Samples with Characterized Mutations
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| Records Return:
(21)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM01662 | Fibroblast | | | | | | | EX2-3DUP, IVS1DEL |
| GM01899 | B-Lymphocyte | | | | | | exon 9 deleted | EX9DEL |
| GM02227 | Fibroblast | | | | | | | INV/DEL, EX6-9 |
| GM03467 | Fibroblast | | | | | | exon 9 deleted | EX9DEL |
| GM06804 | B-Lymphocyte | | | | | | | EX2-3DUP, IVS1DEL |
| GM07092 | B-Lymphocyte | | | | | | | EX8DEL |
| GM12010 | B-Lymphocyte | | G>A | | R>K | 44 | R44K | ARG44LYS |
| GM12011 | B-Lymphocyte | | A>G | | H>R | 203 | H203R | HIS203ASP |
| GM12012 | B-Lymphocyte | | G>A | | G>E | 39 | G39E | GLY39GLU |
| GM20392 | Fibroblast | | T>G | 23 | V>G | 8 | V8G | VAL8GLY |
| GM20393 | Fibroblast | | A>G | 140 | E>G | 47 | E47G | GLU47GLY |
| GM20394 | Fibroblast | | | | | | exon 1 deleted | EX1DEL |
| GM20395 | Fibroblast | | T>A; insA | 428; 423_433 | M>K | 144 | M144K; fsX155 | MET144LYS; InsA423_2_433 |
| GM20396 | Fibroblast | | G>A | 601 | D>N | 201 | D201N | ASP201ASN |
| GM20397 | Fibroblast | | G>A | 143 | R>H | 48 | R48H | ARG48HIS |
| GM20398 | Fibroblast | | G>C | 580 | D>H | 194 | D194H | ASP194HIS |
| GM23784 | Fibroblast | 7 | G>A | IVS7+5 | | | | IVS7DS, G-A, +5 |
| GM23785 | Fibroblast | 7 | G>A | IVS7+5 | | | | IVS7DS, G-A, +5 |
| GM23814 | Fibroblast | | G>A | 143 | R>H | 48 | R48H | ARG48HIS |
| GM23837 | Fibroblast | | G>T | 500 | R>M | 167 | R167M | ARG167MET |
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