Samples with Characterized Mutations
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| Records Return:
(81)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM12604 | Fibroblast | | A>T | | D>V | 175 | D175V | ASP175VAL |
| GM23387 | B-Lymphocyte | | C>T | 829 | R>W | 277 | R277W | ARG277TRP |
| GM23388 | B-Lymphocyte | | C>T | 829 | R>W | 277 | R277W | ARG277TRP |
| GM23389 | B-Lymphocyte | | C>T | 829 | R>W | 277 | R277W | ARG277TRP |
| GM23390 | B-Lymphocyte | | C>T | 829 | R>W | 277 | R277W | ARG277TRP |
| GM23410 | B-Lymphocyte | | C>T | 67 | R>X | 23 | R23X | ARG23TER |
| GM23416 | B-Lymphocyte | | A>T | 587 | D>V | 196 | D196V | ASP196VAL |
| GM23419 | B-Lymphocyte | | C>T | 533 | T>M | 178 | T178M | THR178MET |
| GM23423 | B-Lymphocyte | | G>A | 422 | R>Q | 141 | R141Q | ARG141GLN |
| GM23427 | B-Lymphocyte | | | | | | | EX5 DEL |
| GM23429 | B-Lymphocyte | | C>T | 958 | R>X | 320 | R320X | ARG320TER |
| GM23431 | B-Lymphocyte | 6 | del1 | 663+1 | | | | IVS6+1delG |
| GM23439 | B-Lymphocyte | | C>T | 835 | Q>X | 279 | Q279X | GLN279TER |
| GM23441 | B-Lymphocyte | | T>C | | M>T | 213 | M213T | MET213THR |
| GM23455 | B-Lymphocyte | | C>T | | P>S | 347 | P347S | PRO347SER |
| GM23457 | B-Lymphocyte | | C>T | | P>S | 347 | P347S | PRO347SER |
| GM23464 | B-Lymphocyte | | A>T | 903 | L>F | 301 | L301F | LEU301PHE |
| GM23465 | B-Lymphocyte | | | | | | | OTC, DEL |
| GM23486 | B-Lymphocyte | | T>C | 284 | L>S | 95 | L95S | LEU95SER |
| GM23487 | B-Lymphocyte | | T>C | 284 | L>S | 95 | L95S | LEU95SER |
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