Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770063A>CCA386302473GNPTABc.1242T>G (p.Asp414Glu)
c.1161T>G (p.Asp387Glu)
c.1026T>G (p.Asp342Glu)
c.15T>G (p.Asp5Glu)
12g.101770063A>GCA481577842GNPTABc.1242T>C (p.Asp414=)
c.1161T>C (p.Asp387=)
c.1026T>C (p.Asp342=)
c.15T>C (p.Asp5=)
12g.101770063A>TCA386302474GNPTABc.1242T>A (p.Asp414Glu)
c.1161T>A (p.Asp387Glu)
c.1026T>A (p.Asp342Glu)
c.15T>A (p.Asp5Glu)
12g.101770064T>ACA386302478GNPTABc.1241A>T (p.Asp414Val)
c.1160A>T (p.Asp387Val)
c.1025A>T (p.Asp342Val)
c.14A>T (p.Asp5Val)
 dbSNP gnomAD v3 gnomAD v4
12g.101770064T>CCA386302477GNPTABc.1241A>G (p.Asp414Gly)
c.1160A>G (p.Asp387Gly)
c.1025A>G (p.Asp342Gly)
c.14A>G (p.Asp5Gly)
 gnomAD v4
12g.101770064T>GCA6746677GNPTABc.1241A>C (p.Asp414Ala)
c.1160A>C (p.Asp387Ala)
c.1025A>C (p.Asp342Ala)
c.14A>C (p.Asp5Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770064T=CA2058957853GNPTABc.1241A= (p.Asp414=)
c.1160A= (p.Asp387=)
c.1025A= (p.Asp342=)
c.14A= (p.Asp5=)
12g.101770065C>ACA386302480GNPTABc.1240G>T (p.Asp414Tyr)
c.1159G>T (p.Asp387Tyr)
c.1024G>T (p.Asp342Tyr)
c.13G>T (p.Asp5Tyr)
12g.101770065C>GCA386302481GNPTABc.1240G>C (p.Asp414His)
c.1159G>C (p.Asp387His)
c.1024G>C (p.Asp342His)
c.13G>C (p.Asp5His)
12g.101770065C>TCA386302482GNPTABc.1240G>A (p.Asp414Asn)
c.1159G>A (p.Asp387Asn)
c.1024G>A (p.Asp342Asn)
c.13G>A (p.Asp5Asn)
12g.101770066C>ACA386302484GNPTABc.1239G>T (p.Lys413Asn)
c.1158G>T (p.Lys386Asn)
c.1023G>T (p.Lys341Asn)
c.12G>T (p.Lys4Asn)
 dbSNP
12g.101770066C=CA2058957854GNPTABc.1239G= (p.Lys413=)
c.1158G= (p.Lys386=)
c.1023G= (p.Lys341=)
c.12G= (p.Lys4=)
12g.101770066C>GCA386302485GNPTABc.1239G>C (p.Lys413Asn)
c.1158G>C (p.Lys386Asn)
c.1023G>C (p.Lys341Asn)
c.12G>C (p.Lys4Asn)
12g.101770066C>TCA481577843GNPTABc.1239G>A (p.Lys413=)
c.1158G>A (p.Lys386=)
c.1023G>A (p.Lys341=)
c.12G>A (p.Lys4=)
 ClinVar
12g.101770067T>ACA386302490GNPTABc.1238A>T (p.Lys413Met)
c.1157A>T (p.Lys386Met)
c.1022A>T (p.Lys341Met)
c.11A>T (p.Lys4Met)
12g.101770067T>CCA386302488GNPTABc.1238A>G (p.Lys413Arg)
c.1157A>G (p.Lys386Arg)
c.1022A>G (p.Lys341Arg)
c.11A>G (p.Lys4Arg)
12g.101770067T>GCA386302486GNPTABc.1238A>C (p.Lys413Thr)
c.1157A>C (p.Lys386Thr)
c.1022A>C (p.Lys341Thr)
c.11A>C (p.Lys4Thr)
 COSMIC COSMIC
12g.101770068T>ACA386302491GNPTABc.1237A>T (p.Lys413Ter)
c.1156A>T (p.Lys386Ter)
c.1021A>T (p.Lys341Ter)
c.10A>T (p.Lys4Ter)
12g.101770068T>CCA386302492GNPTABc.1237A>G (p.Lys413Glu)
c.1156A>G (p.Lys386Glu)
c.1021A>G (p.Lys341Glu)
c.10A>G (p.Lys4Glu)
 ClinVar
12g.101770068T>GCA386302493GNPTABc.1237A>C (p.Lys413Gln)
c.1156A>C (p.Lys386Gln)
c.1021A>C (p.Lys341Gln)
c.10A>C (p.Lys4Gln)
12g.101770069C>ACA481577844GNPTABc.1236G>T (p.Gly412=)
c.1155G>T (p.Gly385=)
c.1020G>T (p.Gly340=)
c.9G>T (p.Gly3=)
12g.101770069C=CA2058957855GNPTABc.1236G= (p.Gly412=)
c.1155G= (p.Gly385=)
c.1020G= (p.Gly340=)
c.9G= (p.Gly3=)
12g.101770069C>GCA481577845GNPTABc.1236G>C (p.Gly412=)
c.1155G>C (p.Gly385=)
c.1020G>C (p.Gly340=)
c.9G>C (p.Gly3=)
12g.101770069C>TCA481577846GNPTABc.1236G>A (p.Gly412=)
c.1155G>A (p.Gly385=)
c.1020G>A (p.Gly340=)
c.9G>A (p.Gly3=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770070C>ACA386302495GNPTABc.1235G>T (p.Gly412Val)
c.1154G>T (p.Gly385Val)
c.1019G>T (p.Gly340Val)
c.8G>T (p.Gly3Val)
12g.101770070C>GCA386302496GNPTABc.1235G>C (p.Gly412Ala)
c.1154G>C (p.Gly385Ala)
c.1019G>C (p.Gly340Ala)
c.8G>C (p.Gly3Ala)
12g.101770070C>TCA386302498GNPTABc.1235G>A (p.Gly412Glu)
c.1154G>A (p.Gly385Glu)
c.1019G>A (p.Gly340Glu)
c.8G>A (p.Gly3Glu)
12g.101770071C>ACA6746678GNPTABc.1234G>T (p.Gly412Trp)
c.1153G>T (p.Gly385Trp)
c.1018G>T (p.Gly340Trp)
c.7G>T (p.Gly3Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770071C=CA2058957856GNPTABc.1234G= (p.Gly412=)
c.1153G= (p.Gly385=)
c.1018G= (p.Gly340=)
c.7G= (p.Gly3=)
12g.101770071C>GCA386302502GNPTABc.1234G>C (p.Gly412Arg)
c.1153G>C (p.Gly385Arg)
c.1018G>C (p.Gly340Arg)
c.7G>C (p.Gly3Arg)
 gnomAD v4
12g.101770071C>TCA386302501GNPTABc.1234G>A (p.Gly412Arg)
c.1153G>A (p.Gly385Arg)
c.1018G>A (p.Gly340Arg)
c.7G>A (p.Gly3Arg)
12g.101770072A=CA2058957857GNPTABc.1233T= (p.Phe411=)
c.1152T= (p.Phe384=)
c.1017T= (p.Phe339=)
c.6T= (p.Phe2=)
12g.101770072A>CCA386302503GNPTABc.1233T>G (p.Phe411Leu)
c.1152T>G (p.Phe384Leu)
c.1017T>G (p.Phe339Leu)
c.6T>G (p.Phe2Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.101770072A>GCA481577847GNPTABc.1233T>C (p.Phe411=)
c.1152T>C (p.Phe384=)
c.1017T>C (p.Phe339=)
c.6T>C (p.Phe2=)
12g.101770072A>TCA386302504GNPTABc.1233T>A (p.Phe411Leu)
c.1152T>A (p.Phe384Leu)
c.1017T>A (p.Phe339Leu)
c.6T>A (p.Phe2Leu)
12g.101770073A>CCA386302506GNPTABc.1232T>G (p.Phe411Cys)
c.1151T>G (p.Phe384Cys)
c.1016T>G (p.Phe339Cys)
c.5T>G (p.Phe2Cys)
12g.101770073A>GCA386302508GNPTABc.1232T>C (p.Phe411Ser)
c.1151T>C (p.Phe384Ser)
c.1016T>C (p.Phe339Ser)
c.5T>C (p.Phe2Ser)
12g.101770073A>TCA386302509GNPTABc.1232T>A (p.Phe411Tyr)
c.1151T>A (p.Phe384Tyr)
c.1016T>A (p.Phe339Tyr)
c.5T>A (p.Phe2Tyr)
12g.101770074A>CCA386302511GNPTABc.1231T>G (p.Phe411Val)
c.1150T>G (p.Phe384Val)
c.1015T>G (p.Phe339Val)
c.4T>G (p.Phe2Val)
12g.101770074A>GCA386302512GNPTABc.1231T>C (p.Phe411Leu)
c.1150T>C (p.Phe384Leu)
c.1015T>C (p.Phe339Leu)
c.4T>C (p.Phe2Leu)
12g.101770074A>TCA386302513GNPTABc.1231T>A (p.Phe411Ile)
c.1150T>A (p.Phe384Ile)
c.1015T>A (p.Phe339Ile)
c.4T>A (p.Phe2Ile)
12g.101770075C>ACA386302515GNPTABc.1230G>T (p.Met410Ile)
c.1149G>T (p.Met383Ile)
c.1014G>T (p.Met338Ile)
c.3G>T (p.Met1Ile)
12g.101770075C=CA2058957858GNPTABc.1230G= (p.Met410=)
c.1149G= (p.Met383=)
c.1014G= (p.Met338=)
c.3G= (p.Met1=)
12g.101770075C>GCA6746679GNPTABc.1230G>C (p.Met410Ile)
c.1149G>C (p.Met383Ile)
c.1014G>C (p.Met338Ile)
c.3G>C (p.Met1Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770075C>TCA386302516GNPTABc.1230G>A (p.Met410Ile)
