UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94380854T>G | CA616114845 | SERPINA1 | c.917+17A>C (n.917+17A>C) c.*13A>C (n.*13A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380854T= | CA2155953825 | SERPINA1 | c.917+17A= (n.917+17A=) c.*13A= (n.*13A=) | |
| 14 | g.94380855C>T | CA2730053879 | SERPINA1 | c.917+16G>A (n.917+16G>A) c.*12G>A (n.*12G>A) | dbSNP |
| 14 | g.94380856A>T | CA2626280929 | SERPINA1 | c.917+15T>A (n.917+15T>A) c.*11T>A (n.*11T>A) | gnomAD v4 |
| 14 | g.94380857G>A | CA2575614316 | SERPINA1 | c.917+14C>T (n.917+14C>T) c.*10C>T (n.*10C>T) | |
| 14 | g.94380858G= | CA2155953826 | SERPINA1 | c.917+13C= (n.917+13C=) c.*9C= (n.*9C=) | |
| 14 | g.94380858G>T | CA265863736 | SERPINA1 | c.917+13C>A (n.917+13C>A) c.*9C>A (n.*9C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94380859T>C | CA710095462 | SERPINA1 | c.917+12A>G (n.917+12A>G) c.*8A>G (n.*8A>G) | dbSNP gnomAD v4 |
| 14 | g.94380859T= | CA2155953827 | SERPINA1 | c.917+12A= (n.917+12A=) c.*8A= (n.*8A=) | |
| 14 | g.94380860dup | CA7327374 | SERPINA1 | c.917+12dup (n.917+12dup) c.*8dup (n.*8dup) | dbSNP ExAC gnomAD v2 |
| 14 | g.94380861G>A | CA2155953829 | SERPINA1 | c.917+10C>T (n.917+10C>T) c.*6C>T (n.*6C>T) | dbSNP |
| 14 | g.94380861G= | CA2155953828 | SERPINA1 | c.917+10C= (n.917+10C=) c.*6C= (n.*6C=) | |
| 14 | g.94380861G>T | CA2802663859 | SERPINA1 | c.917+10C>A (n.917+10C>A) c.*6C>A (n.*6C>A) | |
| 14 | g.94380862G>A | CA7327375 | SERPINA1 | c.917+9C>T (n.917+9C>T) c.*5C>T (n.*5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380862G= | CA2155953830 | SERPINA1 | c.917+9C= (n.917+9C=) c.*5C= (n.*5C=) | |
| 14 | g.94380863G>A | CA2626280933 | SERPINA1 | c.917+8C>T (n.917+8C>T) c.*4C>T (n.*4C>T) | dbSNP gnomAD v4 |
| 14 | g.94380863G= | CA2155953831 | SERPINA1 | c.917+8C= (n.917+8C=) c.*4C= (n.*4C=) | |
| 14 | g.94380863G>T | CA710095467 | SERPINA1 | c.917+8C>A (n.917+8C>A) c.*4C>A (n.*4C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380864G>A | CA7327376 | SERPINA1 | c.917+7C>T (n.917+7C>T) c.*3C>T (n.*3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380864G= | CA2155953832 | SERPINA1 | c.917+7C= (n.917+7C=) c.*3C= (n.*3C=) | |
| 14 | g.94380864G>T | CA2626280936 | SERPINA1 | c.917+7C>A (n.917+7C>A) c.*3C>A (n.*3C>A) | gnomAD v4 |
| 14 | g.94380865A= | CA2155953833 | SERPINA1 | c.917+6T= (n.917+6T=) c.*2T= (n.*2T=) | |
| 14 | g.94380865A>T | CA966133745 | SERPINA1 | c.917+6T>A (n.917+6T>A) c.*2T>A (n.*2T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380868C= | CA2155953834 | SERPINA1 | c.917+3G= (n.917+3G=) c.920G= (p.Ter307=) | |
| 14 | g.94380868C>G | CA265863739 | SERPINA1 | c.917+3G>C (n.917+3G>C) c.920G>C (p.Ter307Ser) | dbSNP |
| 14 | g.94380868C>T | CA2626280938 | SERPINA1 | c.917+3G>A (n.917+3G>A) c.920G>A (p.Ter307=) | gnomAD v4 |
| 14 | g.94380869A>C | CA390848293 | SERPINA1 | c.917+2T>G (n.917+2T>G) c.919T>G (p.Ter307Gly) | |
| 14 | g.94380869A>G | CA390848294 | SERPINA1 | c.917+2T>C (n.917+2T>C) c.919T>C (p.Ter307Arg) | |
| 14 | g.94380869A>T | CA390848295 | SERPINA1 | c.917+2T>A (n.917+2T>A) c.919T>A (p.Ter307Arg) | |
| 14 | g.94380870C>A | CA390848296 | SERPINA1 | c.917+1G>T (n.917+1G>T) c.918G>T (p.Arg306Ser) | |
| 14 | g.94380870C= | CA2155953836 | SERPINA1 | c.917+1G= (n.917+1G=) c.918G= (p.Arg306=) | |
| 14 | g.94380870C>G | CA390848297 | SERPINA1 | c.917+1G>C (n.917+1G>C) c.918G>C (p.Arg306Ser) | |
| 14 | g.94380870C>T | CA7327378 | SERPINA1 | c.917+1G>A (n.917+1G>A) c.918G>A (p.Arg306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380870_94380873delinsCCTT | CA2155953835 | SERPINA1 | c.915_917+1delinsAAGG c.915_918delinsAAGG (p.Arg305=) | |
| 14 | g.94380871C>A | CA390848298 | SERPINA1 | c.917G>T (p.Arg306Met) | |
| 14 | g.94380871C>G | CA390848299 | SERPINA1 | c.917G>C (p.Arg306Thr) | |
| 14 | g.94380871C>T | CA390848300 | SERPINA1 | c.917G>A (p.Arg306Lys) | |
| 14 | g.94380873_94380875del | CA7327377 | SERPINA1 | c.915_917del (p.Arg306del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380872T>A | CA390848302 | SERPINA1 | c.916A>T (p.Arg306Trp) | |
| 14 | g.94380872T>C | CA390848301 | SERPINA1 | c.916A>G (p.Arg306Gly) | gnomAD v4 |
| 14 | g.94380872T>G | CA487840908 | SERPINA1 | c.916A>C (p.Arg306=) | |
| 14 | g.94380873T>A | CA390848303 | SERPINA1 | c.915A>T (p.Arg305Ser) | |
| 14 | g.94380873T>C | CA487840909 | SERPINA1 | c.915A>G (p.Arg305=) | |
| 14 | g.94380873T>G | CA390848304 | SERPINA1 | c.915A>C (p.Arg305Ser) | |
| 14 | g.94380874_94380875del | CA2695219656 | SERPINA1 | c.914_915del (p.Arg305LysfsTer17) | |
| 14 | g.94380874C>A | CA390848305 | SERPINA1 | c.914G>T (p.Arg305Ile) | |
| 14 | g.94380874C>G | CA390848306 | SERPINA1 | c.914G>C (p.Arg305Thr) | |
| 14 | g.94380874C>T | CA390848307 | SERPINA1 | c.914G>A (p.Arg305Lys) | |
| 14 | g.94380875T>A | CA390848308 | SERPINA1 | c.913A>T (p.Arg305Ter) | |
| 14 | g.94380875T>C | CA390848309 | SERPINA1 | c.913A>G (p.Arg305Gly) | |
| 14 | g.94380875T>G | CA487840910 | SERPINA1 | c.913A>C (p.Arg305=) | |
| 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) | |
| 14 | g.94380890G>A | CA487840922 | SERPINA1 | c.898C>T (p.Leu300=) | gnomAD v4 |
| 14 | g.94380890G>C | CA390848340 | SERPINA1 | c.898C>G (p.Leu300Val) | |
| 14 | g.94380890G>T | CA390848341 | SERPINA1 | c.898C>A (p.Leu300Met) | |
| 14 | g.94380891G>A | CA487840925 | SERPINA1 | c.897C>T (p.Phe299=) | ClinVar |
| 14 | g.94380891G>C | CA390848342 | SERPINA1 | c.897C>G (p.Phe299Leu) | |
| 14 | g.94380891G>T | CA390848343 | SERPINA1 | c.897C>A (p.Phe299Leu) | |
| 14 | g.94380892A>C | CA390848344 | SERPINA1 | c.896T>G (p.Phe299Cys) | |
| 14 | g.94380892A>G | CA390848345 | SERPINA1 | c.896T>C (p.Phe299Ser) | |
| 14 | g.94380892A>T | CA390848346 | SERPINA1 | c.896T>A (p.Phe299Tyr) | |
| 14 | g.94380893A= | CA2155953844 | SERPINA1 | c.895T= (p.Phe299=) | |
| 14 | g.94380893A>C | CA390848347 | SERPINA1 | c.895T>G (p.Phe299Val) | COSMIC |
| 14 | g.94380893A>G | CA7327383 | SERPINA1 | c.895T>C (p.Phe299Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94380893A>T | CA390848348 | SERPINA1 | c.895T>A (p.Phe299Ile) | |
| 14 | g.94380894C>A | CA265863745 | SERPINA1 | c.894G>T (p.Lys298Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380894C= | CA2155953845 | SERPINA1 | c.894G= (p.Lys298=) | |
| 14 | g.94380894C>G | CA390848349 | SERPINA1 | c.894G>C (p.Lys298Asn) | gnomAD v4 COSMIC |
| 14 | g.94380894C>T | CA487840927 | SERPINA1 | c.894G>A (p.Lys298=) | gnomAD v4 |
| 14 | g.94380895T>A | CA390848350 | SERPINA1 | c.893A>T (p.Lys298Met) | |
| 14 | g.94380895T>C | CA390848351 | SERPINA1 | c.893A>G (p.Lys298Arg) | gnomAD v4 |
| 14 | g.94380895T>G | CA390848352 | SERPINA1 | c.893A>C (p.Lys298Thr) | |
| 14 | g.94380896T>A | CA390848355 | SERPINA1 | c.892A>T (p.Lys298Ter) | |
| 14 | g.94380896T>C | CA390848354 | SERPINA1 | c.892A>G (p.Lys298Glu) | |
| 14 | g.94380896T>G | CA390848353 | SERPINA1 | c.892A>C (p.Lys298Gln) | |
| 14 | g.94380897G>A | CA487840928 | SERPINA1 | c.891C>T (p.Thr297=) | dbSNP gnomAD v4 |
| 14 | g.94380897G>C | CA487840929 | SERPINA1 | c.891C>G (p.Thr297=) | ClinVar |
| 14 | g.94380897G= | CA2155953846 | SERPINA1 | c.891C= (p.Thr297=) | |
| 14 | g.94380897G>T | CA487840930 | SERPINA1 | c.891C>A (p.Thr297=) | |
| 14 | g.94380898G>A | CA265863747 | SERPINA1 | c.890C>T (p.Thr297Ile) | dbSNP |
| 14 | g.94380898G>C | CA390848356 | SERPINA1 | c.890C>G (p.Thr297Ser) | |
| 14 | g.94380898G= | CA2155953848 | SERPINA1 | c.890C= (p.Thr297=) | |
| 14 | g.94380898G>T | CA7327384 | SERPINA1 | c.890C>A (p.Thr297Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380898_94380901delinsGTGA | CA2155953847 | SERPINA1 | c.887_890delinsTCAC (p.Ile296=) | |
| 14 | g.94380899T>A | CA390848357 | SERPINA1 | c.889A>T (p.Thr297Ser) | |
| 14 | g.94380899T>C | CA390848358 | SERPINA1 | c.889A>G (p.Thr297Ala) | |
| 14 | g.94380899T>G | CA390848359 | SERPINA1 | c.889A>C (p.Thr297Pro) | |
| 14 | g.94380903_94380905del | CA616114846 | SERPINA1 | c.887_889del (p.Ile296del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380900G>A | CA487840932 | SERPINA1 | c.888C>T (p.Ile296=) | gnomAD v4 COSMIC |
| 14 | g.94380900G>C | CA390848360 | SERPINA1 | c.888C>G (p.Ile296Met) | |
| 14 | g.94380900G>T | CA487840933 | SERPINA1 | c.888C>A (p.Ile296=) | |
| 14 | g.94380901A>C | CA390848361 | SERPINA1 | c.887T>G (p.Ile296Ser) | gnomAD v4 |
| 14 | g.94380901A>G | CA390848362 | SERPINA1 | c.887T>C (p.Ile296Thr) | |
| 14 | g.94380901A>T | CA390848363 | SERPINA1 | c.887T>A (p.Ile296Asn) | |
| 14 | g.94380902T>A | CA390848364 | SERPINA1 | c.886A>T (p.Ile296Phe) | |
| 14 | g.94380902T>C | CA390848365 | SERPINA1 | c.886A>G (p.Ile296Val) | |
| 14 | g.94380902T>G | CA390848366 | SERPINA1 | c.886A>C (p.Ile296Leu) | |
| 14 | g.94380903G>A | CA487840935 | SERPINA1 | c.885C>T (p.Ile295=) | |
| 14 | g.94380903G>C | CA390848367 | SERPINA1 | c.885C>G (p.Ile295Met) | |
| 14 | g.94380903G>T | CA487840937 | SERPINA1 | c.885C>A (p.Ile295=) | gnomAD v4 |
| 14 | g.94380904A= | CA2155953849 | SERPINA1 | c.884T= (p.Ile295=) | |
| 14 | g.94380904A>C | CA390848369 | SERPINA1 | c.884T>G (p.Ile295Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380904A>G | CA390848370 | SERPINA1 | c.884T>C (p.Ile295Thr) | gnomAD v4 |
| 14 | g.94380904A>T | CA390848368 | SERPINA1 | c.884T>A (p.Ile295Asn) | |
| 14 | g.94380905T>A | CA390848371 | SERPINA1 | c.883A>T (p.Ile295Phe) | |
