Papers
RefSeq ID
Protein change
DNA change
1–12 of 236 variants
NM_017785.5
p.R20Q
c.59G>A
NM_017785.5
p.L586S
c.1757T>C
NM_017785.5
p.Y508H
c.1522T>C
NM_017785.5
p.S256A
c.766T>G
NM_017785.5
p.S575_C583del0
c.1724_1747del24
NM_017785.5
p.L9F
c.25C>T
NM_017785.5
p.A225V
c.674C>T
NM_017785.5
p.K297_L298Splc
c.892-2A>G
NM_017785.5
p.C602S
c.1804T>A
NM_017785.5
p.C602S
c.1805G>C
NM_017785.5
p.M1T
c.2T>C
NM_017785.5
p.M1_E2ins2
c.3_4ins6