Samples with Characterized Mutations
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(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM10283 | B-Lymphocyte | | | | | | | EX72-79DEL |
| GM23922 | B-Lymphocyte | | | | | | | IVS4-52ins316alu |
| GM23958 | B-Lymphocyte | | G>A | 1214 | | | | R405Q |
| GM25162 | B-Lymphocyte | | A->G | 1313 | Glut->Arg | 438 | | Q438R |
| GM25163 | B-Lymphocyte | 3 | G>A | | | | | IVS3 +1 G>A, del exon 3 |
| GM25168 | B-Lymphocyte | 4 | G>A | | | | | IVS4 -1G>A Es del. |
| GM25169 | B-Lymphocyte | | | | | | | IVS7-2 A>G; Exon 8 |
| GM25195 | B-Lymphocyte | | | | | | Centromeric breakpoint within marker region DMC cDNA 11Hc & DXS268 | Deletion between DXS28 & DXS727 |
| GM25196 | B-Lymphocyte | | A->G | | Asn->Gly | 198 | | D198G, A->G, Exon 7 |
| GM25198 | B-Lymphocyte | | G>A | 1357 | Glu>Lys | 453 | | E453K, G->A in 1357 |
| GM25201 | B-Lymphocyte | | G>A | 838 | Gly>Arg | 258 | | G258R, G>A at 838, exon 9 |
| GM25234 | B-Lymphocyte | | A>G | 862 | | | | N288D |
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