Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_014383.3
p.R16R
c.48G>T
NM_014383.3
p.L47_G49delFs
c.140_146del7
NM_014383.3
p.S51S
c.153C>T
NM_014383.3
p.R98K
c.293G>A
NM_014383.3
p.P170L
c.509C>T
NM_014383.3
p.G173S
c.517G>A
NM_014383.3
p.R174S
c.522A>C
NM_014383.3
p.R174S
c.522A>T
NM_014383.3
p.Q185P
c.554A>C
NM_014383.3
p.T189P
c.565A>C
NM_014383.3
p.S191A
c.571T>G
NM_014383.3
p.R195C
c.583C>T