| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117535326C>T | CA328131 | CFTR | c.658C>T (p.Gln220Ter) c.*555C>T (n.*555C>T) c.*482C>T (n.*482C>T) c.415C>T (p.Gln139Ter) c.568C>T (p.Gln190Ter) c.748C>T (p.Gln250Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117535326C= | CA1737362155 | CFTR | c.658C= (p.Gln220=) c.*555C= (n.*555C=) c.*482C= (n.*482C=) c.415C= (p.Gln139=) c.568C= (p.Gln190=) c.748C= (p.Gln250=) | dbSNP |
| 7 | g.117535326C>G | CA368976971 | CFTR | c.658C>G (p.Gln220Glu) c.*555C>G (n.*555C>G) c.*482C>G (n.*482C>G) c.415C>G (p.Gln139Glu) c.568C>G (p.Gln190Glu) c.748C>G (p.Gln250Glu) | dbSNP gnomAD v4 |