| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51914445G>A | CA119406 | ACVRL1 | c.362G>A (p.Gly121Asp) c.632G>A (p.Gly211Asp) c.110G>A (p.Gly37Asp) c.674G>A (p.Gly225Asp) c.-158G>A (n.-158G>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51914445G>T | CA384899958 | ACVRL1 | c.362G>T (p.Gly121Val) c.632G>T (p.Gly211Val) c.110G>T (p.Gly37Val) c.674G>T (p.Gly225Val) c.-158G>T (n.-158G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51914445G= | CA2036268927 | ACVRL1 | c.362G= (p.Gly121=) c.632G= (p.Gly211=) c.110G= (p.Gly37=) c.674G= (p.Gly225=) c.-158G= (n.-158G=) | dbSNP |