Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94619266G>ACA390855674SERPINA3c.715G>A (p.Val239Ile)
c.61G>A (p.Val21Ile)
c.1678G>A
n.58-3075G>A
c.644-3075G>A (n.644-3075G>A)
 gnomAD v4
14g.94619266G>CCA390855676SERPINA3c.715G>C (p.Val239Leu)
c.61G>C (p.Val21Leu)
c.1678G>C
n.58-3075G>C
c.644-3075G>C (n.644-3075G>C)
14g.94619266G>TCA390855678SERPINA3c.715G>T (p.Val239Leu)
c.61G>T (p.Val21Leu)
c.1678G>T
n.58-3075G>T
c.644-3075G>T (n.644-3075G>T)
14g.94619267T>ACA390855680SERPINA3c.716T>A (p.Val239Glu)
c.62T>A (p.Val21Glu)
c.1679T>A
n.58-3074T>A
c.644-3074T>A (n.644-3074T>A)
14g.94619267T>CCA7329871SERPINA3c.716T>C (p.Val239Ala)
c.62T>C (p.Val21Ala)
c.1679T>C
n.58-3074T>C
c.644-3074T>C (n.644-3074T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619267T>GCA390855682SERPINA3c.716T>G (p.Val239Gly)
c.62T>G (p.Val21Gly)
c.1679T>G
n.58-3074T>G
c.644-3074T>G (n.644-3074T>G)
14g.94619267T=CA2156074067SERPINA3c.716T= (p.Val239=)
c.62T= (p.Val21=)
c.1679T=
n.58-3074T=
c.644-3074T= (n.644-3074T=)
14g.94619268A>CCA487625197SERPINA3c.717A>C (p.Val239=)
c.63A>C (p.Val21=)
c.1680A>C
n.58-3073A>C
c.644-3073A>C (n.644-3073A>C)
14g.94619268A>GCA487625198SERPINA3c.717A>G (p.Val239=)
c.63A>G (p.Val21=)
c.1680A>G
n.58-3073A>G
c.644-3073A>G (n.644-3073A>G)
 gnomAD v4
14g.94619268A>TCA487625199SERPINA3c.717A>T (p.Val239=)
c.63A>T (p.Val21=)
c.1680A>T
n.58-3073A>T
c.644-3073A>T (n.644-3073A>T)
14g.94619269A>CCA390855684SERPINA3c.718A>C (p.Met240Leu)
c.64A>C (p.Met22Leu)
c.1681A>C
n.58-3072A>C
c.644-3072A>C (n.644-3072A>C)
14g.94619269A>GCA390855686SERPINA3c.718A>G (p.Met240Val)
c.64A>G (p.Met22Val)
c.1681A>G
n.58-3072A>G
c.644-3072A>G (n.644-3072A>G)
 COSMIC
14g.94619269A>TCA390855688SERPINA3c.718A>T (p.Met240Leu)
c.64A>T (p.Met22Leu)
c.1681A>T
n.58-3072A>T
c.644-3072A>T (n.644-3072A>T)
14g.94619270T>ACA390855690SERPINA3c.719T>A (p.Met240Lys)
c.65T>A (p.Met22Lys)
c.1682T>A
n.58-3071T>A
c.644-3071T>A (n.644-3071T>A)
14g.94619270T>CCA265884896SERPINA3c.719T>C (p.Met240Thr)
c.65T>C (p.Met22Thr)
c.1682T>C
n.58-3071T>C
c.644-3071T>C (n.644-3071T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619270T>GCA390855692SERPINA3c.719T>G (p.Met240Arg)
c.65T>G (p.Met22Arg)
c.1682T>G
n.58-3071T>G
c.644-3071T>G (n.644-3071T>G)
14g.94619270T=CA2156074068SERPINA3c.719T= (p.Met240=)
c.65T= (p.Met22=)
c.1682T=
n.58-3071T=
c.644-3071T= (n.644-3071T=)
14g.94619271G>ACA390855695SERPINA3c.720G>A (p.Met240Ile)
c.66G>A (p.Met22Ile)
c.1683G>A
n.58-3070G>A
c.644-3070G>A (n.644-3070G>A)
 COSMIC COSMIC
14g.94619271G>CCA390855697SERPINA3c.720G>C (p.Met240Ile)
c.66G>C (p.Met22Ile)
c.1683G>C
n.58-3070G>C
c.644-3070G>C (n.644-3070G>C)
14g.94619271G=CA2156074069SERPINA3c.720G= (p.Met240=)
c.66G= (p.Met22=)
c.1683G=
n.58-3070G=
c.644-3070G= (n.644-3070G=)
14g.94619271G>TCA7329872SERPINA3c.720G>T (p.Met240Ile)
c.66G>T (p.Met22Ile)
c.1683G>T
n.58-3070G>T
c.644-3070G>T (n.644-3070G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619272G>ACA390855699SERPINA3c.721G>A (p.Val241Met)
c.67G>A (p.Val23Met)
c.1684G>A
n.58-3069G>A
c.644-3069G>A (n.644-3069G>A)
 gnomAD v4
14g.94619272G>CCA390855701SERPINA3c.721G>C (p.Val241Leu)
c.67G>C (p.Val23Leu)
c.1684G>C
n.58-3069G>C
c.644-3069G>C (n.644-3069G>C)
14g.94619272G>TCA390855702SERPINA3c.721G>T (p.Val241Leu)
c.67G>T (p.Val23Leu)
c.1684G>T
n.58-3069G>T
c.644-3069G>T (n.644-3069G>T)
14g.94619273T>ACA390855704SERPINA3c.722T>A (p.Val241Glu)
c.68T>A (p.Val23Glu)
c.1685T>A
n.58-3068T>A
c.644-3068T>A (n.644-3068T>A)
14g.94619273T>CCA390855705SERPINA3c.722T>C (p.Val241Ala)
c.68T>C (p.Val23Ala)
c.1685T>C
n.58-3068T>C
c.644-3068T>C (n.644-3068T>C)
 gnomAD v4
14g.94619273T>GCA390855707SERPINA3c.722T>G (p.Val241Gly)
c.68T>G (p.Val23Gly)
c.1685T>G
n.58-3068T>G
c.644-3068T>G (n.644-3068T>G)
14g.94619274G>ACA487625201SERPINA3c.723G>A (p.Val241=)
c.69G>A (p.Val23=)
c.1686G>A
n.58-3067G>A
c.644-3067G>A (n.644-3067G>A)
 gnomAD v4 COSMIC COSMIC
14g.94619274G>CCA487625202SERPINA3c.723G>C (p.Val241=)
c.69G>C (p.Val23=)
c.1686G>C
n.58-3067G>C
c.644-3067G>C (n.644-3067G>C)
14g.94619274G=CA2156074070SERPINA3c.723G= (p.Val241=)
c.69G= (p.Val23=)
c.1686G=
n.58-3067G=
c.644-3067G= (n.644-3067G=)
14g.94619274G>TCA487625203SERPINA3c.723G>T (p.Val241=)
c.69G>T (p.Val23=)
c.1686G>T
n.58-3067G>T
c.644-3067G>T (n.644-3067G>T)
 dbSNP gnomAD v4
14g.94619275C>ACA265884897SERPINA3c.724C>A (p.Pro242Thr)
c.70C>A (p.Pro24Thr)
c.1687C>A
n.58-3066C>A
c.644-3066C>A (n.644-3066C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619275C=CA2156074071SERPINA3c.724C= (p.Pro242=)
c.70C= (p.Pro24=)
c.1687C=
n.58-3066C=
c.644-3066C= (n.644-3066C=)
14g.94619275C>GCA390855710SERPINA3c.724C>G (p.Pro242Ala)
c.70C>G (p.Pro24Ala)
c.1687C>G
n.58-3066C>G
c.644-3066C>G (n.644-3066C>G)
14g.94619275C>TCA7329873SERPINA3c.724C>T (p.Pro242Ser)
c.70C>T (p.Pro24Ser)
c.1687C>T
n.58-3066C>T
c.644-3066C>T (n.644-3066C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619276C>ACA390855713SERPINA3c.725C>A (p.Pro242His)
c.71C>A (p.Pro24His)
c.1688C>A
n.58-3065C>A
