Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_181706.5
p.D94G
c.281A>G
NM_181706.5
p.I15L
c.43A>C
NM_181706.5
p.I35delFs
c.103_104delAT
NM_181706.5
p.M37_Y38Splc
c.112-18108C>T
NM_181706.5
p.H39Q
c.117T>A
NM_181706.5
p.H39Q
c.117T>G
NM_181706.5
p.Q43H
c.129A>T
NM_181706.5
p.E61K
c.181G>A
NM_181706.5
p.R82Q
c.245G>A
NM_181706.5
p.D86N
c.256G>A
NM_181706.5
p.E101V
c.302A>T
NM_181706.5
p.S103_W104delFs
c.307_311del5