Papers
RefSeq ID
Protein change
DNA change
NM_004124.3
p.E16delFs
c.47delT
NM_004124.3
p.M1_S2Splc
c.4-74A>G
NM_004124.3
p.M1_S2Splc
c.4-1G>C
NM_004124.3
p.L14F
c.42A>T
NM_004124.3
p.R19delFs
c.57delT
NM_004124.3
p.E26A
c.77A>C
NM_004124.3
p.I36I
c.108T>C
NM_004124.3
p.Y73C
c.218A>G
NM_004124.3
p.C96Y
c.287G>A
NM_004124.3
p.Y104F
c.311A>T