Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_145061.6
p.R27*
c.79C>T
NM_145061.6
p.Q70delFs
c.208delG
NM_145061.6
p.Q70fs
c.208_209fs
NM_145061.6
p.V187I
c.559G>A
NM_145061.6
p.D335E
c.1005C>G
NM_145061.6
p.D335E
c.1005C>A
NM_145061.6
p.L374F
c.1120C>T
NM_145061.6
p.T254A
c.760A>G
NM_145061.6
p.L375F
c.1125A>T
NM_145061.6
p.L375F
c.1125A>C
NM_145061.6
p.M1ins1
c.1_2insTTT
NM_145061.6
p.A28V
c.83C>T