Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382668T>A | CA390849452 | SERPINA1 | c.570A>T (p.Gln190His) c.312A>T (p.Gln104His) | |
14 | g.94382668T>C | CA487621994 | SERPINA1 | c.570A>G (p.Gln190=) c.312A>G (p.Gln104=) | |
14 | g.94382668T>G | CA390849453 | SERPINA1 | c.570A>C (p.Gln190His) c.312A>C (p.Gln104His) | |
14 | g.94382669del | CA2626309958 | SERPINA1 | c.570del (p.Ile193LeufsTer17) c.312del (p.Gln104=) | gnomAD v4 |
14 | g.94382669T>A | CA390849456 | SERPINA1 | c.569A>T (p.Gln190Leu) c.311A>T (p.Gln104Leu) | |
14 | g.94382669T>C | CA390849455 | SERPINA1 | c.569A>G (p.Gln190Arg) c.311A>G (p.Gln104Arg) | |
14 | g.94382669T>G | CA390849454 | SERPINA1 | c.569A>C (p.Gln190Pro) c.311A>C (p.Gln104Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382669T= | CA2155954726 | SERPINA1 | c.569A= (p.Gln190=) c.311A= (p.Gln104=) | |
14 | g.94382670G>A | CA390849457 | SERPINA1 | c.568C>T (p.Gln190Ter) c.310C>T (p.Gln104Ter) | ClinVar |
14 | g.94382670G>C | CA390849458 | SERPINA1 | c.568C>G (p.Gln190Glu) c.310C>G (p.Gln104Glu) | |
14 | g.94382670G>T | CA390849459 | SERPINA1 | c.568C>A (p.Gln190Lys) c.310C>A (p.Gln104Lys) | |
14 | g.94382671A>C | CA487622002 | SERPINA1 | c.567T>G (p.Thr189=) c.309T>G (p.Thr103=) | |
14 | g.94382671A>G | CA487622000 | SERPINA1 | c.567T>C (p.Thr189=) c.309T>C (p.Thr103=) | |
14 | g.94382671A>T | CA487622001 | SERPINA1 | c.567T>A (p.Thr189=) c.309T>A (p.Thr103=) | |
14 | g.94382672G>A | CA390849460 | SERPINA1 | c.566C>T (p.Thr189Ile) c.308C>T (p.Thr103Ile) | ClinVar gnomAD v4 |
14 | g.94382672G>C | CA390849461 | SERPINA1 | c.566C>G (p.Thr189Ser) c.308C>G (p.Thr103Ser) | |
14 | g.94382672G>T | CA390849462 | SERPINA1 | c.566C>A (p.Thr189Asn) c.308C>A (p.Thr103Asn) | |
14 | g.94382673T>A | CA390849463 | SERPINA1 | c.565A>T (p.Thr189Ser) c.307A>T (p.Thr103Ser) | |
14 | g.94382673T>C | CA390849465 | SERPINA1 | c.565A>G (p.Thr189Ala) c.307A>G (p.Thr103Ala) | |
14 | g.94382673T>G | CA390849464 | SERPINA1 | c.565A>C (p.Thr189Pro) c.307A>C (p.Thr103Pro) | |
14 | g.94382674A= | CA2155954727 | SERPINA1 | c.564T= (p.Gly188=) c.306T= (p.Gly102=) | |
14 | g.94382674A>C | CA487622008 | SERPINA1 | c.564T>G (p.Gly188=) c.306T>G (p.Gly102=) | |
14 | g.94382674A>G | CA487622010 | SERPINA1 | c.564T>C (p.Gly188=) c.306T>C (p.Gly102=) | |
14 | g.94382674A>T | CA7327468 | SERPINA1 | c.564T>A (p.Gly188=) c.306T>A (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v4 |
14 | g.94382675C>A | CA390849466 | SERPINA1 | c.563G>T (p.Gly188Val) c.305G>T (p.Gly102Val) | |
14 | g.94382675C>G | CA390849467 | SERPINA1 | c.563G>C (p.Gly188Ala) c.305G>C (p.Gly102Ala) | |
14 | g.94382675C>T | CA390849468 | SERPINA1 | c.563G>A (p.Gly188Asp) c.305G>A (p.Gly102Asp) | gnomAD v4 COSMIC |
14 | g.94382676C>A | CA390849469 | SERPINA1 | c.562G>T (p.Gly188Cys) c.304G>T (p.Gly102Cys) | |
14 | g.94382676C= | CA2155954728 | SERPINA1 | c.562G= (p.Gly188=) c.304G= (p.Gly102=) | |
14 | g.94382676C>G | CA390849470 | SERPINA1 | c.562G>C (p.Gly188Arg) c.304G>C (p.Gly102Arg) | dbSNP |
14 | g.94382676C>T | CA7327469 | SERPINA1 | c.562G>A (p.Gly188Ser) c.304G>A (p.Gly102Ser) | dbSNP ExAC gnomAD v2 |
14 | g.94382677C>A | CA390849471 | SERPINA1 | c.561G>T (p.Lys187Asn) c.303G>T (p.Lys101Asn) | |
14 | g.94382677C>G | CA390849472 | SERPINA1 | c.561G>C (p.Lys187Asn) c.303G>C (p.Lys101Asn) | |
14 | g.94382677C>T | CA487622014 | SERPINA1 | c.561G>A (p.Lys187=) c.303G>A (p.Lys101=) | ClinVar |
14 | g.94382678T>A | CA390849473 | SERPINA1 | c.560A>T (p.Lys187Met) c.302A>T (p.Lys101Met) | |
14 | g.94382678T>C | CA390849474 | SERPINA1 | c.560A>G (p.Lys187Arg) c.302A>G (p.Lys101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382678T>G | CA7327470 | SERPINA1 | c.560A>C (p.Lys187Thr) c.302A>C (p.Lys101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382678T= | CA2155954729 | SERPINA1 | c.560A= (p.Lys187=) c.302A= (p.Lys101=) | |
14 | g.94382679T>A | CA390849476 | SERPINA1 | c.559A>T (p.Lys187Ter) c.301A>T (p.Lys101Ter) | gnomAD v4 |
14 | g.94382679T>C | CA390849477 | SERPINA1 | c.559A>G (p.Lys187Glu) c.301A>G (p.Lys101Glu) | |
14 | g.94382679T>G | CA390849475 | SERPINA1 | c.559A>C (p.Lys187Gln) c.301A>C (p.Lys101Gln) | |
14 | g.94382680C>A | CA390849479 | SERPINA1 | c.558G>T (p.Glu186Asp) c.300G>T (p.Glu100Asp) | |
14 | g.94382680C>G | CA390849478 | SERPINA1 | c.558G>C (p.Glu186Asp) c.300G>C (p.Glu100Asp) | |
14 | g.94382680C>T | CA487622018 | SERPINA1 | c.558G>A (p.Glu186=) c.300G>A (p.Glu100=) | ClinVar |
14 | g.94382681del | CA2695199865 | SERPINA1 | c.557del (p.Glu186GlyfsTer24) c.299del (p.Glu100GlyfsTer?) | ClinVar |
14 | g.94382681T>A | CA390849481 | SERPINA1 | c.557A>T (p.Glu186Val) c.299A>T (p.Glu100Val) | gnomAD v4 |
14 | g.94382681T>C | CA265864104 | SERPINA1 | c.557A>G (p.Glu186Gly) c.299A>G (p.Glu100Gly) | dbSNP |
14 | g.94382681T>G | CA390849480 | SERPINA1 | c.557A>C (p.Glu186Ala) c.299A>C (p.Glu100Ala) | |
14 | g.94382681T= | CA2155954730 | SERPINA1 | c.557A= (p.Glu186=) c.299A= (p.Glu100=) | |
14 | g.94382682C>A | CA390849482 | SERPINA1 | c.556G>T (p.Glu186Ter) c.298G>T (p.Glu100Ter) | |
14 | g.94382682C= | CA2155954731 | SERPINA1 | c.556G= (p.Glu186=) c.298G= (p.Glu100=) | |
14 | g.94382682C>G | CA390849483 | SERPINA1 | c.556G>C (p.Glu186Gln) c.298G>C (p.Glu100Gln) | |
14 | g.94382682C>T | CA390849484 | SERPINA1 | c.556G>A (p.Glu186Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382683C>A | CA487622019 | SERPINA1 | c.555G>T (p.Val185=) c.297G>T (p.Val99=) | |
14 | g.94382683C= | CA2155954732 | SERPINA1 | c.555G= (p.Val185=) c.297G= (p.Val99=) | |
14 | g.94382683C>G | CA487622020 | SERPINA1 | c.555G>C (p.Val185=) c.297G>C (p.Val99=) | |
14 | g.94382683C>T | CA487622021 | SERPINA1 | c.555G>A (p.Val185=) c.297G>A (p.Val99=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382684A>C | CA390849485 | SERPINA1 | c.554T>G (p.Val185Gly) c.296T>G (p.Val99Gly) | |
14 | g.94382684A>G | CA390849486 | SERPINA1 | c.554T>C (p.Val185Ala) c.296T>C (p.Val99Ala) | COSMIC |
14 | g.94382684A>T | CA390849487 | SERPINA1 | c.554T>A (p.Val185Glu) c.296T>A (p.Val99Glu) | |
14 | g.94382685C>A | CA390849488 | SERPINA1 | c.553G>T (p.Val185Leu) c.295G>T (p.Val99Leu) | |
14 | g.94382685C= | CA2155954733 | SERPINA1 | c.553G= (p.Val185=) c.295G= (p.Val99=) | |
14 | g.94382685C>G | CA390849489 | SERPINA1 | c.553G>C (p.Val185Leu) c.295G>C (p.Val99Leu) | gnomAD v4 |
14 | g.94382685C>T | CA7327471 | SERPINA1 | c.553G>A (p.Val185Met) c.295G>A (p.Val99Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382685_94382686delinsCG | CA2155954734 | SERPINA1 | c.552_553delinsCG (p.Tyr184=) c.294_295delinsCG (p.Tyr98=) | |
14 | g.94382686del | CA127692 | SERPINA1 | c.552del (p.Tyr184Ter) c.294del (p.Tyr98Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382686G>A | CA7327472 | SERPINA1 | c.552C>T (p.Tyr184=) c.294C>T (p.Tyr98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382686G>C | CA274042 | SERPINA1 | c.552C>G (p.Tyr184Ter) c.294C>G (p.Tyr98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382686G= | CA2155954735 | SERPINA1 | c.552C= (p.Tyr184=) c.294C= (p.Tyr98=) | |
14 | g.94382686G>T | CA7327473 | SERPINA1 | c.552C>A (p.Tyr184Ter) c.294C>A (p.Tyr98Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382687T>A | CA390849490 | SERPINA1 | c.551A>T (p.Tyr184Phe) c.293A>T (p.Tyr98Phe) | |
14 | g.94382687T>C | CA390849491 | SERPINA1 | c.551A>G (p.Tyr184Cys) c.293A>G (p.Tyr98Cys) | |
14 | g.94382687T>G | CA390849492 | SERPINA1 | c.551A>C (p.Tyr184Ser) c.293A>C (p.Tyr98Ser) | |
14 | g.94382688A>C | CA390849493 | SERPINA1 | c.550T>G (p.Tyr184Asp) c.292T>G (p.Tyr98Asp) | |
14 | g.94382688A>G | CA390849494 | SERPINA1 | c.550T>C (p.Tyr184His) c.292T>C (p.Tyr98His) | |
14 | g.94382688A>T | CA390849495 | SERPINA1 | c.550T>A (p.Tyr184Asn) c.292T>A (p.Tyr98Asn) | |
14 | g.94382689A>C | CA390849496 | SERPINA1 | c.549T>G (p.Asp183Glu) c.291T>G (p.Asp97Glu) | |
14 | g.94382689A>G | CA487622022 | SERPINA1 | c.549T>C (p.Asp183=) c.291T>C (p.Asp97=) | gnomAD v4 |
14 | g.94382689A>T | CA390849497 | SERPINA1 | c.549T>A (p.Asp183Glu) c.291T>A (p.Asp97Glu) | |
14 | g.94382690T>A | CA390849498 | SERPINA1 | c.548A>T (p.Asp183Val) c.290A>T (p.Asp97Val) | |
14 | g.94382690T>C | CA390849499 | SERPINA1 | c.548A>G (p.Asp183Gly) c.290A>G (p.Asp97Gly) | |
14 | g.94382690T>G | CA390849500 | SERPINA1 | c.548A>C (p.Asp183Ala) c.290A>C (p.Asp97Ala) | |
14 | g.94382691C>A | CA390849501 | SERPINA1 | c.547G>T (p.Asp183Tyr) c.289G>T (p.Asp97Tyr) | |
14 | g.94382691C= | CA2155954736 | SERPINA1 | c.547G= (p.Asp183=) c.289G= (p.Asp97=) | |
14 | g.94382691C>G | CA390849502 | SERPINA1 | c.547G>C (p.Asp183His) c.289G>C (p.Asp97His) | |
14 | g.94382691C>T | CA7327474 | SERPINA1 | c.547G>A (p.Asp183Asn) c.289G>A (p.Asp97Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382692G>A | CA7327475 | SERPINA1 | c.546C>T (p.Asn182=) c.288C>T (p.Asn96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382692G>C | CA390849503 | SERPINA1 | c.546C>G (p.Asn182Lys) c.288C>G (p.Asn96Lys) | |
