| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622712G>T | CA413852648 | COL4A5 | c.2804G>T (p.Gly935Val) n.2260G>T c.37G>T c.2480G>T (p.Gly827Val) c.377G>T (p.Gly126Val) c.2819G>T (p.Gly940Val) c.1139G>T (p.Gly380Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108622712G>A | CA258766 | COL4A5 | c.2804G>A (p.Gly935Asp) n.2260G>A c.37G>A c.2480G>A (p.Gly827Asp) c.377G>A (p.Gly126Asp) c.2819G>A (p.Gly940Asp) c.1139G>A (p.Gly380Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108622712G= | CA2450696860 | COL4A5 | c.2804G= (p.Gly935=) n.2260G= c.37G= c.2480G= (p.Gly827=) c.377G= (p.Gly126=) c.2819G= (p.Gly940=) c.1139G= (p.Gly380=) | dbSNP |