Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_014873.3
p.K200E
c.598A>G
NM_014873.3
p.W13_L14insFs
c.38_42dup5
NM_014873.3
p.L15fs
c.43_44fs
NM_014873.3
p.N28S
c.83A>G
NM_014873.3
p.R53insFs
c.157_158insC
NM_014873.3
p.V69A
c.206T>C
NM_014873.3
p.K92R
c.275A>G
NM_014873.3
p.N170ins15
c.509_510ins45
NM_014873.3
p.N170_Y171insFs
c.510_511insA
NM_014873.3
p.G186D
c.557G>A
NM_014873.3
p.R192*
c.574C>T
NM_014873.3
p.G216E
c.647G>A