c.1149G>A (p.Met383Ile)
c.1014G>A (p.Met338Ile)
c.3G>A (p.Met1Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770076A=CA2058957859GNPTABc.1229T= (p.Met410=)
c.1148T= (p.Met383=)
c.1013T= (p.Met338=)
c.2T= (p.Met1=)
12g.101770076A>CCA386302522GNPTABc.1229T>G (p.Met410Arg)
c.1148T>G (p.Met383Arg)
c.1013T>G (p.Met338Arg)
c.2T>G (p.Met1Arg)
12g.101770076A>GCA386302520GNPTABc.1229T>C (p.Met410Thr)
c.1148T>C (p.Met383Thr)
c.1013T>C (p.Met338Thr)
c.2T>C (p.Met1Thr)
12g.101770076A>TCA386302518GNPTABc.1229T>A (p.Met410Lys)
c.1148T>A (p.Met383Lys)
c.1013T>A (p.Met338Lys)
c.2T>A (p.Met1Lys)
 dbSNP
12g.101770077T>ACA386302524GNPTABc.1228A>T (p.Met410Leu)
c.1147A>T (p.Met383Leu)
c.1012A>T (p.Met338Leu)
c.1A>T (p.Met1Leu)
12g.101770077T>CCA386302528GNPTABc.1228A>G (p.Met410Val)
c.1147A>G (p.Met383Val)
c.1012A>G (p.Met338Val)
c.1A>G (p.Met1Val)
 gnomAD v4
12g.101770077T>GCA386302526GNPTABc.1228A>C (p.Met410Leu)
c.1147A>C (p.Met383Leu)
c.1012A>C (p.Met338Leu)
c.1A>C (p.Met1Leu)
12g.101770077_101770078delCA2797214817GNPTABc.1227_1228del (p.Met410ValfsTer9)
c.1146_1147del (p.Met383ValfsTer9)
c.1011_1012del (p.Met338ValfsTer9)
c.-1_1del
12g.101770078G>ACA481577850GNPTABc.1227C>T (p.Val409=)
c.1146C>T (p.Val382=)
c.1011C>T (p.Val337=)
c.-1C>T (n.-1C>T)
12g.101770078G>CCA481577849GNPTABc.1227C>G (p.Val409=)
c.1146C>G (p.Val382=)
c.1011C>G (p.Val337=)
c.-1C>G (n.-1C>G)
12g.101770078G>TCA481577848GNPTABc.1227C>A (p.Val409=)
c.1146C>A (p.Val382=)
c.1011C>A (p.Val337=)
c.-1C>A (n.-1C>A)
 ClinVar gnomAD v4
12g.101770079A>CCA386302530GNPTABc.1226T>G (p.Val409Gly)
c.1145T>G (p.Val382Gly)
c.1010T>G (p.Val337Gly)
c.-2T>G (n.-2T>G)
12g.101770079A>GCA386302531GNPTABc.1226T>C (p.Val409Ala)
c.1145T>C (p.Val382Ala)
c.1010T>C (p.Val337Ala)
c.-2T>C (n.-2T>C)
12g.101770079A>TCA386302533GNPTABc.1226T>A (p.Val409Asp)
c.1145T>A (p.Val382Asp)
c.1010T>A (p.Val337Asp)
c.-2T>A (n.-2T>A)
12g.101770080C>ACA386302534GNPTABc.1225G>T (p.Val409Phe)
c.1144G>T (p.Val382Phe)
c.1009G>T (p.Val337Phe)
c.-3G>T (n.-3G>T)
12g.101770080C>GCA386302536GNPTABc.1225G>C (p.Val409Leu)
c.1144G>C (p.Val382Leu)
c.1009G>C (p.Val337Leu)
c.-3G>C (n.-3G>C)
12g.101770080C>TCA386302537GNPTABc.1225G>A (p.Val409Ile)
c.1144G>A (p.Val382Ile)
c.1009G>A (p.Val337Ile)
c.-3G>A (n.-3G>A)
 gnomAD v4
12g.101770086_101770088delCA2620451322GNPTABc.1223_1225del (p.Asp408del)
c.1142_1144del (p.Asp381del)
c.1007_1009del (p.Asp336del)
c.-5_-3del (n.-5_-3del)
 gnomAD v4
12g.101770081A>CCA386302539GNPTABc.1224T>G (p.Asp408Glu)
c.1143T>G (p.Asp381Glu)
c.1008T>G (p.Asp336Glu)
c.-4T>G (n.-4T>G)
12g.101770081A>GCA481577851GNPTABc.1224T>C (p.Asp408=)
c.1143T>C (p.Asp381=)
c.1008T>C (p.Asp336=)
c.-4T>C (n.-4T>C)
12g.101770081A>TCA386302540GNPTABc.1224T>A (p.Asp408Glu)
c.1143T>A (p.Asp381Glu)
c.1008T>A (p.Asp336Glu)
c.-4T>A (n.-4T>A)
12g.101770082T>ACA386302541GNPTABc.1223A>T (p.Asp408Val)
c.1142A>T (p.Asp381Val)
c.1007A>T (p.Asp336Val)
c.-5A>T (n.-5A>T)
12g.101770082T>CCA386302542GNPTABc.1223A>G (p.Asp408Gly)
c.1142A>G (p.Asp381Gly)
c.1007A>G (p.Asp336Gly)
c.-5A>G (n.-5A>G)
12g.101770082T>GCA386302543GNPTABc.1223A>C (p.Asp408Ala)
c.1142A>C (p.Asp381Ala)
c.1007A>C (p.Asp336Ala)
c.-5A>C (n.-5A>C)
12g.101770082_101770083delinsTCCA2058957860GNPTABc.1222_1223delinsGA (p.Asp408=)
c.1141_1142delinsGA (p.Asp381=)
c.1006_1007delinsGA (p.Asp336=)
c.-6_-5delinsGA (n.-6_-5delinsGA)
12g.101770083delCA6746680GNPTABc.1222del (p.Asp408MetfsTer24)
c.1141del (p.Asp381MetfsTer24)
c.1006del (p.Asp336MetfsTer24)
c.-6del (n.-6del)
 dbSNP ExAC gnomAD v2
12g.101770083C>ACA386302548GNPTABc.1222G>T (p.Asp408Tyr)
c.1141G>T (p.Asp381Tyr)
c.1006G>T (p.Asp336Tyr)
c.-6G>T (n.-6G>T)
12g.101770083C>GCA386302547GNPTABc.1222G>C (p.Asp408His)
c.1141G>C (p.Asp381His)
c.1006G>C (p.Asp336His)
c.-6G>C (n.-6G>C)
12g.101770083C>TCA386302546GNPTABc.1222G>A (p.Asp408Asn)
c.1141G>A (p.Asp381Asn)
c.1006G>A (p.Asp336Asn)
c.-6G>A (n.-6G>A)
12g.101770084A>CCA386302550GNPTABc.1221T>G (p.Asp407Glu)
c.1140T>G (p.Asp380Glu)
c.1005T>G (p.Asp335Glu)
c.-7T>G (n.-7T>G)
12g.101770084A>GCA481577852GNPTABc.1221T>C (p.Asp407=)
c.1140T>C (p.Asp380=)
c.1005T>C (p.Asp335=)
c.-7T>C (n.-7T>C)
 ClinVar dbSNP gnomAD v4
12g.101770084A>TCA386302551GNPTABc.1221T>A (p.Asp407Glu)
c.1140T>A (p.Asp380Glu)
c.1005T>A (p.Asp335Glu)
c.-7T>A (n.-7T>A)
12g.101770085T>ACA386302553GNPTABc.1220A>T (p.Asp407Val)
c.1139A>T (p.Asp380Val)
c.1004A>T (p.Asp335Val)
c.-8A>T (n.-8A>T)
12g.101770085T>CCA242462229GNPTABc.1220A>G (p.Asp407Gly)
c.1139A>G (p.Asp380Gly)
c.1004A>G (p.Asp335Gly)
c.-8A>G (n.-8A>G)
 dbSNP
12g.101770085T>GCA340006GNPTABc.1220A>C (p.Asp407Ala)
c.1139A>C (p.Asp380Ala)
c.1004A>C (p.Asp335Ala)
c.-8A>C (n.-8A>C)
 ClinVar dbSNP
12g.101770085T=CA2058957861GNPTABc.1220A= (p.Asp407=)
c.1139A= (p.Asp380=)
c.1004A= (p.Asp335=)
c.-8A= (n.-8A=)
12g.101770086C>ACA386302556GNPTABc.1219G>T (p.Asp407Tyr)
c.1138G>T (p.Asp380Tyr)
c.1003G>T (p.Asp335Tyr)
c.-9G>T (n.-9G>T)
12g.101770086C=CA2058957862GNPTABc.1219G= (p.Asp407=)
c.1138G= (p.Asp380=)
c.1003G= (p.Asp335=)
c.-9G= (n.-9G=)
12g.101770086C>GCA386302557GNPTABc.1219G>C (p.Asp407His)
c.1138G>C (p.Asp380His)
c.1003G>C (p.Asp335His)
c.-9G>C (n.-9G>C)
12g.101770086C>TCA6746681GNPTABc.1219G>A (p.Asp407Asn)
c.1138G>A (p.Asp380Asn)
c.1003G>A (p.Asp335Asn)
c.-9G>A (n.-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770087A>CCA386302558GNPTABc.1218T>G (p.Asn406Lys)
c.1137T>G (p.Asn379Lys)
c.1002T>G (p.Asn334Lys)
c.-10T>G (n.-10T>G)
12g.101770087A>GCA481577853GNPTABc.1218T>C (p.Asn406=)
c.1137T>C (p.Asn379=)
c.1002T>C (p.Asn334=)
c.-10T>C (n.-10T>C)
 ClinVar dbSNP
12g.101770087A>TCA386302560GNPTABc.1218T>A (p.Asn406Lys)
c.1137T>A (p.Asn379Lys)
c.1002T>A (p.Asn334Lys)
c.-10T>A (n.-10T>A)
