Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113149181C>ACA485424160F10c.1131C>A (p.Leu377=)
c.*122C>A (n.*122C>A)
c.999C>A (p.Leu333=)
13g.113149181C=CA2120140287F10c.1131C= (p.Leu377=)
c.*122C= (n.*122C=)
c.999C= (p.Leu333=)
13g.113149181C>GCA485424161F10c.1131C>G (p.Leu377=)
c.*122C>G (n.*122C>G)
c.999C>G (p.Leu333=)
 gnomAD v4
13g.113149181C>TCA7060692F10c.1131C>T (p.Leu377=)
c.*122C>T (n.*122C>T)
c.999C>T (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149182A=CA2120140291F10c.1132A= (p.Lys378=)
c.*123A= (n.*123A=)
c.1000A= (p.Lys334=)
13g.113149182A>CCA388793239F10c.1132A>C (p.Lys378Gln)
c.*123A>C (n.*123A>C)
c.1000A>C (p.Lys334Gln)
13g.113149182A>GCA388793241F10c.1132A>G (p.Lys378Glu)
c.*123A>G (n.*123A>G)
c.1000A>G (p.Lys334Glu)
13g.113149182A>TCA256478704F10c.1132A>T (p.Lys378Ter)
c.*123A>T (n.*123A>T)
c.1000A>T (p.Lys334Ter)
 dbSNP
13g.113149183A>CCA388793246F10c.1133A>C (p.Lys378Thr)
c.*124A>C (n.*124A>C)
c.1001A>C (p.Lys334Thr)
13g.113149183A>GCA388793252F10c.1133A>G (p.Lys378Arg)
c.*124A>G (n.*124A>G)
c.1001A>G (p.Lys334Arg)
 gnomAD v4
13g.113149183A>TCA388793249F10c.1133A>T (p.Lys378Met)
c.*124A>T (n.*124A>T)
c.1001A>T (p.Lys334Met)
13g.113149184G>ACA485424165F10c.1134G>A (p.Lys378=)
c.*125G>A (n.*125G>A)
c.1002G>A (p.Lys334=)
13g.113149184G>CCA388793254F10c.1134G>C (p.Lys378Asn)
c.*125G>C (n.*125G>C)
c.1002G>C (p.Lys334Asn)
 gnomAD v4
13g.113149184G>TCA388793258F10c.1134G>T (p.Lys378Asn)
c.*125G>T (n.*125G>T)
c.1002G>T (p.Lys334Asn)
13g.113149185A>CCA388793260F10c.1135A>C (p.Met379Leu)
c.*126A>C (n.*126A>C)
c.1003A>C (p.Met335Leu)
13g.113149185A>GCA388793261F10c.1135A>G (p.Met379Val)
c.*126A>G (n.*126A>G)
c.1003A>G (p.Met335Val)
 gnomAD v4
13g.113149185A>TCA388793264F10c.1135A>T (p.Met379Leu)
c.*126A>T (n.*126A>T)
c.1003A>T (p.Met335Leu)
13g.113149186T>ACA388793267F10c.1136T>A (p.Met379Lys)
c.*127T>A (n.*127T>A)
c.1004T>A (p.Met335Lys)
13g.113149186T>CCA7060693F10c.1136T>C (p.Met379Thr)
c.*127T>C (n.*127T>C)
c.1004T>C (p.Met335Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149186T>GCA388793271F10c.1136T>G (p.Met379Arg)
c.*127T>G (n.*127T>G)
c.1004T>G (p.Met335Arg)
13g.113149186T=CA2120140294F10c.1136T= (p.Met379=)
c.*127T= (n.*127T=)
c.1004T= (p.Met335=)
13g.113149187G>ACA388793277F10c.1137G>A (p.Met379Ile)
c.*128G>A (n.*128G>A)
c.1005G>A (p.Met335Ile)
13g.113149187G>CCA388793279F10c.1137G>C (p.Met379Ile)
c.*128G>C (n.*128G>C)
c.1005G>C (p.Met335Ile)
13g.113149187G>TCA388793282F10c.1137G>T (p.Met379Ile)
c.*128G>T (n.*128G>T)
c.1005G>T (p.Met335Ile)
13g.113149188C>ACA388793285F10c.1138C>A (p.Leu380Met)
