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