Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_013314.4
p.G30R
c.88G>C
NM_013314.4
p.R16Splc
c.47+3A>T
NM_013314.4
p.A158S
c.472G>T
NM_013314.4
p.P57P
c.171T>C
NM_013314.4
p.R282*
c.844C>T
NM_013314.4
p.I308T
c.923T>C
NM_013314.4
p.K37R
c.110A>G
NM_013314.4
p.E60K
c.178G>A
NM_013314.4
p.D76N
c.226G>A
NM_013314.4
p.Q103R
c.308A>G
NM_013314.4
p.P137A
c.409C>G
NM_013314.4
p.E145fs
c.433_434fs