c.*129C>A (n.*129C>A)
c.1006C>A (p.Leu336Met)
13g.113149188C>GCA388793287F10c.1138C>G (p.Leu380Val)
c.*129C>G (n.*129C>G)
c.1006C>G (p.Leu336Val)
13g.113149188C>TCA485424169F10c.1138C>T (p.Leu380=)
c.*129C>T (n.*129C>T)
c.1006C>T (p.Leu336=)
 gnomAD v4
13g.113149189T>ACA388793288F10c.1139T>A (p.Leu380Gln)
c.*130T>A (n.*130T>A)
c.1007T>A (p.Leu336Gln)
13g.113149189T>CCA388793294F10c.1139T>C (p.Leu380Pro)
c.*130T>C (n.*130T>C)
c.1007T>C (p.Leu336Pro)
13g.113149189T>GCA388793291F10c.1139T>G (p.Leu380Arg)
c.*130T>G (n.*130T>G)
c.1007T>G (p.Leu336Arg)
13g.113149190G>ACA485424174F10c.1140G>A (p.Leu380=)
c.*131G>A (n.*131G>A)
c.1008G>A (p.Leu336=)
13g.113149190G>CCA485424173F10c.1140G>C (p.Leu380=)
c.*131G>C (n.*131G>C)
c.1008G>C (p.Leu336=)
13g.113149190G>TCA485424172F10c.1140G>T (p.Leu380=)
c.*131G>T (n.*131G>T)
c.1008G>T (p.Leu336=)
13g.113149191delCA2695219010F10c.1141del (p.Glu381ArgfsTer?)
c.*132del (n.*132del)
c.1009del (p.Glu337ArgfsTer?)
13g.113149191G>ACA388793298F10c.1141G>A (p.Glu381Lys)
c.*132G>A (n.*132G>A)
c.1009G>A (p.Glu337Lys)
13g.113149191G>CCA388793300F10c.1141G>C (p.Glu381Gln)
c.*132G>C (n.*132G>C)
c.1009G>C (p.Glu337Gln)
 gnomAD v4
13g.113149191G>TCA388793301F10c.1141G>T (p.Glu381Ter)
c.*132G>T (n.*132G>T)
c.1009G>T (p.Glu337Ter)
13g.113149192A=CA2120140296F10c.1142A= (p.Glu381=)
c.*133A= (n.*133A=)
c.1010A= (p.Glu337=)
13g.113149192A>CCA388793305F10c.1142A>C (p.Glu381Ala)
c.*133A>C (n.*133A>C)
c.1010A>C (p.Glu337Ala)
13g.113149192A>GCA388793307F10c.1142A>G (p.Glu381Gly)
c.*133A>G (n.*133A>G)
c.1010A>G (p.Glu337Gly)
13g.113149192A>TCA388793310F10c.1142A>T (p.Glu381Val)
c.*133A>T (n.*133A>T)
c.1010A>T (p.Glu337Val)
 dbSNP gnomAD v4
13g.113149193G>ACA485424176F10c.1143G>A (p.Glu381=)
c.*134G>A (n.*134G>A)
c.1011G>A (p.Glu337=)
13g.113149193G>CCA388793313F10c.1143G>C (p.Glu381Asp)
c.*134G>C (n.*134G>C)
c.1011G>C (p.Glu337Asp)
13g.113149193G>TCA388793316F10c.1143G>T (p.Glu381Asp)
c.*134G>T (n.*134G>T)
c.1011G>T (p.Glu337Asp)
13g.113149194G>ACA388793319F10c.1144G>A (p.Val382Met)
c.*135G>A (n.*135G>A)
c.1012G>A (p.Val338Met)
13g.113149194G>CCA388793321F10c.1144G>C (p.Val382Leu)
c.*135G>C (n.*135G>C)
c.1012G>C (p.Val338Leu)
13g.113149194G>TCA388793323F10c.1144G>T (p.Val382Leu)
c.*135G>T (n.*135G>T)
c.1012G>T (p.Val338Leu)
 gnomAD v4
13g.113149195T>ACA388793332F10c.1145T>A (p.Val382Glu)
c.*136T>A (n.*136T>A)
c.1013T>A (p.Val338Glu)
13g.113149195T>CCA388793329F10c.1145T>C (p.Val382Ala)
c.*136T>C (n.*136T>C)
c.1013T>C (p.Val338Ala)
 dbSNP gnomAD v4
13g.113149195T>GCA388793326F10c.1145T>G (p.Val382Gly)
c.*136T>G (n.*136T>G)
c.1013T>G (p.Val338Gly)
