Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_001008710.3
p.K100E
c.298A>G
NM_001008710.3
p.R38Q
c.113G>A
NM_001008710.3
p.E39A
c.116A>C
NM_001008710.3
p.P46L
c.137C>T
NM_001008710.3
p.L81M
c.241T>A
NM_001008710.3
p.T103A
c.307A>G
NM_001008710.3
p.N2S
c.5A>G
NM_001008710.3
p.E10D
c.30G>C
NM_001008710.3
p.E10D
c.30G>T
NM_001008710.3
p.T12A
c.34A>G
NM_001008710.3
p.E21G
c.62A>G
NM_001008710.3
p.E22_V23Splc
c.67-20974A>T