c.644-3065C>A (n.644-3065C>A)
14g.94619276C=CA2156074072SERPINA3c.725C= (p.Pro242=)
c.71C= (p.Pro24=)
c.1688C=
n.58-3065C=
c.644-3065C= (n.644-3065C=)
14g.94619276C>GCA390855715SERPINA3c.725C>G (p.Pro242Arg)
c.71C>G (p.Pro24Arg)
c.1688C>G
n.58-3065C>G
c.644-3065C>G (n.644-3065C>G)
14g.94619276C>TCA390855717SERPINA3c.725C>T (p.Pro242Leu)
c.71C>T (p.Pro24Leu)
c.1688C>T
n.58-3065C>T
c.644-3065C>T (n.644-3065C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.94619277C>ACA487625205SERPINA3c.726C>A (p.Pro242=)
c.72C>A (p.Pro24=)
c.1689C>A
n.58-3064C>A
c.644-3064C>A (n.644-3064C>A)
14g.94619277C=CA2156074073SERPINA3c.726C= (p.Pro242=)
c.72C= (p.Pro24=)
c.1689C=
n.58-3064C=
c.644-3064C= (n.644-3064C=)
14g.94619277C>GCA487625206SERPINA3c.726C>G (p.Pro242=)
c.72C>G (p.Pro24=)
c.1689C>G
n.58-3064C>G
c.644-3064C>G (n.644-3064C>G)
14g.94619277C>TCA7329874SERPINA3c.726C>T (p.Pro242=)
c.72C>T (p.Pro24=)
c.1689C>T
n.58-3064C>T
c.644-3064C>T (n.644-3064C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619278A=CA2156074074SERPINA3c.727A= (p.Met243=)
c.73A= (p.Met25=)
c.1690A=
n.58-3063A=
c.644-3063A= (n.644-3063A=)
14g.94619278A>CCA390855724SERPINA3c.727A>C (p.Met243Leu)
c.73A>C (p.Met25Leu)
c.1690A>C
n.58-3063A>C
c.644-3063A>C (n.644-3063A>C)
14g.94619278A>GCA7329875SERPINA3c.727A>G (p.Met243Val)
c.73A>G (p.Met25Val)
c.1690A>G
n.58-3063A>G
c.644-3063A>G (n.644-3063A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619278A>TCA390855722SERPINA3c.727A>T (p.Met243Leu)
c.73A>T (p.Met25Leu)
c.1690A>T
n.58-3063A>T
c.644-3063A>T (n.644-3063A>T)
14g.94619279T>ACA390855726SERPINA3c.728T>A (p.Met243Lys)
c.74T>A (p.Met25Lys)
c.1691T>A
n.58-3062T>A
c.644-3062T>A (n.644-3062T>A)
14g.94619279T>CCA390855727SERPINA3c.728T>C (p.Met243Thr)
c.74T>C (p.Met25Thr)
c.1691T>C
n.58-3062T>C
c.644-3062T>C (n.644-3062T>C)
 COSMIC COSMIC
14g.94619279T>GCA390855729SERPINA3c.728T>G (p.Met243Arg)
c.74T>G (p.Met25Arg)
c.1691T>G
n.58-3062T>G
c.644-3062T>G (n.644-3062T>G)
14g.94619280G>ACA390855731SERPINA3c.729G>A (p.Met243Ile)
c.75G>A (p.Met25Ile)
c.1692G>A
n.58-3061G>A
c.644-3061G>A (n.644-3061G>A)
 dbSNP
14g.94619280G>CCA390855733SERPINA3c.729G>C (p.Met243Ile)
c.75G>C (p.Met25Ile)
c.1692G>C
n.58-3061G>C
c.644-3061G>C (n.644-3061G>C)
14g.94619280G=CA2156074075SERPINA3c.729G= (p.Met243=)
c.75G= (p.Met25=)
c.1692G=
n.58-3061G=
c.644-3061G= (n.644-3061G=)
14g.94619280G>TCA390855734SERPINA3c.729G>T (p.Met243Ile)
c.75G>T (p.Met25Ile)
c.1692G>T
n.58-3061G>T
c.644-3061G>T (n.644-3061G>T)
