| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227295035G>T | CA351680 | COL4A3,MFF-DT | c.3490G>T (p.Gly1164Cys) n.243+10425C>A c.3385G>T (p.Gly1129Cys) c.2251G>T (p.Gly751Cys) n.3628G>T | ClinVar dbSNP |
| 2 | g.227295035G= | CA1332856173 | COL4A3,MFF-DT | c.3490G= (p.Gly1164=) n.243+10425C= c.3385G= (p.Gly1129=) c.2251G= (p.Gly751=) n.3628G= | dbSNP |