Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001024594.3
p.D96D
c.288T>C
NM_001024594.3
p.Q5K
c.13C>A
NM_001024594.3
p.Q5*
c.13C>T
NM_001024594.3
p.R9L
c.26G>T
NM_001024594.3
p.A12V
c.35C>T
NM_001024594.3
p.A21V
c.62C>T
NM_001024594.3
p.E46Q
c.136G>C
NM_001024594.3
p.A53V
c.158C>T
NM_001024594.3
p.A108T
c.322G>A
NM_001024594.3
p.G113delFs
c.337delG
NM_001024594.3
p.G113fs
c.337_338fs
NM_001024594.3
p.E114*
c.340G>T