Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_020200.7
p.Y185H
c.553T>C
NM_020200.7
p.Y185H
c.553T>C
NM_020200.7
p.M1I
c.3G>A
NM_020200.7
p.G3A
c.8G>C
NM_020200.7
p.P22L
c.65C>T
NM_020200.7
p.D25E
c.75C>G
NM_020200.7
p.D25E
c.75C>A
NM_020200.7
p.I44insFs
c.131_132ins7
NM_020200.7
p.V50L
c.148G>T
NM_020200.7
p.V50L
c.148G>C
NM_020200.7
p.V104A
c.311T>C
NM_020200.7
p.T131_L132ins7
c.391_395ins21