From: Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline
Gene
nt change (cDNA)
Exon
Effect
Frequency
DNMT2
G175→A
2
silent
A = 6, G = 4
T217→C
3
T = 8, C = 2
C308→T
4
His101→Tyr
T = 6, C = 4
G556→T
8
G = 8, T = 2
DNMT3L
A1316→G
9
Arg278→Gly
A = 34, G = 8