Gene/Event |
Cancer Type |
Patient |
Variant |
Mutation Level |
NPHP1 |
Breast Cancer | p111_p8-82 |
p.E137X |
Branch mutation |
NPHP1 |
Breast Cancer | p131_case2 |
p.L589V |
Trunk mutation |
NPHP1 |
Colorectal Cancer | p155_p335 |
p.Q402H |
Private mutation |
NPHP1 |
Colorectal Cancer | p155_p492 |
p.S400N |
Private mutation |
NPHP1 |
Colorectal Cancer | p156_p336 |
p.W389C |
Private mutation |
NPHP1 |
Esophageal Squamous Cell Carcinoma | p008_ESCC13 |
p.R668H |
Branch mutation |
NPHP1 |
Esophageal Squamous Cell Carcinoma | p124_ESCC012 |
p.E467Q |
Branch mutation |
NPHP1 |
Esophageal Squamous Cell Carcinoma | p128_P19 |
Chr2:110919226:C>T |
Private mutation |
NPHP1 |
Gastric Adenocarcinoma | p011_MSI-H1 |
p.R204I |
Private mutation |
NPHP1 |
Anaplastic Astrocytoma | p070_HGG1 |
Chr2:110942765:G>T |
Branch mutation |
NPHP1 |
Glioblastoma | p113_case07 |
p.W491* |
Private mutation |
NPHP1 |
Glioma | p168_P01 |
p.E177K |
Private mutation |
NPHP1 |
Glioma | p168_P01 |
p.A507T |
Private mutation |
NPHP1 |
Medulloblastoma | p072_MB6 |
Chr2:110937079:T>A |
Private mutation |
NPHP1 |
Melanoma | p043_F |
p.P397S |
Trunk mutation |
NPHP1 |
Melanoma | p043_H |
p.G516S |
Private mutation |
NPHP1 |
Renal Cell Carcinoma | p073_RCC3 |
Chr2:110902257:G>A |
Private mutation |