Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_002599.5
p.Q14*
c.40C>T
NM_002599.5
p.Q217*
c.649C>T
NM_002599.5
p.D480G
c.1439A>G
NM_002599.5
p.V78_E79Splc
c.235-1G>A
NM_002599.5
p.P149L
c.446C>T
NM_002599.5
p.Q394*
c.1180C>T
NM_002599.5
p.R20*
c.58C>T
NM_002599.5
p.P40_Q41del1
c.119_121delGCG
NM_002599.5
p.Q48_D49Splc
c.145-1G>C
NM_002599.5
p.G121R
c.361G>C
NM_002599.5
p.R226C
c.676C>T
NM_002599.5
p.S275_C276insFs
c.825_826insA