| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174748184G>A | CA430021763 | CHRNA1 | c.825C>T (p.Cys275=) c.1389C>T (p.Cys463=) c.1314C>T (p.Cys438=) c.1074C>T (p.Cys358=) c.1068C>T (p.Cys356=) c.*958C>T (n.*958C>T) c.1410C>T (p.Cys470=) c.1335C>T (p.Cys445=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174748184G>C | CA258189 | CHRNA1 | c.825C>G (p.Cys275Trp) c.1389C>G (p.Cys463Trp) c.1314C>G (p.Cys438Trp) c.1074C>G (p.Cys358Trp) c.1068C>G (p.Cys356Trp) c.*958C>G (n.*958C>G) c.1410C>G (p.Cys470Trp) c.1335C>G (p.Cys445Trp) | ClinVar dbSNP |
| 2 | g.174748184G= | CA1308831766 | CHRNA1 | c.825C= (p.Cys275=) c.1389C= (p.Cys463=) c.1314C= (p.Cys438=) c.1074C= (p.Cys358=) c.1068C= (p.Cys356=) c.*958C= (n.*958C=) c.1410C= (p.Cys470=) c.1335C= (p.Cys445=) | dbSNP |