Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94619308delCA2575615679SERPINA3c.757del (p.Tyr253ThrfsTer14)
c.103del (p.Tyr35ThrfsTer14)
c.1720del
n.58-3033del
c.644-3033del (n.644-3033del)
14g.94619308T>ACA390855848SERPINA3c.757T>A (p.Tyr253Asn)
c.103T>A (p.Tyr35Asn)
c.1720T>A
n.58-3033T>A
c.644-3033T>A (n.644-3033T>A)
14g.94619308T>CCA390855849SERPINA3c.757T>C (p.Tyr253His)
c.103T>C (p.Tyr35His)
c.1720T>C
n.58-3033T>C
c.644-3033T>C (n.644-3033T>C)
 gnomAD v4
14g.94619308T>GCA390855850SERPINA3c.757T>G (p.Tyr253Asp)
c.103T>G (p.Tyr35Asp)
c.1720T>G
n.58-3033T>G
c.644-3033T>G (n.644-3033T>G)
 ClinVar gnomAD v4
14g.94619309A>CCA390855851SERPINA3c.758A>C (p.Tyr253Ser)
c.104A>C (p.Tyr35Ser)
c.1721A>C
n.58-3032A>C
c.644-3032A>C (n.644-3032A>C)
14g.94619309A>GCA390855852SERPINA3c.758A>G (p.Tyr253Cys)
c.104A>G (p.Tyr35Cys)
c.1721A>G
n.58-3032A>G
c.644-3032A>G (n.644-3032A>G)
14g.94619309A>TCA390855853SERPINA3c.758A>T (p.Tyr253Phe)
c.104A>T (p.Tyr35Phe)
c.1721A>T
n.58-3032A>T
c.644-3032A>T (n.644-3032A>T)
14g.94619310C>ACA390855854SERPINA3c.759C>A (p.Tyr253Ter)
c.105C>A (p.Tyr35Ter)
c.1722C>A
n.58-3031C>A
c.644-3031C>A (n.644-3031C>A)
14g.94619310C>GCA390855855SERPINA3c.759C>G (p.Tyr253Ter)
c.105C>G (p.Tyr35Ter)
c.1722C>G
n.58-3031C>G
c.644-3031C>G (n.644-3031C>G)
14g.94619310C>TCA487625225SERPINA3c.759C>T (p.Tyr253=)
c.105C>T (p.Tyr35=)
c.1722C>T
n.58-3031C>T
c.644-3031C>T (n.644-3031C>T)
14g.94619311T>ACA390855856SERPINA3c.760T>A (p.Phe254Ile)
c.106T>A (p.Phe36Ile)
c.1723T>A
n.58-3030T>A
c.644-3030T>A (n.644-3030T>A)
14g.94619311T>CCA390855857SERPINA3c.760T>C (p.Phe254Leu)
c.106T>C (p.Phe36Leu)
c.1723T>C
n.58-3030T>C
c.644-3030T>C (n.644-3030T>C)
 gnomAD v4
14g.94619311T>GCA265884968SERPINA3c.760T>G (p.Phe254Val)
c.106T>G (p.Phe36Val)
c.1723T>G
n.58-3030T>G
c.644-3030T>G (n.644-3030T>G)
 dbSNP gnomAD v4
14g.94619311T=CA2156074087SERPINA3c.760T= (p.Phe254=)
c.106T= (p.Phe36=)
c.1723T=
n.58-3030T=
c.644-3030T= (n.644-3030T=)
14g.94619312T>ACA390855858SERPINA3c.761T>A (p.Phe254Tyr)
c.107T>A (p.Phe36Tyr)
c.1724T>A
n.58-3029T>A
c.644-3029T>A (n.644-3029T>A)
14g.94619312T>CCA390855859SERPINA3c.761T>C (p.Phe254Ser)
c.107T>C (p.Phe36Ser)
c.1724T>C
n.58-3029T>C
c.644-3029T>C (n.644-3029T>C)
14g.94619312T>GCA390855860SERPINA3c.761T>G (p.Phe254Cys)
c.107T>G (p.Phe36Cys)
c.1724T>G
n.58-3029T>G
c.644-3029T>G (n.644-3029T>G)
14g.94619313C>ACA390855861SERPINA3c.762C>A (p.Phe254Leu)
c.108C>A (p.Phe36Leu)
c.1725C>A
n.58-3028C>A
c.644-3028C>A (n.644-3028C>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94619313C=CA2156074088SERPINA3c.762C= (p.Phe254=)
c.108C= (p.Phe36=)
c.1725C=
n.58-3028C=
c.644-3028C= (n.644-3028C=)
14g.94619313C>GCA390855862SERPINA3c.762C>G (p.Phe254Leu)
c.108C>G (p.Phe36Leu)
c.1725C>G
n.58-3028C>G
c.644-3028C>G (n.644-3028C>G)
14g.94619313C>TCA487625226SERPINA3c.762C>T (p.Phe254=)
c.108C>T (p.Phe36=)
c.1725C>T
n.58-3028C>T
c.644-3028C>T (n.644-3028C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94619314C>ACA487625227SERPINA3c.763C>A (p.Arg255=)
