Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5987531_5987533dupCA4150118PMS2c.*633_*635dup (n.*633_*635dup)
c.1234_1236dup (p.Lys412_Asp413insLys)
c.1129_1131dup (p.Lys377_Asp378insLys)
c.1237_1239dup (p.Lys413_Asp414insLys)
c.*831_*833dup (n.*831_*833dup)
c.1081_1083dup (p.Lys361_Asp362insLys)
c.*658_*660dup (n.*658_*660dup)
c.1039_1041dup (p.Lys347_Asp348insLys)
c.*636_*638dup (n.*636_*638dup)
c.*824_*826dup (n.*824_*826dup)
c.*494_*496dup (n.*494_*496dup)
n.2091_2093dup
c.919_921dup (p.Lys307_Asp308insLys)
c.832_834dup (p.Lys278_Asp279insLys)
c.664_666dup (p.Lys222_Asp223insLys)
c.*327_*329dup (n.*327_*329dup)
c.*333_*335dup (n.*333_*335dup)
n.1350_1352dup
c.860_862dup
c.*768_*770dup (n.*768_*770dup)
c.*127_*129dup (n.*127_*129dup)
c.*394_*396dup (n.*394_*396dup)
c.1144+2272_1144+2274dup (n.1144+2272_1144+2274dup)
c.*689_*691dup (n.*689_*691dup)
c.*740_*742dup (n.*740_*742dup)
c.676_678dup (p.Lys226_Asp227insLys)
c.1069_1071dup (p.Lys357_Asp358insLys)
n.3009_3011dup
c.*1137_*1139dup (n.*1137_*1139dup)
c.1423_1425dup (p.Lys475_Asp476insLys)
c.*686_*688dup (n.*686_*688dup)
c.*738_*740dup (n.*738_*740dup)
c.*873_*875dup (n.*873_*875dup)
c.988+4445_988+4447dup (n.988+4445_988+4447dup)
c.*538_*540dup (n.*538_*540dup)
n.2665_2667dup
c.803+9798_803+9800dup (n.803+9798_803+9800dup)
c.*344_*346dup (n.*344_*346dup)
c.804-4537_804-4535dup (n.804-4537_804-4535dup)
n.1237_1239dup
n.63-4623_63-4621dup
n.1319_1321dup
c.1231_1233dup (p.Lys411_Asp412insLys)
c.304_306dup (p.Lys102_Asp103insLys)
c.1282_1284dup (p.Lys428_Asp429insLys)
c.1126_1128dup (p.Lys376_Asp377insLys)
c.928_930dup (p.Lys310_Asp311insLys)
n.1324_1326dup
 ClinVar dbSNP ExAC gnomAD v2
7g.5987533delCA453748330PMS2c.*635del (n.*635del)
c.1236del (p.Asp413ThrfsTer?)
c.1131del (p.Asp378ThrfsTer?)
c.1239del (p.Asp414ThrfsTer?)
c.*833del (n.*833del)
c.1083del (p.Asp362ThrfsTer?)
c.*660del (n.*660del)
c.1041del (p.Asp348ThrfsTer?)
c.*638del (n.*638del)
c.*826del (n.*826del)
c.*496del (n.*496del)
n.2093del
c.921del (p.Asp308ThrfsTer?)
c.834del (p.Asp279ThrfsTer?)
c.666del (p.Asp223ThrfsTer?)
c.*329del (n.*329del)
c.*335del (n.*335del)
n.1352del
c.862del
c.*770del (n.*770del)
c.*129del (n.*129del)
c.*396del (n.*396del)
c.1144+2274del (n.1144+2274del)
c.*691del (n.*691del)
c.*742del (n.*742del)
c.678del (p.Asp227ThrfsTer?)
c.1071del (p.Asp358ThrfsTer?)
c.*740del (n.*740del)
n.3011del
c.*1139del (n.*1139del)
c.1425del (p.Asp476ThrfsTer?)
c.1236del (p.Lys412=)
c.*688del (n.*688del)
c.*875del (n.*875del)
c.988+4447del (n.988+4447del)
c.*540del (n.*540del)
n.2667del
c.*457del (n.*457del)
c.803+9800del (n.803+9800del)
c.*346del (n.*346del)
c.804-4535del (n.804-4535del)
n.1239del
n.63-4621del
n.1321del
c.1233del (p.Asp412ThrfsTer?)
c.306del (p.Asp103ThrfsTer?)
c.1284del (p.Asp429ThrfsTer?)
