Papers
RefSeq ID
Protein change
DNA change
1–12 of 158 variants
NM_019088.4
p.D210N
c.628G>A
NM_019088.4
p.E438K
c.1312G>A
NM_019088.4
p.M1V
c.1A>G
NM_019088.4
p.H70Q
c.210C>G
NM_019088.4
p.H70Q
c.210C>A
NM_019088.4
p.D85N
c.253G>A
NM_019088.4
p.D95Y
c.283G>T
NM_019088.4
p.K119delFs
c.356delT
NM_019088.4
p.W130*
c.390G>A
NM_019088.4
p.T134I
c.401C>T
NM_019088.4
p.G145_N148Fs
c.433_442delinsAGAFs
NM_019088.4
p.E152V
c.455A>T