c.109C>A (p.Arg37=)
c.1726C>A
n.58-3027C>A
c.644-3027C>A (n.644-3027C>A)
 gnomAD v4
14g.94619314C=CA2156074089SERPINA3c.763C= (p.Arg255=)
c.109C= (p.Arg37=)
c.1726C=
n.58-3027C=
c.644-3027C= (n.644-3027C=)
14g.94619314C>GCA390855863SERPINA3c.763C>G (p.Arg255Gly)
c.109C>G (p.Arg37Gly)
c.1726C>G
n.58-3027C>G
c.644-3027C>G (n.644-3027C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.94619314C>TCA7329880SERPINA3c.763C>T (p.Arg255Trp)
c.109C>T (p.Arg37Trp)
c.1726C>T
n.58-3027C>T
c.644-3027C>T (n.644-3027C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619315G>ACA7329881SERPINA3c.764G>A (p.Arg255Gln)
c.110G>A (p.Arg37Gln)
c.1727G>A
n.58-3026G>A
c.644-3026G>A (n.644-3026G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619315G>CCA390855864SERPINA3c.764G>C (p.Arg255Pro)
c.110G>C (p.Arg37Pro)
c.1727G>C
n.58-3026G>C
c.644-3026G>C (n.644-3026G>C)
14g.94619315G=CA2156074090SERPINA3c.764G= (p.Arg255=)
c.110G= (p.Arg37=)
c.1727G=
n.58-3026G=
c.644-3026G= (n.644-3026G=)
14g.94619315G>TCA390855865SERPINA3c.764G>T (p.Arg255Leu)
c.110G>T (p.Arg37Leu)
c.1727G>T
n.58-3026G>T
c.644-3026G>T (n.644-3026G>T)
 gnomAD v4
14g.94619317delCA2626330352SERPINA3c.766del (p.Asp256ThrfsTer11)
c.112del (p.Asp38ThrfsTer11)
c.1729del
n.58-3024del
c.644-3024del (n.644-3024del)
 gnomAD v4
14g.94619316G>ACA487625228SERPINA3c.765G>A (p.Arg255=)
c.111G>A (p.Arg37=)
c.1728G>A
n.58-3025G>A
c.644-3025G>A (n.644-3025G>A)
14g.94619316G>CCA487625229SERPINA3c.765G>C (p.Arg255=)
c.111G>C (p.Arg37=)
c.1728G>C
n.58-3025G>C
c.644-3025G>C (n.644-3025G>C)
 dbSNP
14g.94619316G=CA2156074091SERPINA3c.765G= (p.Arg255=)
c.111G= (p.Arg37=)
c.1728G=
n.58-3025G=
c.644-3025G= (n.644-3025G=)
14g.94619316G>TCA487625230SERPINA3c.765G>T (p.Arg255=)
c.111G>T (p.Arg37=)
c.1728G>T
n.58-3025G>T
c.644-3025G>T (n.644-3025G>T)
14g.94619317G>ACA390855868SERPINA3c.766G>A (p.Asp256Asn)
c.112G>A (p.Asp38Asn)
c.1729G>A
n.58-3024G>A
c.644-3024G>A (n.644-3024G>A)
14g.94619317G>CCA390855867SERPINA3c.766G>C (p.Asp256His)
c.112G>C (p.Asp38His)
c.1729G>C
n.58-3024G>C
c.644-3024G>C (n.644-3024G>C)
14g.94619317G>TCA390855866SERPINA3c.766G>T (p.Asp256Tyr)
c.112G>T (p.Asp38Tyr)
c.1729G>T
n.58-3024G>T
c.644-3024G>T (n.644-3024G>T)
14g.94619318A>CCA390855869SERPINA3c.767A>C (p.Asp256Ala)
c.113A>C (p.Asp38Ala)
c.1730A>C
n.58-3023A>C
c.644-3023A>C (n.644-3023A>C)
14g.94619318A>GCA390855870SERPINA3c.767A>G (p.Asp256Gly)
c.113A>G (p.Asp38Gly)
c.1730A>G
n.58-3023A>G
c.644-3023A>G (n.644-3023A>G)
14g.94619318A>TCA390855871SERPINA3c.767A>T (p.Asp256Val)
c.113A>T (p.Asp38Val)
c.1730A>T
n.58-3023A>T
c.644-3023A>T (n.644-3023A>T)
14g.94619319C>ACA390855872SERPINA3c.768C>A (p.Asp256Glu)
c.114C>A (p.Asp38Glu)
c.1731C>A
n.58-3022C>A
c.644-3022C>A (n.644-3022C>A)
 dbSNP gnomAD v4
14g.94619319C=CA2156074092SERPINA3c.768C= (p.Asp256=)
c.114C= (p.Asp38=)
c.1731C=
n.58-3022C=
c.644-3022C= (n.644-3022C=)
14g.94619319C>GCA390855873SERPINA3c.768C>G (p.Asp256Glu)
c.114C>G (p.Asp38Glu)
c.1731C>G
n.58-3022C>G
c.644-3022C>G (n.644-3022C>G)
14g.94619319C>TCA7329882SERPINA3c.768C>T (p.Asp256=)
c.114C>T (p.Asp38=)
c.1731C>T
n.58-3022C>T
c.644-3022C>T (n.644-3022C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619320G>ACA7329883SERPINA3c.769G>A (p.Glu257Lys)
c.115G>A (p.Glu39Lys)
c.1732G>A
n.58-3021G>A
c.644-3021G>A (n.644-3021G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619320G>CCA390855874SERPINA3c.769G>C (p.Glu257Gln)
c.115G>C (p.Glu39Gln)
c.1732G>C
n.58-3021G>C
c.644-3021G>C (n.644-3021G>C)
14g.94619320G=CA2156074093SERPINA3c.769G= (p.Glu257=)
c.115G= (p.Glu39=)
c.1732G=
n.58-3021G=
c.644-3021G= (n.644-3021G=)
14g.94619320G>TCA390855875SERPINA3c.769G>T (p.Glu257Ter)
c.115G>T (p.Glu39Ter)
c.1732G>T
n.58-3021G>T
c.644-3021G>T (n.644-3021G>T)
14g.94619321A>CCA390855876SERPINA3c.770A>C (p.Glu257Ala)
c.116A>C (p.Glu39Ala)
c.1733A>C
n.58-3020A>C
c.644-3020A>C (n.644-3020A>C)
14g.94619321A>GCA390855877SERPINA3c.770A>G (p.Glu257Gly)
c.116A>G (p.Glu39Gly)
c.1733A>G
n.58-3020A>G
c.644-3020A>G (n.644-3020A>G)
14g.94619321A>TCA390855878SERPINA3c.770A>T (p.Glu257Val)
c.116A>T (p.Glu39Val)
c.1733A>T
n.58-3020A>T
c.644-3020A>T (n.644-3020A>T)
 COSMIC COSMIC
14g.94619322G>ACA487625231SERPINA3c.771G>A (p.Glu257=)
c.117G>A (p.Glu39=)
c.1734G>A
n.58-3019G>A
c.644-3019G>A (n.644-3019G>A)
 gnomAD v4
14g.94619322G>CCA390855879SERPINA3c.771G>C (p.Glu257Asp)
c.117G>C (p.Glu39Asp)
c.1734G>C
n.58-3019G>C
c.644-3019G>C (n.644-3019G>C)
 gnomAD v4
14g.94619322G>TCA390855880SERPINA3c.771G>T (p.Glu257Asp)
c.117G>T (p.Glu39Asp)
c.1734G>T
n.58-3019G>T
c.644-3019G>T (n.644-3019G>T)
14g.94619322_94619325delCA2802669930SERPINA3c.771_774del (p.Glu257AspfsTer9)
c.117_120del (p.Glu39AspfsTer9)
c.1734_1737del
n.58-3019_58-3016del
c.644-3019_644-3016del (n.644-3019_644-3016del)
14g.94619323G>ACA390855882SERPINA3c.772G>A (p.Glu258Lys)
c.118G>A (p.Glu40Lys)
c.1735G>A
n.58-3018G>A
c.644-3018G>A (n.644-3018G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619323G>CCA390855883SERPINA3c.772G>C (p.Glu258Gln)
c.118G>C (p.Glu40Gln)
c.1735G>C
n.58-3018G>C
c.644-3018G>C (n.644-3018G>C)
14g.94619323G=CA2156074094SERPINA3c.772G= (p.Glu258=)
c.118G= (p.Glu40=)
c.1735G=
n.58-3018G=
c.644-3018G= (n.644-3018G=)
14g.94619323G>TCA390855881SERPINA3c.772G>T (p.Glu258Ter)
c.118G>T (p.Glu40Ter)
c.1735G>T
n.58-3018G>T
c.644-3018G>T (n.644-3018G>T)
 gnomAD v4
14g.94619324A=CA2156074095SERPINA3c.773A= (p.Glu258=)
c.119A= (p.Glu40=)
c.1736A=
n.58-3017A=
c.644-3017A= (n.644-3017A=)
14g.94619324A>CCA390855884SERPINA3c.773A>C (p.Glu258Ala)
c.119A>C (p.Glu40Ala)
c.1736A>C
n.58-3017A>C
c.644-3017A>C (n.644-3017A>C)
14g.94619324A>GCA390855885SERPINA3c.773A>G (p.Glu258Gly)
c.119A>G (p.Glu40Gly)
c.1736A>G
n.58-3017A>G
c.644-3017A>G (n.644-3017A>G)
 dbSNP
14g.94619324A>TCA390855886SERPINA3c.773A>T (p.Glu258Val)
c.119A>T (p.Glu40Val)
c.1736A>T
n.58-3017A>T
c.644-3017A>T (n.644-3017A>T)
14g.94619325G>ACA487625232SERPINA3c.774G>A (p.Glu258=)
c.120G>A (p.Glu40=)
c.1737G>A
n.58-3016G>A
