Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619312T>A | CA390855858 | SERPINA3 | c.761T>A (p.Phe254Tyr) c.107T>A (p.Phe36Tyr) c.1724T>A n.58-3029T>A c.644-3029T>A (n.644-3029T>A) | |
14 | g.94619312T>C | CA390855859 | SERPINA3 | c.761T>C (p.Phe254Ser) c.107T>C (p.Phe36Ser) c.1724T>C n.58-3029T>C c.644-3029T>C (n.644-3029T>C) | |
14 | g.94619312T>G | CA390855860 | SERPINA3 | c.761T>G (p.Phe254Cys) c.107T>G (p.Phe36Cys) c.1724T>G n.58-3029T>G c.644-3029T>G (n.644-3029T>G) | |
14 | g.94619313C>A | CA390855861 | SERPINA3 | c.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 |
14 | g.94619313C= | CA2156074088 | SERPINA3 | c.762C= (p.Phe254=) c.108C= (p.Phe36=) c.1725C= n.58-3028C= c.644-3028C= (n.644-3028C=) | |
14 | g.94619313C>G | CA390855862 | SERPINA3 | c.762C>G (p.Phe254Leu) c.108C>G (p.Phe36Leu) c.1725C>G n.58-3028C>G c.644-3028C>G (n.644-3028C>G) | |
14 | g.94619313C>T | CA487625226 | SERPINA3 | c.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 |
14 | g.94619314C>A | CA487625227 | SERPINA3 | c.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 |
14 | g.94619314C= | CA2156074089 | SERPINA3 | c.763C= (p.Arg255=) c.109C= (p.Arg37=) c.1726C= n.58-3027C= c.644-3027C= (n.644-3027C=) | |
14 | g.94619314C>G | CA390855863 | SERPINA3 | c.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 |
14 | g.94619314C>T | CA7329880 | SERPINA3 | c.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 |
14 | g.94619315G>A | CA7329881 | SERPINA3 | c.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 |
14 | g.94619315G>C | CA390855864 | SERPINA3 | c.764G>C (p.Arg255Pro) c.110G>C (p.Arg37Pro) c.1727G>C n.58-3026G>C c.644-3026G>C (n.644-3026G>C) | |
14 | g.94619315G= | CA2156074090 | SERPINA3 | c.764G= (p.Arg255=) c.110G= (p.Arg37=) c.1727G= n.58-3026G= c.644-3026G= (n.644-3026G=) | |
14 | g.94619315G>T | CA390855865 | SERPINA3 | c.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 |
14 | g.94619317del | CA2626330352 | SERPINA3 | c.766del (p.Asp256ThrfsTer11) c.112del (p.Asp38ThrfsTer11) c.1729del n.58-3024del c.644-3024del (n.644-3024del) | gnomAD v4 |
14 | g.94619316G>A | CA487625228 | SERPINA3 | c.765G>A (p.Arg255=) c.111G>A (p.Arg37=) c.1728G>A n.58-3025G>A c.644-3025G>A (n.644-3025G>A) | |
14 | g.94619316G>C | CA487625229 | SERPINA3 | c.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 |
14 | g.94619316G= | CA2156074091 | SERPINA3 | c.765G= (p.Arg255=) c.111G= (p.Arg37=) c.1728G= n.58-3025G= c.644-3025G= (n.644-3025G=) | |
14 | g.94619316G>T | CA487625230 | SERPINA3 | c.765G>T (p.Arg255=) c.111G>T (p.Arg37=) c.1728G>T n.58-3025G>T c.644-3025G>T (n.644-3025G>T) | |
14 | g.94619317G>A | CA390855868 | SERPINA3 | c.766G>A (p.Asp256Asn) c.112G>A (p.Asp38Asn) c.1729G>A n.58-3024G>A c.644-3024G>A (n.644-3024G>A) | |
14 | g.94619317G>C | CA390855867 | SERPINA3 | c.766G>C (p.Asp256His) c.112G>C (p.Asp38His) c.1729G>C n.58-3024G>C c.644-3024G>C (n.644-3024G>C) | |
