| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582884G>A | CA258363 | COL4A5 | c.937G>A (p.Gly313Ser) n.393G>A c.613G>A (p.Gly205Ser) c.952G>A (p.Gly318Ser) c.-773G>A (n.-773G>A) | dbSNP |
| X | g.108582884G>T | CA413927358 | COL4A5 | c.937G>T (p.Gly313Cys) n.393G>T c.613G>T (p.Gly205Cys) c.952G>T (p.Gly318Cys) c.-773G>T (n.-773G>T) | ClinVar dbSNP |
| X | g.108582884G= | CA2450683798 | COL4A5 | c.937G= (p.Gly313=) n.393G= c.613G= (p.Gly205=) c.952G= (p.Gly318=) c.-773G= (n.-773G=) | dbSNP |