c.644-3016G>A (n.644-3016G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94619325G>CCA390855887SERPINA3c.774G>C (p.Glu258Asp)
c.120G>C (p.Glu40Asp)
c.1737G>C
n.58-3016G>C
c.644-3016G>C (n.644-3016G>C)
 gnomAD v4
14g.94619325G=CA2156074096SERPINA3c.774G= (p.Glu258=)
c.120G= (p.Glu40=)
c.1737G=
n.58-3016G=
c.644-3016G= (n.644-3016G=)
14g.94619325G>TCA390855888SERPINA3c.774G>T (p.Glu258Asp)
c.120G>T (p.Glu40Asp)
c.1737G>T
n.58-3016G>T
c.644-3016G>T (n.644-3016G>T)
14g.94619325dupCA2575615680SERPINA3c.774dup (p.Leu259AlafsTer22)
c.120dup (p.Leu41AlafsTer22)
c.1737dup
n.58-3016dup
c.644-3016dup (n.644-3016dup)
14g.94619326C>ACA390855889SERPINA3c.775C>A (p.Leu259Met)
c.121C>A (p.Leu41Met)
c.1738C>A
n.58-3015C>A
c.644-3015C>A (n.644-3015C>A)
 gnomAD v4
14g.94619326C>GCA390855890SERPINA3c.775C>G (p.Leu259Val)
c.121C>G (p.Leu41Val)
c.1738C>G
n.58-3015C>G
c.644-3015C>G (n.644-3015C>G)
14g.94619326C>TCA487625233SERPINA3c.775C>T (p.Leu259=)
c.121C>T (p.Leu41=)
c.1738C>T
n.58-3015C>T
c.644-3015C>T (n.644-3015C>T)
 gnomAD v4
14g.94619326_94619327insCTCTCTCAACTCTCTCCTCACTCTCTCCA2802669931SERPINA3c.775_776insCTCTCTCAACTCTCTCCTCACTCTCTC (p.Glu258_Leu259insProLeuSerThrLeuSerSerLeuSer)
c.121_122insCTCTCTCAACTCTCTCCTCACTCTCTC (p.Glu40_Leu41insProLeuSerThrLeuSerSerLeuSer)
c.1738_1739insCTCTCTCAACTCTCTCCTCACTCTCTC
n.58-3015_58-3014insCTCTCTCAACTCTCTCCTCACTCTCTC
c.644-3015_644-3014insCTCTCTCAACTCTCTCCTCACTCTCTC (n.644-3015_644-3014insCTCTCTCAACTCTCTCCTCACTCTCTC)
14g.94619327T>ACA390855891SERPINA3c.776T>A (p.Leu259Gln)
c.122T>A (p.Leu41Gln)
c.1739T>A
n.58-3014T>A
c.644-3014T>A (n.644-3014T>A)
 gnomAD v4
14g.94619327T>CCA390855892SERPINA3c.776T>C (p.Leu259Pro)
c.122T>C (p.Leu41Pro)
c.1739T>C
n.58-3014T>C
c.644-3014T>C (n.644-3014T>C)
14g.94619327T>GCA390855893SERPINA3c.776T>G (p.Leu259Arg)
c.122T>G (p.Leu41Arg)
c.1739T>G
n.58-3014T>G
c.644-3014T>G (n.644-3014T>G)
 gnomAD v4
14g.94619328G>ACA487625234SERPINA3c.777G>A (p.Leu259=)
c.123G>A (p.Leu41=)
c.1740G>A
n.58-3013G>A
c.644-3013G>A (n.644-3013G>A)
14g.94619328G>CCA487625235SERPINA3c.777G>C (p.Leu259=)
c.123G>C (p.Leu41=)
c.1740G>C
n.58-3013G>C
c.644-3013G>C (n.644-3013G>C)
 gnomAD v4
14g.94619328G>TCA487625236SERPINA3c.777G>T (p.Leu259=)
c.123G>T (p.Leu41=)
c.1740G>T
n.58-3013G>T
c.644-3013G>T (n.644-3013G>T)
14g.94619328_94619329insCCA2575615681SERPINA3c.777_778insC (p.Ser260LeufsTer21)
c.123_124insC (p.Ser42LeufsTer21)
c.1740_1741insC
n.58-3013_58-3012insC
c.644-3013_644-3012insC (n.644-3013_644-3012insC)
14g.94619329T>ACA390855894SERPINA3c.778T>A (p.Ser260Thr)
c.124T>A (p.Ser42Thr)
c.1741T>A
n.58-3012T>A
c.644-3012T>A (n.644-3012T>A)
14g.94619329T>CCA390855895SERPINA3c.778T>C (p.Ser260Pro)
c.124T>C (p.Ser42Pro)
c.1741T>C
n.58-3012T>C
c.644-3012T>C (n.644-3012T>C)
 dbSNP gnomAD v4
14g.94619329T>GCA390855896SERPINA3c.778T>G (p.Ser260Ala)
c.124T>G (p.Ser42Ala)
c.1741T>G
n.58-3012T>G
c.644-3012T>G (n.644-3012T>G)
14g.94619329T=CA2156074097SERPINA3c.778T= (p.Ser260=)
c.124T= (p.Ser42=)
c.1741T=
n.58-3012T=