| 14 | g.94380905T>C | CA390848372 | SERPINA1 | c.883A>G (p.Ile295Val) | gnomAD v4 |
| 14 | g.94380905T>G | CA390848373 | SERPINA1 | c.883A>C (p.Ile295Leu) | |
| 14 | g.94380906A>C | CA390848374 | SERPINA1 | c.882T>G (p.Asp294Glu) | |
| 14 | g.94380906A>G | CA487840939 | SERPINA1 | c.882T>C (p.Asp294=) | gnomAD v4 |
| 14 | g.94380906A>T | CA390848375 | SERPINA1 | c.882T>A (p.Asp294Glu) | |
| 14 | g.94380907T>A | CA390848378 | SERPINA1 | c.881A>T (p.Asp294Val) | |
| 14 | g.94380907T>C | CA390848377 | SERPINA1 | c.881A>G (p.Asp294Gly) | gnomAD v4 |
| 14 | g.94380907T>G | CA390848376 | SERPINA1 | c.881A>C (p.Asp294Ala) | |
| 14 | g.94380908C>A | CA390848379 | SERPINA1 | c.880G>T (p.Asp294Tyr) | gnomAD v4 |
| 14 | g.94380908C= | CA2155953850 | SERPINA1 | c.880G= (p.Asp294=) | |
| 14 | g.94380908C>G | CA390848380 | SERPINA1 | c.880G>C (p.Asp294His) | |
| 14 | g.94380908C>T | CA7327385 | SERPINA1 | c.880G>A (p.Asp294Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380909G>A | CA265863749 | SERPINA1 | c.879C>T (p.His293=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94380909G>C | CA349696 | SERPINA1 | c.879C>G (p.His293Gln) | ClinVar dbSNP |
| 14 | g.94380909G= | CA2155953851 | SERPINA1 | c.879C= (p.His293=) | |
| 14 | g.94380909G>T | CA7327386 | SERPINA1 | c.879C>A (p.His293Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380910_94380912del | CA2550231306 | SERPINA1 | c.877_879del (p.His293del) | |
| 14 | g.94380910T>A | CA390848381 | SERPINA1 | c.878A>T (p.His293Leu) | |
| 14 | g.94380910T>C | CA390848383 | SERPINA1 | c.878A>G (p.His293Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380910T>G | CA390848382 | SERPINA1 | c.878A>C (p.His293Pro) | |
| 14 | g.94380910T= | CA2155953852 | SERPINA1 | c.878A= (p.His293=) | |
| 14 | g.94380911G>A | CA390848384 | SERPINA1 | c.877C>T (p.His293Tyr) | |
| 14 | g.94380911G>C | CA390848385 | SERPINA1 | c.877C>G (p.His293Asp) | gnomAD v4 |
| 14 | g.94380911G>T | CA390848386 | SERPINA1 | c.877C>A (p.His293Asn) | |
| 14 | g.94380912G>A | CA487840943 | SERPINA1 | c.876C>T (p.Thr292=) | ClinVar gnomAD v4 |
| 14 | g.94380912G>C | CA487840946 | SERPINA1 | c.876C>G (p.Thr292=) | |
| 14 | g.94380912G>T | CA487840945 | SERPINA1 | c.876C>A (p.Thr292=) | |
| 14 | g.94380913G>A | CA7327387 | SERPINA1 | c.875C>T (p.Thr292Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380913G>C | CA390848387 | SERPINA1 | c.875C>G (p.Thr292Ser) | |
| 14 | g.94380913G= | CA2155953853 | SERPINA1 | c.875C= (p.Thr292=) | |
| 14 | g.94380913G>T | CA390848388 | SERPINA1 | c.875C>A (p.Thr292Asn) | |
| 14 | g.94380914T>A | CA390848389 | SERPINA1 | c.874A>T (p.Thr292Ser) | |
| 14 | g.94380914T>C | CA7327388 | SERPINA1 | c.874A>G (p.Thr292Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380914T>G | CA390848390 | SERPINA1 | c.874A>C (p.Thr292Pro) | |
| 14 | g.94380914T= | CA2155953854 | SERPINA1 | c.874A= (p.Thr292=) | |
| 14 | g.94380915G>A | CA7327389 | SERPINA1 | c.873C>T (p.Leu291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94380915G>C | CA487840949 | SERPINA1 | c.873C>G (p.Leu291=) | gnomAD v4 |
| 14 | g.94380915G= | CA2155953855 | SERPINA1 | c.873C= (p.Leu291=) | |
| 14 | g.94380915G>T | CA487840950 | SERPINA1 | c.873C>A (p.Leu291=) | |
| 14 | g.94380916del | CA2513064073 | SERPINA1 | c.872del (p.Leu291ProfsTer?) c.872del (p.Leu291ProfsTer21) | |
| 14 | g.94380916A>C | CA390848391 | SERPINA1 | c.872T>G (p.Leu291Arg) | |
| 14 | g.94380916A>G | CA390848393 | SERPINA1 | c.872T>C (p.Leu291Pro) | |
| 14 | g.94380916A>T | CA390848392 | SERPINA1 | c.872T>A (p.Leu291His) | |
| 14 | g.94380917G>A | CA390848394 | SERPINA1 | c.871C>T (p.Leu291Phe) | dbSNP gnomAD v4 |
| 14 | g.94380917G>C | CA390848396 | SERPINA1 | c.871C>G (p.Leu291Val) | |
| 14 | g.94380917G= | CA2155953856 | SERPINA1 | c.871C= (p.Leu291=) | |
| 14 | g.94380917G>T | CA390848395 | SERPINA1 | c.871C>A (p.Leu291Ile) | |
| 14 | g.94380918T>A | CA390848397 | SERPINA1 | c.870A>T (p.Glu290Asp) | |
| 14 | g.94380918T>C | CA487840952 | SERPINA1 | c.870A>G (p.Glu290=) | |
| 14 | g.94380918T>G | CA390848398 | SERPINA1 | c.870A>C (p.Glu290Asp) | |
| 14 | g.94380918_94380919insCGCCGTA | CA2567443188 | SERPINA1 | c.869_870insTACGGCG (p.Glu290AspfsTer16) | |
| 14 | g.94380919T>A | CA390848399 | SERPINA1 | c.869A>T (p.Glu290Val) | |
| 14 | g.94380919T>C | CA390848401 | SERPINA1 | c.869A>G (p.Glu290Gly) | |
| 14 | g.94380919T>G | CA390848400 | SERPINA1 | c.869A>C (p.Glu290Ala) | |
| 14 | g.94380920C>A | CA390848402 | SERPINA1 | c.868G>T (p.Glu290Ter) | |
| 14 | g.94380920C= | CA2155953857 | SERPINA1 | c.868G= (p.Glu290=) | |
| 14 | g.94380920C>G | CA390848403 | SERPINA1 | c.868G>C (p.Glu290Gln) | |
| 14 | g.94380920C>T | CA390848404 | SERPINA1 | c.868G>A (p.Glu290Lys) | |
| 14 | g.94380921A= | CA2155953858 | SERPINA1 | c.867T= (p.Asn289=) | |
| 14 | g.94380921A>C | CA390848405 | SERPINA1 | c.867T>G (p.Asn289Lys) | |
| 14 | g.94380921A>G | CA487840956 | SERPINA1 | c.867T>C (p.Asn289=) | |
| 14 | g.94380921A>T | CA390848406 | SERPINA1 | c.867T>A (p.Asn289Lys) | |
| 14 | g.94380922T>A | CA390848407 | SERPINA1 | c.866A>T (p.Asn289Ile) | |
| 14 | g.94380922T>C | CA390848408 | SERPINA1 | c.866A>G (p.Asn289Ser) | |
| 14 | g.94380922T>G | CA390848409 | SERPINA1 | c.866A>C (p.Asn289Thr) | |
| 14 | g.94380925dup | CA645509532 | SERPINA1 | c.866dup (p.Asn289LysfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380925_94380941del | CA2695219657 | SERPINA1 | c.850_866del (p.Leu284Ter) | |
| 14 | g.94380923T>A | CA390848410 | SERPINA1 | c.865A>T (p.Asn289Tyr) | |
| 14 | g.94380923T>C | CA390848411 | SERPINA1 | c.865A>G (p.Asn289Asp) | |
| 14 | g.94380923T>G | CA7327390 | SERPINA1 | c.865A>C (p.Asn289His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380923T= | CA2155953859 | SERPINA1 | c.865A= (p.Asn289=) | |
| 14 | g.94380924T>A | CA390848412 | SERPINA1 | c.864A>T (p.Glu288Asp) | |
| 14 | g.94380924T>C | CA487840960 | SERPINA1 | c.864A>G (p.Glu288=) | |
| 14 | g.94380924T>G | CA390848413 | SERPINA1 | c.864A>C (p.Glu288Asp) | |
| 14 | g.94380924_94380932del | CA2515417830 | SERPINA1 | c.856_864del (p.His286_Glu288del) | |
| 14 | g.94380925T>A | CA127679 | SERPINA1 | c.863A>T (p.Glu288Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.[94380925T>A;94382636T>C] | CA645511342 | SERPINA1 | c.[602A>G;863A>T] (p.[Asp201Gly;Glu288Val]) | ClinVar |
