Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_014916.4
p.L780M
c.2338T>A
NM_014916.4
p.R10_L11del1
c.30_32delGCT
NM_014916.4
p.I693T
c.2078T>C
NM_014916.4
p.S977R
c.2929A>C
NM_014916.4
p.S977R
c.2931C>A
NM_014916.4
p.S977R
c.2931C>G
NM_014916.4
p.R134H
c.401G>A
NM_014916.4
p.A862T
c.2584G>A
NM_014916.4
p.P1160Q
c.3479C>A
NM_014916.4
p.P4delFs
c.10_11delCC
NM_014916.4
p.R10_L11del2
c.28_32del6
NM_014916.4
p.L16V
c.46C>G