14g.94619281A>CCA390855736SERPINA3c.730A>C (p.Met244Leu)
c.76A>C (p.Met26Leu)
c.1693A>C
n.58-3060A>C
c.644-3060A>C (n.644-3060A>C)
14g.94619281A>GCA390855737SERPINA3c.730A>G (p.Met244Val)
c.76A>G (p.Met26Val)
c.1693A>G
n.58-3060A>G
c.644-3060A>G (n.644-3060A>G)
14g.94619281A>TCA390855739SERPINA3c.730A>T (p.Met244Leu)
c.76A>T (p.Met26Leu)
c.1693A>T
n.58-3060A>T
c.644-3060A>T (n.644-3060A>T)
14g.94619282T>ACA390855740SERPINA3c.731T>A (p.Met244Lys)
c.77T>A (p.Met26Lys)
c.1694T>A
n.58-3059T>A
c.644-3059T>A (n.644-3059T>A)
14g.94619282T>CCA7329876SERPINA3c.731T>C (p.Met244Thr)
c.77T>C (p.Met26Thr)
c.1694T>C
n.58-3059T>C
c.644-3059T>C (n.644-3059T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619282T>GCA390855743SERPINA3c.731T>G (p.Met244Arg)
c.77T>G (p.Met26Arg)
c.1694T>G
n.58-3059T>G
c.644-3059T>G (n.644-3059T>G)
 dbSNP gnomAD v4
14g.94619282T=CA2156074076SERPINA3c.731T= (p.Met244=)
c.77T= (p.Met26=)
c.1694T=
n.58-3059T=
c.644-3059T= (n.644-3059T=)
14g.94619283G>ACA390855745SERPINA3c.732G>A (p.Met244Ile)
c.78G>A (p.Met26Ile)
c.1695G>A
n.58-3058G>A
c.644-3058G>A (n.644-3058G>A)
 gnomAD v4
14g.94619283G>CCA390855749SERPINA3c.732G>C (p.Met244Ile)
c.78G>C (p.Met26Ile)
c.1695G>C
n.58-3058G>C
c.644-3058G>C (n.644-3058G>C)
14g.94619283G>TCA390855747SERPINA3c.732G>T (p.Met244Ile)
c.78G>T (p.Met26Ile)
c.1695G>T
n.58-3058G>T
c.644-3058G>T (n.644-3058G>T)
14g.94619284A=CA2156074077SERPINA3c.733A= (p.Ser245=)
c.79A= (p.Ser27=)
c.1696A=
n.58-3057A=
c.644-3057A= (n.644-3057A=)
14g.94619284A>CCA390855752SERPINA3c.733A>C (p.Ser245Arg)
c.79A>C (p.Ser27Arg)
c.1696A>C
n.58-3057A>C
c.644-3057A>C (n.644-3057A>C)
14g.94619284A>GCA390855756SERPINA3c.733A>G (p.Ser245Gly)
c.79A>G (p.Ser27Gly)
c.1696A>G
n.58-3057A>G
c.644-3057A>G (n.644-3057A>G)
 dbSNP gnomAD v2
14g.94619284A>TCA390855753SERPINA3c.733A>T (p.Ser245Cys)
c.79A>T (p.Ser27Cys)
c.1696A>T
n.58-3057A>T
c.644-3057A>T (n.644-3057A>T)
14g.94619285G>ACA390855758SERPINA3c.734G>A (p.Ser245Asn)
c.80G>A (p.Ser27Asn)
c.1697G>A
n.58-3056G>A
c.644-3056G>A (n.644-3056G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94619285G>CCA390855762SERPINA3c.734G>C (p.Ser245Thr)
c.80G>C (p.Ser27Thr)
c.1697G>C
n.58-3056G>C
c.644-3056G>C (n.644-3056G>C)
14g.94619285G=CA2156074078SERPINA3c.734G= (p.Ser245=)
c.80G= (p.Ser27=)
c.1697G=
n.58-3056G=
c.644-3056G= (n.644-3056G=)
14g.94619285G>TCA390855760SERPINA3c.734G>T (p.Ser245Ile)
c.80G>T (p.Ser27Ile)
c.1697G>T
n.58-3056G>T
c.644-3056G>T (n.644-3056G>T)
14g.94619286T>ACA390855764SERPINA3c.735T>A (p.Ser245Arg)
