Papers
RefSeq ID
Protein change
DNA change
NM_016498.5
p.S2*
c.5C>A
NM_016498.5
p.S2*
c.5C>G
NM_016498.5
p.A9T
c.25G>A
NM_016498.5
p.Y21C
c.62A>G
NM_016498.5
p.E30K
c.88G>A
NM_016498.5
p.W42delFs
c.126delG
NM_016498.5
p.S50A
c.148T>G
NM_016498.5
p.N101H
c.301A>C
NM_016498.5
p.K123T
c.368A>C
NM_016498.5
p.P163R
c.488C>G
NM_001003704.3
p.D123V
c.368A>T