Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382704C>A | CA390849533 | SERPINA1 | c.534G>T (p.Lys178Asn) c.276G>T (p.Lys92Asn) | gnomAD v4 |
14 | g.94382704C= | CA2155954740 | SERPINA1 | c.534G= (p.Lys178=) c.276G= (p.Lys92=) | |
14 | g.94382704C>G | CA390849534 | SERPINA1 | c.534G>C (p.Lys178Asn) c.276G>C (p.Lys92Asn) | |
14 | g.94382704C>T | CA7327476 | SERPINA1 | c.534G>A (p.Lys178=) c.276G>A (p.Lys92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382705T>A | CA390849535 | SERPINA1 | c.533A>T (p.Lys178Met) c.275A>T (p.Lys92Met) | |
14 | g.94382705T>C | CA390849536 | SERPINA1 | c.533A>G (p.Lys178Arg) c.275A>G (p.Lys92Arg) | |
14 | g.94382705T>G | CA390849537 | SERPINA1 | c.533A>C (p.Lys178Thr) c.275A>C (p.Lys92Thr) | |
14 | g.94382706T>A | CA390849538 | SERPINA1 | c.532A>T (p.Lys178Ter) c.274A>T (p.Lys92Ter) | |
14 | g.94382706T>C | CA390849539 | SERPINA1 | c.532A>G (p.Lys178Glu) c.274A>G (p.Lys92Glu) | |
14 | g.94382706T>G | CA390849540 | SERPINA1 | c.532A>C (p.Lys178Gln) c.274A>C (p.Lys92Gln) | |
14 | g.94382707G>A | CA487622027 | SERPINA1 | c.531C>T (p.Ala177=) c.273C>T (p.Ala91=) | |
14 | g.94382707G>C | CA487622028 | SERPINA1 | c.531C>G (p.Ala177=) c.273C>G (p.Ala91=) | |
14 | g.94382707G>T | CA487622029 | SERPINA1 | c.531C>A (p.Ala177=) c.273C>A (p.Ala91=) | |
14 | g.94382708G>A | CA390849541 | SERPINA1 | c.530C>T (p.Ala177Val) c.272C>T (p.Ala91Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382708G>C | CA390849542 | SERPINA1 | c.530C>G (p.Ala177Gly) c.272C>G (p.Ala91Gly) | |
14 | g.94382708G= | CA2155954741 | SERPINA1 | c.530C= (p.Ala177=) c.272C= (p.Ala91=) | |
14 | g.94382708G>T | CA390849543 | SERPINA1 | c.530C>A (p.Ala177Asp) c.272C>A (p.Ala91Asp) | |
14 | g.94382709C>A | CA390849544 | SERPINA1 | c.529G>T (p.Ala177Ser) c.271G>T (p.Ala91Ser) | gnomAD v4 |
14 | g.94382709C>G | CA390849545 | SERPINA1 | c.529G>C (p.Ala177Pro) c.271G>C (p.Ala91Pro) | |
14 | g.94382709C>T | CA390849546 | SERPINA1 | c.529G>A (p.Ala177Thr) c.271G>A (p.Ala91Thr) | dbSNP |
14 | g.94382710C>A | CA390849548 | SERPINA1 | c.528G>T (p.Glu176Asp) c.270G>T (p.Glu90Asp) | gnomAD v4 |
14 | g.94382710C= | CA2155954742 | SERPINA1 | c.528G= (p.Glu176=) c.270G= (p.Glu90=) | |
14 | g.94382710C>G | CA390849547 | SERPINA1 | c.528G>C (p.Glu176Asp) c.270G>C (p.Glu90Asp) | |
14 | g.94382710C>T | CA487622031 | SERPINA1 | c.528G>A (p.Glu176=) c.270G>A (p.Glu90=) | ClinVar dbSNP |
14 | g.94382711T>A | CA390849549 | SERPINA1 | c.527A>T (p.Glu176Val) c.269A>T (p.Glu90Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382711T>C | CA390849550 | SERPINA1 | c.527A>G (p.Glu176Gly) c.269A>G (p.Glu90Gly) | |
14 | g.94382711T>G | CA390849551 | SERPINA1 | c.527A>C (p.Glu176Ala) c.269A>C (p.Glu90Ala) | |
14 | g.94382711T= | CA2155954743 | SERPINA1 | c.527A= (p.Glu176=) c.269A= (p.Glu90=) | |
14 | g.94382712C>A | CA390849552 | SERPINA1 | c.526G>T (p.Glu176Ter) c.268G>T (p.Glu90Ter) | |
14 | g.94382712C>G | CA390849553 | SERPINA1 | c.526G>C (p.Glu176Gln) c.268G>C (p.Glu90Gln) | |
14 | g.94382712C>T | CA390849554 | SERPINA1 | c.526G>A (p.Glu176Lys) c.268G>A (p.Glu90Lys) | |
14 | g.94382713T>A | CA390849555 | SERPINA1 | c.525A>T (p.Glu175Asp) c.267A>T (p.Glu89Asp) | |
14 | g.94382713T>C | CA265864111 | SERPINA1 | c.525A>G (p.Glu175=) c.267A>G (p.Glu89=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382713T>G | CA390849556 | SERPINA1 | c.525A>C (p.Glu175Asp) c.267A>C (p.Glu89Asp) | |
14 | g.94382713T= | CA2155954744 | SERPINA1 | c.525A= (p.Glu175=) c.267A= (p.Glu89=) | |
14 | g.94382714T>A | CA390849557 | SERPINA1 | c.524A>T (p.Glu175Val) c.266A>T (p.Glu89Val) | |
14 | g.94382714T>C | CA390849558 | SERPINA1 | c.524A>G (p.Glu175Gly) c.266A>G (p.Glu89Gly) |