Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001199885.1
p.E18V
c.53A>T
NM_001199885.1
p.E31E
c.93G>A
NM_016400.4
p.S57S
c.171T>C
NM_016400.4
p.A2A
c.6G>T
NM_016400.4
p.G5R
c.13G>A
NM_016400.4
p.T15I
c.44C>T
NM_001199885.1
p.E51A
c.152A>C
NM_001199885.1
p.E52A
c.155A>C
NM_016400.4
p.T54P
c.160A>C
NM_016400.4
p.T54R
c.161C>G
NM_016400.4
p.E74A
c.221A>C
NM_016400.4
p.S104S
c.312T>C