Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_020972.3
p.A444T
c.1330G>A
NM_020972.3
p.C481Y
c.1442G>A
NM_020972.3
p.K13_R14Splc
c.40-1879C>T
NM_020972.3
p.L19M
c.55C>A
NM_020972.3
p.S39N
c.116G>A
NM_020972.3
p.G42W
c.124G>T
NM_020972.3
p.R43R
c.129G>C
NM_020972.3
p.T50M
c.149C>T
NM_020972.3
p.T50K
c.149C>A
NM_020972.3
p.P81R
c.242C>G
NM_020972.3
p.K87R
c.260A>G
NM_020972.3
p.G99S
c.295G>A