| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108621817A>G | CA258739 | COL4A5 | c.2692A>G (p.Met898Val) n.2148A>G c.2368A>G (p.Met790Val) c.265A>G (p.Met89Val) c.2707A>G (p.Met903Val) c.1027A>G (p.Met343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108621817A= | CA2450696566 | COL4A5 | c.2692A= (p.Met898=) n.2148A= c.2368A= (p.Met790=) c.265A= (p.Met89=) c.2707A= (p.Met903=) c.1027A= (p.Met343=) | dbSNP |