Papers
RefSeq ID
Protein change
DNA change
NM_001363818.2
p.G13S
c.37G>A
NM_001363818.2
p.G13D
c.38G>A
NM_001363818.2
p.M27_A28Splc
c.81+1G>T
NM_001363818.2
p.R50K
c.149G>A
NM_001363818.2
p.Q76_K77Splc
c.229-1G>C
NM_001363818.2
p.E100K
c.298G>A
NM_001363818.2
p.E100delFs
c.300delT
NM_001363818.2
p.A146V
c.437C>T
NM_001363818.2
p.A207V
c.620C>T