Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94619404G>ACA390856157SERPINA3c.853G>A (p.Glu285Lys)
c.199G>A (p.Glu67Lys)
c.1816G>A
n.58-2937G>A
c.644-2937G>A (n.644-2937G>A)
c.72G>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619404G>CCA390856159SERPINA3c.853G>C (p.Glu285Gln)
c.199G>C (p.Glu67Gln)
c.1816G>C
n.58-2937G>C
c.644-2937G>C (n.644-2937G>C)
c.72G>C
 COSMIC COSMIC
14g.94619404G=CA2156074133SERPINA3c.853G= (p.Glu285=)
c.199G= (p.Glu67=)
c.1816G=
n.58-2937G=
c.644-2937G= (n.644-2937G=)
c.72G=
14g.94619404G>TCA390856161SERPINA3c.853G>T (p.Glu285Ter)
c.199G>T (p.Glu67Ter)
c.1816G>T
n.58-2937G>T
c.644-2937G>T (n.644-2937G>T)
c.72G>T
14g.94619405A>CCA390856162SERPINA3c.854A>C (p.Glu285Ala)
c.200A>C (p.Glu67Ala)
c.1817A>C
n.58-2936A>C
c.644-2936A>C (n.644-2936A>C)
c.73A>C
14g.94619405A>GCA390856164SERPINA3c.854A>G (p.Glu285Gly)
c.200A>G (p.Glu67Gly)
c.1817A>G
n.58-2936A>G
c.644-2936A>G (n.644-2936A>G)
c.73A>G
14g.94619405A>TCA390856166SERPINA3c.854A>T (p.Glu285Val)
c.200A>T (p.Glu67Val)
c.1817A>T
n.58-2936A>T
c.644-2936A>T (n.644-2936A>T)
c.73A>T
14g.94619406G>ACA7329905SERPINA3c.855G>A (p.Glu285=)
c.201G>A (p.Glu67=)
c.1818G>A
n.58-2935G>A
c.644-2935G>A (n.644-2935G>A)
c.74G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619406G>CCA390856169SERPINA3c.855G>C (p.Glu285Asp)
c.201G>C (p.Glu67Asp)
c.1818G>C
n.58-2935G>C
c.644-2935G>C (n.644-2935G>C)
c.74G>C
14g.94619406G=CA2156074134SERPINA3c.855G= (p.Glu285=)
c.201G= (p.Glu67=)
c.1818G=
n.58-2935G=
c.644-2935G= (n.644-2935G=)
c.74G=
14g.94619406G>TCA390856171SERPINA3c.855G>T (p.Glu285Asp)
c.201G>T (p.Glu67Asp)
c.1818G>T
n.58-2935G>T
c.644-2935G>T (n.644-2935G>T)
c.74G>T
14g.94619407G>ACA390856178SERPINA3c.856G>A (p.Glu286Lys)
c.202G>A (p.Glu68Lys)
c.1819G>A
n.58-2934G>A
c.644-2934G>A (n.644-2934G>A)
c.75G>A
 gnomAD v4
14g.94619407G>CCA390856175SERPINA3c.856G>C (p.Glu286Gln)
c.202G>C (p.Glu68Gln)
c.1819G>C
n.58-2934G>C
c.644-2934G>C (n.644-2934G>C)
c.75G>C
14g.94619407G>TCA390856176SERPINA3c.856G>T (p.Glu286Ter)
c.202G>T (p.Glu68Ter)
c.1819G>T
n.58-2934G>T
c.644-2934G>T (n.644-2934G>T)
c.75G>T
14g.94619408A=CA2156074135SERPINA3c.857A= (p.Glu286=)
c.203A= (p.Glu68=)
c.1820A=
n.58-2933A=
c.644-2933A= (n.644-2933A=)
c.76A=
14g.94619408A>CCA390856180SERPINA3c.857A>C (p.Glu286Ala)
c.203A>C (p.Glu68Ala)
c.1820A>C
n.58-2933A>C
c.644-2933A>C (n.644-2933A>C)
c.76A>C
14g.94619408A>GCA390856181SERPINA3c.857A>G (p.Glu286Gly)
c.203A>G (p.Glu68Gly)
c.1820A>G
n.58-2933A>G
c.644-2933A>G (n.644-2933A>G)
c.76A>G
14g.94619408A>TCA265885192SERPINA3c.857A>T (p.Glu286Val)
c.203A>T (p.Glu68Val)
c.1820A>T
n.58-2933A>T
c.644-2933A>T (n.644-2933A>T)
c.76A>T
 dbSNP
14g.94619409A>CCA390856183SERPINA3c.858A>C (p.Glu286Asp)
c.204A>C (p.Glu68Asp)
c.1821A>C
n.58-2932A>C
c.644-2932A>C (n.644-2932A>C)
c.77A>C
14g.94619409A>GCA487625278SERPINA3c.858A>G (p.Glu286=)
c.204A>G (p.Glu68=)
c.1821A>G
n.58-2932A>G
c.644-2932A>G (n.644-2932A>G)
c.77A>G
14g.94619409A>TCA390856185SERPINA3c.858A>T (p.Glu286Asp)
c.204A>T (p.Glu68Asp)
c.1821A>T
n.58-2932A>T
c.644-2932A>T (n.644-2932A>T)
c.77A>T
14g.94619410G>ACA390856188SERPINA3c.859G>A (p.Val287Met)
c.205G>A (p.Val69Met)
c.1822G>A
n.58-2931G>A
c.644-2931G>A (n.644-2931G>A)
c.78G>A
 dbSNP gnomAD v2 gnomAD v4
14g.94619410G>CCA390856190SERPINA3c.859G>C (p.Val287Leu)
c.205G>C (p.Val69Leu)
c.1822G>C
n.58-2931G>C
c.644-2931G>C (n.644-2931G>C)
c.78G>C
14g.94619410G=CA2156074136SERPINA3c.859G= (p.Val287=)
c.205G= (p.Val69=)
c.1822G=
n.58-2931G=
c.644-2931G= (n.644-2931G=)
c.78G=
14g.94619410G>TCA390856191SERPINA3c.859G>T (p.Val287Leu)
c.205G>T (p.Val69Leu)
c.1822G>T
n.58-2931G>T
c.644-2931G>T (n.644-2931G>T)
c.78G>T
14g.94619411T>ACA390856194SERPINA3c.860T>A (p.Val287Glu)
c.206T>A (p.Val69Glu)
c.1823T>A
n.58-2930T>A
c.644-2930T>A (n.644-2930T>A)
c.79T>A
14g.94619411T>CCA390856196SERPINA3c.860T>C (p.Val287Ala)
c.206T>C (p.Val69Ala)
c.1823T>C
n.58-2930T>C
c.644-2930T>C (n.644-2930T>C)
c.79T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619411T>GCA390856197SERPINA3c.860T>G (p.Val287Gly)
c.206T>G (p.Val69Gly)
c.1823T>G
n.58-2930T>G
c.644-2930T>G (n.644-2930T>G)
c.79T>G
 dbSNP
14g.94619411T=CA2156074137SERPINA3c.860T= (p.Val287=)
c.206T= (p.Val69=)
c.1823T=
n.58-2930T=
c.644-2930T= (n.644-2930T=)
c.79T=
14g.94619412G>ACA265885200SERPINA3c.861G>A (p.Val287=)
c.207G>A (p.Val69=)
c.1824G>A
n.58-2929G>A
c.644-2929G>A (n.644-2929G>A)
c.80G>A
 dbSNP gnomAD v4 COSMIC COSMIC
14g.94619412G>CCA487625279SERPINA3c.861G>C (p.Val287=)
c.207G>C (p.Val69=)
c.1824G>C
n.58-2929G>C
c.644-2929G>C (n.644-2929G>C)
c.80G>C
14g.94619412G=CA2156074138SERPINA3c.861G= (p.Val287=)
c.207G= (p.Val69=)
c.1824G=
n.58-2929G=
c.644-2929G= (n.644-2929G=)
c.80G=
14g.94619412G>TCA487625280SERPINA3c.861G>T (p.Val287=)
c.207G>T (p.Val69=)
c.1824G>T
n.58-2929G>T
c.644-2929G>T (n.644-2929G>T)
c.80G>T
14g.94619413G>ACA7329906SERPINA3c.862G>A (p.Glu288Lys)
c.208G>A (p.Glu70Lys)
c.1825G>A
n.58-2928G>A
c.644-2928G>A (n.644-2928G>A)
c.81G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619413G>CCA390856202SERPINA3c.862G>C (p.Glu288Gln)
c.208G>C (p.Glu70Gln)
c.1825G>C
n.58-2928G>C
c.644-2928G>C (n.644-2928G>C)
c.81G>C
14g.94619413G=CA2156074139SERPINA3c.862G= (p.Glu288=)
c.208G= (p.Glu70=)
c.1825G=
n.58-2928G=
c.644-2928G= (n.644-2928G=)
c.81G=
14g.94619413G>TCA390856200SERPINA3c.862G>T (p.Glu288Ter)
c.208G>T (p.Glu70Ter)
c.1825G>T
n.58-2928G>T
c.644-2928G>T (n.644-2928G>T)
c.81G>T
14g.94619414A=CA2156074140SERPINA3c.863A= (p.Glu288=)
c.209A= (p.Glu70=)
c.1826A=
n.58-2927A=
c.644-2927A= (n.644-2927A=)
c.82A=
14g.94619414A>CCA390856205SERPINA3c.863A>C (p.Glu288Ala)
c.209A>C (p.Glu70Ala)
c.1826A>C
n.58-2927A>C
c.644-2927A>C (n.644-2927A>C)
c.82A>C
14g.94619414A>GCA265885204SERPINA3c.863A>G (p.Glu288Gly)
c.209A>G (p.Glu70Gly)
c.1826A>G
n.58-2927A>G
c.644-2927A>G (n.644-2927A>G)
c.82A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619414A>TCA390856208SERPINA3c.863A>T (p.Glu288Val)
c.209A>T (p.Glu70Val)
c.1826A>T
n.58-2927A>T
c.644-2927A>T (n.644-2927A>T)
c.82A>T
14g.94619415A>CCA390856210SERPINA3c.864A>C (p.Glu288Asp)
c.210A>C (p.Glu70Asp)
c.1827A>C
n.58-2926A>C
c.644-2926A>C (n.644-2926A>C)
c.83A>C
14g.94619415A>GCA487625281SERPINA3c.864A>G (p.Glu288=)
c.210A>G (p.Glu70=)
c.1827A>G
n.58-2926A>G
c.644-2926A>G (n.644-2926A>G)
c.83A>G
14g.94619415A>TCA390856212SERPINA3c.864A>T (p.Glu288Asp)
c.210A>T (p.Glu70Asp)
c.1827A>T
n.58-2926A>T
c.644-2926A>T (n.644-2926A>T)
c.83A>T
 gnomAD v4
14g.94619416G>ACA390856214SERPINA3c.865G>A (p.Ala289Thr)
c.211G>A (p.Ala71Thr)
c.1828G>A
n.58-2925G>A
c.644-2925G>A (n.644-2925G>A)
c.84G>A
 gnomAD v4
14g.94619416G>CCA390856215SERPINA3c.865G>C (p.Ala289Pro)
c.211G>C (p.Ala71Pro)
c.1828G>C
n.58-2925G>C
c.644-2925G>C (n.644-2925G>C)
c.84G>C
14g.94619416G>TCA390856218SERPINA3c.865G>T (p.Ala289Ser)
c.211G>T (p.Ala71Ser)
c.1828G>T
n.58-2925G>T
c.644-2925G>T (n.644-2925G>T)
c.84G>T
14g.94619417C>ACA390856220SERPINA3c.866C>A (p.Ala289Asp)
c.212C>A (p.Ala71Asp)
c.1829C>A
n.58-2924C>A
c.644-2924C>A (n.644-2924C>A)
c.85C>A
14g.94619417C>GCA390856222SERPINA3c.866C>G (p.Ala289Gly)
c.212C>G (p.Ala71Gly)
c.1829C>G
n.58-2924C>G
c.644-2924C>G (n.644-2924C>G)
c.85C>G
14g.94619417C>TCA390856224SERPINA3c.866C>T (p.Ala289Val)
c.212C>T (p.Ala71Val)
c.1829C>T
n.58-2924C>T
c.644-2924C>T (n.644-2924C>T)
c.85C>T
14g.94619418C>ACA487625282SERPINA3c.867C>A (p.Ala289=)
c.213C>A (p.Ala71=)
c.1830C>A
n.58-2923C>A
c.644-2923C>A (n.644-2923C>A)
c.86C>A
14g.94619418C=CA2156074141SERPINA3c.867C= (p.Ala289=)
c.213C= (p.Ala71=)
c.1830C=
n.58-2923C=
c.644-2923C= (n.644-2923C=)
c.86C=
14g.94619418C>GCA7329908SERPINA3c.867C>G (p.Ala289=)
c.213C>G (p.Ala71=)
c.1830C>G
n.58-2923C>G
c.644-2923C>G (n.644-2923C>G)
c.86C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619418C>TCA7329907SERPINA3c.867C>T (p.Ala289=)
c.213C>T (p.Ala71=)
c.1830C>T
n.58-2923C>T
c.644-2923C>T (n.644-2923C>T)
c.86C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619419A=CA2156074142SERPINA3c.868A= (p.Met290=)
c.214A= (p.Met72=)
c.1831A=
n.58-2922A=
c.644-2922A= (n.644-2922A=)
c.87A=
14g.94619419A>CCA265885236SERPINA3c.868A>C (p.Met290Leu)
c.214A>C (p.Met72Leu)
c.1831A>C
n.58-2922A>C
c.644-2922A>C (n.644-2922A>C)
c.87A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619419A>GCA390856228SERPINA3c.868A>G (p.Met290Val)
c.214A>G (p.Met72Val)
c.1831A>G
n.58-2922A>G
c.644-2922A>G (n.644-2922A>G)
c.87A>G
 dbSNP
14g.94619419A>TCA7329909SERPINA3c.868A>T (p.Met290Leu)
c.214A>T (p.Met72Leu)
c.1831A>T
n.58-2922A>T
c.644-2922A>T (n.644-2922A>T)
c.87A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619419_94619420delinsCACA645581952SERPINA3c.868_869delinsCA (p.Met290Gln)
c.214_215delinsCA (p.Met72Gln)
c.1831_1832delinsCA
n.58-2922_58-2921delinsCA
c.644-2922_644-2921delinsCA (n.644-2922_644-2921delinsCA)
c.87_88delinsCA
 COSMIC COSMIC
14g.94619420T>ACA265885258SERPINA3c.869T>A (p.Met290Lys)
c.215T>A (p.Met72Lys)
c.1832T>A
n.58-2921T>A
c.644-2921T>A (n.644-2921T>A)
c.88T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619420T>CCA390856230SERPINA3c.869T>C (p.Met290Thr)
c.215T>C (p.Met72Thr)
c.1832T>C
n.58-2921T>C
c.644-2921T>C (n.644-2921T>C)
c.88T>C
14g.94619420T>GCA390856232SERPINA3c.869T>G (p.Met290Arg)
c.215T>G (p.Met72Arg)
c.1832T>G
n.58-2921T>G
c.644-2921T>G (n.644-2921T>G)
c.88T>G
14g.94619420T=CA2156074143SERPINA3c.869T= (p.Met290=)
c.215T= (p.Met72=)
c.1832T=
n.58-2921T=
c.644-2921T= (n.644-2921T=)
c.88T=
14g.94619421G>ACA390856235SERPINA3c.870G>A (p.Met290Ile)
c.216G>A (p.Met72Ile)
c.1833G>A
n.58-2920G>A
c.644-2920G>A (n.644-2920G>A)
c.89G>A
 dbSNP
14g.94619421G>CCA390856236SERPINA3c.870G>C (p.Met290Ile)
c.216G>C (p.Met72Ile)
c.1833G>C
n.58-2920G>C
c.644-2920G>C (n.644-2920G>C)
c.89G>C
 gnomAD v4
14g.94619421G=CA2156074144SERPINA3c.870G= (p.Met290=)
c.216G= (p.Met72=)
c.1833G=
n.58-2920G=
c.644-2920G= (n.644-2920G=)
c.89G=
14g.94619421G>TCA7329910SERPINA3c.870G>T (p.Met290Ile)
c.216G>T (p.Met72Ile)
c.1833G>T
n.58-2920G>T
c.644-2920G>T (n.644-2920G>T)
c.89G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619422C>ACA390856239SERPINA3c.871C>A (p.Leu291Met)
c.217C>A (p.Leu73Met)
c.1834C>A
n.58-2919C>A
c.644-2919C>A (n.644-2919C>A)
c.90C>A
14g.94619422C=CA2156074145SERPINA3c.871C= (p.Leu291=)
c.217C= (p.Leu73=)
c.1834C=
n.58-2919C=
c.644-2919C= (n.644-2919C=)
c.90C=
14g.94619422C>GCA390856241SERPINA3c.871C>G (p.Leu291Val)
c.217C>G (p.Leu73Val)
c.1834C>G
n.58-2919C>G
c.644-2919C>G (n.644-2919C>G)
c.90C>G
 dbSNP gnomAD v4
14g.94619422C>TCA487625283SERPINA3c.871C>T (p.Leu291=)
c.217C>T (p.Leu73=)
c.1834C>T
n.58-2919C>T
c.644-2919C>T (n.644-2919C>T)
c.90C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619423T>ACA390856244SERPINA3c.872T>A (p.Leu291Gln)
c.218T>A (p.Leu73Gln)
c.1835T>A
n.58-2918T>A
c.644-2918T>A (n.644-2918T>A)
c.91T>A
14g.94619423T>CCA390856245SERPINA3c.872T>C (p.Leu291Pro)
c.218T>C (p.Leu73Pro)
c.1835T>C
n.58-2918T>C
c.644-2918T>C (n.644-2918T>C)
c.91T>C
14g.94619423T>GCA390856247SERPINA3c.872T>G (p.Leu291Arg)
c.218T>G (p.Leu73Arg)
c.1835T>G
n.58-2918T>G
c.644-2918T>G (n.644-2918T>G)
c.91T>G
14g.94619424G>ACA487625284SERPINA3c.873G>A (p.Leu291=)
c.219G>A (p.Leu73=)
c.1836G>A
n.58-2917G>A
c.644-2917G>A (n.644-2917G>A)
c.92G>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619424G>CCA487625285SERPINA3c.873G>C (p.Leu291=)
c.219G>C (p.Leu73=)
c.1836G>C
n.58-2917G>C
c.644-2917G>C (n.644-2917G>C)
c.92G>C
14g.94619424G=CA2156074146SERPINA3c.873G= (p.Leu291=)
c.219G= (p.Leu73=)
c.1836G=
n.58-2917G=
c.644-2917G= (n.644-2917G=)
c.92G=
14g.94619424G>TCA487625286SERPINA3c.873G>T (p.Leu291=)
c.219G>T (p.Leu73=)
c.1836G>T
n.58-2917G>T
c.644-2917G>T (n.644-2917G>T)
c.92G>T
14g.94619425C>ACA390856249SERPINA3c.874C>A (p.Leu292Ile)
c.220C>A (p.Leu74Ile)
c.1837C>A
n.58-2916C>A
c.644-2916C>A (n.644-2916C>A)
c.93C>A
14g.94619425C=CA2156074147SERPINA3c.874C= (p.Leu292=)
c.220C= (p.Leu74=)
c.1837C=
n.58-2916C=
c.644-2916C= (n.644-2916C=)
c.93C=
14g.94619425C>GCA390856251SERPINA3c.874C>G (p.Leu292Val)
c.220C>G (p.Leu74Val)
c.1837C>G
n.58-2916C>G
c.644-2916C>G (n.644-2916C>G)
c.93C>G
14g.94619425C>TCA390856253SERPINA3c.874C>T (p.Leu292Phe)
c.220C>T (p.Leu74Phe)
c.1837C>T
n.58-2916C>T
c.644-2916C>T (n.644-2916C>T)
c.93C>T
 dbSNP
14g.94619426T>ACA390856257SERPINA3c.875T>A (p.Leu292His)
c.221T>A (p.Leu74His)
c.1838T>A
n.58-2915T>A
c.644-2915T>A (n.644-2915T>A)
c.94T>A
 gnomAD v4
14g.94619426T>CCA390856258SERPINA3c.875T>C (p.Leu292Pro)
c.221T>C (p.Leu74Pro)
c.1838T>C
n.58-2915T>C
c.644-2915T>C (n.644-2915T>C)
c.94T>C
 gnomAD v4
14g.94619426T>GCA390856255SERPINA3c.875T>G (p.Leu292Arg)
c.221T>G (p.Leu74Arg)
c.1838T>G
n.58-2915T>G
c.644-2915T>G (n.644-2915T>G)
c.94T>G
 gnomAD v4
14g.94619427C>ACA7329911SERPINA3c.876C>A (p.Leu292=)
c.222C>A (p.Leu74=)
c.1839C>A
n.58-2914C>A
c.644-2914C>A (n.644-2914C>A)
c.95C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619427C=CA2156074148SERPINA3c.876C= (p.Leu292=)
c.222C= (p.Leu74=)
c.1839C=
n.58-2914C=
c.644-2914C= (n.644-2914C=)
c.95C=
14g.94619427C>GCA487625287SERPINA3c.876C>G (p.Leu292=)
c.222C>G (p.Leu74=)
c.1839C>G
n.58-2914C>G
c.644-2914C>G (n.644-2914C>G)
c.95C>G
14g.94619427C>TCA487625288SERPINA3c.876C>T (p.Leu292=)
c.222C>T (p.Leu74=)
c.1839C>T
n.58-2914C>T
c.644-2914C>T (n.644-2914C>T)
c.95C>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619427_94619428insTGGCA2626330357SERPINA3c.876_877insTGG (p.Leu292_Pro293insTrp)
c.222_223insTGG (p.Leu74_Pro75insTrp)
c.1839_1840insTGG
n.58-2914_58-2913insTGG
c.644-2914_644-2913insTGG (n.644-2914_644-2913insTGG)
c.95_96insTGG
 gnomAD v4
14g.94619428C>ACA390856261SERPINA3c.877C>A (p.Pro293Thr)
c.223C>A (p.Pro75Thr)
c.1840C>A
n.58-2913C>A
c.644-2913C>A (n.644-2913C>A)
c.96C>A
14g.94619428C>GCA390856263SERPINA3c.877C>G (p.Pro293Ala)
c.223C>G (p.Pro75Ala)
c.1840C>G
n.58-2913C>G
c.644-2913C>G (n.644-2913C>G)
c.96C>G
14g.94619428C>TCA390856265SERPINA3c.877C>T (p.Pro293Ser)
c.223C>T (p.Pro75Ser)
c.1840C>T
n.58-2913C>T
c.644-2913C>T (n.644-2913C>T)
c.96C>T
14g.94619429C>ACA390856267SERPINA3c.878C>A (p.Pro293Gln)
c.224C>A (p.Pro75Gln)
c.1841C>A
n.58-2912C>A
c.644-2912C>A (n.644-2912C>A)
c.97C>A
14g.94619429C=CA2156074149SERPINA3c.878C= (p.Pro293=)
c.224C= (p.Pro75=)
c.1841C=
n.58-2912C=
c.644-2912C= (n.644-2912C=)
c.97C=
14g.94619429C>GCA390856269SERPINA3c.878C>G (p.Pro293Arg)
c.224C>G (p.Pro75Arg)
c.1841C>G
n.58-2912C>G
c.644-2912C>G (n.644-2912C>G)
c.97C>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619429C>TCA390856270SERPINA3c.878C>T (p.Pro293Leu)
c.224C>T (p.Pro75Leu)
c.1841C>T
n.58-2912C>T
c.644-2912C>T (n.644-2912C>T)
c.97C>T
14g.94619430A>CCA487625291SERPINA3c.879A>C (p.Pro293=)
c.225A>C (p.Pro75=)
c.1842A>C
n.58-2911A>C
c.644-2911A>C (n.644-2911A>C)
c.98A>C
 gnomAD v4
14g.94619430A>GCA487625290SERPINA3c.879A>G (p.Pro293=)
c.225A>G (p.Pro75=)
c.1842A>G
n.58-2911A>G
c.644-2911A>G (n.644-2911A>G)
c.98A>G
14g.94619430A>TCA487625289SERPINA3c.879A>T (p.Pro293=)
c.225A>T (p.Pro75=)
c.1842A>T
n.58-2911A>T
c.644-2911A>T (n.644-2911A>T)
c.98A>T
 gnomAD v4
14g.94619431G>ACA390856272SERPINA3c.880G>A (p.Glu294Lys)
c.226G>A (p.Glu76Lys)
c.1843G>A
n.58-2910G>A
c.644-2910G>A (n.644-2910G>A)
c.99G>A
 COSMIC COSMIC
14g.94619431G>CCA390856274SERPINA3c.880G>C (p.Glu294Gln)
c.226G>C (p.Glu76Gln)
c.1843G>C
n.58-2910G>C
c.644-2910G>C (n.644-2910G>C)
c.99G>C
14g.94619431G>TCA390856276SERPINA3c.880G>T (p.Glu294Ter)
c.226G>T (p.Glu76Ter)
c.1843G>T
n.58-2910G>T
c.644-2910G>T (n.644-2910G>T)
c.99G>T
14g.94619432A>CCA390856278SERPINA3c.881A>C (p.Glu294Ala)
c.227A>C (p.Glu76Ala)
c.1844A>C
n.58-2909A>C
c.644-2909A>C (n.644-2909A>C)
c.100A>C
14g.94619432A>GCA390856279SERPINA3c.881A>G (p.Glu294Gly)
c.227A>G (p.Glu76Gly)
c.1844A>G
n.58-2909A>G
c.644-2909A>G (n.644-2909A>G)
c.100A>G
 gnomAD v4
14g.94619432A>TCA390856280SERPINA3c.881A>T (p.Glu294Val)
c.227A>T (p.Glu76Val)
c.1844A>T
n.58-2909A>T
c.644-2909A>T (n.644-2909A>T)
c.100A>T
14g.94619433G>ACA487625292SERPINA3c.882G>A (p.Glu294=)
c.228G>A (p.Glu76=)
c.1845G>A
n.58-2908G>A
c.644-2908G>A (n.644-2908G>A)
c.101G>A
14g.94619433G>CCA390856284SERPINA3c.882G>C (p.Glu294Asp)
c.228G>C (p.Glu76Asp)
c.1845G>C
n.58-2908G>C
c.644-2908G>C (n.644-2908G>C)
c.101G>C
14g.94619433G>TCA390856283SERPINA3c.882G>T (p.Glu294Asp)
c.228G>T (p.Glu76Asp)
c.1845G>T
n.58-2908G>T
c.644-2908G>T (n.644-2908G>T)
c.101G>T
14g.94619434A>CCA390856286SERPINA3c.883A>C (p.Thr295Pro)
c.229A>C (p.Thr77Pro)
c.1846A>C
n.58-2907A>C
c.644-2907A>C (n.644-2907A>C)
c.102A>C
14g.94619434A>GCA390856288SERPINA3c.883A>G (p.Thr295Ala)
c.229A>G (p.Thr77Ala)
c.1846A>G
n.58-2907A>G
c.644-2907A>G (n.644-2907A>G)
c.102A>G
14g.94619434A>TCA390856290SERPINA3c.883A>T (p.Thr295Ser)
c.229A>T (p.Thr77Ser)
c.1846A>T
n.58-2907A>T
c.644-2907A>T (n.644-2907A>T)
c.102A>T
14g.94619435C>ACA390856292SERPINA3c.884C>A (p.Thr295Asn)
c.230C>A (p.Thr77Asn)
c.1847C>A
n.58-2906C>A
c.644-2906C>A (n.644-2906C>A)
c.103C>A
 dbSNP gnomAD v4
14g.94619435C=CA2156074150SERPINA3c.884C= (p.Thr295=)
c.230C= (p.Thr77=)
c.1847C=
n.58-2906C=
c.644-2906C= (n.644-2906C=)
c.103C=
14g.94619435C>GCA390856294SERPINA3c.884C>G (p.Thr295Ser)
c.230C>G (p.Thr77Ser)
c.1847C>G
n.58-2906C>G
c.644-2906C>G (n.644-2906C>G)
c.103C>G
14g.94619435C>TCA390856296SERPINA3c.884C>T (p.Thr295Ile)
c.230C>T (p.Thr77Ile)
c.1847C>T
n.58-2906C>T
c.644-2906C>T (n.644-2906C>T)
c.103C>T
 gnomAD v4
14g.94619436C>ACA487625293SERPINA3c.885C>A (p.Thr295=)
c.231C>A (p.Thr77=)
c.1848C>A
n.58-2905C>A
c.644-2905C>A (n.644-2905C>A)
c.104C>A
 gnomAD v4
14g.94619436C=CA2156074151SERPINA3c.885C= (p.Thr295=)
c.231C= (p.Thr77=)
c.1848C=
n.58-2905C=
c.644-2905C= (n.644-2905C=)
c.104C=
14g.94619436C>GCA487625294SERPINA3c.885C>G (p.Thr295=)
c.231C>G (p.Thr77=)
c.1848C>G
n.58-2905C>G
c.644-2905C>G (n.644-2905C>G)
c.104C>G
 dbSNP gnomAD v2 gnomAD v4
14g.94619436C>TCA7329912SERPINA3c.885C>T (p.Thr295=)
c.231C>T (p.Thr77=)
c.1848C>T
n.58-2905C>T
c.644-2905C>T (n.644-2905C>T)
c.104C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619437C>ACA390856299SERPINA3c.886C>A (p.Leu296Met)
c.232C>A (p.Leu78Met)
c.1849C>A
n.58-2904C>A
c.644-2904C>A (n.644-2904C>A)
c.105C>A
14g.94619437C>GCA390856301SERPINA3c.886C>G (p.Leu296Val)
c.232C>G (p.Leu78Val)
c.1849C>G
n.58-2904C>G
c.644-2904C>G (n.644-2904C>G)
c.105C>G
14g.94619437C>TCA487625295SERPINA3c.886C>T (p.Leu296=)
c.232C>T (p.Leu78=)
c.1849C>T
n.58-2904C>T
c.644-2904C>T (n.644-2904C>T)
c.105C>T
14g.94619438T>ACA390856303SERPINA3c.887T>A (p.Leu296Gln)
c.233T>A (p.Leu78Gln)
c.1850T>A
n.58-2903T>A
c.644-2903T>A (n.644-2903T>A)
c.106T>A
14g.94619438T>CCA390856304SERPINA3c.887T>C (p.Leu296Pro)
c.233T>C (p.Leu78Pro)
c.1850T>C
n.58-2903T>C
c.644-2903T>C (n.644-2903T>C)
c.106T>C
14g.94619438T>GCA390856306SERPINA3c.887T>G (p.Leu296Arg)
c.233T>G (p.Leu78Arg)
c.1850T>G
n.58-2903T>G
c.644-2903T>G (n.644-2903T>G)
c.106T>G
14g.94619439G>ACA487625296SERPINA3c.888G>A (p.Leu296=)
c.234G>A (p.Leu78=)
c.1851G>A
n.58-2902G>A
c.644-2902G>A (n.644-2902G>A)
c.107G>A
14g.94619439G>CCA487625297SERPINA3c.888G>C (p.Leu296=)
c.234G>C (p.Leu78=)
c.1851G>C
n.58-2902G>C
c.644-2902G>C (n.644-2902G>C)
c.107G>C
14g.94619439G>TCA487625298SERPINA3c.888G>T (p.Leu296=)
c.234G>T (p.Leu78=)
c.1851G>T
n.58-2902G>T
c.644-2902G>T (n.644-2902G>T)
c.107G>T
14g.94619440A>CCA390856308SERPINA3c.889A>C (p.Lys297Gln)
c.235A>C (p.Lys79Gln)
c.1852A>C
n.58-2901A>C
c.644-2901A>C (n.644-2901A>C)
c.108A>C
14g.94619440A>GCA390856312SERPINA3c.889A>G (p.Lys297Glu)
c.235A>G (p.Lys79Glu)
c.1852A>G
n.58-2901A>G
c.644-2901A>G (n.644-2901A>G)
c.108A>G
14g.94619440A>TCA390856309SERPINA3c.889A>T (p.Lys297Ter)
c.235A>T (p.Lys79Ter)
c.1852A>T
n.58-2901A>T
c.644-2901A>T (n.644-2901A>T)
c.108A>T
14g.94619441A>CCA390856315SERPINA3c.890A>C (p.Lys297Thr)
c.236A>C (p.Lys79Thr)
c.1853A>C
n.58-2900A>C
c.644-2900A>C (n.644-2900A>C)
c.109A>C
14g.94619441A>GCA390856318SERPINA3c.890A>G (p.Lys297Arg)
c.236A>G (p.Lys79Arg)
c.1853A>G
n.58-2900A>G
c.644-2900A>G (n.644-2900A>G)
c.109A>G
14g.94619441A>TCA390856317SERPINA3c.890A>T (p.Lys297Met)
c.236A>T (p.Lys79Met)
c.1853A>T
n.58-2900A>T
c.644-2900A>T (n.644-2900A>T)
c.109A>T
14g.94619442G>ACA487625299SERPINA3c.891G>A (p.Lys297=)
c.237G>A (p.Lys79=)
c.1854G>A
n.58-2899G>A
c.644-2899G>A (n.644-2899G>A)
c.110G>A
 gnomAD v4
14g.94619442G>CCA7329913SERPINA3c.891G>C (p.Lys297Asn)
c.237G>C (p.Lys79Asn)
c.1854G>C
n.58-2899G>C
c.644-2899G>C (n.644-2899G>C)
c.110G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619442G=CA2156074152SERPINA3c.891G= (p.Lys297=)
c.237G= (p.Lys79=)
c.1854G=
n.58-2899G=
c.644-2899G= (n.644-2899G=)
c.110G=
14g.94619442G>TCA390856322SERPINA3c.891G>T (p.Lys297Asn)
c.237G>T (p.Lys79Asn)
c.1854G>T
n.58-2899G>T
c.644-2899G>T (n.644-2899G>T)
c.110G>T
14g.94619443C>ACA7329915SERPINA3c.892C>A (p.Arg298=)
c.238C>A (p.Arg80=)
c.1855C>A
n.58-2898C>A
c.644-2898C>A (n.644-2898C>A)
c.111C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619443C=CA2156074153SERPINA3c.892C= (p.Arg298=)
c.238C= (p.Arg80=)
c.1855C=
n.58-2898C=
c.644-2898C= (n.644-2898C=)
c.111C=
14g.94619443C>GCA390856326SERPINA3c.892C>G (p.Arg298Gly)
c.238C>G (p.Arg80Gly)
c.1855C>G
n.58-2898C>G
c.644-2898C>G (n.644-2898C>G)
c.111C>G
14g.94619443C>TCA7329914SERPINA3c.892C>T (p.Arg298Trp)
c.238C>T (p.Arg80Trp)
c.1855C>T
n.58-2898C>T
c.644-2898C>T (n.644-2898C>T)
c.111C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619444G>ACA7329916SERPINA3c.893G>A (p.Arg298Gln)
c.239G>A (p.Arg80Gln)
c.1856G>A
n.58-2897G>A
c.644-2897G>A (n.644-2897G>A)
c.112G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619444G>CCA390856331SERPINA3c.893G>C (p.Arg298Pro)
c.239G>C (p.Arg80Pro)
c.1856G>C
n.58-2897G>C
c.644-2897G>C (n.644-2897G>C)
c.112G>C
14g.94619444G=CA2156074154SERPINA3c.893G= (p.Arg298=)
c.239G= (p.Arg80=)
c.1856G=
n.58-2897G=
c.644-2897G= (n.644-2897G=)
c.112G=
14g.94619444G>TCA390856329SERPINA3c.893G>T (p.Arg298Leu)
c.239G>T (p.Arg80Leu)
c.1856G>T
n.58-2897G>T
c.644-2897G>T (n.644-2897G>T)
c.112G>T
14g.94619445G>ACA487625300SERPINA3c.894G>A (p.Arg298=)
c.240G>A (p.Arg80=)
c.1857G>A
n.58-2896G>A
c.644-2896G>A (n.644-2896G>A)
c.113G>A
14g.94619445G>CCA487625301SERPINA3c.894G>C (p.Arg298=)
c.240G>C (p.Arg80=)
c.1857G>C
n.58-2896G>C
c.644-2896G>C (n.644-2896G>C)
c.113G>C
 dbSNP
14g.94619445G=CA2156074155SERPINA3c.894G= (p.Arg298=)
c.240G= (p.Arg80=)
c.1857G=
n.58-2896G=
c.644-2896G= (n.644-2896G=)
c.113G=
14g.94619445G>TCA487625302SERPINA3c.894G>T (p.Arg298=)
c.240G>T (p.Arg80=)
c.1857G>T
n.58-2896G>T
c.644-2896G>T (n.644-2896G>T)
c.113G>T
 gnomAD v4
14g.94619446T>ACA390856333SERPINA3c.895T>A (p.Trp299Arg)
c.241T>A (p.Trp81Arg)
c.1858T>A
n.58-2895T>A
c.644-2895T>A (n.644-2895T>A)
c.114T>A
 gnomAD v4
14g.94619446T>CCA390856334SERPINA3c.895T>C (p.Trp299Arg)
c.241T>C (p.Trp81Arg)
c.1858T>C
n.58-2895T>C
c.644-2895T>C (n.644-2895T>C)
c.114T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619446T>GCA390856336SERPINA3c.895T>G (p.Trp299Gly)
c.241T>G (p.Trp81Gly)
c.1858T>G
n.58-2895T>G
c.644-2895T>G (n.644-2895T>G)
c.114T>G
 dbSNP
14g.94619446T=CA2156074156SERPINA3c.895T= (p.Trp299=)
c.241T= (p.Trp81=)
c.1858T=
n.58-2895T=
c.644-2895T= (n.644-2895T=)
c.114T=
14g.94619447G>ACA390856337SERPINA3c.896G>A (p.Trp299Ter)
c.242G>A (p.Trp81Ter)
c.1859G>A
n.58-2894G>A
c.644-2894G>A (n.644-2894G>A)
c.115G>A
 COSMIC COSMIC
14g.94619447G>CCA390856339SERPINA3c.896G>C (p.Trp299Ser)
c.242G>C (p.Trp81Ser)
c.1859G>C
n.58-2894G>C
c.644-2894G>C (n.644-2894G>C)
c.115G>C
14g.94619447G>TCA390856341SERPINA3c.896G>T (p.Trp299Leu)
c.242G>T (p.Trp81Leu)
c.1859G>T
n.58-2894G>T
c.644-2894G>T (n.644-2894G>T)
c.115G>T
14g.94619447_94619449delinsGGACA2156074157SERPINA3c.896_898delinsGGA (p.Trp299=)
c.242_244delinsGGA (p.Trp81=)
c.1859_1861delinsGGA
n.58-2894_58-2892delinsGGA
c.644-2894_644-2892delinsGGA (n.644-2894_644-2892delinsGGA)
c.115_117delinsGGA
14g.94619448G>ACA390856343SERPINA3c.897G>A (p.Trp299Ter)
c.243G>A (p.Trp81Ter)
c.1860G>A
n.58-2893G>A
c.644-2893G>A (n.644-2893G>A)
c.116G>A
 gnomAD v4
14g.94619448G>CCA390856345SERPINA3c.897G>C (p.Trp299Cys)
c.243G>C (p.Trp81Cys)
c.1860G>C
n.58-2893G>C
c.644-2893G>C (n.644-2893G>C)
c.116G>C
14g.94619448G>TCA390856347SERPINA3c.897G>T (p.Trp299Cys)
c.243G>T (p.Trp81Cys)
c.1860G>T
n.58-2893G>T
c.644-2893G>T (n.644-2893G>T)
c.116G>T
14g.94619452_94619453delCA710133485SERPINA3c.901_902del (p.Asp301LeufsTer9)
c.247_248del (p.Asp83LeufsTer9)
c.1864_1865del
c.901_902del (p.Asp301LeufsTer?)
n.58-2889_58-2888del
c.644-2889_644-2888del (n.644-2889_644-2888del)
c.120_121del
 dbSNP gnomAD v3 gnomAD v4
14g.94619450_94619453delCA2626330358SERPINA3c.899_902del (p.Arg300ThrfsTer8)
c.245_248del (p.Arg82ThrfsTer8)
c.1862_1865del
c.899_902del (p.Arg300ThrfsTer?)
n.58-2891_58-2888del
c.644-2891_644-2888del (n.644-2891_644-2888del)
c.118_121del
 gnomAD v4
14g.94619449A>CCA487625303SERPINA3c.898A>C (p.Arg300=)
c.244A>C (p.Arg82=)
c.1861A>C
n.58-2892A>C
c.644-2892A>C (n.644-2892A>C)
c.117A>C
14g.94619449A>GCA390856349SERPINA3c.898A>G (p.Arg300Gly)
c.244A>G (p.Arg82Gly)
c.1861A>G
n.58-2892A>G
c.644-2892A>G (n.644-2892A>G)
c.117A>G
14g.94619449A>TCA390856350SERPINA3c.898A>T (p.Arg300Ter)
c.244A>T (p.Arg82Ter)
c.1861A>T
n.58-2892A>T
c.644-2892A>T (n.644-2892A>T)
c.117A>T
14g.94619450G>ACA390856355SERPINA3c.899G>A (p.Arg300Lys)
c.245G>A (p.Arg82Lys)
c.1862G>A
n.58-2891G>A
c.644-2891G>A (n.644-2891G>A)
c.118G>A
 COSMIC COSMIC
14g.94619450G>CCA390856352SERPINA3c.899G>C (p.Arg300Thr)
c.245G>C (p.Arg82Thr)
c.1862G>C
n.58-2891G>C
c.644-2891G>C (n.644-2891G>C)
c.118G>C
14g.94619450G>TCA390856354SERPINA3c.899G>T (p.Arg300Ile)
c.245G>T (p.Arg82Ile)
c.1862G>T
n.58-2891G>T
c.644-2891G>T (n.644-2891G>T)
c.118G>T
 dbSNP gnomAD v4
14g.94619451A>CCA390856356SERPINA3c.900A>C (p.Arg300Ser)
c.246A>C (p.Arg82Ser)
c.1863A>C
n.58-2890A>C
c.644-2890A>C (n.644-2890A>C)
c.119A>C
14g.94619451A>GCA487625304SERPINA3c.900A>G (p.Arg300=)
c.246A>G (p.Arg82=)
c.1863A>G
n.58-2890A>G
c.644-2890A>G (n.644-2890A>G)
c.119A>G
14g.94619451A>TCA390856358SERPINA3c.900A>T (p.Arg300Ser)
c.246A>T (p.Arg82Ser)
c.1863A>T
n.58-2890A>T
c.644-2890A>T (n.644-2890A>T)
c.119A>T
14g.94619452G>ACA390856360SERPINA3c.901G>A (p.Asp301Asn)
c.247G>A (p.Asp83Asn)
c.1864G>A
n.58-2889G>A
c.644-2889G>A (n.644-2889G>A)
c.120G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619452G>CCA390856361SERPINA3c.901G>C (p.Asp301His)
c.247G>C (p.Asp83His)
c.1864G>C
n.58-2889G>C
c.644-2889G>C (n.644-2889G>C)
c.120G>C
 gnomAD v4
14g.94619452G=CA2156074158SERPINA3c.901G= (p.Asp301=)
c.247G= (p.Asp83=)
c.1864G=
n.58-2889G=
c.644-2889G= (n.644-2889G=)
c.120G=
14g.94619452G>TCA390856363SERPINA3c.901G>T (p.Asp301Tyr)
c.247G>T (p.Asp83Tyr)
c.1864G>T
n.58-2889G>T
c.644-2889G>T (n.644-2889G>T)
c.120G>T
14g.94619453A=CA2156074159SERPINA3c.902A= (p.Asp301=)
c.248A= (p.Asp83=)
c.1865A=
n.58-2888A=
c.644-2888A= (n.644-2888A=)
c.121A=
14g.94619453A>CCA390856365SERPINA3c.902A>C (p.Asp301Ala)
c.248A>C (p.Asp83Ala)
c.1865A>C
n.58-2888A>C
c.644-2888A>C (n.644-2888A>C)
c.121A>C
14g.94619453A>GCA390856367SERPINA3c.902A>G (p.Asp301Gly)
c.248A>G (p.Asp83Gly)
c.1865A>G
n.58-2888A>G
c.644-2888A>G (n.644-2888A>G)
c.121A>G
14g.94619453A>TCA7329917SERPINA3c.902A>T (p.Asp301Val)
c.248A>T (p.Asp83Val)
c.1865A>T
n.58-2888A>T
c.644-2888A>T (n.644-2888A>T)
c.121A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619454C>ACA390856371SERPINA3c.903C>A (p.Asp301Glu)
c.249C>A (p.Asp83Glu)
c.1866C>A
n.58-2887C>A
c.644-2887C>A (n.644-2887C>A)
c.122C>A
14g.94619454C>GCA390856372SERPINA3c.903C>G (p.Asp301Glu)
c.249C>G (p.Asp83Glu)
c.1866C>G
n.58-2887C>G
c.644-2887C>G (n.644-2887C>G)
c.122C>G
14g.94619454C>TCA487625305SERPINA3c.903C>T (p.Asp301=)
c.249C>T (p.Asp83=)
c.1866C>T
n.58-2887C>T
c.644-2887C>T (n.644-2887C>T)
c.122C>T
 gnomAD v4
14g.94619455T>ACA390856378SERPINA3c.904T>A (p.Ser302Thr)
c.250T>A (p.Ser84Thr)
c.1867T>A
n.58-2886T>A
c.644-2886T>A (n.644-2886T>A)
c.123T>A
14g.94619455T>CCA390856376SERPINA3c.904T>C (p.Ser302Pro)
c.250T>C (p.Ser84Pro)
c.1867T>C
n.58-2886T>C
c.644-2886T>C (n.644-2886T>C)
c.123T>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.94619455T>GCA390856375SERPINA3c.904T>G (p.Ser302Ala)
c.250T>G (p.Ser84Ala)
c.1867T>G
n.58-2886T>G
c.644-2886T>G (n.644-2886T>G)
c.123T>G
14g.94619455T=CA2156074160SERPINA3c.904T= (p.Ser302=)
c.250T= (p.Ser84=)
c.1867T=
n.58-2886T=
c.644-2886T= (n.644-2886T=)
c.123T=
14g.94619456C>ACA390856380SERPINA3c.905C>A (p.Ser302Tyr)
c.251C>A (p.Ser84Tyr)
c.1868C>A
n.58-2885C>A
c.644-2885C>A (n.644-2885C>A)
c.124C>A
14g.94619456C>GCA390856382SERPINA3c.905C>G (p.Ser302Cys)
c.251C>G (p.Ser84Cys)
c.1868C>G
n.58-2885C>G
c.644-2885C>G (n.644-2885C>G)
c.124C>G
14g.94619456C>TCA390856384SERPINA3c.905C>T (p.Ser302Phe)
c.251C>T (p.Ser84Phe)
c.1868C>T
n.58-2885C>T
c.644-2885C>T (n.644-2885C>T)
c.124C>T
 gnomAD v4
14g.94619457T>ACA487625308SERPINA3c.906T>A (p.Ser302=)
c.252T>A (p.Ser84=)
c.1869T>A
n.58-2884T>A
c.644-2884T>A (n.644-2884T>A)
c.125T>A
 dbSNP gnomAD v4
14g.94619457T>CCA487625307SERPINA3c.906T>C (p.Ser302=)
c.252T>C (p.Ser84=)
c.1869T>C
n.58-2884T>C
c.644-2884T>C (n.644-2884T>C)
c.125T>C
14g.94619457T>GCA487625306SERPINA3c.906T>G (p.Ser302=)
c.252T>G (p.Ser84=)
c.1869T>G
n.58-2884T>G
c.644-2884T>G (n.644-2884T>G)
c.125T>G
14g.94619458C>ACA390856385SERPINA3c.907C>A (p.Leu303Met)
c.253C>A (p.Leu85Met)
c.1870C>A
n.58-2883C>A
c.644-2883C>A (n.644-2883C>A)
c.126C>A
14g.94619458C=CA2156074161SERPINA3c.907C= (p.Leu303=)
c.253C= (p.Leu85=)
c.1870C=
n.58-2883C=
c.644-2883C= (n.644-2883C=)
c.126C=
14g.94619458C>GCA390856387SERPINA3c.907C>G (p.Leu303Val)
c.253C>G (p.Leu85Val)
c.1870C>G
n.58-2883C>G
c.644-2883C>G (n.644-2883C>G)
c.126C>G
 dbSNP gnomAD v4
14g.94619458C>TCA487625309SERPINA3c.907C>T (p.Leu303=)
c.253C>T (p.Leu85=)
c.1870C>T
n.58-2883C>T
c.644-2883C>T (n.644-2883C>T)
c.126C>T
14g.94619459T>ACA390856389SERPINA3c.908T>A (p.Leu303Gln)
c.254T>A (p.Leu85Gln)
c.1871T>A
n.58-2882T>A
c.644-2882T>A (n.644-2882T>A)
c.127T>A
14g.94619459T>CCA390856391SERPINA3c.908T>C (p.Leu303Pro)
c.254T>C (p.Leu85Pro)
c.1871T>C
n.58-2882T>C
c.644-2882T>C (n.644-2882T>C)
c.127T>C
14g.94619459T>GCA390856393SERPINA3c.908T>G (p.Leu303Arg)
c.254T>G (p.Leu85Arg)
c.1871T>G
n.58-2882T>G
c.644-2882T>G (n.644-2882T>G)
c.127T>G
14g.94619460G>ACA265885283SERPINA3c.909G>A (p.Leu303=)
c.255G>A (p.Leu85=)
c.1872G>A
n.58-2881G>A
c.644-2881G>A (n.644-2881G>A)
c.128G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619460G>CCA487625311SERPINA3c.909G>C (p.Leu303=)
c.255G>C (p.Leu85=)
c.1872G>C
n.58-2881G>C
c.644-2881G>C (n.644-2881G>C)
c.128G>C
14g.94619460G=CA2156074162SERPINA3c.909G= (p.Leu303=)
c.255G= (p.Leu85=)
c.1872G=
n.58-2881G=
c.644-2881G= (n.644-2881G=)
c.128G=
14g.94619460G>TCA487625310SERPINA3c.909G>T (p.Leu303=)
c.255G>T (p.Leu85=)
c.1872G>T
n.58-2881G>T
c.644-2881G>T (n.644-2881G>T)
c.128G>T
14g.94619461G>ACA390856395SERPINA3c.910G>A (p.Glu304Lys)
c.256G>A (p.Glu86Lys)
c.1873G>A
n.58-2880G>A
c.644-2880G>A (n.644-2880G>A)
c.129G>A
 COSMIC COSMIC
14g.94619461G>CCA390856396SERPINA3c.910G>C (p.Glu304Gln)
c.256G>C (p.Glu86Gln)
c.1873G>C
n.58-2880G>C
c.644-2880G>C (n.644-2880G>C)
c.129G>C
14g.94619461G=CA2156074163SERPINA3c.910G= (p.Glu304=)
c.256G= (p.Glu86=)
c.1873G=
n.58-2880G=
c.644-2880G= (n.644-2880G=)
c.129G=
14g.94619461G>TCA390856398SERPINA3c.910G>T (p.Glu304Ter)
c.256G>T (p.Glu86Ter)
c.1873G>T
n.58-2880G>T
c.644-2880G>T (n.644-2880G>T)
c.129G>T
 dbSNP gnomAD v2
14g.94619462A>CCA390856404SERPINA3c.911A>C (p.Glu304Ala)
c.257A>C (p.Glu86Ala)
c.1874A>C
n.58-2879A>C
c.644-2879A>C (n.644-2879A>C)
c.130A>C
 gnomAD v4
14g.94619462A>GCA390856402SERPINA3c.911A>G (p.Glu304Gly)
c.257A>G (p.Glu86Gly)
c.1874A>G
n.58-2879A>G
c.644-2879A>G (n.644-2879A>G)
c.130A>G
14g.94619462A>TCA390856400SERPINA3c.911A>T (p.Glu304Val)
c.257A>T (p.Glu86Val)
c.1874A>T
n.58-2879A>T
c.644-2879A>T (n.644-2879A>T)
c.130A>T
14g.94619463G>ACA487625314SERPINA3c.912G>A (p.Glu304=)
c.258G>A (p.Glu86=)
c.1875G>A
n.58-2878G>A
c.644-2878G>A (n.644-2878G>A)
c.131G>A
14g.94619463G>CCA390856405SERPINA3c.912G>C (p.Glu304Asp)
c.258G>C (p.Glu86Asp)
c.1875G>C
n.58-2878G>C
c.644-2878G>C (n.644-2878G>C)
c.131G>C
14g.94619463G>TCA390856407SERPINA3c.912G>T (p.Glu304Asp)
c.258G>T (p.Glu86Asp)
c.1875G>T
n.58-2878G>T
c.644-2878G>T (n.644-2878G>T)
c.131G>T
14g.94619464T>ACA390856410SERPINA3c.913T>A (p.Phe305Ile)
c.259T>A (p.Phe87Ile)
c.1876T>A
n.58-2877T>A
c.644-2877T>A (n.644-2877T>A)
c.132T>A
14g.94619464T>CCA390856413SERPINA3c.913T>C (p.Phe305Leu)
c.259T>C (p.Phe87Leu)
c.1876T>C
n.58-2877T>C
c.644-2877T>C (n.644-2877T>C)
c.132T>C
14g.94619464T>GCA390856424SERPINA3c.913T>G (p.Phe305Val)
c.259T>G (p.Phe87Val)
c.1876T>G
n.58-2877T>G
c.644-2877T>G (n.644-2877T>G)
c.132T>G
14g.94619465T>ACA390856429SERPINA3c.914T>A (p.Phe305Tyr)
c.260T>A (p.Phe87Tyr)
c.1877T>A
n.58-2876T>A
c.644-2876T>A (n.644-2876T>A)
c.133T>A
14g.94619465T>CCA390856432SERPINA3c.914T>C (p.Phe305Ser)
c.260T>C (p.Phe87Ser)
c.1877T>C
n.58-2876T>C
c.644-2876T>C (n.644-2876T>C)
c.133T>C
14g.94619465T>GCA390856434SERPINA3c.914T>G (p.Phe305Cys)
c.260T>G (p.Phe87Cys)
c.1877T>G
n.58-2876T>G
c.644-2876T>G (n.644-2876T>G)
c.133T>G
14g.94619466C>ACA390856437SERPINA3c.915C>A (p.Phe305Leu)
c.261C>A (p.Phe87Leu)
c.1878C>A
n.58-2875C>A
c.644-2875C>A (n.644-2875C>A)
c.134C>A
14g.94619466C>GCA390856440SERPINA3c.915C>G (p.Phe305Leu)
c.261C>G (p.Phe87Leu)
c.1878C>G
n.58-2875C>G
c.644-2875C>G (n.644-2875C>G)
c.134C>G
14g.94619466C>TCA487625315SERPINA3c.915C>T (p.Phe305=)
c.261C>T (p.Phe87=)
c.1878C>T
n.58-2875C>T
c.644-2875C>T (n.644-2875C>T)
c.134C>T
14g.94619467A>CCA487625316SERPINA3c.916A>C (p.Arg306=)
c.262A>C (p.Arg88=)
c.1879A>C
c.916A>C
n.58-2874A>C
c.644-2874A>C (n.644-2874A>C)
c.135A>C
14g.94619467A>GCA390856444SERPINA3c.916A>G (p.Arg306Gly)
c.262A>G (p.Arg88Gly)
c.1879A>G
c.916A>G
n.58-2874A>G
c.644-2874A>G (n.644-2874A>G)
c.135A>G
14g.94619467A>TCA390856446SERPINA3c.916A>T (p.Arg306Ter)
c.262A>T (p.Arg88Ter)
c.1879A>T
c.916A>T
n.58-2874A>T
c.644-2874A>T (n.644-2874A>T)
c.135A>T
14g.94619468G>ACA390856453SERPINA3c.917G>A (p.Arg306Lys)
c.263G>A (p.Arg88Lys)
c.1880G>A
c.917G>A
n.58-2873G>A
c.644-2873G>A (n.644-2873G>A)
c.136G>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619468G>CCA7329918SERPINA3c.917G>C (p.Arg306Thr)
c.263G>C (p.Arg88Thr)
c.1880G>C
c.917G>C
n.58-2873G>C
c.644-2873G>C (n.644-2873G>C)
c.136G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619468G=CA2156074164SERPINA3c.917G= (p.Arg306=)
c.263G= (p.Arg88=)
c.1880G=
c.917G=
n.58-2873G=
c.644-2873G= (n.644-2873G=)
c.136G=
14g.94619468G>TCA390856451SERPINA3c.917G>T (p.Arg306Ile)
c.263G>T (p.Arg88Ile)
c.1880G>T
c.917G>T
n.58-2873G>T
c.644-2873G>T (n.644-2873G>T)
c.136G>T
14g.94619469G>ACA7329920SERPINA3c.917+1G>A (n.917+1G>A)
c.263+1G>A (n.263+1G>A)
c.1880+1G>A
n.58-2872G>A
c.644-2872G>A (n.644-2872G>A)
c.137G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.94619469G>CCA265885306SERPINA3c.917+1G>C (n.917+1G>C)
c.263+1G>C (n.263+1G>C)
c.1880+1G>C
n.58-2872G>C
c.644-2872G>C (n.644-2872G>C)
c.137G>C
 dbSNP
14g.94619469G=CA2156074165SERPINA3c.917+1G= (n.917+1G=)
c.263+1G= (n.263+1G=)
c.1880+1G=
n.58-2872G=
c.644-2872G= (n.644-2872G=)
c.137G=
14g.94619469G>TCA7329919SERPINA3c.917+1G>T (n.917+1G>T)
c.263+1G>T (n.263+1G>T)
c.1880+1G>T
n.58-2872G>T
c.644-2872G>T (n.644-2872G>T)
c.137G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619470T>ACA265885308SERPINA3c.917+2T>A (n.917+2T>A)
c.263+2T>A (n.263+2T>A)
c.1880+2T>A
n.58-2871T>A
c.644-2871T>A (n.644-2871T>A)
c.138T>A
 dbSNP
14g.94619470T>CCA390856468SERPINA3c.917+2T>C (n.917+2T>C)
c.263+2T>C (n.263+2T>C)
c.1880+2T>C
n.58-2871T>C
c.644-2871T>C (n.644-2871T>C)
c.138T>C
14g.94619470T>GCA265885310SERPINA3c.917+2T>G (n.917+2T>G)
c.263+2T>G (n.263+2T>G)
c.1880+2T>G
n.58-2871T>G
c.644-2871T>G (n.644-2871T>G)
c.138T>G
 dbSNP
14g.94619470T=CA2156074166SERPINA3c.917+2T= (n.917+2T=)
c.263+2T= (n.263+2T=)
c.1880+2T=
n.58-2871T=
c.644-2871T= (n.644-2871T=)
c.138T=
14g.94619471G>ACA645581953SERPINA3c.917+3G>A (n.917+3G>A)
c.263+3G>A (n.263+3G>A)
c.1880+3G>A
n.58-2870G>A
c.644-2870G>A (n.644-2870G>A)
c.139G>A
 COSMIC COSMIC
14g.94619476T>CCA2626330359SERPINA3c.917+8T>C (n.917+8T>C)
c.263+8T>C (n.263+8T>C)
c.1880+8T>C
n.58-2865T>C
c.644-2865T>C (n.644-2865T>C)
c.144T>C
 gnomAD v4
14g.94619478C=CA2156074167SERPINA3c.917+10C= (n.917+10C=)
c.263+10C= (n.263+10C=)
c.1880+10C=
n.58-2863C=
c.644-2863C= (n.644-2863C=)
c.146C=
14g.94619478C>TCA616115366SERPINA3c.917+10C>T (n.917+10C>T)
c.263+10C>T (n.263+10C>T)
c.1880+10C>T
n.58-2863C>T
c.644-2863C>T (n.644-2863C>T)
c.146C>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619480T>CCA616115367SERPINA3c.917+12T>C (n.917+12T>C)
c.263+12T>C (n.263+12T>C)
c.1880+12T>C
n.58-2861T>C
c.644-2861T>C (n.644-2861T>C)
c.148T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619480T>GCA7329921SERPINA3c.917+12T>G (n.917+12T>G)
c.263+12T>G (n.263+12T>G)
c.1880+12T>G
n.58-2861T>G
c.644-2861T>G (n.644-2861T>G)
c.148T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619480T=CA2156074168SERPINA3c.917+12T= (n.917+12T=)
c.263+12T= (n.263+12T=)
c.1880+12T=
n.58-2861T=
c.644-2861T= (n.644-2861T=)
c.148T=
14g.94619481G=CA2156074169SERPINA3c.917+13G= (n.917+13G=)
c.263+13G= (n.263+13G=)
c.1880+13G=
n.58-2860G=
c.644-2860G= (n.644-2860G=)
c.149G=
14g.94619481G>TCA616115368SERPINA3c.917+13G>T (n.917+13G>T)
c.263+13G>T (n.263+13G>T)
c.1880+13G>T
n.58-2860G>T
c.644-2860G>T (n.644-2860G>T)
c.149G>T
 dbSNP gnomAD v2 gnomAD v4
14g.94619482G=CA2156074170SERPINA3c.917+14G= (n.917+14G=)
c.263+14G= (n.263+14G=)
c.1880+14G=
n.58-2859G=
c.644-2859G= (n.644-2859G=)
c.150G=
14g.94619482G>TCA616115369SERPINA3c.917+14G>T (n.917+14G>T)
c.263+14G>T (n.263+14G>T)
c.1880+14G>T
n.58-2859G>T
c.644-2859G>T (n.644-2859G>T)
c.150G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619483C=CA2156074171SERPINA3c.917+15C= (n.917+15C=)
c.263+15C= (n.263+15C=)
c.1880+15C=
n.58-2858C=
c.644-2858C= (n.644-2858C=)
c.151C=
14g.94619483C>TCA616115370SERPINA3c.917+15C>T (n.917+15C>T)
c.263+15C>T (n.263+15C>T)
c.1880+15C>T
n.58-2858C>T
c.644-2858C>T (n.644-2858C>T)
c.151C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619487delCA2626330361SERPINA3c.917+19del (n.917+19del)
c.263+19del (n.263+19del)
c.1880+19del
n.58-2854del
c.644-2854del (n.644-2854del)
c.155del
 dbSNP gnomAD v4
14g.94619484C>TCA2626330362SERPINA3c.917+16C>T (n.917+16C>T)
c.263+16C>T (n.263+16C>T)
c.1880+16C>T
n.58-2857C>T
c.644-2857C>T (n.644-2857C>T)
c.152C>T
 gnomAD v4
14g.94619485C>TCA2626330363SERPINA3c.917+17C>T (n.917+17C>T)
c.263+17C>T (n.263+17C>T)
c.1880+17C>T
n.58-2856C>T
c.644-2856C>T (n.644-2856C>T)
c.153C>T
 gnomAD v4
14g.94619486C>ACA2626330364SERPINA3c.917+18C>A (n.917+18C>A)
c.263+18C>A (n.263+18C>A)
c.1880+18C>A
n.58-2855C>A
c.644-2855C>A (n.644-2855C>A)
c.154C>A
 gnomAD v4
14g.94619486C>GCA2626330365SERPINA3c.917+18C>G (n.917+18C>G)
c.263+18C>G (n.263+18C>G)
c.1880+18C>G
n.58-2855C>G
c.644-2855C>G (n.644-2855C>G)
c.154C>G
 gnomAD v4
14g.94619487C>ACA7329922SERPINA3c.917+19C>A (n.917+19C>A)
c.263+19C>A (n.263+19C>A)
c.1880+19C>A
n.58-2854C>A
c.644-2854C>A (n.644-2854C>A)
c.155C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619487C=CA2156074172SERPINA3c.917+19C= (n.917+19C=)
c.263+19C= (n.263+19C=)
c.1880+19C=
n.58-2854C=
c.644-2854C= (n.644-2854C=)
c.155C=
14g.94619488A=CA2156074173SERPINA3c.917+20A= (n.917+20A=)
c.263+20A= (n.263+20A=)
c.1880+20A=
n.58-2853A=
c.644-2853A= (n.644-2853A=)
c.156A=
14g.94619488A>GCA265885327SERPINA3c.917+20A>G (n.917+20A>G)
c.263+20A>G (n.263+20A>G)
c.1880+20A>G
n.58-2853A>G
c.644-2853A>G (n.644-2853A>G)
c.156A>G
 dbSNP
14g.94619489A=CA2156074174SERPINA3c.917+21A= (n.917+21A=)
c.263+21A= (n.263+21A=)
c.1880+21A=
n.58-2852A=
c.644-2852A= (n.644-2852A=)
c.157A=
14g.94619489A>GCA265885331SERPINA3c.917+21A>G (n.917+21A>G)
c.263+21A>G (n.263+21A>G)
c.1880+21A>G
n.58-2852A>G
c.644-2852A>G (n.644-2852A>G)
c.157A>G
 dbSNP gnomAD v4
14g.94619491_94619499delCA2626330366SERPINA3c.917+23_917+31del (n.917+23_917+31del)
c.263+23_263+31del (n.263+23_263+31del)
c.1880+23_1880+31del
n.58-2850_58-2842del
c.644-2850_644-2842del (n.644-2850_644-2842del)
c.159_167del
 gnomAD v4
14g.94619491G>CCA7329923SERPINA3c.917+23G>C (n.917+23G>C)
c.263+23G>C (n.263+23G>C)
c.1880+23G>C
n.58-2850G>C
c.644-2850G>C (n.644-2850G>C)
c.159G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619491G=CA2156074175SERPINA3c.917+23G= (n.917+23G=)
c.263+23G= (n.263+23G=)
c.1880+23G=
n.58-2850G=
c.644-2850G= (n.644-2850G=)
c.159G=
14g.94619491G>TCA2156074176SERPINA3c.917+23G>T (n.917+23G>T)
c.263+23G>T (n.263+23G>T)
c.1880+23G>T
n.58-2850G>T
c.644-2850G>T (n.644-2850G>T)
c.159G>T
 dbSNP gnomAD v4
14g.94619492A=CA2156074178SERPINA3c.917+24A= (n.917+24A=)
c.263+24A= (n.263+24A=)
c.1880+24A=
n.58-2849A=
c.644-2849A= (n.644-2849A=)
c.160A=
14g.94619492A>GCA2626330367SERPINA3c.917+24A>G (n.917+24A>G)
c.263+24A>G (n.263+24A>G)
c.1880+24A>G
n.58-2849A>G
c.644-2849A>G (n.644-2849A>G)
c.160A>G
 gnomAD v4
14g.94619492A>TCA2626330368SERPINA3c.917+24A>T (n.917+24A>T)
c.263+24A>T (n.263+24A>T)
c.1880+24A>T
n.58-2849A>T
c.644-2849A>T (n.644-2849A>T)
c.160A>T
 gnomAD v4
14g.94619492_94619493delinsACCA2156074177SERPINA3c.917+24_917+25delinsAC (n.917+24_917+25delinsAC)
c.263+24_263+25delinsAC (n.263+24_263+25delinsAC)
c.1880+24_1880+25delinsAC
n.58-2849_58-2848delinsAC
c.644-2849_644-2848delinsAC (n.644-2849_644-2848delinsAC)
c.160_161delinsAC
14g.94619493C=CA2156074179SERPINA3c.917+25C= (n.917+25C=)
c.263+25C= (n.263+25C=)
c.1880+25C=
n.58-2848C=
c.644-2848C= (n.644-2848C=)
c.161C=
14g.94619493C>TCA7329926SERPINA3c.917+25C>T (n.917+25C>T)
c.263+25C>T (n.263+25C>T)
c.1880+25C>T
n.58-2848C>T
c.644-2848C>T (n.644-2848C>T)
c.161C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619496dupCA265885365SERPINA3c.917+28dup (n.917+28dup)
c.263+28dup (n.263+28dup)
c.1880+28dup
n.58-2845dup
c.644-2845dup (n.644-2845dup)
c.164dup
 dbSNP
14g.94619496delCA7329924SERPINA3c.917+28del (n.917+28del)
c.263+28del (n.263+28del)
c.1880+28del
n.58-2845del
c.644-2845del (n.644-2845del)
c.164del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619494_94619501dupCA7329925SERPINA3c.917+26_917+33dup (n.917+26_917+33dup)
c.263+26_263+33dup (n.263+26_263+33dup)
c.1880+26_1880+33dup
n.58-2847_58-2840dup
c.644-2847_644-2840dup (n.644-2847_644-2840dup)
c.162_169dup
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619493_94619494insACA2802669932SERPINA3c.917+25_917+26insA (n.917+25_917+26insA)
c.263+25_263+26insA (n.263+25_263+26insA)
c.1880+25_1880+26insA
n.58-2848_58-2847insA
c.644-2848_644-2847insA (n.644-2848_644-2847insA)
c.161_162insA
14g.94619494C>ACA2626330370SERPINA3c.917+26C>A (n.917+26C>A)
c.263+26C>A (n.263+26C>A)
c.1880+26C>A
n.58-2847C>A
c.644-2847C>A (n.644-2847C>A)
c.162C>A
 gnomAD v4
14g.94619494C=CA2156074180SERPINA3c.917+26C= (n.917+26C=)
c.263+26C= (n.263+26C=)
c.1880+26C=
n.58-2847C=
c.644-2847C= (n.644-2847C=)
c.162C=
14g.94619494C>GCA7329927SERPINA3c.917+26C>G (n.917+26C>G)
c.263+26C>G (n.263+26C>G)
c.1880+26C>G
n.58-2847C>G
c.644-2847C>G (n.644-2847C>G)
c.162C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619494C>TCA2626330369SERPINA3c.917+26C>T (n.917+26C>T)
c.263+26C>T (n.263+26C>T)
c.1880+26C>T
n.58-2847C>T
c.644-2847C>T (n.644-2847C>T)
c.162C>T
 gnomAD v4
14g.94619495C>GCA2730159369SERPINA3c.917+27C>G (n.917+27C>G)
c.263+27C>G (n.263+27C>G)
c.1880+27C>G
n.58-2846C>G
c.644-2846C>G (n.644-2846C>G)
c.163C>G
 dbSNP
14g.94619496C>TCA2626330371SERPINA3c.917+28C>T (n.917+28C>T)
c.263+28C>T (n.263+28C>T)
c.1880+28C>T
n.58-2845C>T
c.644-2845C>T (n.644-2845C>T)
c.164C>T
 gnomAD v4
14g.94619497_94619498insACACA2802669933SERPINA3c.917+29_917+30insACA (n.917+29_917+30insACA)
c.263+29_263+30insACA (n.263+29_263+30insACA)
c.1880+29_1880+30insACA
n.58-2844_58-2843insACA
c.644-2844_644-2843insACA (n.644-2844_644-2843insACA)
c.165_166insACA
14g.94619497_94619498insAACACACCCAACACA2802669934SERPINA3c.917+29_917+30insAACACACCCAACA (n.917+29_917+30insAACACACCCAACA)
c.263+29_263+30insAACACACCCAACA (n.263+29_263+30insAACACACCCAACA)
c.1880+29_1880+30insAACACACCCAACA
n.58-2844_58-2843insAACACACCCAACA
c.644-2844_644-2843insAACACACCCAACA (n.644-2844_644-2843insAACACACCCAACA)
c.165_166insAACACACCCAACA
14g.94619497A=CA2156074181SERPINA3c.917+29A= (n.917+29A=)
c.263+29A= (n.263+29A=)
c.1880+29A=
n.58-2844A=
c.644-2844A= (n.644-2844A=)
c.165A=
14g.94619497A>GCA7329928SERPINA3c.917+29A>G (n.917+29A>G)
c.263+29A>G (n.263+29A>G)
c.1880+29A>G
n.58-2844A>G
c.644-2844A>G (n.644-2844A>G)
c.165A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619497A>TCA7329929SERPINA3c.917+29A>T (n.917+29A>T)
c.263+29A>T (n.263+29A>T)
c.1880+29A>T
n.58-2844A>T
c.644-2844A>T (n.644-2844A>T)
c.165A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619498C>ACA265885384SERPINA3c.917+30C>A (n.917+30C>A)
c.263+30C>A (n.263+30C>A)
c.1880+30C>A
n.58-2843C>A
c.644-2843C>A (n.644-2843C>A)
c.166C>A
 dbSNP gnomAD v3 gnomAD v4
14g.94619498C=CA2156074182SERPINA3c.917+30C= (n.917+30C=)
c.263+30C= (n.263+30C=)
c.1880+30C=
n.58-2843C=
c.644-2843C= (n.644-2843C=)
c.166C=
14g.94619498C>TCA7329930SERPINA3c.917+30C>T (n.917+30C>T)
c.263+30C>T (n.263+30C>T)
c.1880+30C>T
n.58-2843C>T
c.644-2843C>T (n.644-2843C>T)
c.166C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619499A>CCA2557213340SERPINA3c.917+31A>C (n.917+31A>C)
c.263+31A>C (n.263+31A>C)
c.1880+31A>C
n.58-2842A>C
c.644-2842A>C (n.644-2842A>C)
c.167A>C
 gnomAD v4
14g.94619500T>CCA616115371SERPINA3c.917+32T>C (n.917+32T>C)
c.263+32T>C (n.263+32T>C)
c.1880+32T>C
n.58-2841T>C
c.644-2841T>C (n.644-2841T>C)
c.168T>C
 dbSNP gnomAD v2 gnomAD v4
14g.94619500T=CA2156074183SERPINA3c.917+32T= (n.917+32T=)
c.263+32T= (n.263+32T=)
c.1880+32T=
n.58-2841T=
c.644-2841T= (n.644-2841T=)
c.168T=
14g.94619501C>ACA2626330372SERPINA3c.917+33C>A (n.917+33C>A)
c.263+33C>A (n.263+33C>A)
c.1880+33C>A
n.58-2840C>A
c.644-2840C>A (n.644-2840C>A)
c.169C>A
 gnomAD v4
14g.94619501C=CA2156074184SERPINA3c.917+33C= (n.917+33C=)
c.263+33C= (n.263+33C=)
c.1880+33C=
n.58-2840C=
c.644-2840C= (n.644-2840C=)
c.169C=
14g.94619501C>TCA7329931SERPINA3c.917+33C>T (n.917+33C>T)
c.263+33C>T (n.263+33C>T)
c.1880+33C>T
n.58-2840C>T
c.644-2840C>T (n.644-2840C>T)
c.169C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619502T>CCA966148044SERPINA3c.917+34T>C (n.917+34T>C)
c.263+34T>C (n.263+34T>C)
c.1880+34T>C
n.58-2839T>C
c.644-2839T>C (n.644-2839T>C)
c.170T>C
 dbSNP gnomAD v3 gnomAD v4
14g.94619502T=CA2156074185SERPINA3c.917+34T= (n.917+34T=)
c.263+34T= (n.263+34T=)
c.1880+34T=
n.58-2839T=
c.644-2839T= (n.644-2839T=)
c.170T=
14g.94619503C=CA2156074186SERPINA3c.917+35C= (n.917+35C=)
c.263+35C= (n.263+35C=)
c.1880+35C=
n.58-2838C=
c.644-2838C= (n.644-2838C=)
c.171C=
14g.94619503C>GCA265885389SERPINA3c.917+35C>G (n.917+35C>G)
c.263+35C>G (n.263+35C>G)
c.1880+35C>G
n.58-2838C>G
c.644-2838C>G (n.644-2838C>G)
c.171C>G
 dbSNP gnomAD v3 gnomAD v4
14g.94619504T>GCA2626330373SERPINA3c.917+36T>G (n.917+36T>G)
c.263+36T>G (n.263+36T>G)
c.1880+36T>G
n.58-2837T>G
c.644-2837T>G (n.644-2837T>G)
c.172T>G
 gnomAD v4

Number of alleles fetched