| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108665560G>A | CA258865 | COL4A5 | c.3427G>A (p.Gly1143Ser) c.3103G>A (p.Gly1035Ser) c.1000G>A (p.Gly334Ser) c.3442G>A (p.Gly1148Ser) c.1762G>A (p.Gly588Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108665560G>T | CA413847304 | COL4A5 | c.3427G>T (p.Gly1143Cys) c.3103G>T (p.Gly1035Cys) c.1000G>T (p.Gly334Cys) c.3442G>T (p.Gly1148Cys) c.1762G>T (p.Gly588Cys) | ClinVar dbSNP |
| X | g.108665560G= | CA2450711991 | COL4A5 | c.3427G= (p.Gly1143=) c.3103G= (p.Gly1035=) c.1000G= (p.Gly334=) c.3442G= (p.Gly1148=) c.1762G= (p.Gly588=) | dbSNP |