Papers
RefSeq ID
Protein change
DNA change
1–12 of 478 variants
NM_004366.6
p.G24D
c.71G>A
NM_004366.6
p.G715E
c.2144G>A
NM_004366.6
p.R172Q
c.515G>A
NM_004366.6
p.M22K
c.65T>A
NM_004366.6
p.Y26N
c.76T>A
NM_004366.6
p.W570*
c.1709G>A
NM_004366.6
p.W570*
c.1710G>A
NM_004366.6
p.S865R
c.2593A>C
NM_004366.6
p.R235Q
c.704G>A
NM_004366.6
p.S865R
c.2595T>G
NM_004366.6
p.S865R
c.2595T>A
NM_004366.6
p.L21insFs
c.61dupC