Papers
RefSeq ID
Protein change
DNA change
1–12 of 312 variants
NM_017739.4
p.H513_E514Splc
c.1539+1G>A
NM_017739.4
p.D556N
c.1666G>A
NM_017739.4
p.R605H
c.1814G>A
NM_017739.4
p.F212F
c.636C>T
NM_017739.4
p.R265H
c.794G>A
NM_017739.4
p.M623V
c.1867A>G
NM_017739.4
p.E223K
c.667G>A
NM_017739.4
p.R311Q
c.932G>A
NM_017739.4
p.C490Y
c.1469G>A
NM_017739.4
p.C269Y
c.806G>A
NM_017739.4
p.R442H
c.1325G>A
NM_017739.4
p.R63*
c.187C>T