14 | g.94382692G= | CA2155954737 | SERPINA1 | c.546C= (p.Asn182=) c.288C= (p.Asn96=) | |
14 | g.94382692G>T | CA390849504 | SERPINA1 | c.546C>A (p.Asn182Lys) c.288C>A (p.Asn96Lys) | |
14 | g.94382693T>A | CA390849505 | SERPINA1 | c.545A>T (p.Asn182Ile) c.287A>T (p.Asn96Ile) | |
14 | g.94382693T>C | CA390849506 | SERPINA1 | c.545A>G (p.Asn182Ser) c.287A>G (p.Asn96Ser) | |
14 | g.94382693T>G | CA390849507 | SERPINA1 | c.545A>C (p.Asn182Thr) c.287A>C (p.Asn96Thr) | |
14 | g.94382694T>A | CA390849508 | SERPINA1 | c.544A>T (p.Asn182Tyr) c.286A>T (p.Asn96Tyr) | |
14 | g.94382694T>C | CA390849509 | SERPINA1 | c.544A>G (p.Asn182Asp) c.286A>G (p.Asn96Asp) | |
14 | g.94382694T>G | CA390849510 | SERPINA1 | c.544A>C (p.Asn182His) c.286A>C (p.Asn96His) | |
14 | g.94382695G>A | CA487622023 | SERPINA1 | c.543C>T (p.Ile181=) c.285C>T (p.Ile95=) | |
14 | g.94382695G>C | CA390849511 | SERPINA1 | c.543C>G (p.Ile181Met) c.285C>G (p.Ile95Met) | |
14 | g.94382695G= | CA2155954738 | SERPINA1 | c.543C= (p.Ile181=) c.285C= (p.Ile95=) | |
14 | g.94382695G>T | CA487622024 | SERPINA1 | c.543C>A (p.Ile181=) c.285C>A (p.Ile95=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382696A>C | CA390849512 | SERPINA1 | c.542T>G (p.Ile181Ser) c.284T>G (p.Ile95Ser) | |
14 | g.94382696A>G | CA390849513 | SERPINA1 | c.542T>C (p.Ile181Thr) c.284T>C (p.Ile95Thr) | ClinVar |
14 | g.94382696A>T | CA390849514 | SERPINA1 | c.542T>A (p.Ile181Asn) c.284T>A (p.Ile95Asn) | |
14 | g.94382697T>A | CA390849517 | SERPINA1 | c.541A>T (p.Ile181Phe) c.283A>T (p.Ile95Phe) | |
14 | g.94382697T>C | CA390849516 | SERPINA1 | c.541A>G (p.Ile181Val) c.283A>G (p.Ile95Val) | |
14 | g.94382697T>G | CA390849515 | SERPINA1 | c.541A>C (p.Ile181Leu) c.283A>C (p.Ile95Leu) | |
14 | g.94382698C>A | CA390849518 | SERPINA1 | c.540G>T (p.Gln180His) c.282G>T (p.Gln94His) | |
14 | g.94382698C>G | CA390849519 | SERPINA1 | c.540G>C (p.Gln180His) c.282G>C (p.Gln94His) | |
14 | g.94382698C>T | CA487622025 | SERPINA1 | c.540G>A (p.Gln180=) c.282G>A (p.Gln94=) | |
14 | g.94382699del | CA2626309969 | SERPINA1 | c.539del (p.Gln180ArgfsTer30) c.281del (p.Gln94ArgfsTer?) | gnomAD v4 |
14 | g.94382699T>A | CA390849520 | SERPINA1 | c.539A>T (p.Gln180Leu) c.281A>T (p.Gln94Leu) | |
14 | g.94382699T>C | CA390849521 | SERPINA1 | c.539A>G (p.Gln180Arg) c.281A>G (p.Gln94Arg) | |
14 | g.94382699T>G | CA390849522 | SERPINA1 | c.539A>C (p.Gln180Pro) c.281A>C (p.Gln94Pro) | gnomAD v4 |
14 | g.94382700G>A | CA348651 | SERPINA1 | c.538C>T (p.Gln180Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
14 | g.94382700G>C | CA390849523 | SERPINA1 | c.538C>G (p.Gln180Glu) c.280C>G (p.Gln94Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382700G= | CA2155954739 | SERPINA1 | c.538C= (p.Gln180=) c.280C= (p.Gln94=) | |
14 | g.94382700G>T | CA390849524 | SERPINA1 | c.538C>A (p.Gln180Lys) c.280C>A (p.Gln94Lys) | gnomAD v4 |
14 | g.94382701T>A | CA390849525 | SERPINA1 | c.537A>T (p.Lys179Asn) c.279A>T (p.Lys93Asn) | |
14 | g.94382701T>C | CA487622026 | SERPINA1 | c.537A>G (p.Lys179=) c.279A>G (p.Lys93=) | |
14 | g.94382701T>G | CA390849526 | SERPINA1 | c.537A>C (p.Lys179Asn) c.279A>C (p.Lys93Asn) | |
14 | g.94382702T>A | CA390849527 | SERPINA1 | c.536A>T (p.Lys179Ile) c.278A>T (p.Lys93Ile) | |
14 | g.94382702T>C | CA390849528 | SERPINA1 | c.536A>G (p.Lys179Arg) c.278A>G (p.Lys93Arg) | |
14 | g.94382702T>G | CA390849529 | SERPINA1 | c.536A>C (p.Lys179Thr) c.278A>C (p.Lys93Thr) | |
14 | g.94382703T>A | CA390849532 | SERPINA1 | c.535A>T (p.Lys179Ter) c.277A>T (p.Lys93Ter) | |
14 | g.94382703T>C | CA390849531 | SERPINA1 | c.535A>G (p.Lys179Glu) c.277A>G (p.Lys93Glu) | |
14 | g.94382703T>G | CA390849530 | SERPINA1 | c.535A>C (p.Lys179Gln) c.277A>C (p.Lys93Gln) | |
14 | g.94382704C>A | CA390849533 | SERPINA1 | c.534G>T (p.Lys178Asn) c.276G>T (p.Lys92Asn) | gnomAD v4 |
14 | g.94382704C= | CA2155954740 | SERPINA1 | c.534G= (p.Lys178=) c.276G= (p.Lys92=) | |
14 | g.94382704C>G | CA390849534 | SERPINA1 | c.534G>C (p.Lys178Asn) c.276G>C (p.Lys92Asn) | |
14 | g.94382704C>T | CA7327476 | SERPINA1 | c.534G>A (p.Lys178=) c.276G>A (p.Lys92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382705T>A | CA390849535 | SERPINA1 | c.533A>T (p.Lys178Met) c.275A>T (p.Lys92Met) | |
14 | g.94382705T>C | CA390849536 | SERPINA1 | c.533A>G (p.Lys178Arg) c.275A>G (p.Lys92Arg) | |
14 | g.94382705T>G | CA390849537 | SERPINA1 | c.533A>C (p.Lys178Thr) c.275A>C (p.Lys92Thr) | |
