| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154788T>G | CA278676828 | ABCC6 | n.911A>C c.*220A>C (n.*220A>C) c.4048A>C (p.Ile1350Leu) c.862A>C (p.Ile288Leu) c.3673A>C (n.3673A>C) c.*1257A>C (n.*1257A>C) c.4015A>C (p.Ile1339Leu) c.3706A>C (p.Ile1236Leu) n.539-4993T>G n.3710A>C c.3880A>C (p.Ile1294Leu) c.4084A>C (p.Ile1362Leu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.16154788T= | CA2210140659 | ABCC6 | n.911A= c.*220A= (n.*220A=) c.4048A= (p.Ile1350=) c.862A= (p.Ile288=) c.3673A= (n.3673A=) c.*1257A= (n.*1257A=) c.4015A= (p.Ile1339=) c.3706A= (p.Ile1236=) n.539-4993T= n.3710A= c.3880A= (p.Ile1294=) c.4084A= (p.Ile1362=) | dbSNP |