| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108602982G>A | CA258630 | COL4A5 | c.2165G>A (p.Gly722Glu) n.1621G>A c.1841G>A (p.Gly614Glu) c.-112G>A (n.-112G>A) c.2180G>A (p.Gly727Glu) c.500G>A (p.Gly167Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108602982G= | CA2450690287 | COL4A5 | c.2165G= (p.Gly722=) n.1621G= c.1841G= (p.Gly614=) c.-112G= (n.-112G=) c.2180G= (p.Gly727=) c.500G= (p.Gly167=) | dbSNP |
| X | g.108602982G>T | CA413847236 | COL4A5 | c.2165G>T (p.Gly722Val) n.1621G>T c.1841G>T (p.Gly614Val) c.-112G>T (n.-112G>T) c.2180G>T (p.Gly727Val) c.500G>T (p.Gly167Val) | ClinVar dbSNP |