| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16159514G>A | CA7925480 | ABCC6 | c.3703C>T (p.Arg1235Trp) c.517C>T (p.Arg173Trp) c.3328C>T (n.3328C>T) c.*912C>T (n.*912C>T) c.3670C>T (p.Arg1224Trp) c.3361C>T (p.Arg1121Trp) n.3938C>T n.3739C>T n.539-267G>A n.3365C>T c.3535C>T (p.Arg1179Trp) c.3739C>T (p.Arg1247Trp) n.3884C>T n.3684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16159514G>C | CA394878738 | ABCC6 | c.3703C>G (p.Arg1235Gly) c.517C>G (p.Arg173Gly) c.3328C>G (n.3328C>G) c.*912C>G (n.*912C>G) c.3670C>G (p.Arg1224Gly) c.3361C>G (p.Arg1121Gly) n.3938C>G n.3739C>G n.539-267G>C n.3365C>G c.3535C>G (p.Arg1179Gly) c.3739C>G (p.Arg1247Gly) n.3884C>G n.3684C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |