| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626218G>A | CA258808 | COL4A5 | c.3115G>A (p.Gly1039Ser) n.2571G>A c.348G>A c.2791G>A (p.Gly931Ser) c.688G>A (p.Gly230Ser) c.3130G>A (p.Gly1044Ser) c.1450G>A (p.Gly484Ser) | ClinVar dbSNP |
| X | g.108626218G= | CA2450698066 | COL4A5 | c.3115G= (p.Gly1039=) n.2571G= c.348G= c.2791G= (p.Gly931=) c.688G= (p.Gly230=) c.3130G= (p.Gly1044=) c.1450G= (p.Gly484=) | dbSNP |
| X | g.108626218G>T | CA413854859 | COL4A5 | c.3115G>T (p.Gly1039Cys) n.2571G>T c.348G>T c.2791G>T (p.Gly931Cys) c.688G>T (p.Gly230Cys) c.3130G>T (p.Gly1044Cys) c.1450G>T (p.Gly484Cys) | ClinVar dbSNP |