Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_205836.3
p.C206R
c.616T>C
NM_205836.3
p.R526Q
c.1577G>A
NM_205836.3
p.S592P
c.1774T>C
NM_205836.3
p.M30R
c.89T>G
NM_205836.3
p.R169H
c.506G>A
NM_205836.3
p.S365Splc
c.1093+532C>G
NM_205836.3
p.R621H
c.1862G>A
NM_205836.3
p.N697insFs
c.2090dupA
NM_205836.3
p.N697fs
c.2089_2090fs
NM_205836.3
p.S816F
c.2447C>T
NM_205836.3
p.V1183I
c.3547G>A
NM_205836.3
p.K5R
c.14A>G