Papers
RefSeq ID
Protein change
DNA change
1–12 of 181 variants
NM_004280.5
p.Q29_I30Splc
c.88-2A>G
NM_004280.5
p.M1insFs
c.3dupG
NM_004280.5
p.A5delFs
c.14delG
NM_004280.5
p.L16P
c.47T>C
NM_004280.5
p.Q29_I30Splc
c.87+1G>C
NM_004280.5
p.M1V
c.1A>G
NM_004280.5
p.M1T
c.2T>C
NM_004280.5
p.M1K
c.2T>A
NM_004280.5
p.A4T
c.10G>A
NM_004280.5
p.L10L
c.30G>A
NM_004280.5
p.G62E
c.185G>A
NM_004280.5
p.G62G
c.186G>T