Skip to main content
. 2020 May 16;21(10):3530. doi: 10.3390/ijms21103530

Table 1.

Summary of the validated mutations.

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