Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_174909.5
p.R52W
c.154C>T
NM_174909.5
p.M1_S2Splc
c.4-8C>T
NM_174909.5
p.S2fs
c.4_5fs
NM_174909.5
p.S2_I4delFs
c.4_11del8
NM_174909.5
p.I4_L11del8
c.10_32del24
NM_174909.5
p.I18K
c.53T>A
NM_174909.5
p.R34K
c.101G>A
NM_174909.5
p.G38E
c.113G>A
NM_174909.5
p.C46R
c.136T>C
NM_174909.5
p.V59G
c.176T>G
NM_174909.5
p.V59E
c.176T>A
NM_174909.5
p.F66insFs
c.197dupT