Papers
RefSeq ID
Protein change
DNA change
1–12 of 223 variants
NM_007344.4
p.G719A
c.2156G>C
NM_007344.4
p.G719S
c.2155G>A
NM_007344.4
p.E157K
c.469G>A
NM_007344.4
p.A290S
c.868G>T
NM_007344.4
p.G719C
c.2155G>T
NM_007344.4
p.D876Y
c.2626G>T
NM_007344.4
p.S894P
c.2680T>C
NM_007344.4
p.L62R
c.185T>G
NM_007344.4
p.I112_N113delFs
c.336_337delTA
NM_007344.4
p.F145_V147delFs
c.434_440del7
NM_007344.4
p.K274fs
c.820_821fs
NM_007344.4
p.K274delFs
c.821delT