Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_007286.6
p.A67T
c.199G>A
NM_007286.6
p.A443V
c.1328C>T
NM_007286.6
p.A506S
c.1516G>T
NM_001166209.2
p.P847L
c.2540C>T
NM_007286.6
p.P647S
c.1939C>T
NM_007286.6
p.P790_P793del0
c.2368_2379del12
NM_007286.6
p.G3insFs
c.7dupG
NM_007286.6
p.A18V
c.53C>T
NM_007286.6
p.E20_P25del0
c.59_73del15
NM_001166209.2
p.P301L
c.902C>T
NM_007286.6
p.P59_L73del15
c.175_218del45
NM_007286.6
p.P59_L73del0
c.176_217del42