Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_198075.4
p.L165P
c.494T>C
NM_198075.4
p.E254*
c.760G>T
NM_198075.4
p.D523H
c.1567G>C
NM_198075.4
p.L140P
c.419T>C
NM_198075.4
p.P351insFs
c.1053dupC
NM_198075.4
p.R12Q
c.35G>A
NM_198075.4
p.R109Splc
c.326+1G>A
NM_198075.4
p.R300H
c.899G>A
NM_198075.4
p.R507G
c.1519C>G
NM_198075.4
p.R81C
c.241C>T
NM_198075.4
p.R81P
c.242G>C
NM_198075.4
p.K141_E142Splc
c.423+1G>A