Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382652_94382653delinsT | CA913190708 | SERPINA1 | c.585_586delinsA (p.Asp195GlufsTer15) | ClinVar dbSNP |
14 | g.94382653A>C | CA390849418 | SERPINA1 | c.585T>G (p.Asp195Glu) | |
14 | g.94382653A>G | CA487621963 | SERPINA1 | c.585T>C (p.Asp195=) | |
14 | g.94382653A>T | CA390849417 | SERPINA1 | c.585T>A (p.Asp195Glu) | |
14 | g.94382654T>A | CA390849419 | SERPINA1 | c.584A>T (p.Asp195Val) | |
14 | g.94382654T>C | CA390849421 | SERPINA1 | c.584A>G (p.Asp195Gly) | |
14 | g.94382654T>G | CA390849420 | SERPINA1 | c.584A>C (p.Asp195Ala) | |
14 | g.94382655C>A | CA390849422 | SERPINA1 | c.583G>T (p.Asp195Tyr) | |
14 | g.94382655C>G | CA390849423 | SERPINA1 | c.583G>C (p.Asp195His) | |
14 | g.94382655C>T | CA390849424 | SERPINA1 | c.583G>A (p.Asp195Asn) | |
14 | g.94382656C>A | CA487621965 | SERPINA1 | c.582G>T (p.Val194=) | |
14 | g.94382656C>G | CA487621966 | SERPINA1 | c.582G>C (p.Val194=) |