Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_032802.4
p.V245Splc
c.733+1G>A
NM_032802.4
p.A443Splc
c.1328-1G>A
NM_032802.4
p.N126D
c.376A>G
NM_032802.4
p.G34E
c.101G>A
NM_032802.4
p.T475S
c.1423A>T
NM_032802.4
p.T475S
c.1424C>G
NM_032802.4
p.M1V
c.1A>G
NM_032802.4
p.C95delFs
c.284delC
NM_032802.4
p.I225L
c.673A>T
NM_032802.4
p.V341M
c.1021G>A
NM_032802.4
p.D412A
c.1235A>C
NM_032802.4
p.M1L
c.1A>C