| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189035106G>C | CA2021833 | COL5A2 | c.4163C>G (p.Thr1388Ser) c.3002C>G (p.Thr1001Ser) c.4025C>G (p.Thr1342Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189035106G>A | CA16610672 | COL5A2 | c.4163C>T (p.Thr1388Ile) c.3002C>T (p.Thr1001Ile) c.4025C>T (p.Thr1342Ile) | ClinVar dbSNP |
| 2 | g.189035106G>T | CA281496 | COL5A2 | c.4163C>A (p.Thr1388Asn) c.3002C>A (p.Thr1001Asn) c.4025C>A (p.Thr1342Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |