Papers
RefSeq ID
Protein change
DNA change
1–12 of 729 variants
NM_015629.4
p.A216P
c.646G>C
NM_015629.4
p.A194E
c.581C>A
NM_015629.4
p.R354*
c.1060C>T
NM_015629.4
p.R372_A375delFs
c.1115_1125del11
NM_015629.4
p.G176Splc
c.527+3A>G
NM_015629.4
p.Q458_G459Splc
c.1374+654C>G
NM_015629.4
p.K257insFs
c.769_770insA
NM_015629.4
p.C299R
c.895T>C
NM_015629.4
p.L107V
c.319C>G
NM_015629.4
p.G176Splc
c.527+1G>T
NM_015629.4
p.Q74*
c.220C>T
NM_015629.4
p.S119_K120delFs
c.357_358delAA