| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598799G>T | CA413845793 | COL4A5 | c.1877G>T (p.Gly626Val) n.1333G>T c.1553G>T (p.Gly518Val) c.1892G>T (p.Gly631Val) c.212G>T (p.Gly71Val) | ClinVar dbSNP |
| X | g.108598799G>C | CA258562 | COL4A5 | c.1877G>C (p.Gly626Ala) n.1333G>C c.1553G>C (p.Gly518Ala) c.1892G>C (p.Gly631Ala) c.212G>C (p.Gly71Ala) | dbSNP |