Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_003730.6
p.C184R
c.550T>C
NM_003730.6
p.R236W
c.706C>T
NM_003730.6
p.Q189Q
c.567G>A
NM_003730.6
p.A17_G22del0
c.50_64del15
NM_003730.6
p.W43*
c.128G>A
NM_003730.6
p.W43*
c.129G>A
NM_003730.6
p.E49*
c.145G>T
NM_003730.6
p.K50_I64del15
c.148_191del45
NM_003730.6
p.S78*
c.233C>A
NM_003730.6
p.K87_D88Splc
c.262-2A>G
NM_003730.6
p.K133del1
c.397_398delCTT
NM_003730.6
p.E215K
c.643G>A