12g.101770088T>ACA386302562GNPTABc.1217A>T (p.Asn406Ile)
c.1136A>T (p.Asn379Ile)
c.1001A>T (p.Asn334Ile)
c.-11A>T (n.-11A>T)
12g.101770088T>CCA386302564GNPTABc.1217A>G (p.Asn406Ser)
c.1136A>G (p.Asn379Ser)
c.1001A>G (p.Asn334Ser)
c.-11A>G (n.-11A>G)
12g.101770088T>GCA386302565GNPTABc.1217A>C (p.Asn406Thr)
c.1136A>C (p.Asn379Thr)
c.1001A>C (p.Asn334Thr)
c.-11A>C (n.-11A>C)
12g.101770089T>ACA386302569GNPTABc.1216A>T (p.Asn406Tyr)
c.1135A>T (p.Asn379Tyr)
c.1000A>T (p.Asn334Tyr)
c.-12A>T (n.-12A>T)
12g.101770089T>CCA386302570GNPTABc.1216A>G (p.Asn406Asp)
c.1135A>G (p.Asn379Asp)
c.1000A>G (p.Asn334Asp)
c.-12A>G (n.-12A>G)
12g.101770089T>GCA386302567GNPTABc.1216A>C (p.Asn406His)
c.1135A>C (p.Asn379His)
c.1000A>C (p.Asn334His)
c.-12A>C (n.-12A>C)
12g.101770090T>ACA481577854GNPTABc.1215A>T (p.Leu405=)
c.1134A>T (p.Leu378=)
c.999A>T (p.Leu333=)
c.-13A>T (n.-13A>T)
12g.101770090T>CCA481577855GNPTABc.1215A>G (p.Leu405=)
c.1134A>G (p.Leu378=)
c.999A>G (p.Leu333=)
c.-13A>G (n.-13A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770090T>GCA481577856GNPTABc.1215A>C (p.Leu405=)
c.1134A>C (p.Leu378=)
c.999A>C (p.Leu333=)
c.-13A>C (n.-13A>C)
12g.101770090T=CA2058957863GNPTABc.1215A= (p.Leu405=)
c.1134A= (p.Leu378=)
c.999A= (p.Leu333=)
c.-13A= (n.-13A=)
12g.101770091A>CCA386302572GNPTABc.1214T>G (p.Leu405Arg)
c.1133T>G (p.Leu378Arg)
c.998T>G (p.Leu333Arg)
c.-14T>G (n.-14T>G)
12g.101770091A>GCA386302573GNPTABc.1214T>C (p.Leu405Pro)
c.1133T>C (p.Leu378Pro)
c.998T>C (p.Leu333Pro)
c.-14T>C (n.-14T>C)
12g.101770091A>TCA386302575GNPTABc.1214T>A (p.Leu405Gln)
c.1133T>A (p.Leu378Gln)
c.998T>A (p.Leu333Gln)
c.-14T>A (n.-14T>A)
12g.101770092G>ACA481577857GNPTABc.1213C>T (p.Leu405=)
c.1132C>T (p.Leu378=)
c.997C>T (p.Leu333=)
c.-15C>T (n.-15C>T)
12g.101770092G>CCA386302577GNPTABc.1213C>G (p.Leu405Val)
c.1132C>G (p.Leu378Val)
c.997C>G (p.Leu333Val)
c.-15C>G (n.-15C>G)
12g.101770092G>TCA386302579GNPTABc.1213C>A (p.Leu405Ile)
c.1132C>A (p.Leu378Ile)
c.997C>A (p.Leu333Ile)
c.-15C>A (n.-15C>A)
12g.101770093G>ACA481577858GNPTABc.1212C>T (p.Tyr404=)
c.1131C>T (p.Tyr377=)
c.996C>T (p.Tyr332=)
c.-16C>T (n.-16C>T)
12g.101770093G>CCA386302580GNPTABc.1212C>G (p.Tyr404Ter)
c.1131C>G (p.Tyr377Ter)
c.996C>G (p.Tyr332Ter)
c.-16C>G (n.-16C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770093G=CA2058957864GNPTABc.1212C= (p.Tyr404=)
c.1131C= (p.Tyr377=)
c.996C= (p.Tyr332=)
c.-16C= (n.-16C=)
12g.101770093G>TCA386302582GNPTABc.1212C>A (p.Tyr404Ter)
c.1131C>A (p.Tyr377Ter)
c.996C>A (p.Tyr332Ter)
c.-16C>A (n.-16C>A)
12g.101770094T>ACA386302583GNPTABc.1211A>T (p.Tyr404Phe)
c.1130A>T (p.Tyr377Phe)
c.995A>T (p.Tyr332Phe)
c.-17A>T (n.-17A>T)
12g.101770094T>CCA386302585GNPTABc.1211A>G (p.Tyr404Cys)
c.1130A>G (p.Tyr377Cys)
c.995A>G (p.Tyr332Cys)
c.-17A>G (n.-17A>G)
12g.101770094T>GCA386302586GNPTABc.1211A>C (p.Tyr404Ser)
c.1130A>C (p.Tyr377Ser)
c.995A>C (p.Tyr332Ser)
c.-17A>C (n.-17A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770094T=CA2058957865GNPTABc.1211A= (p.Tyr404=)
c.1130A= (p.Tyr377=)
c.995A= (p.Tyr332=)
c.-17A= (n.-17A=)
12g.101770095A>CCA386302588GNPTABc.1210T>G (p.Tyr404Asp)
c.1129T>G (p.Tyr377Asp)
c.994T>G (p.Tyr332Asp)
c.-18T>G (n.-18T>G)
12g.101770095A>GCA386302589GNPTABc.1210T>C (p.Tyr404His)
c.1129T>C (p.Tyr377His)
c.994T>C (p.Tyr332His)
c.-18T>C (n.-18T>C)
12g.101770095A>TCA386302591GNPTABc.1210T>A (p.Tyr404Asn)
c.1129T>A (p.Tyr377Asn)
c.994T>A (p.Tyr332Asn)
c.-18T>A (n.-18T>A)
12g.101770096A=CA2058957866GNPTABc.1209T= (p.Ile403=)
c.1128T= (p.Ile376=)
c.993T= (p.Ile331=)
c.-19T= (n.-19T=)
12g.101770096A>CCA242462233GNPTABc.1209T>G (p.Ile403Met)
c.1128T>G (p.Ile376Met)
c.993T>G (p.Ile331Met)
c.-19T>G (n.-19T>G)
 ClinVar dbSNP
12g.101770096A>GCA481577859GNPTABc.1209T>C (p.Ile403=)
c.1128T>C (p.Ile376=)
c.993T>C (p.Ile331=)
c.-19T>C (n.-19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770096A>TCA481577860GNPTABc.1209T>A (p.Ile403=)
c.1128T>A (p.Ile376=)
c.993T>A (p.Ile331=)
c.-19T>A (n.-19T>A)
12g.101770097A=CA2058957867GNPTABc.1208T= (p.Ile403=)
c.1127T= (p.Ile376=)
c.992T= (p.Ile331=)
c.-20T= (n.-20T=)
12g.101770097A>CCA386302593GNPTABc.1208T>G (p.Ile403Ser)
c.1127T>G (p.Ile376Ser)
c.992T>G (p.Ile331Ser)
c.-20T>G (n.-20T>G)
12g.101770097A>GCA343340GNPTABc.1208T>C (p.Ile403Thr)
c.1127T>C (p.Ile376Thr)
c.992T>C (p.Ile331Thr)
c.-20T>C (n.-20T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770097A>TCA386302595GNPTABc.1208T>A (p.Ile403Asn)
c.1127T>A (p.Ile376Asn)
c.992T>A (p.Ile331Asn)
c.-20T>A (n.-20T>A)
12g.101770098T>ACA386302597GNPTABc.1207A>T (p.Ile403Phe)
c.1126A>T (p.Ile376Phe)
c.991A>T (p.Ile331Phe)
c.-21A>T (n.-21A>T)
12g.101770098T>CCA6746682GNPTABc.1207A>G (p.Ile403Val)
c.1126A>G (p.Ile376Val)
c.991A>G (p.Ile331Val)
c.-21A>G (n.-21A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.101770098T>GCA386302599GNPTABc.1207A>C (p.Ile403Leu)
c.1126A>C (p.Ile376Leu)
c.991A>C (p.Ile331Leu)
c.-21A>C (n.-21A>C)
12g.101770098T=CA2058957868GNPTABc.1207A= (p.Ile403=)
c.1126A= (p.Ile376=)
c.991A= (p.Ile331=)
c.-21A= (n.-21A=)
12g.101770099A>CCA386302601GNPTABc.1206T>G (p.Phe402Leu)
c.1125T>G (p.Phe375Leu)
c.990T>G (p.Phe330Leu)
c.-22T>G (n.-22T>G)
12g.101770099A>GCA481577861GNPTABc.1206T>C (p.Phe402=)
c.1125T>C (p.Phe375=)
c.990T>C (p.Phe330=)
c.-22T>C (n.-22T>C)
12g.101770099A>TCA386302603GNPTABc.1206T>A (p.Phe402Leu)
c.1125T>A (p.Phe375Leu)
c.990T>A (p.Phe330Leu)
c.-22T>A (n.-22T>A)
12g.101770101dupCA343339GNPTABc.1206dup (p.Ile403TyrfsTer5)
c.1125dup (p.Ile376TyrfsTer5)
c.990dup (p.Ile331TyrfsTer5)
c.-22dup (n.-22dup)
 ClinVar dbSNP
12g.101770100A>CCA386302605GNPTABc.1205T>G (p.Phe402Cys)
c.1124T>G (p.Phe375Cys)
c.989T>G (p.Phe330Cys)
c.-23T>G (n.-23T>G)
12g.101770100A>GCA386302606GNPTABc.1205T>C (p.Phe402Ser)
c.1124T>C (p.Phe375Ser)
c.989T>C (p.Phe330Ser)
