Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_001350605.2
p.D195A
c.584A>C
NM_001350605.2
p.S329fs
c.985_986fs
NM_001350605.2
p.D389A
c.1166A>C
NM_001350605.2
p.K397del1
c.1189_1190delAAG
NM_001350605.2
p.P15L
c.44C>T
NM_001350605.2
p.G28_G31ins1
c.84_92dup9
NM_001350605.2
p.E47K
c.139G>A
NM_001350605.2
p.T51N
c.152C>A
NM_001350605.2
p.S70T
c.208T>A
NM_001350605.2
p.S70S
c.210G>A
NM_001350605.2
p.R77H
c.230G>A
NM_001350605.2
p.R77P
c.230G>C