Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_001039886.4
p.C233*
c.699T>A
NM_001039886.4
p.A379fs
c.1135_1136fs
NM_001039886.4
p.Y427*
c.1281C>A
NM_001039886.4
p.Y427*
c.1281C>G
NM_001039886.4
p.K458*
c.1372A>T
NM_001039886.4
p.N518S
c.1553A>G
NM_001039886.4
p.Y528*
c.1584C>A
NM_001039886.4
p.Y528*
c.1584C>G
NM_001039886.4
p.L588fs
c.1762_1763fs
NM_001039886.4
p.G619R
c.1855G>A
NM_001039886.4
p.G619R
c.1855G>C
NM_001039886.4
p.Y693H
c.2077T>C