| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16178961A>G | CA394888196 | ABCC6 | c.2252T>C (p.Met751Thr) c.1910T>C (p.Met637Thr) n.2487T>C n.2488T>C n.2289T>C c.2248-1335T>C (n.2248-1335T>C) c.2288T>C (p.Met763Thr) n.2433T>C | dbSNP |
| 16 | g.16178961A>T | CA278645448 | ABCC6 | c.2252T>A (p.Met751Lys) c.1910T>A (p.Met637Lys) n.2487T>A n.2488T>A n.2289T>A c.2248-1335T>A (n.2248-1335T>A) c.2288T>A (p.Met763Lys) n.2433T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |