Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_005242.6
p.F240S
c.719T>C
NM_005242.6
p.S30N
c.89G>A
NM_005242.6
p.S195A
c.583T>G
NM_005242.6
p.T301I
c.902C>T
NM_005242.6
p.R2W
c.4C>T
NM_005242.6
p.A6V
c.17C>T
NM_005242.6
p.A12_A13ins2
c.36_37ins6
NM_005242.6
p.S21F
c.62C>T
NM_005242.6
p.G28Splc
c.82+1G>A
NM_005242.6
p.G35G
c.105A>G
NM_005242.6
p.R36_S37ins6
c.106_110ins18
NM_005242.6
p.R36G
c.106A>G