| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.94382645T>C | CA390849401 | SERPINA1 | c.593A>G (p.Lys198Arg) | gnomAD v4 |
| 14 | g.94382645T>G | CA390849402 | SERPINA1 | c.593A>C (p.Lys198Thr) | |
| 14 | g.94382646T>A | CA390849404 | SERPINA1 | c.592A>T (p.Lys198Ter) | |
| 14 | g.94382646T>C | CA7327465 | SERPINA1 | c.592A>G (p.Lys198Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382646T>G | CA390849403 | SERPINA1 | c.592A>C (p.Lys198Gln) | |
| 14 | g.94382646T= | CA2155954717 | SERPINA1 | c.592A= (p.Lys198=) | |
| 14 | g.94382647G>A | CA487621949 | SERPINA1 | c.591C>T (p.Val197=) | gnomAD v4 |
| 14 | g.94382647G>C | CA487621950 | SERPINA1 | c.591C>G (p.Val197=) | |
| 14 | g.94382647G>T | CA487621951 | SERPINA1 | c.591C>A (p.Val197=) | |
| 14 | g.94382648A>C | CA390849405 | SERPINA1 | c.590T>G (p.Val197Gly) | |
| 14 | g.94382648A>G | CA390849406 | SERPINA1 | c.590T>C (p.Val197Ala) | gnomAD v4 |
| 14 | g.94382648A>T | CA390849407 | SERPINA1 | c.590T>A (p.Val197Asp) | |
| 14 | g.94382649C>A | CA390849408 | SERPINA1 | c.589G>T (p.Val197Phe) | gnomAD v4 COSMIC |
| 14 | g.94382649C>G | CA390849409 | SERPINA1 | c.589G>C (p.Val197Leu) | |
| 14 | g.94382649C>T | CA390849410 | SERPINA1 | c.589G>A (p.Val197Ile) | gnomAD v4 |
| 14 | g.94382652_94382657del | CA2575614297 | SERPINA1 | c.584_589del (p.Asp195_Leu196del) | |
| 14 | g.94382650C>A | CA390849411 | SERPINA1 | c.588G>T (p.Leu196Phe) | |
| 14 | g.94382650C= | CA2155954718 | SERPINA1 | c.588G= (p.Leu196=) | |
| 14 | g.94382650C>G | CA390849412 | SERPINA1 | c.588G>C (p.Leu196Phe) | |
| 14 | g.94382650C>T | CA487621956 | SERPINA1 | c.588G>A (p.Leu196=) | ClinVar dbSNP |
| 14 | g.94382651A= | CA2155954719 | SERPINA1 | c.587T= (p.Leu196=) | |
| 14 | g.94382651A>C | CA390849413 | SERPINA1 | c.587T>G (p.Leu196Trp) | |
| 14 | g.94382651A>G | CA7327466 | SERPINA1 | c.587T>C (p.Leu196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382651A>T | CA390849414 | SERPINA1 | c.587T>A (p.Leu196Ter) | |
| 14 | g.94382651_94382653delinsAAA | CA2155954720 | SERPINA1 | c.585_587delinsTTT (p.Asp195=) | |
| 14 | g.94382652A>C | CA390849415 | SERPINA1 | c.586T>G (p.Leu196Val) | |
| 14 | g.94382652A>G | CA487621961 | SERPINA1 | c.586T>C (p.Leu196=) | |
| 14 | g.94382652A>T | CA390849416 | SERPINA1 | c.586T>A (p.Leu196Met) |