| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152140027C>T | CA115488 | SYNE1 | c.1915G>A (p.Glu639Lys) c.25381G>A (p.Glu8461Lys) c.25237G>A (p.Glu8413Lys) c.783G>A c.1116G>A c.1025G>A c.1153G>A (p.Glu385Lys) c.24166G>A (p.Glu8056Lys) n.2129G>A c.4216G>A (p.Glu1406Lys) n.9073G>A c.3319G>A (p.Glu1107Lys) n.8965G>A n.1995G>A n.4403G>A n.2218G>A c.1846G>A (p.Glu616Lys) c.25486G>A (p.Glu8496Lys) c.25474G>A (p.Glu8492Lys) c.25465G>A (p.Glu8489Lys) c.25435G>A (p.Glu8479Lys) c.25471G>A (p.Glu8491Lys) c.25417G>A (p.Glu8473Lys) c.25414G>A (p.Glu8472Lys) c.25402G>A (p.Glu8468Lys) c.25345G>A (p.Glu8449Lys) c.25333G>A (p.Glu8445Lys) c.25330G>A (p.Glu8444Lys) c.25327G>A (p.Glu8443Lys) c.25483G>A (p.Glu8495Lys) c.25321G>A (p.Glu8441Lys) c.23761G>A (p.Glu7921Lys) c.23254G>A (p.Glu7752Lys) c.18721G>A (p.Glu6241Lys) c.1987G>A (p.Glu663Lys) c.25459G>A (p.Glu8487Lys) c.25408G>A (p.Glu8470Lys) c.25261G>A (p.Glu8421Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152140027C= | CA1673206260 | SYNE1 | c.1915G= (p.Glu639=) c.25381G= (p.Glu8461=) c.25237G= (p.Glu8413=) c.783G= c.1116G= c.1025G= c.1153G= (p.Glu385=) c.24166G= (p.Glu8056=) n.2129G= c.4216G= (p.Glu1406=) n.9073G= c.3319G= (p.Glu1107=) n.8965G= n.1995G= n.4403G= n.2218G= c.1846G= (p.Glu616=) c.25486G= (p.Glu8496=) c.25474G= (p.Glu8492=) c.25465G= (p.Glu8489=) c.25435G= (p.Glu8479=) c.25471G= (p.Glu8491=) c.25417G= (p.Glu8473=) c.25414G= (p.Glu8472=) c.25402G= (p.Glu8468=) c.25345G= (p.Glu8449=) c.25333G= (p.Glu8445=) c.25330G= (p.Glu8444=) c.25327G= (p.Glu8443=) c.25483G= (p.Glu8495=) c.25321G= (p.Glu8441=) c.23761G= (p.Glu7921=) c.23254G= (p.Glu7752=) c.18721G= (p.Glu6241=) c.1987G= (p.Glu663=) c.25459G= (p.Glu8487=) c.25408G= (p.Glu8470=) c.25261G= (p.Glu8421=) | dbSNP |