Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_004952.5
p.V190M
c.568G>A
NM_004952.5
p.A2delFs
c.5_6delCG
NM_004952.5
p.A3G
c.8C>G
NM_004952.5
p.A3V
c.8C>T
NM_004952.5
p.A4G
c.11C>G
NM_004952.5
p.P5_L6del2
c.13_17del6
NM_004952.5
p.L11_L12ins0
c.33_35dupGCT
NM_004952.5
p.L11_L12del1
c.33_35delGCT
NM_004952.5
p.L12del1
c.34_35delCTC
NM_004952.5
p.H33R
c.98A>G
NM_004952.5
p.H43Splc
c.128+7C>T
NM_004952.5
p.R45W
c.133C>T