c.-23T>C (n.-23T>C)
12g.101770100A>TCA386302607GNPTABc.1205T>A (p.Phe402Tyr)
c.1124T>A (p.Phe375Tyr)
c.989T>A (p.Phe330Tyr)
c.-23T>A (n.-23T>A)
12g.101770101A=CA2058957869GNPTABc.1204T= (p.Phe402=)
c.1123T= (p.Phe375=)
c.988T= (p.Phe330=)
c.-24T= (n.-24T=)
12g.101770101A>CCA386302611GNPTABc.1204T>G (p.Phe402Val)
c.1123T>G (p.Phe375Val)
c.988T>G (p.Phe330Val)
c.-24T>G (n.-24T>G)
12g.101770101A>GCA6746683GNPTABc.1204T>C (p.Phe402Leu)
c.1123T>C (p.Phe375Leu)
c.988T>C (p.Phe330Leu)
c.-24T>C (n.-24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770101A>TCA386302609GNPTABc.1204T>A (p.Phe402Ile)
c.1123T>A (p.Phe375Ile)
c.988T>A (p.Phe330Ile)
c.-24T>A (n.-24T>A)
12g.101770102C>ACA386302613GNPTABc.1203G>T (p.Lys401Asn)
c.1122G>T (p.Lys374Asn)
c.987G>T (p.Lys329Asn)
c.-25G>T (n.-25G>T)
12g.101770102C>GCA386302615GNPTABc.1203G>C (p.Lys401Asn)
c.1122G>C (p.Lys374Asn)
c.987G>C (p.Lys329Asn)
c.-25G>C (n.-25G>C)
 gnomAD v4
12g.101770102C>TCA481577862GNPTABc.1203G>A (p.Lys401=)
c.1122G>A (p.Lys374=)
c.987G>A (p.Lys329=)
c.-25G>A (n.-25G>A)
12g.101770103T>ACA386302617GNPTABc.1202A>T (p.Lys401Met)
c.1121A>T (p.Lys374Met)
c.986A>T (p.Lys329Met)
c.-26A>T (n.-26A>T)
12g.101770103T>CCA386302619GNPTABc.1202A>G (p.Lys401Arg)
c.1121A>G (p.Lys374Arg)
c.986A>G (p.Lys329Arg)
c.-26A>G (n.-26A>G)
 gnomAD v4
12g.101770103T>GCA386302620GNPTABc.1202A>C (p.Lys401Thr)
c.1121A>C (p.Lys374Thr)
c.986A>C (p.Lys329Thr)
c.-26A>C (n.-26A>C)
12g.101770104T>ACA386302622GNPTABc.1201A>T (p.Lys401Ter)
c.1120A>T (p.Lys374Ter)
c.985A>T (p.Lys329Ter)
c.-27A>T (n.-27A>T)
12g.101770104T>CCA386302623GNPTABc.1201A>G (p.Lys401Glu)
c.1120A>G (p.Lys374Glu)
c.985A>G (p.Lys329Glu)
c.-27A>G (n.-27A>G)
12g.101770104T>GCA386302625GNPTABc.1201A>C (p.Lys401Gln)
c.1120A>C (p.Lys374Gln)
c.985A>C (p.Lys329Gln)
c.-27A>C (n.-27A>C)
12g.101770105C>ACA386302626GNPTABc.1200G>T (p.Gln400His)
c.1119G>T (p.Gln373His)
c.984G>T (p.Gln328His)
c.-28G>T (n.-28G>T)
 gnomAD v4
12g.101770105C>GCA386302628GNPTABc.1200G>C (p.Gln400His)
c.1119G>C (p.Gln373His)
c.984G>C (p.Gln328His)
c.-28G>C (n.-28G>C)
12g.101770105C>TCA481577863GNPTABc.1200G>A (p.Gln400=)
c.1119G>A (p.Gln373=)
c.984G>A (p.Gln328=)
c.-28G>A (n.-28G>A)
12g.101770106T>ACA386302630GNPTABc.1199A>T (p.Gln400Leu)
c.1118A>T (p.Gln373Leu)
c.983A>T (p.Gln328Leu)
c.-29A>T (n.-29A>T)
12g.101770106T>CCA386302631GNPTABc.1199A>G (p.Gln400Arg)
c.1118A>G (p.Gln373Arg)
c.983A>G (p.Gln328Arg)
c.-29A>G (n.-29A>G)
12g.101770106T>GCA386302633GNPTABc.1199A>C (p.Gln400Pro)
c.1118A>C (p.Gln373Pro)
c.983A>C (p.Gln328Pro)
c.-29A>C (n.-29A>C)
 gnomAD v4
12g.101770107G>ACA386302637GNPTABc.1198C>T (p.Gln400Ter)
c.1117C>T (p.Gln373Ter)
c.982C>T (p.Gln328Ter)
c.-30C>T (n.-30C>T)
 gnomAD v4
12g.101770107G>CCA386302636GNPTABc.1198C>G (p.Gln400Glu)
c.1117C>G (p.Gln373Glu)
c.982C>G (p.Gln328Glu)
c.-30C>G (n.-30C>G)
12g.101770107G>TCA386302634GNPTABc.1198C>A (p.Gln400Lys)
c.1117C>A (p.Gln373Lys)
c.982C>A (p.Gln328Lys)
c.-30C>A (n.-30C>A)
12g.101770108G>ACA481577864GNPTABc.1197C>T (p.Ser399=)
c.1116C>T (p.Ser372=)
c.981C>T (p.Ser327=)
c.-31C>T (n.-31C>T)
12g.101770108G>CCA481577865GNPTABc.1197C>G (p.Ser399=)
c.1116C>G (p.Ser372=)
c.981C>G (p.Ser327=)
c.-31C>G (n.-31C>G)
12g.101770108G>TCA481577866GNPTABc.1197C>A (p.Ser399=)
c.1116C>A (p.Ser372=)
c.981C>A (p.Ser327=)
c.-31C>A (n.-31C>A)
 gnomAD v4
12g.101770109G>ACA343061GNPTABc.1196C>T (p.Ser399Phe)
c.1115C>T (p.Ser372Phe)
c.980C>T (p.Ser327Phe)
c.-32C>T (n.-32C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770109G>CCA386302639GNPTABc.1196C>G (p.Ser399Cys)
c.1115C>G (p.Ser372Cys)
c.980C>G (p.Ser327Cys)
c.-32C>G (n.-32C>G)
12g.101770109G=CA2058957870GNPTABc.1196C= (p.Ser399=)
c.1115C= (p.Ser372=)
c.980C= (p.Ser327=)
c.-32C= (n.-32C=)
12g.101770109G>TCA386302641GNPTABc.1196C>A (p.Ser399Tyr)
c.1115C>A (p.Ser372Tyr)
c.980C>A (p.Ser327Tyr)
c.-32C>A (n.-32C>A)
12g.101770110A=CA2058957871GNPTABc.1195T= (p.Ser399=)
c.1114T= (p.Ser372=)
c.979T= (p.Ser327=)
c.-33T= (n.-33T=)
12g.101770110A>CCA386302642GNPTABc.1195T>G (p.Ser399Ala)
c.1114T>G (p.Ser372Ala)
c.979T>G (p.Ser327Ala)
c.-33T>G (n.-33T>G)
12g.101770110A>GCA6746684GNPTABc.1195T>C (p.Ser399Pro)
c.1114T>C (p.Ser372Pro)
c.979T>C (p.Ser327Pro)
c.-33T>C (n.-33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770110A>TCA386302645GNPTABc.1195T>A (p.Ser399Thr)
c.1114T>A (p.Ser372Thr)
c.979T>A (p.Ser327Thr)
c.-33T>A (n.-33T>A)
12g.101770111C>ACA481577867GNPTABc.1194G>T (p.Leu398=)
c.1113G>T (p.Leu371=)
c.978G>T (p.Leu326=)
c.-34G>T (n.-34G>T)
 gnomAD v4
12g.101770111C>GCA481577868GNPTABc.1194G>C (p.Leu398=)
c.1113G>C (p.Leu371=)
c.978G>C (p.Leu326=)
c.-34G>C (n.-34G>C)
12g.101770111C>TCA481577869GNPTABc.1194G>A (p.Leu398=)
c.1113G>A (p.Leu371=)
c.978G>A (p.Leu326=)
c.-34G>A (n.-34G>A)
12g.101770112_101770115dupCA343338GNPTABc.1191_1194dup (p.Ser399AlafsTer10)
c.1110_1113dup (p.Ser372AlafsTer10)
c.975_978dup (p.Ser327AlafsTer10)
c.-37_-34dup (n.-37_-34dup)
 ClinVar dbSNP gnomAD v4
12g.101770112A=CA2058957872GNPTABc.1193T= (p.Leu398=)
c.1112T= (p.Leu371=)
c.977T= (p.Leu326=)
c.-35T= (n.-35T=)
12g.101770112A>CCA386302648GNPTABc.1193T>G (p.Leu398Arg)
c.1112T>G (p.Leu371Arg)
c.977T>G (p.Leu326Arg)
c.-35T>G (n.-35T>G)
12g.101770112A>GCA386302650GNPTABc.1193T>C (p.Leu398Pro)
c.1112T>C (p.Leu371Pro)
c.977T>C (p.Leu326Pro)
c.-35T>C (n.-35T>C)
12g.101770112A>TCA386302651GNPTABc.1193T>A (p.Leu398Gln)
c.1112T>A (p.Leu371Gln)
c.977T>A (p.Leu326Gln)
c.-35T>A (n.-35T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.101770113G>ACA6746685GNPTABc.1192C>T (p.Leu398=)
c.1111C>T (p.Leu371=)
c.976C>T (p.Leu326=)
c.-36C>T (n.-36C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770113G>CCA386302653GNPTABc.1192C>G (p.Leu398Val)
c.1111C>G (p.Leu371Val)
c.976C>G (p.Leu326Val)
