Table 1.
Gene | Position (hg38) | DNA | Mutation Type | Protein | dbSNP | ClinVar | COSMIC |
---|---|---|---|---|---|---|---|
FBXW7 | chr4:152326214 | NM_033632.3:c.1436G > A | missense | NP_361014.1:p.Arg479Gln | rs866987936 | 376419 | COSM1154291; COSM22974; COSM447498; COSM447499; COSM6847976: COSM94297 |
MAP3K1 | chr5:56882328 | NM005921.1:c.3138C > T | missense | NP_005912.1:p.Ser1043Phe | - | - | COSM6889390 |
NRG1 | chr8:32631387 | NM_13960.4:c.502+14502C > G | intron variant | - | - | - | - |
NRG1 | chr8:32631557 | NM_13960.4:c.502+14672C > G | intron variant | - | - | - | - |
CDKN2A | chr9:21974793 | NM_058197.4:c.35C > T | missense | NP_478104.2:p.Ser12Leu | rs141798398 | 236988 | COSM6985693; COSM6985694; COSM6985695 |