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