Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_014773.5
p.F128L
c.382T>C
NM_014773.5
p.F128L
c.384C>A
NM_014773.5
p.F128L
c.384C>G
NM_014773.5
p.A247T
c.739G>A
NM_014773.5
p.R3H
c.8G>A
NM_014773.5
p.G6V
c.17G>T
NM_014773.5
p.A11fs
c.31_32fs
NM_014773.5
p.P13A
c.37C>G
NM_014773.5
p.D31H
c.91G>C
NM_014773.5
p.T36I
c.107C>T
NM_014773.5
p.R76H
c.227G>A
NM_014773.5
p.W88_G89Splc
c.264+5G>C