Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001138.2
p.A67T
c.199G>A
NM_001138.2
p.M23L
c.67A>T
NM_001138.2
p.E61K
c.181G>A
NM_001138.2
p.D35E
c.105C>A
NM_001138.2
p.G44Splc
c.131-42C>T
NM_001138.2
p.D103N
c.307G>A
NM_001138.2
p.F112Y
c.335T>A
NM_001138.2
p.T3T
c.9C>T
NM_001138.2
p.D35G
c.104A>G
NM_001138.2
p.D35D
c.105C>T
NM_001138.2
p.G46G
c.138C>A
NM_001138.2
p.R48W
c.142C>T