Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_030806.4
p.E98K
c.292G>A
NM_030806.4
p.L63_E64Splc
c.190-23192C>T
NM_030806.4
p.A67V
c.200C>T
NM_030806.4
p.V71I
c.211G>A
NM_030806.4
p.E78K
c.232G>A
NM_030806.4
p.E94_S95delFs
c.280_284del5
NM_030806.4
p.E94fs
c.280_281fs
NM_030806.4
p.F100L
c.298T>C
NM_030806.4
p.F100L
c.300C>A
NM_030806.4
p.F100L
c.300C>G
NM_030806.4
p.I107insFs
c.319dupA
NM_030806.4
p.K109_G110Splc
c.328-1G>T