| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591168G>A | CA258449 | COL4A5 | c.1276G>A (p.Gly426Arg) n.732G>A c.952G>A (p.Gly318Arg) c.1291G>A (p.Gly431Arg) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108591168G>T | CA413932856 | COL4A5 | c.1276G>T (p.Gly426Ter) n.732G>T c.952G>T (p.Gly318Ter) c.1291G>T (p.Gly431Ter) c.-434G>T (n.-434G>T) | ClinVar dbSNP |