Patient | Expected variant (previously confirmed) | Incidental pathogenic variants found |
---|---|---|
PT179 | APC p.I1307K (c.3920 T > A) | CHEK2 p.S428F (c.1283C > T), BRCA1 p.E23fs (c.68_69delAG) |
PT219 | SMAD4 p.L414fs (c.1242_1245delAGAC) | MUTYH p.Y179C (c.536A > G), VHL p.E52* (c.154G > T) |
PT78 | BRCA1 (c.301 + 1G > A) | BRCA2 p.S1982fs (c.5946delT) |
PT58 | BRCA1 Intragenic deletion exons 14 to 20 | ATM p.V2497fs (c.7489_7490insTT) |
PT57 | BRCA2 p.D1898C (c.5692_5693delinsTG) | TP53 p.T123fs (c.368_369delCT) |
PT151 | CDH1 p.I363fs (c.1089_1090insACAGTCACTGACACCA) | CHEK2 p.T367fs (c.1100delC) |
PT119 | MLH1 Intragenic deletion exons 1-15 | CHEK2 p.S428F (c.1283C > T) |
PT187 | MLH1 p.E331fs (c.992delA) | APC p.I1307K (c.3920 T > A) |
PT23 | MLH1 p.S388fs (c.1163_1164delCC) | NF2 p.R568fs (c.1702_1703delAG) |
PT100 | MLH1 p.Y548fs (c.1642_1648delTACCTTC) | TSC2 p.1684_1690del (c.5051_5068del) |
PT141 | MSH2 p.A636P (c.1906G > C) | JAK2 p.R761fs (c.2281_2282delAG) |
PT212 | MSH6 p.N1327fs (c.3980_3981insTCAG) | APC p.I1307K (c.3920 T > A) |
PT145 | MUTYH (c.892-2A > G) | RUNX1 p.K152fs (c.455dupA) |
PT33 | TP53 p.R342* (c.1024C > T) | BRIP1 p.N590fs (c.1770delC) |
PT90 | MLH1 p.A441T (c.1321G > A) | TSC2 p.1684_1690del (c.5051_5068del) |
PT106 | MLH1 p.T117R (c.350C > G) | APC p.I1307K (c.3920 T > A) |