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Gene Mutations
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| Records Return:
(7)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| RECQL4 | 603780 | 268400 | 8q24.3 | 2-BP DEL, NT2492 | 0003 | ROTHMUND-THOMSON SYNDROME | 1 |
| RECQL4 | 603780 | 268400 | 8q24.3 | g.2626G>A | | ROTHMUND-THOMSON SYNDROME | 5 |
| RECQL4 | 603780 | 268400 | 8q24.3 | g.2746del11 | | ROTHMUND-THOMSON SYNDROME | 4 |
| RECQL4 | 603780 | 268400 | 8q24.3 | g.2886delT | | ROTHMUND-THOMSON SYNDROME | 3 |
| RECQL4 | 603780 | 268400 | 8q24.3 | g.4503C>T | | ROTHMUND-THOMSON SYNDROME | 2 |
| RECQL4 | 603780 | 268400 | 8q24.3 | g.4644delAT | | ROTHMUND-THOMSON SYNDROME | 1 |
| RECQL4 | 603780 | 268400 | 8q24.3 | IVS12AS, G>T, -1 | 0004 | ROTHMUND-THOMSON SYNDROME | 1 |
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