Papers
RefSeq ID
Protein change
DNA change
1–12 of 230 variants
NM_014669.5
p.E14K
c.40G>A
NM_014669.5
p.G591V
c.1772G>T
NM_014669.5
p.R388W
c.1162C>T
NM_014669.5
p.Y629C
c.1886A>G
NM_014669.5
p.Q15*
c.43C>T
NM_014669.5
p.Y192C
c.575A>G
NM_014669.5
p.L513Splc
c.1537+1G>A
NM_014669.5
p.K442delFs
c.1326delG
NM_014669.5
p.L695S
c.2084T>C
NM_014669.5
p.D712_I713Splc
c.2137-18G>A
NM_014669.5
p.K243*
c.727A>T
NM_014669.5
p.K442fs
c.1324_1325fs