Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_015976.5
p.R117K
c.350G>A
NM_015976.5
p.S123T
c.367T>A
NM_015976.5
p.E337E
c.1011G>A
NM_015976.5
p.V339M
c.1015G>A
NM_015976.5
p.M1I
c.3G>C
NM_015976.5
p.G22E
c.65G>A
NM_015976.5
p.G27insFs
c.80dupG
NM_015976.5
p.S37F
c.110C>T
NM_015976.5
p.K60_D61Splc
c.180+1G>A
NM_015976.5
p.S63T
c.187T>A
NM_015976.5
p.P78T
c.232C>A
NM_015976.5
p.E90*
c.268G>T