Papers
RefSeq ID
Protein change
DNA change
1–12 of 480 variants
NM_030665.4
p.R960*
c.2878C>T
NM_030665.4
p.Q1035insFs
c.3103_3104insC
NM_030665.4
p.Q1562R
c.4685A>G
NM_030665.4
p.S1808N
c.5423G>A
NM_030665.4
p.P483delFs
c.1449delC
NM_030665.4
p.Q1035delFs
c.3103delC
NM_030665.4
p.P1755delFs
c.5265delC
NM_030665.4
p.S1212G
c.3634A>G
NM_030665.4
p.P1267delFs
c.3801delC
NM_030665.4
p.G90A
c.269G>C
NM_030665.4
p.P165T
c.493C>A
NM_030665.4
p.Q278del1
c.832_834delCAG