Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001330.5
p.A92T
c.274G>A
NM_001330.5
p.H31L
c.92A>T
NM_001330.5
p.A92E
c.275C>A
NM_001330.5
p.P59L
c.176C>T
NM_001330.5
p.A152P
c.454G>C
NM_001330.5
p.M1V
c.1A>G
NM_001330.5
p.S2insFs
c.4dupA
NM_001330.5
p.E9Splc
c.25+3A>T
NM_001330.5
p.D10A
c.29A>C
NM_001330.5
p.D14N
c.40G>A
NM_001330.5
p.S15insFs
c.45dupC
NM_001330.5
p.S15delFs
c.45delC