Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_006111.3
p.K375R
c.1124A>G
NM_006111.3
p.G252insFs
c.754_755insCT
NM_006111.3
p.S53N
c.158G>A
NM_006111.3
p.V317I
c.949G>A
NM_006111.3
p.T15M
c.44C>T
NM_006111.3
p.T50delFs
c.149delG
NM_006111.3
p.G57R
c.169G>C
NM_006111.3
p.A125S
c.373G>T
NM_006111.3
p.M217V
c.649A>G
NM_006111.3
p.G243E
c.728G>A
NM_006111.3
p.A267T
c.799G>A
NM_006111.3
p.G373insFs
c.1119dupT