| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16173376G>C | CA278641488 | ABCC6 | c.2695C>G (p.Arg899Gly) c.2520C>G (p.Thr840=) n.182C>G c.2662C>G (p.Arg888Gly) c.2353C>G (p.Arg785Gly) c.*38C>G (n.*38C>G) n.2930C>G n.2931C>G n.2557C>G c.2527C>G (p.Arg843Gly) c.2731C>G (p.Arg911Gly) n.2876C>G | dbSNP COSMIC |
| 16 | g.16173376G>A | CA7925813 | ABCC6 | c.2695C>T (p.Arg899Cys) c.2520C>T (p.Thr840=) n.182C>T c.2662C>T (p.Arg888Cys) c.2353C>T (p.Arg785Cys) c.*38C>T (n.*38C>T) n.2930C>T n.2931C>T n.2557C>T c.2527C>T (p.Arg843Cys) c.2731C>T (p.Arg911Cys) n.2876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |