Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_016033.3
p.K52N
c.156A>T
NM_016033.3
p.K52N
c.156A>C
NM_016033.3
p.M1T
c.2T>C
NM_016033.3
p.P24S
c.70C>T
NM_016033.3
p.G46E
c.137G>A
NM_016033.3
p.S58L
c.173C>T
NM_016033.3
p.A81A
c.243C>T
NM_016033.3
p.V83Splc
c.247+29T>G
NM_016033.3
p.V83Splc
c.248-1G>A
NM_016033.3
p.G97R
c.289G>C
NM_016033.3
p.G97R
c.289G>A
NM_016033.3
p.R120H
c.359G>A