gly417Arg)
c.*240G>C (n.*240G>C)
c.1117G>C (p.Gly373Arg)
13g.113149299G>TCA388793936F10c.1249G>T (p.Gly417Trp)
c.*240G>T (n.*240G>T)
c.1117G>T (p.Gly373Trp)
13g.113149300G>ACA388793938F10c.1250G>A (p.Gly417Glu)
c.*241G>A (n.*241G>A)
c.1118G>A (p.Gly373Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.113149300G>CCA388793940F10c.1250G>C (p.Gly417Ala)
c.*241G>C (n.*241G>C)
c.1118G>C (p.Gly373Ala)
13g.113149300G=CA2120140438F10c.1250G= (p.Gly417=)
c.*241G= (n.*241G=)
c.1118G= (p.Gly373=)
13g.113149300G>TCA388793941F10c.1250G>T (p.Gly417Val)
c.*241G>T (n.*241G>T)
c.1118G>T (p.Gly373Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.113149301G>ACA7060712F10c.1251G>A (p.Gly417=)
c.*242G>A (n.*242G>A)
c.1119G>A (p.Gly373=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149301G>CCA485424110F10c.1251G>C (p.Gly417=)
c.*242G>C (n.*242G>C)
c.1119G>C (p.Gly373=)
 dbSNP
13g.113149301G=CA2120140442F10c.1251G= (p.Gly417=)
c.*242G= (n.*242G=)
c.1119G= (p.Gly373=)
13g.113149301G>TCA485424109F10c.1251G>T (p.Gly417=)
c.*242G>T (n.*242G>T)
c.1119G>T (p.Gly373=)
13g.113149302G>ACA388793943F10c.1252G>A (p.Asp418Asn)
c.*243G>A (n.*243G>A)
c.1120G>A (p.Asp374Asn)
 COSMIC
13g.113149302G>CCA388793945F10c.1252G>C (p.Asp418His)
c.*243G>C (n.*243G>C)
c.1120G>C (p.Asp374His)
 ClinVar dbSNP
13g.113149302G>TCA388793946F10c.1252G>T (p.Asp418Tyr)
c.*243G>T (n.*243G>T)
c.1120G>T (p.Asp374Tyr)
13g.113149303A>CCA388793950F10c.1253A>C (p.Asp418Ala)
c.*244A>C (n.*244A>C)
c.1121A>C (p.Asp374Ala)
13g.113149303A>GCA388793952F10c.1253A>G (p.Asp418Gly)
c.*244A>G (n.*244A>G)
c.1121A>G (p.Asp374Gly)
13g.113149303A>TCA388793954F10c.1253A>T (p.Asp418Val)
c.*244A>T (n.*244A>T)
c.1121A>T (p.Asp374Val)
13g.113149304C>ACA388793957F10c.1254C>A (p.Asp418Glu)
c.*245C>A (n.*245C>A)
c.1122C>A (p.Asp374Glu)
13g.113149304C>GCA388793960F10c.1254C>G (p.Asp418Glu)
c.*245C>G (n.*245C>G)
c.1122C>G (p.Asp374Glu)
 gnomAD v4
13g.113149304C>TCA485424112F10c.1254C>T (p.Asp418=)
c.*245C>T (n.*245C>T)
c.1122C>T (p.Asp374=)
 gnomAD v4
13g.113149305A>CCA388793968F10c.1255A>C (p.Ser419Arg)
c.*246A>C (n.*246A>C)
c.1123A>C (p.Ser375Arg)
13g.113149305A>GCA388793965F10c.1255A>G (p.Ser419Gly)
c.*246A>G (n.*246A>G)
c.1123A>G (p.Ser375Gly)
13g.113149305A>TCA388793964F10c.1255A>T (p.Ser419Cys)
c.*246A>T (n.*246A>T)
c.1123A>T (p.Ser375Cys)
13g.113149306G>ACA388793971F10c.1256G>A (p.Ser419Asn)
c.*247G>A (n.*247G>A)
c.1124G>A (p.Ser375Asn)
