Gene | Location | Nucleotide change | Amino acid change | Gene ID in databases | Mutation pattern | SIFT function | Polyphen-2 function | Therapeutic implication |
---|---|---|---|---|---|---|---|---|
Somatic mutations | ||||||||
RB1 | exon21 | c.2211 + 1G > C | NA | COSM7154357 | Splicing | NA | NA | mTOR inhibitor |
COSM7154356 | ||||||||
Germline mutation | ||||||||
ALK | exon3 | c.862 T > C | p.W288R | NA | Heterozygosis | Damaging | Damaging | VUS |
BLM | exon5 | c.1021C > T | p.L341F | NA | Heterozygosis | Tolerated | Benign | VUS |
PTCH1 | exon1 | c.152_154del | p.51_52del | NA | Heterozygosis | Tolerated | Damaging | VUS |
MSH2 | exon1 | c.14C > A | p.P5Q | rs56170584 | Heterozygosis | Tolerated | Damaging | VUS |
RAD51C | exon4 | c.635G > A | p.R212H | rs200857129 | Heterozygosis | Tolerated | Damaging | VUS |