| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108571414G>T | CA258237 | COL4A5 | c.386G>T (p.Gly129Val) c.62G>T (p.Gly21Val) c.401G>T (p.Gly134Val) | dbSNP |
| X | g.108571414G>A | CA258235 | COL4A5 | c.386G>A (p.Gly129Glu) c.62G>A (p.Gly21Glu) c.401G>A (p.Gly134Glu) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108571414G= | CA2450680104 | COL4A5 | c.386G= (p.Gly129=) c.62G= (p.Gly21=) c.401G= (p.Gly134=) | dbSNP |