| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227273090G>A | CA16609438 | COL4A3,MFF-DT | c.1900G>A (p.Gly634Arg) n.423-4321C>T c.661G>A (p.Gly221Arg) n.2038G>A | ClinVar dbSNP |
| 2 | g.227273090G>T | CA350845024 | COL4A3,MFF-DT | c.1900G>T (p.Gly634Ter) n.423-4321C>A c.661G>T (p.Gly221Ter) n.2038G>T | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.227273090G= | CA1332846449 | COL4A3,MFF-DT | c.1900G= (p.Gly634=) n.423-4321C= c.661G= (p.Gly221=) n.2038G= | dbSNP |