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