| 14 | g.[94380925T>A;94383048G>T] | CA645511343 | SERPINA1 | c.[190C>A;863A>T] (p.[Gln64Lys;Glu288Val]) | ClinVar |
| 14 | g.94380925T>C | CA390848415 | SERPINA1 | c.863A>G (p.Glu288Gly) | |
| 14 | g.94380925T>G | CA390848414 | SERPINA1 | c.863A>C (p.Glu288Ala) | |
| 14 | g.94380925T= | CA1630856180 | SERPINA1 | c.863A= (p.Glu288=) | |
| 14 | g.94380926C>A | CA390848416 | SERPINA1 | c.862G>T (p.Glu288Ter) | |
| 14 | g.94380926C>G | CA390848417 | SERPINA1 | c.862G>C (p.Glu288Gln) | |
| 14 | g.94380926C>T | CA390848418 | SERPINA1 | c.862G>A (p.Glu288Lys) | |
| 14 | g.94380927C>A | CA487840963 | SERPINA1 | c.861G>T (p.Leu287=) | |
| 14 | g.94380927C= | CA2155953860 | SERPINA1 | c.861G= (p.Leu287=) | |
| 14 | g.94380927C>G | CA487840961 | SERPINA1 | c.861G>C (p.Leu287=) | |
| 14 | g.94380927C>T | CA487840962 | SERPINA1 | c.861G>A (p.Leu287=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380928A= | CA2155953861 | SERPINA1 | c.860T= (p.Leu287=) | |
| 14 | g.94380928A>C | CA390848419 | SERPINA1 | c.860T>G (p.Leu287Arg) | |
| 14 | g.94380928A>G | CA390848420 | SERPINA1 | c.860T>C (p.Leu287Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380928A>T | CA390848421 | SERPINA1 | c.860T>A (p.Leu287Gln) | |
| 14 | g.94380929G>A | CA487840965 | SERPINA1 | c.859C>T (p.Leu287=) | |
| 14 | g.94380929G>C | CA390848422 | SERPINA1 | c.859C>G (p.Leu287Val) | |
| 14 | g.94380929G>T | CA390848423 | SERPINA1 | c.859C>A (p.Leu287Met) | |
| 14 | g.94380930G>A | CA487840966 | SERPINA1 | c.858C>T (p.His286=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380930G>C | CA390848424 | SERPINA1 | c.858C>G (p.His286Gln) | |
| 14 | g.94380930G= | CA2155953862 | SERPINA1 | c.858C= (p.His286=) | |
| 14 | g.94380930G>T | CA390848425 | SERPINA1 | c.858C>A (p.His286Gln) | |
| 14 | g.94380931T>A | CA390848428 | SERPINA1 | c.857A>T (p.His286Leu) | |
| 14 | g.94380931T>C | CA390848427 | SERPINA1 | c.857A>G (p.His286Arg) | |
| 14 | g.94380931T>G | CA390848426 | SERPINA1 | c.857A>C (p.His286Pro) | |
| 14 | g.94380932G>A | CA7327391 | SERPINA1 | c.856C>T (p.His286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380932G>C | CA390848429 | SERPINA1 | c.856C>G (p.His286Asp) | |
| 14 | g.94380932G= | CA2155953863 | SERPINA1 | c.856C= (p.His286=) | |
| 14 | g.94380932G>T | CA390848430 | SERPINA1 | c.856C>A (p.His286Asn) | |
| 14 | g.94380932_94380933insAAAAAA | CA2528267626 | SERPINA1 | c.855_856insTTTTTT (p.Gln285_His286insPhePhe) | |
| 14 | g.94380933C>A | CA390848431 | SERPINA1 | c.855G>T (p.Gln285His) | |
| 14 | g.94380933C= | CA2155953864 | SERPINA1 | c.855G= (p.Gln285=) | |
| 14 | g.94380933C>G | CA390848432 | SERPINA1 | c.855G>C (p.Gln285His) | |
| 14 | g.94380933C>T | CA487840970 | SERPINA1 | c.855G>A (p.Gln285=) | dbSNP COSMIC |
| 14 | g.94380934T>A | CA390848433 | SERPINA1 | c.854A>T (p.Gln285Leu) | |
| 14 | g.94380934T>C | CA390848434 | SERPINA1 | c.854A>G (p.Gln285Arg) | |
| 14 | g.94380934T>G | CA390848435 | SERPINA1 | c.854A>C (p.Gln285Pro) | COSMIC |
