Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001199198.3
p.V492delFs
c.1475_1476delTG
NM_001199198.3
p.C31S
c.91T>A
NM_001199198.3
p.C31S
c.92G>C
NM_001199198.3
p.D563Splc
c.1687+1G>A
NM_001199198.3
p.K292_D293Splc
c.876+1G>C
NM_001199198.3
p.V492fs
c.1474_1475fs
NM_001199198.3
p.R518Q
c.1553G>A
NM_001199198.3
p.H534fs
c.1600_1601fs
NM_001199198.3
p.D563Splc
c.1687+2T>A
NM_001199198.3
p.D563Splc
c.1687+2T>G
NM_001199198.3
p.D563fs
c.1687_1688fs
NM_001199198.3
p.Y631_I632insFs
c.1893_1894insA