| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM29051 | Fibroblast | | | | | | | c.1499G>A (p.Arg500His) |
| GM29051 | Fibroblast | | dup | 563_5 | dup | 192 | Trp > STOP | c.563_5/2dup (p.Trp192*) |
| GM29052 | Fibroblast | | | | | | | c.545G>A (p.R182G) |
| GM29071 | Fibroblast | | dup | 563_5 | dup | 192 | Trp > STOP | c.563_5/2dup (p.Trp192*) |
| GM29359 | Fibroblast | | deletion | 1540 - 1541 | | 514 | | c.1540-1541del (p.Val514Cysfs*10) |
| GM29359 | Fibroblast | | deletion | 2352 - 2356 | | 785 | | C.2352_2356del (p.Thr785Leufs*27) |
| GM29360 | Fibroblast | | deletion | 1540 - 1541 | | 514 | | c.1540-1541del (p.Val514Cysfs*10) |
| GM29360 | Fibroblast | | deletion | 2352 - 2356 | | 785 | | C.2352_2356del (p.Thr785Leufs*27) |
| GM29361 | B-Lymphocyte | | deletion | 1540 - 1541 | | 514 | | c.1540-1541del (p.Val514Cysfs*10) |
| GM29361 | B-Lymphocyte | | deletion | 2352 - 2356 | | 785 | | C.2352_2356del (p.Thr785Leufs*27) |