| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598835G>A | CA334038986 | COL4A5 | c.1913G>A (p.Gly638Asp) n.1369G>A c.1589G>A (p.Gly530Asp) c.1928G>A (p.Gly643Asp) c.248G>A (p.Gly83Asp) | dbSNP |
| X | g.108598835G>T | CA258577 | COL4A5 | c.1913G>T (p.Gly638Val) n.1369G>T c.1589G>T (p.Gly530Val) c.1928G>T (p.Gly643Val) c.248G>T (p.Gly83Val) | dbSNP |
| X | g.108598835G>C | CA258575 | COL4A5 | c.1913G>C (p.Gly638Ala) n.1369G>C c.1589G>C (p.Gly530Ala) c.1928G>C (p.Gly643Ala) c.248G>C (p.Gly83Ala) | ClinVar dbSNP |