Samples with Characterized Mutations
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(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM02359 | Fibroblast | | C>T | 1117 | V>X | 372 | V372X | VAL372TER |
| GM02449 | B-Lymphocyte | | ins1 | 1078 | | 359 | Asn359fs | 1078insG |
| GM03053 | Fibroblast | | C>T | 376 | V>X | 125 | V125X | VAL125TER |
| GM03055 | Fibroblast | | C>T | 376 | V>X | 125 | V125X | VAL125TER |
| GM03379 | Fibroblast | | del104 | 661_764 | K220fs | 220 | Lys220fs | 104 BP DEL, NT661 |
| GM03617 | Fibroblast | | del13 | 104_116 [alternately published as 343_355] | | 35 | Ala35fs | 13 BP DEL, NT 343 |
| GM03618 | Fibroblast | | del1 | 207 | K69fs | 69 | Lys69fs | 1 BP DEL, 207G |
| GM03618 | Fibroblast | | del3 | 222_224 | del Leu | 75 | del L75 | 3 BP DEL, NT222 |
| GM06090 | Fibroblast | | C>T | 67 | E>X | 22 | E22X | GLU22TER |
| GM13155 | Fibroblast | | | | | | | c.764+1G>C |
| GM14875 | Fibroblast | | | | | | | c.454C>T (p.Gln152Ter) |
| GM15697 | Fibroblast | | | | | | | c.454C>T (p.Gln152Ter) |
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