Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_031480.3
p.D64del1
c.190_191delGAC
NM_031480.3
p.R114Q
c.341G>A
NM_031480.3
p.S22delFs
c.64delT
NM_031480.3
p.I207V
c.619A>G
NM_031480.3
p.D324N
c.970G>A
NM_031480.3
p.D69del1
c.205_206delGAC
NM_031480.3
p.K208R
c.623A>G
NM_031480.3
p.D324A
c.971A>C
NM_031480.3
p.M1V
c.1A>G
NM_031480.3
p.M1K
c.2T>A
NM_031480.3
p.M1I
c.3G>A
NM_031480.3
p.R10Q
c.29G>A