Samples with Characterized Mutations
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(21)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM22010 | B-Lymphocyte | | | | | G216 | | G216fs |
| GM22011 | B-Lymphocyte | | | | | G216 | | G216fs |
| GM22012 | B-Lymphocyte | | | | | G216 | | G216fs |
| GM22025 | B-Lymphocyte | | del1 | 1204 | | 402 | Ala402fs | 1204delG |
| GM22025 | B-Lymphocyte | | G>A | 335 | G>D | 112 | G112D | GLY112ASP |
| GM22030 | B-Lymphocyte | | del2 | 1172_1173 | | | | 1172_1173delTT |
| GM22112 | B-Lymphocyte | | 1218_1231del insTAGAGCACAGGA | 1218 | G406fs | 406 | Gly406fs | 12-BP INS, 14-BP DEL, NT1218 |
| GM22113 | B-Lymphocyte | | 1218_1231del insTAGAGCACAGGA | 1218 | G406fs | 406 | Gly406fs | 12-BP INS, 14-BP DEL, NT1218 |
| GM22123 | B-Lymphocyte | | T>C | 1172 | F>S | 391 | F391S | PHE391SER |
| GM22123 | B-Lymphocyte | | C>T | 377 | R>X | 113 | R113X | ARG113TER |
| GM22208 | B-Lymphocyte | | | | K>R | 298 | K298R | LYS298ARG |
| GM22208 | B-Lymphocyte | | | | | | deletion of exons 13-20 | DEL EX13-20 |
| GM22366 | B-Lymphocyte | | G>A | 667 | E>K | 233 | E233K | GLU233LYS |
| GM22366 | B-Lymphocyte | | G>T | 1355 | G>V | 452 | G452V | GLY452VAL |
| GM22496 | B-Lymphocyte | | 1218_1231del insTAGAGCACAGGA | 1218 | G406fs | 406 | Gly406fs | 12-BP INS, 14-BP DEL, NT1218 |
| GM22555 | B-Lymphocyte | | del1 | 1209+2 | | | | 1209+2delT |
| GM22555 | B-Lymphocyte | | A>G | 1606 | N>D | 536 | N536D | ASN536ASP |
| GM22581 | B-Lymphocyte | | del1 | 418 | | H140 | H140fs | 418delC |
| GM22581 | B-Lymphocyte | | del3 | 1593_1595 | del | L532 | L532del | 1593_1595delATT |
| GM23221 | B-Lymphocyte | | | | R>C | 243 | R243C | ARG243CYS |
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