| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601903G>T | CA413846929 | COL4A5 | c.2060G>T (p.Gly687Val) n.1516G>T c.1736G>T (p.Gly579Val) c.2075G>T (p.Gly692Val) c.395G>T (p.Gly132Val) | dbSNP gnomAD v4 |
| X | g.108601903G>A | CA258611 | COL4A5 | c.2060G>A (p.Gly687Glu) n.1516G>A c.1736G>A (p.Gly579Glu) c.2075G>A (p.Gly692Glu) c.395G>A (p.Gly132Glu) | dbSNP gnomAD v4 |
| X | g.108601903G= | CA2450689944 | COL4A5 | c.2060G= (p.Gly687=) n.1516G= c.1736G= (p.Gly579=) c.2075G= (p.Gly692=) c.395G= (p.Gly132=) | dbSNP |