Papers
RefSeq ID
Protein change
DNA change
1–12 of 106 variants
NM_001944.3
p.R287*
c.859C>T
NM_001944.3
p.Q891R
c.2672A>G
NM_001944.3
p.T912A
c.2734A>G
NM_001944.3
p.K53T
c.158A>C
NM_001944.3
p.A55P
c.163G>C
NM_001944.3
p.V509M
c.1525G>A
NM_001944.3
p.V509G
c.1526T>G
NM_001944.3
p.R575W
c.1723C>T
NM_001944.3
p.E701*
c.2101G>T
NM_001944.3
p.S759insFs
c.2275_2276insT
NM_001944.3
p.S771F
c.2312C>T
NM_001944.3
p.K854*
c.2560A>T