Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_170743.4
p.R260Q
c.779G>A
NM_170743.4
p.H359Y
c.1075C>T
NM_170743.4
p.R6G
c.16C>G
NM_170743.4
p.L10L
c.28C>T
NM_170743.4
p.G20Splc
c.58+2018C>A
NM_170743.4
p.G20Splc
c.59-1366C>T
NM_170743.4
p.V39M
c.115G>A
NM_170743.4
p.N49S
c.146A>G
NM_170743.4
p.Y59C
c.176A>G
NM_170743.4
p.S61Splc
c.182+8G>A
NM_170743.4
p.S61Splc
c.182+360A>G
NM_170743.4
p.P63P
c.189C>T