| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50189208T>C | CA260302 | COL1A1 | c.2897A>G (p.Gln966Arg) c.2668-198A>G (n.2668-198A>G) c.1979A>G (p.Gln660Arg) c.2699A>G (p.Gln900Arg) | ClinVar dbSNP |
| 17 | g.50189208T= | CA2263915558 | COL1A1 | c.2897A= (p.Gln966=) c.2668-198A= (n.2668-198A=) c.1979A= (p.Gln660=) c.2699A= (p.Gln900=) | dbSNP |
| 17 | g.50189208T>A | CA400204879 | COL1A1 | c.2897A>T (p.Gln966Leu) c.2668-198A>T (n.2668-198A>T) c.1979A>T (p.Gln660Leu) c.2699A>T (p.Gln900Leu) | dbSNP |