Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_005392.4
p.T987_P988ins5
c.2961_2962ins15
NM_005392.4
p.K492fs
c.1474_1475fs
NM_005392.4
p.K490delFs
c.1468delA
NM_005392.4
p.P988P
c.2964G>T
NM_005392.4
p.Q917*
c.2749C>T
NM_005392.4
p.S840N
c.2519G>A
NM_005392.4
p.T992T
c.2976C>A
NM_005392.4
p.A287T
c.859G>A
NM_005392.4
p.K953delFs
c.2858delA
NM_005392.4
p.S985S
c.2955T>C
NM_005392.4
p.S1058L
c.3173C>T
NM_005392.4
p.G1068Splc
c.3203-2A>G