| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603708C>T | CA345314 | CFTR | c.2834C>T (p.Ser945Leu) c.*2548C>T (n.*2548C>T) c.2651C>T (p.Ser884Leu) c.*1134C>T (n.*1134C>T) c.*2658C>T (n.*2658C>T) c.2408C>T (p.Ser803Leu) c.425C>T (p.Ser142Leu) c.484C>T c.1616C>T (p.Ser539Leu) c.2744C>T (p.Ser915Leu) c.2924C>T (p.Ser975Leu) c.2591C>T (p.Ser864Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603708C= | CA1737375279 | CFTR | c.2834C= (p.Ser945=) c.*2548C= (n.*2548C=) c.2651C= (p.Ser884=) c.*1134C= (n.*1134C=) c.*2658C= (n.*2658C=) c.2408C= (p.Ser803=) c.425C= (p.Ser142=) c.484C= c.1616C= (p.Ser539=) c.2744C= (p.Ser915=) c.2924C= (p.Ser975=) c.2591C= (p.Ser864=) | dbSNP |
| 7 | g.117603708C>A | CA368987143 | CFTR | c.2834C>A (p.Ser945Ter) c.*2548C>A (n.*2548C>A) c.2651C>A (p.Ser884Ter) c.*1134C>A (n.*1134C>A) c.*2658C>A (n.*2658C>A) c.2408C>A (p.Ser803Ter) c.425C>A (p.Ser142Ter) c.484C>A c.1616C>A (p.Ser539Ter) c.2744C>A (p.Ser915Ter) c.2924C>A (p.Ser975Ter) c.2591C>A (p.Ser864Ter) | dbSNP gnomAD v4 |