| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188765G>A | CA260309 | COL1A1 | c.3076C>T (p.Arg1026Ter) n.20C>T c.2806C>T (p.Arg936Ter) c.2158C>T (p.Arg720Ter) c.2878C>T (p.Arg960Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188765G>T | CA500844613 | COL1A1 | c.3076C>A (p.Arg1026=) n.20C>A c.2806C>A (p.Arg936=) c.2158C>A (p.Arg720=) c.2878C>A (p.Arg960=) | dbSNP gnomAD v4 |
| 17 | g.50188765G>C | CA400203186 | COL1A1 | c.3076C>G (p.Arg1026Gly) n.20C>G c.2806C>G (p.Arg936Gly) c.2158C>G (p.Arg720Gly) c.2878C>G (p.Arg960Gly) | dbSNP gnomAD v2 gnomAD v4 |