Patient ID | HGVSc | HGVSp | Variant | Brain VAF (%) Gene panel | Brain VAF (%) Validation | M-CAP | CADD score |
---|---|---|---|---|---|---|---|
DE-1 | c.206C > T | p.Thr69Ile | Missense SNV | 14 | 5.75 | D | 23.8 |
DE-2 | c.603_606dupAGGC | p.Leu203Argfs*20 | Fs insertion | 21 | 13.88 | – | – |
DE-3 | c.569_572delGAGG | p.Gly190Alafs*158 | Fs deletion | 41 | 47.09 | – | – |
DE-4 | c.335_339dupCGCTC | p.Lys114Argfs*32 | Fs insertion | 52 | Sanger confirmed | – | – |
DE-5 | c.905C > T | p.Ser302Phe | Missense SNV | 7 | 10.55 | D | 28.1 |
DE-6 | c.580_616dupCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCG | p.Val206Alafs*28 | Fs insertion | 9 | 6.20 | – | – |
DE-7 | c.359_360delTC | p.Leu120Hisfs*7 | Fs deletion | 30 | Sanger confirmed | – | – |
DE-8 | c.112_116delinsTGGTGGTCCAGAATG | p.Ile38Trpfs*59 | Fs indel | 33 | 33.41 | – | – |
DE-9 | c.935C > T | p.Ser312Phe | Missense SNV | 33 | 33.02 | D | 26.9 |