| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50189173G>A | CA260305 | COL1A1 | c.2932C>T (p.Pro978Ser) c.2668-163C>T (n.2668-163C>T) c.2014C>T (p.Pro672Ser) c.2734C>T (p.Pro912Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50189173G>C | CA400204633 | COL1A1 | c.2932C>G (p.Pro978Ala) c.2668-163C>G (n.2668-163C>G) c.2014C>G (p.Pro672Ala) c.2734C>G (p.Pro912Ala) | dbSNP |
| 17 | g.50189173G= | CA2263915538 | COL1A1 | c.2932C= (p.Pro978=) c.2668-163C= (n.2668-163C=) c.2014C= (p.Pro672=) c.2734C= (p.Pro912=) | dbSNP |