Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_178499.5
p.R155H
c.464G>A
NM_178499.5
p.D33E
c.99C>A
NM_178499.5
p.D33E
c.99C>G
NM_178499.5
p.I46V
c.136A>G
NM_178499.5
p.R55Q
c.164G>A
NM_178499.5
p.A214E
c.641C>A
NM_178499.5
p.R304Q
c.911G>A
NM_178499.5
p.Q11*
c.31C>T
NM_178499.5
p.R20W
c.58C>T
NM_178499.5
p.Q30_V31Splc
c.90+1G>A
NM_178499.5
p.Q30_V31Splc
c.90+26611A>T
NM_178499.5
p.K51fs
c.151_152fs