Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001330736.2
p.G808V
c.2423G>T
NM_001330736.2
p.T929fs
c.2785_2786fs
NM_001330736.2
p.C1340_P1341insFs
c.4020_4021insC
NM_001330736.2
p.Q75H
c.225G>C
NM_001330736.2
p.Q75H
c.225G>T
NM_001330736.2
p.I85M
c.255C>G
NM_001330736.2
p.E146K
c.436G>A
NM_001330736.2
p.E146D
c.438A>C
NM_001330736.2
p.E146D
c.438A>T
NM_001330736.2
p.E248Q
c.742G>C
NM_001330736.2
p.E275K
c.823G>A
NM_001330736.2
p.V278V
c.834A>G