Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_016142.3
p.S280L
c.839C>T
NM_016142.3
p.G135V
c.404G>T
NM_016142.3
p.L5P
c.14T>C
NM_016142.3
p.L5L
c.15C>G
NM_016142.3
p.A7A
c.21C>G
NM_016142.3
p.S29P
c.85T>C
NM_016142.3
p.G44G
c.132G>A
NM_016142.3
p.E51E
c.153A>G
NM_016142.3
p.V54Splc
c.161-1G>C
NM_016142.3
p.V55V
c.165C>A
NM_016142.3
p.E69_L70Splc
c.207+42A>G
NM_016142.3
p.E69_L70Splc
c.207+87G>A