Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001130514.3
p.A81V
c.242C>T
NM_001130514.3
p.Q6*
c.16C>T
NM_001130514.3
p.P19fs
c.55_56fs
NM_001130514.3
p.P20insFs
c.58dupC
NM_001130514.3
p.Q22delFs
c.64delC
NM_001130514.3
p.Q22fs
c.64_65fs
NM_001130514.3
p.Q22*
c.64C>T
NM_001130514.3
p.L24P
c.71T>C
NM_001130514.3
p.L24R
c.71T>G
NM_001130514.3
p.R25R
c.75G>A
NM_001130514.3
p.I32F
c.94A>T
NM_001130514.3
p.Q35*
c.103C>T