14 | g.94382706T>A | CA390849538 | SERPINA1 | c.532A>T (p.Lys178Ter) c.274A>T (p.Lys92Ter) | |
14 | g.94382706T>C | CA390849539 | SERPINA1 | c.532A>G (p.Lys178Glu) c.274A>G (p.Lys92Glu) | |
14 | g.94382706T>G | CA390849540 | SERPINA1 | c.532A>C (p.Lys178Gln) c.274A>C (p.Lys92Gln) | |
14 | g.94382707G>A | CA487622027 | SERPINA1 | c.531C>T (p.Ala177=) c.273C>T (p.Ala91=) | |
14 | g.94382707G>C | CA487622028 | SERPINA1 | c.531C>G (p.Ala177=) c.273C>G (p.Ala91=) | |
14 | g.94382707G>T | CA487622029 | SERPINA1 | c.531C>A (p.Ala177=) c.273C>A (p.Ala91=) | |
14 | g.94382708G>A | CA390849541 | SERPINA1 | c.530C>T (p.Ala177Val) c.272C>T (p.Ala91Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382708G>C | CA390849542 | SERPINA1 | c.530C>G (p.Ala177Gly) c.272C>G (p.Ala91Gly) | |
14 | g.94382708G= | CA2155954741 | SERPINA1 | c.530C= (p.Ala177=) c.272C= (p.Ala91=) | |
14 | g.94382708G>T | CA390849543 | SERPINA1 | c.530C>A (p.Ala177Asp) c.272C>A (p.Ala91Asp) | |
14 | g.94382709C>A | CA390849544 | SERPINA1 | c.529G>T (p.Ala177Ser) c.271G>T (p.Ala91Ser) | gnomAD v4 |
14 | g.94382709C>G | CA390849545 | SERPINA1 | c.529G>C (p.Ala177Pro) c.271G>C (p.Ala91Pro) | |
14 | g.94382709C>T | CA390849546 | SERPINA1 | c.529G>A (p.Ala177Thr) c.271G>A (p.Ala91Thr) | dbSNP |
14 | g.94382710C>A | CA390849548 | SERPINA1 | c.528G>T (p.Glu176Asp) c.270G>T (p.Glu90Asp) | gnomAD v4 |
14 | g.94382710C= | CA2155954742 | SERPINA1 | c.528G= (p.Glu176=) c.270G= (p.Glu90=) | |
14 | g.94382710C>G | CA390849547 | SERPINA1 | c.528G>C (p.Glu176Asp) c.270G>C (p.Glu90Asp) | |
14 | g.94382710C>T | CA487622031 | SERPINA1 | c.528G>A (p.Glu176=) c.270G>A (p.Glu90=) | ClinVar dbSNP |
14 | g.94382711T>A | CA390849549 | SERPINA1 | c.527A>T (p.Glu176Val) c.269A>T (p.Glu90Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382711T>C | CA390849550 | SERPINA1 | c.527A>G (p.Glu176Gly) c.269A>G (p.Glu90Gly) | |
14 | g.94382711T>G | CA390849551 | SERPINA1 | c.527A>C (p.Glu176Ala) c.269A>C (p.Glu90Ala) | |
14 | g.94382711T= | CA2155954743 | SERPINA1 | c.527A= (p.Glu176=) c.269A= (p.Glu90=) | |
14 | g.94382712C>A | CA390849552 | SERPINA1 | c.526G>T (p.Glu176Ter) c.268G>T (p.Glu90Ter) | |
14 | g.94382712C>G | CA390849553 | SERPINA1 | c.526G>C (p.Glu176Gln) c.268G>C (p.Glu90Gln) | |
14 | g.94382712C>T | CA390849554 | SERPINA1 | c.526G>A (p.Glu176Lys) c.268G>A (p.Glu90Lys) | |
14 | g.94382713T>A | CA390849555 | SERPINA1 | c.525A>T (p.Glu175Asp) c.267A>T (p.Glu89Asp) | |
14 | g.94382713T>C | CA265864111 | SERPINA1 | c.525A>G (p.Glu175=) c.267A>G (p.Glu89=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382713T>G | CA390849556 | SERPINA1 | c.525A>C (p.Glu175Asp) c.267A>C (p.Glu89Asp) | |
14 | g.94382713T= | CA2155954744 | SERPINA1 | c.525A= (p.Glu175=) c.267A= (p.Glu89=) | |
14 | g.94382714T>A | CA390849557 | SERPINA1 | c.524A>T (p.Glu175Val) c.266A>T (p.Glu89Val) | |
14 | g.94382714T>C | CA390849558 | SERPINA1 | c.524A>G (p.Glu175Gly) c.266A>G (p.Glu89Gly) | |
14 | g.94382714T>G | CA390849559 | SERPINA1 | c.524A>C (p.Glu175Ala) c.266A>C (p.Glu89Ala) | |
14 | g.94382715C>A | CA390849560 | SERPINA1 | c.523G>T (p.Glu175Ter) c.265G>T (p.Glu89Ter) | |
14 | g.94382715C= | CA2155954746 | SERPINA1 | c.523G= (p.Glu175=) c.265G= (p.Glu89=) | |
14 | g.94382715C>G | CA390849561 | SERPINA1 | c.523G>C (p.Glu175Gln) c.265G>C (p.Glu89Gln) | |
14 | g.94382715C>T | CA7327477 | SERPINA1 | c.523G>A (p.Glu175Lys) c.265G>A (p.Glu89Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382715_94382716delinsCG | CA2155954745 | SERPINA1 | c.522_523delinsCG (p.Thr174=) c.264_265delinsCG (p.Thr88=) | |
14 | g.94382716G>A | CA7327478 | SERPINA1 | c.522C>T (p.Thr174=) c.264C>T (p.Thr88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382716G>C | CA487622032 | SERPINA1 | c.522C>G (p.Thr174=) c.264C>G (p.Thr88=) | |
14 | g.94382716G= | CA2155954747 | SERPINA1 | c.522C= (p.Thr174=) c.264C= (p.Thr88=) | |
14 | g.94382716G>T | CA487622034 | SERPINA1 | c.522C>A (p.Thr174=) c.264C>A (p.Thr88=) | |
14 | g.94382717del | CA966134404 | SERPINA1 | c.522del (p.Glu175LysfsTer?) c.264del (p.Glu89LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382717G>A | CA390849562 | SERPINA1 | c.521C>T (p.Thr174Ile) c.263C>T (p.Thr88Ile) | |
14 | g.94382717G>C | CA390849563 | SERPINA1 | c.521C>G (p.Thr174Ser) c.263C>G (p.Thr88Ser) | gnomAD v4 |
14 | g.94382717G>T | CA390849564 | SERPINA1 | c.521C>A (p.Thr174Asn) c.263C>A (p.Thr88Asn) | |
