Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_004691.5
p.D44Splc
c.131-1G>A
NM_004691.5
p.M1T
c.2T>C
NM_004691.5
p.A162V
c.485C>T
NM_004691.5
p.R237P
c.710G>C
NM_004691.5
p.P249S
c.745C>T
NM_004691.5
p.M1insFs
c.3dupG
NM_004691.5
p.P5R
c.14C>G
NM_004691.5
p.F9L
c.25T>C
NM_004691.5
p.V11M
c.31G>A
NM_004691.5
p.F9_V11insFs
c.26_33dup8
NM_004691.5
p.D12N
c.34G>A
NM_004691.5
p.Y15N
c.43T>A