| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| CAGgtttgc |
| CAGttttgc |
| -31.9 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 31_H145_H145_1_H145_1_A | - | - | - | - | - |
| 31_H145_H145_4_H145_4_A | - | - | - | - | - |
| 31_H145_H145_5_H145_5_A | - | - | - | - | - |
| 31_H145_H145_6_H145_6_A | - | - | - | - | - |
| 41_HNPCC152_HNPCC152001_- | c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| 5_2006140_20061991_AAB201 | - | - | - | - | - |
| 7_-5945---E050593 | c.2801C>T (p.Thr934Met) | - | - | - | - |
| 7_-59453982E050593 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.2801C>T (p.Thr934Met) | - | - | - | - |
| 7_5008 (F501)4169E050819 | c.2801C>T (p.Thr934Met) | c.655A>G (p.Ile219Val) | - | - | - |
| Biological significance | Date | Comment |
|---|---|---|
| Causal | 21/02/14 | --- |