14 | g.94382718T>A | CA390849565 | SERPINA1 | c.520A>T (p.Thr174Ser) c.262A>T (p.Thr88Ser) | |
14 | g.94382718T>C | CA390849566 | SERPINA1 | c.520A>G (p.Thr174Ala) c.262A>G (p.Thr88Ala) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382718T>G | CA390849567 | SERPINA1 | c.520A>C (p.Thr174Pro) c.262A>C (p.Thr88Pro) | |
14 | g.94382718T= | CA2155954748 | SERPINA1 | c.520A= (p.Thr174=) c.262A= (p.Thr88=) | |
14 | g.94382719G>A | CA487622035 | SERPINA1 | c.519C>T (p.Asp173=) c.261C>T (p.Asp87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382719G>C | CA390849568 | SERPINA1 | c.519C>G (p.Asp173Glu) c.261C>G (p.Asp87Glu) | |
14 | g.94382719G= | CA2155954749 | SERPINA1 | c.519C= (p.Asp173=) c.261C= (p.Asp87=) | |
14 | g.94382719G>T | CA390849569 | SERPINA1 | c.519C>A (p.Asp173Glu) c.261C>A (p.Asp87Glu) | |
14 | g.94382720T>A | CA390849570 | SERPINA1 | c.518A>T (p.Asp173Val) c.260A>T (p.Asp87Val) | |
14 | g.94382720T>C | CA390849571 | SERPINA1 | c.518A>G (p.Asp173Gly) c.260A>G (p.Asp87Gly) | |
14 | g.94382720T>G | CA390849572 | SERPINA1 | c.518A>C (p.Asp173Ala) c.260A>C (p.Asp87Ala) | |
14 | g.94382721C>A | CA390849574 | SERPINA1 | c.517G>T (p.Asp173Tyr) c.259G>T (p.Asp87Tyr) | |
14 | g.94382721C>G | CA390849575 | SERPINA1 | c.517G>C (p.Asp173His) c.259G>C (p.Asp87His) | |
14 | g.94382721C>T | CA390849573 | SERPINA1 | c.517G>A (p.Asp173Asn) c.259G>A (p.Asp87Asn) | |
14 | g.94382724del | CA2626309970 | SERPINA1 | c.517del (p.Asp173ThrfsTer?) c.259del (p.Asp87ThrfsTer?) | gnomAD v4 |
14 | g.94382722C>A | CA487622036 | SERPINA1 | c.516G>T (p.Gly172=) c.258G>T (p.Gly86=) | |
14 | g.94382722C= | CA2155954750 | SERPINA1 | c.516G= (p.Gly172=) c.258G= (p.Gly86=) | |
14 | g.94382722C>G | CA487622037 | SERPINA1 | c.516G>C (p.Gly172=) c.258G>C (p.Gly86=) | |
14 | g.94382722C>T | CA487622038 | SERPINA1 | c.516G>A (p.Gly172=) c.258G>A (p.Gly86=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382723C>A | CA390849576 | SERPINA1 | c.515G>T (p.Gly172Val) c.257G>T (p.Gly86Val) | |
14 | g.94382723C>G | CA390849577 | SERPINA1 | c.515G>C (p.Gly172Ala) c.257G>C (p.Gly86Ala) | |
14 | g.94382723C>T | CA390849578 | SERPINA1 | c.515G>A (p.Gly172Glu) c.257G>A (p.Gly86Glu) | dbSNP |
14 | g.94382724C>A | CA7327480 | SERPINA1 | c.514G>T (p.Gly172Trp) c.256G>T (p.Gly86Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382724C= | CA2155954751 | SERPINA1 | c.514G= (p.Gly172=) c.256G= (p.Gly86=) | |
14 | g.94382724C>G | CA390849579 | SERPINA1 | c.514G>C (p.Gly172Arg) c.256G>C (p.Gly86Arg) | gnomAD v4 |
14 | g.94382724C>T | CA7327479 | SERPINA1 | c.514G>A (p.Gly172Arg) c.256G>A (p.Gly86Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.[94382724C>T;94383015_94383017del] | CA645372995 | SERPINA1 | c.[227_229del;514G>A] (p.[Phe76del;Gly172Arg]) c.[-23-9_-23-7del;256G>A] (p.Gly86Arg) | |
14 | g.94382725G>A | CA7327481 | SERPINA1 | c.513C>T (p.Phe171=) c.255C>T (p.Phe85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382725G>C | CA390849580 | SERPINA1 | c.513C>G (p.Phe171Leu) c.255C>G (p.Phe85Leu) | |
14 | g.94382725G= | CA2155954752 | SERPINA1 | c.513C= (p.Phe171=) c.255C= (p.Phe85=) | |
14 | g.94382725G>T | CA390849581 | SERPINA1 | c.513C>A (p.Phe171Leu) c.255C>A (p.Phe85Leu) | |
14 | g.94382726A>C | CA390849582 | SERPINA1 | c.512T>G (p.Phe171Cys) c.254T>G (p.Phe85Cys) | |
14 | g.94382726A>G | CA390849583 | SERPINA1 | c.512T>C (p.Phe171Ser) c.254T>C (p.Phe85Ser) | |
14 | g.94382726A>T | CA390849584 | SERPINA1 | c.512T>A (p.Phe171Tyr) c.254T>A (p.Phe85Tyr) | |
14 | g.94382727A>C | CA390849585 | SERPINA1 | c.511T>G (p.Phe171Val) c.253T>G (p.Phe85Val) | |
14 | g.94382727A>G | CA390849586 | SERPINA1 | c.511T>C (p.Phe171Leu) c.253T>C (p.Phe85Leu) | |
14 | g.94382727A>T | CA390849587 | SERPINA1 | c.511T>A (p.Phe171Ile) c.253T>A (p.Phe85Ile) | |
14 | g.94382728G>A | CA487622040 | SERPINA1 | c.510C>T (p.Asn170=) c.252C>T (p.Asn84=) | |
14 | g.94382728G>C | CA7327482 | SERPINA1 | c.510C>G (p.Asn170Lys) c.252C>G (p.Asn84Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382728G= | CA2155954753 | SERPINA1 | c.510C= (p.Asn170=) c.252C= (p.Asn84=) | |
14 | g.94382728G>T | CA390849588 | SERPINA1 | c.510C>A (p.Asn170Lys) c.252C>A (p.Asn84Lys) | |
14 | g.94382729T>A | CA390849589 | SERPINA1 | c.509A>T (p.Asn170Ile) c.251A>T (p.Asn84Ile) | |
14 | g.94382729T>C | CA390849591 | SERPINA1 | c.509A>G (p.Asn170Ser) c.251A>G (p.Asn84Ser) | |
14 | g.94382729T>G | CA390849590 | SERPINA1 | c.509A>C (p.Asn170Thr) c.251A>C (p.Asn84Thr) | COSMIC |
