| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601441G>T | CA334039747 | COL4A5 | c.1997G>T (p.Gly666Val) n.1453G>T c.1673G>T (p.Gly558Val) c.2012G>T (p.Gly671Val) c.332G>T (p.Gly111Val) | dbSNP |
| X | g.108601441G>A | CA258586 | COL4A5 | c.1997G>A (p.Gly666Asp) n.1453G>A c.1673G>A (p.Gly558Asp) c.2012G>A (p.Gly671Asp) c.332G>A (p.Gly111Asp) | ClinVar dbSNP |
| X | g.108601441G= | CA2450689750 | COL4A5 | c.1997G= (p.Gly666=) n.1453G= c.1673G= (p.Gly558=) c.2012G= (p.Gly671=) c.332G= (p.Gly111=) | dbSNP |