Papers
RefSeq ID
Protein change
DNA change
1–12 of 250 variants
NM_001684.5
p.S1053F
c.3158C>T
NM_001684.5
p.R268Q
c.803G>A
NM_001684.5
p.V46I
c.136G>A
NM_001684.5
p.D1077E
c.3231T>A
NM_001684.5
p.D1077E
c.3231T>G
NM_001684.5
p.A222A
c.666A>T
NM_001684.5
p.A666T
c.1996G>A
NM_001684.5
p.E1116K
c.3346G>A
NM_001684.5
p.M1T
c.2T>C
NM_001684.5
p.E16K
c.46G>A
NM_001684.5
p.R18C
c.52C>T
NM_001684.5
p.M33L
c.97A>C