From: Folliculin mutations are not associated with severe COPD
Name | Location | Effect | Disease | Sequence |
---|---|---|---|---|
c.235_238delTCGG [8] | Exon 4 | Frame shift | FSP | GCAGCCCGGGGCCCAAAAAG [TCGG/-] ACATGTGCGAGGCAAGTGTC |
Exon 7 | Frame shift | BHD | GCATTTCAGGTGTTTGAGGC [AG/C]AGCAGTTTGGATGCCCACAG | |
Exon 9 | Frame shift | BHD | CTCTGAGGCTGAAGAGGAGG [AGAAAGCCCCTGTGTTGCCAGAGAGTAC/++]AGAAAGCCCCTGTGTTGCCA | |
c.943G>T [7] | Exon 9 | p.Glu315X | FSP | AGAAAGCCCCTGTGTTGCCA [G/T]AGAGTACAGAAGGGCGGGAG |
Exon 11 | Frame shift | BHD | GCACGTGCAGATCCCCCCCC [-/C] ACGTGCTCTCCTCAGGTGCG | |
Exon 11 | Frame shift | BHD | CGCACGTGCAGATCCCCCCC [C/-] ACGTGCTCTCCTCAGGTGCG | |
Exon 12 | p.Arg477X | FSP/BHD | GGAGCCCTGTAGCTGCAGAC [C/T] GAGGTGGGTGCCCCCAGGCA |