Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_018645.6
p.P4P
c.12C>G
NM_018645.6
p.R23P
c.68G>C
NM_018645.6
p.R49Q
c.146G>A
NM_018645.6
p.E56Q
c.166G>C
NM_018645.6
p.R81fs
c.241_242fs
NM_018645.6
p.R81_A82delFs
c.241_244del4
NM_018645.6
p.R83R
c.249C>G
NM_018645.6
p.R83fs
c.247_248fs
NM_018645.6
p.R83_E84delFs
c.247_250del4
NM_018645.6
p.R85R
c.255C>G
NM_018645.6
p.L135L
c.405G>A
NM_018645.6
p.E137E
c.411G>A