Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104050642T>G | CA378069484 | COL17A1 | c.2107A>C (p.Met703Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104050642T>C | CA5678696 | COL17A1 | c.2107A>G (p.Met703Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104050642T>A | CA378069483 | COL17A1 | c.2107A>T (p.Met703Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |