Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_020127.3
p.Q18R
c.53A>G
NM_020127.3
p.T175M
c.524C>T
NM_020127.3
p.M1T
c.2T>C
NM_020127.3
p.R386*
c.1156C>T
NM_020127.3
p.G3R
c.7G>A
NM_020127.3
p.G3R
c.7G>C
NM_020127.3
p.A20_G21Splc
c.60+1G>A
NM_020127.3
p.A20_G21Splc
c.60+43C>T
NM_020127.3
p.L28P
c.83T>C
NM_020127.3
p.A46V
c.137C>T
NM_020127.3
p.M53L
c.157A>T
NM_020127.3
p.S58*
c.173C>A