14 | g.94382730T>A | CA390849592 | SERPINA1 | c.508A>T (p.Asn170Tyr) c.250A>T (p.Asn84Tyr) | |
14 | g.94382730T>C | CA390849594 | SERPINA1 | c.508A>G (p.Asn170Asp) c.250A>G (p.Asn84Asp) | |
14 | g.94382730T>G | CA390849593 | SERPINA1 | c.508A>C (p.Asn170His) c.250A>C (p.Asn84His) | gnomAD v4 |
14 | g.94382731G>A | CA487622041 | SERPINA1 | c.507C>T (p.Val169=) c.249C>T (p.Val83=) | |
14 | g.94382731G>C | CA487622042 | SERPINA1 | c.507C>G (p.Val169=) c.249C>G (p.Val83=) | |
14 | g.94382731G>T | CA487622043 | SERPINA1 | c.507C>A (p.Val169=) c.249C>A (p.Val83=) | |
14 | g.94382732A>C | CA390849595 | SERPINA1 | c.506T>G (p.Val169Gly) c.248T>G (p.Val83Gly) | |
14 | g.94382732A>G | CA390849597 | SERPINA1 | c.506T>C (p.Val169Ala) c.248T>C (p.Val83Ala) | |
14 | g.94382732A>T | CA390849596 | SERPINA1 | c.506T>A (p.Val169Asp) c.248T>A (p.Val83Asp) | gnomAD v4 |
14 | g.94382733C>A | CA390849598 | SERPINA1 | c.505G>T (p.Val169Phe) c.247G>T (p.Val83Phe) | |
14 | g.94382733C= | CA2155954754 | SERPINA1 | c.505G= (p.Val169=) c.247G= (p.Val83=) | |
14 | g.94382733C>G | CA390849600 | SERPINA1 | c.505G>C (p.Val169Leu) c.247G>C (p.Val83Leu) | |
14 | g.94382733C>T | CA390849599 | SERPINA1 | c.505G>A (p.Val169Ile) c.247G>A (p.Val83Ile) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382734A>C | CA487622044 | SERPINA1 | c.504T>G (p.Thr168=) c.246T>G (p.Thr82=) | |
14 | g.94382734A>G | CA487622046 | SERPINA1 | c.504T>C (p.Thr168=) c.246T>C (p.Thr82=) | |
14 | g.94382734A>T | CA487622045 | SERPINA1 | c.504T>A (p.Thr168=) c.246T>A (p.Thr82=) | |
14 | g.94382735G>A | CA390849601 | SERPINA1 | c.503C>T (p.Thr168Ile) c.245C>T (p.Thr82Ile) | |
14 | g.94382735G>C | CA390849602 | SERPINA1 | c.503C>G (p.Thr168Ser) c.245C>G (p.Thr82Ser) | |
14 | g.94382735G>T | CA390849603 | SERPINA1 | c.503C>A (p.Thr168Asn) c.245C>A (p.Thr82Asn) | |
14 | g.94382736T>A | CA390849604 | SERPINA1 | c.502A>T (p.Thr168Ser) c.244A>T (p.Thr82Ser) | |
14 | g.94382736T>C | CA7327483 | SERPINA1 | c.502A>G (p.Thr168Ala) c.244A>G (p.Thr82Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382736T>G | CA390849605 | SERPINA1 | c.502A>C (p.Thr168Pro) c.244A>C (p.Thr82Pro) | |
14 | g.94382736T= | CA2155954755 | SERPINA1 | c.502A= (p.Thr168=) c.244A= (p.Thr82=) | |
14 | g.94382737G>A | CA487622047 | SERPINA1 | c.501C>T (p.Phe167=) c.243C>T (p.Phe81=) | |
14 | g.94382737G>C | CA390849606 | SERPINA1 | c.501C>G (p.Phe167Leu) c.243C>G (p.Phe81Leu) | |
14 | g.94382737G>T | CA390849607 | SERPINA1 | c.501C>A (p.Phe167Leu) c.243C>A (p.Phe81Leu) | |
14 | g.94382738A>C | CA390849608 | SERPINA1 | c.500T>G (p.Phe167Cys) c.242T>G (p.Phe81Cys) | |
14 | g.94382738A>G | CA390849610 | SERPINA1 | c.500T>C (p.Phe167Ser) c.242T>C (p.Phe81Ser) | |
14 | g.94382738A>T | CA390849609 | SERPINA1 | c.500T>A (p.Phe167Tyr) c.242T>A (p.Phe81Tyr) | |
14 | g.94382739A>C | CA390849611 | SERPINA1 | c.499T>G (p.Phe167Val) c.241T>G (p.Phe81Val) | |
14 | g.94382739A>G | CA390849612 | SERPINA1 | c.499T>C (p.Phe167Leu) c.241T>C (p.Phe81Leu) | gnomAD v4 |
14 | g.94382739A>T | CA390849613 | SERPINA1 | c.499T>A (p.Phe167Ile) c.241T>A (p.Phe81Ile) | |
14 | g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATC | CA2155954756 | SERPINA1 | c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=) c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=) | |
14 | g.94382740G>A | CA487622048 | SERPINA1 | c.498C>T (p.Ala166=) c.240C>T (p.Ala80=) | gnomAD v4 |
14 | g.94382740G>C | CA487622049 | SERPINA1 | c.498C>G (p.Ala166=) c.240C>G (p.Ala80=) | |
14 | g.94382740G>T | CA487622050 | SERPINA1 | c.498C>A (p.Ala166=) c.240C>A (p.Ala80=) | |
14 | g.94382740_94382769del | CA7327484 | SERPINA1 | c.469_498del (p.Asp157_Ala166del) c.211_240del (p.Asp71_Ala80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382741G>A | CA390849614 | SERPINA1 | c.497C>T (p.Ala166Val) c.239C>T (p.Ala80Val) | COSMIC |
14 | g.94382741G>C | CA390849615 | SERPINA1 | c.497C>G (p.Ala166Gly) c.239C>G (p.Ala80Gly) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382741G= | CA2155954757 | SERPINA1 | c.497C= (p.Ala166=) c.239C= (p.Ala80=) | |
14 | g.94382741G>T | CA265864118 | SERPINA1 | c.497C>A (p.Ala166Asp) c.239C>A (p.Ala80Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382742C>A | CA390849616 | SERPINA1 | c.496G>T (p.Ala166Ser) c.238G>T (p.Ala80Ser) | |
14 | g.94382742C>G | CA390849617 | SERPINA1 | c.496G>C (p.Ala166Pro) c.238G>C (p.Ala80Pro) | |
