Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_207506.3
p.M1I
c.3G>T
NM_207506.3
p.M1I
c.3G>C
NM_207506.3
p.M1I
c.3G>A
NM_207506.3
p.A19T
c.55G>A
NM_207506.3
p.Q27K
c.79C>A
NM_207506.3
p.S35C
c.104C>G
NM_207506.3
p.I38I
c.114T>A
NM_207506.3
p.Q57fs
c.169_170fs
NM_207506.3
p.Q57_K64delFs
c.169_190del22
NM_207506.3
p.Q79R
c.236A>G
NM_207506.3
p.D81Y
c.241G>T
NM_207506.3
p.D81N
c.241G>A