Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_004593.3
p.S50delFs
c.149delG
Surrounding Variants
NM_004593.3
p.S52P
c.154T>C
NM_004593.3
p.K49E
c.145A>G
NM_004593.3
p.S56fs
c.166_167fs
NM_004593.3
p.R57Splc
c.170+1G>A
NM_004593.3
p.S56_R57delFs
c.166_170del5
NM_004593.3
p.R57Splc
c.170+2T>C
NM_004593.3
p.A30S
c.88G>T
NM_004593.3
p.G21V
c.62G>T
NM_004593.3
p.S18F
c.53C>T
NM_004593.3
p.R15H
c.44G>A
NM_004593.3
p.E13fs
c.37_38fs
NM_004593.3
p.R57Splc
c.171-2A>G