Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_005525.4
p.S186insFs
c.557_558insA
NM_005525.4
p.G111Splc
c.332-29T>G
NM_005525.4
p.R137C
c.409C>T
NM_005525.4
p.K187N
c.561G>C
NM_005525.4
p.K187N
c.561G>T
NM_005525.4
p.L109delFs
c.325delC
NM_005525.4
p.D131G
c.392A>G
NM_005525.4
p.V148E
c.443T>A
NM_005525.4
p.L251P
c.752T>C
NM_005525.4
p.C272S
c.814T>A
NM_005525.4
p.C272S
c.815G>C
NM_005525.4
p.M286I
c.858G>A