 dbSNP
13g.113149195T=CA2120140298F10c.1145T= (p.Val382=)
c.*136T= (n.*136T=)
c.1013T= (p.Val338=)
13g.113149196G>ACA485424181F10c.1146G>A (p.Val382=)
c.*137G>A (n.*137G>A)
c.1014G>A (p.Val338=)
13g.113149196G>CCA485424182F10c.1146G>C (p.Val382=)
c.*137G>C (n.*137G>C)
c.1014G>C (p.Val338=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149196G=CA2120140300F10c.1146G= (p.Val382=)
c.*137G= (n.*137G=)
c.1014G= (p.Val338=)
13g.113149196G>TCA485424183F10c.1146G>T (p.Val382=)
c.*137G>T (n.*137G>T)
c.1014G>T (p.Val338=)
13g.113149197C>ACA388793340F10c.1147C>A (p.Pro383Thr)
c.*138C>A (n.*138C>A)
c.1015C>A (p.Pro339Thr)
13g.113149197C=CA2120140302F10c.1147C= (p.Pro383=)
c.*138C= (n.*138C=)
c.1015C= (p.Pro339=)
13g.113149197C>GCA388793335F10c.1147C>G (p.Pro383Ala)
c.*138C>G (n.*138C>G)
c.1015C>G (p.Pro339Ala)
13g.113149197C>TCA256478706F10c.1147C>T (p.Pro383Ser)
c.*138C>T (n.*138C>T)
c.1015C>T (p.Pro339Ser)
 ClinVar dbSNP gnomAD v4
13g.113149198C>ACA388793344F10c.1148C>A (p.Pro383His)
c.*139C>A (n.*139C>A)
c.1016C>A (p.Pro339His)
13g.113149198C>GCA388793347F10c.1148C>G (p.Pro383Arg)
c.*139C>G (n.*139C>G)
c.1016C>G (p.Pro339Arg)
13g.113149198C>TCA388793346F10c.1148C>T (p.Pro383Leu)
c.*139C>T (n.*139C>T)
c.1016C>T (p.Pro339Leu)
13g.113149199C>ACA485424185F10c.1149C>A (p.Pro383=)
c.*140C>A (n.*140C>A)
c.1017C>A (p.Pro339=)
13g.113149199C>GCA485424186F10c.1149C>G (p.Pro383=)
c.*140C>G (n.*140C>G)
c.1017C>G (p.Pro339=)
13g.113149199C>TCA485424187F10c.1149C>T (p.Pro383=)
c.*140C>T (n.*140C>T)
c.1017C>T (p.Pro339=)
13g.113149200T>ACA388793349F10c.1150T>A (p.Tyr384Asn)
c.*141T>A (n.*141T>A)
c.1018T>A (p.Tyr340Asn)
13g.113149200T>CCA388793352F10c.1150T>C (p.Tyr384His)
c.*141T>C (n.*141T>C)
c.1018T>C (p.Tyr340His)
13g.113149200T>GCA388793355F10c.1150T>G (p.Tyr384Asp)
c.*141T>G (n.*141T>G)
c.1018T>G (p.Tyr340Asp)
13g.113149200_113149217delinsTACGTGGACCGCAACAGCCA2120140304F10c.1150_1167delinsTACGTGGACCGCAACAGC (p.Tyr384=)
c.*141_*158delinsTACGTGGACCGCAACAGC (n.*141_*158delinsTACGTGGACCGCAACAGC)
c.1018_1035delinsTACGTGGACCGCAACAGC (p.Tyr340=)
13g.113149201A=CA2120140307F10c.1151A= (p.Tyr384=)
c.*142A= (n.*142A=)
c.1019A= (p.Tyr340=)
13g.113149201A>CCA388793357F10c.1151A>C (p.Tyr384Ser)
c.*142A>C (n.*142A>C)
c.1019A>C (p.Tyr340Ser)
13g.113149201A>GCA7060694F10c.1151A>G (p.Tyr384Cys)
c.*142A>G (n.*142A>G)
c.1019A>G (p.Tyr340Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149201A>TCA388793359F10c.1151A>T (p.Tyr384Phe)
c.*142A>T (n.*142A>T)
c.1019A>T (p.Tyr340Phe)
 gnomAD v4
13g.113149201_113149217delCA612868319F10c.1151_1167del (p.Tyr384LeufsTer?)
