Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001001661.3
p.H516R
c.1547A>G
NM_001001661.3
p.A583V
c.1748C>T
NM_001001661.3
p.S595P
c.1783T>C
NM_001001661.3
p.T598I
c.1793C>T
NM_001001661.3
p.M642T
c.1925T>C
NM_001001661.3
p.M1I
c.3G>A
NM_001001661.3
p.T40T
c.120C>T
NM_001001661.3
p.I58_T59delFs
c.172_176del5
NM_001001661.3
p.Q63*
c.187C>T
NM_001001661.3
p.P146L
c.437C>T
NM_001001661.3
p.N155S
c.464A>G
NM_001001661.3
p.S159fs
c.475_476fs