|  |  | Variant Detected | |
---|---|---|---|---|
Patient ID | Age | Familial* | SMAD3 | SMAD4 |
P1 | 53 | OFBCR | IVS8+23A > C | None |
P2 | 57 | Â | None | IVS12+41 G > A |
P3 | 39 | OFBCR | None | IVS10+109 A > G |
P4 | 45 | OFBCR/FDR | IVS9+132 A > T | None |
P5 | 44 | Â | None | IVS11+118 A > G |
P6 | 51 | OFBCR | None | IVS12-33 T > A |
P7 | 47 | Â | None | IVS12 +132 delA |
P8 | N/A | OFBCR/FDR | IVS8+23A > C | None |
P9 | N/A | OFBCR | None | c.1350G > A/p.Gln450Gln |
C1 | 44 | Â | None | IVS10+44 T > C, IVS11+106del7N |
C2 | 44 | Â | None | IVS11+68 delGAA |
C3 | 42 | Â | IVS8+23A > C | None |
C4 | 37 | Â | None | IVS10+109 A > G |
C5 | 49 | Â | None | IVS12 +132 delA |
C6 | 34 | Â | IVS8-211 C > T | None |
C7 | 43 | Â | None | IVS12-52 A > T |
C8 | 43 | OFBCR/FDR | IVS8+23A > C | None |
C9 | 54 | Â | IVS8+23A > C | None |
C10 | 45 | Â | IVS6-132C > T | None |
C11 | 50 | Â | IVS7+69G > C | None |
C12 | 52 | Â | None | c.1214T > C/p.Phe362Phe ** |
C13 | 47 | Â | None | IVS9-121 A > C |
C14 | 50 | Â | IVS8+161C > T | IVS10+109 A > G |
C15 | 31 | OFBCR/FDR | none | IVS10+109 A > G |
C16 | 35 | Â | IVS8+23A > C | None |
C17 | 48 | Â | IVS8+23A > C | None |
C18 | 46 | Â | IVS8+48T > G | None |
C19 | 43 | Â | IVS7+69G > C, IVS8-55 A > G | None |
C20 | 46 | Â | None | IVS13+53 A > G |
C21 | 45 | Â | IVS8-170C > T | None |
C22 | 67 | Â | IVS8+48T > G | None |
C23 | 49 | Â | None | IVS10-121 A > C |
C24 | 37 | Â | None | c.1701A > G/p.Ile525Val |
C25 | 52 | Â | IVS7+69G > C, IVS8-55 A > G | None |
C26 | 66 | Â | IVS7+69G > C | None |
C27 | 60 | Â | None | IVS12 +132 delA |
C28 | 62 | Â | None | IVS12 +132 delA |