Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_019613.4
p.R109Q
c.326G>A
NM_019613.4
p.R225*
c.673C>T
NM_019613.4
p.Q267*
c.799C>T
NM_019613.4
p.C6Y
c.17G>A
NM_019613.4
p.G23Splc
c.67+1G>T
NM_019613.4
p.M83I
c.249G>A
NM_019613.4
p.G143Splc
c.427+4A>G
NM_019613.4
p.R225Q
c.674G>A
NM_019613.4
p.R226T
c.677G>C
NM_019613.4
p.M1V
c.1A>G
NM_019613.4
p.M1_N2delFs
c.1_5del5
NM_019613.4
p.M1_P5del5
c.1_14del15