Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_018360.3
p.I246V
c.736A>G
NM_018360.3
p.Q323fs
c.967_968fs
NM_018360.3
p.Q323delFs
c.968_969delAG
NM_018360.3
p.E6G
c.17A>G
NM_018360.3
p.E6E
c.18G>A
NM_018360.3
p.G72C
c.214G>T
NM_018360.3
p.T102T
c.306G>C
NM_018360.3
p.S172fs
c.514_515fs
NM_018360.3
p.S172_V173delFs
c.515_519del5
NM_018360.3
p.S172N
c.515G>A
NM_018360.3
p.A185V
c.554C>T
NM_018360.3
p.K191delFs
c.572_573delAA