| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104033992T>C | CA5677717 | COL17A1 | c.3863A>G (p.Asp1288Gly) c.139A>G c.4109A>G (p.Asp1370Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104033992T>G | CA5677718 | COL17A1 | c.3863A>C (p.Asp1288Ala) c.139A>C c.4109A>C (p.Asp1370Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |