| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227273117G>A | CA2146789 | COL4A3,MFF-DT | c.1927G>A (p.Gly643Ser) n.423-4348C>T c.688G>A (p.Gly230Ser) n.2065G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.227273117G= | CA1332846465 | COL4A3,MFF-DT | c.1927G= (p.Gly643=) n.423-4348C= c.688G= (p.Gly230=) n.2065G= | dbSNP |