Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_001013627.3
p.E196K
c.586G>A
NM_001013627.3
p.R460H
c.1379G>A
NM_001013627.3
p.T758M
c.2273C>T
NM_001013627.3
p.E1023D
c.3069G>C
NM_001013627.3
p.E1023D
c.3069G>T
NM_001013627.3
p.F3S
c.8T>C
NM_001013627.3
p.Q20L
c.59A>T
NM_001013627.3
p.R38Q
c.113G>A
NM_001013627.3
p.Q39R
c.116A>G
NM_001013627.3
p.D53D
c.159C>T
NM_001013627.3
p.L54I
c.160C>A
NM_001013627.3
p.R70Q
c.209G>A