| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620409G>T | CA258734 | COL4A5 | c.2660G>T (p.Gly887Val) n.2116G>T c.2336G>T (p.Gly779Val) c.233G>T (p.Gly78Val) c.2675G>T (p.Gly892Val) c.995G>T (p.Gly332Val) | ClinVar dbSNP |
| X | g.108620409G>A | CA413851683 | COL4A5 | c.2660G>A (p.Gly887Asp) n.2116G>A c.2336G>A (p.Gly779Asp) c.233G>A (p.Gly78Asp) c.2675G>A (p.Gly892Asp) c.995G>A (p.Gly332Asp) | ClinVar dbSNP |