Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_002522.4
p.G389R
c.1165G>C
NM_002522.4
p.G389R
c.1165G>A
NM_002522.4
p.A263T
c.787G>A
NM_002522.4
p.E327G
c.980A>G
NM_002522.4
p.C10S
c.28T>A
NM_002522.4
p.C10S
c.29G>C
NM_002522.4
p.A20P
c.58G>C
NM_002522.4
p.G26W
c.76G>T
NM_002522.4
p.T28M
c.83C>T
NM_002522.4
p.R29C
c.85C>T
NM_002522.4
p.V46A
c.137T>C
NM_002522.4
p.V65insFs
c.193_194insA