c.*142_*158del (n.*142_*158del)
c.1019_1035del (p.Tyr340LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
13g.113149202C>ACA388793365F10c.1152C>A (p.Tyr384Ter)
c.*143C>A (n.*143C>A)
c.1020C>A (p.Tyr340Ter)
 dbSNP gnomAD v2
13g.113149202C=CA2120140309F10c.1152C= (p.Tyr384=)
c.*143C= (n.*143C=)
c.1020C= (p.Tyr340=)
13g.113149202C>GCA388793363F10c.1152C>G (p.Tyr384Ter)
c.*143C>G (n.*143C>G)
c.1020C>G (p.Tyr340Ter)
13g.113149202C>TCA7060695F10c.1152C>T (p.Tyr384=)
c.*143C>T (n.*143C>T)
c.1020C>T (p.Tyr340=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149202_113149218delCA658795160F10c.1152_1168del (p.Tyr384Ter)
c.*143_*159del (n.*143_*159del)
c.1020_1036del (p.Tyr340Ter)
13g.113149203G>ACA7060696F10c.1153G>A (p.Val385Met)
c.*144G>A (n.*144G>A)
c.1021G>A (p.Val341Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149203G>CCA388793369F10c.1153G>C (p.Val385Leu)
c.*144G>C (n.*144G>C)
c.1021G>C (p.Val341Leu)
13g.113149203G=CA2120140312F10c.1153G= (p.Val385=)
c.*144G= (n.*144G=)
c.1021G= (p.Val341=)
13g.113149203G>TCA388793370F10c.1153G>T (p.Val385Leu)
c.*144G>T (n.*144G>T)
c.1021G>T (p.Val341Leu)
13g.113149204T>ACA388793372F10c.1154T>A (p.Val385Glu)
c.*145T>A (n.*145T>A)
c.1022T>A (p.Val341Glu)
13g.113149204T>CCA388793373F10c.1154T>C (p.Val385Ala)
c.*145T>C (n.*145T>C)
c.1022T>C (p.Val341Ala)
13g.113149204T>GCA388793375F10c.1154T>G (p.Val385Gly)
c.*145T>G (n.*145T>G)
c.1022T>G (p.Val341Gly)
13g.113149205G>ACA485424194F10c.1155G>A (p.Val385=)
c.*146G>A (n.*146G>A)
c.1023G>A (p.Val341=)
13g.113149205G>CCA485424192F10c.1155G>C (p.Val385=)
c.*146G>C (n.*146G>C)
c.1023G>C (p.Val341=)
13g.113149205G>TCA485424193F10c.1155G>T (p.Val385=)
c.*146G>T (n.*146G>T)
c.1023G>T (p.Val341=)
13g.113149206G>ACA388793376F10c.1156G>A (p.Asp386Asn)
c.*147G>A (n.*147G>A)
c.1024G>A (p.Asp342Asn)
13g.113149206G>CCA388793382F10c.1156G>C (p.Asp386His)
c.*147G>C (n.*147G>C)
c.1024G>C (p.Asp342His)
13g.113149206G>TCA388793378F10c.1156G>T (p.Asp386Tyr)
c.*147G>T (n.*147G>T)
c.1024G>T (p.Asp342Tyr)
13g.113149207A>CCA388793388F10c.1157A>C (p.Asp386Ala)
c.*148A>C (n.*148A>C)
c.1025A>C (p.Asp342Ala)
 gnomAD v4
13g.113149207A>GCA388793390F10c.1157A>G (p.Asp386Gly)
c.*148A>G (n.*148A>G)
c.1025A>G (p.Asp342Gly)
13g.113149207A>TCA388793393F10c.1157A>T (p.Asp386Val)
c.*148A>T (n.*148A>T)
c.1025A>T (p.Asp342Val)
13g.113149208C>ACA388793395F10c.1158C>A (p.Asp386Glu)
c.*149C>A (n.*149C>A)
c.1026C>A (p.Asp342Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.113149208C=CA2120140315F10c.1158C= (p.Asp386=)
c.*149C= (n.*149C=)
c.1026C= (p.Asp342=)
13g.113149208C>GCA388793397F10c.1158C>G (p.Asp386Glu)
c.*149C>G (n.*149C>G)
c.1026C>G (p.Asp342Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.113149208C>TCA485424196F10c.1158C>T (p.Asp386=)
