| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559592_117559594del | CA118639 | CFTR,CFTR-AS1 | c.1521_1523del (p.Phe508del) c.*1235_*1237del (n.*1235_*1237del) c.1338_1340del (p.Phe447del) c.*79_*81del (n.*79_*81del) c.*1345_*1347del (n.*1345_*1347del) c.1095_1097del (p.Phe366del) c.1431_1433del (p.Phe478del) c.1611_1613del (p.Phe538del) c.1278_1280del (p.Phe427del) n.221+1140_221+1142del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117559592_117559594dup | CA1737384675 | CFTR,CFTR-AS1 | c.1521_1523dup (p.Phe508_Gly509insPhe) c.*1235_*1237dup (n.*1235_*1237dup) c.1338_1340dup (p.Phe447_Gly448insPhe) c.*79_*81dup (n.*79_*81dup) c.*1345_*1347dup (n.*1345_*1347dup) c.1095_1097dup (p.Phe366_Gly367insPhe) c.1431_1433dup (p.Phe478_Gly479insPhe) c.1611_1613dup (p.Phe538_Gly539insPhe) c.1278_1280dup (p.Phe427_Gly428insPhe) n.221+1140_221+1142dup | dbSNP |