Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204155080A=CA2482055222RENc.1157T= (p.Ile386=)
c.1043T= (p.Ile348=)
1g.204155080A>CCA344332268RENc.1157T>G (p.Ile386Ser)
c.1043T>G (p.Ile348Ser)
1g.204155080A>GCA1344643RENc.1157T>C (p.Ile386Thr)
c.1043T>C (p.Ile348Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155080A>TCA344332269RENc.1157T>A (p.Ile386Asn)
c.1043T>A (p.Ile348Asn)
1g.204155081T>ACA344332270RENc.1156A>T (p.Ile386Phe)
c.1042A>T (p.Ile348Phe)
1g.204155081T>CCA35732289RENc.1156A>G (p.Ile386Val)
c.1042A>G (p.Ile348Val)
 dbSNP
1g.204155081T>GCA344332271RENc.1156A>C (p.Ile386Leu)
c.1042A>C (p.Ile348Leu)
1g.204155081T=CA2482055224RENc.1156A= (p.Ile386=)
c.1042A= (p.Ile348=)
1g.204155082G>ACA422833151RENc.1155C>T (p.Phe385=)
c.1041C>T (p.Phe347=)
1g.204155082G>CCA344332272RENc.1155C>G (p.Phe385Leu)
c.1041C>G (p.Phe347Leu)
1g.204155082G>TCA344332273RENc.1155C>A (p.Phe385Leu)
c.1041C>A (p.Phe347Leu)
1g.204155083A>CCA344332274RENc.1154T>G (p.Phe385Cys)
c.1040T>G (p.Phe347Cys)
1g.204155083A>GCA344332275RENc.1154T>C (p.Phe385Ser)
c.1040T>C (p.Phe347Ser)
1g.204155083A>TCA344332276RENc.1154T>A (p.Phe385Tyr)
c.1040T>A (p.Phe347Tyr)
1g.204155084A>CCA344332277RENc.1153T>G (p.Phe385Val)
c.1039T>G (p.Phe347Val)
1g.204155084A>GCA344332278RENc.1153T>C (p.Phe385Leu)
c.1039T>C (p.Phe347Leu)
1g.204155084A>TCA344332279RENc.1153T>A (p.Phe385Ile)
c.1039T>A (p.Phe347Ile)
 COSMIC
1g.204155085G>ACA422833153RENc.1152C>T (p.Thr384=)
c.1038C>T (p.Thr346=)
1g.204155085G>CCA422833156RENc.1152C>G (p.Thr384=)
c.1038C>G (p.Thr346=)
1g.204155085G>TCA422833155RENc.1152C>A (p.Thr384=)
c.1038C>A (p.Thr346=)
1g.204155086G>ACA344332281RENc.1151C>T (p.Thr384Ile)
c.1037C>T (p.Thr346Ile)
1g.204155086G>CCA344332280RENc.1151C>G (p.Thr384Ser)
c.1037C>G (p.Thr346Ser)
1g.204155086G=CA2482055228RENc.1151C= (p.Thr384=)
c.1037C= (p.Thr346=)
1g.204155086G>TCA1344644RENc.1151C>A (p.Thr384Asn)
c.1037C>A (p.Thr346Asn)
 ClinVar dbSNP ExAC gnomAD v2
1g.204155087T>ACA344332282RENc.1150A>T (p.Thr384Ser)
c.1036A>T (p.Thr346Ser)
1g.204155087T>CCA1344645RENc.1150A>G (p.Thr384Ala)
c.1036A>G (p.Thr346Ala)
 dbSNP ExAC gnomAD v4
1g.204155087T>GCA344332283RENc.1150A>C (p.Thr384Pro)
c.1036A>C (p.Thr346Pro)
1g.204155087T=CA2482055234RENc.1150A= (p.Thr384=)
c.1036A= (p.Thr346=)
1g.204155088G>ACA422833160RENc.1149C>T (p.Ala383=)
c.1035C>T (p.Ala345=)
1g.204155088G>CCA422833161RENc.1149C>G (p.Ala383=)
c.1035C>G (p.Ala345=)
1g.204155088G>TCA422833163RENc.1149C>A (p.Ala383=)
c.1035C>A (p.Ala345=)
1g.204155089G>ACA344332284RENc.1148C>T (p.Ala383Val)
c.1034C>T (p.Ala345Val)
1g.204155089G>CCA344332285RENc.1148C>G (p.Ala383Gly)
c.1034C>G (p.Ala345Gly)
1g.204155089G>TCA344332286RENc.1148C>A (p.Ala383Asp)
c.1034C>A (p.Ala345Asp)
1g.204155090C>ACA344332287RENc.1147G>T (p.Ala383Ser)
c.1033G>T (p.Ala345Ser)
 dbSNP
1g.204155090C=CA2482055238RENc.1147G= (p.Ala383=)
c.1033G= (p.Ala345=)
1g.204155090C>GCA344332288RENc.1147G>C (p.Ala383Pro)
c.1033G>C (p.Ala345Pro)
1g.204155090C>TCA344332289RENc.1147G>A (p.Ala383Thr)
c.1033G>A (p.Ala345Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155094dupCA2747425806RENc.1147dup (p.Ala383GlyfsTer12)
c.1033dup (p.Ala345GlyfsTer12)
1g.204155094delCA2650012259RENc.1147del (p.Ala383ProfsTer?)
c.1033del (p.Ala345ProfsTer?)