14 | g.94619317G>T | CA390855866 | SERPINA3 | c.766G>T (p.Asp256Tyr) c.112G>T (p.Asp38Tyr) c.1729G>T n.58-3024G>T c.644-3024G>T (n.644-3024G>T) | |
14 | g.94619318A>C | CA390855869 | SERPINA3 | c.767A>C (p.Asp256Ala) c.113A>C (p.Asp38Ala) c.1730A>C n.58-3023A>C c.644-3023A>C (n.644-3023A>C) | |
14 | g.94619318A>G | CA390855870 | SERPINA3 | c.767A>G (p.Asp256Gly) c.113A>G (p.Asp38Gly) c.1730A>G n.58-3023A>G c.644-3023A>G (n.644-3023A>G) | |
14 | g.94619318A>T | CA390855871 | SERPINA3 | c.767A>T (p.Asp256Val) c.113A>T (p.Asp38Val) c.1730A>T n.58-3023A>T c.644-3023A>T (n.644-3023A>T) | |
14 | g.94619319C>A | CA390855872 | SERPINA3 | c.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 |
14 | g.94619319C= | CA2156074092 | SERPINA3 | c.768C= (p.Asp256=) c.114C= (p.Asp38=) c.1731C= n.58-3022C= c.644-3022C= (n.644-3022C=) | |
14 | g.94619319C>G | CA390855873 | SERPINA3 | c.768C>G (p.Asp256Glu) c.114C>G (p.Asp38Glu) c.1731C>G n.58-3022C>G c.644-3022C>G (n.644-3022C>G) | |
14 | g.94619319C>T | CA7329882 | SERPINA3 | c.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 |
14 | g.94619320G>A | CA7329883 | SERPINA3 | c.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 |
14 | g.94619320G>C | CA390855874 | SERPINA3 | c.769G>C (p.Glu257Gln) c.115G>C (p.Glu39Gln) c.1732G>C n.58-3021G>C c.644-3021G>C (n.644-3021G>C) | |
14 | g.94619320G= | CA2156074093 | SERPINA3 | c.769G= (p.Glu257=) c.115G= (p.Glu39=) c.1732G= n.58-3021G= c.644-3021G= (n.644-3021G=) | |
14 | g.94619320G>T | CA390855875 | SERPINA3 | c.769G>T (p.Glu257Ter) c.115G>T (p.Glu39Ter) c.1732G>T n.58-3021G>T c.644-3021G>T (n.644-3021G>T) | |
14 | g.94619321A>C | CA390855876 | SERPINA3 | c.770A>C (p.Glu257Ala) c.116A>C (p.Glu39Ala) c.1733A>C n.58-3020A>C c.644-3020A>C (n.644-3020A>C) | |
14 | g.94619321A>G | CA390855877 | SERPINA3 | c.770A>G (p.Glu257Gly) c.116A>G (p.Glu39Gly) c.1733A>G n.58-3020A>G c.644-3020A>G (n.644-3020A>G) | |
14 | g.94619321A>T | CA390855878 | SERPINA3 | c.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 |
14 | g.94619322G>A | CA487625231 | SERPINA3 | c.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 |
14 | g.94619322G>C | CA390855879 | SERPINA3 | c.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 |
14 | g.94619322G>T | CA390855880 | SERPINA3 | c.771G>T (p.Glu257Asp) c.117G>T (p.Glu39Asp) c.1734G>T n.58-3019G>T c.644-3019G>T (n.644-3019G>T) | |
14 | g.94619322_94619325del | CA2802669930 | SERPINA3 | c.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) | |
14 | g.94619323G>A | CA390855882 | SERPINA3 | c.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 |
14 | g.94619323G>C | CA390855883 | SERPINA3 | c.772G>C (p.Glu258Gln) c.118G>C (p.Glu40Gln) c.1735G>C n.58-3018G>C c.644-3018G>C (n.644-3018G>C) | |
14 | g.94619323G= | CA2156074094 | SERPINA3 | c.772G= (p.Glu258=) c.118G= (p.Glu40=) c.1735G= n.58-3018G= c.644-3018G= (n.644-3018G=) | |
14 | g.94619323G>T | CA390855881 | SERPINA3 | c.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 |