c.-36C>G (n.-36C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101770113G=CA2058957873GNPTABc.1192C= (p.Leu398=)
c.1111C= (p.Leu371=)
c.976C= (p.Leu326=)
c.-36C= (n.-36C=)
12g.101770113G>TCA386302654GNPTABc.1192C>A (p.Leu398Met)
c.1111C>A (p.Leu371Met)
c.976C>A (p.Leu326Met)
c.-36C>A (n.-36C>A)
12g.101770113_101770114delinsGCCA2058957874GNPTABc.1191_1192delinsGC (p.Gly397=)
c.1110_1111delinsGC (p.Gly370=)
c.975_976delinsGC (p.Gly325=)
c.-37_-36delinsGC (n.-37_-36delinsGC)
12g.101770114C>ACA481577870GNPTABc.1191G>T (p.Gly397=)
c.1110G>T (p.Gly370=)
c.975G>T (p.Gly325=)
c.-37G>T (n.-37G>T)
12g.101770114C>GCA481577871GNPTABc.1191G>C (p.Gly397=)
c.1110G>C (p.Gly370=)
c.975G>C (p.Gly325=)
c.-37G>C (n.-37G>C)
12g.101770114C>TCA481577872GNPTABc.1191G>A (p.Gly397=)
c.1110G>A (p.Gly370=)
c.975G>A (p.Gly325=)
c.-37G>A (n.-37G>A)
 ClinVar
12g.101770116delCA607597855GNPTABc.1191del (p.Leu398CysfsTer8)
c.1110del (p.Leu371CysfsTer8)
c.975del (p.Leu326CysfsTer8)
c.-37del (n.-37del)
 dbSNP gnomAD v2 gnomAD v4
12g.101770115C>ACA386302657GNPTABc.1190G>T (p.Gly397Val)
c.1109G>T (p.Gly370Val)
c.974G>T (p.Gly325Val)
c.-38G>T (n.-38G>T)
12g.101770115C>GCA386302658GNPTABc.1190G>C (p.Gly397Ala)
c.1109G>C (p.Gly370Ala)
c.974G>C (p.Gly325Ala)
c.-38G>C (n.-38G>C)
12g.101770115C>TCA386302655GNPTABc.1190G>A (p.Gly397Glu)
c.1109G>A (p.Gly370Glu)
c.974G>A (p.Gly325Glu)
c.-38G>A (n.-38G>A)
 gnomAD v4
12g.101770116C>ACA386302660GNPTABc.1189G>T (p.Gly397Trp)
c.1108G>T (p.Gly370Trp)
c.973G>T (p.Gly325Trp)
c.-39G>T (n.-39G>T)
12g.101770116C>GCA386302662GNPTABc.1189G>C (p.Gly397Arg)
c.1108G>C (p.Gly370Arg)
c.973G>C (p.Gly325Arg)
c.-39G>C (n.-39G>C)
12g.101770116C>TCA386302663GNPTABc.1189G>A (p.Gly397Arg)
c.1108G>A (p.Gly370Arg)
c.973G>A (p.Gly325Arg)
c.-39G>A (n.-39G>A)
12g.101770117T>ACA386302664GNPTABc.1188A>T (p.Glu396Asp)
c.1107A>T (p.Glu369Asp)
c.972A>T (p.Glu324Asp)
c.-40A>T (n.-40A>T)
12g.101770117T>CCA481577873GNPTABc.1188A>G (p.Glu396=)
c.1107A>G (p.Glu369=)
c.972A>G (p.Glu324=)
c.-40A>G (n.-40A>G)
 ClinVar gnomAD v4
12g.101770117T>GCA386302665GNPTABc.1188A>C (p.Glu396Asp)
c.1107A>C (p.Glu369Asp)
c.972A>C (p.Glu324Asp)
c.-40A>C (n.-40A>C)
12g.101770118T>ACA386302671GNPTABc.1187A>T (p.Glu396Val)
c.1106A>T (p.Glu369Val)
c.971A>T (p.Glu324Val)
c.-41A>T (n.-41A>T)
12g.101770118T>CCA386302669GNPTABc.1187A>G (p.Glu396Gly)
c.1106A>G (p.Glu369Gly)
c.971A>G (p.Glu324Gly)
c.-41A>G (n.-41A>G)
12g.101770118T>GCA386302667GNPTABc.1187A>C (p.Glu396Ala)
c.1106A>C (p.Glu369Ala)
c.971A>C (p.Glu324Ala)
c.-41A>C (n.-41A>C)
12g.101770119C>ACA386302672GNPTABc.1186G>T (p.Glu396Ter)
c.1105G>T (p.Glu369Ter)
c.970G>T (p.Glu324Ter)
c.-42G>T (n.-42G>T)
 ClinVar dbSNP
12g.101770119C=CA2058957875GNPTABc.1186G= (p.Glu396=)
c.1105G= (p.Glu369=)
c.970G= (p.Glu324=)
c.-42G= (n.-42G=)
12g.101770119C>GCA386302673GNPTABc.1186G>C (p.Glu396Gln)
c.1105G>C (p.Glu369Gln)
c.970G>C (p.Glu324Gln)
c.-42G>C (n.-42G>C)
12g.101770119C>TCA386302675GNPTABc.1186G>A (p.Glu396Lys)
c.1105G>A (p.Glu369Lys)
c.970G>A (p.Glu324Lys)
c.-42G>A (n.-42G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.101770120G>ACA6746686GNPTABc.1185C>T (p.Ile395=)
c.1104C>T (p.Ile368=)
c.969C>T (p.Ile323=)
c.-43C>T (n.-43C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770120G>CCA386302677GNPTABc.1185C>G (p.Ile395Met)
c.1104C>G (p.Ile368Met)
c.969C>G (p.Ile323Met)
c.-43C>G (n.-43C>G)
 ClinVar dbSNP gnomAD v4
12g.101770120G=CA2058957876GNPTABc.1185C= (p.Ile395=)
c.1104C= (p.Ile368=)
c.969C= (p.Ile323=)
c.-43C= (n.-43C=)
12g.101770120G>TCA242462291GNPTABc.1185C>A (p.Ile395=)
c.1104C>A (p.Ile368=)
c.969C>A (p.Ile323=)
c.-43C>A (n.-43C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770121A=CA2058957877GNPTABc.1184T= (p.Ile395=)
c.1103T= (p.Ile368=)
c.968T= (p.Ile323=)
c.-44T= (n.-44T=)
12g.101770121A>CCA386302679GNPTABc.1184T>G (p.Ile395Ser)
c.1103T>G (p.Ile368Ser)
c.968T>G (p.Ile323Ser)
c.-44T>G (n.-44T>G)
 dbSNP gnomAD v4
12g.101770121A>GCA386302682GNPTABc.1184T>C (p.Ile395Thr)
c.1103T>C (p.Ile368Thr)
c.968T>C (p.Ile323Thr)
c.-44T>C (n.-44T>C)
12g.101770121A>TCA386302681GNPTABc.1184T>A (p.Ile395Asn)
c.1103T>A (p.Ile368Asn)
c.968T>A (p.Ile323Asn)
c.-44T>A (n.-44T>A)
12g.101770122T>ACA386302684GNPTABc.1183A>T (p.Ile395Phe)
c.1102A>T (p.Ile368Phe)
c.967A>T (p.Ile323Phe)
c.-45A>T (n.-45A>T)
12g.101770122T>CCA386302685GNPTABc.1183A>G (p.Ile395Val)
c.1102A>G (p.Ile368Val)
c.967A>G (p.Ile323Val)
c.-45A>G (n.-45A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101770122T>GCA386302686GNPTABc.1183A>C (p.Ile395Leu)
c.1102A>C (p.Ile368Leu)
c.967A>C (p.Ile323Leu)
c.-45A>C (n.-45A>C)
12g.101770122T=CA2058957878GNPTABc.1183A= (p.Ile395=)
c.1102A= (p.Ile368=)
c.967A= (p.Ile323=)
c.-45A= (n.-45A=)
12g.101770123G>ACA481577874GNPTABc.1182C>T (p.Arg394=)
c.1101C>T (p.Arg367=)
c.966C>T (p.Arg322=)
c.-46C>T (n.-46C>T)
 ClinVar dbSNP gnomAD v4
12g.101770123G>CCA481577875GNPTABc.1182C>G (p.Arg394=)
c.1101C>G (p.Arg367=)
c.966C>G (p.Arg322=)
c.-46C>G (n.-46C>G)
12g.101770123G>TCA481577876GNPTABc.1182C>A (p.Arg394=)
c.1101C>A (p.Arg367=)
c.966C>A (p.Arg322=)
c.-46C>A (n.-46C>A)
12g.101770124C>ACA242462312GNPTABc.1181G>T (p.Arg394Leu)
c.1100G>T (p.Arg367Leu)
c.965G>T (p.Arg322Leu)
c.-47G>T (n.-47G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101770124C=CA2058957879GNPTABc.1181G= (p.Arg394=)
c.1100G= (p.Arg367=)
c.965G= (p.Arg322=)
c.-47G= (n.-47G=)
12g.101770124C>GCA386302688GNPTABc.1181G>C (p.Arg394Pro)
c.1100G>C (p.Arg367Pro)
c.965G>C (p.Arg322Pro)
c.-47G>C (n.-47G>C)
12g.101770124C>TCA6746687GNPTABc.1181G>A (p.Arg394His)
c.1100G>A (p.Arg367His)
c.965G>A (p.Arg322His)
c.-47G>A (n.-47G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770125delCA2620451507GNPTABc.1180del (p.Arg394AlafsTer12)
