Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_016540.4
p.R60S
c.178C>A
NM_016540.4
p.R221H
c.662G>A
NM_016540.4
p.R321C
c.961C>T
NM_016540.4
p.P367delFs
c.1100delG
NM_016540.4
p.Y61D
c.181T>G
NM_016540.4
p.E64A
c.191A>C
NM_016540.4
p.S65A
c.193T>G
NM_016540.4
p.K98E
c.292A>G
NM_016540.4
p.S107fs
c.319_320fs
NM_016540.4
p.S107insFs
c.319dupA
NM_016540.4
p.R131C
c.391C>T
NM_016540.4
p.S158L
c.473C>T