c.644-3012T= (n.644-3012T=)
14g.94619330C>ACA390855899SERPINA3c.779C>A (p.Ser260Tyr)
c.125C>A (p.Ser42Tyr)
c.1742C>A
n.58-3011C>A
c.644-3011C>A (n.644-3011C>A)
14g.94619330C=CA2156074098SERPINA3c.779C= (p.Ser260=)
c.125C= (p.Ser42=)
c.1742C=
n.58-3011C=
c.644-3011C= (n.644-3011C=)
14g.94619330C>GCA390855897SERPINA3c.779C>G (p.Ser260Cys)
c.125C>G (p.Ser42Cys)
c.1742C>G
n.58-3011C>G
c.644-3011C>G (n.644-3011C>G)
14g.94619330C>TCA390855898SERPINA3c.779C>T (p.Ser260Phe)
c.125C>T (p.Ser42Phe)
c.1742C>T
n.58-3011C>T
c.644-3011C>T (n.644-3011C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619331C>ACA487625237SERPINA3c.780C>A (p.Ser260=)
c.126C>A (p.Ser42=)
c.1743C>A
n.58-3010C>A
c.644-3010C>A (n.644-3010C>A)
14g.94619331C>GCA487625238SERPINA3c.780C>G (p.Ser260=)
c.126C>G (p.Ser42=)
c.1743C>G
n.58-3010C>G
c.644-3010C>G (n.644-3010C>G)
14g.94619331C>TCA487625239SERPINA3c.780C>T (p.Ser260=)
c.126C>T (p.Ser42=)
c.1743C>T
n.58-3010C>T
c.644-3010C>T (n.644-3010C>T)
 gnomAD v4
14g.94619332T>ACA390855900SERPINA3c.781T>A (p.Cys261Ser)
c.127T>A (p.Cys43Ser)
c.1744T>A
n.58-3009T>A
c.644-3009T>A (n.644-3009T>A)
14g.94619332T>CCA390855901SERPINA3c.781T>C (p.Cys261Arg)
c.127T>C (p.Cys43Arg)
c.1744T>C
n.58-3009T>C
c.644-3009T>C (n.644-3009T>C)
 gnomAD v4
14g.94619332T>GCA390855902SERPINA3c.781T>G (p.Cys261Gly)
c.127T>G (p.Cys43Gly)
c.1744T>G
n.58-3009T>G
c.644-3009T>G (n.644-3009T>G)
14g.94619333G>ACA7329885SERPINA3c.782G>A (p.Cys261Tyr)
c.128G>A (p.Cys43Tyr)
c.1745G>A
n.58-3008G>A
c.644-3008G>A (n.644-3008G>A)
c.1G>A
 dbSNP ExAC gnomAD v2
14g.94619333G>CCA390855903SERPINA3c.782G>C (p.Cys261Ser)
c.128G>C (p.Cys43Ser)
c.1745G>C
n.58-3008G>C
c.644-3008G>C (n.644-3008G>C)
c.1G>C
14g.94619333G=CA2156074099SERPINA3c.782G= (p.Cys261=)
c.128G= (p.Cys43=)
c.1745G=
n.58-3008G=
c.644-3008G= (n.644-3008G=)
c.1G=
14g.94619333G>TCA7329884SERPINA3c.782G>T (p.Cys261Phe)
c.128G>T (p.Cys43Phe)
c.1745G>T
n.58-3008G>T
c.644-3008G>T (n.644-3008G>T)
c.1G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619334C>ACA390855904SERPINA3c.783C>A (p.Cys261Ter)
c.129C>A (p.Cys43Ter)
c.1746C>A
n.58-3007C>A
c.644-3007C>A (n.644-3007C>A)
c.2C>A
14g.94619334C>GCA390855905SERPINA3c.783C>G (p.Cys261Trp)
c.129C>G (p.Cys43Trp)
c.1746C>G
n.58-3007C>G
c.644-3007C>G (n.644-3007C>G)
c.2C>G
14g.94619334C>TCA487625240SERPINA3c.783C>T (p.Cys261=)
c.129C>T (p.Cys43=)
c.1746C>T
n.58-3007C>T
c.644-3007C>T (n.644-3007C>T)
c.2C>T
14g.94619335A=CA2156074100SERPINA3c.784A= (p.Thr262=)
c.130A= (p.Thr44=)
c.1747A=
n.58-3006A=
c.644-3006A= (n.644-3006A=)
c.3A=
14g.94619335A>CCA390855906SERPINA3c.784A>C (p.Thr262Pro)
c.130A>C (p.Thr44Pro)
c.1747A>C
n.58-3006A>C
c.644-3006A>C (n.644-3006A>C)
c.3A>C
14g.94619335A>GCA390855907SERPINA3c.784A>G (p.Thr262Ala)
c.130A>G (p.Thr44Ala)
c.1747A>G
n.58-3006A>G
c.644-3006A>G (n.644-3006A>G)
c.3A>G
 dbSNP
14g.94619335A>TCA390855908SERPINA3c.784A>T (p.Thr262Ser)
c.130A>T (p.Thr44Ser)
c.1747A>T
n.58-3006A>T
c.644-3006A>T (n.644-3006A>T)
