| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108578079G>T | CA258303 | COL4A5 | c.647G>T (p.Gly216Val) c.323G>T (p.Gly108Val) c.662G>T (p.Gly221Val) | dbSNP |
| X | g.108578079G>A | CA413923445 | COL4A5 | c.647G>A (p.Gly216Glu) c.323G>A (p.Gly108Glu) c.662G>A (p.Gly221Glu) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108578079G= | CA2450682218 | COL4A5 | c.647G= (p.Gly216=) c.323G= (p.Gly108=) c.662G= (p.Gly221=) | dbSNP |