| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642528G>A | CA254112 | CFTR | c.*17G>A (n.*17G>A) c.*3522G>A (n.*3522G>A) c.3625G>A (p.Asp1209Asn) c.3808G>A (p.Asp1270Asn) c.*461G>A (n.*461G>A) c.*469G>A (n.*469G>A) c.*2183G>A (n.*2183G>A) c.3802G>A (p.Asp1268Asn) c.*3632G>A (n.*3632G>A) c.3382G>A (p.Asp1128Asn) c.556G>A (p.Asp186Asn) c.1595G>A (n.1595G>A) c.390G>A c.1258G>A c.3718G>A (p.Asp1240Asn) c.3898G>A (p.Asp1300Asn) c.3565G>A (p.Asp1189Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642528G>T | CA327294 | CFTR | c.*17G>T (n.*17G>T) c.*3522G>T (n.*3522G>T) c.3625G>T (p.Asp1209Tyr) c.3808G>T (p.Asp1270Tyr) c.*461G>T (n.*461G>T) c.*469G>T (n.*469G>T) c.*2183G>T (n.*2183G>T) c.3802G>T (p.Asp1268Tyr) c.*3632G>T (n.*3632G>T) c.3382G>T (p.Asp1128Tyr) c.556G>T (p.Asp186Tyr) c.1595G>T (n.1595G>T) c.390G>T c.1258G>T c.3718G>T (p.Asp1240Tyr) c.3898G>T (p.Asp1300Tyr) c.3565G>T (p.Asp1189Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |