| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ttcagaacttggtaa |
| ttcagaacttAgtaa |
| 39.5 % |
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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 7_1916418E01103 | c.IVS1+9C>G (c.211+9C>G) c.IVS1-4del (c.212-4del) c.IVS9+29delAAT (c.1510+29delAAT) | - | - | - | - |
| 7_2231569E01257 | c.IVS1+9C>G (c.211+9C>G) c.IVS1-4del (c.212-4del) c.IVS5+28del2 (c.942+28del2) | - | c.IVS7+35del4 (c.3646+35del4) c.116G>A (p.Gly39Glu) | - | - |
| 7_2600581E01271 | c.IVS1-4del (c.212-4del) c.IVS5+28del2 (c.942+28del2) c.IVS10+12G>A (c.1661+12G>A) | - | c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_2746633E02054 | - | c.IVS15-19T>A (c.1732-19T>A) c.655A>G (p.Ile219Val) | c.IVS2-8C>T (c.458-8C>T) c.186C>A (p.Arg62Arg) c.276A>G (p.Pro92Pro) | - | - |
| 7_2764626E02022 | c.IVS1-4del (c.212-4del) c.IVS5+28del2 (c.942+28del2) | - | c.3549A>G (p.Ile1183Met) c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_444453E01139 | c.2647dup (p.Ile883AsnfsX16) c.IVS1+9C>G (c.211+9C>G) c.IVS1-4del (c.212-4del) c.741C>T (p.Gly247Gly) c.IVS5+28del2 (c.942+28del2) | - | - | - | - |
| Biological significance | Date | Comment |
|---|---|---|
| UV | 6/06/07 | --- |