| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382674A= | CA2155954727 | SERPINA1 | c.564T= (p.Gly188=) c.306T= (p.Gly102=) | |
| 14 | g.94382674A>C | CA487622008 | SERPINA1 | c.564T>G (p.Gly188=) c.306T>G (p.Gly102=) | |
| 14 | g.94382674A>G | CA487622010 | SERPINA1 | c.564T>C (p.Gly188=) c.306T>C (p.Gly102=) | |
| 14 | g.94382674A>T | CA7327468 | SERPINA1 | c.564T>A (p.Gly188=) c.306T>A (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.94382675C>A | CA390849466 | SERPINA1 | c.563G>T (p.Gly188Val) c.305G>T (p.Gly102Val) | |
| 14 | g.94382675C>G | CA390849467 | SERPINA1 | c.563G>C (p.Gly188Ala) c.305G>C (p.Gly102Ala) | |
| 14 | g.94382675C>T | CA390849468 | SERPINA1 | c.563G>A (p.Gly188Asp) c.305G>A (p.Gly102Asp) | gnomAD v4 COSMIC |
| 14 | g.94382676C>A | CA390849469 | SERPINA1 | c.562G>T (p.Gly188Cys) c.304G>T (p.Gly102Cys) | |
| 14 | g.94382676C= | CA2155954728 | SERPINA1 | c.562G= (p.Gly188=) c.304G= (p.Gly102=) | |
| 14 | g.94382676C>G | CA390849470 | SERPINA1 | c.562G>C (p.Gly188Arg) c.304G>C (p.Gly102Arg) | dbSNP |
| 14 | g.94382676C>T | CA7327469 | SERPINA1 | c.562G>A (p.Gly188Ser) c.304G>A (p.Gly102Ser) | dbSNP ExAC gnomAD v2 |
| 14 | g.94382677C>A | CA390849471 | SERPINA1 | c.561G>T (p.Lys187Asn) c.303G>T (p.Lys101Asn) | |
| 14 | g.94382677C>G | CA390849472 | SERPINA1 | c.561G>C (p.Lys187Asn) c.303G>C (p.Lys101Asn) | |
| 14 | g.94382677C>T | CA487622014 | SERPINA1 | c.561G>A (p.Lys187=) c.303G>A (p.Lys101=) | ClinVar |
| 14 | g.94382678T>A | CA390849473 | SERPINA1 | c.560A>T (p.Lys187Met) c.302A>T (p.Lys101Met) | |
| 14 | g.94382678T>C | CA390849474 | SERPINA1 | c.560A>G (p.Lys187Arg) c.302A>G (p.Lys101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382678T>G | CA7327470 | SERPINA1 | c.560A>C (p.Lys187Thr) c.302A>C (p.Lys101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382678T= | CA2155954729 | SERPINA1 | c.560A= (p.Lys187=) c.302A= (p.Lys101=) | |
| 14 | g.94382679T>A | CA390849476 | SERPINA1 | c.559A>T (p.Lys187Ter) c.301A>T (p.Lys101Ter) | gnomAD v4 |
| 14 | g.94382679T>C | CA390849477 | SERPINA1 | c.559A>G (p.Lys187Glu) c.301A>G (p.Lys101Glu) | |
| 14 | g.94382679T>G | CA390849475 | SERPINA1 | c.559A>C (p.Lys187Gln) c.301A>C (p.Lys101Gln) | |
| 14 | g.94382680C>A | CA390849479 | SERPINA1 | c.558G>T (p.Glu186Asp) c.300G>T (p.Glu100Asp) | |
| 14 | g.94382680C>G | CA390849478 | SERPINA1 | c.558G>C (p.Glu186Asp) c.300G>C (p.Glu100Asp) | |
| 14 | g.94382680C>T | CA487622018 | SERPINA1 | c.558G>A (p.Glu186=) c.300G>A (p.Glu100=) | ClinVar |
| 14 | g.94382681del | CA2695199865 | SERPINA1 | c.557del (p.Glu186GlyfsTer24) c.299del (p.Glu100GlyfsTer?) | |
| 14 | g.94382681T>A | CA390849481 | SERPINA1 | c.557A>T (p.Glu186Val) c.299A>T (p.Glu100Val) | gnomAD v4 |
| 14 | g.94382681T>C | CA265864104 | SERPINA1 | c.557A>G (p.Glu186Gly) c.299A>G (p.Glu100Gly) | dbSNP |
| 14 | g.94382681T>G | CA390849480 | SERPINA1 | c.557A>C (p.Glu186Ala) c.299A>C (p.Glu100Ala) | |
| 14 | g.94382681T= | CA2155954730 | SERPINA1 | c.557A= (p.Glu186=) c.299A= (p.Glu100=) | |
| 14 | g.94382682C>A | CA390849482 | SERPINA1 | c.556G>T (p.Glu186Ter) c.298G>T (p.Glu100Ter) | |
| 14 | g.94382682C= | CA2155954731 | SERPINA1 | c.556G= (p.Glu186=) c.298G= (p.Glu100=) | |
| 14 | g.94382682C>G | CA390849483 | SERPINA1 | c.556G>C (p.Glu186Gln) c.298G>C (p.Glu100Gln) | |
| 14 | g.94382682C>T | CA390849484 | SERPINA1 | c.556G>A (p.Glu186Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382683C>A | CA487622019 | SERPINA1 | c.555G>T (p.Val185=) c.297G>T (p.Val99=) | |
| 14 | g.94382683C= | CA2155954732 | SERPINA1 | c.555G= (p.Val185=) c.297G= (p.Val99=) | |
| 14 | g.94382683C>G | CA487622020 | SERPINA1 | c.555G>C (p.Val185=) c.297G>C (p.Val99=) | |
| 14 | g.94382683C>T | CA487622021 | SERPINA1 | c.555G>A (p.Val185=) c.297G>A (p.Val99=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382684A>C | CA390849485 | SERPINA1 | c.554T>G (p.Val185Gly) c.296T>G (p.Val99Gly) | |
| 14 | g.94382684A>G | CA390849486 | SERPINA1 | c.554T>C (p.Val185Ala) c.296T>C (p.Val99Ala) | COSMIC |
| 14 | g.94382684A>T | CA390849487 | SERPINA1 | c.554T>A (p.Val185Glu) c.296T>A (p.Val99Glu) | |
| 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 |