| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603574T>C | CA164959969 | CFTR | c.2700T>C (p.Asn900=) c.*2414T>C (n.*2414T>C) c.2517T>C (p.Asn839=) c.*1000T>C (n.*1000T>C) c.*2524T>C (n.*2524T>C) c.2274T>C (p.Asn758=) c.291T>C (p.Asn97=) c.350T>C c.1482T>C (p.Asn494=) c.2610T>C (p.Asn870=) c.2790T>C (p.Asn930=) c.2457T>C (p.Asn819=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117603574T>A | CA273030 | CFTR | c.2700T>A (p.Asn900Lys) c.*2414T>A (n.*2414T>A) c.2517T>A (p.Asn839Lys) c.*1000T>A (n.*1000T>A) c.*2524T>A (n.*2524T>A) c.2274T>A (p.Asn758Lys) c.291T>A (p.Asn97Lys) c.350T>A c.1482T>A (p.Asn494Lys) c.2610T>A (p.Asn870Lys) c.2790T>A (p.Asn930Lys) c.2457T>A (p.Asn819Lys) | ClinVar dbSNP gnomAD v4 |