| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227276469G>A | CA350846486 | COL4A3,MFF-DT | c.2012G>A (p.Gly671Asp) n.422+3014C>T c.773G>A (p.Gly258Asp) n.2150G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.227276469G= | CA1332847964 | COL4A3,MFF-DT | c.2012G= (p.Gly671=) n.422+3014C= c.773G= (p.Gly258=) n.2150G= | dbSNP |