 gnomAD v4
1g.204155091C>ACA422833167RENc.1146G>T (p.Gly382=)
c.1032G>T (p.Gly344=)
1g.204155091C>GCA422833168RENc.1146G>C (p.Gly382=)
c.1032G>C (p.Gly344=)
1g.204155091C>TCA422833169RENc.1146G>A (p.Gly382=)
c.1032G>A (p.Gly344=)
1g.204155092C>ACA344332290RENc.1145G>T (p.Gly382Val)
c.1031G>T (p.Gly344Val)
1g.204155092C>GCA344332291RENc.1145G>C (p.Gly382Ala)
c.1031G>C (p.Gly344Ala)
1g.204155092C>TCA344332292RENc.1145G>A (p.Gly382Glu)
c.1031G>A (p.Gly344Glu)
1g.204155093C>ACA344332294RENc.1144G>T (p.Gly382Trp)
c.1030G>T (p.Gly344Trp)
1g.204155093C>GCA344332295RENc.1144G>C (p.Gly382Arg)
c.1030G>C (p.Gly344Arg)
1g.204155093C>TCA344332293RENc.1144G>A (p.Gly382Arg)
c.1030G>A (p.Gly344Arg)
 gnomAD v4
1g.204155094C>ACA422833172RENc.1143G>T (p.Leu381=)
c.1029G>T (p.Leu343=)
1g.204155094C=CA2482055242RENc.1143G= (p.Leu381=)
c.1029G= (p.Leu343=)
1g.204155094C>GCA422833174RENc.1143G>C (p.Leu381=)
c.1029G>C (p.Leu343=)
1g.204155094C>TCA422833175RENc.1143G>A (p.Leu381=)
c.1029G>A (p.Leu343=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155095A>CCA344332296RENc.1142T>G (p.Leu381Arg)
c.1028T>G (p.Leu343Arg)
1g.204155095A>GCA344332297RENc.1142T>C (p.Leu381Pro)
c.1028T>C (p.Leu343Pro)
1g.204155095A>TCA344332298RENc.1142T>A (p.Leu381Gln)
c.1028T>A (p.Leu343Gln)
1g.204155096G>ACA422833176RENc.1141C>T (p.Leu381=)
c.1027C>T (p.Leu343=)
1g.204155096G>CCA344332299RENc.1141C>G (p.Leu381Val)
c.1027C>G (p.Leu343Val)
1g.204155096G>TCA344332300RENc.1141C>A (p.Leu381Met)
c.1027C>A (p.Leu343Met)
 COSMIC
1g.204155097G>ACA422833177RENc.1140C>T (p.Ala380=)
c.1026C>T (p.Ala342=)
1g.204155097G>CCA422833179RENc.1140C>G (p.Ala380=)
c.1026C>G (p.Ala342=)
1g.204155097G>TCA422833180RENc.1140C>A (p.Ala380=)
c.1026C>A (p.Ala342=)
 gnomAD v4
1g.204155098G>ACA344332303RENc.1139C>T (p.Ala380Val)
c.1025C>T (p.Ala342Val)
1g.204155098G>CCA344332302RENc.1139C>G (p.Ala380Gly)
c.1025C>G (p.Ala342Gly)
1g.204155098G>TCA344332301RENc.1139C>A (p.Ala380Asp)
c.1025C>A (p.Ala342Asp)
1g.204155099C>ACA344332304RENc.1138G>T (p.Ala380Ser)
c.1024G>T (p.Ala342Ser)
1g.204155099C=CA2482055244RENc.1138G= (p.Ala380=)
c.1024G= (p.Ala342=)
1g.204155099C>GCA344332305RENc.1138G>C (p.Ala380Pro)
c.1024G>C (p.Ala342Pro)
1g.204155099C>TCA344332306RENc.1138G>A (p.Ala380Thr)
c.1024G>A (p.Ala342Thr)
 dbSNP
1g.204155100C>ACA344332307RENc.1137G>T (p.Trp379Cys)
c.1023G>T (p.Trp341Cys)
1g.204155100C>GCA344332308RENc.1137G>C (p.Trp379Cys)
c.1023G>C (p.Trp341Cys)
1g.204155100C>TCA344332309RENc.1137G>A (p.Trp379Ter)
c.1023G>A (p.Trp341Ter)
1g.204155101C>ACA344332310RENc.1136G>T (p.Trp379Leu)
c.1022G>T (p.Trp341Leu)
1g.204155101C>GCA344332312RENc.1136G>C (p.Trp379Ser)
c.1022G>C (p.Trp341Ser)
1g.204155101C>TCA344332311RENc.1136G>A (p.Trp379Ter)
c.1022G>A (p.Trp341Ter)
 gnomAD v4
1g.204155102A>CCA344332313RENc.1135T>G (p.Trp379Gly)
c.1021T>G (p.Trp341Gly)
1g.204155102A>GCA344332314RENc.1135T>C (p.Trp379Arg)
c.1021T>C (p.Trp341Arg)
1g.204155102A>TCA344332315RENc.1135T>A (p.Trp379Arg)
c.1021T>A (p.Trp341Arg)
1g.204155103G>ACA422833187RENc.1134C>T (p.Thr378=)
c.1020C>T (p.Thr340=)
1g.204155103G>CCA422833188RENc.1134C>G (p.Thr378=)
c.1020C>G (p.Thr340=)
1g.204155103G>TCA422833189RENc.1134C>A (p.Thr378=)
c.1020C>A (p.Thr340=)
1g.204155103_204155111dupCA2650012269RENc.1126_1134dup (p.Thr378_Trp379insGlyProThr)
c.1012_1020dup (p.Thr340_Trp341insGlyProThr)
 gnomAD v4
1g.204155104G>ACA344332316RENc.1133C>T (p.Thr378Ile)