c.*149C>T (n.*149C>T)
c.1026C>T (p.Asp342=)
 gnomAD v4
13g.113149209C>ACA388793399F10c.1159C>A (p.Arg387Ser)
c.*150C>A (n.*150C>A)
c.1027C>A (p.Arg343Ser)
13g.113149209C=CA2120140319F10c.1159C= (p.Arg387=)
c.*150C= (n.*150C=)
c.1027C= (p.Arg343=)
13g.113149209C>GCA388793401F10c.1159C>G (p.Arg387Gly)
c.*150C>G (n.*150C>G)
c.1027C>G (p.Arg343Gly)
 gnomAD v4
13g.113149209C>TCA7060697F10c.1159C>T (p.Arg387Cys)
c.*150C>T (n.*150C>T)
c.1027C>T (p.Arg343Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149210G>ACA388793403F10c.1160G>A (p.Arg387His)
c.*151G>A (n.*151G>A)
c.1028G>A (p.Arg343His)
 dbSNP gnomAD v4 COSMIC
13g.113149210G>CCA388793404F10c.1160G>C (p.Arg387Pro)
c.*151G>C (n.*151G>C)
c.1028G>C (p.Arg343Pro)
13g.113149210G=CA2120140323F10c.1160G= (p.Arg387=)
c.*151G= (n.*151G=)
c.1028G= (p.Arg343=)
13g.113149210G>TCA388793407F10c.1160G>T (p.Arg387Leu)
c.*151G>T (n.*151G>T)
c.1028G>T (p.Arg343Leu)
13g.113149211C>ACA485424199F10c.1161C>A (p.Arg387=)
c.*152C>A (n.*152C>A)
c.1029C>A (p.Arg343=)
13g.113149211C>GCA485424201F10c.1161C>G (p.Arg387=)
c.*152C>G (n.*152C>G)
c.1029C>G (p.Arg343=)
13g.113149211C>TCA485424202F10c.1161C>T (p.Arg387=)
c.*152C>T (n.*152C>T)
c.1029C>T (p.Arg343=)
13g.113149212A>CCA388793411F10c.1162A>C (p.Asn388His)
c.*153A>C (n.*153A>C)
c.1030A>C (p.Asn344His)
13g.113149212A>GCA388793414F10c.1162A>G (p.Asn388Asp)
c.*153A>G (n.*153A>G)
c.1030A>G (p.Asn344Asp)
13g.113149212A>TCA388793412F10c.1162A>T (p.Asn388Tyr)
c.*153A>T (n.*153A>T)
c.1030A>T (p.Asn344Tyr)
13g.113149213A=CA2120140325F10c.1163A= (p.Asn388=)
c.*154A= (n.*154A=)
c.1031A= (p.Asn344=)
13g.113149213A>CCA388793415F10c.1163A>C (p.Asn388Thr)
c.*154A>C (n.*154A>C)
c.1031A>C (p.Asn344Thr)
13g.113149213A>GCA7060698F10c.1163A>G (p.Asn388Ser)
c.*154A>G (n.*154A>G)
c.1031A>G (p.Asn344Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149213A>TCA388793418F10c.1163A>T (p.Asn388Ile)
c.*154A>T (n.*154A>T)
c.1031A>T (p.Asn344Ile)
13g.113149214C>ACA7060699F10c.1164C>A (p.Asn388Lys)
c.*155C>A (n.*155C>A)
c.1032C>A (p.Asn344Lys)
 dbSNP ExAC gnomAD v2
13g.113149214C=CA2120140327F10c.1164C= (p.Asn388=)
c.*155C= (n.*155C=)
c.1032C= (p.Asn344=)
13g.113149214C>GCA388793420F10c.1164C>G (p.Asn388Lys)
c.*155C>G (n.*155C>G)
c.1032C>G (p.Asn344Lys)
13g.113149214C>TCA485424203F10c.1164C>T (p.Asn388=)
c.*155C>T (n.*155C>T)
c.1032C>T (p.Asn344=)
 gnomAD v4
13g.113149215A=CA2120140329F10c.1165A= (p.Ser389=)
c.*156A= (n.*156A=)
c.1033A= (p.Ser345=)
13g.113149215A>CCA256478712F10c.1165A>C (p.Ser389Arg)
c.*156A>C (n.*156A>C)
c.1033A>C (p.Ser345Arg)
 dbSNP
13g.113149215A>GCA388793423F10c.1165A>G (p.Ser389Gly)
c.*156A>G (n.*156A>G)
c.1033A>G (p.Ser345Gly)