| 14 | g.94380935G>A | CA390848436 | SERPINA1 | c.853C>T (p.Gln285Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94380935G>C | CA390848438 | SERPINA1 | c.853C>G (p.Gln285Glu) | |
| 14 | g.94380935G= | CA2155953865 | SERPINA1 | c.853C= (p.Gln285=) | |
| 14 | g.94380935G>T | CA390848437 | SERPINA1 | c.853C>A (p.Gln285Lys) | |
| 14 | g.94380936T>A | CA487840975 | SERPINA1 | c.852A>T (p.Leu284=) | |
| 14 | g.94380936T>C | CA265863754 | SERPINA1 | c.852A>G (p.Leu284=) | dbSNP gnomAD v4 |
| 14 | g.94380936T>G | CA487840976 | SERPINA1 | c.852A>C (p.Leu284=) | |
| 14 | g.94380936T= | CA2155953866 | SERPINA1 | c.852A= (p.Leu284=) | |
| 14 | g.94380937A>C | CA390848439 | SERPINA1 | c.851T>G (p.Leu284Arg) | |
| 14 | g.94380937A>G | CA390848440 | SERPINA1 | c.851T>C (p.Leu284Pro) | dbSNP |
| 14 | g.94380937A>T | CA390848441 | SERPINA1 | c.851T>A (p.Leu284Gln) | |
| 14 | g.94380938G>A | CA7327392 | SERPINA1 | c.850C>T (p.Leu284=) | dbSNP ExAC |
| 14 | g.94380938G>C | CA390848443 | SERPINA1 | c.850C>G (p.Leu284Val) | |
| 14 | g.94380938G= | CA2155953867 | SERPINA1 | c.850C= (p.Leu284=) | |
| 14 | g.94380938G>T | CA390848442 | SERPINA1 | c.850C>A (p.Leu284Ile) | |
| 14 | g.94380939T>A | CA390848444 | SERPINA1 | c.849A>T (p.Lys283Asn) | |
| 14 | g.94380939T>C | CA487840977 | SERPINA1 | c.849A>G (p.Lys283=) | |
| 14 | g.94380939T>G | CA390848445 | SERPINA1 | c.849A>C (p.Lys283Asn) | |
| 14 | g.94380941del | CA487840978 | SERPINA1 | c.849del (p.Lys283AsnfsTer?) c.849del (p.Lys283AsnfsTer29) | COSMIC |
| 14 | g.94380940T>A | CA348043 | SERPINA1 | c.848A>T (p.Lys283Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380940T>C | CA390848446 | SERPINA1 | c.848A>G (p.Lys283Arg) | |
| 14 | g.94380940T>G | CA390848447 | SERPINA1 | c.848A>C (p.Lys283Thr) | |
| 14 | g.94380940T= | CA2155953868 | SERPINA1 | c.848A= (p.Lys283=) | |
| 14 | g.94380941T>A | CA390848448 | SERPINA1 | c.847A>T (p.Lys283Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94380941T>C | CA390848449 | SERPINA1 | c.847A>G (p.Lys283Glu) | |
| 14 | g.94380941T>G | CA390848450 | SERPINA1 | c.847A>C (p.Lys283Gln) | |
| 14 | g.94380941T= | CA2155953869 | SERPINA1 | c.847A= (p.Lys283=) | |
| 14 | g.94380942C>A | CA7327393 | SERPINA1 | c.846G>T (p.Gly282=) | dbSNP ExAC gnomAD v2 |
| 14 | g.94380942C= | CA2155953870 | SERPINA1 | c.846G= (p.Gly282=) | |
| 14 | g.94380942C>G | CA487840980 | SERPINA1 | c.846G>C (p.Gly282=) | |
| 14 | g.94380942C>T | CA487840979 | SERPINA1 | c.846G>A (p.Gly282=) | gnomAD v4 |
| 14 | g.94380943C>A | CA390848451 | SERPINA1 | c.845G>T (p.Gly282Val) | |
| 14 | g.94380943C>G | CA390848452 | SERPINA1 | c.845G>C (p.Gly282Ala) | gnomAD v4 |
| 14 | g.94380943C>T | CA390848453 | SERPINA1 | c.845G>A (p.Gly282Glu) | gnomAD v4 |
| 14 | g.94380944C>A | CA390848455 | SERPINA1 | c.844G>T (p.Gly282Trp) | |
| 14 | g.94380944C= | CA2155953871 | SERPINA1 | c.844G= (p.Gly282=) | |
| 14 | g.94380944C>G | CA390848454 | SERPINA1 | c.844G>C (p.Gly282Arg) | |
| 14 | g.94380944C>T | CA7327394 | SERPINA1 | c.844G>A (p.Gly282Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380945C>A | CA390848456 | SERPINA1 | c.843G>T (p.Glu281Asp) | |
