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Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 7_1030284E2K267 | c.2546T>G (p.Leu849Arg) | c.IVS14-19A>G (c.1668-19A>G) | c.IVS5+14A>T (c.3438+14A>T) c.87C>A (p.Arg29Arg) c.276A>G (p.Pro92Pro) c.540T>C (p.Asp180Asp) | - | - |
| 7_1099289E2K272 | c.974C>T (p.Ser325Phe) | c.483G>A (p.Thr161Thr) c.IVS14-19A>G (c.1668-19A>G) | - | - | - |
| 7_1141293E2K275 | c.157G>A (p.Ala53Thr) c.IVS10+12G>A (c.1661+12G>A) c.2546T>G (p.Leu849Arg) | gt;A (p.Glu37Lys) c.483G>A (p.Thr161Thr) c.IVS13+14G>A (c.1558+14G>A) c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_20588E2K036 | c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) | c.483G>A (p.Thr161Thr) c.655A>G (p.Ile219Val) c.2146G>A (p.Val716Met) | - | - | - |
| 7_20699E2K037 | - | c.655A>G (p.Ile219Val) | - | - | - |
| 7_2432353E01034 | c.974C>T (p.Ser325Phe) | c.2136G>A (p.Trp712X) | - | - | - |
| 7_38732077E040292 | c.IVS1-4del (c.212-4del) | c.655A>G (p.Ile219Val) | - | - | - |
| 7_40352204E040427 | c.157G>A (p.Ala53Thr) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_42812412E040559 | c.148G>A (p.Ala50Thr) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_4335 (04K224)2463E04059 | c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| Biological significance | Date | Comment |
|---|---|---|
| UV | 6/06/07 | --- |