Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_173469.4
p.L183F
c.549A>C
NM_173469.4
p.L183F
c.549A>T
NM_173469.4
p.I361V
c.1081A>G
NM_173469.4
p.M1R
c.2T>G
NM_173469.4
p.A8_E9delFs
c.22_25del4
NM_173469.4
p.E9delFs
c.26_27delAG
NM_173469.4
p.E22_R25del4
c.64_74del12
NM_173469.4
p.E22Q
c.64G>C
NM_173469.4
p.E22_R25del0
c.66_74del9
NM_173469.4
p.I26_V27del2
c.76_80del6
NM_173469.4
p.I26_V27delFs
c.77_81del5
NM_173469.4
p.C36Y
c.107G>A