Papers
RefSeq ID
Protein change
DNA change
1–12 of 238 variants
NM_001141947.3
p.L3insFs
c.8_9ins10
NM_001141947.3
p.K8_L9ins10
c.22_26ins30
NM_001141947.3
p.R460Q
c.1379G>A
NM_001141947.3
p.V571ins1
c.1711_1712insCTT
NM_001141947.3
p.D572ins1
c.1714_1715insCTC
NM_001141947.3
p.E592K
c.1774G>A
NM_001141947.3
p.T691_K692delFs
c.2072_2075del4
NM_001141947.3
p.L3fs
c.7_8fs
NM_001141947.3
p.Q58*
c.172C>T
NM_001141947.3
p.E283*
c.847G>T
NM_001141947.3
p.W332delFs
c.994_995delTG
NM_001141947.3
p.E349G
c.1046A>G