| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227028004C>G | CA350837136 | COL4A4 | c.3979G>C (p.Val1327Leu) c.3424G>C (p.Val1142Leu) c.3898G>C (p.Val1300Leu) c.3871G>C (p.Val1291Leu) c.2305G>C (p.Val769Leu) n.4289G>C c.3862G>C (p.Val1288Leu) n.4305G>C | dbSNP |
| 2 | g.227028004C>T | CA236424 | COL4A4 | c.3979G>A (p.Val1327Met) c.3424G>A (p.Val1142Met) c.3898G>A (p.Val1300Met) c.3871G>A (p.Val1291Met) c.2305G>A (p.Val769Met) n.4289G>A c.3862G>A (p.Val1288Met) n.4305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227028004C>A | CA350837135 | COL4A4 | c.3979G>T (p.Val1327Leu) c.3424G>T (p.Val1142Leu) c.3898G>T (p.Val1300Leu) c.3871G>T (p.Val1291Leu) c.2305G>T (p.Val769Leu) n.4289G>T c.3862G>T (p.Val1288Leu) n.4305G>T | dbSNP gnomAD v4 |
| 2 | g.227028004C= | CA1332732946 | COL4A4 | c.3979G= (p.Val1327=) c.3424G= (p.Val1142=) c.3898G= (p.Val1300=) c.3871G= (p.Val1291=) c.2305G= (p.Val769=) n.4289G= c.3862G= (p.Val1288=) n.4305G= | dbSNP |