Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_006288.5
p.L144_L145insFs
c.432_433insA
NM_006288.5
p.M1L
c.1A>T
NM_006288.5
p.M1L
c.1A>C
NM_006288.5
p.L3Fs
c.7delinsTGGTCFs
NM_006288.5
p.A8D
c.23C>A
NM_006288.5
p.L10insFs
c.28_29insA
NM_006288.5
p.L10M
c.28C>A
NM_006288.5
p.V13Splc
c.38-5G>C
NM_006288.5
p.R18Q
c.53G>A
NM_006288.5
p.T23N
c.68C>A
NM_006288.5
p.V30M
c.88G>A
NM_006288.5
p.Q49K
c.145C>A