13g.113149306G>CCA388793973F10c.1256G>C (p.Ser419Thr)
c.*247G>C (n.*247G>C)
c.1124G>C (p.Ser375Thr)
13g.113149306G>TCA388793975F10c.1256G>T (p.Ser419Ile)
c.*247G>T (n.*247G>T)
c.1124G>T (p.Ser375Ile)
13g.113149307C>ACA388793978F10c.1257C>A (p.Ser419Arg)
c.*248C>A (n.*248C>A)
c.1125C>A (p.Ser375Arg)
13g.113149307C=CA2120140445F10c.1257C= (p.Ser419=)
c.*248C= (n.*248C=)
c.1125C= (p.Ser375=)
13g.113149307C>GCA388793981F10c.1257C>G (p.Ser419Arg)
c.*248C>G (n.*248C>G)
c.1125C>G (p.Ser375Arg)
13g.113149307C>TCA7060713F10c.1257C>T (p.Ser419=)
c.*248C>T (n.*248C>T)
c.1125C>T (p.Ser375=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149308G>ACA7060714F10c.1258G>A (p.Gly420Arg)
c.*249G>A (n.*249G>A)
c.1126G>A (p.Gly376Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149308G>CCA388793988F10c.1258G>C (p.Gly420Arg)
c.*249G>C (n.*249G>C)
c.1126G>C (p.Gly376Arg)
13g.113149308G=CA2120140447F10c.1258G= (p.Gly420=)
c.*249G= (n.*249G=)
c.1126G= (p.Gly376=)
13g.113149308G>TCA388793991F10c.1258G>T (p.Gly420Trp)
c.*249G>T (n.*249G>T)
c.1126G>T (p.Gly376Trp)
13g.113149312delCA2575514506F10c.1262del (p.Gly421AlafsTer13)
c.*253del (n.*253del)
c.1130del (p.Gly377AlafsTer13)
13g.113149309G>ACA388793994F10c.1259G>A (p.Gly420Glu)
c.*250G>A (n.*250G>A)
c.1127G>A (p.Gly376Glu)
13g.113149309G>CCA388793996F10c.1259G>C (p.Gly420Ala)
c.*250G>C (n.*250G>C)
c.1127G>C (p.Gly376Ala)
13g.113149309G>TCA388793998F10c.1259G>T (p.Gly420Val)
c.*250G>T (n.*250G>T)
c.1127G>T (p.Gly376Val)
13g.113149310G>ACA485424116F10c.1260G>A (p.Gly420=)
c.*251G>A (n.*251G>A)
c.1128G>A (p.Gly376=)
 gnomAD v4
13g.113149310G>CCA485424118F10c.1260G>C (p.Gly420=)
c.*251G>C (n.*251G>C)
c.1128G>C (p.Gly376=)
13g.113149310G>TCA485424120F10c.1260G>T (p.Gly420=)
c.*251G>T (n.*251G>T)
c.1128G>T (p.Gly376=)
13g.113149311G>ACA388794005F10c.1261G>A (p.Gly421Ser)
c.*252G>A (n.*252G>A)
c.1129G>A (p.Gly377Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149311G>CCA388794003F10c.1261G>C (p.Gly421Arg)
c.*252G>C (n.*252G>C)
c.1129G>C (p.Gly377Arg)
13g.113149311G=CA2120140451F10c.1261G= (p.Gly421=)
c.*252G= (n.*252G=)
c.1129G= (p.Gly377=)
13g.113149311G>TCA388794001F10c.1261G>T (p.Gly421Cys)
c.*252G>T (n.*252G>T)
c.1129G>T (p.Gly377Cys)
13g.113149312G>ACA7060715F10c.1262G>A (p.Gly421Asp)
c.*253G>A (n.*253G>A)
c.1130G>A (p.Gly377Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149312G>CCA388794008F10c.1262G>C (p.Gly421Ala)
c.*253G>C (n.*253G>C)
c.1130G>C (p.Gly377Ala)
