Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382778del | CA7327489 | SERPINA1 | c.464del (p.Leu155TrpfsTer?) c.206del (p.Leu69TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382776A>C | CA390849832 | SERPINA1 | c.462T>G (p.Phe154Leu) c.204T>G (p.Phe68Leu) | |
14 | g.94382776A>G | CA487841036 | SERPINA1 | c.462T>C (p.Phe154=) c.204T>C (p.Phe68=) | |
14 | g.94382776A>T | CA390849834 | SERPINA1 | c.462T>A (p.Phe154Leu) c.204T>A (p.Phe68Leu) | |
14 | g.94382777A>C | CA390849836 | SERPINA1 | c.461T>G (p.Phe154Cys) c.203T>G (p.Phe68Cys) | |
14 | g.94382777A>G | CA390849838 | SERPINA1 | c.461T>C (p.Phe154Ser) c.203T>C (p.Phe68Ser) | COSMIC |
14 | g.94382777A>T | CA390849839 | SERPINA1 | c.461T>A (p.Phe154Tyr) c.203T>A (p.Phe68Tyr) | |
14 | g.94382778A= | CA2155954771 | SERPINA1 | c.460T= (p.Phe154=) c.202T= (p.Phe68=) | |
14 | g.94382778A>C | CA390849841 | SERPINA1 | c.460T>G (p.Phe154Val) c.202T>G (p.Phe68Val) | |
14 | g.94382778A>G | CA7327491 | SERPINA1 | c.460T>C (p.Phe154Leu) c.202T>C (p.Phe68Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382778A>T | CA390849843 | SERPINA1 | c.460T>A (p.Phe154Ile) c.202T>A (p.Phe68Ile) | |
14 | g.94382779C>A | CA390849845 | SERPINA1 | c.459G>T (p.Lys153Asn) c.201G>T (p.Lys67Asn) | |
14 | g.94382779C>G | CA390849846 | SERPINA1 | c.459G>C (p.Lys153Asn) c.201G>C (p.Lys67Asn) | |
14 | g.94382779C>T | CA487841038 | SERPINA1 | c.459G>A (p.Lys153=) c.201G>A (p.Lys67=) | gnomAD v4 |
14 | g.94382780T>A | CA390849848 | SERPINA1 | c.458A>T (p.Lys153Met) c.200A>T (p.Lys67Met) | |
14 | g.94382780T>C | CA390849849 | SERPINA1 | c.458A>G (p.Lys153Arg) c.200A>G (p.Lys67Arg) | |
14 | g.94382780T>G | CA390849850 | SERPINA1 | c.458A>C (p.Lys153Thr) c.200A>C (p.Lys67Thr) | |
14 | g.94382781T>A | CA390849854 | SERPINA1 | c.457A>T (p.Lys153Ter) c.199A>T (p.Lys67Ter) | gnomAD v4 |
14 | g.94382781T>C | CA7327492 | SERPINA1 | c.457A>G (p.Lys153Glu) c.199A>G (p.Lys67Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382781T>G | CA390849852 | SERPINA1 | c.457A>C (p.Lys153Gln) c.199A>C (p.Lys67Gln) | |
14 | g.94382781T= | CA2155954772 | SERPINA1 | c.457A= (p.Lys153=) c.199A= (p.Lys67=) | |
14 | g.94382782A>C | CA390849857 | SERPINA1 | c.456T>G (p.Asp152Glu) c.198T>G (p.Asp66Glu) | COSMIC |
14 | g.94382782A>G | CA487841040 | SERPINA1 | c.456T>C (p.Asp152=) c.198T>C (p.Asp66=) | |
14 | g.94382782A>T | CA390849855 | SERPINA1 | c.456T>A (p.Asp152Glu) c.198T>A (p.Asp66Glu) | |
14 | g.94382783T>A | CA390849860 | SERPINA1 | c.455A>T (p.Asp152Val) c.197A>T (p.Asp66Val) | |
14 | g.94382783T>C | CA7327493 | SERPINA1 | c.455A>G (p.Asp152Gly) c.197A>G (p.Asp66Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382783T>G | CA390849861 | SERPINA1 | c.455A>C (p.Asp152Ala) c.197A>C (p.Asp66Ala) | |
14 | g.94382783T= | CA2155954773 | SERPINA1 | c.455A= (p.Asp152=) c.197A= (p.Asp66=) | |
14 | g.94382784C>A | CA390849862 | SERPINA1 | c.454G>T (p.Asp152Tyr) c.196G>T (p.Asp66Tyr) | gnomAD v4 |
14 | g.94382784C>G | CA390849863 | SERPINA1 | c.454G>C (p.Asp152His) c.196G>C (p.Asp66His) | |
14 | g.94382784C>T | CA390849865 | SERPINA1 | c.454G>A (p.Asp152Asn) c.196G>A (p.Asp66Asn) | |
14 | g.94382785C>A | CA487841042 | SERPINA1 | c.453G>T (p.Val151=) c.195G>T (p.Val65=) | |
14 | g.94382785C= | CA2155954775 | SERPINA1 | c.453G= (p.Val151=) c.195G= (p.Val65=) | |
14 | g.94382785C>G | CA487841043 | SERPINA1 | c.453G>C (p.Val151=) c.195G>C (p.Val65=) | |
14 | g.94382785C>T | CA487841044 | SERPINA1 | c.453G>A (p.Val151=) c.195G>A (p.Val65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382785_94382788delinsCACT | CA2155954774 | SERPINA1 | c.450_453delinsAGTG (p.Leu150=) c.192_195delinsAGTG (p.Leu64=) | |
14 | g.94382786A>C | CA390849867 | SERPINA1 | c.452T>G (p.Val151Gly) c.194T>G (p.Val65Gly) | |
14 | g.94382786A>G | CA390849868 | SERPINA1 | c.452T>C (p.Val151Ala) c.194T>C (p.Val65Ala) | gnomAD v4 |
14 | g.94382786A>T | CA390849869 | SERPINA1 | c.452T>A (p.Val151Glu) c.194T>A (p.Val65Glu) | |
14 | g.94382787_94382789del | CA616114859 | SERPINA1 | c.450_452del (p.Val151del) c.192_194del (p.Val65del) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382787C>A | CA390849871 | SERPINA1 | c.451G>T (p.Val151Leu) c.193G>T (p.Val65Leu) | |
14 | g.94382787C= | CA2155954776 | SERPINA1 | c.451G= (p.Val151=) c.193G= (p.Val65=) | |
14 | g.94382787C>G | CA7327494 | SERPINA1 | c.451G>C (p.Val151Leu) c.193G>C (p.Val65Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382787C>T | CA390849872 | SERPINA1 | c.451G>A (p.Val151Met) c.193G>A (p.Val65Met) | dbSNP |
14 | g.94382788T>A | CA487841045 | SERPINA1 | c.450A>T (p.Leu150=) c.192A>T (p.Leu64=) | |
14 | g.94382788T>C | CA7327495 | SERPINA1 | c.450A>G (p.Leu150=) c.192A>G (p.Leu64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382788T>G | CA487841046 | SERPINA1 | c.450A>C (p.Leu150=) c.192A>C (p.Leu64=) | |
14 | g.94382788T= | CA2155954777 | SERPINA1 | c.450A= (p.Leu150=) c.192A= (p.Leu64=) | |
14 | g.94382789A= | CA2155954778 | SERPINA1 | c.449T= (p.Leu150=) c.191T= (p.Leu64=) | |
14 | g.94382789A>C | CA390849876 | SERPINA1 | c.449T>G (p.Leu150Arg) c.191T>G (p.Leu64Arg) |