c.81T>A (p.Ser27Arg)
c.1698T>A
n.58-3055T>A
c.644-3055T>A (n.644-3055T>A)
 gnomAD v4
14g.94619286T>CCA487625207SERPINA3c.735T>C (p.Ser245=)
c.81T>C (p.Ser27=)
c.1698T>C
n.58-3055T>C
c.644-3055T>C (n.644-3055T>C)
14g.94619286T>GCA390855766SERPINA3c.735T>G (p.Ser245Arg)
c.81T>G (p.Ser27Arg)
c.1698T>G
n.58-3055T>G
c.644-3055T>G (n.644-3055T>G)
14g.94619287T>ACA390855768SERPINA3c.736T>A (p.Leu246Met)
c.82T>A (p.Leu28Met)
c.1699T>A
n.58-3054T>A
c.644-3054T>A (n.644-3054T>A)
14g.94619287T>CCA487625208SERPINA3c.736T>C (p.Leu246=)
c.82T>C (p.Leu28=)
c.1699T>C
n.58-3054T>C
c.644-3054T>C (n.644-3054T>C)
14g.94619287T>GCA390855770SERPINA3c.736T>G (p.Leu246Val)
c.82T>G (p.Leu28Val)
c.1699T>G
n.58-3054T>G
c.644-3054T>G (n.644-3054T>G)
14g.94619288T>ACA390855772SERPINA3c.737T>A (p.Leu246Ter)
c.83T>A (p.Leu28Ter)
c.1700T>A
n.58-3053T>A
c.644-3053T>A (n.644-3053T>A)
14g.94619288T>CCA390855773SERPINA3c.737T>C (p.Leu246Ser)
c.83T>C (p.Leu28Ser)
c.1700T>C
n.58-3053T>C
c.644-3053T>C (n.644-3053T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94619288T>GCA390855775SERPINA3c.737T>G (p.Leu246Trp)
c.83T>G (p.Leu28Trp)
c.1700T>G
n.58-3053T>G
c.644-3053T>G (n.644-3053T>G)
14g.94619288T=CA2156074079SERPINA3c.737T= (p.Leu246=)
c.83T= (p.Leu28=)
c.1700T=
n.58-3053T=
c.644-3053T= (n.644-3053T=)
14g.94619289G>ACA487625209SERPINA3c.738G>A (p.Leu246=)
c.84G>A (p.Leu28=)
c.1701G>A
n.58-3052G>A
c.644-3052G>A (n.644-3052G>A)
 gnomAD v4
14g.94619289G>CCA390855777SERPINA3c.738G>C (p.Leu246Phe)
c.84G>C (p.Leu28Phe)
c.1701G>C
n.58-3052G>C
c.644-3052G>C (n.644-3052G>C)
14g.94619289G>TCA390855778SERPINA3c.738G>T (p.Leu246Phe)
c.84G>T (p.Leu28Phe)
c.1701G>T
n.58-3052G>T
c.644-3052G>T (n.644-3052G>T)
 gnomAD v4
14g.94619290C>ACA390855781SERPINA3c.739C>A (p.His247Asn)
c.85C>A (p.His29Asn)
c.1702C>A
n.58-3051C>A
c.644-3051C>A (n.644-3051C>A)
14g.94619290C>GCA390855783SERPINA3c.739C>G (p.His247Asp)
c.85C>G (p.His29Asp)
c.1702C>G
n.58-3051C>G
c.644-3051C>G (n.644-3051C>G)
14g.94619290C>TCA390855784SERPINA3c.739C>T (p.His247Tyr)
c.85C>T (p.His29Tyr)
c.1702C>T
n.58-3051C>T
c.644-3051C>T (n.644-3051C>T)
14g.94619291A>CCA390855789SERPINA3c.740A>C (p.His247Pro)
c.86A>C (p.His29Pro)
c.1703A>C
n.58-3050A>C
c.644-3050A>C (n.644-3050A>C)
14g.94619291A>GCA390855786SERPINA3c.740A>G (p.His247Arg)
c.86A>G (p.His29Arg)
c.1703A>G
n.58-3050A>G
c.644-3050A>G (n.644-3050A>G)
14g.94619291A>TCA390855787SERPINA3c.740A>T (p.His247Leu)
c.86A>T (p.His29Leu)
c.1703A>T
n.58-3050A>T
c.644-3050A>T (n.644-3050A>T)
14g.94619292T>ACA390855791SERPINA3c.741T>A (p.His247Gln)
c.87T>A (p.His29Gln)
c.1704T>A
n.58-3049T>A
c.644-3049T>A (n.644-3049T>A)
 gnomAD v4
14g.94619292T>CCA487625212SERPINA3c.741T>C (p.His247=)
c.87T>C (p.His29=)
c.1704T>C
n.58-3049T>C
c.644-3049T>C (n.644-3049T>C)
14g.94619292T>GCA390855793SERPINA3c.741T>G (p.His247Gln)
c.87T>G (p.His29Gln)
c.1704T>G
n.58-3049T>G
c.644-3049T>G (n.644-3049T>G)
14g.94619293C>ACA390855796SERPINA3c.742C>A (p.His248Asn)
c.88C>A (p.His30Asn)
c.1705C>A
n.58-3048C>A
c.644-3048C>A (n.644-3048C>A)
14g.94619293C=CA2156074080SERPINA3c.742C= (p.His248=)
c.88C= (p.His30=)
c.1705C=
n.58-3048C=
c.644-3048C= (n.644-3048C=)
14g.94619293C>GCA390855798SERPINA3c.742C>G (p.His248Asp)
c.88C>G (p.His30Asp)
c.1705C>G
n.58-3048C>G
c.644-3048C>G (n.644-3048C>G)
14g.94619293C>TCA7329877SERPINA3c.742C>T (p.His248Tyr)
c.88C>T (p.His30Tyr)
c.1705C>T
n.58-3048C>T
c.644-3048C>T (n.644-3048C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619294A>CCA390855802SERPINA3c.743A>C (p.His248Pro)
c.89A>C (p.His30Pro)
c.1706A>C
n.58-3047A>C
c.644-3047A>C (n.644-3047A>C)
14g.94619294A>GCA390855804SERPINA3c.743A>G (p.His248Arg)
c.89A>G (p.His30Arg)
c.1706A>G
n.58-3047A>G
c.644-3047A>G (n.644-3047A>G)
14g.94619294A>TCA390855807SERPINA3c.743A>T (p.His248Leu)
c.89A>T (p.His30Leu)
c.1706A>T
n.58-3047A>T
c.644-3047A>T (n.644-3047A>T)
14g.94619295C>ACA390855809SERPINA3c.744C>A (p.His248Gln)
c.90C>A (p.His30Gln)
c.1707C>A
n.58-3046C>A
c.644-3046C>A (n.644-3046C>A)
14g.94619295C=CA2156074081SERPINA3c.744C= (p.His248=)
c.90C= (p.His30=)
c.1707C=
n.58-3046C=
c.644-3046C= (n.644-3046C=)
14g.94619295C>GCA390855811SERPINA3c.744C>G (p.His248Gln)
c.90C>G (p.His30Gln)
c.1707C>G
n.58-3046C>G
c.644-3046C>G (n.644-3046C>G)
14g.94619295C>TCA7329878SERPINA3c.744C>T (p.His248=)
c.90C>T (p.His30=)
c.1707C>T
n.58-3046C>T
c.644-3046C>T (n.644-3046C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619296C>ACA390855815SERPINA3c.745C>A (p.Leu249Met)
c.91C>A (p.Leu31Met)
c.1708C>A
n.58-3045C>A
c.644-3045C>A (n.644-3045C>A)
14g.94619296C>GCA390855817SERPINA3c.745C>G (p.Leu249Val)
c.91C>G (p.Leu31Val)
c.1708C>G
n.58-3045C>G
c.644-3045C>G (n.644-3045C>G)
14g.94619296C>TCA487625213SERPINA3c.745C>T (p.Leu249=)
c.91C>T (p.Leu31=)
c.1708C>T
n.58-3045C>T
c.644-3045C>T (n.644-3045C>T)
14g.94619297T>ACA390855820SERPINA3c.746T>A (p.Leu249Gln)
c.92T>A (p.Leu31Gln)
c.1709T>A
n.58-3044T>A
c.644-3044T>A (n.644-3044T>A)
14g.94619297T>CCA390855821SERPINA3c.746T>C (p.Leu249Pro)
c.92T>C (p.Leu31Pro)
c.1709T>C
n.58-3044T>C
c.644-3044T>C (n.644-3044T>C)
14g.94619297T>GCA390855823SERPINA3c.746T>G (p.Leu249Arg)
c.92T>G (p.Leu31Arg)
c.1709T>G
n.58-3044T>G
c.644-3044T>G (n.644-3044T>G)
 gnomAD v4
14g.94619298G>ACA487625216SERPINA3c.747G>A (p.Leu249=)
c.93G>A (p.Leu31=)
c.1710G>A
n.58-3043G>A
c.644-3043G>A (n.644-3043G>A)
14g.94619298G>CCA487625215SERPINA3c.747G>C (p.Leu249=)
c.93G>C (p.Leu31=)
c.1710G>C
n.58-3043G>C
c.644-3043G>C (n.644-3043G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619298G=CA2156074082SERPINA3c.747G= (p.Leu249=)
c.93G= (p.Leu31=)
c.1710G=
n.58-3043G=
c.644-3043G= (n.644-3043G=)
14g.94619298G>TCA487625214SERPINA3c.747G>T (p.Leu249=)
c.93G>T (p.Leu31=)
c.1710G>T
n.58-3043G>T
c.644-3043G>T (n.644-3043G>T)
14g.94619299A>CCA390855825SERPINA3c.748A>C (p.Thr250Pro)
c.94A>C (p.Thr32Pro)
c.1711A>C
n.58-3042A>C
c.644-3042A>C (n.644-3042A>C)
14g.94619299A>GCA390855827SERPINA3c.748A>G (p.Thr250Ala)
c.94A>G (p.Thr32Ala)
c.1711A>G
n.58-3042A>G
c.644-3042A>G (n.644-3042A>G)
14g.94619299A>TCA390855829SERPINA3c.748A>T (p.Thr250Ser)
c.94A>T (p.Thr32Ser)
c.1711A>T
n.58-3042A>T
c.644-3042A>T (n.644-3042A>T)
14g.94619300C>ACA390855832SERPINA3c.749C>A (p.Thr250Asn)
c.95C>A (p.Thr32Asn)
c.1712C>A
n.58-3041C>A
c.644-3041C>A (n.644-3041C>A)
14g.94619300C=CA2156074083SERPINA3c.749C= (p.Thr250=)
c.95C= (p.Thr32=)
c.1712C=
n.58-3041C=
c.644-3041C= (n.644-3041C=)
14g.94619300C>GCA390855834SERPINA3c.749C>G (p.Thr250Ser)
c.95C>G (p.Thr32Ser)
c.1712C>G
n.58-3041C>G
c.644-3041C>G (n.644-3041C>G)
14g.94619300C>TCA390855836SERPINA3c.749C>T (p.Thr250Ile)
c.95C>T (p.Thr32Ile)
c.1712C>T
n.58-3041C>T
c.644-3041C>T (n.644-3041C>T)
 dbSNP gnomAD v2
14g.94619301T>ACA487625217SERPINA3c.750T>A (p.Thr250=)
c.96T>A (p.Thr32=)
c.1713T>A
n.58-3040T>A
c.644-3040T>A (n.644-3040T>A)
14g.94619301T>CCA487625218SERPINA3c.750T>C (p.Thr250=)
c.96T>C (p.Thr32=)
c.1713T>C
n.58-3040T>C
c.644-3040T>C (n.644-3040T>C)
14g.94619301T>GCA487625219SERPINA3c.750T>G (p.Thr250=)
c.96T>G (p.Thr32=)
c.1713T>G
n.58-3040T>G
c.644-3040T>G (n.644-3040T>G)
14g.94619302A=CA2156074084SERPINA3c.751A= (p.Ile251=)
c.97A= (p.Ile33=)
c.1714A=
n.58-3039A=
c.644-3039A= (n.644-3039A=)
14g.94619302A>CCA390855837SERPINA3c.751A>C (p.Ile251Leu)
c.97A>C (p.Ile33Leu)
c.1714A>C
n.58-3039A>C
c.644-3039A>C (n.644-3039A>C)
14g.94619302A>GCA390855838SERPINA3c.751A>G (p.Ile251Val)
c.97A>G (p.Ile33Val)
c.1714A>G
n.58-3039A>G
c.644-3039A>G (n.644-3039A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94619302A>TCA390855839SERPINA3c.751A>T (p.Ile251Leu)
c.97A>T (p.Ile33Leu)
c.1714A>T
n.58-3039A>T
c.644-3039A>T (n.644-3039A>T)
14g.94619303T>ACA390855842SERPINA3c.752T>A (p.Ile251Lys)
c.98T>A (p.Ile33Lys)
c.1715T>A
n.58-3038T>A
c.644-3038T>A (n.644-3038T>A)
14g.94619303T>CCA390855841SERPINA3c.752T>C (p.Ile251Thr)
c.98T>C (p.Ile33Thr)
c.1715T>C
n.58-3038T>C
c.644-3038T>C (n.644-3038T>C)
 dbSNP gnomAD v4 COSMIC
14g.94619303T>GCA390855840SERPINA3c.752T>G (p.Ile251Arg)
c.98T>G (p.Ile33Arg)
c.1715T>G
n.58-3038T>G
c.644-3038T>G (n.644-3038T>G)
14g.94619303T=CA2156074085SERPINA3c.752T= (p.Ile251=)
c.98T= (p.Ile33=)
c.1715T=
n.58-3038T=
c.644-3038T= (n.644-3038T=)
14g.94619304A>CCA487625220SERPINA3c.753A>C (p.Ile251=)
c.99A>C (p.Ile33=)
c.1716A>C
n.58-3037A>C
c.644-3037A>C (n.644-3037A>C)
14g.94619304A>GCA390855843SERPINA3c.753A>G (p.Ile251Met)
c.99A>G (p.Ile33Met)
c.1716A>G
n.58-3037A>G
c.644-3037A>G (n.644-3037A>G)
14g.94619304A>TCA487625221SERPINA3c.753A>T (p.Ile251=)
c.99A>T (p.Ile33=)
c.1716A>T
n.58-3037A>T
c.644-3037A>T (n.644-3037A>T)
14g.94619305C>ACA390855844SERPINA3c.754C>A (p.Pro252Thr)
c.100C>A (p.Pro34Thr)
c.1717C>A
n.58-3036C>A
c.644-3036C>A (n.644-3036C>A)
 gnomAD v4
14g.94619305C=CA2156074086SERPINA3c.754C= (p.Pro252=)
c.100C= (p.Pro34=)
c.1717C=
n.58-3036C=
c.644-3036C= (n.644-3036C=)
14g.94619305C>GCA127757SERPINA3c.754C>G (p.Pro252Ala)
c.100C>G (p.Pro34Ala)
c.1717C>G
n.58-3036C>G
c.644-3036C>G (n.644-3036C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619305C>TCA7329879SERPINA3c.754C>T (p.Pro252Ser)
c.100C>T (p.Pro34Ser)
c.1717C>T
n.58-3036C>T
c.644-3036C>T (n.644-3036C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619306C>ACA390855845SERPINA3c.755C>A (p.Pro252His)
c.101C>A (p.Pro34His)
c.1718C>A
n.58-3035C>A
c.644-3035C>A (n.644-3035C>A)
14g.94619306C>GCA390855846SERPINA3c.755C>G (p.Pro252Arg)
c.101C>G (p.Pro34Arg)
c.1718C>G
n.58-3035C>G
c.644-3035C>G (n.644-3035C>G)
14g.94619306C>TCA390855847SERPINA3c.755C>T (p.Pro252Leu)
c.101C>T (p.Pro34Leu)
c.1718C>T
n.58-3035C>T
c.644-3035C>T (n.644-3035C>T)
 gnomAD v4
14g.94619307T>ACA487625222SERPINA3c.756T>A (p.Pro252=)
c.102T>A (p.Pro34=)
c.1719T>A
n.58-3034T>A
c.644-3034T>A (n.644-3034T>A)
14g.94619307T>CCA487625223SERPINA3c.756T>C (p.Pro252=)
c.102T>C (p.Pro34=)
c.1719T>C
n.58-3034T>C
c.644-3034T>C (n.644-3034T>C)
14g.94619307T>GCA487625224SERPINA3c.756T>G (p.Pro252=)
c.102T>G (p.Pro34=)
c.1719T>G
n.58-3034T>G
c.644-3034T>G (n.644-3034T>G)
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

Number of alleles fetched