Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_016128.4
p.I425V
c.1273A>G
NM_016128.4
p.K652E
c.1954A>G
NM_016128.4
p.G13V
c.38G>T
NM_016128.4
p.I55L
c.163A>C
NM_016128.4
p.I55L
c.163A>T
NM_016128.4
p.M1T
c.2T>C
NM_016128.4
p.K3*
c.7A>T
NM_016128.4
p.G13V
c.38G>T
NM_016128.4
p.V27I
c.79G>A
NM_016128.4
p.E30_A31Splc
c.90+1G>A
NM_016128.4
p.A45S
c.133G>T
NM_016128.4
p.Q57_G58Splc
c.171+4A>G