| 14 | g.94380945C= | CA2155953872 | SERPINA1 | c.843G= (p.Glu281=) | |
| 14 | g.94380945C>G | CA390848457 | SERPINA1 | c.843G>C (p.Glu281Asp) | |
| 14 | g.94380945C>T | CA487840981 | SERPINA1 | c.843G>A (p.Glu281=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380946T>A | CA390848458 | SERPINA1 | c.842A>T (p.Glu281Val) | |
| 14 | g.94380946T>C | CA390848459 | SERPINA1 | c.842A>G (p.Glu281Gly) | |
| 14 | g.94380946T>G | CA390848460 | SERPINA1 | c.842A>C (p.Glu281Ala) | |
| 14 | g.94380947C>A | CA390848462 | SERPINA1 | c.841G>T (p.Glu281Ter) | ClinVar dbSNP |
| 14 | g.94380947C= | CA2155953874 | SERPINA1 | c.841G= (p.Glu281=) | |
| 14 | g.94380947C>G | CA390848461 | SERPINA1 | c.841G>C (p.Glu281Gln) | |
| 14 | g.94380947C>T | CA7327395 | SERPINA1 | c.841G>A (p.Glu281Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380947_94380949delinsCAT | CA2155953873 | SERPINA1 | c.839_841delinsATG (p.Asp280=) | |
| 14 | g.94380948A= | CA2155953875 | SERPINA1 | c.840T= (p.Asp280=) | |
| 14 | g.94380948A>C | CA390848463 | SERPINA1 | c.840T>G (p.Asp280Glu) | dbSNP |
| 14 | g.94380948A>G | CA177903 | SERPINA1 | c.840T>C (p.Asp280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380948A>T | CA390848464 | SERPINA1 | c.840T>A (p.Asp280Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380948_94380949delinsG | CA919481991 | SERPINA1 | c.839_840delinsC (p.Asp280AlafsTer?) | dbSNP |
| 14 | g.94380948_94380949delinsAT | CA2155953876 | SERPINA1 | c.839_840delinsAT (p.Asp280=) | |
| 14 | g.94380949del | CA919481992 | SERPINA1 | c.839del (p.Asp280ValfsTer?) | dbSNP |
| 14 | g.94380949T>A | CA127689 | SERPINA1 | c.839A>T (p.Asp280Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380949T>C | CA390848465 | SERPINA1 | c.839A>G (p.Asp280Gly) | gnomAD v4 |
| 14 | g.94380949T>G | CA390848466 | SERPINA1 | c.839A>C (p.Asp280Ala) | |
| 14 | g.94380949T= | CA2155953877 | SERPINA1 | c.839A= (p.Asp280=) | |
| 14 | g.94380950C>A | CA390848469 | SERPINA1 | c.838G>T (p.Asp280Tyr) | |
| 14 | g.94380950C>G | CA390848467 | SERPINA1 | c.838G>C (p.Asp280His) | |
| 14 | g.94380950C>T | CA390848468 | SERPINA1 | c.838G>A (p.Asp280Asn) | |
| 14 | g.94380951A>C | CA487840982 | SERPINA1 | c.837T>G (p.Pro279=) | |
| 14 | g.94380951A>G | CA487840983 | SERPINA1 | c.837T>C (p.Pro279=) | |
| 14 | g.94380951A>T | CA487840984 | SERPINA1 | c.837T>A (p.Pro279=) | |
| 14 | g.94380952G>A | CA390848470 | SERPINA1 | c.836C>T (p.Pro279Leu) | |
| 14 | g.94380952G>C | CA390848472 | SERPINA1 | c.836C>G (p.Pro279Arg) | |
| 14 | g.94380952G>T | CA390848473 | SERPINA1 | c.836C>A (p.Pro279His) | |
| 14 | g.94380953G>A | CA390848475 | SERPINA1 | c.835C>T (p.Pro279Ser) | gnomAD v4 |
| 14 | g.94380953G>C | CA390848476 | SERPINA1 | c.835C>G (p.Pro279Ala) | |
| 14 | g.94380953G= | CA2155953878 | SERPINA1 | c.835C= (p.Pro279=) | |
| 14 | g.94380953G>T | CA7327396 | SERPINA1 | c.835C>A (p.Pro279Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380954C>A | CA487840985 | SERPINA1 | c.834G>T (p.Leu278=) | |
| 14 | g.94380954C>G | CA487840987 | SERPINA1 | c.834G>C (p.Leu278=) | |
| 14 | g.94380954C>T | CA487840986 | SERPINA1 | c.834G>A (p.Leu278=) | gnomAD v4 |