Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000478.6
p.E42K
c.124G>A
Surrounding Variants
NM_000478.6
p.L43delFs
c.129delT
NM_000478.6
p.A40V
c.119C>T
NM_000478.6
p.Q44fs
c.130_131fs
NM_000478.6
p.Q44*
c.130C>T
NM_001177520.3
p.M1I
c.3G>A
NM_000478.6
p.A40T
c.118G>A
NM_001177520.3
p.M1I
c.3G>C
NM_001177520.3
p.M1I
c.3G>T
NM_000478.6
p.Y39Y
c.117T>C
NM_000478.6
p.A40insFs
c.118dupG
NM_000478.6
p.Y39C
c.116A>G
NM_000478.6
p.Y39F
c.116A>T
NM_000478.6
p.K45insFs
c.133_134dupAA