Samples with Characterized Mutations
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| Records Return:
(12)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM05241 | Fibroblast | | | | | | | ARG924TER |
| GM10277 | Fibroblast | | | | | | | c.5C>G (p.Ala2Gly) |
| GM20031 | Fibroblast | | A>G | | N>D | 431 | N431D | ASN431ASP |
| GM20032 | Fibroblast | | C>A | | Y>X | 1122 | Y1122X | TYR1122TER |
| GM20032 | Fibroblast | | T>A | | L>Q | 93 | L93Q | LEU93GLN |
| GM20033 | Fibroblast | | C>T | | S>L | 323 | S323L | SER323LEU |
| GM20034 | Fibroblast | | | | L>P | 233 | L233P | LEU233PRO |
| GM20035 | Fibroblast | | C>T | | R>W | 1092 | R1092W | ARG1092TRP |
| GM20035 | Fibroblast | | C>T | | R>X | 897 | R897X | ARG897TER |
| GM20327 | Fibroblast | | G>T | 451 | E>X | 124 | E124X | GLU124TER |
| GM20328 | Fibroblast | | del3 | 1158_1161 | | 281 | | 3-BP DEL (N281) |
| GM20328 | Fibroblast | 13 | G>A | IVS13+1 | | | | IVS13+1,G>A |
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