Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_178170.3
p.M508T
c.1523T>C
Surrounding Variants
NM_178170.3
p.M508K
c.1523T>A
NM_178170.3
p.A497P
c.1489G>C
NM_178170.3
p.P493S
c.1477C>T
NM_178170.3
p.R523Splc
c.1568+2T>C
NM_178170.3
p.G473V
c.1418G>T
NM_178170.3
p.G473Splc
c.1418-1G>A
NM_178170.3
p.D530N
c.1588G>A
NM_178170.3
p.L548R
c.1643T>G
NM_178170.3
p.L552_L553delFs
c.1655_1658del4
NM_178170.3
p.S579L
c.1736C>T
NM_178170.3
p.G580S
c.1738G>A
NM_178170.3
p.R599*
c.1795C>T