Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
NM_174878.3
p.N48K
c.144T>G
NM_174878.3
p.N48K
c.144T>A
NM_174878.3
p.Y176*
c.528T>G
NM_174878.3
p.Y176*
c.528T>A
NM_174878.3
p.C40G
c.118T>G
NM_174878.3
p.Y63*
c.189C>A
NM_174878.3
p.Y63*
c.189C>G
NM_174878.3
p.F85Splc
c.254-649T>G
NM_174878.3
p.M120K
c.359T>A
NM_174878.3
p.S50fs
c.148_149fs
NM_174878.3
p.L150P
c.449T>C
NM_174878.3
p.S50_G51Fs
c.149_152delinsTGTCCAATFs