c.1019C>T (p.Thr340Ile)
 gnomAD v4
1g.204155104G>CCA344332317RENc.1133C>G (p.Thr378Ser)
c.1019C>G (p.Thr340Ser)
1g.204155104G>TCA344332318RENc.1133C>A (p.Thr378Asn)
c.1019C>A (p.Thr340Asn)
1g.204155105T>ACA344332319RENc.1132A>T (p.Thr378Ser)
c.1018A>T (p.Thr340Ser)
1g.204155105T>CCA344332320RENc.1132A>G (p.Thr378Ala)
c.1018A>G (p.Thr340Ala)
1g.204155105T>GCA344332321RENc.1132A>C (p.Thr378Pro)
c.1018A>C (p.Thr340Pro)
1g.204155106G>ACA422833193RENc.1131C>T (p.Pro377=)
c.1017C>T (p.Pro339=)
1g.204155106G>CCA422833194RENc.1131C>G (p.Pro377=)
c.1017C>G (p.Pro339=)
1g.204155106G>TCA422833195RENc.1131C>A (p.Pro377=)
c.1017C>A (p.Pro339=)
1g.204155107G>ACA344332322RENc.1130C>T (p.Pro377Leu)
c.1016C>T (p.Pro339Leu)
1g.204155107G>CCA344332323RENc.1130C>G (p.Pro377Arg)
c.1016C>G (p.Pro339Arg)
1g.204155107G>TCA344332324RENc.1130C>A (p.Pro377His)
c.1016C>A (p.Pro339His)
1g.204155108G>ACA344332327RENc.1129C>T (p.Pro377Ser)
c.1015C>T (p.Pro339Ser)
1g.204155108G>CCA344332326RENc.1129C>G (p.Pro377Ala)
c.1015C>G (p.Pro339Ala)
1g.204155108G>TCA344332325RENc.1129C>A (p.Pro377Thr)
c.1015C>A (p.Pro339Thr)
1g.204155109T>ACA422833200RENc.1128A>T (p.Gly376=)
c.1014A>T (p.Gly338=)
1g.204155109T>CCA422833201RENc.1128A>G (p.Gly376=)
c.1014A>G (p.Gly338=)
 dbSNP gnomAD v2 gnomAD v4
1g.204155109T>GCA422833202RENc.1128A>C (p.Gly376=)
c.1014A>C (p.Gly338=)
1g.204155109T=CA2482055246RENc.1128A= (p.Gly376=)
c.1014A= (p.Gly338=)
1g.204155110C>ACA344332328RENc.1127G>T (p.Gly376Val)
c.1013G>T (p.Gly338Val)
1g.204155110C>GCA344332330RENc.1127G>C (p.Gly376Ala)
c.1013G>C (p.Gly338Ala)
1g.204155110C>TCA344332329RENc.1127G>A (p.Gly376Glu)
c.1013G>A (p.Gly338Glu)
1g.204155111C>ACA344332331RENc.1126G>T (p.Gly376Ter)
c.1012G>T (p.Gly338Ter)
1g.204155111C>GCA344332333RENc.1126G>C (p.Gly376Arg)
c.1012G>C (p.Gly338Arg)
1g.204155111C>TCA344332332RENc.1126G>A (p.Gly376Arg)
c.1012G>A (p.Gly338Arg)
 COSMIC
1g.204155112A=CA2482055249RENc.1125T= (p.Thr375=)
c.1011T= (p.Thr337=)
1g.204155112A>CCA1344646RENc.1125T>G (p.Thr375=)
c.1011T>G (p.Thr337=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155112A>GCA422833205RENc.1125T>C (p.Thr375=)
c.1011T>C (p.Thr337=)
 gnomAD v4
1g.204155112A>TCA422833206RENc.1125T>A (p.Thr375=)
c.1011T>A (p.Thr337=)
1g.204155113G>ACA344332336RENc.1124C>T (p.Thr375Ile)
c.1010C>T (p.Thr337Ile)
1g.204155113G>CCA344332335RENc.1124C>G (p.Thr375Ser)
c.1010C>G (p.Thr337Ser)
1g.204155113G=CA1143608725RENc.1124C= (p.Thr375=)
c.1010C= (p.Thr337=)
1g.204155113G>TCA1344647RENc.1124C>A (p.Thr375Asn)
c.1010C>A (p.Thr337Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155114T>ACA344332337RENc.1123A>T (p.Thr375Ser)
c.1009A>T (p.Thr337Ser)
1g.204155114T>CCA344332338RENc.1123A>G (p.Thr375Ala)
c.1009A>G (p.Thr337Ala)
 gnomAD v4
1g.204155114T>GCA344332339RENc.1123A>C (p.Thr375Pro)
c.1009A>C (p.Thr337Pro)
1g.204155115G>ACA422833211RENc.1122C>T (p.Pro374=)
c.1008C>T (p.Pro336=)
1g.204155115G>CCA422833209RENc.1122C>G (p.Pro374=)
c.1008C>G (p.Pro336=)
1g.204155115G>TCA422833208RENc.1122C>A (p.Pro374=)
c.1008C>A (p.Pro336=)
1g.204155116G>ACA344332342RENc.1121C>T (p.Pro374Leu)
c.1007C>T (p.Pro336Leu)
1g.204155116G>CCA344332341RENc.1121C>G (p.Pro374Arg)
c.1007C>G (p.Pro336Arg)
1g.204155116G>TCA344332340RENc.1121C>A (p.Pro374His)
c.1007C>A (p.Pro336His)
 gnomAD v4
1g.204155117G>ACA344332343RENc.1120C>T (p.Pro374Ser)
c.1006C>T (p.Pro336Ser)
