| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154732del | CA278676811 | ABCC6 | n.967del c.*276del (n.*276del) c.4104del (p.Asp1368GlufsTer?) c.918del (p.Asp306GlufsTer?) c.3729del (n.3729del) c.*1313del (n.*1313del) c.4071del (p.Asp1357GlufsTer?) c.3762del (p.Asp1254GlufsTer?) n.539-5049del n.3766del c.3936del (p.Asp1312GlufsTer?) c.4140del (p.Asp1380GlufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154732G= | CA2210140562 | ABCC6 | n.967C= c.*276C= (n.*276C=) c.4104C= (p.Asp1368=) c.918C= (p.Asp306=) c.3729C= (n.3729C=) c.*1313C= (n.*1313C=) c.4071C= (p.Asp1357=) c.3762C= (p.Asp1254=) n.539-5049G= n.3766C= c.3936C= (p.Asp1312=) c.4140C= (p.Asp1380=) | dbSNP dbSNP |