Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001417.7
p.E134Q
c.400G>C
NM_001417.7
p.L471Q
c.1412T>A
NM_001417.7
p.Q496E
c.1486C>G
NM_001417.7
p.M1I
c.3G>A
NM_001417.7
p.T32A
c.94A>G
NM_001417.7
p.Y33C
c.98A>G
NM_001417.7
p.T54A
c.160A>G
NM_001417.7
p.A65V
c.194C>T
NM_001417.7
p.A79V
c.236C>T
NM_001417.7
p.S93S
c.279G>C
NM_001417.7
p.T108K
c.323C>A
NM_001417.7
p.E109K
c.325G>A