 gnomAD v4
1g.204155117G>CCA344332344RENc.1120C>G (p.Pro374Ala)
c.1006C>G (p.Pro336Ala)
1g.204155117G>TCA344332345RENc.1120C>A (p.Pro374Thr)
c.1006C>A (p.Pro336Thr)
1g.204155118T>ACA422833213RENc.1119A>T (p.Pro373=)
c.1005A>T (p.Pro335=)
1g.204155118T>CCA422833214RENc.1119A>G (p.Pro373=)
c.1005A>G (p.Pro335=)
1g.204155118T>GCA422833215RENc.1119A>C (p.Pro373=)
c.1005A>C (p.Pro335=)
1g.204155119G>ACA1344648RENc.1118C>T (p.Pro373Leu)
c.1004C>T (p.Pro335Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155119G>CCA344332346RENc.1118C>G (p.Pro373Arg)
c.1004C>G (p.Pro335Arg)
1g.204155119G=CA1144430827RENc.1118C= (p.Pro373=)
c.1004C= (p.Pro335=)
1g.204155119G>TCA344332347RENc.1118C>A (p.Pro373Gln)
c.1004C>A (p.Pro335Gln)
1g.204155120G>ACA344332350RENc.1117C>T (p.Pro373Ser)
c.1003C>T (p.Pro335Ser)
 dbSNP gnomAD v4
1g.204155120G>CCA344332348RENc.1117C>G (p.Pro373Ala)
c.1003C>G (p.Pro335Ala)
1g.204155120G=CA2482055252RENc.1117C= (p.Pro373=)
c.1003C= (p.Pro335=)
1g.204155120G>TCA344332349RENc.1117C>A (p.Pro373Thr)
c.1003C>A (p.Pro335Thr)
1g.204155121C>ACA422833219RENc.1116G>T (p.Pro372=)
c.1002G>T (p.Pro334=)
1g.204155121C=CA1141897714RENc.1116G= (p.Pro372=)
c.1002G= (p.Pro334=)
1g.204155121C>GCA422833222RENc.1116G>C (p.Pro372=)
c.1002G>C (p.Pro334=)
1g.204155121C>TCA1344649RENc.1116G>A (p.Pro372=)
c.1002G>A (p.Pro334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155122G>ACA1344650RENc.1115C>T (p.Pro372Leu)
c.1001C>T (p.Pro334Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155122G>CCA344332351RENc.1115C>G (p.Pro372Arg)
c.1001C>G (p.Pro334Arg)
1g.204155122G=CA2482055257RENc.1115C= (p.Pro372=)
c.1001C= (p.Pro334=)
1g.204155122G>TCA344332352RENc.1115C>A (p.Pro372Gln)
c.1001C>A (p.Pro334Gln)
1g.204155123G>ACA344332353RENc.1114C>T (p.Pro372Ser)
c.1000C>T (p.Pro334Ser)
1g.204155123G>CCA344332354RENc.1114C>G (p.Pro372Ala)
c.1000C>G (p.Pro334Ala)
1g.204155123G>TCA344332355RENc.1114C>A (p.Pro372Thr)
c.1000C>A (p.Pro334Thr)
1g.204155124G>ACA1344651RENc.1113C>T (p.Ile371=)
c.999C>T (p.Ile333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155124G>CCA344332356RENc.1113C>G (p.Ile371Met)
c.999C>G (p.Ile333Met)
1g.204155124G=CA1148244582RENc.1113C= (p.Ile371=)
c.999C= (p.Ile333=)
1g.204155124G>TCA422833230RENc.1113C>A (p.Ile371=)
c.999C>A (p.Ile333=)
1g.204155125A>CCA344332357RENc.1112T>G (p.Ile371Ser)
c.998T>G (p.Ile333Ser)
1g.204155125A>GCA344332358RENc.1112T>C (p.Ile371Thr)
c.998T>C (p.Ile333Thr)
1g.204155125A>TCA344332359RENc.1112T>A (p.Ile371Asn)
c.998T>A (p.Ile333Asn)
1g.204155126T>ACA344332360RENc.1111A>T (p.Ile371Phe)
c.997A>T (p.Ile333Phe)
1g.204155126T>CCA344332362RENc.1111A>G (p.Ile371Val)
c.997A>G (p.Ile333Val)
1g.204155126T>GCA344332361RENc.1111A>C (p.Ile371Leu)
c.997A>C (p.Ile333Leu)
1g.204155127A>CCA344332363RENc.1110T>G (p.Asp370Glu)
c.996T>G (p.Asp332Glu)
1g.204155127A>GCA422833235RENc.1110T>C (p.Asp370=)
c.996T>C (p.Asp332=)
1g.204155127A>TCA344332364RENc.1110T>A (p.Asp370Glu)
c.996T>A (p.Asp332Glu)
1g.204155128T>ACA344332365RENc.1109A>T (p.Asp370Val)
c.995A>T (p.Asp332Val)
1g.204155128T>CCA344332366RENc.1109A>G (p.Asp370Gly)
c.995A>G (p.Asp332Gly)
1g.204155128T>GCA344332367RENc.1109A>C (p.Asp370Ala)
c.995A>C (p.Asp332Ala)
1g.204155129C>ACA344332368RENc.1108G>T (p.Asp370Tyr)
c.994G>T (p.Asp332Tyr)
1g.204155129C>GCA344332369RENc.1108G>C (p.Asp370His)
c.994G>C (p.Asp332His)
