Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_032476.4
p.R3H
c.8G>A
NM_032476.4
p.M13T
c.38T>C
NM_032476.4
p.M13R
c.38T>G
NM_032476.4
p.R15_P16Splc
c.45+22656C>A
NM_032476.4
p.R24H
c.71G>A
NM_032476.4
p.P48S
c.142C>T
NM_032476.4
p.F68S
c.203T>C
NM_032476.4
p.L82F
c.246G>C
NM_032476.4
p.L82F
c.246G>T
NM_032476.4
p.L98L
c.294G>A
NM_032476.4
p.A114V
c.341C>T
NM_032476.4
p.S119A
c.355T>G