Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
NM_015043.4
p.E819K
c.2455G>A
NM_015043.4
p.K1102T
c.3305A>C
NM_015043.4
p.V48M
c.142G>A
NM_015043.4
p.S229C
c.686C>G
NM_015043.4
p.A333T
c.997G>A
NM_015043.4
p.V706I
c.2116G>A
NM_015043.4
p.R807Q
c.2420G>A
NM_015043.4
p.F904F
c.2712C>T
NM_015043.4
p.G1116G
c.3348C>T
NM_015043.4
p.Q1119P
c.3356A>C
NM_015043.4
p.D1133D
c.3399C>T
NM_015043.4
p.Q64*
c.190C>T