| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48567135C>A | CA16604943 | COL7A1 | c.8102G>T (p.Gly2701Val) n.229G>T n.4741G>T c.8129G>T (p.Gly2710Val) c.8069G>T (p.Gly2690Val) n.8165G>T c.8042G>T (p.Gly2681Val) n.8138G>T | ClinVar dbSNP |
| 3 | g.48567135C>T | CA352640427 | COL7A1 | c.8102G>A (p.Gly2701Glu) n.229G>A n.4741G>A c.8129G>A (p.Gly2710Glu) c.8069G>A (p.Gly2690Glu) n.8165G>A c.8042G>A (p.Gly2681Glu) n.8138G>A | dbSNP gnomAD v4 |
| 3 | g.48567135C= | CA1363075193 | COL7A1 | c.8102G= (p.Gly2701=) n.229G= n.4741G= c.8129G= (p.Gly2710=) c.8069G= (p.Gly2690=) n.8165G= c.8042G= (p.Gly2681=) n.8138G= | dbSNP |