1g.204155129C>TCA344332370RENc.1108G>A (p.Asp370Asn)
c.994G>A (p.Asp332Asn)
1g.204155130C>ACA344332371RENc.1107G>T (p.Met369Ile)
c.993G>T (p.Met331Ile)
1g.204155130C>GCA344332372RENc.1107G>C (p.Met369Ile)
c.993G>C (p.Met331Ile)
1g.204155130C>TCA344332373RENc.1107G>A (p.Met369Ile)
c.993G>A (p.Met331Ile)
1g.204155131A>CCA344332376RENc.1106T>G (p.Met369Arg)
c.992T>G (p.Met331Arg)
1g.204155131A>GCA344332375RENc.1106T>C (p.Met369Thr)
c.992T>C (p.Met331Thr)
1g.204155131A>TCA344332374RENc.1106T>A (p.Met369Lys)
c.992T>A (p.Met331Lys)
1g.204155132T>ACA344332377RENc.1105A>T (p.Met369Leu)
c.991A>T (p.Met331Leu)
1g.204155132T>CCA344332378RENc.1105A>G (p.Met369Val)
c.991A>G (p.Met331Val)
 gnomAD v4
1g.204155132T>GCA344332379RENc.1105A>C (p.Met369Leu)
c.991A>C (p.Met331Leu)
1g.204155133G>ACA422833242RENc.1104C>T (p.Ala368=)
c.990C>T (p.Ala330=)
 dbSNP gnomAD v4
1g.204155133G>CCA422833243RENc.1104C>G (p.Ala368=)
c.990C>G (p.Ala330=)
1g.204155133G=CA2482055259RENc.1104C= (p.Ala368=)
c.990C= (p.Ala330=)
1g.204155133G>TCA422833244RENc.1104C>A (p.Ala368=)
c.990C>A (p.Ala330=)
1g.204155134G>ACA344332380RENc.1103C>T (p.Ala368Val)
c.989C>T (p.Ala330Val)
1g.204155134G>CCA344332381RENc.1103C>G (p.Ala368Gly)
c.989C>G (p.Ala330Gly)
1g.204155134G>TCA344332382RENc.1103C>A (p.Ala368Asp)
c.989C>A (p.Ala330Asp)
1g.204155135C>ACA344332383RENc.1102G>T (p.Ala368Ser)
c.988G>T (p.Ala330Ser)
 gnomAD v4
1g.204155135C=CA2482055264RENc.1102G= (p.Ala368=)
c.988G= (p.Ala330=)
1g.204155135C>GCA1344653RENc.1102G>C (p.Ala368Pro)
c.988G>C (p.Ala330Pro)
 dbSNP ExAC gnomAD v2
1g.204155135C>TCA1344652RENc.1102G>A (p.Ala368Thr)
c.988G>A (p.Ala330Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204155136G>ACA1344654RENc.1101C>T (p.His367=)
c.987C>T (p.His329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204155136G>CCA344332384RENc.1101C>G (p.His367Gln)
c.987C>G (p.His329Gln)
1g.204155136G=CA1143885352RENc.1101C= (p.His367=)
c.987C= (p.His329=)
1g.204155136G>TCA344332386RENc.1101C>A (p.His367Gln)
c.987C>A (p.His329Gln)
 gnomAD v4
1g.204155137T>ACA344332393RENc.1100A>T (p.His367Leu)
c.986A>T (p.His329Leu)
1g.204155137T>CCA344332391RENc.1100A>G (p.His367Arg)
c.986A>G (p.His329Arg)
1g.204155137T>GCA344332388RENc.1100A>C (p.His367Pro)
c.986A>C (p.His329Pro)
1g.204155138G>ACA344332395RENc.1099C>T (p.His367Tyr)
c.985C>T (p.His329Tyr)
1g.204155138G>CCA344332396RENc.1099C>G (p.His367Asp)
c.985C>G (p.His329Asp)
1g.204155138G>TCA344332397RENc.1099C>A (p.His367Asn)
c.985C>A (p.His329Asn)
1g.204155139G>ACA422833254RENc.1098C>T (p.Ile366=)
c.984C>T (p.Ile328=)
1g.204155139G>CCA344332398RENc.1098C>G (p.Ile366Met)
c.984C>G (p.Ile328Met)
1g.204155139G>TCA422833251RENc.1098C>A (p.Ile366=)
c.984C>A (p.Ile328=)
 gnomAD v4
1g.204155140A=CA2482055268RENc.1097T= (p.Ile366=)
c.983T= (p.Ile328=)
1g.204155140A>CCA344332399RENc.1097T>G (p.Ile366Ser)
c.983T>G (p.Ile328Ser)
1g.204155140A>GCA344332400RENc.1097T>C (p.Ile366Thr)
c.983T>C (p.Ile328Thr)
 dbSNP
1g.204155140A>TCA344332401RENc.1097T>A (p.Ile366Asn)
c.983T>A (p.Ile328Asn)
1g.204155141T>ACA344332402RENc.1096A>T (p.Ile366Phe)
c.982A>T (p.Ile328Phe)
 dbSNP gnomAD v2
1g.204155141T>CCA344332403RENc.1096A>G (p.Ile366Val)
c.982A>G (p.Ile328Val)
 gnomAD v4
1g.204155141T>GCA344332404RENc.1096A>C (p.Ile366Leu)
c.982A>C (p.Ile328Leu)
1g.204155141T=CA2482055271RENc.1096A= (p.Ile366=)
c.982A= (p.Ile328=)
1g.204155142G>ACA422833258RENc.1095C>T (p.Ala365=)
