Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_001080849.3
p.E142K
c.424G>A
NM_001080849.3
p.S178T
c.533G>C
NM_001080849.3
p.A154T
c.460G>A
NM_001080849.3
p.M1insFs
c.1_2insG
NM_001080849.3
p.T4insFs
c.10_11insA
NM_001080849.3
p.R39W
c.115C>T
NM_001080849.3
p.E167K
c.499G>A
NM_001080849.3
p.P169H
c.506C>A
NM_001080849.3
p.M1V
c.1A>G
NM_001080849.3
p.R7R
c.21C>G
NM_001080849.3
p.A9A
c.27G>C
NM_001080849.3
p.P10fs
c.28_29fs