| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108655341G>A | CA258847 | COL4A5 | c.3257G>A (p.Gly1086Asp) c.2933G>A (p.Gly978Asp) c.830G>A (p.Gly277Asp) c.3272G>A (p.Gly1091Asp) c.1592G>A (p.Gly531Asp) | dbSNP |
| X | g.108655341G>T | CA413857208 | COL4A5 | c.3257G>T (p.Gly1086Val) c.2933G>T (p.Gly978Val) c.830G>T (p.Gly277Val) c.3272G>T (p.Gly1091Val) c.1592G>T (p.Gly531Val) | ClinVar dbSNP |
| X | g.108655341G= | CA2450708596 | COL4A5 | c.3257G= (p.Gly1086=) c.2933G= (p.Gly978=) c.830G= (p.Gly277=) c.3272G= (p.Gly1091=) c.1592G= (p.Gly531=) | dbSNP |