Samples with Characterized Mutations
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(48)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM21498 | B-Lymphocyte | | A>G | 83 | N>S | 28 | N28S | ASN28SER |
| GM21499 | Fibroblast | | A>G | 83 | N>S | 28 | N28S | ASN28SER |
| GM21931 | Fibroblast | | del17 | 3464 | | 1155 | stop at codon 1186 | 3464del17 |
| GM21932 | Fibroblast | | G>T | 4766 | C>F | 1589 | C1589F | CYS1589PHE |
| GM21934 | Fibroblast | | G>A | IVS46+5 (5788) | | | | IVS46+5G>A |
| GM21935 | Fibroblast | 49 | del6 | IVS49+2 (6163) | | | skipped exon 49 | IVS49+2del6 |
| GM21936 | Fibroblast | 30 | G>A | IVS30-1 (3839-1) | | | deleted exon 31 (del126bp) | IVS30-1G>A |
| GM21937 | Fibroblast | 57 | A>G | IVS57-2 (7205-2) | | | deleted exon 58 | IVS57-2A>G |
| GM21938 | Fibroblast | | G>A | 3379 | G>S | 1127 | G1127S | GLY1127SER |
| GM21939 | Fibroblast | | | | | | deleted exons 42 and 43 | DEL EX42-43 |
| GM21940 | Fibroblast | | | | | | deleted exons 44-46 | DEL EX44-46 |
| GM21941 | Fibroblast | | C>T | 6354 | I>I (AUC to AUU) | 2118 | I2118I (skipped exon 51) | 6354C>T,EX51DEL,ILE2118ILE |
| GM21942 | Fibroblast | | G>A | 3458 | C>Y | 1153 | C1153Y | CYS1153TYR |
| GM21943 | Fibroblast | | G>A | 3725 | C>Y | 1242 | C1242Y | CYS1242TYR |
| GM21944 | Fibroblast | | T>C | 3976 | C>R | 1326 | C1326R | CYS1326ARG |
| GM21945 | Fibroblast | | T>C | 6049 | C>R | 2017 | C2017R | CYS2017ARG |
| GM21946 | Fibroblast | | G>T | 8057 | C>F | 2686 | C2686F | CYS2686PHE |
| GM21947 | Fibroblast | | T>C | 1495 | C>R | 499 | C499R | CYS499ARG |
| GM21948 | Fibroblast | | G>A | 3116 | C>Y | 1039 | C1039Y | CYS1039TYR |
| GM21950 | Fibroblast | | T>C | 3511 | C>R | 1171 | C1171R | CYS1171ARG |
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