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| 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) |
| GM29965 | B-Lymphocyte | | G>A | 601 | | | A601T | c.1801 G>A p.(A601T) |
| GM29965 | B-Lymphocyte | | G>A | 638 | | | G213E | c.638 G>A p.(G213E) |
| GM29965 | B-Lymphocyte | | ACG>ATG | 5885 | | 1962 | Thr1962Met | c.5885 C>T p.(Thr1962Met) |
| GM29965 | B-Lymphocyte | | TTT>GTT | 562 | | | Phe188Val | c.562 T>G p.(F188V) |
| GM29965 | B-Lymphocyte | 4 | | 550-551 | | | | c.550-1 G>A p.? |
| GM29966 | Fibroblast | | G>A | 601 | | | A601T | c.1801 G>A p.(A601T) |
| GM29966 | Fibroblast | | G>A | 638 | | | G213E | c.638 G>A p.(G213E) |
| GM29966 | Fibroblast | | ACG>ATG | 5885 | | 1962 | Thr1962Met | c.5885 C>T p.(Thr1962Met) |
| GM29966 | Fibroblast | | TTT>GTT | 562 | | | Phe188Val | c.562 T>G p.(F188V) |
| GM29966 | Fibroblast | 4 | | 550-551 | | | | c.550-1 G>A p.? |