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.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) | ClinVar |
| 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=) | |
| 14 | g.94382769C>A | CA390849803 | SERPINA1 | c.469G>T (p.Asp157Tyr) c.211G>T (p.Asp71Tyr) c.469G>T | |
| 14 | g.94382769C= | CA2155954766 | SERPINA1 | c.469G= (p.Asp157=) c.211G= (p.Asp71=) c.469G= | |
| 14 | g.94382769C>G | CA390849805 | SERPINA1 | c.469G>C (p.Asp157His) c.211G>C (p.Asp71His) c.469G>C | |
| 14 | g.94382769C>T | CA390849806 | SERPINA1 | c.469G>A (p.Asp157Asn) c.211G>A (p.Asp71Asn) c.469G>A | ClinVar dbSNP |
| 14 | g.94382770C>A | CA390849807 | SERPINA1 | c.468G>T (p.Glu156Asp) c.210G>T (p.Glu70Asp) | |
| 14 | g.94382770C>G | CA390849809 | SERPINA1 | c.468G>C (p.Glu156Asp) c.210G>C (p.Glu70Asp) | |
| 14 | g.94382770C>T | CA487841030 | SERPINA1 | c.468G>A (p.Glu156=) c.210G>A (p.Glu70=) | |
| 14 | g.94382771T>A | CA390849811 | SERPINA1 | c.467A>T (p.Glu156Val) c.209A>T (p.Glu70Val) | |
| 14 | g.94382771T>C | CA390849812 | SERPINA1 | c.467A>G (p.Glu156Gly) c.209A>G (p.Glu70Gly) | |
| 14 | g.94382771T>G | CA390849814 | SERPINA1 | c.467A>C (p.Glu156Ala) c.209A>C (p.Glu70Ala) | |
| 14 | g.94382772C>A | CA265864124 | SERPINA1 | c.466G>T (p.Glu156Ter) c.208G>T (p.Glu70Ter) | dbSNP |
| 14 | g.94382772C= | CA2155954767 | SERPINA1 | c.466G= (p.Glu156=) c.208G= (p.Glu70=) | |
| 14 | g.94382772C>G | CA390849817 | SERPINA1 | c.466G>C (p.Glu156Gln) c.208G>C (p.Glu70Gln) | |
| 14 | g.94382772C>T | CA7327488 | SERPINA1 | c.466G>A (p.Glu156Lys) c.208G>A (p.Glu70Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382773C>A | CA390849819 | SERPINA1 | c.465G>T (p.Leu155Phe) c.207G>T (p.Leu69Phe) | |
| 14 | g.94382773C= | CA2155954768 | SERPINA1 | c.465G= (p.Leu155=) c.207G= (p.Leu69=) | |
| 14 | g.94382773C>G | CA390849821 | SERPINA1 | c.465G>C (p.Leu155Phe) c.207G>C (p.Leu69Phe) | gnomAD v4 |
| 14 | g.94382773C>T | CA487841034 | SERPINA1 | c.465G>A (p.Leu155=) c.207G>A (p.Leu69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382773_94382774delinsCA | CA2155954769 | SERPINA1 | c.464_465delinsTG (p.Leu155=) c.206_207delinsTG (p.Leu69=) | |
| 14 | g.94382774A>C | CA390849823 | SERPINA1 | c.464T>G (p.Leu155Trp) c.206T>G (p.Leu69Trp) | |
| 14 | g.94382774A>G | CA390849824 | SERPINA1 | c.464T>C (p.Leu155Ser) c.206T>C (p.Leu69Ser) | |
| 14 | g.94382774A>T | CA390849826 | SERPINA1 | c.464T>A (p.Leu155Ter) c.206T>A (p.Leu69Ter) | |
| 14 | g.94382778del | CA7327489 | SERPINA1 | c.464del (p.Leu155TrpfsTer?) c.206del (p.Leu69TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382775A= | CA2155954770 | SERPINA1 | c.463T= (p.Leu155=) c.205T= (p.Leu69=) | |
| 14 | g.94382775A>C | CA390849830 | SERPINA1 | c.463T>G (p.Leu155Val) c.205T>G (p.Leu69Val) | |
| 14 | g.94382775A>G | CA7327490 | SERPINA1 | c.463T>C (p.Leu155=) c.205T>C (p.Leu69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382775A>T | CA390849828 | SERPINA1 | c.463T>A (p.Leu155Met) c.205T>A (p.Leu69Met) | |
| 14 | g.94382776A>C | CA390849832 | SERPINA1 | c.462T>G (p.Phe154Leu) c.204T>G (p.Phe68Leu) | |
| 14 | g.94382776A>G | CA487841036 | SERPINA1 | c.462T>C (p.Phe154=) c.204T>C (p.Phe68=) | |
| 14 | g.94382776A>T | CA390849834 | SERPINA1 | c.462T>A (p.Phe154Leu) c.204T>A (p.Phe68Leu) | |
| 14 | g.94382777A>C | CA390849836 | SERPINA1 | c.461T>G (p.Phe154Cys) c.203T>G (p.Phe68Cys) | |
| 14 | g.94382777A>G | CA390849838 | SERPINA1 | c.461T>C (p.Phe154Ser) c.203T>C (p.Phe68Ser) | COSMIC |
| 14 | g.94382777A>T | CA390849839 | SERPINA1 | c.461T>A (p.Phe154Tyr) c.203T>A (p.Phe68Tyr) | |
| 14 | g.94382778A= | CA2155954771 | SERPINA1 | c.460T= (p.Phe154=) c.202T= (p.Phe68=) | |
| 14 | g.94382778A>C | CA390849841 | SERPINA1 | c.460T>G (p.Phe154Val) c.202T>G (p.Phe68Val) | |
| 14 | g.94382778A>G | CA7327491 | SERPINA1 | c.460T>C (p.Phe154Leu) c.202T>C (p.Phe68Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382778A>T | CA390849843 | SERPINA1 | c.460T>A (p.Phe154Ile) c.202T>A (p.Phe68Ile) | |
| 14 | g.94382779C>A | CA390849845 | SERPINA1 | c.459G>T (p.Lys153Asn) c.201G>T (p.Lys67Asn) | |
| 14 | g.94382779C>G | CA390849846 | SERPINA1 | c.459G>C (p.Lys153Asn) c.201G>C (p.Lys67Asn) | |
| 14 | g.94382779C>T | CA487841038 | SERPINA1 | c.459G>A (p.Lys153=) c.201G>A (p.Lys67=) | gnomAD v4 |
| 14 | g.94382780T>A | CA390849848 | SERPINA1 | c.458A>T (p.Lys153Met) c.200A>T (p.Lys67Met) | |
| 14 | g.94382780T>C | CA390849849 | SERPINA1 | c.458A>G (p.Lys153Arg) c.200A>G (p.Lys67Arg) | |
| 14 | g.94382780T>G | CA390849850 | SERPINA1 | c.458A>C (p.Lys153Thr) c.200A>C (p.Lys67Thr) | |
| 14 | g.94382781T>A | CA390849854 | SERPINA1 | c.457A>T (p.Lys153Ter) c.199A>T (p.Lys67Ter) | gnomAD v4 |
| 14 | g.94382781T>C | CA7327492 | SERPINA1 | c.457A>G (p.Lys153Glu) c.199A>G (p.Lys67Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382781T>G | CA390849852 | SERPINA1 | c.457A>C (p.Lys153Gln) c.199A>C (p.Lys67Gln) | |
| 14 | g.94382781T= | CA2155954772 | SERPINA1 | c.457A= (p.Lys153=) c.199A= (p.Lys67=) | |
| 14 | g.94382782A>C | CA390849857 | SERPINA1 | c.456T>G (p.Asp152Glu) c.198T>G (p.Asp66Glu) | COSMIC |
| 14 | g.94382782A>G | CA487841040 | SERPINA1 | c.456T>C (p.Asp152=) c.198T>C (p.Asp66=) | |
| 14 | g.94382782A>T | CA390849855 | SERPINA1 | c.456T>A (p.Asp152Glu) c.198T>A (p.Asp66Glu) | |
| 14 | g.94382783T>A | CA390849860 | SERPINA1 | c.455A>T (p.Asp152Val) c.197A>T (p.Asp66Val) | |
| 14 | g.94382783T>C | CA7327493 | SERPINA1 | c.455A>G (p.Asp152Gly) c.197A>G (p.Asp66Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382783T>G | CA390849861 | SERPINA1 | c.455A>C (p.Asp152Ala) c.197A>C (p.Asp66Ala) | |
| 14 | g.94382783T= | CA2155954773 | SERPINA1 | c.455A= (p.Asp152=) c.197A= (p.Asp66=) | |
| 14 | g.94382784C>A | CA390849862 | SERPINA1 | c.454G>T (p.Asp152Tyr) c.196G>T (p.Asp66Tyr) | gnomAD v4 |
| 14 | g.94382784C>G | CA390849863 | SERPINA1 | c.454G>C (p.Asp152His) c.196G>C (p.Asp66His) | |
| 14 | g.94382784C>T | CA390849865 | SERPINA1 | c.454G>A (p.Asp152Asn) c.196G>A (p.Asp66Asn) | |
| 14 | g.94382785C>A | CA487841042 | SERPINA1 | c.453G>T (p.Val151=) c.195G>T (p.Val65=) | |
| 14 | g.94382785C= | CA2155954775 | SERPINA1 | c.453G= (p.Val151=) c.195G= (p.Val65=) | |
| 14 | g.94382785C>G | CA487841043 | SERPINA1 | c.453G>C (p.Val151=) c.195G>C (p.Val65=) | |
| 14 | g.94382785C>T | CA487841044 | SERPINA1 | c.453G>A (p.Val151=) c.195G>A (p.Val65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382785_94382788delinsCACT | CA2155954774 | SERPINA1 | c.450_453delinsAGTG (p.Leu150=) c.192_195delinsAGTG (p.Leu64=) | |
| 14 | g.94382786A>C | CA390849867 | SERPINA1 | c.452T>G (p.Val151Gly) c.194T>G (p.Val65Gly) | |
| 14 | g.94382786A>G | CA390849868 | SERPINA1 | c.452T>C (p.Val151Ala) c.194T>C (p.Val65Ala) | gnomAD v4 |
| 14 | g.94382786A>T | CA390849869 | SERPINA1 | c.452T>A (p.Val151Glu) c.194T>A (p.Val65Glu) | |
| 14 | g.94382787_94382789del | CA616114859 | SERPINA1 | c.450_452del (p.Val151del) c.192_194del (p.Val65del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382787C>A | CA390849871 | SERPINA1 | c.451G>T (p.Val151Leu) c.193G>T (p.Val65Leu) | |
| 14 | g.94382787C= | CA2155954776 | SERPINA1 | c.451G= (p.Val151=) c.193G= (p.Val65=) | |
| 14 | g.94382787C>G | CA7327494 | SERPINA1 | c.451G>C (p.Val151Leu) c.193G>C (p.Val65Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382787C>T | CA390849872 | SERPINA1 | c.451G>A (p.Val151Met) c.193G>A (p.Val65Met) | dbSNP |
| 14 | g.94382788T>A | CA487841045 | SERPINA1 | c.450A>T (p.Leu150=) c.192A>T (p.Leu64=) | |
| 14 | g.94382788T>C | CA7327495 | SERPINA1 | c.450A>G (p.Leu150=) c.192A>G (p.Leu64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382788T>G | CA487841046 | SERPINA1 | c.450A>C (p.Leu150=) c.192A>C (p.Leu64=) | |
| 14 | g.94382788T= | CA2155954777 | SERPINA1 | c.450A= (p.Leu150=) c.192A= (p.Leu64=) | |
| 14 | g.94382789A= | CA2155954778 | SERPINA1 | c.449T= (p.Leu150=) c.191T= (p.Leu64=) | |
| 14 | g.94382789A>C | CA390849876 | SERPINA1 | c.449T>G (p.Leu150Arg) c.191T>G (p.Leu64Arg) | |
| 14 | g.94382789A>G | CA390849877 | SERPINA1 | c.449T>C (p.Leu150Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382789A>T | CA390849879 | SERPINA1 | c.449T>A (p.Leu150Gln) c.191T>A (p.Leu64Gln) | |
| 14 | g.94382790G>A | CA487841047 | SERPINA1 | c.448C>T (p.Leu150=) c.190C>T (p.Leu64=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382790G>C | CA390849880 | SERPINA1 | c.448C>G (p.Leu150Val) c.190C>G (p.Leu64Val) | |
| 14 | g.94382790G= | CA2155954779 | SERPINA1 | c.448C= (p.Leu150=) c.190C= (p.Leu64=) | |
| 14 | g.94382790G>T | CA390849881 | SERPINA1 | c.448C>A (p.Leu150Ile) c.190C>A (p.Leu64Ile) | |
| 14 | g.94382791C>A | CA390849883 | SERPINA1 | c.447G>T (p.Lys149Asn) c.189G>T (p.Lys63Asn) | |
| 14 | g.94382791C= | CA2155954780 | SERPINA1 | c.447G= (p.Lys149=) c.189G= (p.Lys63=) | |
| 14 | g.94382791C>G | CA390849884 | SERPINA1 | c.447G>C (p.Lys149Asn) c.189G>C (p.Lys63Asn) | |
| 14 | g.94382791C>T | CA7327496 | SERPINA1 | c.447G>A (p.Lys149=) c.189G>A (p.Lys63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382792T>A | CA390849885 | SERPINA1 | c.446A>T (p.Lys149Met) c.188A>T (p.Lys63Met) | |
| 14 | g.94382792T>C | CA390849887 | SERPINA1 | c.446A>G (p.Lys149Arg) c.188A>G (p.Lys63Arg) | |
| 14 | g.94382792T>G | CA390849889 | SERPINA1 | c.446A>C (p.Lys149Thr) c.188A>C (p.Lys63Thr) | |
| 14 | g.94382793T>A | CA390849891 | SERPINA1 | c.445A>T (p.Lys149Ter) c.187A>T (p.Lys63Ter) | |
| 14 | g.94382793T>C | CA390849892 | SERPINA1 | c.445A>G (p.Lys149Glu) c.187A>G (p.Lys63Glu) | |
| 14 | g.94382793T>G | CA390849894 | SERPINA1 | c.445A>C (p.Lys149Gln) c.187A>C (p.Lys63Gln) | |
| 14 | g.94382794C>A | CA487841049 | SERPINA1 | c.444G>T (p.Leu148=) c.186G>T (p.Leu62=) | |
| 14 | g.94382794C>G | CA487841051 | SERPINA1 | c.444G>C (p.Leu148=) c.186G>C (p.Leu62=) | |
| 14 | g.94382794C>T | CA487841052 | SERPINA1 | c.444G>A (p.Leu148=) c.186G>A (p.Leu62=) | gnomAD v4 COSMIC |
| 14 | g.94382795A>C | CA390849895 | SERPINA1 | c.443T>G (p.Leu148Arg) c.185T>G (p.Leu62Arg) | |
| 14 | g.94382795A>G | CA390849897 | SERPINA1 | c.443T>C (p.Leu148Pro) c.185T>C (p.Leu62Pro) | |
| 14 | g.94382795A>T | CA390849899 | SERPINA1 | c.443T>A (p.Leu148Gln) c.185T>A (p.Leu62Gln) | |
| 14 | g.94382796G>A | CA487841053 | SERPINA1 | c.442C>T (p.Leu148=) c.184C>T (p.Leu62=) | |
| 14 | g.94382796G>C | CA390849900 | SERPINA1 | c.442C>G (p.Leu148Val) c.184C>G (p.Leu62Val) | |
| 14 | g.94382796G>T | CA390849902 | SERPINA1 | c.442C>A (p.Leu148Met) c.184C>A (p.Leu62Met) | |
| 14 | g.94382797G>A | CA487841057 | SERPINA1 | c.441C>T (p.Gly147=) c.183C>T (p.Gly61=) | |
| 14 | g.94382797G>C | CA487841056 | SERPINA1 | c.441C>G (p.Gly147=) c.183C>G (p.Gly61=) | ClinVar |
| 14 | g.94382797G>T | CA487841055 | SERPINA1 | c.441C>A (p.Gly147=) c.183C>A (p.Gly61=) | |
| 14 | g.94382798C>A | CA390849904 | SERPINA1 | c.440G>T (p.Gly147Val) c.182G>T (p.Gly61Val) | gnomAD v4 |
| 14 | g.94382798C>G | CA390849905 | SERPINA1 | c.440G>C (p.Gly147Ala) c.182G>C (p.Gly61Ala) | |
| 14 | g.94382798C>T | CA390849906 | SERPINA1 | c.440G>A (p.Gly147Asp) c.182G>A (p.Gly61Asp) | |
| 14 | g.94382799C>A | CA390849907 | SERPINA1 | c.439G>T (p.Gly147Cys) c.181G>T (p.Gly61Cys) | |
| 14 | g.94382799C>G | CA390849909 | SERPINA1 | c.439G>C (p.Gly147Arg) c.181G>C (p.Gly61Arg) | |
| 14 | g.94382799C>T | CA390849911 | SERPINA1 | c.439G>A (p.Gly147Ser) c.181G>A (p.Gly61Ser) |