| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227273108G>A | CA2146786 | COL4A3,MFF-DT | c.1918G>A (p.Gly640Arg) n.423-4339C>T c.679G>A (p.Gly227Arg) n.2056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.227273108G= | CA1332846460 | COL4A3,MFF-DT | c.1918G= (p.Gly640=) n.423-4339C= c.679G= (p.Gly227=) n.2056G= | dbSNP |