Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_144579.3
p.A13del1
c.37_38delAGC
NM_144579.3
p.E57_R58Splc
c.172-2A>G
NM_144579.3
p.T117M
c.350C>T
NM_144579.3
p.A253V
c.758C>T
NM_144579.3
p.P260T
c.778C>A
NM_144579.3
p.P268L
c.803C>T
NM_144579.3
p.A12_A13del1
c.36_38delGCC
NM_144579.3
p.A15V
c.44C>T
NM_144579.3
p.P24S
c.70C>T
NM_144579.3
p.P24L
c.71C>T
NM_144579.3
p.S36_Y38del3
c.106_113del9
NM_144579.3
p.L53L
c.159C>G