Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_001768.7
p.G111S
c.331G>A
NM_001768.7
p.H17Splc
c.49+2T>G
NM_001768.7
p.S22G
c.64A>G
NM_001768.7
p.G170fs
c.508_509fs
NM_001768.7
p.L189L
c.565T>C
NM_001768.7
p.M1L
c.1A>T
NM_001768.7
p.M1V
c.1A>G
NM_001768.7
p.M1L
c.1A>C
NM_001768.7
p.M1R
c.2T>G
NM_001768.7
p.M1T
c.2T>C
NM_001768.7
p.A2T
c.4G>A
NM_001768.7
p.A2V
c.5C>T