Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382789A>G | CA390849877 | SERPINA1 | c.449T>C (p.Leu150Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382789A>T | CA390849879 | SERPINA1 | c.449T>A (p.Leu150Gln) c.191T>A (p.Leu64Gln) | |
14 | g.94382790G>A | CA487841047 | SERPINA1 | c.448C>T (p.Leu150=) c.190C>T (p.Leu64=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382790G>C | CA390849880 | SERPINA1 | c.448C>G (p.Leu150Val) c.190C>G (p.Leu64Val) | |
14 | g.94382790G= | CA2155954779 | SERPINA1 | c.448C= (p.Leu150=) c.190C= (p.Leu64=) | |
14 | g.94382790G>T | CA390849881 | SERPINA1 | c.448C>A (p.Leu150Ile) c.190C>A (p.Leu64Ile) | |
14 | g.94382791C>A | CA390849883 | SERPINA1 | c.447G>T (p.Lys149Asn) c.189G>T (p.Lys63Asn) | |
14 | g.94382791C= | CA2155954780 | SERPINA1 | c.447G= (p.Lys149=) c.189G= (p.Lys63=) | |
14 | g.94382791C>G | CA390849884 | SERPINA1 | c.447G>C (p.Lys149Asn) c.189G>C (p.Lys63Asn) | |
14 | g.94382791C>T | CA7327496 | SERPINA1 | c.447G>A (p.Lys149=) c.189G>A (p.Lys63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382792T>A | CA390849885 | SERPINA1 | c.446A>T (p.Lys149Met) c.188A>T (p.Lys63Met) | |
14 | g.94382792T>C | CA390849887 | SERPINA1 | c.446A>G (p.Lys149Arg) c.188A>G (p.Lys63Arg) | |
14 | g.94382792T>G | CA390849889 | SERPINA1 | c.446A>C (p.Lys149Thr) c.188A>C (p.Lys63Thr) | |
14 | g.94382793T>A | CA390849891 | SERPINA1 | c.445A>T (p.Lys149Ter) c.187A>T (p.Lys63Ter) | |
14 | g.94382793T>C | CA390849892 | SERPINA1 | c.445A>G (p.Lys149Glu) c.187A>G (p.Lys63Glu) | |
14 | g.94382793T>G | CA390849894 | SERPINA1 | c.445A>C (p.Lys149Gln) c.187A>C (p.Lys63Gln) | |
14 | g.94382794C>A | CA487841049 | SERPINA1 | c.444G>T (p.Leu148=) c.186G>T (p.Leu62=) | |
14 | g.94382794C>G | CA487841051 | SERPINA1 | c.444G>C (p.Leu148=) c.186G>C (p.Leu62=) | |
14 | g.94382794C>T | CA487841052 | SERPINA1 | c.444G>A (p.Leu148=) c.186G>A (p.Leu62=) | gnomAD v4 COSMIC |
14 | g.94382795A>C | CA390849895 | SERPINA1 | c.443T>G (p.Leu148Arg) c.185T>G (p.Leu62Arg) | |
14 | g.94382795A>G | CA390849897 | SERPINA1 | c.443T>C (p.Leu148Pro) c.185T>C (p.Leu62Pro) | |
14 | g.94382795A>T | CA390849899 | SERPINA1 | c.443T>A (p.Leu148Gln) c.185T>A (p.Leu62Gln) | |
14 | g.94382796G>A | CA487841053 | SERPINA1 | c.442C>T (p.Leu148=) c.184C>T (p.Leu62=) | |
14 | g.94382796G>C | CA390849900 | SERPINA1 | c.442C>G (p.Leu148Val) c.184C>G (p.Leu62Val) | |
14 | g.94382796G>T | CA390849902 | SERPINA1 | c.442C>A (p.Leu148Met) c.184C>A (p.Leu62Met) | |
14 | g.94382797G>A | CA487841057 | SERPINA1 | c.441C>T (p.Gly147=) c.183C>T (p.Gly61=) | |
14 | g.94382797G>C | CA487841056 | SERPINA1 | c.441C>G (p.Gly147=) c.183C>G (p.Gly61=) | ClinVar |
14 | g.94382797G>T | CA487841055 | SERPINA1 | c.441C>A (p.Gly147=) c.183C>A (p.Gly61=) | |
14 | g.94382798C>A | CA390849904 | SERPINA1 | c.440G>T (p.Gly147Val) c.182G>T (p.Gly61Val) | gnomAD v4 |
14 | g.94382798C>G | CA390849905 | SERPINA1 | c.440G>C (p.Gly147Ala) c.182G>C (p.Gly61Ala) | |
14 | g.94382798C>T | CA390849906 | SERPINA1 | c.440G>A (p.Gly147Asp) c.182G>A (p.Gly61Asp) | |
14 | g.94382799C>A | CA390849907 | SERPINA1 | c.439G>T (p.Gly147Cys) c.181G>T (p.Gly61Cys) | |
14 | g.94382799C>G | CA390849909 | SERPINA1 | c.439G>C (p.Gly147Arg) c.181G>C (p.Gly61Arg) | |
14 | g.94382799C>T | CA390849911 | SERPINA1 | c.439G>A (p.Gly147Ser) c.181G>A (p.Gly61Ser) | |
14 | g.94382800C>A | CA390849912 | SERPINA1 | c.438G>T (p.Glu146Asp) c.180G>T (p.Glu60Asp) | |
14 | g.94382800C>G | CA390849914 | SERPINA1 | c.438G>C (p.Glu146Asp) c.180G>C (p.Glu60Asp) | |
14 | g.94382800C>T | CA487841058 | SERPINA1 | c.438G>A (p.Glu146=) c.180G>A (p.Glu60=) | |
14 | g.94382801T>A | CA390849916 | SERPINA1 | c.437A>T (p.Glu146Val) c.179A>T (p.Glu60Val) | |
14 | g.94382801T>C | CA390849917 | SERPINA1 | c.437A>G (p.Glu146Gly) c.179A>G (p.Glu60Gly) | |
14 | g.94382801T>G | CA390849919 | SERPINA1 | c.437A>C (p.Glu146Ala) c.179A>C (p.Glu60Ala) | |
14 | g.94382802C>A | CA390849921 | SERPINA1 | c.436G>T (p.Glu146Ter) c.178G>T (p.Glu60Ter) | |
14 | g.94382802C= | CA2155954781 | SERPINA1 | c.436G= (p.Glu146=) c.178G= (p.Glu60=) | |
14 | g.94382802C>G | CA390849922 | SERPINA1 | c.436G>C (p.Glu146Gln) c.178G>C (p.Glu60Gln) | |
