Papers
RefSeq ID
Protein change
DNA change
1–12 of 162 variants
NM_014498.5
p.Q453del1
c.1357_1359delCTG
NM_014498.5
p.G501E
c.1502G>A
NM_014498.5
p.R669*
c.2005C>T
NM_014498.5
p.V91I
c.271G>A
NM_014498.5
p.A312P
c.934G>C
NM_014498.5
p.A312V
c.935C>T
NM_014498.5
p.P318fs
c.952_953fs
NM_014498.5
p.Q513R
c.1538A>G
NM_014498.5
p.N3Y
c.7A>T
NM_014498.5
p.C6S
c.16T>A
NM_014498.5
p.T16A
c.46A>G
NM_014498.5
p.T21A
c.61A>G