| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123695276G>T | CA279498 | TCTN2 | c.1291G>T (p.Glu431Ter) c.1288G>T (p.Glu430Ter) c.1156G>T (p.Glu386Ter) n.237G>T c.379G>T (p.Glu127Ter) c.1153G>T (p.Glu385Ter) | ClinVar dbSNP |
| 12 | g.123695276G= | CA2068975262 | TCTN2 | c.1291G= (p.Glu431=) c.1288G= (p.Glu430=) c.1156G= (p.Glu386=) n.237G= c.379G= (p.Glu127=) c.1153G= (p.Glu385=) | dbSNP |