Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_024581.6
p.Q178R
c.533A>G
NM_024581.6
p.A296V
c.887C>T
NM_024581.6
p.D599N
c.1795G>A
NM_024581.6
p.H841L
c.2522A>T
NM_024581.6
p.P4L
c.11C>T
NM_024581.6
p.A27E
c.80C>A
NM_024581.6
p.D35E
c.105C>G
NM_024581.6
p.D35E
c.105C>A
NM_024581.6
p.Q50K
c.148C>A
NM_024581.6
p.K53_V54Splc
c.160-7C>G
NM_024581.6
p.A57T
c.169G>A
NM_024581.6
p.E77D
c.231A>T