Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_024333.3
p.P210L
c.629C>T
NM_024333.3
p.L232V
c.694C>G
NM_024333.3
p.E20D
c.60A>C
NM_024333.3
p.E20D
c.60A>T
NM_024333.3
p.A38V
c.113C>T
NM_024333.3
p.Q44_E45del1
c.132_134delGGA
NM_024333.3
p.E48K
c.142G>A
NM_024333.3
p.Q83H
c.249G>C
NM_024333.3
p.Q83H
c.249G>T
NM_024333.3
p.S94Y
c.281C>A
NM_024333.3
p.E111*
c.331G>T
NM_024333.3
p.Q115H
c.345G>C