c.1099del (p.Arg367AlafsTer12)
c.964del (p.Arg322AlafsTer12)
c.-48del (n.-48del)
 gnomAD v4
12g.101770125G>ACA386302690GNPTABc.1180C>T (p.Arg394Cys)
c.1099C>T (p.Arg367Cys)
c.964C>T (p.Arg322Cys)
c.-48C>T (n.-48C>T)
 dbSNP gnomAD v4
12g.101770125G>CCA386302692GNPTABc.1180C>G (p.Arg394Gly)
c.1099C>G (p.Arg367Gly)
c.964C>G (p.Arg322Gly)
c.-48C>G (n.-48C>G)
12g.101770125G=CA2058957880GNPTABc.1180C= (p.Arg394=)
c.1099C= (p.Arg367=)
c.964C= (p.Arg322=)
c.-48C= (n.-48C=)
12g.101770125G>TCA386302693GNPTABc.1180C>A (p.Arg394Ser)
c.1099C>A (p.Arg367Ser)
c.964C>A (p.Arg322Ser)
c.-48C>A (n.-48C>A)
 gnomAD v4
12g.101770126A>CCA386302695GNPTABc.1179T>G (p.His393Gln)
c.1098T>G (p.His366Gln)
c.963T>G (p.His321Gln)
c.-49T>G (n.-49T>G)
12g.101770126A>GCA481577877GNPTABc.1179T>C (p.His393=)
c.1098T>C (p.His366=)
c.963T>C (p.His321=)
c.-49T>C (n.-49T>C)
12g.101770126A>TCA386302696GNPTABc.1179T>A (p.His393Gln)
c.1098T>A (p.His366Gln)
c.963T>A (p.His321Gln)
c.-49T>A (n.-49T>A)
12g.101770129_101770132delCA2620451510GNPTABc.1176_1179del (p.His393AlafsTer12)
c.1095_1098del (p.His366AlafsTer12)
c.960_963del (p.His321AlafsTer12)
c.-52_-49del (n.-52_-49del)
 gnomAD v4
12g.101770127T>ACA386302701GNPTABc.1178A>T (p.His393Leu)
c.1097A>T (p.His366Leu)
c.962A>T (p.His321Leu)
c.-50A>T (n.-50A>T)
12g.101770127T>CCA386302703GNPTABc.1178A>G (p.His393Arg)
c.1097A>G (p.His366Arg)
c.962A>G (p.His321Arg)
c.-50A>G (n.-50A>G)
12g.101770127T>GCA386302699GNPTABc.1178A>C (p.His393Pro)
c.1097A>C (p.His366Pro)
c.962A>C (p.His321Pro)
c.-50A>C (n.-50A>C)
12g.101770128G>ACA386302706GNPTABc.1177C>T (p.His393Tyr)
c.1096C>T (p.His366Tyr)
c.961C>T (p.His321Tyr)
c.-51C>T (n.-51C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
12g.101770128G>CCA6746688GNPTABc.1177C>G (p.His393Asp)
c.1096C>G (p.His366Asp)
c.961C>G (p.His321Asp)
c.-51C>G (n.-51C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770128G=CA2058957881GNPTABc.1177C= (p.His393=)
c.1096C= (p.His366=)
c.961C= (p.His321=)
c.-51C= (n.-51C=)
12g.101770128G>TCA386302707GNPTABc.1177C>A (p.His393Asn)
c.1096C>A (p.His366Asn)
c.961C>A (p.His321Asn)
c.-51C>A (n.-51C>A)
 gnomAD v4
12g.101770129A>CCA386302708GNPTABc.1176T>G (p.Ile392Met)
c.1095T>G (p.Ile365Met)
c.960T>G (p.Ile320Met)
c.-52T>G (n.-52T>G)
12g.101770129A>GCA481577878GNPTABc.1176T>C (p.Ile392=)
c.1095T>C (p.Ile365=)
c.960T>C (p.Ile320=)
c.-52T>C (n.-52T>C)
12g.101770129A>TCA481577879GNPTABc.1176T>A (p.Ile392=)
c.1095T>A (p.Ile365=)
c.960T>A (p.Ile320=)
c.-52T>A (n.-52T>A)
12g.101770130A>CCA386302711GNPTABc.1175T>G (p.Ile392Ser)
c.1094T>G (p.Ile365Ser)
c.959T>G (p.Ile320Ser)
c.-53T>G (n.-53T>G)
12g.101770130A>GCA386302709GNPTABc.1175T>C (p.Ile392Thr)
c.1094T>C (p.Ile365Thr)
c.959T>C (p.Ile320Thr)
c.-53T>C (n.-53T>C)
12g.101770130A>TCA386302712GNPTABc.1175T>A (p.Ile392Asn)
c.1094T>A (p.Ile365Asn)
c.959T>A (p.Ile320Asn)
c.-53T>A (n.-53T>A)
12g.101770131T>ACA386302713GNPTABc.1174A>T (p.Ile392Phe)
c.1093A>T (p.Ile365Phe)
c.958A>T (p.Ile320Phe)
c.-54A>T (n.-54A>T)
12g.101770131T>CCA386302716GNPTABc.1174A>G (p.Ile392Val)
c.1093A>G (p.Ile365Val)
c.958A>G (p.Ile320Val)
c.-54A>G (n.-54A>G)
12g.101770131T>GCA386302715GNPTABc.1174A>C (p.Ile392Leu)
c.1093A>C (p.Ile365Leu)
c.958A>C (p.Ile320Leu)
c.-54A>C (n.-54A>C)
12g.101770132G>ACA242462329GNPTABc.1173C>T (p.His391=)
c.1092C>T (p.His364=)
c.957C>T (p.His319=)
c.-55C>T (n.-55C>T)
 ClinVar dbSNP gnomAD v4
12g.101770132G>CCA386302719GNPTABc.1173C>G (p.His391Gln)
c.1092C>G (p.His364Gln)
c.957C>G (p.His319Gln)
c.-55C>G (n.-55C>G)
12g.101770132G=CA2058957882GNPTABc.1173C= (p.His391=)
c.1092C= (p.His364=)
c.957C= (p.His319=)
c.-55C= (n.-55C=)
12g.101770132G>TCA6746689GNPTABc.1173C>A (p.His391Gln)
c.1092C>A (p.His364Gln)
c.957C>A (p.His319Gln)
c.-55C>A (n.-55C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770133T>ACA386302721GNPTABc.1172A>T (p.His391Leu)
c.1091A>T (p.His364Leu)
c.956A>T (p.His319Leu)
c.-56A>T (n.-56A>T)
12g.101770133T>CCA386302722GNPTABc.1172A>G (p.His391Arg)
c.1091A>G (p.His364Arg)
c.956A>G (p.His319Arg)
c.-56A>G (n.-56A>G)
12g.101770133T>GCA386302724GNPTABc.1172A>C (p.His391Pro)
c.1091A>C (p.His364Pro)
c.956A>C (p.His319Pro)
c.-56A>C (n.-56A>C)
12g.101770134G>ACA386302725GNPTABc.1171C>T (p.His391Tyr)
c.1090C>T (p.His364Tyr)
c.955C>T (p.His319Tyr)
c.-57C>T (n.-57C>T)
 gnomAD v4 COSMIC
12g.101770134G>CCA386302726GNPTABc.1171C>G (p.His391Asp)
c.1090C>G (p.His364Asp)
c.955C>G (p.His319Asp)
c.-57C>G (n.-57C>G)
12g.101770134G>TCA386302727GNPTABc.1171C>A (p.His391Asn)
c.1090C>A (p.His364Asn)
c.955C>A (p.His319Asn)
c.-57C>A (n.-57C>A)
12g.101770135A>CCA386302729GNPTABc.1170T>G (p.Ser390Arg)
c.1089T>G (p.Ser363Arg)
c.954T>G (p.Ser318Arg)
c.-58T>G (n.-58T>G)
12g.101770135A>GCA481577880GNPTABc.1170T>C (p.Ser390=)
c.1089T>C (p.Ser363=)
c.954T>C (p.Ser318=)
c.-58T>C (n.-58T>C)
12g.101770135A>TCA386302730GNPTABc.1170T>A (p.Ser390Arg)
c.1089T>A (p.Ser363Arg)
c.954T>A (p.Ser318Arg)
c.-58T>A (n.-58T>A)
12g.101770136C>ACA386302735GNPTABc.1169G>T (p.Ser390Ile)
c.1088G>T (p.Ser363Ile)
c.953G>T (p.Ser318Ile)
c.-59G>T (n.-59G>T)
12g.101770136C>GCA386302733GNPTABc.1169G>C (p.Ser390Thr)
c.1088G>C (p.Ser363Thr)
c.953G>C (p.Ser318Thr)
c.-59G>C (n.-59G>C)
12g.101770136C>TCA386302732GNPTABc.1169G>A (p.Ser390Asn)
c.1088G>A (p.Ser363Asn)
c.953G>A (p.Ser318Asn)
c.-59G>A (n.-59G>A)
12g.101770137T>ACA386302736GNPTABc.1168A>T (p.Ser390Cys)
c.1087A>T (p.Ser363Cys)
c.952A>T (p.Ser318Cys)
c.-60A>T (n.-60A>T)
12g.101770137T>CCA242462336GNPTABc.1168A>G (p.Ser390Gly)
c.1087A>G (p.Ser363Gly)
c.952A>G (p.Ser318Gly)
c.-60A>G (n.-60A>G)
 dbSNP
12g.101770137T>GCA386302738GNPTABc.1168A>C (p.Ser390Arg)
c.1087A>C (p.Ser363Arg)
c.952A>C (p.Ser318Arg)
c.-60A>C (n.-60A>C)
12g.101770137T=CA2058957883GNPTABc.1168A= (p.Ser390=)
c.1087A= (p.Ser363=)
c.952A= (p.Ser318=)
