Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380876G>A | CA487840911 | SERPINA1 | c.912C>T (p.Asp304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380876G>C | CA390848310 | SERPINA1 | c.912C>G (p.Asp304Glu) | |
14 | g.94380876G= | CA2155953837 | SERPINA1 | c.912C= (p.Asp304=) | |
14 | g.94380876G>T | CA390848311 | SERPINA1 | c.912C>A (p.Asp304Glu) | |
14 | g.94380877T>A | CA390848312 | SERPINA1 | c.911A>T (p.Asp304Val) | |
14 | g.94380877T>C | CA390848313 | SERPINA1 | c.911A>G (p.Asp304Gly) | gnomAD v4 |
14 | g.94380877T>G | CA390848314 | SERPINA1 | c.911A>C (p.Asp304Ala) | |
14 | g.94380879_94380881dup | CA2802663860 | SERPINA1 | c.909_911dup (p.Glu303_Asp304insGlu) | |
14 | g.94380878C>A | CA390848316 | SERPINA1 | c.910G>T (p.Asp304Tyr) | |
14 | g.94380878C= | CA2155953838 | SERPINA1 | c.910G= (p.Asp304=) | |
14 | g.94380878C>G | CA390848315 | SERPINA1 | c.910G>C (p.Asp304His) | |
14 | g.94380878C>T | CA265863741 | SERPINA1 | c.910G>A (p.Asp304Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380879T>A | CA390848317 | SERPINA1 | c.909A>T (p.Glu303Asp) | |
14 | g.94380879T>C | CA487840913 | SERPINA1 | c.909A>G (p.Glu303=) | |
14 | g.94380879T>G | CA390848318 | SERPINA1 | c.909A>C (p.Glu303Asp) | |
14 | g.94380880T>A | CA390848319 | SERPINA1 | c.908A>T (p.Glu303Val) | |
14 | g.94380880T>C | CA390848320 | SERPINA1 | c.908A>G (p.Glu303Gly) | dbSNP |
14 | g.94380880T>G | CA390848321 | SERPINA1 | c.908A>C (p.Glu303Ala) | |
14 | g.94380880T= | CA2155953839 | SERPINA1 | c.908A= (p.Glu303=) | |
14 | g.94380881C>A | CA265863742 | SERPINA1 | c.907G>T (p.Glu303Ter) | |
14 | g.94380881C= | CA2155953840 | SERPINA1 | c.907G= (p.Glu303=) | |
14 | g.94380881C>G | CA390848322 | SERPINA1 | c.907G>C (p.Glu303Gln) | ClinVar dbSNP |
14 | g.94380881C>T | CA390848323 | SERPINA1 | c.907G>A (p.Glu303Lys) | COSMIC |
14 | g.94380882A>C | CA390848324 | SERPINA1 | c.906T>G (p.Asn302Lys) | |
14 | g.94380882A>G | CA487840915 | SERPINA1 | c.906T>C (p.Asn302=) | |
14 | g.94380882A>T | CA390848325 | SERPINA1 | c.906T>A (p.Asn302Lys) | |
14 | g.94380883T>A | CA7327379 | SERPINA1 | c.905A>T (p.Asn302Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380883T>C | CA390848326 | SERPINA1 | c.905A>G (p.Asn302Ser) | |
14 | g.94380883T>G | CA390848327 | SERPINA1 | c.905A>C (p.Asn302Thr) | |
14 | g.94380883T= | CA2155953841 | SERPINA1 | c.905A= (p.Asn302=) | |
14 | g.94380884T>A | CA390848330 | SERPINA1 | c.904A>T (p.Asn302Tyr) | |
14 | g.94380884T>C | CA390848328 | SERPINA1 | c.904A>G (p.Asn302Asp) | |
14 | g.94380884T>G | CA390848329 | SERPINA1 | c.904A>C (p.Asn302His) | |
14 | g.94380885T>A | CA390848331 | SERPINA1 | c.903A>T (p.Glu301Asp) | |
14 | g.94380885T>C | CA487840916 | SERPINA1 | c.903A>G (p.Glu301=) | |
14 | g.94380885T>G | CA390848332 | SERPINA1 | c.903A>C (p.Glu301Asp) | |
14 | g.94380886T>A | CA390848333 | SERPINA1 | c.902A>T (p.Glu301Val) | |
14 | g.94380886T>C | CA390848334 | SERPINA1 | c.902A>G (p.Glu301Gly) | |
14 | g.94380886T>G | CA390848335 | SERPINA1 | c.902A>C (p.Glu301Ala) | gnomAD v4 |
14 | g.94380887C>A | CA390848336 | SERPINA1 | c.901G>T (p.Glu301Ter) | |
14 | g.94380887C>G | CA390848337 | SERPINA1 | c.901G>C (p.Glu301Gln) | |
14 | g.94380887C>T | CA390848338 | SERPINA1 | c.901G>A (p.Glu301Lys) | COSMIC |
14 | g.94380888C>A | CA487840920 | SERPINA1 | c.900G>T (p.Leu300=) | |
14 | g.94380888C= | CA2155953842 | SERPINA1 | c.900G= (p.Leu300=) | |
14 | g.94380888C>G | CA487840919 | SERPINA1 | c.900G>C (p.Leu300=) | |
14 | g.94380888C>T | CA7327380 | SERPINA1 | c.900G>A (p.Leu300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380889A= | CA2155953843 | SERPINA1 | c.899T= (p.Leu300=) | |
14 | g.94380889A>C | CA7327381 | SERPINA1 | c.899T>G (p.Leu300Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380889A>G | CA7327382 | SERPINA1 | c.899T>C (p.Leu300Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380889A>T | CA390848339 | SERPINA1 | c.899T>A (p.Leu300Gln) |