| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16159556G>A | CA7925488 | ABCC6 | c.3661C>T (p.Arg1221Cys) c.475C>T (p.Arg159Cys) c.3286C>T (n.3286C>T) c.*870C>T (n.*870C>T) c.3628C>T (p.Arg1210Cys) c.3319C>T (p.Arg1107Cys) n.3896C>T n.3697C>T n.539-225G>A n.3323C>T c.3493C>T (p.Arg1165Cys) c.3697C>T (p.Arg1233Cys) n.3842C>T n.3642C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16159556G>C | CA394878861 | ABCC6 | c.3661C>G (p.Arg1221Gly) c.475C>G (p.Arg159Gly) c.3286C>G (n.3286C>G) c.*870C>G (n.*870C>G) c.3628C>G (p.Arg1210Gly) c.3319C>G (p.Arg1107Gly) n.3896C>G n.3697C>G n.539-225G>C n.3323C>G c.3493C>G (p.Arg1165Gly) c.3697C>G (p.Arg1233Gly) n.3842C>G n.3642C>G | dbSNP |