| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382633_94382634del | CA2580612789 | SERPINA1 | c.607_608del (p.Asp203HisfsTer12) | ClinVar dbSNP |
| 14 | g.94382632T>A | CA390849372 | SERPINA1 | c.606A>T (p.Arg202Ser) | |
| 14 | g.94382632T>C | CA487621909 | SERPINA1 | c.606A>G (p.Arg202=) | |
| 14 | g.94382632T>G | CA390849373 | SERPINA1 | c.606A>C (p.Arg202Ser) | |
| 14 | g.94382633C>A | CA390849374 | SERPINA1 | c.605G>T (p.Arg202Ile) | |
| 14 | g.94382633C= | CA2155954711 | SERPINA1 | c.605G= (p.Arg202=) | |
| 14 | g.94382633C>G | CA390849375 | SERPINA1 | c.605G>C (p.Arg202Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382633C>T | CA7327462 | SERPINA1 | c.605G>A (p.Arg202Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382634T>A | CA390849376 | SERPINA1 | c.604A>T (p.Arg202Ter) | |
| 14 | g.94382634T>C | CA390849377 | SERPINA1 | c.604A>G (p.Arg202Gly) | |
| 14 | g.94382634T>G | CA487621915 | SERPINA1 | c.604A>C (p.Arg202=) | |
| 14 | g.94382635G>A | CA487621916 | SERPINA1 | c.603C>T (p.Asp201=) | |
| 14 | g.94382635G>C | CA390849378 | SERPINA1 | c.603C>G (p.Asp201Glu) | dbSNP |
| 14 | g.94382635G= | CA2155954712 | SERPINA1 | c.603C= (p.Asp201=) | |
| 14 | g.94382635G>T | CA390849379 | SERPINA1 | c.603C>A (p.Asp201Glu) | gnomAD v4 |
| 14 | g.94382636T>A | CA390849380 | SERPINA1 | c.602A>T (p.Asp201Val) | |
| 14 | g.94382636T>C | CA390849382 | SERPINA1 | c.602A>G (p.Asp201Gly) | dbSNP |
| 14 | g.94382636T>G | CA390849381 | SERPINA1 | c.602A>C (p.Asp201Ala) | |
| 14 | g.94382636T= | CA2155954713 | SERPINA1 | c.602A= (p.Asp201=) | |
| 14 | g.94382636_94382637insGTCTCTCT | CA2695219660 | SERPINA1 | c.602_603insGAGAGACA (p.Asp201GlufsTer12) | |
| 14 | g.94382637C>A | CA390849383 | SERPINA1 | c.601G>T (p.Asp201Tyr) | COSMIC |
| 14 | g.94382637C= | CA2155954714 | SERPINA1 | c.601G= (p.Asp201=) | |
| 14 | g.94382637C>G | CA390849384 | SERPINA1 | c.601G>C (p.Asp201His) | |
| 14 | g.94382637C>T | CA265864101 | SERPINA1 | c.601G>A (p.Asp201Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382638A= | CA2155954715 | SERPINA1 | c.600T= (p.Leu200=) | |
| 14 | g.94382638A>C | CA487621928 | SERPINA1 | c.600T>G (p.Leu200=) | |
| 14 | g.94382638A>G | CA7327463 | SERPINA1 | c.600T>C (p.Leu200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382638A>T | CA487621927 | SERPINA1 | c.600T>A (p.Leu200=) | |
| 14 | g.94382638_94382639del | CA2626309919 | SERPINA1 | c.599_600del (p.Leu200ArgfsTer15) | gnomAD v4 |
| 14 | g.94382639A>C | CA390849385 | SERPINA1 | c.599T>G (p.Leu200Arg) | |
| 14 | g.94382639A>G | CA390849386 | SERPINA1 | c.599T>C (p.Leu200Pro) | |
| 14 | g.94382639A>T | CA390849387 | SERPINA1 | c.599T>A (p.Leu200His) | |
| 14 | g.94382640del | CA2626309922 | SERPINA1 | c.598del (p.Asp201ThrfsTer9) | gnomAD v4 |
| 14 | g.94382640G>A | CA390849388 | SERPINA1 | c.598C>T (p.Leu200Phe) | |
| 14 | g.94382640G>C | CA390849389 | SERPINA1 | c.598C>G (p.Leu200Val) | |
| 14 | g.94382640G>T | CA390849390 | SERPINA1 | c.598C>A (p.Leu200Ile) | |
| 14 | g.94382641C>A | CA7327464 | SERPINA1 | c.597G>T (p.Glu199Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382641C= | CA2155954716 | SERPINA1 | c.597G= (p.Glu199=) | |
| 14 | g.94382641C>G | CA390849391 | SERPINA1 | c.597G>C (p.Glu199Asp) | gnomAD v4 |
| 14 | g.94382641C>T | CA487621935 | SERPINA1 | c.597G>A (p.Glu199=) | gnomAD v4 |
| 14 | g.94382642T>A | CA390849392 | SERPINA1 | c.596A>T (p.Glu199Val) | |
| 14 | g.94382642T>C | CA390849393 | SERPINA1 | c.596A>G (p.Glu199Gly) | |
| 14 | g.94382642T>G | CA390849394 | SERPINA1 | c.596A>C (p.Glu199Ala) | |
| 14 | g.94382643C>A | CA390849395 | SERPINA1 | c.595G>T (p.Glu199Ter) | |
| 14 | g.94382643C>G | CA390849396 | SERPINA1 | c.595G>C (p.Glu199Gln) | |
| 14 | g.94382643C>T | CA390849397 | SERPINA1 | c.595G>A (p.Glu199Lys) | gnomAD v4 |
| 14 | g.94382644C>A | CA390849398 | SERPINA1 | c.594G>T (p.Lys198Asn) | |
| 14 | g.94382644C>G | CA390849399 | SERPINA1 | c.594G>C (p.Lys198Asn) | |
| 14 | g.94382644C>T | CA487621943 | SERPINA1 | c.594G>A (p.Lys198=) | |
| 14 | g.94382645T>A | CA390849400 | SERPINA1 | c.593A>T (p.Lys198Met) |