| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580983G>A | CA258351 | COL4A5 | c.892G>A (p.Gly298Ser) c.568G>A (p.Gly190Ser) c.907G>A (p.Gly303Ser) | dbSNP |
| X | g.108580983G>T | CA413926711 | COL4A5 | c.892G>T (p.Gly298Cys) c.568G>T (p.Gly190Cys) c.907G>T (p.Gly303Cys) | ClinVar dbSNP |
| X | g.108580983G= | CA2450683187 | COL4A5 | c.892G= (p.Gly298=) c.568G= (p.Gly190=) c.907G= (p.Gly303=) | dbSNP |