Genename |
Variants |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190535253T>C,c.1733T>C,p.I578T |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190532183G>A,c.1325G>A,p.R442K |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190532158A>G,c.1300A>G,p.M434V |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190532056C>T,c.1198C>T,p.H400Y |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190532036C>G,c.1178C>G,p.A393G |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190531802C>T,c.944C>T,p.T315M |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190531717A>G,c.859A>G,p.I287V |
ASNSD1(NM_019048,asparagine synthetase domain containing 1,643aa) |
g.2:190531426G>A,c.568G>A,p.G190R |
ASNA1(NM_004317,arsA arsenite transporter, ATP-binding, homolog 1 (bacterial),348aa) |
g.19:12858101G>A,c.700G>A,p.E234K |
ASNA1(NM_004317,arsA arsenite transporter, ATP-binding, homolog 1 (bacterial),348aa) |
g.19:12858090G>A,c.689G>A,p.R230H |
ASNA1(NM_004317,arsA arsenite transporter, ATP-binding, homolog 1 (bacterial),348aa) |
g.19:12848342G>T,c.23G>T,p.W8L |
ASL(NM_001024943,argininosuccinate lyase,464aa) |
g.7:65557060T>C,c.1130T>C,p.L377P |
ASL(NM_001024943,argininosuccinate lyase,464aa) |
g.7:65551777C>T,c.571C>T,p.R191W |
ASL(NM_001024943,argininosuccinate lyase,464aa) |
g.7:65548107C>T,c.392C>T,p.T131M |
ASL(NM_001024943,argininosuccinate lyase,464aa) |
g.7:65546812G>A,c.35G>A,p.R12Q |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156787368G>A,c.11C>T,p.T4I |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156784849T>C,c.98A>G,p.E33G |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156784847G>A,c.100C>T,p.R34X |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156784700G>A,c.247C>T,p.R83C |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156775459T>G,c.355A>C,p.T119P |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156775452G>A,c.362C>T,p.A121V |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156764844G>A,c.850C>T,p.R284C |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156757853C>T,c.1223G>A,p.R408Q |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156752999G>A,c.1304C>T,p.A435V |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156751129T>C,c.1397A>G,p.Y466C |
ASIC5(NM_017419,acid-sensing (proton-gated) ion channel family member 5,505aa) |
g.4:156751117T>C,c.1409A>G,p.N470S |
ASIC4(NM_182847,acid-sensing (proton-gated) ion channel family member 4,647aa) |
g.2:220402713A>G,c.1889A>G,p.N630S |
ASIC4(NM_182847,acid-sensing (proton-gated) ion channel family member 4,647aa) |
g.2:220402688G>A,c.1864G>A,p.G622R |