Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001102564.3
p.M1V
c.1A>G
NM_001102564.3
p.E34K
c.100G>A
NM_001102564.3
p.M1K
c.2T>A
NM_001102564.3
p.R25*
c.73C>T
NM_001102564.3
p.A26fs
c.76_77fs
NM_001102564.3
p.A26delFs
c.77delC
NM_001102564.3
p.E49_T50Splc
c.148-8221G>A
NM_001102564.3
p.S67F
c.200C>T
NM_001102564.3
p.K72Splc
c.215+2T>C
NM_001102564.3
p.F84F
c.252C>T
NM_001102564.3
p.R85H
c.254G>A
NM_052873.3
p.D94delFs
c.280_281delGA