c.981C>T (p.Ala327=)
1g.204155142G>CCA422833261RENc.1095C>G (p.Ala365=)
c.981C>G (p.Ala327=)
 gnomAD v4
1g.204155142G>TCA422833259RENc.1095C>A (p.Ala365=)
c.981C>A (p.Ala327=)
1g.204155143G>ACA344332405RENc.1094C>T (p.Ala365Val)
c.980C>T (p.Ala327Val)
 dbSNP COSMIC
1g.204155143G>CCA344332406RENc.1094C>G (p.Ala365Gly)
c.980C>G (p.Ala327Gly)
1g.204155143G=CA2482055273RENc.1094C= (p.Ala365=)
c.980C= (p.Ala327=)
1g.204155143G>TCA344332407RENc.1094C>A (p.Ala365Asp)
c.980C>A (p.Ala327Asp)
 gnomAD v4
1g.204155144C>ACA344332410RENc.1093G>T (p.Ala365Ser)
c.979G>T (p.Ala327Ser)
1g.204155144C>GCA344332409RENc.1093G>C (p.Ala365Pro)
c.979G>C (p.Ala327Pro)
1g.204155144C>TCA344332408RENc.1093G>A (p.Ala365Thr)
c.979G>A (p.Ala327Thr)
1g.204155145C>ACA422833263RENc.1092G>T (p.Leu364=)
c.978G>T (p.Leu326=)
1g.204155145C>GCA422833266RENc.1092G>C (p.Leu364=)
c.978G>C (p.Leu326=)
1g.204155145C>TCA422833267RENc.1092G>A (p.Leu364=)
c.978G>A (p.Leu326=)
1g.204155146A=CA2482055275RENc.1091T= (p.Leu364=)
c.977T= (p.Leu326=)
1g.204155146A>CCA344332411RENc.1091T>G (p.Leu364Arg)
c.977T>G (p.Leu326Arg)
1g.204155146A>GCA1344655RENc.1091T>C (p.Leu364Pro)
c.977T>C (p.Leu326Pro)
 dbSNP ExAC gnomAD v2
1g.204155146A>TCA344332412RENc.1091T>A (p.Leu364Gln)
c.977T>A (p.Leu326Gln)
1g.204155147G>ACA422833272RENc.1090C>T (p.Leu364=)
c.976C>T (p.Leu326=)
1g.204155147G>CCA344332413RENc.1090C>G (p.Leu364Val)
c.976C>G (p.Leu326Val)
1g.204155147G>TCA344332414RENc.1090C>A (p.Leu364Met)
c.976C>A (p.Leu326Met)
1g.204155148T>ACA422833273RENc.1089A>T (p.Thr363=)
c.975A>T (p.Thr325=)
1g.204155148T>CCA35732313RENc.1089A>G (p.Thr363=)
c.975A>G (p.Thr325=)
 dbSNP
1g.204155148T>GCA422833274RENc.1089A>C (p.Thr363=)
c.975A>C (p.Thr325=)
1g.204155148T=CA2482055277RENc.1089A= (p.Thr363=)
c.975A= (p.Thr325=)
1g.204155149G>ACA344332415RENc.1088C>T (p.Thr363Ile)
c.974C>T (p.Thr325Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.204155149G>CCA344332416RENc.1088C>G (p.Thr363Arg)
c.974C>G (p.Thr325Arg)
1g.204155149G=CA2482055282RENc.1088C= (p.Thr363=)
c.974C= (p.Thr325=)
1g.204155149G>TCA344332417RENc.1088C>A (p.Thr363Lys)
c.974C>A (p.Thr325Lys)
1g.204155150T>ACA344332418RENc.1087A>T (p.Thr363Ser)
c.973A>T (p.Thr325Ser)
1g.204155150T>CCA344332419RENc.1087A>G (p.Thr363Ala)
c.973A>G (p.Thr325Ala)
1g.204155150T>GCA344332420RENc.1087A>C (p.Thr363Pro)
c.973A>C (p.Thr325Pro)
1g.204155151G>ACA422833281RENc.1086C>T (p.Cys362=)
c.972C>T (p.Cys324=)
1g.204155151G>CCA344332421RENc.1086C>G (p.Cys362Trp)
c.972C>G (p.Cys324Trp)
1g.204155151G>TCA344332423RENc.1086C>A (p.Cys362Ter)
c.972C>A (p.Cys324Ter)
1g.204155152C>ACA344332427RENc.1085G>T (p.Cys362Phe)
c.971G>T (p.Cys324Phe)
1g.204155152C>GCA344332429RENc.1085G>C (p.Cys362Ser)
c.971G>C (p.Cys324Ser)
 gnomAD v4
1g.204155152C>TCA344332426RENc.1085G>A (p.Cys362Tyr)
c.971G>A (p.Cys324Tyr)
1g.204155153A>CCA344332432RENc.1084T>G (p.Cys362Gly)
c.970T>G (p.Cys324Gly)
1g.204155153A>GCA344332434RENc.1084T>C (p.Cys362Arg)
c.970T>C (p.Cys324Arg)
1g.204155153A>TCA344332436RENc.1084T>A (p.Cys362Ser)
c.970T>A (p.Cys324Ser)
1g.204155154C>ACA422833287RENc.1083G>T (p.Leu361=)
c.969G>T (p.Leu323=)
1g.204155154C>GCA422833289RENc.1083G>C (p.Leu361=)
c.969G>C (p.Leu323=)
1g.204155154C>TCA422833290RENc.1083G>A (p.Leu361=)
c.969G>A (p.Leu323=)
1g.204155155A>CCA344332438RENc.1082T>G (p.Leu361Arg)
c.968T>G (p.Leu323Arg)
1g.204155155A>GCA344332440RENc.1082T>C (p.Leu361Pro)