14 | g.94382742C>T | CA390849618 | SERPINA1 | c.496G>A (p.Ala166Thr) c.238G>A (p.Ala80Thr) | |
14 | g.94382743T>A | CA390849619 | SERPINA1 | c.495A>T (p.Glu165Asp) c.237A>T (p.Glu79Asp) | |
14 | g.94382743T>C | CA487622051 | SERPINA1 | c.495A>G (p.Glu165=) c.237A>G (p.Glu79=) | |
14 | g.94382743T>G | CA390849620 | SERPINA1 | c.495A>C (p.Glu165Asp) c.237A>C (p.Glu79Asp) | |
14 | g.94382744T>A | CA390849621 | SERPINA1 | c.494A>T (p.Glu165Val) c.236A>T (p.Glu79Val) | |
14 | g.94382744T>C | CA390849622 | SERPINA1 | c.494A>G (p.Glu165Gly) c.236A>G (p.Glu79Gly) | gnomAD v4 |
14 | g.94382744T>G | CA390849623 | SERPINA1 | c.494A>C (p.Glu165Ala) c.236A>C (p.Glu79Ala) | |
14 | g.94382745C>A | CA390849624 | SERPINA1 | c.493G>T (p.Glu165Ter) c.235G>T (p.Glu79Ter) | |
14 | g.94382745C>G | CA390849625 | SERPINA1 | c.493G>C (p.Glu165Gln) c.235G>C (p.Glu79Gln) | COSMIC |
14 | g.94382745C>T | CA390849626 | SERPINA1 | c.493G>A (p.Glu165Lys) c.235G>A (p.Glu79Lys) | |
14 | g.94382746T>A | CA487622052 | SERPINA1 | c.492A>T (p.Ser164=) c.234A>T (p.Ser78=) | |
14 | g.94382746T>C | CA487622054 | SERPINA1 | c.492A>G (p.Ser164=) c.234A>G (p.Ser78=) | gnomAD v4 |
14 | g.94382746T>G | CA487622053 | SERPINA1 | c.492A>C (p.Ser164=) c.234A>C (p.Ser78=) | |
14 | g.94382747G>A | CA390849715 | SERPINA1 | c.491C>T (p.Ser164Leu) c.233C>T (p.Ser78Leu) | gnomAD v4 |
14 | g.94382747G>C | CA390849719 | SERPINA1 | c.491C>G (p.Ser164Ter) c.233C>G (p.Ser78Ter) | |
14 | g.94382747G>T | CA390849717 | SERPINA1 | c.491C>A (p.Ser164Ter) c.233C>A (p.Ser78Ter) | COSMIC |
14 | g.94382748A= | CA2155954758 | SERPINA1 | c.490T= (p.Ser164=) c.232T= (p.Ser78=) | |
14 | g.94382748A>C | CA390849720 | SERPINA1 | c.490T>G (p.Ser164Ala) c.232T>G (p.Ser78Ala) | |
14 | g.94382748A>G | CA265864120 | SERPINA1 | c.490T>C (p.Ser164Pro) c.232T>C (p.Ser78Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382748A>T | CA390849723 | SERPINA1 | c.490T>A (p.Ser164Thr) c.232T>A (p.Ser78Thr) | |
14 | g.94382749G>A | CA487841009 | SERPINA1 | c.489C>T (p.His163=) c.231C>T (p.His77=) | |
14 | g.94382749G>C | CA390849725 | SERPINA1 | c.489C>G (p.His163Gln) c.231C>G (p.His77Gln) | |
14 | g.94382749G>T | CA390849726 | SERPINA1 | c.489C>A (p.His163Gln) c.231C>A (p.His77Gln) | |
14 | g.94382750T>A | CA390849727 | SERPINA1 | c.488A>T (p.His163Leu) c.230A>T (p.His77Leu) | gnomAD v4 |
14 | g.94382750T>C | CA390849728 | SERPINA1 | c.488A>G (p.His163Arg) c.230A>G (p.His77Arg) | gnomAD v4 |
14 | g.94382750T>G | CA390849730 | SERPINA1 | c.488A>C (p.His163Pro) c.230A>C (p.His77Pro) | |
14 | g.94382751G>A | CA390849731 | SERPINA1 | c.487C>T (p.His163Tyr) c.229C>T (p.His77Tyr) | gnomAD v4 |
14 | g.94382751G>C | CA390849733 | SERPINA1 | c.487C>G (p.His163Asp) c.229C>G (p.His77Asp) | |
14 | g.94382751G>T | CA390849735 | SERPINA1 | c.487C>A (p.His163Asn) c.229C>A (p.His77Asn) | |
14 | g.94382752G>A | CA487841010 | SERPINA1 | c.486C>T (p.Tyr162=) c.228C>T (p.Tyr76=) | |
14 | g.94382752G>C | CA390849736 | SERPINA1 | c.486C>G (p.Tyr162Ter) c.228C>G (p.Tyr76Ter) | |
14 | g.94382752G>T | CA390849738 | SERPINA1 | c.486C>A (p.Tyr162Ter) c.228C>A (p.Tyr76Ter) | |
14 | g.94382753T>A | CA390849740 | SERPINA1 | c.485A>T (p.Tyr162Phe) c.227A>T (p.Tyr76Phe) | |
14 | g.94382753T>C | CA390849743 | SERPINA1 | c.485A>G (p.Tyr162Cys) c.227A>G (p.Tyr76Cys) | |
14 | g.94382753T>G | CA390849741 | SERPINA1 | c.485A>C (p.Tyr162Ser) c.227A>C (p.Tyr76Ser) | |
14 | g.94382754A>C | CA390849745 | SERPINA1 | c.484T>G (p.Tyr162Asp) c.226T>G (p.Tyr76Asp) | |
14 | g.94382754A>G | CA390849746 | SERPINA1 | c.484T>C (p.Tyr162His) c.226T>C (p.Tyr76His) | |
14 | g.94382754A>T | CA390849748 | SERPINA1 | c.484T>A (p.Tyr162Asn) c.226T>A (p.Tyr76Asn) | |
14 | g.94382755C>A | CA390849750 | SERPINA1 | c.483G>T (p.Leu161Phe) c.225G>T (p.Leu75Phe) | dbSNP gnomAD v4 |
14 | g.94382755C= | CA2155954759 | SERPINA1 | c.483G= (p.Leu161=) c.225G= (p.Leu75=) | |
14 | g.94382755C>G | CA390849752 | SERPINA1 | c.483G>C (p.Leu161Phe) c.225G>C (p.Leu75Phe) | gnomAD v4 |
14 | g.94382755C>T | CA265864121 | SERPINA1 | c.483G>A (p.Leu161=) c.225G>A (p.Leu75=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382756A>C | CA390849754 | SERPINA1 | c.482T>G (p.Leu161Trp) c.224T>G (p.Leu75Trp) | gnomAD v4 |
14 | g.94382756A>G | CA390849755 | SERPINA1 | c.482T>C (p.Leu161Ser) c.224T>C (p.Leu75Ser) | |
14 | g.94382756A>T | CA390849757 | SERPINA1 | c.482T>A (p.Leu161Ter) c.224T>A (p.Leu75Ter) | |
