Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001029858.4
p.R126*
c.376C>T
NM_001029858.4
p.V184L
c.550G>C
NM_001029858.4
p.V184L
c.550G>T
NM_001029858.4
p.R371C
c.1111C>T
NM_001029858.4
p.P376H
c.1127C>A
NM_001029858.4
p.Q12R
c.35A>G
NM_001029858.4
p.A17_P19delFs
c.51_57del7
NM_001029858.4
p.E32K
c.94G>A
NM_001029858.4
p.G38W
c.112G>T
NM_001029858.4
p.R51_N57del7
c.151_170del21
NM_001029858.4
p.R51T
c.152G>C
NM_001029858.4
p.R51M
c.152G>T