Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_199461.4
p.A173del1
c.517_518delGCC
NM_199461.4
p.P34T
c.100C>A
NM_199461.4
p.S80_S81del1
c.240_242delCTC
NM_199461.4
p.R246H
c.737G>A
NM_199461.4
p.S83del1
c.247_248delTCC
NM_199461.4
p.P167ins1
c.499_500insCCG
NM_199461.4
p.P76_P77del1
c.228_230delGCC
NM_199461.4
p.P77del1
c.229_230delCCC
NM_199461.4
p.P138L
c.413C>T
NM_199461.4
p.T228_H230del3
c.682_689del9
NM_199461.4
p.P277_P278delFs
c.830_833del4
NM_199461.4
p.E2Q
c.4G>C