Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.48167589_48167615delCA116355ABCC11c.3939_3965del (p.Asp1313_Arg1321del)
c.3825_3851del (p.Asp1275_Arg1283del)
n.1239_1265del
c.3741_3767del (p.Asp1247_Arg1255del)
c.2982_3008del (p.Asp994_Arg1002del)
c.2070_2096del (p.Asp690_Arg698del)
c.3831_3857del (p.Asp1277_Arg1285del)
n.6617_6643del
c.3945_3971del (p.Asp1315_Arg1323del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.48167589_48167615dupCA2220652502ABCC11c.3939_3965dup (p.Arg1321_Glu1322insAspThrLeuIleGlnArgThrIleArg)
c.3825_3851dup (p.Arg1283_Glu1284insAspThrLeuIleGlnArgThrIleArg)
n.1239_1265dup
c.3741_3767dup (p.Arg1255_Glu1256insAspThrLeuIleGlnArgThrIleArg)
c.2982_3008dup (p.Arg1002_Glu1003insAspThrLeuIleGlnArgThrIleArg)
c.2070_2096dup (p.Arg698_Glu699insAspThrLeuIleGlnArgThrIleArg)
c.3831_3857dup (p.Arg1285_Glu1286insAspThrLeuIleGlnArgThrIleArg)
n.6617_6643dup
c.3945_3971dup (p.Arg1323_Glu1324insAspThrLeuIleGlnArgThrIleArg)
dbSNP

Number of alleles fetched