| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108559083G>T | CA413914096 | COL4A5 | c.161G>T (p.Gly54Val) n.345G>T c.-164G>T (n.-164G>T) c.176G>T (p.Gly59Val) | ClinVar dbSNP |
| X | g.108559083G>A | CA255268 | COL4A5 | c.161G>A (p.Gly54Asp) n.345G>A c.-164G>A (n.-164G>A) c.176G>A (p.Gly59Asp) | ClinVar dbSNP |
| X | g.108559083G= | CA2450676225 | COL4A5 | c.161G= (p.Gly54=) n.345G= c.-164G= (n.-164G=) c.176G= (p.Gly59=) | dbSNP |