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 |