Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_017719.5
p.D158A
c.473A>C
NM_017719.5
p.L672F
c.2016G>C
NM_017719.5
p.L672F
c.2016G>T
NM_017719.5
p.T173A
c.517A>G
NM_017719.5
p.K470N
c.1410G>C
NM_017719.5
p.K470N
c.1410G>T
NM_017719.5
p.R6Q
c.17G>A
NM_017719.5
p.A13V
c.38C>T
NM_017719.5
p.G25D
c.74G>A
NM_017719.5
p.V29E
c.86T>A
NM_017719.5
p.V42M
c.124G>A
NM_017719.5
p.G58G
c.174T>A