| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108575911G>A | CA413921892 | COL4A5 | c.548G>A (p.Gly183Asp) c.224G>A (p.Gly75Asp) c.563G>A (p.Gly188Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108575911G>T | CA258270 | COL4A5 | c.548G>T (p.Gly183Val) c.224G>T (p.Gly75Val) c.563G>T (p.Gly188Val) | ClinVar dbSNP gnomAD v4 |
| X | g.108575911G= | CA2450681476 | COL4A5 | c.548G= (p.Gly183=) c.224G= (p.Gly75=) c.563G= (p.Gly188=) | dbSNP |