Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_020243.5
p.P13L
c.38C>T
NM_020243.5
p.E18V
c.53A>T
NM_020243.5
p.A6V
c.17C>T
NM_020243.5
p.E33insFs
c.97_98ins8
NM_020243.5
p.E34fs
c.100_101fs
NM_020243.5
p.D35N
c.103G>A
NM_020243.5
p.E39_L40Splc
c.117+1G>T
NM_020243.5
p.G50G
c.150C>T
NM_020243.5
p.K76R
c.227A>G
NM_020243.5
p.F80Y
c.239T>A
NM_020243.5
p.F80S
c.239T>C
NM_020243.5
p.V96A
c.287T>C