| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611743T>G | CA327137 | CFTR | c.3302T>G (p.Met1101Arg) c.*3016T>G (n.*3016T>G) c.3119T>G (p.Met1040Arg) c.*1602T>G (n.*1602T>G) c.*3126T>G (n.*3126T>G) c.2876T>G (p.Met959Arg) c.50T>G (p.Met17Arg) c.893T>G (p.Met298Arg) c.952T>G c.2084T>G (p.Met695Arg) c.3212T>G (p.Met1071Arg) c.127T>G c.3392T>G (p.Met1131Arg) c.3059T>G (p.Met1020Arg) | ClinVar dbSNP |
| 7 | g.117611743T>A | CA221025 | CFTR | c.3302T>A (p.Met1101Lys) c.*3016T>A (n.*3016T>A) c.3119T>A (p.Met1040Lys) c.*1602T>A (n.*1602T>A) c.*3126T>A (n.*3126T>A) c.2876T>A (p.Met959Lys) c.50T>A (p.Met17Lys) c.893T>A (p.Met298Lys) c.952T>A c.2084T>A (p.Met695Lys) c.3212T>A (p.Met1071Lys) c.127T>A c.3392T>A (p.Met1131Lys) c.3059T>A (p.Met1020Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611743T= | CA1737387457 | CFTR | c.3302T= (p.Met1101=) c.*3016T= (n.*3016T=) c.3119T= (p.Met1040=) c.*1602T= (n.*1602T=) c.*3126T= (n.*3126T=) c.2876T= (p.Met959=) c.50T= (p.Met17=) c.893T= (p.Met298=) c.952T= c.2084T= (p.Met695=) c.3212T= (p.Met1071=) c.127T= c.3392T= (p.Met1131=) c.3059T= (p.Met1020=) | dbSNP |