13g.113149312G=CA2120140455F10c.1262G= (p.Gly421=)
c.*253G= (n.*253G=)
c.1130G= (p.Gly377=)
13g.113149312G>TCA388794010F10c.1262G>T (p.Gly421Val)
c.*253G>T (n.*253G>T)
c.1130G>T (p.Gly377Val)
 dbSNP gnomAD v2 gnomAD v4
13g.113149313C>ACA485424123F10c.1263C>A (p.Gly421=)
c.*254C>A (n.*254C>A)
c.1131C>A (p.Gly377=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149313C=CA2120140461F10c.1263C= (p.Gly421=)
c.*254C= (n.*254C=)
c.1131C= (p.Gly377=)
13g.113149313C>GCA485424125F10c.1263C>G (p.Gly421=)
c.*254C>G (n.*254C>G)
c.1131C>G (p.Gly377=)
13g.113149313C>TCA256478729F10c.1263C>T (p.Gly421=)
c.*254C>T (n.*254C>T)
c.1131C>T (p.Gly377=)
 dbSNP gnomAD v4
13g.113149314C>ACA388794014F10c.1264C>A (p.Pro422Thr)
c.*255C>A (n.*255C>A)
c.1132C>A (p.Pro378Thr)
13g.113149314C=CA2120140464F10c.1264C= (p.Pro422=)
c.*255C= (n.*255C=)
c.1132C= (p.Pro378=)
13g.113149314C>GCA388794017F10c.1264C>G (p.Pro422Ala)
c.*255C>G (n.*255C>G)
c.1132C>G (p.Pro378Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149314C>TCA7060716F10c.1264C>T (p.Pro422Ser)
c.*255C>T (n.*255C>T)
c.1132C>T (p.Pro378Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149315C>ACA388794019F10c.1265C>A (p.Pro422Gln)
c.*256C>A (n.*256C>A)
c.1133C>A (p.Pro378Gln)
13g.113149315C=CA2120140467F10c.1265C= (p.Pro422=)
c.*256C= (n.*256C=)
c.1133C= (p.Pro378=)
13g.113149315C>GCA388794020F10c.1265C>G (p.Pro422Arg)
c.*256C>G (n.*256C>G)
c.1133C>G (p.Pro378Arg)
13g.113149315C>TCA388794022F10c.1265C>T (p.Pro422Leu)
c.*256C>T (n.*256C>T)
c.1133C>T (p.Pro378Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
13g.113149316G>ACA7060717F10c.1266G>A (p.Pro422=)
c.*257G>A (n.*257G>A)
c.1134G>A (p.Pro378=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149316G>CCA485424128F10c.1266G>C (p.Pro422=)
c.*257G>C (n.*257G>C)
c.1134G>C (p.Pro378=)
 gnomAD v4
13g.113149316G=CA2120140472F10c.1266G= (p.Pro422=)
c.*257G= (n.*257G=)
c.1134G= (p.Pro378=)
13g.113149316G>TCA7060718F10c.1266G>T (p.Pro422=)
c.*257G>T (n.*257G>T)
c.1134G>T (p.Pro378=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149317C>ACA388794029F10c.1267C>A (p.His423Asn)
c.*258C>A (n.*258C>A)
c.1135C>A (p.His379Asn)
13g.113149317C>GCA388794027F10c.1267C>G (p.His423Asp)
c.*258C>G (n.*258C>G)
c.1135C>G (p.His379Asp)
13g.113149317C>TCA388794025F10c.1267C>T (p.His423Tyr)
c.*258C>T (n.*258C>T)
c.1135C>T (p.His379Tyr)
 gnomAD v4
13g.113149318A>CCA388794030F10c.1268A>C (p.His423Pro)
c.*259A>C (n.*259A>C)
c.1136A>C (p.His379Pro)
13g.113149318A>GCA388794032F10c.1268A>G (p.His423Arg)
c.*259A>G (n.*259A>G)
c.1136A>G (p.His379Arg)
13g.113149318A>TCA388794033F10c.1268A>T (p.His423Leu)
c.*259A>T (n.*259A>T)
c.1136A>T (p.His379Leu)
13g.113149319C>ACA256478732F10c.1269C>A (p.His423Gln)
c.*260C>A (n.*260C>A)
c.1137C>A (p.His379Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149319C=CA2120140479F10c.1269C= (p.His423=)
c.*260C= (n.*260C=)
c.1137C= (p.His379=)
13g.113149319C>GCA388794036F10c.1269C>G (p.His423Gln)
c.*260C>G (n.*260C>G)
c.1137C>G (p.His379Gln)
13g.113149319C>TCA7060719F10c.1269C>T (p.His423=)
c.*260C>T (n.*260C>T)
c.1137C>T (p.His379=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149320G>ACA7060720F10c.1270G>A (p.Val424Ile)
c.*261G>A (n.*261G>A)
c.1138G>A (p.Val380Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149320G>CCA388794038F10c.1270G>C (p.Val424Leu)
c.*261G>C (n.*261G>C)
c.1138G>C (p.Val380Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.113149320G=CA2120140484F10c.1270G= (p.Val424=)
c.*261G= (n.*261G=)
c.1138G= (p.Val380=)
13g.113149320G>TCA388794039F10c.1270G>T (p.Val424Phe)
c.*261G>T (n.*261G>T)
c.1138G>T (p.Val380Phe)
 dbSNP gnomAD v2 gnomAD v4
13g.113149321T>ACA388794042F10c.1271T>A (p.Val424Asp)
c.*262T>A (n.*262T>A)
c.1139T>A (p.Val380Asp)
13g.113149321T>CCA388794044F10c.1271T>C (p.Val424Ala)
c.*262T>C (n.*262T>C)
c.1139T>C (p.Val380Ala)
13g.113149321T>GCA388794045F10c.1271T>G (p.Val424Gly)
c.*262T>G (n.*262T>G)
c.1139T>G (p.Val380Gly)
13g.113149322C>ACA485424130F10c.1272C>A (p.Val424=)
c.*263C>A (n.*263C>A)
c.1140C>A (p.Val380=)
 gnomAD v4
13g.113149322C>GCA485424132F10c.1272C>G (p.Val424=)
c.*263C>G (n.*263C>G)
c.1140C>G (p.Val380=)
13g.113149322C>TCA485424133F10c.1272C>T (p.Val424=)
c.*263C>T (n.*263C>T)
c.1140C>T (p.Val380=)
13g.113149323A>CCA388794051F10c.1273A>C (p.Thr425Pro)
c.*264A>C (n.*264A>C)
c.1141A>C (p.Thr381Pro)
13g.113149323A>GCA388794050F10c.1273A>G (p.Thr425Ala)
c.*264A>G (n.*264A>G)
c.1141A>G (p.Thr381Ala)
13g.113149323A>TCA388794048F10c.1273A>T (p.Thr425Ser)
c.*264A>T (n.*264A>T)
c.1141A>T (p.Thr381Ser)
13g.113149324C>ACA388794054F10c.1274C>A (p.Thr425Asn)
c.*265C>A (n.*265C>A)
c.1142C>A (p.Thr381Asn)
 gnomAD v4
13g.113149324C>GCA388794058F10c.1274C>G (p.Thr425Ser)
c.*265C>G (n.*265C>G)
c.1142C>G (p.Thr381Ser)
13g.113149324C>TCA388794056F10c.1274C>T (p.Thr425Ile)
c.*265C>T (n.*265C>T)
c.1142C>T (p.Thr381Ile)

Number of alleles fetched