Samples with Characterized Mutations
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(24)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM23651 | Fibroblast | | dup1 | 713 | | | p.Asn238Lysfs*63 | 713dupA (c.713_714Ins) |
| GM23674 | B-Lymphocyte | | dup1 | 713 | | | p.Asn238Lysfs*63 | 713dupA (c.713_714Ins) |
| GM24467 | Fibroblast | | G deletion | 142 | | | Frameshift | c.142delG |
| GM24467 | Fibroblast | | G>A | 943 | | | p.GLy315Ser | c.943G>A |
| GM27104 | B-Lymphocyte | | | | | | p.Met1Val | c.1A>G |
| GM27104 | B-Lymphocyte | | G>A | 943 | | | p.GLy315Ser | c.943G>A |
| GM27105 | B-Lymphocyte | | | | | | p.Met1Val | c.1A>G |
| GM27106 | B-Lymphocyte | | | | | | p.Met1Val | c.1A>G |
| GM27115 | B-Lymphocyte | | | | | | | c.-11_c.81del192 |
| GM27115 | B-Lymphocyte | | G>A | 943 | | | p.GLy315Ser | c.943G>A |
| GM27118 | B-Lymphocyte | | | | | | | c.1282-2A>C |
| GM27118 | B-Lymphocyte | | | | | | | c.1282-41C>T |
| GM27120 | B-Lymphocyte | | dup1 | 713 | | | p.Asn238Lysfs*63 | 713dupA (c.713_714Ins) |
| GM27120 | B-Lymphocyte | | G>A | 1397 | Asn>Lysfs*63 | 238 | p.Asn238Lysfs*63 | c.1397G>A (p.Asn238Lysfs*63) |
| GM27122 | B-Lymphocyte | | dup1 | 713 | | | p.Asn238Lysfs*63 | 713dupA (c.713_714Ins) |
| GM27127 | B-Lymphocyte | | | | | | | c.1406G>A |
| GM27127 | B-Lymphocyte | | | | | | | c.802c>t |
| GM27139 | B-Lymphocyte | | G>C | 1359 | TGG>TGC | 453 | p.Trp453Cys (W453C) | c.1359 G>C (W453C) |
| GM27139 | B-Lymphocyte | | | | fsX93 | 93 | premature stop | c.1421_1422insC |
| GM27142 | B-Lymphocyte | | G>C | 1359 | TGG>TGC | 453 | p.Trp453Cys (W453C) | c.1359 G>C (W453C) |
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