| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642457C>G | CA368974483 | CFTR | c.3537C>G (p.Asn1179Lys) c.*3451C>G (n.*3451C>G) c.3554C>G (p.Thr1185Ser) c.3737C>G (p.Thr1246Ser) c.*390C>G (n.*390C>G) c.*398C>G (n.*398C>G) c.*2112C>G (n.*2112C>G) c.3731C>G (p.Thr1244Ser) c.*3561C>G (n.*3561C>G) c.3311C>G (p.Thr1104Ser) c.485C>G (p.Thr162Ser) c.1524C>G (n.1524C>G) c.319C>G c.1187C>G c.3647C>G (p.Thr1216Ser) c.3827C>G (p.Thr1276Ser) c.3494C>G (p.Thr1165Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642457C>T | CA327268 | CFTR | c.3537C>T (p.Asn1179=) c.*3451C>T (n.*3451C>T) c.3554C>T (p.Thr1185Ile) c.3737C>T (p.Thr1246Ile) c.*390C>T (n.*390C>T) c.*398C>T (n.*398C>T) c.*2112C>T (n.*2112C>T) c.3731C>T (p.Thr1244Ile) c.*3561C>T (n.*3561C>T) c.3311C>T (p.Thr1104Ile) c.485C>T (p.Thr162Ile) c.1524C>T (n.1524C>T) c.319C>T c.1187C>T c.3647C>T (p.Thr1216Ile) c.3827C>T (p.Thr1276Ile) c.3494C>T (p.Thr1165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |