Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_173804.5
p.C14F
c.41G>T
NM_173804.5
p.L10V
c.28C>G
NM_173804.5
p.E42K
c.124G>A
NM_173804.5
p.S46fs
c.136_137fs
NM_173804.5
p.S46_A50delFs
c.136_148del13
NM_173804.5
p.W65*
c.194G>A
NM_173804.5
p.W65*
c.195G>A
NM_173804.5
p.G72S
c.214G>A
NM_173804.5
p.S84S
c.252G>A
NM_173804.5
p.L158L
c.472C>T
NM_173804.5
p.R164H
c.491G>A
NM_173804.5
p.G173S
c.517G>A