Papers
RefSeq ID
Protein change
DNA change
1–12 of 160 variants
NM_033343.4
p.R84C
c.250C>T
NM_033343.4
p.N328S
c.983A>G
NM_033343.4
p.L190R
c.569T>G
NM_033343.4
p.Q202_V203Splc
c.607-1G>C
NM_033343.4
p.A210P
c.628G>C
NM_033343.4
p.T99fs
c.295_296fs
NM_033343.4
p.V101A
c.302T>C
NM_033343.4
p.V75I
c.223G>A
NM_033343.4
p.T126M
c.377C>T
NM_033343.4
p.W204*
c.611G>A
NM_033343.4
p.G370S
c.1108G>A
NM_033343.4
p.T90M
c.269C>T