Samples with Characterized Mutations
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| Records Return:
(4)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM10309 | Fibroblast | | C>T | 1980 | R>X | 565 | R656X | ARG565TER |
| GM10309 | Fibroblast | | G>A | 1648 | V>M | 550 | V550M | VAL550MET |
| GM11576 | Amniotic fluid-derived cell line | | | | L>P | 514 | L514P | LEU514PRO |
| GM11576 | Amniotic fluid-derived cell line | 10 | G>A | IVS10+5 | | | | IVS10+5G>A |
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