| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108665561G>A | CA255260 | COL4A5 | c.3428G>A (p.Gly1143Asp) c.3104G>A (p.Gly1035Asp) c.1001G>A (p.Gly334Asp) c.3443G>A (p.Gly1148Asp) c.1763G>A (p.Gly588Asp) | ClinVar dbSNP |
| X | g.108665561G= | CA2450711992 | COL4A5 | c.3428G= (p.Gly1143=) c.3104G= (p.Gly1035=) c.1001G= (p.Gly334=) c.3443G= (p.Gly1148=) c.1763G= (p.Gly588=) | dbSNP |