Papers
RefSeq ID
Protein change
DNA change
1–12 of 201 variants
NM_002777.4
p.Q214*
c.640C>T
NM_002777.4
p.L10L
c.28C>T
NM_002777.4
p.V13M
c.37G>A
NM_002777.4
p.V119I
c.355G>A
NM_002777.4
p.Q123_L124Splc
c.369+1G>A
NM_002777.4
p.S203A
c.607T>G
NM_002777.4
p.M1V
c.1A>G
NM_002777.4
p.M1T
c.2T>C
NM_002777.4
p.R4R
c.12G>A
NM_002777.4
p.R4R
c.12G>C
NM_002777.4
p.Q35R
c.104A>G
NM_002777.4
p.R48W
c.142C>T