Papers
RefSeq ID
Protein change
DNA change
1–12 of 367 variants
NM_032608.7
p.S2302*
c.6905C>A
NM_032608.7
p.E2166*
c.6496G>T
NM_032608.7
p.G44E
c.131G>A
NM_032608.7
p.R2220_A2224delFs
c.6660_6670del11
NM_032608.7
p.R2076W
c.6226C>T
NM_032608.7
p.G2256delFs
c.6768delG
NM_032608.7
p.V32A
c.95T>C
NM_032608.7
p.R1363*
c.4087C>T
NM_032608.7
p.W1037S
c.3110G>C
NM_032608.7
p.H1119Q
c.3357C>A
NM_032608.7
p.H1119Q
c.3357C>G
NM_032608.7
p.V1297M
c.3889G>A