| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117627537C>T | CA340642 | CFTR | c.3484C>T (p.Arg1162Ter) c.*3198C>T (n.*3198C>T) c.3301C>T (p.Arg1101Ter) c.*137C>T (n.*137C>T) c.*145C>T (n.*145C>T) c.*1859C>T (n.*1859C>T) c.3478C>T (p.Arg1160Ter) c.*3308C>T (n.*3308C>T) c.3058C>T (p.Arg1020Ter) c.232C>T (p.Arg78Ter) c.1271C>T (n.1271C>T) c.66C>T c.1134C>T c.2266C>T (p.Arg756Ter) c.3394C>T (p.Arg1132Ter) c.309C>T c.3574C>T (p.Arg1192Ter) c.3241C>T (p.Arg1081Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117627537C= | CA1737398608 | CFTR | c.3484C= (p.Arg1162=) c.*3198C= (n.*3198C=) c.3301C= (p.Arg1101=) c.*137C= (n.*137C=) c.*145C= (n.*145C=) c.*1859C= (n.*1859C=) c.3478C= (p.Arg1160=) c.*3308C= (n.*3308C=) c.3058C= (p.Arg1020=) c.232C= (p.Arg78=) c.1271C= (n.1271C=) c.66C= c.1134C= c.2266C= (p.Arg756=) c.3394C= (p.Arg1132=) c.309C= c.3574C= (p.Arg1192=) c.3241C= (p.Arg1081=) | dbSNP |
| 7 | g.117627537C>G | CA368996002 | CFTR | c.3484C>G (p.Arg1162Gly) c.*3198C>G (n.*3198C>G) c.3301C>G (p.Arg1101Gly) c.*137C>G (n.*137C>G) c.*145C>G (n.*145C>G) c.*1859C>G (n.*1859C>G) c.3478C>G (p.Arg1160Gly) c.*3308C>G (n.*3308C>G) c.3058C>G (p.Arg1020Gly) c.232C>G (p.Arg78Gly) c.1271C>G (n.1271C>G) c.66C>G c.1134C>G c.2266C>G (p.Arg756Gly) c.3394C>G (p.Arg1132Gly) c.309C>G c.3574C>G (p.Arg1192Gly) c.3241C>G (p.Arg1081Gly) | dbSNP |