| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152385791A>C | CA16605481 | SYNE1 | c.8535T>G (p.Tyr2845Ter) c.8556T>G (p.Tyr2852Ter) c.8601T>G (p.Tyr2867Ter) n.8753T>G c.8505T>G (p.Tyr2835Ter) c.8484T>G (p.Tyr2828Ter) c.8397T>G (p.Tyr2799Ter) c.8391T>G (p.Tyr2797Ter) c.6831T>G (p.Tyr2277Ter) c.6324T>G (p.Tyr2108Ter) c.1791T>G (p.Tyr597Ter) c.8529T>G (p.Tyr2843Ter) c.8478T>G (p.Tyr2826Ter) n.9039T>G | ClinVar dbSNP |
| 6 | g.152385791A>G | CA452764515 | SYNE1 | c.8535T>C (p.Tyr2845=) c.8556T>C (p.Tyr2852=) c.8601T>C (p.Tyr2867=) n.8753T>C c.8505T>C (p.Tyr2835=) c.8484T>C (p.Tyr2828=) c.8397T>C (p.Tyr2799=) c.8391T>C (p.Tyr2797=) c.6831T>C (p.Tyr2277=) c.6324T>C (p.Tyr2108=) c.1791T>C (p.Tyr597=) c.8529T>C (p.Tyr2843=) c.8478T>C (p.Tyr2826=) n.9039T>C | dbSNP gnomAD v4 |