Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001007530.3
p.R24*
c.70C>T
NM_001007530.3
p.R24Q
c.71G>A
NM_001007530.3
p.L87R
c.260T>G
NM_001007530.3
p.A103V
c.308C>T
NM_001007530.3
p.C5S
c.13T>A
NM_001007530.3
p.C5S
c.14G>C
NM_001007530.3
p.N16N
c.48T>C
NM_001007530.3
p.R29T
c.86G>C
NM_001007530.3
p.H33R
c.98A>G
NM_001007530.3
p.E80G
c.239A>G
NM_001007530.3
p.I82T
c.245T>C
NM_001007530.3
p.A88Splc
c.262+1G>A