c.3A>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619336C>ACA390855909SERPINA3c.785C>A (p.Thr262Asn)
c.131C>A (p.Thr44Asn)
c.1748C>A
n.58-3005C>A
c.644-3005C>A (n.644-3005C>A)
c.4C>A
14g.94619336C>GCA390855911SERPINA3c.785C>G (p.Thr262Ser)
c.131C>G (p.Thr44Ser)
c.1748C>G
n.58-3005C>G
c.644-3005C>G (n.644-3005C>G)
c.4C>G
14g.94619336C>TCA390855910SERPINA3c.785C>T (p.Thr262Ile)
c.131C>T (p.Thr44Ile)
c.1748C>T
n.58-3005C>T
c.644-3005C>T (n.644-3005C>T)
c.4C>T
14g.94619337C>ACA7329886SERPINA3c.786C>A (p.Thr262=)
c.132C>A (p.Thr44=)
c.1749C>A
n.58-3004C>A
c.644-3004C>A (n.644-3004C>A)
c.5C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619337C=CA2156074101SERPINA3c.786C= (p.Thr262=)
c.132C= (p.Thr44=)
c.1749C=
n.58-3004C=
c.644-3004C= (n.644-3004C=)
c.5C=
14g.94619337C>GCA487625241SERPINA3c.786C>G (p.Thr262=)
c.132C>G (p.Thr44=)
c.1749C>G
n.58-3004C>G
c.644-3004C>G (n.644-3004C>G)
c.5C>G
14g.94619337C>TCA7329887SERPINA3c.786C>T (p.Thr262=)
c.132C>T (p.Thr44=)
c.1749C>T
n.58-3004C>T
c.644-3004C>T (n.644-3004C>T)
c.5C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619338G>ACA7329888SERPINA3c.787G>A (p.Val263Met)
c.133G>A (p.Val45Met)
c.1750G>A
n.58-3003G>A
c.644-3003G>A (n.644-3003G>A)
c.6G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619338G>CCA390855912SERPINA3c.787G>C (p.Val263Leu)
c.133G>C (p.Val45Leu)
c.1750G>C
n.58-3003G>C
c.644-3003G>C (n.644-3003G>C)
c.6G>C
 gnomAD v4
14g.94619338G=CA2156074102SERPINA3c.787G= (p.Val263=)
c.133G= (p.Val45=)
c.1750G=
n.58-3003G=
c.644-3003G= (n.644-3003G=)
c.6G=
14g.94619338G>TCA265885059SERPINA3c.787G>T (p.Val263Leu)
c.133G>T (p.Val45Leu)
c.1750G>T
n.58-3003G>T
c.644-3003G>T (n.644-3003G>T)
c.6G>T
 dbSNP gnomAD v4
14g.94619339T>ACA390855913SERPINA3c.788T>A (p.Val263Glu)
c.134T>A (p.Val45Glu)
c.1751T>A
n.58-3002T>A
c.644-3002T>A (n.644-3002T>A)
c.7T>A
14g.94619339T>CCA390855914SERPINA3c.788T>C (p.Val263Ala)
c.134T>C (p.Val45Ala)
c.1751T>C
n.58-3002T>C
c.644-3002T>C (n.644-3002T>C)
c.7T>C
 dbSNP
14g.94619339T>GCA390855915SERPINA3c.788T>G (p.Val263Gly)
c.134T>G (p.Val45Gly)
c.1751T>G
n.58-3002T>G
c.644-3002T>G (n.644-3002T>G)
c.7T>G
14g.94619339T=CA2156074103SERPINA3c.788T= (p.Val263=)
c.134T= (p.Val45=)
c.1751T=
n.58-3002T=
c.644-3002T= (n.644-3002T=)
c.7T=
14g.94619340G>ACA7329889SERPINA3c.789G>A (p.Val263=)
c.135G>A (p.Val45=)
c.1752G>A
n.58-3001G>A
c.644-3001G>A (n.644-3001G>A)
c.8G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619340G>CCA487625243SERPINA3c.789G>C (p.Val263=)
c.135G>C (p.Val45=)
c.1752G>C
n.58-3001G>C
c.644-3001G>C (n.644-3001G>C)
c.8G>C
14g.94619340G=CA2156074104SERPINA3c.789G= (p.Val263=)
c.135G= (p.Val45=)
c.1752G=
n.58-3001G=
c.644-3001G= (n.644-3001G=)
c.8G=
14g.94619340G>TCA487625242SERPINA3c.789G>T (p.Val263=)
c.135G>T (p.Val45=)
c.1752G>T
n.58-3001G>T
c.644-3001G>T (n.644-3001G>T)
c.8G>T
14g.94619340_94619342delinsGGTCA2156074105SERPINA3c.789_791delinsGGT (p.Val263=)
c.135_137delinsGGT (p.Val45=)
c.1752_1754delinsGGT
n.58-3001_58-2999delinsGGT
c.644-3001_644-2999delinsGGT (n.644-3001_644-2999delinsGGT)
c.8_10delinsGGT
14g.94619341G>ACA390855916SERPINA3c.790G>A (p.Val264Met)
c.136G>A (p.Val46Met)
c.1753G>A
n.58-3000G>A
c.644-3000G>A (n.644-3000G>A)
c.9G>A
 gnomAD v4
14g.94619341G>CCA390855917SERPINA3c.790G>C (p.Val264Leu)
c.136G>C (p.Val46Leu)
c.1753G>C
n.58-3000G>C
c.644-3000G>C (n.644-3000G>C)
c.9G>C
14g.94619341G>TCA390855918SERPINA3c.790G>T (p.Val264Leu)
c.136G>T (p.Val46Leu)
c.1753G>T
n.58-3000G>T
c.644-3000G>T (n.644-3000G>T)
c.9G>T
14g.94619342_94619343delCA616115365SERPINA3c.791_792del (p.Val264GlyfsTer16)
c.137_138del (p.Val46GlyfsTer16)
c.1754_1755del
n.58-2999_58-2998del
c.644-2999_644-2998del (n.644-2999_644-2998del)
c.10_11del
 dbSNP gnomAD v2 gnomAD v4
14g.94619342T>ACA390855919SERPINA3c.791T>A (p.Val264Glu)
c.137T>A (p.Val46Glu)
c.1754T>A
n.58-2999T>A
c.644-2999T>A (n.644-2999T>A)
c.10T>A
14g.94619342T>CCA390855921SERPINA3c.791T>C (p.Val264Ala)
c.137T>C (p.Val46Ala)
c.1754T>C
n.58-2999T>C
c.644-2999T>C (n.644-2999T>C)
c.10T>C
14g.94619342T>GCA390855920SERPINA3c.791T>G (p.Val264Gly)
c.137T>G (p.Val46Gly)
c.1754T>G
n.58-2999T>G
c.644-2999T>G (n.644-2999T>G)
c.10T>G
14g.94619343G>ACA487625244SERPINA3c.792G>A (p.Val264=)
c.138G>A (p.Val46=)
c.1755G>A
n.58-2998G>A
c.644-2998G>A (n.644-2998G>A)
c.11G>A
 gnomAD v4
14g.94619343G>CCA487625245SERPINA3c.792G>C (p.Val264=)
c.138G>C (p.Val46=)
c.1755G>C
n.58-2998G>C
c.644-2998G>C (n.644-2998G>C)
c.11G>C
14g.94619343G>TCA487625246SERPINA3c.792G>T (p.Val264=)
c.138G>T (p.Val46=)
c.1755G>T
n.58-2998G>T
c.644-2998G>T (n.644-2998G>T)
c.11G>T
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.94619344G>ACA265885078SERPINA3c.793G>A (p.Glu265Lys)
c.139G>A (p.Glu47Lys)
c.1756G>A
n.58-2997G>A
c.644-2997G>A (n.644-2997G>A)
c.12G>A
 dbSNP gnomAD v4
14g.94619344G>CCA390855922SERPINA3c.793G>C (p.Glu265Gln)
c.139G>C (p.Glu47Gln)
c.1756G>C
n.58-2997G>C
c.644-2997G>C (n.644-2997G>C)
c.12G>C
 gnomAD v4
14g.94619344G=CA2156074107SERPINA3c.793G= (p.Glu265=)
c.139G= (p.Glu47=)
c.1756G=
n.58-2997G=
c.644-2997G= (n.644-2997G=)
c.12G=
14g.94619344G>TCA390855923SERPINA3c.793G>T (p.Glu265Ter)
c.139G>T (p.Glu47Ter)
c.1756G>T
n.58-2997G>T
c.644-2997G>T (n.644-2997G>T)
c.12G>T
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.94619345A=CA2156074108SERPINA3c.794A= (p.Glu265=)
c.140A= (p.Glu47=)
c.1757A=
n.58-2996A=
c.644-2996A= (n.644-2996A=)
c.13A=
14g.94619345A>CCA390855926SERPINA3c.794A>C (p.Glu265Ala)
c.140A>C (p.Glu47Ala)
c.1757A>C
n.58-2996A>C
c.644-2996A>C (n.644-2996A>C)
c.13A>C
 dbSNP gnomAD v4
14g.94619345A>GCA390855924SERPINA3c.794A>G (p.Glu265Gly)
c.140A>G (p.Glu47Gly)
c.1757A>G
n.58-2996A>G
c.644-2996A>G (n.644-2996A>G)
c.13A>G
 gnomAD v4
14g.94619345A>TCA390855925SERPINA3c.794A>T (p.Glu265Val)
c.140A>T (p.Glu47Val)
c.1757A>T
n.58-2996A>T
c.644-2996A>T (n.644-2996A>T)
c.13A>T
14g.94619346G>ACA487625247SERPINA3c.795G>A (p.Glu265=)
c.141G>A (p.Glu47=)
c.1758G>A
n.58-2995G>A
c.644-2995G>A (n.644-2995G>A)
c.14G>A
14g.94619346G>CCA390855927SERPINA3c.795G>C (p.Glu265Asp)
