Samples with Characterized Mutations
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(91)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00110 | Fibroblast | | delTCCTTT (or CTTTTC) | 2215 (or 2217) | del2aa | 740F | del740F-741S | 2215(or 2217)delTCCTTT(or CTTTTC) |
| GM00110 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM03123 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM03123 | Fibroblast | | C>T | 709 | P>S | 237 | P237S | PRO237SER |
| GM03123 | Fibroblast | 12 | G>C | 1947+5 | | | | c.1947+5G>C |
| GM03124 | B-Lymphocyte | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM03124 | B-Lymphocyte | | C>T | 709 | P>S | 237 | P237S | PRO237SER |
| GM03124 | B-Lymphocyte | 12 | G>C | 1947+5 | | | | c.1947+5G>C |
| GM17911 | Fibroblast | | C>T | 3107 | T>M | 1036 | T1036M | THR1036MET |
| GM17911 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM17912 | Fibroblast | | C>G | 3019 | P>A | 1007 | P1007A | PRO1007ALA |
| GM17912 | Fibroblast | | C>T | 3107 | T>M | 1036 | T1036M | THR1036MET |
| GM17913 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM17913 | Fibroblast | | G>A | 3493 | V>M | 1165 | V1165M | VAL1165MET |
| GM17914 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM17914 | Fibroblast | | insGA | 424_425 | | | | 424_425insGA |
| GM17918 | Fibroblast | | insT | 2336 | | | | 2336insT |
| GM17918 | Fibroblast | | C>T | 410 | T>M | 137 | T137M | THR137MET |
| GM17919 | Fibroblast | | T>C | 3182 | I>T | 1061 | I1061T | ILE1061THR |
| GM17919 | Fibroblast | | C>T | 1210 | R>W | 404 | R404W | ARG404TRP |
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