| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177610G>A | CA7925914 | ABCC6 | c.2432C>T (p.Thr811Met) c.2415+1188C>T (n.2415+1188C>T) c.2399C>T (p.Thr800Met) c.2090C>T (p.Thr697Met) n.2667C>T n.2668C>T n.2452+1188C>T c.2264C>T (p.Thr755Met) c.2468C>T (p.Thr823Met) n.2613C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16177610G>C | CA7925915 | ABCC6 | c.2432C>G (p.Thr811Arg) c.2415+1188C>G (n.2415+1188C>G) c.2399C>G (p.Thr800Arg) c.2090C>G (p.Thr697Arg) n.2667C>G n.2668C>G n.2452+1188C>G c.2264C>G (p.Thr755Arg) c.2468C>G (p.Thr823Arg) n.2613C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |