Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_024744.17
p.Y571F
c.1712A>T
NM_024744.17
p.T716insFs
c.2146dupA
NM_024744.17
p.T716fs
c.2146_2147fs
NM_024744.17
p.D14A
c.41A>C
NM_024744.17
p.D14E
c.42C>A
NM_024744.17
p.D14E
c.42C>G
NM_024744.17
p.G15S
c.43G>A
NM_024744.17
p.F38L
c.114T>A
NM_024744.17
p.G39A
c.116G>C
NM_024744.17
p.Q93*
c.277C>T
NM_024744.17
p.G96R
c.286G>A
NM_024744.17
p.G96R
c.286G>C