Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
PRKG1 | 9414 | COSM48707, | lung | carcinoma | p.S570N | Substitution - Missense | 10:52282316-52282316, | PATHOGENIC | 0.97322 | 18948947 |
PRKG1 | 9414 | COSM99003, | stomach | carcinoma | p.H509Y | Substitution - Missense | 10:52280910-52280910, | PATHOGENIC | 0.94828 | 21097718 |
PRKG1 | 9414 | COSM13354, | central_nervous_system | glioma | p.L647L | Substitution - coding silent | 10:52290269-52290269, | PATHOGENIC | 0.93698 | 16618716 |
PRKG1 | 9414 | COSM13354, | central_nervous_system | glioma | p.L647L | Substitution - coding silent | 10:52290269-52290269, | PATHOGENIC | 0.93698 | 16618716 |
PRKG1 | 9414 | COSM314452, | lung | carcinoma | p.S288T | Substitution - Missense | 10:52062558-52062558, | PATHOGENIC | 0.93306 | 22941188 |
PRKG1 | 9414 | COSM314451, | lung | carcinoma | p.E148D | Substitution - Missense | 10:51153296-51153296, | PATHOGENIC | 0.90819 | 22941188 |
PRKG1 | 9414 | COSM5010065, | large_intestine | carcinoma | p.Q63* | Substitution - Nonsense | 10:51074777-51074777, | PATHOGENIC | 0.71337 | 24951259 |