Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.48167589_48167615del | CA116355 | ABCC11 | c.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 |
16 | g.48167589_48167615dup | CA2220652502 | ABCC11 | c.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 |