Samples with Characterized Mutations
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| Records Return:
(34)
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| Catalog ID | Cell Type | Intron/Exon | Nucleotide
Change | Nucleotide
Number | Codon
Change | Codon
Number | Consequence | Mutation |
| GM00544 | Fibroblast | | del2 | 468_469 | | | frameshift | 468_469delAA |
| GM00710 | Fibroblast | | C>T | 619 | R>X | 207 | R207X | ARG207TER |
| GM01630 | Fibroblast | | G>C | 555 | | | missplice | 555G>C |
| GM01631 | Fibroblast | | G>C | 555 | | | missplice | 555G>C |
| GM01632 | Fibroblast | | G>C | 555 | | | missplice | 555G>C |
| GM02009 | Fibroblast | | del5 | 349_353 | L-M-N>E-P-L | 117_119 | | 5BP DEL |
| GM02009 | Fibroblast | | G>T | 323 | C>F | 108 | C108F | CYS108PHE |
| GM02010 | Fibroblast | | del5 | 349_353 | L-M-N>E-P-L | 117_119 | | 5BP DEL |
| GM02010 | Fibroblast | | G>T | 323 | C>F | 108 | C108F | CYS108PHE |
| GM02033 | Fibroblast | | G>A | 389 | | | no splice site | 389G>A |
| GM02062 | Fibroblast | | G>C | 555 | | | missplice | 555G>C |
| GM02062 | Fibroblast | | G>T | 631 | R>X | 211 | R211X | ARG211TER |
| GM02090 | Fibroblast | | G>A | 389 | | | no splice site | 389G>A |
| GM02091 | Fibroblast | | G>A | 389 | | | no splice site | 389G>A |
| GM02250 | B-Lymphocyte | | G>C | 555 | | | missplice | 555G>C |
| GM02250 | B-Lymphocyte | 3 | G>T | | | | missplice | G>T transversion in intron 3 |
| GM02344 | B-Lymphocyte | | G>C | 555 | | | missplice | 555G>C |
| GM02345 | B-Lymphocyte | 3 | G>C | | | | | 3-PRIME SPLICE SITE, INTRON 3 |
| GM02990 | Fibroblast | | delC | 374 | | | frameshift | 374delC |
| GM02991 | Fibroblast | | delC | 374 | | | frameshift | 374delC |
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