c.-60A= (n.-60A=)
12g.101770138T>ACA386302740GNPTABc.1167A>T (p.Glu389Asp)
c.1086A>T (p.Glu362Asp)
c.951A>T (p.Glu317Asp)
c.-61A>T (n.-61A>T)
12g.101770138T>CCA481577881GNPTABc.1167A>G (p.Glu389=)
c.1086A>G (p.Glu362=)
c.951A>G (p.Glu317=)
c.-61A>G (n.-61A>G)
12g.101770138T>GCA386302742GNPTABc.1167A>C (p.Glu389Asp)
c.1086A>C (p.Glu362Asp)
c.951A>C (p.Glu317Asp)
c.-61A>C (n.-61A>C)
12g.101770139T>ACA386302744GNPTABc.1166A>T (p.Glu389Val)
c.1085A>T (p.Glu362Val)
c.950A>T (p.Glu317Val)
c.-62A>T (n.-62A>T)
12g.101770139T>CCA386302745GNPTABc.1166A>G (p.Glu389Gly)
c.1085A>G (p.Glu362Gly)
c.950A>G (p.Glu317Gly)
c.-62A>G (n.-62A>G)
12g.101770139T>GCA386302746GNPTABc.1166A>C (p.Glu389Ala)
c.1085A>C (p.Glu362Ala)
c.950A>C (p.Glu317Ala)
c.-62A>C (n.-62A>C)
12g.101770140C>ACA386302748GNPTABc.1165G>T (p.Glu389Ter)
c.1084G>T (p.Glu362Ter)
c.949G>T (p.Glu317Ter)
c.-63G>T (n.-63G>T)
12g.101770140C>GCA386302750GNPTABc.1165G>C (p.Glu389Gln)
c.1084G>C (p.Glu362Gln)
c.949G>C (p.Glu317Gln)
c.-63G>C (n.-63G>C)
12g.101770140C>TCA386302751GNPTABc.1165G>A (p.Glu389Lys)
c.1084G>A (p.Glu362Lys)
c.949G>A (p.Glu317Lys)
c.-63G>A (n.-63G>A)
12g.101770141A>CCA386302753GNPTABc.1164T>G (p.Ile388Met)
c.1083T>G (p.Ile361Met)
c.948T>G (p.Ile316Met)
c.-64T>G (n.-64T>G)
12g.101770141A>GCA481577883GNPTABc.1164T>C (p.Ile388=)
c.1083T>C (p.Ile361=)
c.948T>C (p.Ile316=)
c.-64T>C (n.-64T>C)
 ClinVar dbSNP
12g.101770141A>TCA481577882GNPTABc.1164T>A (p.Ile388=)
c.1083T>A (p.Ile361=)
c.948T>A (p.Ile316=)
c.-64T>A (n.-64T>A)
12g.101770142A>CCA386302758GNPTABc.1163T>G (p.Ile388Ser)
c.1082T>G (p.Ile361Ser)
c.947T>G (p.Ile316Ser)
c.-65T>G (n.-65T>G)
12g.101770142A>GCA386302756GNPTABc.1163T>C (p.Ile388Thr)
c.1082T>C (p.Ile361Thr)
c.947T>C (p.Ile316Thr)
c.-65T>C (n.-65T>C)
12g.101770142A>TCA386302755GNPTABc.1163T>A (p.Ile388Asn)
c.1082T>A (p.Ile361Asn)
c.947T>A (p.Ile316Asn)
c.-65T>A (n.-65T>A)
12g.101770143T>ACA386302759GNPTABc.1162A>T (p.Ile388Phe)
c.1081A>T (p.Ile361Phe)
c.946A>T (p.Ile316Phe)
c.-66A>T (n.-66A>T)
12g.101770143T>CCA386302761GNPTABc.1162A>G (p.Ile388Val)
c.1081A>G (p.Ile361Val)
c.946A>G (p.Ile316Val)
c.-66A>G (n.-66A>G)
 dbSNP gnomAD v4
12g.101770143T>GCA386302763GNPTABc.1162A>C (p.Ile388Leu)
c.1081A>C (p.Ile361Leu)
c.946A>C (p.Ile316Leu)
c.-66A>C (n.-66A>C)
12g.101770143T=CA2058957884GNPTABc.1162A= (p.Ile388=)
c.1081A= (p.Ile361=)
c.946A= (p.Ile316=)
c.-66A= (n.-66A=)
12g.101770144A=CA2058957885GNPTABc.1161T= (p.Ala387=)
c.1080T= (p.Ala360=)
c.945T= (p.Ala315=)
c.-67T= (n.-67T=)
12g.101770144A>CCA481577886GNPTABc.1161T>G (p.Ala387=)
c.1080T>G (p.Ala360=)
c.945T>G (p.Ala315=)
c.-67T>G (n.-67T>G)
12g.101770144A>GCA481577884GNPTABc.1161T>C (p.Ala387=)
c.1080T>C (p.Ala360=)
c.945T>C (p.Ala315=)
c.-67T>C (n.-67T>C)
 ClinVar dbSNP
12g.101770144A>TCA481577885GNPTABc.1161T>A (p.Ala387=)
c.1080T>A (p.Ala360=)
c.945T>A (p.Ala315=)
c.-67T>A (n.-67T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101770145G>ACA386302764GNPTABc.1160C>T (p.Ala387Val)
c.1079C>T (p.Ala360Val)
c.944C>T (p.Ala315Val)
c.-68C>T (n.-68C>T)
12g.101770145G>CCA386302765GNPTABc.1160C>G (p.Ala387Gly)
c.1079C>G (p.Ala360Gly)
c.944C>G (p.Ala315Gly)
c.-68C>G (n.-68C>G)
12g.101770145G>TCA386302766GNPTABc.1160C>A (p.Ala387Asp)
c.1079C>A (p.Ala360Asp)
c.944C>A (p.Ala315Asp)
c.-68C>A (n.-68C>A)
12g.101770146C>ACA386302767GNPTABc.1159G>T (p.Ala387Ser)
c.1078G>T (p.Ala360Ser)
c.943G>T (p.Ala315Ser)
c.-69G>T (n.-69G>T)
12g.101770146C>GCA386302768GNPTABc.1159G>C (p.Ala387Pro)
c.1078G>C (p.Ala360Pro)
c.943G>C (p.Ala315Pro)
c.-69G>C (n.-69G>C)
12g.101770146C>TCA386302769GNPTABc.1159G>A (p.Ala387Thr)
c.1078G>A (p.Ala360Thr)
c.943G>A (p.Ala315Thr)
c.-69G>A (n.-69G>A)
12g.101770147A=CA2058957886GNPTABc.1158T= (p.Pro386=)
c.1077T= (p.Pro359=)
c.942T= (p.Pro314=)
c.-70T= (n.-70T=)
12g.101770147A>CCA481577887GNPTABc.1158T>G (p.Pro386=)
c.1077T>G (p.Pro359=)
c.942T>G (p.Pro314=)
c.-70T>G (n.-70T>G)
 COSMIC COSMIC
12g.101770147A>GCA481577889GNPTABc.1158T>C (p.Pro386=)
c.1077T>C (p.Pro359=)
c.942T>C (p.Pro314=)
c.-70T>C (n.-70T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101770147A>TCA481577888GNPTABc.1158T>A (p.Pro386=)
c.1077T>A (p.Pro359=)
c.942T>A (p.Pro314=)
c.-70T>A (n.-70T>A)
12g.101770148G>ACA386302771GNPTABc.1157C>T (p.Pro386Leu)
c.1076C>T (p.Pro359Leu)
c.941C>T (p.Pro314Leu)
c.-71C>T (n.-71C>T)
12g.101770148G>CCA386302772GNPTABc.1157C>G (p.Pro386Arg)
c.1076C>G (p.Pro359Arg)
c.941C>G (p.Pro314Arg)
c.-71C>G (n.-71C>G)
12g.101770148G>TCA386302773GNPTABc.1157C>A (p.Pro386His)
c.1076C>A (p.Pro359His)
c.941C>A (p.Pro314His)
c.-71C>A (n.-71C>A)
12g.101770149G>ACA386302776GNPTABc.1156C>T (p.Pro386Ser)
c.1075C>T (p.Pro359Ser)
c.940C>T (p.Pro314Ser)
c.-72C>T (n.-72C>T)
12g.101770149G>CCA386302775GNPTABc.1156C>G (p.Pro386Ala)
c.1075C>G (p.Pro359Ala)
c.940C>G (p.Pro314Ala)
c.-72C>G (n.-72C>G)
12g.101770149G>TCA386302774GNPTABc.1156C>A (p.Pro386Thr)
c.1075C>A (p.Pro359Thr)
c.940C>A (p.Pro314Thr)
c.-72C>A (n.-72C>A)
12g.101770150T>ACA481577890GNPTABc.1155A>T (p.Ser385=)
c.1074A>T (p.Ser358=)
c.939A>T (p.Ser313=)
c.-73A>T (n.-73A>T)
12g.101770150T>CCA481577891GNPTABc.1155A>G (p.Ser385=)
c.1074A>G (p.Ser358=)
c.939A>G (p.Ser313=)
c.-73A>G (n.-73A>G)
12g.101770150T>GCA6746690GNPTABc.1155A>C (p.Ser385=)
c.1074A>C (p.Ser358=)
c.939A>C (p.Ser313=)
c.-73A>C (n.-73A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770150T=CA2058957887GNPTABc.1155A= (p.Ser385=)
c.1074A= (p.Ser358=)
c.939A= (p.Ser313=)
c.-73A= (n.-73A=)
12g.101770151G>ACA386302778GNPTABc.1154C>T (p.Ser385Leu)
c.1073C>T (p.Ser358Leu)
c.938C>T (p.Ser313Leu)
c.-74C>T (n.-74C>T)
12g.101770151G>CCA386302779GNPTABc.1154C>G (p.Ser385Ter)
c.1073C>G (p.Ser358Ter)
c.938C>G (p.Ser313Ter)
c.-74C>G (n.-74C>G)
 gnomAD v4
