Samples with Characterized Mutations
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| Records Return:
(11)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM20942 | Fibroblast | | C>A | 357 | F>L | 119 | F119L | PHE119LEU |
| GM20942 | Fibroblast | | G>A | 425 | R>H | 141 | R141H | ARG141HIS |
| GM20945 | Fibroblast | | TA>GC | 95 | L>R | 32 | L32R | LEU32ARG |
| GM20945 | Fibroblast | | T>C | 470 | F>S | 157 | F157S | PHE157SER |
| GM20956 | Fibroblast | | | | P>T | 113 | P113T | PRO113THR |
| GM20956 | Fibroblast | | G>A | 425 | R>H | 141 | R141H | ARG141HIS |
| GM27226 | Fibroblast | | | | | | | ASN216ILE |
| GM27226 | Fibroblast | | G>A | 425 | R>H | 141 | R141H | ARG141HIS |
| GM27386 | Fibroblast | | c.415G>A | 415 | | | | c.415G>A (p.E139K) |
| GM27386 | Fibroblast | | G>A | 422 | | 141 | | c.422G>A (p.R141H) |
| GM27389 | Fibroblast | | G>A | 425 | R>H | 141 | R141H | ARG141HIS |
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