| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753570G>C | CA258177 | CHRNA1 | c.222C>G (p.Asn74Lys) c.786C>G (p.Asn262Lys) c.711C>G (p.Asn237Lys) c.465C>G (p.Asn155Lys) c.*355C>G (n.*355C>G) c.807C>G (p.Asn269Lys) c.732C>G (p.Asn244Lys) | ClinVar dbSNP |
| 2 | g.174753570G>A | CA1974489 | CHRNA1 | c.222C>T (p.Asn74=) c.786C>T (p.Asn262=) c.711C>T (p.Asn237=) c.465C>T (p.Asn155=) c.*355C>T (n.*355C>T) c.807C>T (p.Asn269=) c.732C>T (p.Asn244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753570G>T | CA349339147 | CHRNA1 | c.222C>A (p.Asn74Lys) c.786C>A (p.Asn262Lys) c.711C>A (p.Asn237Lys) c.465C>A (p.Asn155Lys) c.*355C>A (n.*355C>A) c.807C>A (p.Asn269Lys) c.732C>A (p.Asn244Lys) | ClinVar dbSNP |