Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_004336.5
p.A226V
c.677C>T
NM_004336.5
p.D294N
c.880G>A
NM_004336.5
p.S492Y
c.1475C>A
NM_004336.5
p.N534D
c.1600A>G
NM_004336.5
p.P825S
c.2473C>T
NM_004336.5
p.Q16*
c.46C>T
NM_004336.5
p.M1R
c.2T>G
NM_004336.5
p.A733insFs
c.2197dupG
NM_004336.5
p.L875_N876Splc
c.2625+1G>A
NM_004336.5
p.Q949fs
c.2845_2846fs
NM_004336.5
p.T3N
c.8C>A
NM_004336.5
p.P23A
c.67C>G