| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51919008C>T | CA384903729 | ACVRL1 | c.1000C>T (p.Pro334Ser) c.1270C>T (p.Pro424Ser) c.748C>T (p.Pro250Ser) n.545C>T c.1312C>T (p.Pro438Ser) c.275C>T c.481C>T (p.Pro161Ser) | ClinVar dbSNP |
| 12 | g.51919008C>G | CA384903726 | ACVRL1 | c.1000C>G (p.Pro334Ala) c.1270C>G (p.Pro424Ala) c.748C>G (p.Pro250Ala) n.545C>G c.1312C>G (p.Pro438Ala) c.275C>G c.481C>G (p.Pro161Ala) | ClinVar dbSNP |
| 12 | g.51919008C>A | CA384903725 | ACVRL1 | c.1000C>A (p.Pro334Thr) c.1270C>A (p.Pro424Thr) c.748C>A (p.Pro250Thr) n.545C>A c.1312C>A (p.Pro438Thr) c.275C>A c.481C>A (p.Pro161Thr) | ClinVar dbSNP |