Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_015497.5
p.A5delFs
c.14_15delCG
NM_015497.5
p.L14_L15del1
c.42_44delAGA
NM_015497.5
p.L14_L15del2
c.40_44del6
NM_015497.5
p.W42_I44del3
c.124_131del9
NM_015497.5
p.R284Q
c.851G>A
NM_015497.5
p.A3A
c.9G>A
NM_015497.5
p.L14F
c.40C>T
NM_015497.5
p.L17L
c.51G>A
NM_015497.5
p.P73T
c.217C>A
NM_015497.5
p.I80fs
c.238_239fs
NM_015497.5
p.K85N
c.255A>T
NM_015497.5
p.K85N
c.255A>C