Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_003272.4
p.R194*
c.580C>T
NM_003272.4
p.L117F
c.349C>T
NM_003272.4
p.V233M
c.697G>A
NM_003272.4
p.R250W
c.748C>T
NM_003272.4
p.P19R
c.56C>G
NM_003272.4
p.R25delFs
c.74delG
NM_003272.4
p.D27G
c.80A>G
NM_003272.4
p.P30S
c.88C>T
NM_003272.4
p.T32_L33delFs
c.96_97delGC
NM_003272.4
p.V62A
c.185T>C
NM_003272.4
p.R92W
c.274C>T
NM_003272.4
p.V94V
c.282C>A