Table 1.

Familial deleterious germline mutations in MLL3 identified by WES

GeneChrPositionReference alleleVariant alleleExonic functionrsIDNucleotide changeProtein change
MLL37151945071Tstopgain SNVrs1500730072447dupAY816*
MLL37151945204GAns SNVrs4024453C2315TS772L
MLL37151970856TAns SNVrs10454320A946TT316S

NOTE: All three variants were observed in all three NPC-affected family members.

Abbreviations: Chr, chromosome; SNV, single nucleotide variant; ns, nonsynonymous.