Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_004997.3
p.Q286*
c.856C>T
NM_004997.3
p.A389V
c.1166C>T
NM_004997.3
p.M1I
c.3G>A
NM_004997.3
p.Q48L
c.143A>T
NM_004997.3
p.E190V
c.569A>T
NM_004997.3
p.K266I
c.797A>T
NM_004997.3
p.D365Splc
c.1094-1G>A
NM_004997.3
p.P426L
c.1277C>T
NM_004997.3
p.M1V
c.1A>G
NM_004997.3
p.M1I
c.3G>T
NM_004997.3
p.M1I
c.3G>C
NM_004997.3
p.N5fs
c.13_14fs