| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601989G>A | CA413847104 | COL4A5 | c.2146G>A (p.Gly716Ser) n.1602G>A c.1822G>A (p.Gly608Ser) c.2161G>A (p.Gly721Ser) c.481G>A (p.Gly161Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108601989G>C | CA258620 | COL4A5 | c.2146G>C (p.Gly716Arg) n.1602G>C c.1822G>C (p.Gly608Arg) c.2161G>C (p.Gly721Arg) c.481G>C (p.Gly161Arg) | dbSNP |