c.141G>C (p.Glu47Asp)
c.1758G>C
n.58-2995G>C
c.644-2995G>C (n.644-2995G>C)
c.14G>C
14g.94619346G>TCA390855928SERPINA3c.795G>T (p.Glu265Asp)
c.141G>T (p.Glu47Asp)
c.1758G>T
n.58-2995G>T
c.644-2995G>T (n.644-2995G>T)
c.14G>T
14g.94619347C>ACA390855929SERPINA3c.796C>A (p.Leu266Met)
c.142C>A (p.Leu48Met)
c.1759C>A
n.58-2994C>A
c.644-2994C>A (n.644-2994C>A)
c.15C>A
14g.94619347C>GCA390855930SERPINA3c.796C>G (p.Leu266Val)
c.142C>G (p.Leu48Val)
c.1759C>G
n.58-2994C>G
c.644-2994C>G (n.644-2994C>G)
c.15C>G
14g.94619347C>TCA487625248SERPINA3c.796C>T (p.Leu266=)
c.142C>T (p.Leu48=)
c.1759C>T
n.58-2994C>T
c.644-2994C>T (n.644-2994C>T)
c.15C>T
 gnomAD v4
14g.94619348T>ACA390855931SERPINA3c.797T>A (p.Leu266Gln)
c.143T>A (p.Leu48Gln)
c.1760T>A
n.58-2993T>A
c.644-2993T>A (n.644-2993T>A)
c.16T>A
 gnomAD v4
14g.94619348T>CCA390855932SERPINA3c.797T>C (p.Leu266Pro)
c.143T>C (p.Leu48Pro)
c.1760T>C
n.58-2993T>C
c.644-2993T>C (n.644-2993T>C)
c.16T>C
14g.94619348T>GCA390855933SERPINA3c.797T>G (p.Leu266Arg)
c.143T>G (p.Leu48Arg)
c.1760T>G
n.58-2993T>G
c.644-2993T>G (n.644-2993T>G)
c.16T>G
14g.94619349G>ACA7329891SERPINA3c.798G>A (p.Leu266=)
c.144G>A (p.Leu48=)
c.1761G>A
n.58-2992G>A
c.644-2992G>A (n.644-2992G>A)
c.17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619349G>CCA487625249SERPINA3c.798G>C (p.Leu266=)
c.144G>C (p.Leu48=)
c.1761G>C
n.58-2992G>C
c.644-2992G>C (n.644-2992G>C)
c.17G>C
14g.94619349G=CA2156074109SERPINA3c.798G= (p.Leu266=)
c.144G= (p.Leu48=)
c.1761G=
n.58-2992G=
c.644-2992G= (n.644-2992G=)
c.17G=
14g.94619349G>TCA487625250SERPINA3c.798G>T (p.Leu266=)
c.144G>T (p.Leu48=)
c.1761G>T
n.58-2992G>T
c.644-2992G>T (n.644-2992G>T)
c.17G>T
14g.94619350A>CCA390855934SERPINA3c.799A>C (p.Lys267Gln)
c.145A>C (p.Lys49Gln)
c.1762A>C
n.58-2991A>C
c.644-2991A>C (n.644-2991A>C)
c.18A>C
14g.94619350A>GCA390855935SERPINA3c.799A>G (p.Lys267Glu)
c.145A>G (p.Lys49Glu)
c.1762A>G
n.58-2991A>G
c.644-2991A>G (n.644-2991A>G)
c.18A>G
 gnomAD v4
14g.94619350A>TCA390855936SERPINA3c.799A>T (p.Lys267Ter)
c.145A>T (p.Lys49Ter)
c.1762A>T
n.58-2991A>T
c.644-2991A>T (n.644-2991A>T)
c.18A>T
14g.94619351dupCA7329892SERPINA3c.800dup (p.Tyr268ValfsTer13)
c.146dup (p.Tyr50ValfsTer13)
c.1763dup
n.58-2990dup
c.644-2990dup (n.644-2990dup)
c.19dup
 dbSNP ExAC gnomAD v2 gnomAD v3 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.94619351A=CA2156074111SERPINA3c.800A= (p.Lys267=)
c.146A= (p.Lys49=)
c.1763A=
n.58-2990A=
c.644-2990A= (n.644-2990A=)
c.19A=
14g.94619351A>CCA390855937SERPINA3c.800A>C (p.Lys267Thr)
c.146A>C (p.Lys49Thr)
c.1763A>C
n.58-2990A>C
c.644-2990A>C (n.644-2990A>C)
c.19A>C
14g.94619351A>GCA265885084SERPINA3c.800A>G (p.Lys267Arg)
c.146A>G (p.Lys49Arg)
c.1763A>G
n.58-2990A>G
c.644-2990A>G (n.644-2990A>G)
c.19A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619351A>TCA390855938SERPINA3c.800A>T (p.Lys267Met)
c.146A>T (p.Lys49Met)
c.1763A>T
n.58-2990A>T
c.644-2990A>T (n.644-2990A>T)
c.19A>T
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

Number of alleles fetched