Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001013615.3
p.M60L
c.178A>C
NM_001013615.3
p.M60L
c.178A>T
NM_001013615.3
p.T4I
c.11C>T
NM_001013615.3
p.E25K
c.73G>A
NM_001013615.3
p.R29C
c.85C>T
NM_001013615.3
p.M60V
c.178A>G
NM_001013615.3
p.L66_A67Splc
c.199-7396C>T
NM_001013615.3
p.K75R
c.224A>G
NM_001013615.3
p.Q78R
c.233A>G
NM_001013615.3
p.R97W
c.289C>T
NM_001013615.3
p.S129N
c.386G>A
NM_001013615.3
p.T150_V151delFs
c.450_451delAG