Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_032806.6
p.R158H
c.473G>A
NM_032806.6
p.R445*
c.1333C>T
NM_032806.6
p.W197*
c.590G>A
NM_032806.6
p.W197*
c.591G>A
NM_032806.6
p.P253L
c.758C>T
NM_032806.6
p.L11_V12delFs
c.32_35del4
NM_032806.6
p.L32_E35del4
c.94_104del12
NM_032806.6
p.M165T
c.494T>C
NM_032806.6
p.V167I
c.499G>A
NM_032806.6
p.R217W
c.649C>T
NM_032806.6
p.K238_T240delFs
c.713_719del7
NM_032806.6
p.R394Q
c.1181G>A