Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_147195.4
p.E130K
c.388G>A
NM_147195.4
p.R201*
c.601A>T
NM_147195.4
p.R201*
c.601A>T
NM_147195.4
p.R225H
c.674G>A
NM_147195.4
p.Y688C
c.2063A>G
NM_147195.4
p.E799del1
c.2395_2397delTTC
NM_147195.4
p.D46N
c.136G>A
NM_147195.4
p.A47G
c.140C>G
NM_147195.4
p.K67E
c.199A>G
NM_147195.4
p.C116S
c.346T>A
NM_147195.4
p.C116S
c.347G>C
NM_147195.4
p.A125T
c.373G>A