Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001145115.3
p.R353H
c.1058G>A
NM_001145115.3
p.A21D
c.62C>A
NM_001145115.3
p.P30L
c.89C>T
NM_001145115.3
p.G41R
c.121G>C
NM_001145115.3
p.A82T
c.244G>A
NM_001145115.3
p.L99V
c.295C>G
NM_001145115.3
p.Q133*
c.397C>T
NM_001145115.3
p.E175K
c.523G>A
NM_001145115.3
p.E211*
c.631G>T
NM_001145115.3
p.Q214Q
c.642G>A
NM_001145115.3
p.P245H
c.734C>A
NM_001145115.3
p.E270K
c.808G>A