Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_001288990.3
p.R46*
c.136C>T
NM_001288990.3
p.Q4E
c.10C>G
NM_001288990.3
p.R20Q
c.59G>A
NM_001288990.3
p.P21S
c.61C>T
NM_001288990.3
p.S36I
c.107G>T
NM_001288990.3
p.S54F
c.161C>T
NM_001288990.3
p.M55_G56delFs
c.165_166delGG
NM_001288990.3
p.S60Y
c.179C>A
NM_001288990.3
p.R75Q
c.224G>A
NM_001288990.3
p.P77R
c.230C>G
NM_001288990.3
p.Q90L
c.269A>T
NM_001288990.3
p.R95C
c.283C>T