Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001113567.3
p.R23R
c.67C>A
NM_001113567.3
p.R36L
c.107G>T
NM_001113567.3
p.G42E
c.125G>A
NM_001113567.3
p.G45D
c.134G>A
NM_001113567.3
p.M57I
c.171G>T
NM_001113567.3
p.M57I
c.171G>C
NM_001113567.3
p.M57I
c.171G>A
NM_001113567.3
p.H110H
c.330C>T
NM_001113567.3
p.H110fs
c.328_329fs
NM_001113567.3
p.H110delFs
c.329_330delGT
NM_001113567.3
p.R154W
c.460C>T
NM_001113567.3
p.G171A
c.512G>C