14 | g.94382802C>T | CA7327497 | SERPINA1 | c.436G>A (p.Glu146Lys) c.178G>A (p.Glu60Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382803G>A | CA265864133 | SERPINA1 | c.435C>T (p.Ser145=) c.177C>T (p.Ser59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382803G>C | CA390849925 | SERPINA1 | c.435C>G (p.Ser145Arg) c.177C>G (p.Ser59Arg) | |
14 | g.94382803G= | CA2155954782 | SERPINA1 | c.435C= (p.Ser145=) c.177C= (p.Ser59=) | |
14 | g.94382803G>T | CA265864131 | SERPINA1 | c.435C>A (p.Ser145Arg) c.177C>A (p.Ser59Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382804C>A | CA390849927 | SERPINA1 | c.434G>T (p.Ser145Ile) c.176G>T (p.Ser59Ile) c.434G>T | |
14 | g.94382804C= | CA2155954783 | SERPINA1 | c.434G= (p.Ser145=) c.176G= (p.Ser59=) c.434G= | |
14 | g.94382804C>G | CA390849928 | SERPINA1 | c.434G>C (p.Ser145Thr) c.176G>C (p.Ser59Thr) c.434G>C | |
14 | g.94382804C>T | CA390849930 | SERPINA1 | c.434G>A (p.Ser145Asn) c.176G>A (p.Ser59Asn) c.434G>A | dbSNP gnomAD v4 |
14 | g.94382805T>A | CA390849931 | SERPINA1 | c.433A>T (p.Ser145Cys) c.175A>T (p.Ser59Cys) c.433A>T | |
14 | g.94382805T>C | CA390849933 | SERPINA1 | c.433A>G (p.Ser145Gly) c.175A>G (p.Ser59Gly) c.433A>G | |
14 | g.94382805T>G | CA390849934 | SERPINA1 | c.433A>C (p.Ser145Arg) c.175A>C (p.Ser59Arg) c.433A>C | |
14 | g.94382806G>A | CA487841061 | SERPINA1 | c.432C>T (p.Leu144=) c.174C>T (p.Leu58=) | |
14 | g.94382806G>C | CA487841062 | SERPINA1 | c.432C>G (p.Leu144=) c.174C>G (p.Leu58=) | |
14 | g.94382806G>T | CA487841063 | SERPINA1 | c.432C>A (p.Leu144=) c.174C>A (p.Leu58=) | |
14 | g.94382807A>C | CA390849936 | SERPINA1 | c.431T>G (p.Leu144Arg) c.173T>G (p.Leu58Arg) | |
14 | g.94382807A>G | CA390849938 | SERPINA1 | c.431T>C (p.Leu144Pro) c.173T>C (p.Leu58Pro) | |
14 | g.94382807A>T | CA390849940 | SERPINA1 | c.431T>A (p.Leu144His) c.173T>A (p.Leu58His) | |
14 | g.94382808G>A | CA7327498 | SERPINA1 | c.430C>T (p.Leu144Phe) c.172C>T (p.Leu58Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382808G>C | CA390849942 | SERPINA1 | c.430C>G (p.Leu144Val) c.172C>G (p.Leu58Val) | |
14 | g.94382808G= | CA2155954784 | SERPINA1 | c.430C= (p.Leu144=) c.172C= (p.Leu58=) | |
14 | g.94382808G>T | CA390849944 | SERPINA1 | c.430C>A (p.Leu144Ile) c.172C>A (p.Leu58Ile) | |
14 | g.94382809G>A | CA487841068 | SERPINA1 | c.429C>T (p.Phe143=) c.171C>T (p.Phe57=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382809G>C | CA7327499 | SERPINA1 | c.429C>G (p.Phe143Leu) c.171C>G (p.Phe57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382809G= | CA2155954785 | SERPINA1 | c.429C= (p.Phe143=) c.171C= (p.Phe57=) | |
14 | g.94382809G>T | CA390849945 | SERPINA1 | c.429C>A (p.Phe143Leu) c.171C>A (p.Phe57Leu) | |
14 | g.94382810A= | CA2155954786 | SERPINA1 | c.428T= (p.Phe143=) c.170T= (p.Phe57=) | |
14 | g.94382810A>C | CA390849948 | SERPINA1 | c.428T>G (p.Phe143Cys) c.170T>G (p.Phe57Cys) | |
14 | g.94382810A>G | CA390849951 | SERPINA1 | c.428T>C (p.Phe143Ser) c.170T>C (p.Phe57Ser) | gnomAD v4 |
14 | g.94382810A>T | CA390849949 | SERPINA1 | c.428T>A (p.Phe143Tyr) c.170T>A (p.Phe57Tyr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382811A>C | CA390849953 | SERPINA1 | c.427T>G (p.Phe143Val) c.169T>G (p.Phe57Val) | |
14 | g.94382811A>G | CA390849954 | SERPINA1 | c.427T>C (p.Phe143Leu) c.169T>C (p.Phe57Leu) | |
14 | g.94382811A>T | CA390849956 | SERPINA1 | c.427T>A (p.Phe143Ile) c.169T>A (p.Phe57Ile) | |
14 | g.94382812C>A | CA487841070 | SERPINA1 | c.426G>T (p.Leu142=) c.168G>T (p.Leu56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382812C= | CA2155954787 | SERPINA1 | c.426G= (p.Leu142=) c.168G= (p.Leu56=) | |
14 | g.94382812C>G | CA487841071 | SERPINA1 | c.426G>C (p.Leu142=) c.168G>C (p.Leu56=) | |
14 | g.94382812C>T | CA7327500 | SERPINA1 | c.426G>A (p.Leu142=) c.168G>A (p.Leu56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382813A>C | CA390849958 | SERPINA1 | c.425T>G (p.Leu142Arg) c.167T>G (p.Leu56Arg) | |
14 | g.94382813A>G | CA390849960 | SERPINA1 | c.425T>C (p.Leu142Pro) c.167T>C (p.Leu56Pro) | |
14 | g.94382813A>T | CA390849962 | SERPINA1 | c.425T>A (p.Leu142Gln) c.167T>A (p.Leu56Gln) | gnomAD v4 |
