| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | 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) |