Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_207419.3
p.S200R
c.598A>C
NM_207419.3
p.S200R
c.600C>G
NM_207419.3
p.S200R
c.600C>A
NM_207419.3
p.D46N
c.136G>A
NM_207419.3
p.G70Splc
c.208+9C>T
NM_207419.3
p.R78P
c.233G>C
NM_207419.3
p.R80Q
c.239G>A
NM_207419.3
p.S84C
c.250A>T
NM_207419.3
p.R98C
c.292C>T
NM_207419.3
p.P108S
c.322C>T
NM_207419.3
p.A117T
c.349G>A
NM_207419.3
p.G162V
c.485G>T