Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_001031617.3
p.P14Q
c.41C>A
NM_001031617.3
p.C30S
c.88T>A
NM_001031617.3
p.C30S
c.89G>C
NM_001031617.3
p.C40S
c.118T>A
NM_001031617.3
p.C40S
c.119G>C
NM_001031617.3
p.C51S
c.151T>A
NM_001031617.3
p.C51S
c.152G>C
NM_001031617.3
p.K53E
c.157A>G
NM_001031617.3
p.S55A
c.163T>G
NM_001031617.3
p.C61S
c.181T>A
NM_001031617.3
p.C61S
c.182G>C
NM_001031617.3
p.L69P
c.206T>C