c.1128del (p.Asp377ThrfsTer?)
c.930del (p.Asp311ThrfsTer?)
n.1326del
 ClinVar dbSNP gnomAD v4 COSMIC
7g.5987531_5987533delCA009383PMS2c.*633_*635del (n.*633_*635del)
c.1234_1236del (p.Lys412del)
c.1129_1131del (p.Lys377del)
c.1237_1239del (p.Lys413del)
c.*831_*833del (n.*831_*833del)
c.1081_1083del (p.Lys361del)
c.*658_*660del (n.*658_*660del)
c.1039_1041del (p.Lys347del)
c.*636_*638del (n.*636_*638del)
c.*824_*826del (n.*824_*826del)
c.*494_*496del (n.*494_*496del)
n.2091_2093del
c.919_921del (p.Lys307del)
c.832_834del (p.Lys278del)
c.664_666del (p.Lys222del)
c.*327_*329del (n.*327_*329del)
c.*333_*335del (n.*333_*335del)
n.1350_1352del
c.860_862del
c.*768_*770del (n.*768_*770del)
c.*127_*129del (n.*127_*129del)
c.*394_*396del (n.*394_*396del)
c.1144+2272_1144+2274del (n.1144+2272_1144+2274del)
c.*689_*691del (n.*689_*691del)
c.*740_*742del (n.*740_*742del)
c.676_678del (p.Lys226del)
c.1069_1071del (p.Lys357del)
c.*738_*740del (n.*738_*740del)
n.3009_3011del
c.*1137_*1139del (n.*1137_*1139del)
c.1423_1425del (p.Lys475del)
c.*686_*688del (n.*686_*688del)
c.*873_*875del (n.*873_*875del)
c.988+4445_988+4447del (n.988+4445_988+4447del)
c.*538_*540del (n.*538_*540del)
n.2665_2667del
c.*455_*457del (n.*455_*457del)
c.803+9798_803+9800del (n.803+9798_803+9800del)
c.*344_*346del (n.*344_*346del)
c.804-4537_804-4535del (n.804-4537_804-4535del)
n.1237_1239del
n.63-4623_63-4621del
n.1319_1321del
c.1231_1233del (p.Lys411del)
c.304_306del (p.Lys102del)
c.1282_1284del (p.Lys428del)
c.1126_1128del (p.Lys376del)
c.928_930del (p.Lys310del)
n.1324_1326del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.5987533dupCA339080PMS2c.*635dup (n.*635dup)
c.1236dup (p.Asp413ArgfsTer?)
c.1131dup (p.Asp378ArgfsTer?)
c.1239dup (p.Asp414ArgfsTer?)
c.*833dup (n.*833dup)
c.1083dup (p.Asp362ArgfsTer?)
c.*660dup (n.*660dup)
c.1041dup (p.Asp348ArgfsTer?)
c.*638dup (n.*638dup)
c.*826dup (n.*826dup)
c.*496dup (n.*496dup)
n.2093dup
c.921dup (p.Asp308ArgfsTer?)
c.834dup (p.Asp279ArgfsTer?)
c.666dup (p.Asp223ArgfsTer?)
c.*329dup (n.*329dup)
c.*335dup (n.*335dup)
n.1352dup
c.862dup
c.*770dup (n.*770dup)
c.*129dup (n.*129dup)
c.*396dup (n.*396dup)
c.1144+2274dup (n.1144+2274dup)
c.*691dup (n.*691dup)
c.*742dup (n.*742dup)
c.678dup (p.Asp227ArgfsTer?)
c.1071dup (p.Asp358ArgfsTer?)
n.3011dup
c.*1139dup (n.*1139dup)
c.1425dup (p.Asp476ArgfsTer?)
c.*688dup (n.*688dup)
c.*740dup (n.*740dup)
c.*875dup (n.*875dup)
c.988+4447dup (n.988+4447dup)
c.*540dup (n.*540dup)
n.2667dup
c.803+9800dup (n.803+9800dup)
c.*346dup (n.*346dup)
c.804-4535dup (n.804-4535dup)
n.1239dup
n.63-4621dup
n.1321dup
c.1233dup (p.Asp412ArgfsTer?)
c.306dup (p.Asp103ArgfsTer?)
c.1284dup (p.Asp429ArgfsTer?)
c.1128dup (p.Asp377ArgfsTer?)
c.930dup (p.Asp311ArgfsTer?)
n.1326dup
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched