Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_020423.7
p.Q567R
c.1700A>G
NM_020423.7
p.R337Q
c.1010G>A
NM_020423.7
p.G543A
c.1628G>C
NM_020423.7
p.R61H
c.182G>A
NM_020423.7
p.M619L
c.1855A>T
NM_020423.7
p.P17T
c.49C>A
NM_020423.7
p.V41fs
c.121_122fs
NM_020423.7
p.N51H
c.151A>C
NM_020423.7
p.R61C
c.181C>T
NM_020423.7
p.H62H
c.186C>T
NM_020423.7
p.I112N
c.335T>A
NM_020423.7
p.Q161*
c.481C>T