14 | g.94382757A>C | CA390849758 | SERPINA1 | c.481T>G (p.Leu161Val) c.223T>G (p.Leu75Val) | |
14 | g.94382757A>G | CA487841013 | SERPINA1 | c.481T>C (p.Leu161=) c.223T>C (p.Leu75=) | ClinVar gnomAD v4 |
14 | g.94382757A>T | CA390849760 | SERPINA1 | c.481T>A (p.Leu161Met) c.223T>A (p.Leu75Met) | |
14 | g.94382758del | CA2695199866 | SERPINA1 | c.480del (p.Lys160AsnfsTer?) c.222del (p.Lys74AsnfsTer?) | ClinVar |
14 | g.94382758C>A | CA390849762 | SERPINA1 | c.480G>T (p.Lys160Asn) c.222G>T (p.Lys74Asn) | |
14 | g.94382758C>G | CA390849763 | SERPINA1 | c.480G>C (p.Lys160Asn) c.222G>C (p.Lys74Asn) | gnomAD v4 |
14 | g.94382758C>T | CA487841016 | SERPINA1 | c.480G>A (p.Lys160=) c.222G>A (p.Lys74=) | |
14 | g.94382759T>A | CA390849764 | SERPINA1 | c.479A>T (p.Lys160Met) c.221A>T (p.Lys74Met) | |
14 | g.94382759T>C | CA390849768 | SERPINA1 | c.479A>G (p.Lys160Arg) c.221A>G (p.Lys74Arg) | |
14 | g.94382759T>G | CA390849766 | SERPINA1 | c.479A>C (p.Lys160Thr) c.221A>C (p.Lys74Thr) | dbSNP |
14 | g.94382759T= | CA2155954760 | SERPINA1 | c.479A= (p.Lys160=) c.221A= (p.Lys74=) | |
14 | g.94382763dup | CA645582240 | SERPINA1 | c.479dup (p.Leu161ValfsTer?) c.221dup (p.Leu75ValfsTer?) | COSMIC |
14 | g.94382763del | CA645582239 | SERPINA1 | c.479del (p.Lys160SerfsTer?) c.221del (p.Lys74SerfsTer?) | COSMIC |
14 | g.94382760T>A | CA390849770 | SERPINA1 | c.478A>T (p.Lys160Ter) c.220A>T (p.Lys74Ter) | |
14 | g.94382760T>C | CA390849771 | SERPINA1 | c.478A>G (p.Lys160Glu) c.220A>G (p.Lys74Glu) | |
14 | g.94382760T>G | CA390849772 | SERPINA1 | c.478A>C (p.Lys160Gln) c.220A>C (p.Lys74Gln) | dbSNP |
14 | g.94382760T= | CA2155954761 | SERPINA1 | c.478A= (p.Lys160=) c.220A= (p.Lys74=) | |
14 | g.94382761T>A | CA390849774 | SERPINA1 | c.477A>T (p.Lys159Asn) c.219A>T (p.Lys73Asn) | |
14 | g.94382761T>C | CA7327485 | SERPINA1 | c.477A>G (p.Lys159=) c.219A>G (p.Lys73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382761T>G | CA390849776 | SERPINA1 | c.477A>C (p.Lys159Asn) c.219A>C (p.Lys73Asn) | |
14 | g.94382761T= | CA2155954762 | SERPINA1 | c.477A= (p.Lys159=) c.219A= (p.Lys73=) | |
14 | g.94382762T>A | CA390849777 | SERPINA1 | c.476A>T (p.Lys159Ile) c.218A>T (p.Lys73Ile) | |
14 | g.94382762T>C | CA390849779 | SERPINA1 | c.476A>G (p.Lys159Arg) c.218A>G (p.Lys73Arg) | |
14 | g.94382762T>G | CA390849781 | SERPINA1 | c.476A>C (p.Lys159Thr) c.218A>C (p.Lys73Thr) | |
14 | g.94382763T>A | CA390849783 | SERPINA1 | c.475A>T (p.Lys159Ter) c.217A>T (p.Lys73Ter) | ClinVar |
14 | g.94382763T>C | CA390849784 | SERPINA1 | c.475A>G (p.Lys159Glu) c.217A>G (p.Lys73Glu) | |
14 | g.94382763T>G | CA390849785 | SERPINA1 | c.475A>C (p.Lys159Gln) c.217A>C (p.Lys73Gln) | |
14 | g.94382764A>C | CA487841022 | SERPINA1 | c.474T>G (p.Val158=) c.216T>G (p.Val72=) | |
14 | g.94382764A>G | CA487841023 | SERPINA1 | c.474T>C (p.Val158=) c.216T>C (p.Val72=) | |
14 | g.94382764A>T | CA487841024 | SERPINA1 | c.474T>A (p.Val158=) c.216T>A (p.Val72=) | |
14 | g.94382765A>C | CA390849791 | SERPINA1 | c.473T>G (p.Val158Gly) c.215T>G (p.Val72Gly) | |
14 | g.94382765A>G | CA390849787 | SERPINA1 | c.473T>C (p.Val158Ala) c.215T>C (p.Val72Ala) | |
14 | g.94382765A>T | CA390849789 | SERPINA1 | c.473T>A (p.Val158Asp) c.215T>A (p.Val72Asp) | |
14 | g.94382766C>A | CA7327486 | SERPINA1 | c.472G>T (p.Val158Phe) c.214G>T (p.Val72Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382766C= | CA2155954763 | SERPINA1 | c.472G= (p.Val158=) c.214G= (p.Val72=) | |
14 | g.94382766C>G | CA390849792 | SERPINA1 | c.472G>C (p.Val158Leu) c.214G>C (p.Val72Leu) | |
14 | g.94382766C>T | CA390849794 | SERPINA1 | c.472G>A (p.Val158Ile) c.214G>A (p.Val72Ile) | gnomAD v4 |
14 | g.94382767A= | CA2155954764 | SERPINA1 | c.471T= (p.Asp157=) c.213T= (p.Asp71=) | |
14 | g.94382767A>C | CA390849796 | SERPINA1 | c.471T>G (p.Asp157Glu) c.213T>G (p.Asp71Glu) | |
14 | g.94382767A>G | CA487841026 | SERPINA1 | c.471T>C (p.Asp157=) c.213T>C (p.Asp71=) | |
14 | g.94382767A>T | CA390849798 | SERPINA1 | c.471T>A (p.Asp157Glu) c.213T>A (p.Asp71Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382768T>A | CA390849799 | SERPINA1 | c.470A>T (p.Asp157Val) c.212A>T (p.Asp71Val) | ClinVar dbSNP gnomAD v4 |
14 | g.94382768T>C | CA7327487 | SERPINA1 | c.470A>G (p.Asp157Gly) c.212A>G (p.Asp71Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382768T>G | CA390849802 | SERPINA1 | c.470A>C (p.Asp157Ala) c.212A>C (p.Asp71Ala) | |
14 | g.94382768T= | CA2155954765 | SERPINA1 | c.470A= (p.Asp157=) c.212A= (p.Asp71=) |