Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_005987.4
p.V61I
c.181G>A
NM_005987.4
p.H42Q
c.126C>A
NM_005987.4
p.H42Q
c.126C>G
NM_005987.4
p.Q6P
c.17A>C
NM_005987.4
p.I34F
c.100A>T
NM_005987.4
p.K38Q
c.112A>C
NM_005987.4
p.H42insFs
c.125dupA
NM_005987.4
p.H42fs
c.124_125fs
NM_005987.4
p.V45M
c.133G>A
NM_005987.4
p.V53M
c.157G>A
NM_005987.4
p.K60N
c.180G>C
NM_005987.4
p.K60N
c.180G>T