Samples with Characterized Mutations
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| Records Return:
(5)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM15752 | Fibroblast | | del18 | 1540_1557 | | 488_493 | Deletion of amino acids 488-493 | 18 bp deletion (1540-1557; c.1462-1479) |
| GM15753 | Fibroblast | | C>T | 2242 | R>W | 722 | R722W | ARG722TRP |
| GM15753 | Fibroblast | | G>C | 1925 | R>P | 616 | R616P | ARG616PRO |
| GM15754 | Fibroblast | | G>A | | R>H | 112 | R112H | ARG112HIS |
| GM15754 | Fibroblast | 15 | insT | | | | loss of codons in ERCC2 protein | +T insertion (splice donor site of intron 15) |
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