14 | g.94382814G>A | CA183072 | SERPINA1 | c.424C>T (p.Leu142=) c.166C>T (p.Leu56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382814G>C | CA390849964 | SERPINA1 | c.424C>G (p.Leu142Val) c.166C>G (p.Leu56Val) | |
14 | g.94382814G= | CA2155954788 | SERPINA1 | c.424C= (p.Leu142=) c.166C= (p.Leu56=) | |
14 | g.94382814G>T | CA390849965 | SERPINA1 | c.424C>A (p.Leu142Met) c.166C>A (p.Leu56Met) | |
14 | g.94382815G>A | CA7327501 | SERPINA1 | c.423C>T (p.Gly141=) c.165C>T (p.Gly55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382815G>C | CA487841073 | SERPINA1 | c.423C>G (p.Gly141=) c.165C>G (p.Gly55=) | |
14 | g.94382815G= | CA2155954789 | SERPINA1 | c.423C= (p.Gly141=) c.165C= (p.Gly55=) | |
14 | g.94382815G>T | CA487841074 | SERPINA1 | c.423C>A (p.Gly141=) c.165C>A (p.Gly55=) | ClinVar |
14 | g.94382816C>A | CA390849970 | SERPINA1 | c.422G>T (p.Gly141Val) c.164G>T (p.Gly55Val) | gnomAD v4 |
14 | g.94382816C>G | CA390849969 | SERPINA1 | c.422G>C (p.Gly141Ala) c.164G>C (p.Gly55Ala) | |
14 | g.94382816C>T | CA390849968 | SERPINA1 | c.422G>A (p.Gly141Asp) c.164G>A (p.Gly55Asp) | |
14 | g.94382817C>A | CA390849972 | SERPINA1 | c.421G>T (p.Gly141Cys) c.163G>T (p.Gly55Cys) | |
14 | g.94382817C>G | CA390849973 | SERPINA1 | c.421G>C (p.Gly141Arg) c.163G>C (p.Gly55Arg) | |
14 | g.94382817C>T | CA390849975 | SERPINA1 | c.421G>A (p.Gly141Ser) c.163G>A (p.Gly55Ser) | |
14 | g.94382818A= | CA2155954790 | SERPINA1 | c.420T= (p.Asn140=) c.162T= (p.Asn54=) | |
14 | g.94382818A>C | CA390849977 | SERPINA1 | c.420T>G (p.Asn140Lys) c.162T>G (p.Asn54Lys) | |
14 | g.94382818A>G | CA265864136 | SERPINA1 | c.420T>C (p.Asn140=) c.162T>C (p.Asn54=) | dbSNP |
14 | g.94382818A>T | CA390849979 | SERPINA1 | c.420T>A (p.Asn140Lys) c.162T>A (p.Asn54Lys) | |
14 | g.94382819T>A | CA390849980 | SERPINA1 | c.419A>T (p.Asn140Ile) c.161A>T (p.Asn54Ile) | |
14 | g.94382819T>C | CA390849982 | SERPINA1 | c.419A>G (p.Asn140Ser) c.161A>G (p.Asn54Ser) | |
14 | g.94382819T>G | CA390849983 | SERPINA1 | c.419A>C (p.Asn140Thr) c.161A>C (p.Asn54Thr) | |
14 | g.94382820T>A | CA390849985 | SERPINA1 | c.418A>T (p.Asn140Tyr) c.160A>T (p.Asn54Tyr) | |
14 | g.94382820T>C | CA390849987 | SERPINA1 | c.418A>G (p.Asn140Asp) c.160A>G (p.Asn54Asp) | |
14 | g.94382820T>G | CA390849988 | SERPINA1 | c.418A>C (p.Asn140His) c.160A>C (p.Asn54His) | |
14 | g.94382821G>A | CA265864138 | SERPINA1 | c.417C>T (p.Gly139=) c.159C>T (p.Gly53=) | dbSNP |
14 | g.94382821G>C | CA487841075 | SERPINA1 | c.417C>G (p.Gly139=) c.159C>G (p.Gly53=) | |
14 | g.94382821G= | CA2155954791 | SERPINA1 | c.417C= (p.Gly139=) c.159C= (p.Gly53=) | |
14 | g.94382821G>T | CA487841077 | SERPINA1 | c.417C>A (p.Gly139=) c.159C>A (p.Gly53=) | |
14 | g.94382822C>A | CA390849992 | SERPINA1 | c.416G>T (p.Gly139Val) c.158G>T (p.Gly53Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382822C= | CA2155954792 | SERPINA1 | c.416G= (p.Gly139=) c.158G= (p.Gly53=) | |
14 | g.94382822C>G | CA7327502 | SERPINA1 | c.416G>C (p.Gly139Ala) c.158G>C (p.Gly53Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382822C>T | CA390849989 | SERPINA1 | c.416G>A (p.Gly139Asp) c.158G>A (p.Gly53Asp) | dbSNP gnomAD v4 |
14 | g.94382823C>A | CA390849993 | SERPINA1 | c.415G>T (p.Gly139Cys) c.157G>T (p.Gly53Cys) | ClinVar |
14 | g.94382823C= | CA2155954793 | SERPINA1 | c.415G= (p.Gly139=) c.157G= (p.Gly53=) | |
14 | g.94382823C>G | CA390849995 | SERPINA1 | c.415G>C (p.Gly139Arg) c.157G>C (p.Gly53Arg) | |
14 | g.94382823C>T | CA127734 | SERPINA1 | c.415G>A (p.Gly139Ser) c.157G>A (p.Gly53Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382824G>A | CA7327503 | SERPINA1 | c.414C>T (p.Thr138=) c.156C>T (p.Thr52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382824G>C | CA487841081 | SERPINA1 | c.414C>G (p.Thr138=) c.156C>G (p.Thr52=) | |
14 | g.94382824G= | CA2155954794 | SERPINA1 | c.414C= (p.Thr138=) c.156C= (p.Thr52=) | |
14 | g.94382824G>T | CA487841083 | SERPINA1 | c.414C>A (p.Thr138=) c.156C>A (p.Thr52=) | |
14 | g.94382825G>A | CA390849998 | SERPINA1 | c.413C>T (p.Thr138Ile) c.155C>T (p.Thr52Ile) | |
14 | g.94382825G>C | CA390850000 | SERPINA1 | c.413C>G (p.Thr138Ser) c.155C>G (p.Thr52Ser) | |
14 | g.94382825G>T | CA390850001 | SERPINA1 | c.413C>A (p.Thr138Asn) c.155C>A (p.Thr52Asn) | |
14 | g.94382826T>A | CA390850003 | SERPINA1 | c.412A>T (p.Thr138Ser) c.154A>T (p.Thr52Ser) | |
14 | g.94382826T>C | CA390850005 | SERPINA1 | c.412A>G (p.Thr138Ala) c.154A>G (p.Thr52Ala) | |
14 | g.94382826T>G | CA390850006 | SERPINA1 | c.412A>C (p.Thr138Pro) c.154A>C (p.Thr52Pro) | |
14 | g.94382827G>A | CA487841085 | SERPINA1 | c.411C>T (p.Thr137=) c.153C>T (p.Thr51=) | |
14 | g.94382827G>C | CA487841086 | SERPINA1 | c.411C>G (p.Thr137=) c.153C>G (p.Thr51=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382827G= | CA2155954795 | SERPINA1 | c.411C= (p.Thr137=) c.153C= (p.Thr51=) | |
14 | g.94382827G>T | CA487841087 | SERPINA1 | c.411C>A (p.Thr137=) c.153C>A (p.Thr51=) | gnomAD v4 |
14 | g.94382828G>A | CA390850008 | SERPINA1 | c.410C>T (p.Thr137Ile) c.152C>T (p.Thr51Ile) | |
14 | g.94382828G>C | CA7327504 | SERPINA1 | c.410C>G (p.Thr137Ser) c.152C>G (p.Thr51Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382828G= | CA2155954796 | SERPINA1 | c.410C= (p.Thr137=) c.152C= (p.Thr51=) | |
14 | g.94382828G>T | CA390850010 | SERPINA1 | c.410C>A (p.Thr137Asn) c.152C>A (p.Thr51Asn) | |
14 | g.94382829T>A | CA390850014 | SERPINA1 | c.409A>T (p.Thr137Ser) c.151A>T (p.Thr51Ser) | |
14 | g.94382829T>C | CA390850012 | SERPINA1 | c.409A>G (p.Thr137Ala) c.151A>G (p.Thr51Ala) | |
14 | g.94382829T>G | CA390850013 | SERPINA1 | c.409A>C (p.Thr137Pro) c.151A>C (p.Thr51Pro) | |
14 | g.94382830C>A | CA487841089 | SERPINA1 | c.408G>T (p.Leu136=) c.150G>T (p.Leu50=) | |
14 | g.94382830C>G | CA487841093 | SERPINA1 | c.408G>C (p.Leu136=) c.150G>C (p.Leu50=) | |
14 | g.94382830C>T | CA487841091 | SERPINA1 | c.408G>A (p.Leu136=) c.150G>A (p.Leu50=) | |
14 | g.94382831A= | CA2155954797 | SERPINA1 | c.407T= (p.Leu136=) c.149T= (p.Leu50=) | |
14 | g.94382831A>C | CA390850015 | SERPINA1 | c.407T>G (p.Leu136Arg) c.149T>G (p.Leu50Arg) | dbSNP |
14 | g.94382831A>G | CA390850016 | SERPINA1 | c.407T>C (p.Leu136Pro) c.149T>C (p.Leu50Pro) | gnomAD v4 |
14 | g.94382831A>T | CA390850017 | SERPINA1 | c.407T>A (p.Leu136Gln) c.149T>A (p.Leu50Gln) | |
14 | g.94382832G>A | CA487841095 | SERPINA1 | c.406C>T (p.Leu136=) c.148C>T (p.Leu50=) | |
14 | g.94382832G>C | CA390850018 | SERPINA1 | c.406C>G (p.Leu136Val) c.148C>G (p.Leu50Val) | |
14 | g.94382832G>T | CA390850019 | SERPINA1 | c.406C>A (p.Leu136Met) c.148C>A (p.Leu50Met) | |
14 | g.94382833C>A | CA390850020 | SERPINA1 | c.405G>T (p.Gln135His) c.147G>T (p.Gln49His) | dbSNP |
14 | g.94382833C= | CA2155954798 | SERPINA1 | c.405G= (p.Gln135=) c.147G= (p.Gln49=) | |
14 | g.94382833C>G | CA390850022 | SERPINA1 | c.405G>C (p.Gln135His) c.147G>C (p.Gln49His) | |
14 | g.94382833C>T | CA487841096 | SERPINA1 | c.405G>A (p.Gln135=) c.147G>A (p.Gln49=) | |
14 | g.94382834T>A | CA390850024 | SERPINA1 | c.404A>T (p.Gln135Leu) c.146A>T (p.Gln49Leu) | |
14 | g.94382834T>C | CA390850026 | SERPINA1 | c.404A>G (p.Gln135Arg) c.146A>G (p.Gln49Arg) | |
14 | g.94382834T>G | CA390850027 | SERPINA1 | c.404A>C (p.Gln135Pro) c.146A>C (p.Gln49Pro) | |
14 | g.94382835G>A | CA390850029 | SERPINA1 | c.403C>T (p.Gln135Ter) c.145C>T (p.Gln49Ter) | ClinVar |
14 | g.94382835G>C | CA390850031 | SERPINA1 | c.403C>G (p.Gln135Glu) c.145C>G (p.Gln49Glu) | |
14 | g.94382835G>T | CA390850033 | SERPINA1 | c.403C>A (p.Gln135Lys) c.145C>A (p.Gln49Lys) | |
14 | g.94382836G>A | CA487841099 | SERPINA1 | c.402C>T (p.Leu134=) c.144C>T (p.Leu48=) | |
14 | g.94382836G>C | CA487841100 | SERPINA1 | c.402C>G (p.Leu134=) c.144C>G (p.Leu48=) | dbSNP gnomAD v4 |
14 | g.94382836G= | CA2155954799 | SERPINA1 | c.402C= (p.Leu134=) c.144C= (p.Leu48=) | |
14 | g.94382836G>T | CA487841101 | SERPINA1 | c.402C>A (p.Leu134=) c.144C>A (p.Leu48=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382837A= | CA2155954800 | SERPINA1 | c.401T= (p.Leu134=) c.143T= (p.Leu48=) | |
14 | g.94382837A>C | CA390850036 | SERPINA1 | c.401T>G (p.Leu134Arg) c.143T>G (p.Leu48Arg) | |
14 | g.94382837A>G | CA7327505 | SERPINA1 | c.401T>C (p.Leu134Pro) c.143T>C (p.Leu48Pro) | dbSNP ExAC |
14 | g.94382837A>T | CA390850035 | SERPINA1 | c.401T>A (p.Leu134His) c.143T>A (p.Leu48His) | |
14 | g.94382838G>A | CA390850037 | SERPINA1 | c.400C>T (p.Leu134Phe) c.142C>T (p.Leu48Phe) | |
14 | g.94382838G>C | CA390850040 | SERPINA1 | c.400C>G (p.Leu134Val) c.142C>G (p.Leu48Val) | |
14 | g.94382838G= | CA2155954802 | SERPINA1 | c.400C= (p.Leu134=) c.142C= (p.Leu48=) | |
14 | g.94382838G>T | CA390850039 | SERPINA1 | c.400C>A (p.Leu134Ile) c.142C>A (p.Leu48Ile) | dbSNP |
14 | g.94382838_94382839delinsGC | CA2155954801 | SERPINA1 | c.399_400delinsGC (p.Gln133=) c.141_142delinsGC (p.Gln47=) | |
14 | g.94382839del | CA616114864 | SERPINA1 | c.399del (p.Gln133HisfsTer4) c.141del (p.Gln47HisfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382839C>A | CA390850042 | SERPINA1 | c.399G>T (p.Gln133His) c.141G>T (p.Gln47His) | |
14 | g.94382839C= | CA2155954803 | SERPINA1 | c.399G= (p.Gln133=) c.141G= (p.Gln47=) | |
14 | g.94382839C>G | CA390850044 | SERPINA1 | c.399G>C (p.Gln133His) c.141G>C (p.Gln47His) | |
14 | g.94382839C>T | CA487841105 | SERPINA1 | c.399G>A (p.Gln133=) c.141G>A (p.Gln47=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382840T>A | CA390850045 | SERPINA1 | c.398A>T (p.Gln133Leu) c.140A>T (p.Gln47Leu) | |
14 | g.94382840T>C | CA390850047 | SERPINA1 | c.398A>G (p.Gln133Arg) c.140A>G (p.Gln47Arg) | |
14 | g.94382840T>G | CA390850048 | SERPINA1 | c.398A>C (p.Gln133Pro) c.140A>C (p.Gln47Pro) | |
14 | g.94382841G>A | CA390850050 | SERPINA1 | c.397C>T (p.Gln133Ter) c.139C>T (p.Gln47Ter) | |
14 | g.94382841G>C | CA390850052 | SERPINA1 | c.397C>G (p.Gln133Glu) c.139C>G (p.Gln47Glu) | |
14 | g.94382841G>T | CA390850053 | SERPINA1 | c.397C>A (p.Gln133Lys) c.139C>A (p.Gln47Lys) | |
14 | g.94382842G>A | CA487841108 | SERPINA1 | c.396C>T (p.Ser132=) c.138C>T (p.Ser46=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382842G>C | CA390850055 | SERPINA1 | c.396C>G (p.Ser132Arg) c.138C>G (p.Ser46Arg) | gnomAD v4 |
14 | g.94382842G= | CA2155954804 | SERPINA1 | c.396C= (p.Ser132=) c.138C= (p.Ser46=) | |
14 | g.94382842G>T | CA390850056 | SERPINA1 | c.396C>A (p.Ser132Arg) c.138C>A (p.Ser46Arg) | gnomAD v4 |
14 | g.94382843C>A | CA390850058 | SERPINA1 | c.395G>T (p.Ser132Ile) c.137G>T (p.Ser46Ile) | |
14 | g.94382843C= | CA2155954805 | SERPINA1 | c.395G= (p.Ser132=) c.137G= (p.Ser46=) | |
14 | g.94382843C>G | CA390850059 | SERPINA1 | c.395G>C (p.Ser132Thr) c.137G>C (p.Ser46Thr) | |
14 | g.94382843C>T | CA390850061 | SERPINA1 | c.395G>A (p.Ser132Asn) c.137G>A (p.Ser46Asn) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382844T>A | CA390850063 | SERPINA1 | c.394A>T (p.Ser132Cys) c.136A>T (p.Ser46Cys) | |
14 | g.94382844T>C | CA390850066 | SERPINA1 | c.394A>G (p.Ser132Gly) c.136A>G (p.Ser46Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382844T>G | CA390850065 | SERPINA1 | c.394A>C (p.Ser132Arg) c.136A>C (p.Ser46Arg) | |
14 | g.94382844T= | CA2155954806 | SERPINA1 | c.394A= (p.Ser132=) c.136A= (p.Ser46=) | |
14 | g.94382845G>A | CA487841110 | SERPINA1 | c.393C>T (p.Asp131=) c.135C>T (p.Asp45=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382845G>C | CA390850068 | SERPINA1 | c.393C>G (p.Asp131Glu) c.135C>G (p.Asp45Glu) | |
14 | g.94382845G>T | CA390850070 | SERPINA1 | c.393C>A (p.Asp131Glu) c.135C>A (p.Asp45Glu) | |
14 | g.94382846T>A | CA390850072 | SERPINA1 | c.392A>T (p.Asp131Val) c.134A>T (p.Asp45Val) | |
14 | g.94382846T>C | CA390850073 | SERPINA1 | c.392A>G (p.Asp131Gly) c.134A>G (p.Asp45Gly) | gnomAD v4 |
14 | g.94382846T>G | CA7327506 | SERPINA1 | c.392A>C (p.Asp131Ala) c.134A>C (p.Asp45Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382846T= | CA2155954807 | SERPINA1 | c.392A= (p.Asp131=) c.134A= (p.Asp45=) | |
14 | g.94382847C>A | CA390850075 | SERPINA1 | c.391G>T (p.Asp131Tyr) c.133G>T (p.Asp45Tyr) | |
14 | g.94382847C>G | CA390850077 | SERPINA1 | c.391G>C (p.Asp131His) c.133G>C (p.Asp45His) | |
14 | g.94382847C>T | CA390850079 | SERPINA1 | c.391G>A (p.Asp131Asn) c.133G>A (p.Asp45Asn) | |
14 | g.94382848T>A | CA487841112 | SERPINA1 | c.390A>T (p.Pro130=) c.132A>T (p.Pro44=) | |
14 | g.94382848T>C | CA487841113 | SERPINA1 | c.390A>G (p.Pro130=) c.132A>G (p.Pro44=) | |
14 | g.94382848T>G | CA487841114 | SERPINA1 | c.390A>C (p.Pro130=) c.132A>C (p.Pro44=) | |
14 | g.94382849G>A | CA390850080 | SERPINA1 | c.389C>T (p.Pro130Leu) c.131C>T (p.Pro44Leu) | COSMIC |
14 | g.94382849G>C | CA390850081 | SERPINA1 | c.389C>G (p.Pro130Arg) c.131C>G (p.Pro44Arg) | gnomAD v4 |
14 | g.94382849G>T | CA390850083 | SERPINA1 | c.389C>A (p.Pro130Gln) c.131C>A (p.Pro44Gln) | |
14 | g.94382850G>A | CA390850088 | SERPINA1 | c.388C>T (p.Pro130Ser) c.130C>T (p.Pro44Ser) | |
14 | g.94382850G>C | CA390850087 | SERPINA1 | c.388C>G (p.Pro130Ala) c.130C>G (p.Pro44Ala) | |
14 | g.94382850G>T | CA390850085 | SERPINA1 | c.388C>A (p.Pro130Thr) c.130C>A (p.Pro44Thr) | gnomAD v4 |
14 | g.94382851C>A | CA390850092 | SERPINA1 | c.387G>T (p.Gln129His) c.129G>T (p.Gln43His) | |
14 | g.94382851C= | CA2155954808 | SERPINA1 | c.387G= (p.Gln129=) c.129G= (p.Gln43=) | |
14 | g.94382851C>G | CA390850090 | SERPINA1 | c.387G>C (p.Gln129His) c.129G>C (p.Gln43His) | gnomAD v4 |
14 | g.94382851C>T | CA487841117 | SERPINA1 | c.387G>A (p.Gln129=) c.129G>A (p.Gln43=) | dbSNP gnomAD v2 |
14 | g.94382852T>A | CA390850093 | SERPINA1 | c.386A>T (p.Gln129Leu) c.128A>T (p.Gln43Leu) | |
14 | g.94382852T>C | CA390850095 | SERPINA1 | c.386A>G (p.Gln129Arg) c.128A>G (p.Gln43Arg) | dbSNP gnomAD v4 |
14 | g.94382852T>G | CA390850096 | SERPINA1 | c.386A>C (p.Gln129Pro) c.128A>C (p.Gln43Pro) | |
14 | g.94382852T= | CA2155954809 | SERPINA1 | c.386A= (p.Gln129=) c.128A= (p.Gln43=) | |
14 | g.94382853G>A | CA390850099 | SERPINA1 | c.385C>T (p.Gln129Ter) c.127C>T (p.Gln43Ter) | |
14 | g.94382853G>C | CA390850100 | SERPINA1 | c.385C>G (p.Gln129Glu) c.127C>G (p.Gln43Glu) | |
14 | g.94382853G= | CA2155954810 | SERPINA1 | c.385C= (p.Gln129=) c.127C= (p.Gln43=) | |
14 | g.94382853G>T | CA265864143 | SERPINA1 | c.385C>A (p.Gln129Lys) c.127C>A (p.Gln43Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382854G>A | CA487841119 | SERPINA1 | c.384C>T (p.Asn128=) c.126C>T (p.Asn42=) | gnomAD v4 |
14 | g.94382854G>C | CA390850102 | SERPINA1 | c.384C>G (p.Asn128Lys) c.126C>G (p.Asn42Lys) | |
14 | g.94382854G>T | CA390850103 | SERPINA1 | c.384C>A (p.Asn128Lys) c.126C>A (p.Asn42Lys) | |
14 | g.94382855T>A | CA390850105 | SERPINA1 | c.383A>T (p.Asn128Ile) c.125A>T (p.Asn42Ile) | gnomAD v4 |
14 | g.94382855T>C | CA390850107 | SERPINA1 | c.383A>G (p.Asn128Ser) c.125A>G (p.Asn42Ser) | gnomAD v4 |
14 | g.94382855T>G | CA390850108 | SERPINA1 | c.383A>C (p.Asn128Thr) c.125A>C (p.Asn42Thr) | |
14 | g.94382856T>A | CA390850110 | SERPINA1 | c.382A>T (p.Asn128Tyr) c.124A>T (p.Asn42Tyr) | |
14 | g.94382856T>C | CA390850112 | SERPINA1 | c.382A>G (p.Asn128Asp) c.124A>G (p.Asn42Asp) | |
14 | g.94382856T>G | CA390850109 | SERPINA1 | c.382A>C (p.Asn128His) c.124A>C (p.Asn42His) | |
14 | g.94382857G>A | CA7327507 | SERPINA1 | c.381C>T (p.Leu127=) c.123C>T (p.Leu41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382857G>C | CA487841122 | SERPINA1 | c.381C>G (p.Leu127=) c.123C>G (p.Leu41=) | |
14 | g.94382857G= | CA2155954811 | SERPINA1 | c.381C= (p.Leu127=) c.123C= (p.Leu41=) | |
14 | g.94382857G>T | CA487841121 | SERPINA1 | c.381C>A (p.Leu127=) c.123C>A (p.Leu41=) | |
14 | g.94382858A>C | CA390850115 | SERPINA1 | c.380T>G (p.Leu127Arg) c.122T>G (p.Leu41Arg) | |
14 | g.94382858A>G | CA390850116 | SERPINA1 | c.380T>C (p.Leu127Pro) c.122T>C (p.Leu41Pro) | |
14 | g.94382858A>T | CA390850117 | SERPINA1 | c.380T>A (p.Leu127His) c.122T>A (p.Leu41His) | |
14 | g.94382859G>A | CA390850121 | SERPINA1 | c.379C>T (p.Leu127Phe) c.121C>T (p.Leu41Phe) | gnomAD v4 |
14 | g.94382859G>C | CA390850119 | SERPINA1 | c.379C>G (p.Leu127Val) c.121C>G (p.Leu41Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382859G= | CA2155954812 | SERPINA1 | c.379C= (p.Leu127=) c.121C= (p.Leu41=) | |
14 | g.94382859G>T | CA390850118 | SERPINA1 | c.379C>A (p.Leu127Ile) c.121C>A (p.Leu41Ile) | COSMIC |
14 | g.94382860G>A | CA7327508 | SERPINA1 | c.378C>T (p.Thr126=) c.120C>T (p.Thr40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382860G>C | CA487841125 | SERPINA1 | c.378C>G (p.Thr126=) c.120C>G (p.Thr40=) | |
14 | g.94382860G= | CA2155954813 | SERPINA1 | c.378C= (p.Thr126=) c.120C= (p.Thr40=) | |
14 | g.94382860G>T | CA487841126 | SERPINA1 | c.378C>A (p.Thr126=) c.120C>A (p.Thr40=) | |
14 | g.94382861G>A | CA390850124 | SERPINA1 | c.377C>T (p.Thr126Ile) c.119C>T (p.Thr40Ile) | |
14 | g.94382861G>C | CA390850125 | SERPINA1 | c.377C>G (p.Thr126Ser) c.119C>G (p.Thr40Ser) | gnomAD v4 |
14 | g.94382861G>T | CA390850127 | SERPINA1 | c.377C>A (p.Thr126Asn) c.119C>A (p.Thr40Asn) | |
14 | g.94382862del | CA2695219661 | SERPINA1 | c.376del (p.Thr126ProfsTer11) c.118del (p.Thr40ProfsTer11) | |
14 | g.94382862T>A | CA390850129 | SERPINA1 | c.376A>T (p.Thr126Ser) c.118A>T (p.Thr40Ser) | |
14 | g.94382862T>C | CA390850131 | SERPINA1 | c.376A>G (p.Thr126Ala) c.118A>G (p.Thr40Ala) | |
14 | g.94382862T>G | CA390850132 | SERPINA1 | c.376A>C (p.Thr126Pro) c.118A>C (p.Thr40Pro) | |
14 | g.94382863A= | CA2155954814 | SERPINA1 | c.375T= (p.Arg125=) c.117T= (p.Arg39=) | |
14 | g.94382863A>C | CA487841128 | SERPINA1 | c.375T>G (p.Arg125=) c.117T>G (p.Arg39=) | |
14 | g.94382863A>G | CA487841129 | SERPINA1 | c.375T>C (p.Arg125=) c.117T>C (p.Arg39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382863A>T | CA487841130 | SERPINA1 | c.375T>A (p.Arg125=) c.117T>A (p.Arg39=) | |
14 | g.94382864C>A | CA390850133 | SERPINA1 | c.374G>T (p.Arg125Leu) c.116G>T (p.Arg39Leu) | |
14 | g.94382864C= | CA2155954815 | SERPINA1 | c.374G= (p.Arg125=) c.116G= (p.Arg39=) | |
14 | g.94382864C>G | CA390850134 | SERPINA1 | c.374G>C (p.Arg125Pro) c.116G>C (p.Arg39Pro) | |
14 | g.94382864C>T | CA127621 | SERPINA1 | c.374G>A (p.Arg125His) c.116G>A (p.Arg39His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382865G>A | CA7327509 | SERPINA1 | c.373C>T (p.Arg125Cys) c.115C>T (p.Arg39Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382865G>C | CA390850137 | SERPINA1 | c.373C>G (p.Arg125Gly) c.115C>G (p.Arg39Gly) | |
14 | g.94382865G= | CA2155954816 | SERPINA1 | c.373C= (p.Arg125=) c.115C= (p.Arg39=) | |
14 | g.94382865G>T | CA390850135 | SERPINA1 | c.373C>A (p.Arg125Ser) c.115C>A (p.Arg39Ser) | |
14 | g.94382866G>A | CA487841132 | SERPINA1 | c.372C>T (p.Leu124=) c.114C>T (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382866G>C | CA487841133 | SERPINA1 | c.372C>G (p.Leu124=) c.114C>G (p.Leu38=) | |
14 | g.94382866G>T | CA487841134 | SERPINA1 | c.372C>A (p.Leu124=) c.114C>A (p.Leu38=) | ClinVar |
14 | g.94382867A>C | CA390850139 | SERPINA1 | c.371T>G (p.Leu124Arg) c.113T>G (p.Leu38Arg) | |
14 | g.94382867A>G | CA390850141 | SERPINA1 | c.371T>C (p.Leu124Pro) c.113T>C (p.Leu38Pro) | gnomAD v4 |
14 | g.94382867A>T | CA390850142 | SERPINA1 | c.371T>A (p.Leu124His) c.113T>A (p.Leu38His) | |
14 | g.94382868G>A | CA390850144 | SERPINA1 | c.370C>T (p.Leu124Phe) c.112C>T (p.Leu38Phe) | |
14 | g.94382868G>C | CA390850146 | SERPINA1 | c.370C>G (p.Leu124Val) c.112C>G (p.Leu38Val) | |
14 | g.94382868G>T | CA390850148 | SERPINA1 | c.370C>A (p.Leu124Ile) c.112C>A (p.Leu38Ile) | |
14 | g.94382869G>A | CA487841140 | SERPINA1 | c.369C>T (p.Leu123=) c.111C>T (p.Leu37=) | |
14 | g.94382869G>C | CA487841142 | SERPINA1 | c.369C>G (p.Leu123=) c.111C>G (p.Leu37=) | |
14 | g.94382869G>T | CA487841144 | SERPINA1 | c.369C>A (p.Leu123=) c.111C>A (p.Leu37=) | ClinVar dbSNP |
14 | g.94382870A>C | CA390850149 | SERPINA1 | c.368T>G (p.Leu123Arg) c.110T>G (p.Leu37Arg) | |
14 | g.94382870A>G | CA390850151 | SERPINA1 | c.368T>C (p.Leu123Pro) c.110T>C (p.Leu37Pro) | |
14 | g.94382870A>T | CA390850153 | SERPINA1 | c.368T>A (p.Leu123His) c.110T>A (p.Leu37His) | |
14 | g.94382871G>A | CA390850155 | SERPINA1 | c.367C>T (p.Leu123Phe) c.109C>T (p.Leu37Phe) | gnomAD v4 |
14 | g.94382871G>C | CA390850156 | SERPINA1 | c.367C>G (p.Leu123Val) c.109C>G (p.Leu37Val) | gnomAD v4 |
14 | g.94382871G>T | CA390850157 | SERPINA1 | c.367C>A (p.Leu123Ile) c.109C>A (p.Leu37Ile) | |
14 | g.94382872T>A | CA390850162 | SERPINA1 | c.366A>T (p.Glu122Asp) c.108A>T (p.Glu36Asp) | |
14 | g.94382872T>C | CA7327510 | SERPINA1 | c.366A>G (p.Glu122=) c.108A>G (p.Glu36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382872T>G | CA390850160 | SERPINA1 | c.366A>C (p.Glu122Asp) c.108A>C (p.Glu36Asp) | |
14 | g.94382872T= | CA2155954817 | SERPINA1 | c.366A= (p.Glu122=) c.108A= (p.Glu36=) | |
14 | g.94382873T>A | CA390850164 | SERPINA1 | c.365A>T (p.Glu122Val) c.107A>T (p.Glu36Val) | |
14 | g.94382873T>C | CA390850165 | SERPINA1 | c.365A>G (p.Glu122Gly) c.107A>G (p.Glu36Gly) | |
14 | g.94382873T>G | CA390850167 | SERPINA1 | c.365A>C (p.Glu122Ala) c.107A>C (p.Glu36Ala) | |
14 | g.94382874C>A | CA390850168 | SERPINA1 | c.364G>T (p.Glu122Ter) c.106G>T (p.Glu36Ter) | |
14 | g.94382874C>G | CA390850170 | SERPINA1 | c.364G>C (p.Glu122Gln) c.106G>C (p.Glu36Gln) | |
14 | g.94382874C>T | CA390850172 | SERPINA1 | c.364G>A (p.Glu122Lys) c.106G>A (p.Glu36Lys) | COSMIC |
14 | g.94382875C>A | CA390850173 | SERPINA1 | c.363G>T (p.Gln121His) c.105G>T (p.Gln35His) | |
14 | g.94382875C>G | CA390850175 | SERPINA1 | c.363G>C (p.Gln121His) c.105G>C (p.Gln35His) | |
14 | g.94382875C>T | CA487841154 | SERPINA1 | c.363G>A (p.Gln121=) c.105G>A (p.Gln35=) | |
14 | g.94382876T>A | CA390850176 | SERPINA1 | c.362A>T (p.Gln121Leu) c.104A>T (p.Gln35Leu) | |
14 | g.94382876T>C | CA390850179 | SERPINA1 | c.362A>G (p.Gln121Arg) c.104A>G (p.Gln35Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382876T>G | CA390850181 | SERPINA1 | c.362A>C (p.Gln121Pro) c.104A>C (p.Gln35Pro) | |
14 | g.94382876T= | CA2155954818 | SERPINA1 | c.362A= (p.Gln121=) c.104A= (p.Gln35=) | |
14 | g.94382877G>A | CA390850185 | SERPINA1 | c.361C>T (p.Gln121Ter) c.103C>T (p.Gln35Ter) | |
14 | g.94382877G>C | CA390850183 | SERPINA1 | c.361C>G (p.Gln121Glu) c.103C>G (p.Gln35Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382877G= | CA2155954819 | SERPINA1 | c.361C= (p.Gln121=) c.103C= (p.Gln35=) | |
14 | g.94382877G>T | CA390850182 | SERPINA1 | c.361C>A (p.Gln121Lys) c.103C>A (p.Gln35Lys) | |
14 | g.94382878G>A | CA487841158 | SERPINA1 | c.360C>T (p.Phe120=) c.102C>T (p.Phe34=) | |
14 | g.94382878G>C | CA390850187 | SERPINA1 | c.360C>G (p.Phe120Leu) c.102C>G (p.Phe34Leu) | gnomAD v4 |
14 | g.94382878G>T | CA390850188 | SERPINA1 | c.360C>A (p.Phe120Leu) c.102C>A (p.Phe34Leu) | |
14 | g.94382879A>C | CA390850189 | SERPINA1 | c.359T>G (p.Phe120Cys) c.101T>G (p.Phe34Cys) | |
14 | g.94382879A>G | CA390850191 | SERPINA1 | c.359T>C (p.Phe120Ser) c.101T>C (p.Phe34Ser) | |
14 | g.94382879A>T | CA390850193 | SERPINA1 | c.359T>A (p.Phe120Tyr) c.101T>A (p.Phe34Tyr) | |
14 | g.94382880A>C | CA390850195 | SERPINA1 | c.358T>G (p.Phe120Val) c.100T>G (p.Phe34Val) | gnomAD v4 |
14 | g.94382880A>G | CA390850196 | SERPINA1 | c.358T>C (p.Phe120Leu) c.100T>C (p.Phe34Leu) | |
14 | g.94382880A>T | CA390850197 | SERPINA1 | c.358T>A (p.Phe120Ile) c.100T>A (p.Phe34Ile) | |
14 | g.94382881G>A | CA487841161 | SERPINA1 | c.357C>T (p.Gly119=) c.99C>T (p.Gly33=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382881G>C | CA487841165 | SERPINA1 | c.357C>G (p.Gly119=) c.99C>G (p.Gly33=) | |
14 | g.94382881G= | CA2155954820 | SERPINA1 | c.357C= (p.Gly119=) c.99C= (p.Gly33=) | |
14 | g.94382881G>T | CA487841168 | SERPINA1 | c.357C>A (p.Gly119=) c.99C>A (p.Gly33=) | |
14 | g.94382882C>A | CA265864148 | SERPINA1 | c.356G>T (p.Gly119Val) c.98G>T (p.Gly33Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C= | CA2155954821 | SERPINA1 | c.356G= (p.Gly119=) c.98G= (p.Gly33=) | |
14 | g.94382882C>G | CA265864149 | SERPINA1 | c.356G>C (p.Gly119Ala) c.98G>C (p.Gly33Ala) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C>T | CA390850200 | SERPINA1 | c.356G>A (p.Gly119Asp) c.98G>A (p.Gly33Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94382883C>A | CA390850202 | SERPINA1 | c.355G>T (p.Gly119Cys) c.97G>T (p.Gly33Cys) | |
14 | g.94382883C>G | CA390850203 | SERPINA1 | c.355G>C (p.Gly119Arg) c.97G>C (p.Gly33Arg) | |
14 | g.94382883C>T | CA390850205 | SERPINA1 | c.355G>A (p.Gly119Ser) c.97G>A (p.Gly33Ser) | gnomAD v4 |
14 | g.94382883_94382884delinsCT | CA2155954822 | SERPINA1 | c.354_355delinsAG (p.Glu118=) c.96_97delinsAG (p.Glu32=) | |
14 | g.94382884T>A | CA390850206 | SERPINA1 | c.354A>T (p.Glu118Asp) c.96A>T (p.Glu32Asp) | |
14 | g.94382884T>C | CA487841174 | SERPINA1 | c.354A>G (p.Glu118=) c.96A>G (p.Glu32=) | ClinVar |
14 | g.94382884T>G | CA390850207 | SERPINA1 | c.354A>C (p.Glu118Asp) c.96A>C (p.Glu32Asp) | gnomAD v4 |
14 | g.94382885del | CA2155954823 | SERPINA1 | c.354del (p.Gly119AlafsTer18) c.96del (p.Gly33AlafsTer18) | dbSNP |