Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_199296.3
p.A94T
c.280G>A
NM_199296.3
p.R139K
c.416G>A
NM_199296.3
p.R499Q
c.1496G>A
NM_199296.3
p.D6D
c.18C>T
NM_199296.3
p.V29L
c.85G>T
NM_199296.3
p.V29L
c.85G>C
NM_199296.3
p.L34fs
c.100_101fs
NM_199296.3
p.T43A
c.127A>G
NM_199296.3
p.T43M
c.128C>T
NM_199296.3
p.K58R
c.173A>G
NM_199296.3
p.P64R
c.191C>G
NM_199296.3
p.L66I
c.196C>A