Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATC | CA2155954756 | SERPINA1 | c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=) c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=) | |
14 | g.94382740_94382769del | CA7327484 | SERPINA1 | c.469_498del (p.Asp157_Ala166del) c.211_240del (p.Asp71_Ala80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382743T>A | CA390849619 | SERPINA1 | c.495A>T (p.Glu165Asp) c.237A>T (p.Glu79Asp) | |
14 | g.94382743T>C | CA487622051 | SERPINA1 | c.495A>G (p.Glu165=) c.237A>G (p.Glu79=) | |
14 | g.94382743T>G | CA390849620 | SERPINA1 | c.495A>C (p.Glu165Asp) c.237A>C (p.Glu79Asp) | |
14 | g.94382744T>A | CA390849621 | SERPINA1 | c.494A>T (p.Glu165Val) c.236A>T (p.Glu79Val) | |
14 | g.94382744T>C | CA390849622 | SERPINA1 | c.494A>G (p.Glu165Gly) c.236A>G (p.Glu79Gly) | gnomAD v4 |
14 | g.94382744T>G | CA390849623 | SERPINA1 | c.494A>C (p.Glu165Ala) c.236A>C (p.Glu79Ala) | |
14 | g.94382745C>A | CA390849624 | SERPINA1 | c.493G>T (p.Glu165Ter) c.235G>T (p.Glu79Ter) | |
14 | g.94382745C>G | CA390849625 | SERPINA1 | c.493G>C (p.Glu165Gln) c.235G>C (p.Glu79Gln) | COSMIC |
14 | g.94382745C>T | CA390849626 | SERPINA1 | c.493G>A (p.Glu165Lys) c.235G>A (p.Glu79Lys) | |
14 | g.94382746T>A | CA487622052 | SERPINA1 | c.492A>T (p.Ser164=) c.234A>T (p.Ser78=) | |
14 | g.94382746T>C | CA487622054 | SERPINA1 | c.492A>G (p.Ser164=) c.234A>G (p.Ser78=) | gnomAD v4 |
14 | g.94382746T>G | CA487622053 | SERPINA1 | c.492A>C (p.Ser164=) c.234A>C (p.Ser78=) | |
14 | g.94382747G>A | CA390849715 | SERPINA1 | c.491C>T (p.Ser164Leu) c.233C>T (p.Ser78Leu) | gnomAD v4 |
14 | g.94382747G>C | CA390849719 | SERPINA1 | c.491C>G (p.Ser164Ter) c.233C>G (p.Ser78Ter) | |
14 | g.94382747G>T | CA390849717 | SERPINA1 | c.491C>A (p.Ser164Ter) c.233C>A (p.Ser78Ter) | COSMIC |
14 | g.94382748A= | CA2155954758 | SERPINA1 | c.490T= (p.Ser164=) c.232T= (p.Ser78=) | |
14 | g.94382748A>C | CA390849720 | SERPINA1 | c.490T>G (p.Ser164Ala) c.232T>G (p.Ser78Ala) | |
14 | g.94382748A>G | CA265864120 | SERPINA1 | c.490T>C (p.Ser164Pro) c.232T>C (p.Ser78Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382748A>T | CA390849723 | SERPINA1 | c.490T>A (p.Ser164Thr) c.232T>A (p.Ser78Thr) | |
14 | g.94382749G>A | CA487841009 | SERPINA1 | c.489C>T (p.His163=) c.231C>T (p.His77=) | |
14 | g.94382749G>C | CA390849725 | SERPINA1 | c.489C>G (p.His163Gln) c.231C>G (p.His77Gln) | |
14 | g.94382749G>T | CA390849726 | SERPINA1 | c.489C>A (p.His163Gln) c.231C>A (p.His77Gln) | |
14 | g.94382750T>A | CA390849727 | SERPINA1 | c.488A>T (p.His163Leu) c.230A>T (p.His77Leu) | gnomAD v4 |
14 | g.94382750T>C | CA390849728 | SERPINA1 | c.488A>G (p.His163Arg) c.230A>G (p.His77Arg) | gnomAD v4 |
14 | g.94382750T>G | CA390849730 | SERPINA1 | c.488A>C (p.His163Pro) c.230A>C (p.His77Pro) | |
14 | g.94382751G>A | CA390849731 | SERPINA1 | c.487C>T (p.His163Tyr) c.229C>T (p.His77Tyr) | gnomAD v4 |
14 | g.94382751G>C | CA390849733 | SERPINA1 | c.487C>G (p.His163Asp) c.229C>G (p.His77Asp) | |
14 | g.94382751G>T | CA390849735 | SERPINA1 | c.487C>A (p.His163Asn) c.229C>A (p.His77Asn) | |
14 | g.94382752G>A | CA487841010 | SERPINA1 | c.486C>T (p.Tyr162=) c.228C>T (p.Tyr76=) | |
14 | g.94382752G>C | CA390849736 | SERPINA1 | c.486C>G (p.Tyr162Ter) c.228C>G (p.Tyr76Ter) | |
14 | g.94382752G>T | CA390849738 | SERPINA1 | c.486C>A (p.Tyr162Ter) c.228C>A (p.Tyr76Ter) | |
14 | g.94382753T>A | CA390849740 | SERPINA1 | c.485A>T (p.Tyr162Phe) c.227A>T (p.Tyr76Phe) | |
14 | g.94382753T>C | CA390849743 | SERPINA1 | c.485A>G (p.Tyr162Cys) c.227A>G (p.Tyr76Cys) | |
14 | g.94382753T>G | CA390849741 | SERPINA1 | c.485A>C (p.Tyr162Ser) c.227A>C (p.Tyr76Ser) | |
14 | g.94382754A>C | CA390849745 | SERPINA1 | c.484T>G (p.Tyr162Asp) c.226T>G (p.Tyr76Asp) | |
14 | g.94382754A>G | CA390849746 | SERPINA1 | c.484T>C (p.Tyr162His) c.226T>C (p.Tyr76His) | |
14 | g.94382754A>T | CA390849748 | SERPINA1 | c.484T>A (p.Tyr162Asn) c.226T>A (p.Tyr76Asn) | |
14 | g.94382755C>A | CA390849750 | SERPINA1 | c.483G>T (p.Leu161Phe) c.225G>T (p.Leu75Phe) | dbSNP gnomAD v4 |
14 | g.94382755C= | CA2155954759 | SERPINA1 | c.483G= (p.Leu161=) c.225G= (p.Leu75=) | |
14 | g.94382755C>G | CA390849752 | SERPINA1 | c.483G>C (p.Leu161Phe) c.225G>C (p.Leu75Phe) | gnomAD v4 |
14 | g.94382755C>T | CA265864121 | SERPINA1 | c.483G>A (p.Leu161=) c.225G>A (p.Leu75=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382756A>C | CA390849754 | SERPINA1 | c.482T>G (p.Leu161Trp) c.224T>G (p.Leu75Trp) | gnomAD v4 |
14 | g.94382756A>G | CA390849755 | SERPINA1 | c.482T>C (p.Leu161Ser) c.224T>C (p.Leu75Ser) | |
14 | g.94382756A>T | CA390849757 | SERPINA1 | c.482T>A (p.Leu161Ter) c.224T>A (p.Leu75Ter) | |
14 | g.94382757A>C | CA390849758 | SERPINA1 | c.481T>G (p.Leu161Val) c.223T>G (p.Leu75Val) | |
14 | g.94382757A>G | CA487841013 | SERPINA1 | c.481T>C (p.Leu161=) c.223T>C (p.Leu75=) | ClinVar gnomAD v4 |
14 | g.94382757A>T | CA390849760 | SERPINA1 | c.481T>A (p.Leu161Met) c.223T>A (p.Leu75Met) | |
14 | g.94382758del | CA2695199866 | SERPINA1 | c.480del (p.Lys160AsnfsTer?) c.222del (p.Lys74AsnfsTer?) | ClinVar |
14 | g.94382758C>A | CA390849762 | SERPINA1 | c.480G>T (p.Lys160Asn) c.222G>T (p.Lys74Asn) | |
14 | g.94382758C>G | CA390849763 | SERPINA1 | c.480G>C (p.Lys160Asn) c.222G>C (p.Lys74Asn) | gnomAD v4 |
14 | g.94382758C>T | CA487841016 | SERPINA1 | c.480G>A (p.Lys160=) c.222G>A (p.Lys74=) | |
14 | g.94382759T>A | CA390849764 | SERPINA1 | c.479A>T (p.Lys160Met) c.221A>T (p.Lys74Met) | |
14 | g.94382759T>C | CA390849768 | SERPINA1 | c.479A>G (p.Lys160Arg) c.221A>G (p.Lys74Arg) | |
14 | g.94382759T>G | CA390849766 | SERPINA1 | c.479A>C (p.Lys160Thr) c.221A>C (p.Lys74Thr) | dbSNP |
14 | g.94382759T= | CA2155954760 | SERPINA1 | c.479A= (p.Lys160=) c.221A= (p.Lys74=) | |
14 | g.94382763dup | CA645582240 | SERPINA1 | c.479dup (p.Leu161ValfsTer?) c.221dup (p.Leu75ValfsTer?) | COSMIC |
14 | g.94382763del | CA645582239 | SERPINA1 | c.479del (p.Lys160SerfsTer?) c.221del (p.Lys74SerfsTer?) | COSMIC |
14 | g.94382760T>A | CA390849770 | SERPINA1 | c.478A>T (p.Lys160Ter) c.220A>T (p.Lys74Ter) | |
14 | g.94382760T>C | CA390849771 | SERPINA1 | c.478A>G (p.Lys160Glu) c.220A>G (p.Lys74Glu) | |
14 | g.94382760T>G | CA390849772 | SERPINA1 | c.478A>C (p.Lys160Gln) c.220A>C (p.Lys74Gln) | dbSNP |
14 | g.94382760T= | CA2155954761 | SERPINA1 | c.478A= (p.Lys160=) c.220A= (p.Lys74=) | |
14 | g.94382761T>A | CA390849774 | SERPINA1 | c.477A>T (p.Lys159Asn) c.219A>T (p.Lys73Asn) | |
14 | g.94382761T>C | CA7327485 | SERPINA1 | c.477A>G (p.Lys159=) c.219A>G (p.Lys73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382761T>G | CA390849776 | SERPINA1 | c.477A>C (p.Lys159Asn) c.219A>C (p.Lys73Asn) | |
14 | g.94382761T= | CA2155954762 | SERPINA1 | c.477A= (p.Lys159=) c.219A= (p.Lys73=) | |
14 | g.94382762T>A | CA390849777 | SERPINA1 | c.476A>T (p.Lys159Ile) c.218A>T (p.Lys73Ile) | |
14 | g.94382762T>C | CA390849779 | SERPINA1 | c.476A>G (p.Lys159Arg) c.218A>G (p.Lys73Arg) | |
14 | g.94382762T>G | CA390849781 | SERPINA1 | c.476A>C (p.Lys159Thr) c.218A>C (p.Lys73Thr) | |
14 | g.94382763T>A | CA390849783 | SERPINA1 | c.475A>T (p.Lys159Ter) c.217A>T (p.Lys73Ter) | ClinVar |
14 | g.94382763T>C | CA390849784 | SERPINA1 | c.475A>G (p.Lys159Glu) c.217A>G (p.Lys73Glu) | |
14 | g.94382763T>G | CA390849785 | SERPINA1 | c.475A>C (p.Lys159Gln) c.217A>C (p.Lys73Gln) | |
14 | g.94382764A>C | CA487841022 | SERPINA1 | c.474T>G (p.Val158=) c.216T>G (p.Val72=) | |
14 | g.94382764A>G | CA487841023 | SERPINA1 | c.474T>C (p.Val158=) c.216T>C (p.Val72=) | |
14 | g.94382764A>T | CA487841024 | SERPINA1 | c.474T>A (p.Val158=) c.216T>A (p.Val72=) | |
14 | g.94382765A>C | CA390849791 | SERPINA1 | c.473T>G (p.Val158Gly) c.215T>G (p.Val72Gly) | |
14 | g.94382765A>G | CA390849787 | SERPINA1 | c.473T>C (p.Val158Ala) c.215T>C (p.Val72Ala) | |
14 | g.94382765A>T | CA390849789 | SERPINA1 | c.473T>A (p.Val158Asp) c.215T>A (p.Val72Asp) | |
14 | g.94382766C>A | CA7327486 | SERPINA1 | c.472G>T (p.Val158Phe) c.214G>T (p.Val72Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382766C= | CA2155954763 | SERPINA1 | c.472G= (p.Val158=) c.214G= (p.Val72=) | |
14 | g.94382766C>G | CA390849792 | SERPINA1 | c.472G>C (p.Val158Leu) c.214G>C (p.Val72Leu) | |
14 | g.94382766C>T | CA390849794 | SERPINA1 | c.472G>A (p.Val158Ile) c.214G>A (p.Val72Ile) | gnomAD v4 |
14 | g.94382767A= | CA2155954764 | SERPINA1 | c.471T= (p.Asp157=) c.213T= (p.Asp71=) | |
14 | g.94382767A>C | CA390849796 | SERPINA1 | c.471T>G (p.Asp157Glu) c.213T>G (p.Asp71Glu) | |
14 | g.94382767A>G | CA487841026 | SERPINA1 | c.471T>C (p.Asp157=) c.213T>C (p.Asp71=) | |
14 | g.94382767A>T | CA390849798 | SERPINA1 | c.471T>A (p.Asp157Glu) c.213T>A (p.Asp71Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382768T>A | CA390849799 | SERPINA1 | c.470A>T (p.Asp157Val) c.212A>T (p.Asp71Val) | ClinVar dbSNP gnomAD v4 |
14 | g.94382768T>C | CA7327487 | SERPINA1 | c.470A>G (p.Asp157Gly) c.212A>G (p.Asp71Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382768T>G | CA390849802 | SERPINA1 | c.470A>C (p.Asp157Ala) c.212A>C (p.Asp71Ala) | |
14 | g.94382768T= | CA2155954765 | SERPINA1 | c.470A= (p.Asp157=) c.212A= (p.Asp71=) | |
14 | g.94382769C>A | CA390849803 | SERPINA1 | c.469G>T (p.Asp157Tyr) c.211G>T (p.Asp71Tyr) c.469G>T | |
14 | g.94382769C= | CA2155954766 | SERPINA1 | c.469G= (p.Asp157=) c.211G= (p.Asp71=) c.469G= | |
14 | g.94382769C>G | CA390849805 | SERPINA1 | c.469G>C (p.Asp157His) c.211G>C (p.Asp71His) c.469G>C | |
14 | g.94382769C>T | CA390849806 | SERPINA1 | c.469G>A (p.Asp157Asn) c.211G>A (p.Asp71Asn) c.469G>A | ClinVar dbSNP |
14 | g.94382770C>A | CA390849807 | SERPINA1 | c.468G>T (p.Glu156Asp) c.210G>T (p.Glu70Asp) | |
14 | g.94382770C>G | CA390849809 | SERPINA1 | c.468G>C (p.Glu156Asp) c.210G>C (p.Glu70Asp) | |
14 | g.94382770C>T | CA487841030 | SERPINA1 | c.468G>A (p.Glu156=) c.210G>A (p.Glu70=) | |
14 | g.94382771T>A | CA390849811 | SERPINA1 | c.467A>T (p.Glu156Val) c.209A>T (p.Glu70Val) | |
14 | g.94382771T>C | CA390849812 | SERPINA1 | c.467A>G (p.Glu156Gly) c.209A>G (p.Glu70Gly) | |
14 | g.94382771T>G | CA390849814 | SERPINA1 | c.467A>C (p.Glu156Ala) c.209A>C (p.Glu70Ala) | |
14 | g.94382772C>A | CA265864124 | SERPINA1 | c.466G>T (p.Glu156Ter) c.208G>T (p.Glu70Ter) | dbSNP |
14 | g.94382772C= | CA2155954767 | SERPINA1 | c.466G= (p.Glu156=) c.208G= (p.Glu70=) | |
14 | g.94382772C>G | CA390849817 | SERPINA1 | c.466G>C (p.Glu156Gln) c.208G>C (p.Glu70Gln) | |
14 | g.94382772C>T | CA7327488 | SERPINA1 | c.466G>A (p.Glu156Lys) c.208G>A (p.Glu70Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382773C>A | CA390849819 | SERPINA1 | c.465G>T (p.Leu155Phe) c.207G>T (p.Leu69Phe) | |
14 | g.94382773C= | CA2155954768 | SERPINA1 | c.465G= (p.Leu155=) c.207G= (p.Leu69=) | |
14 | g.94382773C>G | CA390849821 | SERPINA1 | c.465G>C (p.Leu155Phe) c.207G>C (p.Leu69Phe) | gnomAD v4 |
14 | g.94382773C>T | CA487841034 | SERPINA1 | c.465G>A (p.Leu155=) c.207G>A (p.Leu69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382773_94382774delinsCA | CA2155954769 | SERPINA1 | c.464_465delinsTG (p.Leu155=) c.206_207delinsTG (p.Leu69=) | |
14 | g.94382774A>C | CA390849823 | SERPINA1 | c.464T>G (p.Leu155Trp) c.206T>G (p.Leu69Trp) | |
14 | g.94382774A>G | CA390849824 | SERPINA1 | c.464T>C (p.Leu155Ser) c.206T>C (p.Leu69Ser) | |
14 | g.94382774A>T | CA390849826 | SERPINA1 | c.464T>A (p.Leu155Ter) c.206T>A (p.Leu69Ter) | |
14 | g.94382778del | CA7327489 | SERPINA1 | c.464del (p.Leu155TrpfsTer?) c.206del (p.Leu69TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382775A= | CA2155954770 | SERPINA1 | c.463T= (p.Leu155=) c.205T= (p.Leu69=) | |
14 | g.94382775A>C | CA390849830 | SERPINA1 | c.463T>G (p.Leu155Val) c.205T>G (p.Leu69Val) | |
14 | g.94382775A>G | CA7327490 | SERPINA1 | c.463T>C (p.Leu155=) c.205T>C (p.Leu69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382775A>T | CA390849828 | SERPINA1 | c.463T>A (p.Leu155Met) c.205T>A (p.Leu69Met) | |
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) | |
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 |