Papers
RefSeq ID
Protein change
DNA change
1–12 of 407 variants
NM_000039.3
p.R173C
c.517C>T
NM_000039.3
p.P28L
c.83C>T
NM_000039.3
p.R173P
c.518G>C
NM_000039.3
p.A61T
c.181G>A
NM_000039.3
p.K131del1
c.391_392delCTT
NM_000039.3
p.L99P
c.296T>C
NM_000039.3
p.F95Y
c.284T>A
NM_000039.3
p.L202P
c.605T>C
NM_000039.3
p.W74R
c.220T>C
NM_000039.3
p.W74R
c.220T>A
NM_000039.3
p.A154fs
c.460_461fs
NM_000039.3
p.S60A
c.178T>G