Samples with Characterized Mutations
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| Records Return:
(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM25335 | B-Lymphocyte | | G>A | | GGC>GAC | 253 | Substitution | GLY253ASP |
| GM25336 | Fibroblast | | G>A | | GGC>GAC | 253 | Substitution | GLY253ASP |
| GM26114 | B-Lymphocyte | | G>A | 79 | D>N; ASP>ASN | 27 | | ASP27ASN |
| GM26234 | B-Lymphocyte | | T>A | | | | p.F3541 | c.1060T>A |
| GM26267 | B-Lymphocyte | | c.644A>T | 644 | | 5 | | c.644A>T |
| GM26267 | B-Lymphocyte | | delGC | 285_286 | | | p.Glu95Aspfs*32 | c.285_286delGC |
| GM27144 | B-Lymphocyte | | | | | | p.Pro72Arg | c.215C>G |
| GM27145 | Fibroblast | | | | | | p.Pro72Arg | c.215C>G |
| GM27890 | B-Lymphocyte | | A>G | 448 | | | p.Thr150Ala | c.448A>G |
| GM28910 | | | A>G | 448 | | | p.Thr150Ala | c.448A>G |
| GM29194 | Stem cell | | c.644A>T | 644 | | 5 | | c.644A>T |
| GM29194 | Stem cell | | delGC | 285_286 | | | p.Glu95Aspfs*32 | c.285_286delGC |
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