| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227303867G>T | CA2147412 | COL4A3,MFF-DT | n.382G>T c.3964G>T (p.Gly1322Cys) n.627G>T n.243+1593C>A c.3859G>T (p.Gly1287Cys) c.2725G>T (p.Gly909Cys) n.4102G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227303867G>A | CA236124 | COL4A3,MFF-DT | n.382G>A c.3964G>A (p.Gly1322Ser) n.627G>A n.243+1593C>T c.3859G>A (p.Gly1287Ser) c.2725G>A (p.Gly909Ser) n.4102G>A | ClinVar dbSNP |