| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652875A>C | CA325604 | CFTR | c.*116A>C (n.*116A>C) c.*3621A>C (n.*3621A>C) c.3724A>C (p.Asn1242His) c.*120A>C (n.*120A>C) c.*560A>C (n.*560A>C) c.3907A>C (p.Asn1303His) c.*568A>C (n.*568A>C) c.*2282A>C (n.*2282A>C) c.3901A>C (p.Asn1301His) c.*3731A>C (n.*3731A>C) c.3481A>C (p.Asn1161His) n.2075A>C c.771A>C (n.771A>C) c.1694A>C (n.1694A>C) c.489A>C c.1357A>C c.3817A>C (p.Asn1273His) c.33A>C c.3997A>C (p.Asn1333His) c.3664A>C (p.Asn1222His) | ClinVar dbSNP |
| 7 | g.117652875A>T | CA368978217 | CFTR | c.*116A>T (n.*116A>T) c.*3621A>T (n.*3621A>T) c.3724A>T (p.Asn1242Tyr) c.*120A>T (n.*120A>T) c.*560A>T (n.*560A>T) c.3907A>T (p.Asn1303Tyr) c.*568A>T (n.*568A>T) c.*2282A>T (n.*2282A>T) c.3901A>T (p.Asn1301Tyr) c.*3731A>T (n.*3731A>T) c.3481A>T (p.Asn1161Tyr) n.2075A>T c.771A>T (n.771A>T) c.1694A>T (n.1694A>T) c.489A>T c.1357A>T c.3817A>T (p.Asn1273Tyr) c.33A>T c.3997A>T (p.Asn1333Tyr) c.3664A>T (p.Asn1222Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |