Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_198276.3
p.G26S
c.76G>A
NM_198276.3
p.G101V
c.302G>T
NM_198276.3
p.N102K
c.306C>G
NM_198276.3
p.N102K
c.306C>A
NM_198276.3
p.S22T
c.64T>A
NM_198276.3
p.E2fs
c.4_5fs
NM_198276.3
p.E2delFs
c.4delC
NM_198276.3
p.R16fs
c.46_47fs
NM_198276.3
p.L43M
c.127C>A
NM_198276.3
p.R94W
c.280C>T
NM_198276.3
p.R94Q
c.281G>A
NM_198276.3
p.K106_V107Splc
c.319-2A>C