Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_001113407.3
p.S263N
c.788G>A
NM_001113407.3
p.R299Q
c.896G>A
NM_001113407.3
p.M1T
c.2T>C
NM_001113407.3
p.F15L
c.43T>C
NM_001113407.3
p.F15L
c.45C>G
NM_001113407.3
p.F15L
c.45C>A
NM_001113407.3
p.L53P
c.158T>C
NM_001113407.3
p.G56R
c.166G>A
NM_001113407.3
p.Q66*
c.196C>T
NM_001113407.3
p.D68E
c.204C>A
NM_001113407.3
p.E83E
c.249G>A
NM_001113407.3
p.E83_E84Splc
c.250-3T>G