Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001164431.3
p.F459S
c.1376T>C
NM_001164431.3
p.A16A
c.48C>T
NM_001164431.3
p.S22S
c.66A>T
NM_001164431.3
p.R29P
c.86G>C
NM_001164431.3
p.R35C
c.103C>T
NM_001164431.3
p.S47S
c.141T>G
NM_001164431.3
p.G52S
c.154G>A
NM_001164431.3
p.L65Q
c.194T>A
NM_001164431.3
p.E78Q
c.232G>C
NM_001164431.3
p.R99W
c.295A>T
NM_001164431.3
p.G128G
c.384C>T
NM_001164431.3
p.D178_V179delFs
c.532_536del5