12g.101770151G>TCA386302781GNPTABc.1154C>A (p.Ser385Ter)
c.1073C>A (p.Ser358Ter)
c.938C>A (p.Ser313Ter)
c.-74C>A (n.-74C>A)
 ClinVar
12g.101770152A>CCA386302783GNPTABc.1153T>G (p.Ser385Ala)
c.1072T>G (p.Ser358Ala)
c.937T>G (p.Ser313Ala)
c.-75T>G (n.-75T>G)
12g.101770152A>GCA386302784GNPTABc.1153T>C (p.Ser385Pro)
c.1072T>C (p.Ser358Pro)
c.937T>C (p.Ser313Pro)
c.-75T>C (n.-75T>C)
12g.101770152A>TCA386302786GNPTABc.1153T>A (p.Ser385Thr)
c.1072T>A (p.Ser358Thr)
c.937T>A (p.Ser313Thr)
c.-75T>A (n.-75T>A)
12g.101770153A>CCA386302787GNPTABc.1152T>G (p.Ser384Arg)
c.1071T>G (p.Ser357Arg)
c.936T>G (p.Ser312Arg)
c.-76T>G (n.-76T>G)
12g.101770153A>GCA481577892GNPTABc.1152T>C (p.Ser384=)
c.1071T>C (p.Ser357=)
c.936T>C (p.Ser312=)
c.-76T>C (n.-76T>C)
12g.101770153A>TCA386302788GNPTABc.1152T>A (p.Ser384Arg)
c.1071T>A (p.Ser357Arg)
c.936T>A (p.Ser312Arg)
c.-76T>A (n.-76T>A)
12g.101770154delCA2620451599GNPTABc.1151del (p.Ser384IlefsTer22)
c.1070del (p.Ser357IlefsTer22)
c.935del (p.Ser312IlefsTer22)
c.-77del (n.-77del)
 gnomAD v4
12g.101770154C>ACA386302789GNPTABc.1151G>T (p.Ser384Ile)
c.1070G>T (p.Ser357Ile)
c.935G>T (p.Ser312Ile)
c.-77G>T (n.-77G>T)
12g.101770154C=CA2058957888GNPTABc.1151G= (p.Ser384=)
c.1070G= (p.Ser357=)
c.935G= (p.Ser312=)
c.-77G= (n.-77G=)
12g.101770154C>GCA386302791GNPTABc.1151G>C (p.Ser384Thr)
c.1070G>C (p.Ser357Thr)
c.935G>C (p.Ser312Thr)
c.-77G>C (n.-77G>C)
12g.101770154C>TCA386302792GNPTABc.1151G>A (p.Ser384Asn)
c.1070G>A (p.Ser357Asn)
c.935G>A (p.Ser312Asn)
c.-77G>A (n.-77G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101770155T>ACA386302797GNPTABc.1150A>T (p.Ser384Cys)
c.1069A>T (p.Ser357Cys)
c.934A>T (p.Ser312Cys)
c.-78A>T (n.-78A>T)
12g.101770155T>CCA386302795GNPTABc.1150A>G (p.Ser384Gly)
c.1069A>G (p.Ser357Gly)
c.934A>G (p.Ser312Gly)
c.-78A>G (n.-78A>G)
 gnomAD v4
12g.101770155T>GCA386302794GNPTABc.1150A>C (p.Ser384Arg)
c.1069A>C (p.Ser357Arg)
c.934A>C (p.Ser312Arg)
c.-78A>C (n.-78A>C)
12g.101770155_101770157dupCA2695217211GNPTABc.1148_1150dup (p.Phe383_Ser384insIle)
c.1067_1069dup (p.Phe356_Ser357insIle)
c.932_934dup (p.Phe311_Ser312insIle)
c.-80_-78dup (n.-80_-78dup)
12g.101770155_101770158dupCA2620451609GNPTABc.1147_1150dup (p.Ser384IlefsTer2)
c.1066_1069dup (p.Ser357IlefsTer2)
c.931_934dup (p.Ser312IlefsTer2)
c.-81_-78dup (n.-81_-78dup)
 gnomAD v4
12g.101770156A>CCA386302798GNPTABc.1149T>G (p.Phe383Leu)
c.1068T>G (p.Phe356Leu)
c.933T>G (p.Phe311Leu)
c.-79T>G (n.-79T>G)
12g.101770156A>GCA481577893GNPTABc.1149T>C (p.Phe383=)
c.1068T>C (p.Phe356=)
c.933T>C (p.Phe311=)
c.-79T>C (n.-79T>C)
 ClinVar
12g.101770156A>TCA386302800GNPTABc.1149T>A (p.Phe383Leu)
c.1068T>A (p.Phe356Leu)
c.933T>A (p.Phe311Leu)
c.-79T>A (n.-79T>A)
12g.101770157A>CCA386302801GNPTABc.1148T>G (p.Phe383Cys)
c.1067T>G (p.Phe356Cys)
c.932T>G (p.Phe311Cys)
c.-80T>G (n.-80T>G)
12g.101770157A>GCA386302802GNPTABc.1148T>C (p.Phe383Ser)
c.1067T>C (p.Phe356Ser)
c.932T>C (p.Phe311Ser)
c.-80T>C (n.-80T>C)
12g.101770157A>TCA386302804GNPTABc.1148T>A (p.Phe383Tyr)
c.1067T>A (p.Phe356Tyr)
c.932T>A (p.Phe311Tyr)
c.-80T>A (n.-80T>A)
12g.101770158A>CCA386302805GNPTABc.1147T>G (p.Phe383Val)
c.1066T>G (p.Phe356Val)
c.931T>G (p.Phe311Val)
c.-81T>G (n.-81T>G)
 gnomAD v4
12g.101770158A>GCA386302807GNPTABc.1147T>C (p.Phe383Leu)
c.1066T>C (p.Phe356Leu)
c.931T>C (p.Phe311Leu)
c.-81T>C (n.-81T>C)
12g.101770158A>TCA386302809GNPTABc.1147T>A (p.Phe383Ile)
c.1066T>A (p.Phe356Ile)
c.931T>A (p.Phe311Ile)
c.-81T>A (n.-81T>A)
12g.101770159G>ACA6746691GNPTABc.1146C>T (p.Thr382=)
c.1065C>T (p.Thr355=)
c.930C>T (p.Thr310=)
c.-82C>T (n.-82C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770159G>CCA481577894GNPTABc.1146C>G (p.Thr382=)
c.1065C>G (p.Thr355=)
c.930C>G (p.Thr310=)
c.-82C>G (n.-82C>G)
 gnomAD v4
12g.101770159G=CA2058957889GNPTABc.1146C= (p.Thr382=)
c.1065C= (p.Thr355=)
c.930C= (p.Thr310=)
c.-82C= (n.-82C=)
12g.101770159G>TCA481577895GNPTABc.1146C>A (p.Thr382=)
c.1065C>A (p.Thr355=)
c.930C>A (p.Thr310=)
c.-82C>A (n.-82C>A)
12g.101770160G>ACA242462356GNPTABc.1145C>T (p.Thr382Ile)
c.1064C>T (p.Thr355Ile)
c.929C>T (p.Thr310Ile)
c.-83C>T (n.-83C>T)
 dbSNP
12g.101770160G>CCA386302811GNPTABc.1145C>G (p.Thr382Ser)
c.1064C>G (p.Thr355Ser)
c.929C>G (p.Thr310Ser)
c.-83C>G (n.-83C>G)
12g.101770160G=CA2058957890GNPTABc.1145C= (p.Thr382=)
c.1064C= (p.Thr355=)
c.929C= (p.Thr310=)
c.-83C= (n.-83C=)
12g.101770160G>TCA386302813GNPTABc.1145C>A (p.Thr382Asn)
c.1064C>A (p.Thr355Asn)
c.929C>A (p.Thr310Asn)
c.-83C>A (n.-83C>A)
12g.101770161T>ACA386302814GNPTABc.1144A>T (p.Thr382Ser)
c.1063A>T (p.Thr355Ser)
c.928A>T (p.Thr310Ser)
c.-84A>T (n.-84A>T)
12g.101770161T>CCA6746692GNPTABc.1144A>G (p.Thr382Ala)
c.1063A>G (p.Thr355Ala)
c.928A>G (p.Thr310Ala)
c.-84A>G (n.-84A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770161T>GCA239360GNPTABc.1144A>C (p.Thr382Pro)
c.1063A>C (p.Thr355Pro)
c.928A>C (p.Thr310Pro)
c.-84A>C (n.-84A>C)
 ClinVar dbSNP
12g.101770161T=CA2058957891GNPTABc.1144A= (p.Thr382=)
c.1063A= (p.Thr355=)
c.928A= (p.Thr310=)
c.-84A= (n.-84A=)
12g.101770162A>CCA481577896GNPTABc.1143T>G (p.Pro381=)
c.1062T>G (p.Pro354=)
c.927T>G (p.Pro309=)
c.-85T>G (n.-85T>G)
12g.101770162A>GCA481577898GNPTABc.1143T>C (p.Pro381=)
c.1062T>C (p.Pro354=)
c.927T>C (p.Pro309=)
c.-85T>C (n.-85T>C)
12g.101770162A>TCA481577897GNPTABc.1143T>A (p.Pro381=)
c.1062T>A (p.Pro354=)
c.927T>A (p.Pro309=)
c.-85T>A (n.-85T>A)
12g.101770163G>ACA386302816GNPTABc.1142C>T (p.Pro381Leu)
c.1061C>T (p.Pro354Leu)
c.926C>T (p.Pro309Leu)
c.-86C>T (n.-86C>T)
12g.101770163G>CCA386302819GNPTABc.1142C>G (p.Pro381Arg)
c.1061C>G (p.Pro354Arg)
c.926C>G (p.Pro309Arg)
c.-86C>G (n.-86C>G)
12g.101770163G>TCA386302818GNPTABc.1142C>A (p.Pro381His)
c.1061C>A (p.Pro354His)
c.926C>A (p.Pro309His)
c.-86C>A (n.-86C>A)

Number of alleles fetched