Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_014804.3
p.R324*
c.970C>T
NM_014804.3
p.E375D
c.1125A>T
NM_014804.3
p.E375D
c.1125A>C
NM_014804.3
p.Q515_G516Splc
c.1546-3C>A
NM_014804.3
p.K631*
c.1891A>T
NM_014804.3
p.Y270Y
c.810C>T
NM_014804.3
p.R257G
c.769A>G
NM_014804.3
p.Q315*
c.943C>T
NM_014804.3
p.P424fs
c.1270_1271fs
NM_014804.3
p.P424delFs
c.1271delG
NM_014804.3
p.P566L
c.1697C>T
NM_014804.3
p.E786_K787Splc
c.2359-1G>C