| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.158114846_158114847del | CA571904275 | SERAC1 | c.840_841del (n.840_841del) c.*1348_*1349del (n.*1348_*1349del) c.1538_1539del (p.Ser513CysfsTer2) c.1628_1629del (p.Ser543CysfsTer2) c.*1249_*1250del (n.*1249_*1250del) c.*1330_*1331del (n.*1330_*1331del) n.2959_2960del c.1364_1365del (p.Ser455CysfsTer2) c.1499_1500del (p.Ser500CysfsTer2) c.*1462_*1463del (n.*1462_*1463del) c.*1316_*1317del (n.*1316_*1317del) c.*76_*77del (n.*76_*77del) c.353_354del (p.Ser118CysfsTer2) c.*189_*190del (n.*189_*190del) c.*1562_*1563del (n.*1562_*1563del) c.*2906_*2907del (n.*2906_*2907del) n.1561_1562del c.1418_1419del (p.Ser473CysfsTer2) c.1607_1608del (p.Ser536CysfsTer2) c.1514_1515del (p.Ser505CysfsTer2) n.1659_1660del n.1710_1711del n.1543_1544del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.158114846_158114847dup | CA319980 | SERAC1 | c.840_841dup (n.840_841dup) c.*1348_*1349dup (n.*1348_*1349dup) c.1538_1539dup (p.Val514LeufsTer?) c.1628_1629dup (p.Val544LeufsTer?) c.*1249_*1250dup (n.*1249_*1250dup) c.*1330_*1331dup (n.*1330_*1331dup) n.2959_2960dup c.1364_1365dup (p.Val456LeufsTer?) c.1499_1500dup (p.Val501LeufsTer?) c.*1462_*1463dup (n.*1462_*1463dup) c.*1316_*1317dup (n.*1316_*1317dup) c.*76_*77dup (n.*76_*77dup) c.353_354dup (p.Val119LeufsTer?) c.*189_*190dup (n.*189_*190dup) c.*1562_*1563dup (n.*1562_*1563dup) c.*2906_*2907dup (n.*2906_*2907dup) n.1561_1562dup c.1418_1419dup (p.Val474LeufsTer?) c.1607_1608dup (p.Val537LeufsTer?) c.1514_1515dup (p.Val506LeufsTer?) n.1659_1660dup n.1710_1711dup n.1543_1544dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |