Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94619343_94619356delinsGGAGCTGAAGTACACA2156074106SERPINA3c.792_805delinsGGAGCTGAAGTACA (p.Val264=)
c.138_151delinsGGAGCTGAAGTACA (p.Val46=)
c.1755_1768delinsGGAGCTGAAGTACA
n.58-2998_58-2985delinsGGAGCTGAAGTACA
c.644-2998_644-2985delinsGGAGCTGAAGTACA (n.644-2998_644-2985delinsGGAGCTGAAGTACA)
c.11_24delinsGGAGCTGAAGTACA
14g.94619344_94619356delCA7329890SERPINA3c.793_805del (p.Glu265GlnfsTer28)
c.139_151del (p.Glu47GlnfsTer28)
c.1756_1768del
n.58-2997_58-2985del
c.644-2997_644-2985del (n.644-2997_644-2985del)
c.12_24del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619350_94619367delinsAAGTACACAGGCAATGCCCA2156074110SERPINA3c.799_816delinsAAGTACACAGGCAATGCC (p.Lys267=)
c.145_162delinsAAGTACACAGGCAATGCC (p.Lys49=)
c.1762_1779delinsAAGTACACAGGCAATGCC
n.58-2991_58-2974delinsAAGTACACAGGCAATGCC
c.644-2991_644-2974delinsAAGTACACAGGCAATGCC (n.644-2991_644-2974delinsAAGTACACAGGCAATGCC)
c.18_35delinsAAGTACACAGGCAATGCC
14g.94619353_94619369delCA7329893SERPINA3c.802_818del (p.Tyr268ArgfsTer7)
c.148_164del (p.Tyr50ArgfsTer7)
c.1765_1781del
n.58-2988_58-2972del
c.644-2988_644-2972del (n.644-2988_644-2972del)
c.21_37del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619352G>ACA487625251SERPINA3c.801G>A (p.Lys267=)
c.147G>A (p.Lys49=)
c.1764G>A
n.58-2989G>A
c.644-2989G>A (n.644-2989G>A)
c.20G>A
 dbSNP gnomAD v2 gnomAD v4
14g.94619352G>CCA390855939SERPINA3c.801G>C (p.Lys267Asn)
c.147G>C (p.Lys49Asn)
c.1764G>C
n.58-2989G>C
c.644-2989G>C (n.644-2989G>C)
c.20G>C
14g.94619352G=CA2156074112SERPINA3c.801G= (p.Lys267=)
c.147G= (p.Lys49=)
c.1764G=
n.58-2989G=
c.644-2989G= (n.644-2989G=)
c.20G=
14g.94619352G>TCA390855940SERPINA3c.801G>T (p.Lys267Asn)
c.147G>T (p.Lys49Asn)
c.1764G>T
n.58-2989G>T
c.644-2989G>T (n.644-2989G>T)
c.20G>T
14g.94619353T>ACA390855941SERPINA3c.802T>A (p.Tyr268Asn)
c.148T>A (p.Tyr50Asn)
c.1765T>A
n.58-2988T>A
c.644-2988T>A (n.644-2988T>A)
c.21T>A
14g.94619353T>CCA390855942SERPINA3c.802T>C (p.Tyr268His)
c.148T>C (p.Tyr50His)
c.1765T>C
n.58-2988T>C
c.644-2988T>C (n.644-2988T>C)
c.21T>C
14g.94619353T>GCA390855943SERPINA3c.802T>G (p.Tyr268Asp)
c.148T>G (p.Tyr50Asp)
c.1765T>G
n.58-2988T>G
c.644-2988T>G (n.644-2988T>G)
c.21T>G
14g.94619354A=CA2156074113SERPINA3c.803A= (p.Tyr268=)
c.149A= (p.Tyr50=)
c.1766A=
n.58-2987A=
c.644-2987A= (n.644-2987A=)
c.22A=
14g.94619354A>CCA390855944SERPINA3c.803A>C (p.Tyr268Ser)
c.149A>C (p.Tyr50Ser)
c.1766A>C
n.58-2987A>C
c.644-2987A>C (n.644-2987A>C)
c.22A>C
14g.94619354A>GCA265885103SERPINA3c.803A>G (p.Tyr268Cys)
c.149A>G (p.Tyr50Cys)
c.1766A>G
n.58-2987A>G
c.644-2987A>G (n.644-2987A>G)
c.22A>G
 dbSNP
14g.94619354A>TCA390855945SERPINA3c.803A>T (p.Tyr268Phe)
c.149A>T (p.Tyr50Phe)
c.1766A>T
n.58-2987A>T
c.644-2987A>T (n.644-2987A>T)
c.22A>T
14g.94619355C>ACA390855946SERPINA3c.804C>A (p.Tyr268Ter)
c.150C>A (p.Tyr50Ter)
c.1767C>A
n.58-2986C>A
c.644-2986C>A (n.644-2986C>A)
c.23C>A
14g.94619355C>GCA390855947SERPINA3c.804C>G (p.Tyr268Ter)
c.150C>G (p.Tyr50Ter)
c.1767C>G
n.58-2986C>G
c.644-2986C>G (n.644-2986C>G)
c.23C>G
14g.94619355C>TCA487625252SERPINA3c.804C>T (p.Tyr268=)
c.150C>T (p.Tyr50=)
c.1767C>T
n.58-2986C>T
c.644-2986C>T (n.644-2986C>T)
c.23C>T
14g.94619356A>CCA390855950SERPINA3c.805A>C (p.Thr269Pro)
c.151A>C (p.Thr51Pro)
c.1768A>C
n.58-2985A>C
c.644-2985A>C (n.644-2985A>C)
c.24A>C
 gnomAD v4
14g.94619356A>GCA390855949SERPINA3c.805A>G (p.Thr269Ala)
c.151A>G (p.Thr51Ala)
c.1768A>G
n.58-2985A>G
c.644-2985A>G (n.644-2985A>G)
c.24A>G
14g.94619356A>TCA390855948SERPINA3c.805A>T (p.Thr269Ser)
c.151A>T (p.Thr51Ser)
c.1768A>T
n.58-2985A>T
c.644-2985A>T (n.644-2985A>T)
c.24A>T
14g.94619356_94619357insTCA966147927SERPINA3c.805_806insT (p.Thr269IlefsTer12)
c.151_152insT (p.Thr51IlefsTer12)
c.1768_1769insT
n.58-2985_58-2984insT
c.644-2985_644-2984insT (n.644-2985_644-2984insT)
c.24_25insT
 gnomAD v3 gnomAD v4
14g.94619357C>ACA390855951SERPINA3c.806C>A (p.Thr269Lys)
c.152C>A (p.Thr51Lys)
c.1769C>A
n.58-2984C>A
c.644-2984C>A (n.644-2984C>A)
c.25C>A
 gnomAD v4
14g.94619357C>GCA390855952SERPINA3c.806C>G (p.Thr269Arg)
c.152C>G (p.Thr51Arg)
c.1769C>G
n.58-2984C>G
c.644-2984C>G (n.644-2984C>G)
c.25C>G
14g.94619357C>TCA390855953SERPINA3c.806C>T (p.Thr269Ile)
c.152C>T (p.Thr51Ile)
c.1769C>T
n.58-2984C>T
c.644-2984C>T (n.644-2984C>T)
c.25C>T
 gnomAD v4
14g.94619358A>CCA487625253SERPINA3c.807A>C (p.Thr269=)
c.153A>C (p.Thr51=)
c.1770A>C
n.58-2983A>C
c.644-2983A>C (n.644-2983A>C)
c.26A>C
 gnomAD v4
14g.94619358A>GCA487625254SERPINA3c.807A>G (p.Thr269=)
c.153A>G (p.Thr51=)
c.1770A>G
n.58-2983A>G
c.644-2983A>G (n.644-2983A>G)
c.26A>G
14g.94619358A>TCA487625255SERPINA3c.807A>T (p.Thr269=)
c.153A>T (p.Thr51=)
c.1770A>T
n.58-2983A>T
c.644-2983A>T (n.644-2983A>T)
c.26A>T
14g.94619359_94619360insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAGCA966147935SERPINA3c.808_809insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG (p.Gly270AlafsTer6)
c.154_155insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG (p.Gly52AlafsTer6)
c.1771_1772insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG
n.58-2982_58-2981insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG
c.644-2982_644-2981insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG (n.644-2982_644-2981insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG)
c.27_28insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG
 gnomAD v3 gnomAD v4
14g.94619359G>ACA7329894SERPINA3c.808G>A (p.Gly270Ser)
c.154G>A (p.Gly52Ser)
c.1771G>A
n.58-2982G>A
c.644-2982G>A (n.644-2982G>A)
c.27G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619359G>CCA390855954SERPINA3c.808G>C (p.Gly270Arg)
c.154G>C (p.Gly52Arg)
c.1771G>C
n.58-2982G>C
c.644-2982G>C (n.644-2982G>C)
c.27G>C
14g.94619359G=CA2156074114SERPINA3c.808G= (p.Gly270=)
c.154G= (p.Gly52=)
c.1771G=
n.58-2982G=
c.644-2982G= (n.644-2982G=)
c.27G=
14g.94619359G>TCA390855955SERPINA3c.808G>T (p.Gly270Cys)
c.154G>T (p.Gly52Cys)
c.1771G>T
n.58-2982G>T
c.644-2982G>T (n.644-2982G>T)
c.27G>T
14g.94619360G>ACA390855957SERPINA3c.809G>A (p.Gly270Asp)
c.155G>A (p.Gly52Asp)
c.1772G>A
n.58-2981G>A
c.644-2981G>A (n.644-2981G>A)
c.28G>A
14g.94619360G>CCA390855959SERPINA3c.809G>C (p.Gly270Ala)
c.155G>C (p.Gly52Ala)
c.1772G>C
n.58-2981G>C
c.644-2981G>C (n.644-2981G>C)
c.28G>C
 gnomAD v4
14g.94619360G>TCA390855961SERPINA3c.809G>T (p.Gly270Val)
c.155G>T (p.Gly52Val)
c.1772G>T
n.58-2981G>T
c.644-2981G>T (n.644-2981G>T)
c.28G>T
14g.94619361C>ACA487625258SERPINA3c.810C>A (p.Gly270=)
c.156C>A (p.Gly52=)
c.1773C>A
n.58-2980C>A
c.644-2980C>A (n.644-2980C>A)
c.29C>A
14g.94619361C>GCA487625257SERPINA3c.810C>G (p.Gly270=)
c.156C>G (p.Gly52=)
c.1773C>G
n.58-2980C>G
c.644-2980C>G (n.644-2980C>G)
c.29C>G
14g.94619361C>TCA487625256SERPINA3c.810C>T (p.Gly270=)
c.156C>T (p.Gly52=)
c.1773C>T
n.58-2980C>T
c.644-2980C>T (n.644-2980C>T)
c.29C>T
 COSMIC COSMIC
14g.94619362A>CCA390855963SERPINA3c.811A>C (p.Asn271His)
c.157A>C (p.Asn53His)
c.1774A>C
n.58-2979A>C
c.644-2979A>C (n.644-2979A>C)
c.30A>C
14g.94619362A>GCA390855965SERPINA3c.811A>G (p.Asn271Asp)
c.157A>G (p.Asn53Asp)
c.1774A>G
n.58-2979A>G
c.644-2979A>G (n.644-2979A>G)
c.30A>G
 gnomAD v4
14g.94619362A>TCA390855967SERPINA3c.811A>T (p.Asn271Tyr)
c.157A>T (p.Asn53Tyr)
c.1774A>T
n.58-2979A>T
c.644-2979A>T (n.644-2979A>T)
c.30A>T
14g.94619363A=CA2156074115SERPINA3c.812A= (p.Asn271=)
c.158A= (p.Asn53=)
c.1775A=
n.58-2978A=
c.644-2978A= (n.644-2978A=)
c.31A=
14g.94619363A>CCA390855972SERPINA3c.812A>C (p.Asn271Thr)
c.158A>C (p.Asn53Thr)
c.1775A>C
n.58-2978A>C
c.644-2978A>C (n.644-2978A>C)
c.31A>C
14g.94619363A>GCA265885124SERPINA3c.812A>G (p.Asn271Ser)
c.158A>G (p.Asn53Ser)
c.1775A>G
n.58-2978A>G
c.644-2978A>G (n.644-2978A>G)
c.31A>G
 dbSNP
14g.94619363A>TCA390855969SERPINA3c.812A>T (p.Asn271Ile)
c.158A>T (p.Asn53Ile)
c.1775A>T
n.58-2978A>T
c.644-2978A>T (n.644-2978A>T)
c.31A>T
14g.94619364T>ACA390855973SERPINA3c.813T>A (p.Asn271Lys)
c.159T>A (p.Asn53Lys)
c.1776T>A
n.58-2977T>A
c.644-2977T>A (n.644-2977T>A)
c.32T>A
14g.94619364T>CCA487625259SERPINA3c.813T>C (p.Asn271=)
c.159T>C (p.Asn53=)
c.1776T>C
n.58-2977T>C
c.644-2977T>C (n.644-2977T>C)
c.32T>C
14g.94619364T>GCA390855976SERPINA3c.813T>G (p.Asn271Lys)
c.159T>G (p.Asn53Lys)
c.1776T>G
n.58-2977T>G
c.644-2977T>G (n.644-2977T>G)
c.32T>G
14g.94619365G>ACA390855978SERPINA3c.814G>A (p.Ala272Thr)
c.160G>A (p.Ala54Thr)
c.1777G>A
n.58-2976G>A
c.644-2976G>A (n.644-2976G>A)
c.33G>A
 COSMIC
14g.94619365G>CCA390855980SERPINA3c.814G>C (p.Ala272Pro)
c.160G>C (p.Ala54Pro)
c.1777G>C
n.58-2976G>C
c.644-2976G>C (n.644-2976G>C)
c.33G>C
14g.94619365G>TCA390855981SERPINA3c.814G>T (p.Ala272Ser)
c.160G>T (p.Ala54Ser)
c.1777G>T
n.58-2976G>T
c.644-2976G>T (n.644-2976G>T)
c.33G>T
14g.94619366C>ACA390855983SERPINA3c.815C>A (p.Ala272Asp)
c.161C>A (p.Ala54Asp)
c.1778C>A
n.58-2975C>A
c.644-2975C>A (n.644-2975C>A)
c.34C>A
14g.94619366C=CA2156074116SERPINA3c.815C= (p.Ala272=)
c.161C= (p.Ala54=)
c.1778C=
n.58-2975C=
c.644-2975C= (n.644-2975C=)
c.34C=
14g.94619366C>GCA7329895SERPINA3c.815C>G (p.Ala272Gly)
c.161C>G (p.Ala54Gly)
c.1778C>G
n.58-2975C>G
c.644-2975C>G (n.644-2975C>G)
c.34C>G
 dbSNP ExAC gnomAD v4
14g.94619366C>TCA390855986SERPINA3c.815C>T (p.Ala272Val)
c.161C>T (p.Ala54Val)
c.1778C>T
n.58-2975C>T
c.644-2975C>T (n.644-2975C>T)
c.34C>T
 gnomAD v4
14g.94619367C>ACA487625260SERPINA3c.816C>A (p.Ala272=)
c.162C>A (p.Ala54=)
c.1779C>A
n.58-2974C>A
c.644-2974C>A (n.644-2974C>A)
c.35C>A
14g.94619367C=CA2156074117SERPINA3c.816C= (p.Ala272=)
c.162C= (p.Ala54=)
c.1779C=
n.58-2974C=
c.644-2974C= (n.644-2974C=)
c.35C=
14g.94619367C>GCA487625262SERPINA3c.816C>G (p.Ala272=)
c.162C>G (p.Ala54=)
c.1779C>G
n.58-2974C>G
c.644-2974C>G (n.644-2974C>G)
c.35C>G
14g.94619367C>TCA487625261SERPINA3c.816C>T (p.Ala272=)
c.162C>T (p.Ala54=)
c.1779C>T
n.58-2974C>T
c.644-2974C>T (n.644-2974C>T)
c.35C>T
 dbSNP gnomAD v2
14g.94619368A>CCA390855988SERPINA3c.817A>C (p.Ser273Arg)
c.163A>C (p.Ser55Arg)
c.1780A>C
n.58-2973A>C
c.644-2973A>C (n.644-2973A>C)
c.36A>C
14g.94619368A>GCA390855990SERPINA3c.817A>G (p.Ser273Gly)
c.163A>G (p.Ser55Gly)
c.1780A>G
n.58-2973A>G
c.644-2973A>G (n.644-2973A>G)
c.36A>G
14g.94619368A>TCA390855992SERPINA3c.817A>T (p.Ser273Cys)
c.163A>T (p.Ser55Cys)
c.1780A>T
n.58-2973A>T
c.644-2973A>T (n.644-2973A>T)
c.36A>T
14g.94619369G>ACA390855994SERPINA3c.818G>A (p.Ser273Asn)
c.164G>A (p.Ser55Asn)
c.1781G>A
n.58-2972G>A
c.644-2972G>A (n.644-2972G>A)
c.37G>A
 gnomAD v4
14g.94619369G>CCA390855996SERPINA3c.818G>C (p.Ser273Thr)
c.164G>C (p.Ser55Thr)
c.1781G>C
n.58-2972G>C
c.644-2972G>C (n.644-2972G>C)
c.37G>C
14g.94619369G>TCA390855998SERPINA3c.818G>T (p.Ser273Ile)
c.164G>T (p.Ser55Ile)
c.1781G>T
n.58-2972G>T
c.644-2972G>T (n.644-2972G>T)
c.37G>T
14g.94619370C>ACA7329897SERPINA3c.819C>A (p.Ser273Arg)
c.165C>A (p.Ser55Arg)
c.1782C>A
n.58-2971C>A
c.644-2971C>A (n.644-2971C>A)
c.38C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619370C=CA2156074118SERPINA3c.819C= (p.Ser273=)
c.165C= (p.Ser55=)
c.1782C=
n.58-2971C=
c.644-2971C= (n.644-2971C=)
c.38C=
14g.94619370C>GCA390856002SERPINA3c.819C>G (p.Ser273Arg)
c.165C>G (p.Ser55Arg)
c.1782C>G
n.58-2971C>G
c.644-2971C>G (n.644-2971C>G)
c.38C>G
14g.94619370C>TCA7329896SERPINA3c.819C>T (p.Ser273=)
c.165C>T (p.Ser55=)
c.1782C>T
n.58-2971C>T
c.644-2971C>T (n.644-2971C>T)
c.38C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619371G>ACA7329898SERPINA3c.820G>A (p.Ala274Thr)
c.166G>A (p.Ala56Thr)
c.1783G>A
n.58-2970G>A
c.644-2970G>A (n.644-2970G>A)
c.39G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619371G>CCA390856006SERPINA3c.820G>C (p.Ala274Pro)
c.166G>C (p.Ala56Pro)
c.1783G>C
n.58-2970G>C
c.644-2970G>C (n.644-2970G>C)
c.39G>C
 dbSNP gnomAD v4
14g.94619371G=CA2156074119SERPINA3c.820G= (p.Ala274=)
c.166G= (p.Ala56=)
c.1783G=
n.58-2970G=
c.644-2970G= (n.644-2970G=)
c.39G=
14g.94619371G>TCA390856008SERPINA3c.820G>T (p.Ala274Ser)
c.166G>T (p.Ala56Ser)
c.1783G>T
n.58-2970G>T
c.644-2970G>T (n.644-2970G>T)
c.39G>T
 gnomAD v4
14g.94619372C>ACA390856009SERPINA3c.821C>A (p.Ala274Glu)
c.167C>A (p.Ala56Glu)
c.1784C>A
n.58-2969C>A
c.644-2969C>A (n.644-2969C>A)
c.40C>A
14g.94619372C>GCA390856010SERPINA3c.821C>G (p.Ala274Gly)
c.167C>G (p.Ala56Gly)
c.1784C>G
n.58-2969C>G
c.644-2969C>G (n.644-2969C>G)
c.40C>G
14g.94619372C>TCA390856012SERPINA3c.821C>T (p.Ala274Val)
c.167C>T (p.Ala56Val)
c.1784C>T
n.58-2969C>T
c.644-2969C>T (n.644-2969C>T)
c.40C>T
14g.94619373A=CA2156074120SERPINA3c.822A= (p.Ala274=)
c.168A= (p.Ala56=)
c.1785A=
n.58-2968A=
c.644-2968A= (n.644-2968A=)
c.41A=
14g.94619373A>CCA7329899SERPINA3c.822A>C (p.Ala274=)
c.168A>C (p.Ala56=)
c.1785A>C
n.58-2968A>C
c.644-2968A>C (n.644-2968A>C)
c.41A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619373A>GCA265885163SERPINA3c.822A>G (p.Ala274=)
c.168A>G (p.Ala56=)
c.1785A>G
n.58-2968A>G
c.644-2968A>G (n.644-2968A>G)
c.41A>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619373A>TCA487625263SERPINA3c.822A>T (p.Ala274=)
c.168A>T (p.Ala56=)
c.1785A>T
n.58-2968A>T
c.644-2968A>T (n.644-2968A>T)
c.41A>T
 gnomAD v4
14g.94619374C>ACA390856015SERPINA3c.823C>A (p.Leu275Ile)
c.169C>A (p.Leu57Ile)
c.1786C>A
n.58-2967C>A
c.644-2967C>A (n.644-2967C>A)
c.42C>A
14g.94619374C>GCA390856017SERPINA3c.823C>G (p.Leu275Val)
c.169C>G (p.Leu57Val)
c.1786C>G
n.58-2967C>G
c.644-2967C>G (n.644-2967C>G)
c.42C>G
 COSMIC COSMIC
14g.94619374C>TCA390856019SERPINA3c.823C>T (p.Leu275Phe)
c.169C>T (p.Leu57Phe)
c.1786C>T
n.58-2967C>T
c.644-2967C>T (n.644-2967C>T)
c.42C>T
14g.94619375T>ACA390856021SERPINA3c.824T>A (p.Leu275His)
c.170T>A (p.Leu57His)
c.1787T>A
n.58-2966T>A
c.644-2966T>A (n.644-2966T>A)
c.43T>A
14g.94619375T>CCA390856023SERPINA3c.824T>C (p.Leu275Pro)
c.170T>C (p.Leu57Pro)
c.1787T>C
n.58-2966T>C
c.644-2966T>C (n.644-2966T>C)
c.43T>C
 gnomAD v4
14g.94619375T>GCA390856024SERPINA3c.824T>G (p.Leu275Arg)
c.170T>G (p.Leu57Arg)
c.1787T>G
n.58-2966T>G
c.644-2966T>G (n.644-2966T>G)
c.43T>G
14g.94619376C>ACA487625264SERPINA3c.825C>A (p.Leu275=)
c.171C>A (p.Leu57=)
c.1788C>A
n.58-2965C>A
c.644-2965C>A (n.644-2965C>A)
c.44C>A
14g.94619376C=CA2156074121SERPINA3c.825C= (p.Leu275=)
c.171C= (p.Leu57=)
c.1788C=
n.58-2965C=
c.644-2965C= (n.644-2965C=)
c.44C=
14g.94619376C>GCA7329900SERPINA3c.825C>G (p.Leu275=)
c.171C>G (p.Leu57=)
c.1788C>G
n.58-2965C>G
c.644-2965C>G (n.644-2965C>G)
c.44C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619376C>TCA487625265SERPINA3c.825C>T (p.Leu275=)
c.171C>T (p.Leu57=)
c.1788C>T
n.58-2965C>T
c.644-2965C>T (n.644-2965C>T)
c.44C>T
 dbSNP
14g.94619377T>ACA390856031SERPINA3c.826T>A (p.Phe276Ile)
c.172T>A (p.Phe58Ile)
c.1789T>A
n.58-2964T>A
c.644-2964T>A (n.644-2964T>A)
c.45T>A
14g.94619377T>CCA390856028SERPINA3c.826T>C (p.Phe276Leu)
c.172T>C (p.Phe58Leu)
c.1789T>C
n.58-2964T>C
c.644-2964T>C (n.644-2964T>C)
c.45T>C
14g.94619377T>GCA390856029SERPINA3c.826T>G (p.Phe276Val)
c.172T>G (p.Phe58Val)
c.1789T>G
n.58-2964T>G
c.644-2964T>G (n.644-2964T>G)
c.45T>G
14g.94619378T>ACA390856034SERPINA3c.827T>A (p.Phe276Tyr)
c.173T>A (p.Phe58Tyr)
c.1790T>A
n.58-2963T>A
c.644-2963T>A (n.644-2963T>A)
c.46T>A
14g.94619378T>CCA390856035SERPINA3c.827T>C (p.Phe276Ser)
c.173T>C (p.Phe58Ser)
c.1790T>C
n.58-2963T>C
c.644-2963T>C (n.644-2963T>C)
c.46T>C
14g.94619378T>GCA390856037SERPINA3c.827T>G (p.Phe276Cys)
c.173T>G (p.Phe58Cys)
c.1790T>G
n.58-2963T>G
c.644-2963T>G (n.644-2963T>G)
c.46T>G
14g.94619379C>ACA390856039SERPINA3c.828C>A (p.Phe276Leu)
c.174C>A (p.Phe58Leu)
c.1791C>A
n.58-2962C>A
c.644-2962C>A (n.644-2962C>A)
c.47C>A
14g.94619379C>GCA390856041SERPINA3c.828C>G (p.Phe276Leu)
c.174C>G (p.Phe58Leu)
c.1791C>G
n.58-2962C>G
c.644-2962C>G (n.644-2962C>G)
c.47C>G
14g.94619379C>TCA487625266SERPINA3c.828C>T (p.Phe276=)
c.174C>T (p.Phe58=)
c.1791C>T
n.58-2962C>T
c.644-2962C>T (n.644-2962C>T)
c.47C>T
 gnomAD v4
14g.94619380A=CA2156074122SERPINA3c.829A= (p.Ile277=)
c.175A= (p.Ile59=)
c.1792A=
n.58-2961A=
c.644-2961A= (n.644-2961A=)
c.48A=
14g.94619380A>CCA390856043SERPINA3c.829A>C (p.Ile277Leu)
c.175A>C (p.Ile59Leu)
c.1792A>C
n.58-2961A>C
c.644-2961A>C (n.644-2961A>C)
c.48A>C
14g.94619380A>GCA390856045SERPINA3c.829A>G (p.Ile277Val)
c.175A>G (p.Ile59Val)
c.1792A>G
n.58-2961A>G
c.644-2961A>G (n.644-2961A>G)
c.48A>G
 gnomAD v4
14g.94619380A>TCA7329901SERPINA3c.829A>T (p.Ile277Phe)
c.175A>T (p.Ile59Phe)
c.1792A>T
n.58-2961A>T
c.644-2961A>T (n.644-2961A>T)
c.48A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619381T>ACA390856048SERPINA3c.830T>A (p.Ile277Asn)
c.176T>A (p.Ile59Asn)
c.1793T>A
n.58-2960T>A
c.644-2960T>A (n.644-2960T>A)
c.49T>A
14g.94619381T>CCA390856049SERPINA3c.830T>C (p.Ile277Thr)
c.176T>C (p.Ile59Thr)
c.1793T>C
n.58-2960T>C
c.644-2960T>C (n.644-2960T>C)
c.49T>C
14g.94619381T>GCA390856051SERPINA3c.830T>G (p.Ile277Ser)
c.176T>G (p.Ile59Ser)
c.1793T>G
n.58-2960T>G
c.644-2960T>G (n.644-2960T>G)
c.49T>G
14g.94619382C>ACA487625267SERPINA3c.831C>A (p.Ile277=)
c.177C>A (p.Ile59=)
c.1794C>A
n.58-2959C>A
c.644-2959C>A (n.644-2959C>A)
c.50C>A
14g.94619382C>GCA390856053SERPINA3c.831C>G (p.Ile277Met)
c.177C>G (p.Ile59Met)
c.1794C>G
n.58-2959C>G
c.644-2959C>G (n.644-2959C>G)
c.50C>G
 gnomAD v4
14g.94619382C>TCA487625268SERPINA3c.831C>T (p.Ile277=)
c.177C>T (p.Ile59=)
c.1794C>T
n.58-2959C>T
c.644-2959C>T (n.644-2959C>T)
c.50C>T
14g.94619383C>ACA390856055SERPINA3c.832C>A (p.Leu278Ile)
c.178C>A (p.Leu60Ile)
c.1795C>A
n.58-2958C>A
c.644-2958C>A (n.644-2958C>A)
c.51C>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619383C=CA2156074123SERPINA3c.832C= (p.Leu278=)
c.178C= (p.Leu60=)
c.1795C=
n.58-2958C=
c.644-2958C= (n.644-2958C=)
c.51C=
14g.94619383C>GCA390856058SERPINA3c.832C>G (p.Leu278Val)
c.178C>G (p.Leu60Val)
c.1795C>G
n.58-2958C>G
c.644-2958C>G (n.644-2958C>G)
c.51C>G
14g.94619383C>TCA390856056SERPINA3c.832C>T (p.Leu278Phe)
c.178C>T (p.Leu60Phe)
c.1795C>T
n.58-2958C>T
c.644-2958C>T (n.644-2958C>T)
c.51C>T
 gnomAD v4
14g.94619384T>ACA390856061SERPINA3c.833T>A (p.Leu278His)
c.179T>A (p.Leu60His)
c.1796T>A
n.58-2957T>A
c.644-2957T>A (n.644-2957T>A)
c.52T>A
14g.94619384T>CCA7329902SERPINA3c.833T>C (p.Leu278Pro)
c.179T>C (p.Leu60Pro)
c.1796T>C
n.58-2957T>C
c.644-2957T>C (n.644-2957T>C)
c.52T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619384T>GCA390856063SERPINA3c.833T>G (p.Leu278Arg)
c.179T>G (p.Leu60Arg)
c.1796T>G
n.58-2957T>G
c.644-2957T>G (n.644-2957T>G)
c.52T>G
14g.94619384T=CA2156074124SERPINA3c.833T= (p.Leu278=)
c.179T= (p.Leu60=)
c.1796T=
n.58-2957T=
c.644-2957T= (n.644-2957T=)
c.52T=
14g.94619385C>ACA487625269SERPINA3c.834C>A (p.Leu278=)
c.180C>A (p.Leu60=)
c.1797C>A
n.58-2956C>A
c.644-2956C>A (n.644-2956C>A)
c.53C>A
 gnomAD v4
14g.94619385C=CA2156074125SERPINA3c.834C= (p.Leu278=)
c.180C= (p.Leu60=)
c.1797C=
n.58-2956C=
c.644-2956C= (n.644-2956C=)
c.53C=
14g.94619385C>GCA487625270SERPINA3c.834C>G (p.Leu278=)
c.180C>G (p.Leu60=)
c.1797C>G
n.58-2956C>G
c.644-2956C>G (n.644-2956C>G)
c.53C>G
 gnomAD v4
14g.94619385C>TCA265885183SERPINA3c.834C>T (p.Leu278=)
c.180C>T (p.Leu60=)
c.1797C>T
n.58-2956C>T
c.644-2956C>T (n.644-2956C>T)
c.53C>T
 dbSNP gnomAD v4
14g.94619386C>ACA390856066SERPINA3c.835C>A (p.Pro279Thr)
c.181C>A (p.Pro61Thr)
c.1798C>A
n.58-2955C>A
c.644-2955C>A (n.644-2955C>A)
c.54C>A
14g.94619386C=CA2156074126SERPINA3c.835C= (p.Pro279=)
c.181C= (p.Pro61=)
c.1798C=
n.58-2955C=
c.644-2955C= (n.644-2955C=)
c.54C=
14g.94619386C>GCA390856068SERPINA3c.835C>G (p.Pro279Ala)
c.181C>G (p.Pro61Ala)
c.1798C>G
n.58-2955C>G
c.644-2955C>G (n.644-2955C>G)
c.54C>G
 dbSNP gnomAD v2 gnomAD v4
14g.94619386C>TCA390856070SERPINA3c.835C>T (p.Pro279Ser)
c.181C>T (p.Pro61Ser)
c.1798C>T
n.58-2955C>T
c.644-2955C>T (n.644-2955C>T)
c.54C>T
 COSMIC
14g.94619387C>ACA390856072SERPINA3c.836C>A (p.Pro279His)
c.182C>A (p.Pro61His)
c.1799C>A
n.58-2954C>A
c.644-2954C>A (n.644-2954C>A)
c.55C>A
14g.94619387C>GCA390856075SERPINA3c.836C>G (p.Pro279Arg)
c.182C>G (p.Pro61Arg)
c.1799C>G
n.58-2954C>G
c.644-2954C>G (n.644-2954C>G)
c.55C>G
14g.94619387C>TCA390856076SERPINA3c.836C>T (p.Pro279Leu)
c.182C>T (p.Pro61Leu)
c.1799C>T
n.58-2954C>T
c.644-2954C>T (n.644-2954C>T)
c.55C>T
14g.94619388T>ACA487625273SERPINA3c.837T>A (p.Pro279=)
c.183T>A (p.Pro61=)
c.1800T>A
n.58-2953T>A
c.644-2953T>A (n.644-2953T>A)
c.56T>A
14g.94619388T>CCA487625272SERPINA3c.837T>C (p.Pro279=)
c.183T>C (p.Pro61=)
c.1800T>C
n.58-2953T>C
c.644-2953T>C (n.644-2953T>C)
c.56T>C
14g.94619388T>GCA487625271SERPINA3c.837T>G (p.Pro279=)
c.183T>G (p.Pro61=)
c.1800T>G
n.58-2953T>G
c.644-2953T>G (n.644-2953T>G)
c.56T>G
14g.94619389G>ACA390856082SERPINA3c.838G>A (p.Asp280Asn)
c.184G>A (p.Asp62Asn)
c.1801G>A
n.58-2952G>A
c.644-2952G>A (n.644-2952G>A)
c.57G>A
14g.94619389G>CCA390856081SERPINA3c.838G>C (p.Asp280His)
c.184G>C (p.Asp62His)
c.1801G>C
n.58-2952G>C
c.644-2952G>C (n.644-2952G>C)
c.57G>C
14g.94619389G>TCA390856079SERPINA3c.838G>T (p.Asp280Tyr)
c.184G>T (p.Asp62Tyr)
c.1801G>T
n.58-2952G>T
c.644-2952G>T (n.644-2952G>T)
c.57G>T
 gnomAD v4
14g.94619390A>CCA390856085SERPINA3c.839A>C (p.Asp280Ala)
c.185A>C (p.Asp62Ala)
c.1802A>C
n.58-2951A>C
c.644-2951A>C (n.644-2951A>C)
c.58A>C
14g.94619390A>GCA390856089SERPINA3c.839A>G (p.Asp280Gly)
c.185A>G (p.Asp62Gly)
c.1802A>G
n.58-2951A>G
c.644-2951A>G (n.644-2951A>G)
c.58A>G
14g.94619390A>TCA390856086SERPINA3c.839A>T (p.Asp280Val)
c.185A>T (p.Asp62Val)
c.1802A>T
n.58-2951A>T
c.644-2951A>T (n.644-2951A>T)
c.58A>T
14g.94619391T>ACA390856091SERPINA3c.840T>A (p.Asp280Glu)
c.186T>A (p.Asp62Glu)
c.1803T>A
n.58-2950T>A
c.644-2950T>A (n.644-2950T>A)
c.59T>A
14g.94619391T>CCA487625274SERPINA3c.840T>C (p.Asp280=)
c.186T>C (p.Asp62=)
c.1803T>C
n.58-2950T>C
c.644-2950T>C (n.644-2950T>C)
c.59T>C
14g.94619391T>GCA265885185SERPINA3c.840T>G (p.Asp280Glu)
c.186T>G (p.Asp62Glu)
c.1803T>G
n.58-2950T>G
c.644-2950T>G (n.644-2950T>G)
c.59T>G
 dbSNP
14g.94619391T=CA2156074127SERPINA3c.840T= (p.Asp280=)
c.186T= (p.Asp62=)
c.1803T=
n.58-2950T=
c.644-2950T= (n.644-2950T=)
c.59T=
14g.94619392C>ACA390856093SERPINA3c.841C>A (p.Gln281Lys)
c.187C>A (p.Gln63Lys)
c.1804C>A
n.58-2949C>A
c.644-2949C>A (n.644-2949C>A)
c.60C>A
14g.94619392C=CA2156074128SERPINA3c.841C= (p.Gln281=)
c.187C= (p.Gln63=)
c.1804C=
n.58-2949C=
c.644-2949C= (n.644-2949C=)
c.60C=
14g.94619392C>GCA390856094SERPINA3c.841C>G (p.Gln281Glu)
c.187C>G (p.Gln63Glu)
c.1804C>G
n.58-2949C>G
c.644-2949C>G (n.644-2949C>G)
c.60C>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619392C>TCA390856096SERPINA3c.841C>T (p.Gln281Ter)
c.187C>T (p.Gln63Ter)
c.1804C>T
n.58-2949C>T
c.644-2949C>T (n.644-2949C>T)
c.60C>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619393A=CA2156074129SERPINA3c.842A= (p.Gln281=)
c.188A= (p.Gln63=)
c.1805A=
n.58-2948A=
c.644-2948A= (n.644-2948A=)
c.61A=
14g.94619393A>CCA7329903SERPINA3c.842A>C (p.Gln281Pro)
c.188A>C (p.Gln63Pro)
c.1805A>C
n.58-2948A>C
c.644-2948A>C (n.644-2948A>C)
c.61A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619393A>GCA390856099SERPINA3c.842A>G (p.Gln281Arg)
c.188A>G (p.Gln63Arg)
c.1805A>G
n.58-2948A>G
c.644-2948A>G (n.644-2948A>G)
c.61A>G
14g.94619393A>TCA390856101SERPINA3c.842A>T (p.Gln281Leu)
c.188A>T (p.Gln63Leu)
c.1805A>T
n.58-2948A>T
c.644-2948A>T (n.644-2948A>T)
c.61A>T
14g.94619394A=CA2156074130SERPINA3c.843A= (p.Gln281=)
c.189A= (p.Gln63=)
c.1806A=
n.58-2947A=
c.644-2947A= (n.644-2947A=)
c.62A=
14g.94619394A>CCA390856103SERPINA3c.843A>C (p.Gln281His)
c.189A>C (p.Gln63His)
c.1806A>C
n.58-2947A>C
c.644-2947A>C (n.644-2947A>C)
c.62A>C
14g.94619394A>GCA487625275SERPINA3c.843A>G (p.Gln281=)
c.189A>G (p.Gln63=)
c.1806A>G
n.58-2947A>G
c.644-2947A>G (n.644-2947A>G)
c.62A>G
 gnomAD v4
14g.94619394A>TCA7329904SERPINA3c.843A>T (p.Gln281His)
c.189A>T (p.Gln63His)
c.1806A>T
n.58-2947A>T
c.644-2947A>T (n.644-2947A>T)
c.62A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619395G>ACA390856106SERPINA3c.844G>A (p.Asp282Asn)
c.190G>A (p.Asp64Asn)
c.1807G>A
n.58-2946G>A
c.644-2946G>A (n.644-2946G>A)
c.63G>A
 gnomAD v4
14g.94619395G>CCA390856108SERPINA3c.844G>C (p.Asp282His)
c.190G>C (p.Asp64His)
c.1807G>C
n.58-2946G>C
c.644-2946G>C (n.644-2946G>C)
c.63G>C
14g.94619395G>TCA390856110SERPINA3c.844G>T (p.Asp282Tyr)
c.190G>T (p.Asp64Tyr)
c.1807G>T
n.58-2946G>T
c.644-2946G>T (n.644-2946G>T)
c.63G>T
 gnomAD v4
14g.94619396A>CCA390856116SERPINA3c.845A>C (p.Asp282Ala)
c.191A>C (p.Asp64Ala)
c.1808A>C
n.58-2945A>C
c.644-2945A>C (n.644-2945A>C)
c.64A>C
14g.94619396A>GCA390856114SERPINA3c.845A>G (p.Asp282Gly)
c.191A>G (p.Asp64Gly)
c.1808A>G
n.58-2945A>G
c.644-2945A>G (n.644-2945A>G)
c.64A>G
14g.94619396A>TCA390856112SERPINA3c.845A>T (p.Asp282Val)
c.191A>T (p.Asp64Val)
c.1808A>T
n.58-2945A>T
c.644-2945A>T (n.644-2945A>T)
c.64A>T
14g.94619397C>ACA390856118SERPINA3c.846C>A (p.Asp282Glu)
c.192C>A (p.Asp64Glu)
c.1809C>A
n.58-2944C>A
c.644-2944C>A (n.644-2944C>A)
c.65C>A
14g.94619397C>GCA390856120SERPINA3c.846C>G (p.Asp282Glu)
c.192C>G (p.Asp64Glu)
c.1809C>G
n.58-2944C>G
c.644-2944C>G (n.644-2944C>G)
c.65C>G
14g.94619397C>TCA487625276SERPINA3c.846C>T (p.Asp282=)
c.192C>T (p.Asp64=)
c.1809C>T
n.58-2944C>T
c.644-2944C>T (n.644-2944C>T)
c.65C>T
14g.94619398A>CCA390856122SERPINA3c.847A>C (p.Lys283Gln)
c.193A>C (p.Lys65Gln)
c.1810A>C
n.58-2943A>C
c.644-2943A>C (n.644-2943A>C)
c.66A>C
14g.94619398A>GCA390856124SERPINA3c.847A>G (p.Lys283Glu)
c.193A>G (p.Lys65Glu)
c.1810A>G
n.58-2943A>G
c.644-2943A>G (n.644-2943A>G)
c.66A>G
 gnomAD v4
14g.94619398A>TCA390856126SERPINA3c.847A>T (p.Lys283Ter)
c.193A>T (p.Lys65Ter)
c.1810A>T
n.58-2943A>T
c.644-2943A>T (n.644-2943A>T)
c.66A>T
14g.94619399A>CCA390856128SERPINA3c.848A>C (p.Lys283Thr)
c.194A>C (p.Lys65Thr)
c.1811A>C
n.58-2942A>C
c.644-2942A>C (n.644-2942A>C)
c.67A>C
14g.94619399A>GCA390856130SERPINA3c.848A>G (p.Lys283Arg)
c.194A>G (p.Lys65Arg)
c.1811A>G
n.58-2942A>G
c.644-2942A>G (n.644-2942A>G)
c.67A>G
14g.94619399A>TCA390856132SERPINA3c.848A>T (p.Lys283Met)
c.194A>T (p.Lys65Met)
c.1811A>T
n.58-2942A>T
c.644-2942A>T (n.644-2942A>T)
c.67A>T
14g.94619400G>ACA487625277SERPINA3c.849G>A (p.Lys283=)
c.195G>A (p.Lys65=)
c.1812G>A
n.58-2941G>A
c.644-2941G>A (n.644-2941G>A)
c.68G>A
14g.94619400G>CCA390856134SERPINA3c.849G>C (p.Lys283Asn)
c.195G>C (p.Lys65Asn)
c.1812G>C
n.58-2941G>C
c.644-2941G>C (n.644-2941G>C)
c.68G>C
14g.94619400G>TCA390856136SERPINA3c.849G>T (p.Lys283Asn)
c.195G>T (p.Lys65Asn)
c.1812G>T
n.58-2941G>T
c.644-2941G>T (n.644-2941G>T)
c.68G>T
14g.94619401A=CA2156074131SERPINA3c.850A= (p.Met284=)
c.196A= (p.Met66=)
c.1813A=
n.58-2940A=
c.644-2940A= (n.644-2940A=)
c.69A=
14g.94619401A>CCA390856138SERPINA3c.850A>C (p.Met284Leu)
c.196A>C (p.Met66Leu)
c.1813A>C
n.58-2940A>C
c.644-2940A>C (n.644-2940A>C)
c.69A>C
14g.94619401A>GCA390856140SERPINA3c.850A>G (p.Met284Val)
c.196A>G (p.Met66Val)
c.1813A>G
n.58-2940A>G
c.644-2940A>G (n.644-2940A>G)
c.69A>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619401A>TCA390856142SERPINA3c.850A>T (p.Met284Leu)
c.196A>T (p.Met66Leu)
c.1813A>T
n.58-2940A>T
c.644-2940A>T (n.644-2940A>T)
c.69A>T
14g.94619402T>ACA390856147SERPINA3c.851T>A (p.Met284Lys)
c.197T>A (p.Met66Lys)
c.1814T>A
n.58-2939T>A
c.644-2939T>A (n.644-2939T>A)
c.70T>A
14g.94619402T>CCA390856149SERPINA3c.851T>C (p.Met284Thr)
c.197T>C (p.Met66Thr)
c.1814T>C
n.58-2939T>C
c.644-2939T>C (n.644-2939T>C)
c.70T>C
14g.94619402T>GCA390856145SERPINA3c.851T>G (p.Met284Arg)
c.197T>G (p.Met66Arg)
c.1814T>G
n.58-2939T>G
c.644-2939T>G (n.644-2939T>G)
c.70T>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619402T=CA2156074132SERPINA3c.851T= (p.Met284=)
c.197T= (p.Met66=)
c.1814T=
n.58-2939T=
c.644-2939T= (n.644-2939T=)
c.70T=
14g.94619403G>ACA390856151SERPINA3c.852G>A (p.Met284Ile)
c.198G>A (p.Met66Ile)
c.1815G>A
n.58-2938G>A
c.644-2938G>A (n.644-2938G>A)
c.71G>A
 COSMIC COSMIC
14g.94619403G>CCA390856153SERPINA3c.852G>C (p.Met284Ile)
c.198G>C (p.Met66Ile)
c.1815G>C
n.58-2938G>C
c.644-2938G>C (n.644-2938G>C)
c.71G>C
14g.94619403G>TCA390856155SERPINA3c.852G>T (p.Met284Ile)
c.198G>T (p.Met66Ile)
c.1815G>T
n.58-2938G>T
c.644-2938G>T (n.644-2938G>T)
c.71G>T
14g.94619404G>ACA390856157SERPINA3c.853G>A (p.Glu285Lys)
c.199G>A (p.Glu67Lys)
c.1816G>A
n.58-2937G>A
c.644-2937G>A (n.644-2937G>A)
c.72G>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619404G>CCA390856159SERPINA3c.853G>C (p.Glu285Gln)
c.199G>C (p.Glu67Gln)
c.1816G>C
n.58-2937G>C
c.644-2937G>C (n.644-2937G>C)
c.72G>C
 COSMIC COSMIC
14g.94619404G=CA2156074133SERPINA3c.853G= (p.Glu285=)
c.199G= (p.Glu67=)
c.1816G=
n.58-2937G=
c.644-2937G= (n.644-2937G=)
c.72G=
14g.94619404G>TCA390856161SERPINA3c.853G>T (p.Glu285Ter)
c.199G>T (p.Glu67Ter)
c.1816G>T
n.58-2937G>T
c.644-2937G>T (n.644-2937G>T)
c.72G>T
14g.94619405A>CCA390856162SERPINA3c.854A>C (p.Glu285Ala)
c.200A>C (p.Glu67Ala)
c.1817A>C
n.58-2936A>C
c.644-2936A>C (n.644-2936A>C)
c.73A>C
14g.94619405A>GCA390856164SERPINA3c.854A>G (p.Glu285Gly)
c.200A>G (p.Glu67Gly)
c.1817A>G
n.58-2936A>G
c.644-2936A>G (n.644-2936A>G)
c.73A>G
14g.94619405A>TCA390856166SERPINA3c.854A>T (p.Glu285Val)
c.200A>T (p.Glu67Val)
c.1817A>T
n.58-2936A>T
c.644-2936A>T (n.644-2936A>T)
c.73A>T
14g.94619406G>ACA7329905SERPINA3c.855G>A (p.Glu285=)
c.201G>A (p.Glu67=)
c.1818G>A
n.58-2935G>A
c.644-2935G>A (n.644-2935G>A)
c.74G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619406G>CCA390856169SERPINA3c.855G>C (p.Glu285Asp)
c.201G>C (p.Glu67Asp)
c.1818G>C
n.58-2935G>C
c.644-2935G>C (n.644-2935G>C)
c.74G>C
14g.94619406G=CA2156074134SERPINA3c.855G= (p.Glu285=)
c.201G= (p.Glu67=)
c.1818G=
n.58-2935G=
c.644-2935G= (n.644-2935G=)
c.74G=
14g.94619406G>TCA390856171SERPINA3c.855G>T (p.Glu285Asp)
c.201G>T (p.Glu67Asp)
c.1818G>T
n.58-2935G>T
c.644-2935G>T (n.644-2935G>T)
c.74G>T
14g.94619407G>ACA390856178SERPINA3c.856G>A (p.Glu286Lys)
c.202G>A (p.Glu68Lys)
c.1819G>A
n.58-2934G>A
c.644-2934G>A (n.644-2934G>A)
c.75G>A
 gnomAD v4
14g.94619407G>CCA390856175SERPINA3c.856G>C (p.Glu286Gln)
c.202G>C (p.Glu68Gln)
c.1819G>C
n.58-2934G>C
c.644-2934G>C (n.644-2934G>C)
c.75G>C
14g.94619407G>TCA390856176SERPINA3c.856G>T (p.Glu286Ter)
c.202G>T (p.Glu68Ter)
c.1819G>T
n.58-2934G>T
c.644-2934G>T (n.644-2934G>T)
c.75G>T
14g.94619408A=CA2156074135SERPINA3c.857A= (p.Glu286=)
c.203A= (p.Glu68=)
c.1820A=
n.58-2933A=
c.644-2933A= (n.644-2933A=)
c.76A=
14g.94619408A>CCA390856180SERPINA3c.857A>C (p.Glu286Ala)
c.203A>C (p.Glu68Ala)
c.1820A>C
n.58-2933A>C
c.644-2933A>C (n.644-2933A>C)
c.76A>C
14g.94619408A>GCA390856181SERPINA3c.857A>G (p.Glu286Gly)
c.203A>G (p.Glu68Gly)
c.1820A>G
n.58-2933A>G
c.644-2933A>G (n.644-2933A>G)
c.76A>G
14g.94619408A>TCA265885192SERPINA3c.857A>T (p.Glu286Val)
c.203A>T (p.Glu68Val)
c.1820A>T
n.58-2933A>T
c.644-2933A>T (n.644-2933A>T)
c.76A>T
 dbSNP
14g.94619409A>CCA390856183SERPINA3c.858A>C (p.Glu286Asp)
c.204A>C (p.Glu68Asp)
c.1821A>C
n.58-2932A>C
c.644-2932A>C (n.644-2932A>C)
c.77A>C
14g.94619409A>GCA487625278SERPINA3c.858A>G (p.Glu286=)
c.204A>G (p.Glu68=)
c.1821A>G
n.58-2932A>G
c.644-2932A>G (n.644-2932A>G)
c.77A>G
14g.94619409A>TCA390856185SERPINA3c.858A>T (p.Glu286Asp)
c.204A>T (p.Glu68Asp)
c.1821A>T
n.58-2932A>T
c.644-2932A>T (n.644-2932A>T)
c.77A>T
14g.94619410G>ACA390856188SERPINA3c.859G>A (p.Val287Met)
c.205G>A (p.Val69Met)
c.1822G>A
n.58-2931G>A
c.644-2931G>A (n.644-2931G>A)
c.78G>A
 dbSNP gnomAD v2 gnomAD v4
14g.94619410G>CCA390856190SERPINA3c.859G>C (p.Val287Leu)
c.205G>C (p.Val69Leu)
c.1822G>C
n.58-2931G>C
c.644-2931G>C (n.644-2931G>C)
c.78G>C
14g.94619410G=CA2156074136SERPINA3c.859G= (p.Val287=)
c.205G= (p.Val69=)
c.1822G=
n.58-2931G=
c.644-2931G= (n.644-2931G=)
c.78G=
14g.94619410G>TCA390856191SERPINA3c.859G>T (p.Val287Leu)
c.205G>T (p.Val69Leu)
c.1822G>T
n.58-2931G>T
c.644-2931G>T (n.644-2931G>T)
c.78G>T
14g.94619411T>ACA390856194SERPINA3c.860T>A (p.Val287Glu)
c.206T>A (p.Val69Glu)
c.1823T>A
n.58-2930T>A
c.644-2930T>A (n.644-2930T>A)
c.79T>A
14g.94619411T>CCA390856196SERPINA3c.860T>C (p.Val287Ala)
c.206T>C (p.Val69Ala)
c.1823T>C
n.58-2930T>C
c.644-2930T>C (n.644-2930T>C)
c.79T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619411T>GCA390856197SERPINA3c.860T>G (p.Val287Gly)
c.206T>G (p.Val69Gly)
c.1823T>G
n.58-2930T>G
c.644-2930T>G (n.644-2930T>G)
c.79T>G
 dbSNP
14g.94619411T=CA2156074137SERPINA3c.860T= (p.Val287=)
c.206T= (p.Val69=)
c.1823T=
n.58-2930T=
c.644-2930T= (n.644-2930T=)
c.79T=
14g.94619412G>ACA265885200SERPINA3c.861G>A (p.Val287=)
c.207G>A (p.Val69=)
c.1824G>A
n.58-2929G>A
c.644-2929G>A (n.644-2929G>A)
c.80G>A
 dbSNP gnomAD v4 COSMIC COSMIC
14g.94619412G>CCA487625279SERPINA3c.861G>C (p.Val287=)
c.207G>C (p.Val69=)
c.1824G>C
n.58-2929G>C
c.644-2929G>C (n.644-2929G>C)
c.80G>C
14g.94619412G=CA2156074138SERPINA3c.861G= (p.Val287=)
c.207G= (p.Val69=)
c.1824G=
n.58-2929G=
c.644-2929G= (n.644-2929G=)
c.80G=
14g.94619412G>TCA487625280SERPINA3c.861G>T (p.Val287=)
c.207G>T (p.Val69=)
c.1824G>T
n.58-2929G>T
c.644-2929G>T (n.644-2929G>T)
c.80G>T
14g.94619413G>ACA7329906SERPINA3c.862G>A (p.Glu288Lys)
c.208G>A (p.Glu70Lys)
c.1825G>A
n.58-2928G>A
c.644-2928G>A (n.644-2928G>A)
c.81G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619413G>CCA390856202SERPINA3c.862G>C (p.Glu288Gln)
c.208G>C (p.Glu70Gln)
c.1825G>C
n.58-2928G>C
c.644-2928G>C (n.644-2928G>C)
c.81G>C
14g.94619413G=CA2156074139SERPINA3c.862G= (p.Glu288=)
c.208G= (p.Glu70=)
c.1825G=
n.58-2928G=
c.644-2928G= (n.644-2928G=)
c.81G=
14g.94619413G>TCA390856200SERPINA3c.862G>T (p.Glu288Ter)
c.208G>T (p.Glu70Ter)
c.1825G>T
n.58-2928G>T
c.644-2928G>T (n.644-2928G>T)
c.81G>T
14g.94619414A=CA2156074140SERPINA3c.863A= (p.Glu288=)
c.209A= (p.Glu70=)
c.1826A=
n.58-2927A=
c.644-2927A= (n.644-2927A=)
c.82A=
14g.94619414A>CCA390856205SERPINA3c.863A>C (p.Glu288Ala)
c.209A>C (p.Glu70Ala)
c.1826A>C
n.58-2927A>C
c.644-2927A>C (n.644-2927A>C)
c.82A>C
14g.94619414A>GCA265885204SERPINA3c.863A>G (p.Glu288Gly)
c.209A>G (p.Glu70Gly)
c.1826A>G
n.58-2927A>G
c.644-2927A>G (n.644-2927A>G)
c.82A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619414A>TCA390856208SERPINA3c.863A>T (p.Glu288Val)
c.209A>T (p.Glu70Val)
c.1826A>T
n.58-2927A>T
c.644-2927A>T (n.644-2927A>T)
c.82A>T
14g.94619415A>CCA390856210SERPINA3c.864A>C (p.Glu288Asp)
c.210A>C (p.Glu70Asp)
c.1827A>C
n.58-2926A>C
c.644-2926A>C (n.644-2926A>C)
c.83A>C
14g.94619415A>GCA487625281SERPINA3c.864A>G (p.Glu288=)
c.210A>G (p.Glu70=)
c.1827A>G
n.58-2926A>G
c.644-2926A>G (n.644-2926A>G)
c.83A>G
14g.94619415A>TCA390856212SERPINA3c.864A>T (p.Glu288Asp)
c.210A>T (p.Glu70Asp)
c.1827A>T
n.58-2926A>T
c.644-2926A>T (n.644-2926A>T)
c.83A>T
 gnomAD v4
14g.94619416G>ACA390856214SERPINA3c.865G>A (p.Ala289Thr)
c.211G>A (p.Ala71Thr)
c.1828G>A
n.58-2925G>A
c.644-2925G>A (n.644-2925G>A)
c.84G>A
 gnomAD v4
14g.94619416G>CCA390856215SERPINA3c.865G>C (p.Ala289Pro)
c.211G>C (p.Ala71Pro)
c.1828G>C
n.58-2925G>C
c.644-2925G>C (n.644-2925G>C)
c.84G>C
14g.94619416G>TCA390856218SERPINA3c.865G>T (p.Ala289Ser)
c.211G>T (p.Ala71Ser)
c.1828G>T
n.58-2925G>T
c.644-2925G>T (n.644-2925G>T)
c.84G>T
14g.94619417C>ACA390856220SERPINA3c.866C>A (p.Ala289Asp)
c.212C>A (p.Ala71Asp)
c.1829C>A
n.58-2924C>A
c.644-2924C>A (n.644-2924C>A)
c.85C>A
14g.94619417C>GCA390856222SERPINA3c.866C>G (p.Ala289Gly)
c.212C>G (p.Ala71Gly)
c.1829C>G
n.58-2924C>G
c.644-2924C>G (n.644-2924C>G)
c.85C>G
14g.94619417C>TCA390856224SERPINA3c.866C>T (p.Ala289Val)
c.212C>T (p.Ala71Val)
c.1829C>T
n.58-2924C>T
c.644-2924C>T (n.644-2924C>T)
c.85C>T
14g.94619418C>ACA487625282SERPINA3c.867C>A (p.Ala289=)
c.213C>A (p.Ala71=)
c.1830C>A
n.58-2923C>A
c.644-2923C>A (n.644-2923C>A)
c.86C>A
14g.94619418C=CA2156074141SERPINA3c.867C= (p.Ala289=)
c.213C= (p.Ala71=)
c.1830C=
n.58-2923C=
c.644-2923C= (n.644-2923C=)
c.86C=
14g.94619418C>GCA7329908SERPINA3c.867C>G (p.Ala289=)
c.213C>G (p.Ala71=)
c.1830C>G
n.58-2923C>G
c.644-2923C>G (n.644-2923C>G)
c.86C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619418C>TCA7329907SERPINA3c.867C>T (p.Ala289=)
c.213C>T (p.Ala71=)
c.1830C>T
n.58-2923C>T
c.644-2923C>T (n.644-2923C>T)
c.86C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619419A=CA2156074142SERPINA3c.868A= (p.Met290=)
c.214A= (p.Met72=)
c.1831A=
n.58-2922A=
c.644-2922A= (n.644-2922A=)
c.87A=
14g.94619419A>CCA265885236SERPINA3c.868A>C (p.Met290Leu)
c.214A>C (p.Met72Leu)
c.1831A>C
n.58-2922A>C
c.644-2922A>C (n.644-2922A>C)
c.87A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619419A>GCA390856228SERPINA3c.868A>G (p.Met290Val)
c.214A>G (p.Met72Val)
c.1831A>G
n.58-2922A>G
c.644-2922A>G (n.644-2922A>G)
c.87A>G
 dbSNP
14g.94619419A>TCA7329909SERPINA3c.868A>T (p.Met290Leu)
c.214A>T (p.Met72Leu)
c.1831A>T
n.58-2922A>T
c.644-2922A>T (n.644-2922A>T)
c.87A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619419_94619420delinsCACA645581952SERPINA3c.868_869delinsCA (p.Met290Gln)
c.214_215delinsCA (p.Met72Gln)
c.1831_1832delinsCA
n.58-2922_58-2921delinsCA
c.644-2922_644-2921delinsCA (n.644-2922_644-2921delinsCA)
c.87_88delinsCA
 COSMIC COSMIC
14g.94619420T>ACA265885258SERPINA3c.869T>A (p.Met290Lys)
c.215T>A (p.Met72Lys)
c.1832T>A
n.58-2921T>A
c.644-2921T>A (n.644-2921T>A)
c.88T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619420T>CCA390856230SERPINA3c.869T>C (p.Met290Thr)
c.215T>C (p.Met72Thr)
c.1832T>C
n.58-2921T>C
c.644-2921T>C (n.644-2921T>C)
c.88T>C
14g.94619420T>GCA390856232SERPINA3c.869T>G (p.Met290Arg)
c.215T>G (p.Met72Arg)
c.1832T>G
n.58-2921T>G
c.644-2921T>G (n.644-2921T>G)
c.88T>G
14g.94619420T=CA2156074143SERPINA3c.869T= (p.Met290=)
c.215T= (p.Met72=)
c.1832T=
n.58-2921T=
c.644-2921T= (n.644-2921T=)
c.88T=
14g.94619421G>ACA390856235SERPINA3c.870G>A (p.Met290Ile)
c.216G>A (p.Met72Ile)
c.1833G>A
n.58-2920G>A
c.644-2920G>A (n.644-2920G>A)
c.89G>A
 dbSNP
14g.94619421G>CCA390856236SERPINA3c.870G>C (p.Met290Ile)
c.216G>C (p.Met72Ile)
c.1833G>C
n.58-2920G>C
c.644-2920G>C (n.644-2920G>C)
c.89G>C
 gnomAD v4
14g.94619421G=CA2156074144SERPINA3c.870G= (p.Met290=)
c.216G= (p.Met72=)
c.1833G=
n.58-2920G=
c.644-2920G= (n.644-2920G=)
c.89G=
14g.94619421G>TCA7329910SERPINA3c.870G>T (p.Met290Ile)
c.216G>T (p.Met72Ile)
c.1833G>T
n.58-2920G>T
c.644-2920G>T (n.644-2920G>T)
c.89G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619422C>ACA390856239SERPINA3c.871C>A (p.Leu291Met)
c.217C>A (p.Leu73Met)
c.1834C>A
n.58-2919C>A
c.644-2919C>A (n.644-2919C>A)
c.90C>A
14g.94619422C=CA2156074145SERPINA3c.871C= (p.Leu291=)
c.217C= (p.Leu73=)
c.1834C=
n.58-2919C=
c.644-2919C= (n.644-2919C=)
c.90C=
14g.94619422C>GCA390856241SERPINA3c.871C>G (p.Leu291Val)
c.217C>G (p.Leu73Val)
c.1834C>G
n.58-2919C>G
c.644-2919C>G (n.644-2919C>G)
c.90C>G
 dbSNP gnomAD v4
14g.94619422C>TCA487625283SERPINA3c.871C>T (p.Leu291=)
c.217C>T (p.Leu73=)
c.1834C>T
n.58-2919C>T
c.644-2919C>T (n.644-2919C>T)
c.90C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619423T>ACA390856244SERPINA3c.872T>A (p.Leu291Gln)
c.218T>A (p.Leu73Gln)
c.1835T>A
n.58-2918T>A
c.644-2918T>A (n.644-2918T>A)
c.91T>A
14g.94619423T>CCA390856245SERPINA3c.872T>C (p.Leu291Pro)
c.218T>C (p.Leu73Pro)
c.1835T>C
n.58-2918T>C
c.644-2918T>C (n.644-2918T>C)
c.91T>C
14g.94619423T>GCA390856247SERPINA3c.872T>G (p.Leu291Arg)
c.218T>G (p.Leu73Arg)
c.1835T>G
n.58-2918T>G
c.644-2918T>G (n.644-2918T>G)
c.91T>G
14g.94619424G>ACA487625284SERPINA3c.873G>A (p.Leu291=)
c.219G>A (p.Leu73=)
c.1836G>A
n.58-2917G>A
c.644-2917G>A (n.644-2917G>A)
c.92G>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619424G>CCA487625285SERPINA3c.873G>C (p.Leu291=)
c.219G>C (p.Leu73=)
c.1836G>C
n.58-2917G>C
c.644-2917G>C (n.644-2917G>C)
c.92G>C
14g.94619424G=CA2156074146SERPINA3c.873G= (p.Leu291=)
c.219G= (p.Leu73=)
c.1836G=
n.58-2917G=
c.644-2917G= (n.644-2917G=)
c.92G=
14g.94619424G>TCA487625286SERPINA3c.873G>T (p.Leu291=)
c.219G>T (p.Leu73=)
c.1836G>T
n.58-2917G>T
c.644-2917G>T (n.644-2917G>T)
c.92G>T
14g.94619425C>ACA390856249SERPINA3c.874C>A (p.Leu292Ile)
c.220C>A (p.Leu74Ile)
c.1837C>A
n.58-2916C>A
c.644-2916C>A (n.644-2916C>A)
c.93C>A
14g.94619425C=CA2156074147SERPINA3c.874C= (p.Leu292=)
c.220C= (p.Leu74=)
c.1837C=
n.58-2916C=
c.644-2916C= (n.644-2916C=)
c.93C=
14g.94619425C>GCA390856251SERPINA3c.874C>G (p.Leu292Val)
c.220C>G (p.Leu74Val)
c.1837C>G
n.58-2916C>G
c.644-2916C>G (n.644-2916C>G)
c.93C>G
14g.94619425C>TCA390856253SERPINA3c.874C>T (p.Leu292Phe)
c.220C>T (p.Leu74Phe)
c.1837C>T
n.58-2916C>T
c.644-2916C>T (n.644-2916C>T)
c.93C>T
 dbSNP
14g.94619426T>ACA390856257SERPINA3c.875T>A (p.Leu292His)
c.221T>A (p.Leu74His)
c.1838T>A
n.58-2915T>A
c.644-2915T>A (n.644-2915T>A)
c.94T>A
 gnomAD v4
14g.94619426T>CCA390856258SERPINA3c.875T>C (p.Leu292Pro)
c.221T>C (p.Leu74Pro)
c.1838T>C
n.58-2915T>C
c.644-2915T>C (n.644-2915T>C)
c.94T>C
 gnomAD v4
14g.94619426T>GCA390856255SERPINA3c.875T>G (p.Leu292Arg)
c.221T>G (p.Leu74Arg)
c.1838T>G
n.58-2915T>G
c.644-2915T>G (n.644-2915T>G)
c.94T>G
 gnomAD v4
14g.94619427C>ACA7329911SERPINA3c.876C>A (p.Leu292=)
c.222C>A (p.Leu74=)
c.1839C>A
n.58-2914C>A
c.644-2914C>A (n.644-2914C>A)
c.95C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619427C=CA2156074148SERPINA3c.876C= (p.Leu292=)
c.222C= (p.Leu74=)
c.1839C=
n.58-2914C=
c.644-2914C= (n.644-2914C=)
c.95C=
14g.94619427C>GCA487625287SERPINA3c.876C>G (p.Leu292=)
c.222C>G (p.Leu74=)
c.1839C>G
n.58-2914C>G
c.644-2914C>G (n.644-2914C>G)
c.95C>G
14g.94619427C>TCA487625288SERPINA3c.876C>T (p.Leu292=)
c.222C>T (p.Leu74=)
c.1839C>T
n.58-2914C>T
c.644-2914C>T (n.644-2914C>T)
c.95C>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619427_94619428insTGGCA2626330357SERPINA3c.876_877insTGG (p.Leu292_Pro293insTrp)
c.222_223insTGG (p.Leu74_Pro75insTrp)
c.1839_1840insTGG
n.58-2914_58-2913insTGG
c.644-2914_644-2913insTGG (n.644-2914_644-2913insTGG)
c.95_96insTGG
 gnomAD v4
14g.94619428C>ACA390856261SERPINA3c.877C>A (p.Pro293Thr)
c.223C>A (p.Pro75Thr)
c.1840C>A
n.58-2913C>A
c.644-2913C>A (n.644-2913C>A)
c.96C>A
14g.94619428C>GCA390856263SERPINA3c.877C>G (p.Pro293Ala)
c.223C>G (p.Pro75Ala)
c.1840C>G
n.58-2913C>G
c.644-2913C>G (n.644-2913C>G)
c.96C>G
14g.94619428C>TCA390856265SERPINA3c.877C>T (p.Pro293Ser)
c.223C>T (p.Pro75Ser)
c.1840C>T
n.58-2913C>T
c.644-2913C>T (n.644-2913C>T)
c.96C>T
14g.94619429C>ACA390856267SERPINA3c.878C>A (p.Pro293Gln)
c.224C>A (p.Pro75Gln)
c.1841C>A
n.58-2912C>A
c.644-2912C>A (n.644-2912C>A)
c.97C>A
14g.94619429C=CA2156074149SERPINA3c.878C= (p.Pro293=)
c.224C= (p.Pro75=)
c.1841C=
n.58-2912C=
c.644-2912C= (n.644-2912C=)
c.97C=
14g.94619429C>GCA390856269SERPINA3c.878C>G (p.Pro293Arg)
c.224C>G (p.Pro75Arg)
c.1841C>G
n.58-2912C>G
c.644-2912C>G (n.644-2912C>G)
c.97C>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619429C>TCA390856270SERPINA3c.878C>T (p.Pro293Leu)
c.224C>T (p.Pro75Leu)
c.1841C>T
n.58-2912C>T
c.644-2912C>T (n.644-2912C>T)
c.97C>T
14g.94619430A>CCA487625291SERPINA3c.879A>C (p.Pro293=)
c.225A>C (p.Pro75=)
c.1842A>C
n.58-2911A>C
c.644-2911A>C (n.644-2911A>C)
c.98A>C
 gnomAD v4
14g.94619430A>GCA487625290SERPINA3c.879A>G (p.Pro293=)
c.225A>G (p.Pro75=)
c.1842A>G
n.58-2911A>G
c.644-2911A>G (n.644-2911A>G)
c.98A>G
14g.94619430A>TCA487625289SERPINA3c.879A>T (p.Pro293=)
c.225A>T (p.Pro75=)
c.1842A>T
n.58-2911A>T
c.644-2911A>T (n.644-2911A>T)
c.98A>T
 gnomAD v4
14g.94619431G>ACA390856272SERPINA3c.880G>A (p.Glu294Lys)
c.226G>A (p.Glu76Lys)
c.1843G>A
n.58-2910G>A
c.644-2910G>A (n.644-2910G>A)
c.99G>A
 COSMIC COSMIC
14g.94619431G>CCA390856274SERPINA3c.880G>C (p.Glu294Gln)
c.226G>C (p.Glu76Gln)
c.1843G>C
n.58-2910G>C
c.644-2910G>C (n.644-2910G>C)
c.99G>C
14g.94619431G>TCA390856276SERPINA3c.880G>T (p.Glu294Ter)
c.226G>T (p.Glu76Ter)
c.1843G>T
n.58-2910G>T
c.644-2910G>T (n.644-2910G>T)
c.99G>T
14g.94619432A>CCA390856278SERPINA3c.881A>C (p.Glu294Ala)
c.227A>C (p.Glu76Ala)
c.1844A>C
n.58-2909A>C
c.644-2909A>C (n.644-2909A>C)
c.100A>C
14g.94619432A>GCA390856279SERPINA3c.881A>G (p.Glu294Gly)
c.227A>G (p.Glu76Gly)
c.1844A>G
n.58-2909A>G
c.644-2909A>G (n.644-2909A>G)
c.100A>G
 gnomAD v4
14g.94619432A>TCA390856280SERPINA3c.881A>T (p.Glu294Val)
c.227A>T (p.Glu76Val)
c.1844A>T
n.58-2909A>T
c.644-2909A>T (n.644-2909A>T)
c.100A>T
14g.94619433G>ACA487625292SERPINA3c.882G>A (p.Glu294=)
c.228G>A (p.Glu76=)
c.1845G>A
n.58-2908G>A
c.644-2908G>A (n.644-2908G>A)
c.101G>A
14g.94619433G>CCA390856284SERPINA3c.882G>C (p.Glu294Asp)
c.228G>C (p.Glu76Asp)
c.1845G>C
n.58-2908G>C
c.644-2908G>C (n.644-2908G>C)
c.101G>C
14g.94619433G>TCA390856283SERPINA3c.882G>T (p.Glu294Asp)
c.228G>T (p.Glu76Asp)
c.1845G>T
n.58-2908G>T
c.644-2908G>T (n.644-2908G>T)
c.101G>T
14g.94619434A>CCA390856286SERPINA3c.883A>C (p.Thr295Pro)
c.229A>C (p.Thr77Pro)
c.1846A>C
n.58-2907A>C
c.644-2907A>C (n.644-2907A>C)
c.102A>C
14g.94619434A>GCA390856288SERPINA3c.883A>G (p.Thr295Ala)
c.229A>G (p.Thr77Ala)
c.1846A>G
n.58-2907A>G
c.644-2907A>G (n.644-2907A>G)
c.102A>G
14g.94619434A>TCA390856290SERPINA3c.883A>T (p.Thr295Ser)
c.229A>T (p.Thr77Ser)
c.1846A>T
n.58-2907A>T
c.644-2907A>T (n.644-2907A>T)
c.102A>T
14g.94619435C>ACA390856292SERPINA3c.884C>A (p.Thr295Asn)
c.230C>A (p.Thr77Asn)
c.1847C>A
n.58-2906C>A
c.644-2906C>A (n.644-2906C>A)
c.103C>A
 dbSNP gnomAD v4
14g.94619435C=CA2156074150SERPINA3c.884C= (p.Thr295=)
c.230C= (p.Thr77=)
c.1847C=
n.58-2906C=
c.644-2906C= (n.644-2906C=)
c.103C=
14g.94619435C>GCA390856294SERPINA3c.884C>G (p.Thr295Ser)
c.230C>G (p.Thr77Ser)
c.1847C>G
n.58-2906C>G
c.644-2906C>G (n.644-2906C>G)
c.103C>G
14g.94619435C>TCA390856296SERPINA3c.884C>T (p.Thr295Ile)
c.230C>T (p.Thr77Ile)
c.1847C>T
n.58-2906C>T
c.644-2906C>T (n.644-2906C>T)
c.103C>T
 gnomAD v4
14g.94619436C>ACA487625293SERPINA3c.885C>A (p.Thr295=)
c.231C>A (p.Thr77=)
c.1848C>A
n.58-2905C>A
c.644-2905C>A (n.644-2905C>A)
c.104C>A
 gnomAD v4
14g.94619436C=CA2156074151SERPINA3c.885C= (p.Thr295=)
c.231C= (p.Thr77=)
c.1848C=
n.58-2905C=
c.644-2905C= (n.644-2905C=)
c.104C=
14g.94619436C>GCA487625294SERPINA3c.885C>G (p.Thr295=)
c.231C>G (p.Thr77=)
c.1848C>G
n.58-2905C>G
c.644-2905C>G (n.644-2905C>G)
c.104C>G
 dbSNP gnomAD v2 gnomAD v4
14g.94619436C>TCA7329912SERPINA3c.885C>T (p.Thr295=)
c.231C>T (p.Thr77=)
c.1848C>T
n.58-2905C>T
c.644-2905C>T (n.644-2905C>T)
c.104C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619437C>ACA390856299SERPINA3c.886C>A (p.Leu296Met)
c.232C>A (p.Leu78Met)
c.1849C>A
n.58-2904C>A
c.644-2904C>A (n.644-2904C>A)
c.105C>A
14g.94619437C>GCA390856301SERPINA3c.886C>G (p.Leu296Val)
c.232C>G (p.Leu78Val)
c.1849C>G
n.58-2904C>G
c.644-2904C>G (n.644-2904C>G)
c.105C>G
14g.94619437C>TCA487625295SERPINA3c.886C>T (p.Leu296=)
c.232C>T (p.Leu78=)
c.1849C>T
n.58-2904C>T
c.644-2904C>T (n.644-2904C>T)
c.105C>T
14g.94619438T>ACA390856303SERPINA3c.887T>A (p.Leu296Gln)
c.233T>A (p.Leu78Gln)
c.1850T>A
n.58-2903T>A
c.644-2903T>A (n.644-2903T>A)
c.106T>A
14g.94619438T>CCA390856304SERPINA3c.887T>C (p.Leu296Pro)
c.233T>C (p.Leu78Pro)
c.1850T>C
n.58-2903T>C
c.644-2903T>C (n.644-2903T>C)
c.106T>C
14g.94619438T>GCA390856306SERPINA3c.887T>G (p.Leu296Arg)
c.233T>G (p.Leu78Arg)
c.1850T>G
n.58-2903T>G
c.644-2903T>G (n.644-2903T>G)
c.106T>G
14g.94619439G>ACA487625296SERPINA3c.888G>A (p.Leu296=)
c.234G>A (p.Leu78=)
c.1851G>A
n.58-2902G>A
c.644-2902G>A (n.644-2902G>A)
c.107G>A
14g.94619439G>CCA487625297SERPINA3c.888G>C (p.Leu296=)
c.234G>C (p.Leu78=)
c.1851G>C
n.58-2902G>C
c.644-2902G>C (n.644-2902G>C)
c.107G>C
14g.94619439G>TCA487625298SERPINA3c.888G>T (p.Leu296=)
c.234G>T (p.Leu78=)
c.1851G>T
n.58-2902G>T
c.644-2902G>T (n.644-2902G>T)
c.107G>T
14g.94619440A>CCA390856308SERPINA3c.889A>C (p.Lys297Gln)
c.235A>C (p.Lys79Gln)
c.1852A>C
n.58-2901A>C
c.644-2901A>C (n.644-2901A>C)
c.108A>C
14g.94619440A>GCA390856312SERPINA3c.889A>G (p.Lys297Glu)
c.235A>G (p.Lys79Glu)
c.1852A>G
n.58-2901A>G
c.644-2901A>G (n.644-2901A>G)
c.108A>G
14g.94619440A>TCA390856309SERPINA3c.889A>T (p.Lys297Ter)
c.235A>T (p.Lys79Ter)
c.1852A>T
n.58-2901A>T
c.644-2901A>T (n.644-2901A>T)
c.108A>T
14g.94619441A>CCA390856315SERPINA3c.890A>C (p.Lys297Thr)
c.236A>C (p.Lys79Thr)
c.1853A>C
n.58-2900A>C
c.644-2900A>C (n.644-2900A>C)
c.109A>C
14g.94619441A>GCA390856318SERPINA3c.890A>G (p.Lys297Arg)
c.236A>G (p.Lys79Arg)
c.1853A>G
n.58-2900A>G
c.644-2900A>G (n.644-2900A>G)
c.109A>G
14g.94619441A>TCA390856317SERPINA3c.890A>T (p.Lys297Met)
c.236A>T (p.Lys79Met)
c.1853A>T
n.58-2900A>T
c.644-2900A>T (n.644-2900A>T)
c.109A>T
14g.94619442G>ACA487625299SERPINA3c.891G>A (p.Lys297=)
c.237G>A (p.Lys79=)
c.1854G>A
n.58-2899G>A
c.644-2899G>A (n.644-2899G>A)
c.110G>A
 gnomAD v4
14g.94619442G>CCA7329913SERPINA3c.891G>C (p.Lys297Asn)
c.237G>C (p.Lys79Asn)
c.1854G>C
n.58-2899G>C
c.644-2899G>C (n.644-2899G>C)
c.110G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619442G=CA2156074152SERPINA3c.891G= (p.Lys297=)
c.237G= (p.Lys79=)
c.1854G=
n.58-2899G=
c.644-2899G= (n.644-2899G=)
c.110G=
14g.94619442G>TCA390856322SERPINA3c.891G>T (p.Lys297Asn)
c.237G>T (p.Lys79Asn)
c.1854G>T
n.58-2899G>T
c.644-2899G>T (n.644-2899G>T)
c.110G>T
14g.94619443C>ACA7329915SERPINA3c.892C>A (p.Arg298=)
c.238C>A (p.Arg80=)
c.1855C>A
n.58-2898C>A
c.644-2898C>A (n.644-2898C>A)
c.111C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619443C=CA2156074153SERPINA3c.892C= (p.Arg298=)
c.238C= (p.Arg80=)
c.1855C=
n.58-2898C=
c.644-2898C= (n.644-2898C=)
c.111C=
14g.94619443C>GCA390856326SERPINA3c.892C>G (p.Arg298Gly)
c.238C>G (p.Arg80Gly)
c.1855C>G
n.58-2898C>G
c.644-2898C>G (n.644-2898C>G)
c.111C>G
14g.94619443C>TCA7329914SERPINA3c.892C>T (p.Arg298Trp)
c.238C>T (p.Arg80Trp)
c.1855C>T
n.58-2898C>T
c.644-2898C>T (n.644-2898C>T)
c.111C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619444G>ACA7329916SERPINA3c.893G>A (p.Arg298Gln)
c.239G>A (p.Arg80Gln)
c.1856G>A
n.58-2897G>A
c.644-2897G>A (n.644-2897G>A)
c.112G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619444G>CCA390856331SERPINA3c.893G>C (p.Arg298Pro)
c.239G>C (p.Arg80Pro)
c.1856G>C
n.58-2897G>C
c.644-2897G>C (n.644-2897G>C)
c.112G>C
14g.94619444G=CA2156074154SERPINA3c.893G= (p.Arg298=)
c.239G= (p.Arg80=)
c.1856G=
n.58-2897G=
c.644-2897G= (n.644-2897G=)
c.112G=
14g.94619444G>TCA390856329SERPINA3c.893G>T (p.Arg298Leu)
c.239G>T (p.Arg80Leu)
c.1856G>T
n.58-2897G>T
c.644-2897G>T (n.644-2897G>T)
c.112G>T
14g.94619445G>ACA487625300SERPINA3c.894G>A (p.Arg298=)
c.240G>A (p.Arg80=)
c.1857G>A
n.58-2896G>A
c.644-2896G>A (n.644-2896G>A)
c.113G>A
14g.94619445G>CCA487625301SERPINA3c.894G>C (p.Arg298=)
c.240G>C (p.Arg80=)
c.1857G>C
n.58-2896G>C
c.644-2896G>C (n.644-2896G>C)
c.113G>C
 dbSNP
14g.94619445G=CA2156074155SERPINA3c.894G= (p.Arg298=)
c.240G= (p.Arg80=)
c.1857G=
n.58-2896G=
c.644-2896G= (n.644-2896G=)
c.113G=
14g.94619445G>TCA487625302SERPINA3c.894G>T (p.Arg298=)
c.240G>T (p.Arg80=)
c.1857G>T
n.58-2896G>T
c.644-2896G>T (n.644-2896G>T)
c.113G>T
 gnomAD v4
14g.94619446T>ACA390856333SERPINA3c.895T>A (p.Trp299Arg)
c.241T>A (p.Trp81Arg)
c.1858T>A
n.58-2895T>A
c.644-2895T>A (n.644-2895T>A)
c.114T>A
 gnomAD v4
14g.94619446T>CCA390856334SERPINA3c.895T>C (p.Trp299Arg)
c.241T>C (p.Trp81Arg)
c.1858T>C
n.58-2895T>C
c.644-2895T>C (n.644-2895T>C)
c.114T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619446T>GCA390856336SERPINA3c.895T>G (p.Trp299Gly)
c.241T>G (p.Trp81Gly)
c.1858T>G
n.58-2895T>G
c.644-2895T>G (n.644-2895T>G)
c.114T>G
 dbSNP
14g.94619446T=CA2156074156SERPINA3c.895T= (p.Trp299=)
c.241T= (p.Trp81=)
c.1858T=
n.58-2895T=
c.644-2895T= (n.644-2895T=)
c.114T=
14g.94619447G>ACA390856337SERPINA3c.896G>A (p.Trp299Ter)
c.242G>A (p.Trp81Ter)
c.1859G>A
n.58-2894G>A
c.644-2894G>A (n.644-2894G>A)
c.115G>A
 COSMIC COSMIC
14g.94619447G>CCA390856339SERPINA3c.896G>C (p.Trp299Ser)
c.242G>C (p.Trp81Ser)
c.1859G>C
n.58-2894G>C
c.644-2894G>C (n.644-2894G>C)
c.115G>C
14g.94619447G>TCA390856341SERPINA3c.896G>T (p.Trp299Leu)
c.242G>T (p.Trp81Leu)
c.1859G>T
n.58-2894G>T
c.644-2894G>T (n.644-2894G>T)
c.115G>T
14g.94619447_94619449delinsGGACA2156074157SERPINA3c.896_898delinsGGA (p.Trp299=)
c.242_244delinsGGA (p.Trp81=)
c.1859_1861delinsGGA
n.58-2894_58-2892delinsGGA
c.644-2894_644-2892delinsGGA (n.644-2894_644-2892delinsGGA)
c.115_117delinsGGA
14g.94619448G>ACA390856343SERPINA3c.897G>A (p.Trp299Ter)
c.243G>A (p.Trp81Ter)
c.1860G>A
n.58-2893G>A
c.644-2893G>A (n.644-2893G>A)
c.116G>A
 gnomAD v4
14g.94619448G>CCA390856345SERPINA3c.897G>C (p.Trp299Cys)
c.243G>C (p.Trp81Cys)
c.1860G>C
n.58-2893G>C
c.644-2893G>C (n.644-2893G>C)
c.116G>C
14g.94619448G>TCA390856347SERPINA3c.897G>T (p.Trp299Cys)
c.243G>T (p.Trp81Cys)
c.1860G>T
n.58-2893G>T
c.644-2893G>T (n.644-2893G>T)
c.116G>T
14g.94619452_94619453delCA710133485SERPINA3c.901_902del (p.Asp301LeufsTer9)
c.247_248del (p.Asp83LeufsTer9)
c.1864_1865del
c.901_902del (p.Asp301LeufsTer?)
n.58-2889_58-2888del
c.644-2889_644-2888del (n.644-2889_644-2888del)
c.120_121del
 dbSNP gnomAD v3 gnomAD v4
14g.94619450_94619453delCA2626330358SERPINA3c.899_902del (p.Arg300ThrfsTer8)
c.245_248del (p.Arg82ThrfsTer8)
c.1862_1865del
c.899_902del (p.Arg300ThrfsTer?)
n.58-2891_58-2888del
c.644-2891_644-2888del (n.644-2891_644-2888del)
c.118_121del
 gnomAD v4
14g.94619449A>CCA487625303SERPINA3c.898A>C (p.Arg300=)
c.244A>C (p.Arg82=)
c.1861A>C
n.58-2892A>C
c.644-2892A>C (n.644-2892A>C)
c.117A>C
14g.94619449A>GCA390856349SERPINA3c.898A>G (p.Arg300Gly)
c.244A>G (p.Arg82Gly)
c.1861A>G
n.58-2892A>G
c.644-2892A>G (n.644-2892A>G)
c.117A>G
14g.94619449A>TCA390856350SERPINA3c.898A>T (p.Arg300Ter)
c.244A>T (p.Arg82Ter)
c.1861A>T
n.58-2892A>T
c.644-2892A>T (n.644-2892A>T)
c.117A>T
14g.94619450G>ACA390856355SERPINA3c.899G>A (p.Arg300Lys)
c.245G>A (p.Arg82Lys)
c.1862G>A
n.58-2891G>A
c.644-2891G>A (n.644-2891G>A)
c.118G>A
 COSMIC COSMIC
14g.94619450G>CCA390856352SERPINA3c.899G>C (p.Arg300Thr)
c.245G>C (p.Arg82Thr)
c.1862G>C
n.58-2891G>C
c.644-2891G>C (n.644-2891G>C)
c.118G>C
14g.94619450G>TCA390856354SERPINA3c.899G>T (p.Arg300Ile)
c.245G>T (p.Arg82Ile)
c.1862G>T
n.58-2891G>T
c.644-2891G>T (n.644-2891G>T)
c.118G>T
 dbSNP gnomAD v4
14g.94619451A>CCA390856356SERPINA3c.900A>C (p.Arg300Ser)
c.246A>C (p.Arg82Ser)
c.1863A>C
n.58-2890A>C
c.644-2890A>C (n.644-2890A>C)
c.119A>C
14g.94619451A>GCA487625304SERPINA3c.900A>G (p.Arg300=)
c.246A>G (p.Arg82=)
c.1863A>G
n.58-2890A>G
c.644-2890A>G (n.644-2890A>G)
c.119A>G
14g.94619451A>TCA390856358SERPINA3c.900A>T (p.Arg300Ser)
c.246A>T (p.Arg82Ser)
c.1863A>T
n.58-2890A>T
c.644-2890A>T (n.644-2890A>T)
c.119A>T
14g.94619452G>ACA390856360SERPINA3c.901G>A (p.Asp301Asn)
c.247G>A (p.Asp83Asn)
c.1864G>A
n.58-2889G>A
c.644-2889G>A (n.644-2889G>A)
c.120G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619452G>CCA390856361SERPINA3c.901G>C (p.Asp301His)
c.247G>C (p.Asp83His)
c.1864G>C
n.58-2889G>C
c.644-2889G>C (n.644-2889G>C)
c.120G>C
 gnomAD v4
14g.94619452G=CA2156074158SERPINA3c.901G= (p.Asp301=)
c.247G= (p.Asp83=)
c.1864G=
n.58-2889G=
c.644-2889G= (n.644-2889G=)
c.120G=
14g.94619452G>TCA390856363SERPINA3c.901G>T (p.Asp301Tyr)
c.247G>T (p.Asp83Tyr)
c.1864G>T
n.58-2889G>T
c.644-2889G>T (n.644-2889G>T)
c.120G>T

Number of alleles fetched