Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_017820.5
p.R20Q
c.59G>A
NM_017820.5
p.T533M
c.1598C>T
NM_017820.5
p.V336M
c.1006G>A
NM_017820.5
p.G441E
c.1322G>A
NM_017820.5
p.A502V
c.1505C>T
NM_017820.5
p.V504M
c.1510G>A
NM_017820.5
p.C545Y
c.1634G>A
NM_017820.5
p.D555N
c.1663G>A
NM_017820.5
p.R653C
c.1957C>T
NM_017820.5
p.R810Q
c.2429G>A
NM_017820.5
p.G13G
c.39C>T
NM_017820.5
p.E14K
c.40G>A