Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_030788.4
p.L397F
c.1189C>T
NM_030788.4
p.E192Q
c.574G>C
NM_030788.4
p.D349G
c.1046A>G
NM_030788.4
p.I105I
c.315C>T
NM_030788.4
p.L175P
c.524T>C
NM_030788.4
p.E343_K344Splc
c.1030-9T>C
NM_030788.4
p.R416C
c.1246C>T
NM_030788.4
p.P432L
c.1295C>T
NM_030788.4
p.I10T
c.29T>C
NM_030788.4
p.S13G
c.37A>G
NM_030788.4
p.P24T
c.70C>A
NM_030788.4
p.P24L
c.71C>T