Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_001145095.3
p.M1K
c.2T>A
NM_001145095.3
p.R7P
c.20G>C
NM_001145095.3
p.C14Y
c.41G>A
NM_001145095.3
p.L23I
c.67C>A
NM_001145095.3
p.G39R
c.115G>C
NM_001145095.3
p.G39R
c.115G>A
NM_001145095.3
p.M40I
c.120G>T
NM_001145095.3
p.M40I
c.120G>C
NM_001145095.3
p.M40I
c.120G>A
NM_001145095.3
p.G59R
c.175G>C
NM_001145095.3
p.G59R
c.175G>A
NM_001145095.3
p.V60fs
c.178_179fs