13g.113149215A>TCA388793425F10c.1165A>T (p.Ser389Cys)
c.*156A>T (n.*156A>T)
c.1033A>T (p.Ser345Cys)
13g.113149216G>ACA388793428F10c.1166G>A (p.Ser389Asn)
c.*157G>A (n.*157G>A)
c.1034G>A (p.Ser345Asn)
13g.113149216G>CCA388793429F10c.1166G>C (p.Ser389Thr)
c.*157G>C (n.*157G>C)
c.1034G>C (p.Ser345Thr)
 gnomAD v4
13g.113149216G>TCA388793432F10c.1166G>T (p.Ser389Ile)
c.*157G>T (n.*157G>T)
c.1034G>T (p.Ser345Ile)
13g.113149217C>ACA388793434F10c.1167C>A (p.Ser389Arg)
c.*158C>A (n.*158C>A)
c.1035C>A (p.Ser345Arg)
13g.113149217C>GCA388793435F10c.1167C>G (p.Ser389Arg)
c.*158C>G (n.*158C>G)
c.1035C>G (p.Ser345Arg)
13g.113149217C>TCA485424205F10c.1167C>T (p.Ser389=)
c.*158C>T (n.*158C>T)
c.1035C>T (p.Ser345=)
13g.113149218T>ACA388793438F10c.1168T>A (p.Cys390Ser)
c.*159T>A (n.*159T>A)
c.1036T>A (p.Cys346Ser)
13g.113149218T>CCA388793442F10c.1168T>C (p.Cys390Arg)
c.*159T>C (n.*159T>C)
c.1036T>C (p.Cys346Arg)
13g.113149218T>GCA388793440F10c.1168T>G (p.Cys390Gly)
c.*159T>G (n.*159T>G)
c.1036T>G (p.Cys346Gly)
13g.113149219G>ACA388793444F10c.1169G>A (p.Cys390Tyr)
c.*160G>A (n.*160G>A)
c.1037G>A (p.Cys346Tyr)
 gnomAD v4
13g.113149219G>CCA388793446F10c.1169G>C (p.Cys390Ser)
c.*160G>C (n.*160G>C)
c.1037G>C (p.Cys346Ser)
 gnomAD v4
13g.113149219G=CA2120140333F10c.1169G= (p.Cys390=)
c.*160G= (n.*160G=)
c.1037G= (p.Cys346=)
13g.113149219G>TCA7060700F10c.1169G>T (p.Cys390Phe)
c.*160G>T (n.*160G>T)
c.1037G>T (p.Cys346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149220C>ACA388793451F10c.1170C>A (p.Cys390Ter)
c.*161C>A (n.*161C>A)
c.1038C>A (p.Cys346Ter)
13g.113149220C>GCA388793456F10c.1170C>G (p.Cys390Trp)
c.*161C>G (n.*161C>G)
c.1038C>G (p.Cys346Trp)
13g.113149220C>TCA485424208F10c.1170C>T (p.Cys390=)
c.*161C>T (n.*161C>T)
c.1038C>T (p.Cys346=)
13g.113149221A>CCA388793458F10c.1171A>C (p.Lys391Gln)
c.*162A>C (n.*162A>C)
c.1039A>C (p.Lys347Gln)
13g.113149221A>GCA388793461F10c.1171A>G (p.Lys391Glu)
c.*162A>G (n.*162A>G)
c.1039A>G (p.Lys347Glu)
13g.113149221A>TCA388793462F10c.1171A>T (p.Lys391Ter)
c.*162A>T (n.*162A>T)
c.1039A>T (p.Lys347Ter)
13g.113149222A>CCA388793465F10c.1172A>C (p.Lys391Thr)
c.*163A>C (n.*163A>C)
c.1040A>C (p.Lys347Thr)
13g.113149222A>GCA388793468F10c.1172A>G (p.Lys391Arg)
c.*163A>G (n.*163A>G)
c.1040A>G (p.Lys347Arg)
13g.113149222A>TCA388793471F10c.1172A>T (p.Lys391Met)
c.*163A>T (n.*163A>T)
c.1040A>T (p.Lys347Met)
13g.113149223G>ACA485424210F10c.1173G>A (p.Lys391=)
c.*164G>A (n.*164G>A)
c.1041G>A (p.Lys347=)
13g.113149223G>CCA388793476F10c.1173G>C (p.Lys391Asn)
c.*164G>C (n.*164G>C)
c.1041G>C (p.Lys347Asn)
13g.113149223G>TCA388793474F10c.1173G>T (p.Lys391Asn)
c.*164G>T (n.*164G>T)
c.1041G>T (p.Lys347Asn)
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

Number of alleles fetched