Papers
RefSeq ID
Protein change
DNA change
1–12 of 313 variants
NM_130810.4
p.E417*
c.1249G>T
NM_130810.4
p.M1I
c.3G>A
NM_130810.4
p.S420C
c.1259C>G
NM_130810.4
p.R270*
c.808C>T
NM_130810.4
p.V91I
c.271G>A
NM_130810.4
p.Y128*
c.384C>G
NM_130810.4
p.Y128*
c.384C>A
NM_130810.4
p.P2S
c.4C>T
NM_130810.4
p.L130_S131delFs
c.390_393del4
NM_130810.4
p.I195delFs
c.583delT
NM_130810.4
p.E390_L393del4
c.1168_1178del12
NM_130810.4
p.W162*
c.485G>A