c.968T>C (p.Leu323Pro)
1g.204155155A>TCA344332442RENc.1082T>A (p.Leu361Gln)
c.968T>A (p.Leu323Gln)
1g.204155156G>ACA422833291RENc.1081C>T (p.Leu361=)
c.967C>T (p.Leu323=)
 gnomAD v4
1g.204155156G>CCA344332444RENc.1081C>G (p.Leu361Val)
c.967C>G (p.Leu323Val)
1g.204155156G>TCA344332445RENc.1081C>A (p.Leu361Met)
c.967C>A (p.Leu323Met)
1g.204155157C>ACA344332446RENc.1080G>T (p.Lys360Asn)
c.966G>T (p.Lys322Asn)
 gnomAD v4
1g.204155157C>GCA344332448RENc.1080G>C (p.Lys360Asn)
c.966G>C (p.Lys322Asn)
1g.204155157C>TCA422833292RENc.1080G>A (p.Lys360=)
c.966G>A (p.Lys322=)
1g.204155158T>ACA344332450RENc.1079A>T (p.Lys360Met)
c.965A>T (p.Lys322Met)
1g.204155158T>CCA344332452RENc.1079A>G (p.Lys360Arg)
c.965A>G (p.Lys322Arg)
1g.204155158T>GCA344332455RENc.1079A>C (p.Lys360Thr)
c.965A>C (p.Lys322Thr)
1g.204155159T>ACA344332456RENc.1078A>T (p.Lys360Ter)
c.964A>T (p.Lys322Ter)
1g.204155159T>CCA344332459RENc.1078A>G (p.Lys360Glu)
c.964A>G (p.Lys322Glu)
1g.204155159T>GCA344332458RENc.1078A>C (p.Lys360Gln)
c.964A>C (p.Lys322Gln)
1g.204155160T>ACA344332461RENc.1077A>T (p.Lys359Asn)
c.963A>T (p.Lys321Asn)
1g.204155160T>CCA422833301RENc.1077A>G (p.Lys359=)
c.963A>G (p.Lys321=)
1g.204155160T>GCA344332463RENc.1077A>C (p.Lys359Asn)
c.963A>C (p.Lys321Asn)
1g.204155161T>ACA1344656RENc.1076A>T (p.Lys359Ile)
c.962A>T (p.Lys321Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204155161T>CCA1344657RENc.1076A>G (p.Lys359Arg)
c.962A>G (p.Lys321Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155161T>GCA344332468RENc.1076A>C (p.Lys359Thr)
c.962A>C (p.Lys321Thr)
1g.204155161T=CA2482055284RENc.1076A= (p.Lys359=)
c.962A= (p.Lys321=)
1g.204155162T>ACA344332471RENc.1075A>T (p.Lys359Ter)
c.961A>T (p.Lys321Ter)
1g.204155162T>CCA344332472RENc.1075A>G (p.Lys359Glu)
c.961A>G (p.Lys321Glu)
1g.204155162T>GCA344332474RENc.1075A>C (p.Lys359Gln)
c.961A>C (p.Lys321Gln)
1g.204155163A>CCA344332476RENc.1074T>G (p.Ser358Arg)
c.960T>G (p.Ser320Arg)
 gnomAD v4
1g.204155163A>GCA422833308RENc.1074T>C (p.Ser358=)
c.960T>C (p.Ser320=)
1g.204155163A>TCA344332478RENc.1074T>A (p.Ser358Arg)
c.960T>A (p.Ser320Arg)
1g.204155164C>ACA1344658RENc.1073G>T (p.Ser358Ile)
c.959G>T (p.Ser320Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155164C=CA2482055285RENc.1073G= (p.Ser358=)
c.959G= (p.Ser320=)
1g.204155164C>GCA344332483RENc.1073G>C (p.Ser358Thr)
c.959G>C (p.Ser320Thr)
1g.204155164C>TCA344332481RENc.1073G>A (p.Ser358Asn)
c.959G>A (p.Ser320Asn)
1g.204155165T>ACA344332486RENc.1072A>T (p.Ser358Cys)
c.958A>T (p.Ser320Cys)
1g.204155165T>CCA344332490RENc.1072A>G (p.Ser358Gly)
c.958A>G (p.Ser320Gly)
 dbSNP
1g.204155165T>GCA344332488RENc.1072A>C (p.Ser358Arg)
c.958A>C (p.Ser320Arg)
1g.204155165T=CA2482055286RENc.1072A= (p.Ser358=)
c.958A= (p.Ser320=)
1g.204155166A=CA2482055287RENc.1071T= (p.Ser357=)
c.957T= (p.Ser319=)
1g.204155166A>CCA344332492RENc.1071T>G (p.Ser357Arg)
c.957T>G (p.Ser319Arg)
1g.204155166A>GCA422833315RENc.1071T>C (p.Ser357=)
c.957T>C (p.Ser319=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155166A>TCA344332494RENc.1071T>A (p.Ser357Arg)
c.957T>A (p.Ser319Arg)
1g.204155167C>ACA344332496RENc.1070G>T (p.Ser357Ile)
c.956G>T (p.Ser319Ile)
 COSMIC
1g.204155167C=CA2482055288RENc.1070G= (p.Ser357=)
c.956G= (p.Ser319=)
1g.204155167C>GCA344332498RENc.1070G>C (p.Ser357Thr)
c.956G>C (p.Ser319Thr)
1g.204155167C>TCA344332500RENc.1070G>A (p.Ser357Asn)
