Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5987531_5987533delCA009383PMS2c.1237_1239del (p.Lys413del)
c.832_834del (p.Lys278del)
c.*636_*638del (p.=)
n.919_921del (p.Lys307del)
n.804-4537_804-4535del (p.=)
n.1237_1239del
c.919_921del (p.Lys307del)
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.1081_1083del (p.Lys361del)
c.676_678del (p.Lys226del)
c.664_666del (p.Lys222del)
c.928_930del (p.Lys310del)
n.1324_1326del
ClinVar dbSNP ExAC gnomAD
7g.5987531_5987533dupCA4150118PMS2c.1237_1239dup (p.Lys413_Asp414insLys)
c.832_834dup (p.Lys278_Asp279insLys)
c.*636_*638dup (p.=)
n.919_921dup (p.Lys307_Asp308insLys)
n.804-4537_804-4535dup (p.=)
n.1237_1239dup
c.919_921dup (p.Lys307_Asp308insLys)
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.1081_1083dup (p.Lys361_Asp362insLys)
c.676_678dup (p.Lys226_Asp227insLys)
c.664_666dup (p.Lys222_Asp223insLys)
c.928_930dup (p.Lys310_Asp311insLys)
n.1324_1326dup
dbSNP dbSNP ExAC gnomAD
7g.5987533dupCA339080PMS2c.1239dup (p.Asp414ArgfsTer?)
c.834dup (p.Asp279ArgfsTer?)
c.*638dup (p.=)
n.921dup (p.Asp308ArgfsTer?)
n.804-4535dup (p.=)
n.1239dup
c.921dup (p.Asp308ArgfsTer?)
n.63-4621dup
n.1321dup
c.1233dup (p.Asp412ArgfsTer?)
c.306dup (p.Asp103ArgfsTer?)
c.1284dup (p.Asp429ArgfsTer?)
c.1128dup (p.Asp377ArgfsTer?)
c.1083dup (p.Asp362ArgfsTer?)
c.678dup (p.Asp227ArgfsTer?)
c.666dup (p.Asp223ArgfsTer?)
c.930dup (p.Asp311ArgfsTer?)
n.1326dup
ClinVar dbSNP dbSNP gnomAD COSMIC

Number of alleles fetched