| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117652877C>G | CA340641 | CFTR | c.*118C>G (n.*118C>G) c.*3623C>G (n.*3623C>G) c.3726C>G (p.Asn1242Lys) c.*122C>G (n.*122C>G) c.*562C>G (n.*562C>G) c.3909C>G (p.Asn1303Lys) c.*570C>G (n.*570C>G) c.*2284C>G (n.*2284C>G) c.3903C>G (p.Asn1301Lys) c.*3733C>G (n.*3733C>G) c.3483C>G (p.Asn1161Lys) n.2077C>G c.773C>G (n.773C>G) c.1696C>G (n.1696C>G) c.491C>G c.1359C>G c.3819C>G (p.Asn1273Lys) c.35C>G c.3999C>G (p.Asn1333Lys) c.3666C>G (p.Asn1222Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117652877C= | CA1737411167 | CFTR | c.*118C= (n.*118C=) c.*3623C= (n.*3623C=) c.3726C= (p.Asn1242=) c.*122C= (n.*122C=) c.*562C= (n.*562C=) c.3909C= (p.Asn1303=) c.*570C= (n.*570C=) c.*2284C= (n.*2284C=) c.3903C= (p.Asn1301=) c.*3733C= (n.*3733C=) c.3483C= (p.Asn1161=) n.2077C= c.773C= (n.773C=) c.1696C= (n.1696C=) c.491C= c.1359C= c.3819C= (p.Asn1273=) c.35C= c.3999C= (p.Asn1333=) c.3666C= (p.Asn1222=) | dbSNP |
| 7 | g.117652877C>T | CA457229856 | CFTR | c.*118C>T (n.*118C>T) c.*3623C>T (n.*3623C>T) c.3726C>T (p.Asn1242=) c.*122C>T (n.*122C>T) c.*562C>T (n.*562C>T) c.3909C>T (p.Asn1303=) c.*570C>T (n.*570C>T) c.*2284C>T (n.*2284C>T) c.3903C>T (p.Asn1301=) c.*3733C>T (n.*3733C>T) c.3483C>T (p.Asn1161=) n.2077C>T c.773C>T (n.773C>T) c.1696C>T (n.1696C>T) c.491C>T c.1359C>T c.3819C>T (p.Asn1273=) c.35C>T c.3999C>T (p.Asn1333=) c.3666C>T (p.Asn1222=) | ClinVar dbSNP |