Papers
RefSeq ID
Protein change
DNA change
1–12 of 438 variants
NM_001042432.2
p.E295K
c.883G>A
NM_001042432.2
p.R334H
c.1001G>A
NM_001042432.2
p.R405W
c.1213C>T
NM_001042432.2
p.R334C
c.1000C>T
NM_001042432.2
p.L101P
c.302T>C
NM_001042432.2
p.L170P
c.509T>C
NM_001042432.2
p.A59T
c.175G>A
NM_001042432.2
p.Q352*
c.1054C>T
NM_001042432.2
p.V330F
c.988G>T
NM_001042432.2
p.Y199*
c.597C>G
NM_001042432.2
p.Y199*
c.597C>A
NM_001042432.2
p.V142delFs
c.424delC