Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001199050.2
p.P25S
c.73C>T
NM_001199050.2
p.R99C
c.295C>T
NM_001199050.2
p.V2V
c.6G>T
NM_001199050.2
p.S8C
c.22A>T
NM_001199050.2
p.D9H
c.25G>C
NM_001199050.2
p.Q13*
c.37C>T
NM_001199050.2
p.E17Q
c.49G>C
NM_001199050.2
p.P28Splc
c.82+1010G>C
NM_001199050.2
p.L58L
c.172C>T
NM_001199050.2
p.D66E
c.198C>G
NM_001199050.2
p.D66E
c.198C>A
NM_001199050.2
p.I73T
c.218T>C