c.956G>A (p.Ser319Asn)
 dbSNP
1g.204155168T>ACA344332502RENc.1069A>T (p.Ser357Cys)
c.955A>T (p.Ser319Cys)
 gnomAD v4
1g.204155168T>CCA344332504RENc.1069A>G (p.Ser357Gly)
c.955A>G (p.Ser319Gly)
1g.204155168T>GCA344332506RENc.1069A>C (p.Ser357Arg)
c.955A>C (p.Ser319Arg)
1g.204155169G>ACA1344659RENc.1068C>T (p.Tyr356=)
c.954C>T (p.Tyr318=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204155169G>CCA344332509RENc.1068C>G (p.Tyr356Ter)
c.954C>G (p.Tyr318Ter)
1g.204155169G=CA2482055289RENc.1068C= (p.Tyr356=)
c.954C= (p.Tyr318=)
1g.204155169G>TCA344332512RENc.1068C>A (p.Tyr356Ter)
c.954C>A (p.Tyr318Ter)
1g.204155170T>ACA344332514RENc.1067A>T (p.Tyr356Phe)
c.953A>T (p.Tyr318Phe)
1g.204155170T>CCA344332516RENc.1067A>G (p.Tyr356Cys)
c.953A>G (p.Tyr318Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155170T>GCA344332518RENc.1067A>C (p.Tyr356Ser)
c.953A>C (p.Tyr318Ser)
1g.204155170T=CA2482055290RENc.1067A= (p.Tyr356=)
c.953A= (p.Tyr318=)
1g.204155171A>CCA344332525RENc.1066T>G (p.Tyr356Asp)
c.952T>G (p.Tyr318Asp)
1g.204155171A>GCA344332521RENc.1066T>C (p.Tyr356His)
c.952T>C (p.Tyr318His)
1g.204155171A>TCA344332523RENc.1066T>A (p.Tyr356Asn)
c.952T>A (p.Tyr318Asn)
1g.204155172G>ACA422833326RENc.1065C>T (p.Ser355=)
c.951C>T (p.Ser317=)
1g.204155172G>CCA422833327RENc.1065C>G (p.Ser355=)
c.951C>G (p.Ser317=)
 gnomAD v4
1g.204155172G>TCA422833328RENc.1065C>A (p.Ser355=)
c.951C>A (p.Ser317=)
 gnomAD v4
1g.204155173G>ACA344332526RENc.1064C>T (p.Ser355Phe)
c.950C>T (p.Ser317Phe)
1g.204155173G>CCA344332529RENc.1064C>G (p.Ser355Cys)
c.950C>G (p.Ser317Cys)
1g.204155173G>TCA344332531RENc.1064C>A (p.Ser355Tyr)
c.950C>A (p.Ser317Tyr)
1g.204155174A>CCA344332533RENc.1063T>G (p.Ser355Ala)
c.949T>G (p.Ser317Ala)
1g.204155174A>GCA344332535RENc.1063T>C (p.Ser355Pro)
c.949T>C (p.Ser317Pro)
1g.204155174A>TCA344332536RENc.1063T>A (p.Ser355Thr)
c.949T>A (p.Ser317Thr)
1g.204155175T>ACA344332538RENc.1062A>T (p.Glu354Asp)
c.948A>T (p.Glu316Asp)
 gnomAD v4
1g.204155175T>CCA422833335RENc.1062A>G (p.Glu354=)
c.948A>G (p.Glu316=)
 gnomAD v4
1g.204155175T>GCA344332540RENc.1062A>C (p.Glu354Asp)
c.948A>C (p.Glu316Asp)
1g.204155176T>ACA344332542RENc.1061A>T (p.Glu354Val)
c.947A>T (p.Glu316Val)
1g.204155176T>CCA35732326RENc.1061A>G (p.Glu354Gly)
c.947A>G (p.Glu316Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204155176T>GCA344332544RENc.1061A>C (p.Glu354Ala)
c.947A>C (p.Glu316Ala)
1g.204155176T=CA1142102613RENc.1061A= (p.Glu354=)
c.947A= (p.Glu316=)
1g.204155177C>ACA344332551RENc.1060G>T (p.Glu354Ter)
c.946G>T (p.Glu316Ter)
1g.204155177C>GCA344332549RENc.1060G>C (p.Glu354Gln)
c.946G>C (p.Glu316Gln)
1g.204155177C>TCA344332547RENc.1060G>A (p.Glu354Lys)
c.946G>A (p.Glu316Lys)
1g.204155178C>ACA344332553RENc.1060-1G>T (n.1060-1G>T)
c.946-1G>T (n.946-1G>T)
1g.204155178C>GCA344332555RENc.1060-1G>C (n.1060-1G>C)
c.946-1G>C (n.946-1G>C)
1g.204155178C>TCA344332557RENc.1060-1G>A (n.1060-1G>A)
c.946-1G>A (n.946-1G>A)
1g.204155179T>ACA344332560RENc.1060-2A>T (n.1060-2A>T)
c.946-2A>T (n.946-2A>T)
1g.204155179T>CCA344332561RENc.1060-2A>G (n.1060-2A>G)
c.946-2A>G (n.946-2A>G)
 dbSNP
1g.204155179T>GCA344332562RENc.1060-2A>C (n.1060-2A>C)
c.946-2A>C (n.946-2A>C)
1g.204155179T=CA2482055291RENc.1060-2A= (n.1060-2A=)
c.946-2A= (n.946-2A=)
1g.204155180G>ACA2650012343RENc.1060-3C>T (n.1060-3C>T)
c.946-3C>T (n.946-3C>T)
 gnomAD v4

Number of alleles fetched