Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_018268.4
p.V329I
c.985G>A
NM_018268.4
p.R441H
c.1322G>A
NM_018268.4
p.G61D
c.182G>A
NM_018268.4
p.R260C
c.778C>T
NM_018268.4
p.E17_K18Splc
c.51+11G>A
NM_018268.4
p.T34delFs
c.102delA
NM_018268.4
p.V46L
c.136G>T
NM_018268.4
p.V46L
c.136G>C
NM_018268.4
p.V68A
c.203T>C
NM_018268.4
p.I91T
c.272T>C
NM_018268.4
p.T108P
c.322A>C
NM_018268.4
p.D112G
c.335A>G