Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_002727.4
p.R31Q
c.92G>A
NM_002727.4
p.R39G
c.115C>G
NM_002727.4
p.P68R
c.203C>G
NM_002727.4
p.M2T
c.5T>C
NM_002727.4
p.R31insFs
c.91_92insA
NM_002727.4
p.R31fs
c.91_92fs
NM_002727.4
p.C40S
c.118T>A
NM_002727.4
p.N48I
c.143A>T
NM_002727.4
p.L59L
c.175C>T
NM_002727.4
p.L74P
c.221T>C
NM_002727.4
p.P76L
c.227C>T
NM_002727.4
p.E91_D92insA
c.271_275ins3