14 | g.94619324A= | CA2156074095 | SERPINA3 | c.773A= (p.Glu258=) c.119A= (p.Glu40=) c.1736A= n.58-3017A= c.644-3017A= (n.644-3017A=) | |
14 | g.94619324A>C | CA390855884 | SERPINA3 | c.773A>C (p.Glu258Ala) c.119A>C (p.Glu40Ala) c.1736A>C n.58-3017A>C c.644-3017A>C (n.644-3017A>C) | |
14 | g.94619324A>G | CA390855885 | SERPINA3 | c.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 |
14 | g.94619324A>T | CA390855886 | SERPINA3 | c.773A>T (p.Glu258Val) c.119A>T (p.Glu40Val) c.1736A>T n.58-3017A>T c.644-3017A>T (n.644-3017A>T) | |
14 | g.94619325G>A | CA487625232 | SERPINA3 | c.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 |
14 | g.94619325G>C | CA390855887 | SERPINA3 | c.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 |
14 | g.94619325G= | CA2156074096 | SERPINA3 | c.774G= (p.Glu258=) c.120G= (p.Glu40=) c.1737G= n.58-3016G= c.644-3016G= (n.644-3016G=) | |
14 | g.94619325G>T | CA390855888 | SERPINA3 | c.774G>T (p.Glu258Asp) c.120G>T (p.Glu40Asp) c.1737G>T n.58-3016G>T c.644-3016G>T (n.644-3016G>T) | |
14 | g.94619325dup | CA2575615680 | SERPINA3 | c.774dup (p.Leu259AlafsTer22) c.120dup (p.Leu41AlafsTer22) c.1737dup n.58-3016dup c.644-3016dup (n.644-3016dup) | |
14 | g.94619326C>A | CA390855889 | SERPINA3 | c.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 |
14 | g.94619326C>G | CA390855890 | SERPINA3 | c.775C>G (p.Leu259Val) c.121C>G (p.Leu41Val) c.1738C>G n.58-3015C>G c.644-3015C>G (n.644-3015C>G) | |
14 | g.94619326C>T | CA487625233 | SERPINA3 | c.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 |
14 | g.94619326_94619327insCTCTCTCAACTCTCTCCTCACTCTCTC | CA2802669931 | SERPINA3 | c.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) | |
14 | g.94619327T>A | CA390855891 | SERPINA3 | c.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 |
14 | g.94619327T>C | CA390855892 | SERPINA3 | c.776T>C (p.Leu259Pro) c.122T>C (p.Leu41Pro) c.1739T>C n.58-3014T>C c.644-3014T>C (n.644-3014T>C) | |
14 | g.94619327T>G | CA390855893 | SERPINA3 | c.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 |
14 | g.94619328G>A | CA487625234 | SERPINA3 | c.777G>A (p.Leu259=) c.123G>A (p.Leu41=) c.1740G>A n.58-3013G>A c.644-3013G>A (n.644-3013G>A) | |
14 | g.94619328G>C | CA487625235 | SERPINA3 | c.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 |
14 | g.94619328G>T | CA487625236 | SERPINA3 | c.777G>T (p.Leu259=) c.123G>T (p.Leu41=) c.1740G>T n.58-3013G>T c.644-3013G>T (n.644-3013G>T) | |
14 | g.94619328_94619329insC | CA2575615681 | SERPINA3 | c.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) | |
14 | g.94619329T>A | CA390855894 | SERPINA3 | c.778T>A (p.Ser260Thr) c.124T>A (p.Ser42Thr) c.1741T>A n.58-3012T>A c.644-3012T>A (n.644-3012T>A) | |
14 | g.94619329T>C | CA390855895 | SERPINA3 | c.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 |
14 | g.94619329T>G | CA390855896 | SERPINA3 | c.778T>G (p.Ser260Ala) c.124T>G (p.Ser42Ala) c.1741T>G n.58-3012T>G c.644-3012T>G (n.644-3012T>G) | |
14 | g.94619329T= | CA2156074097 | SERPINA3 | c.778T= (p.Ser260=) c.124T= (p.Ser42=) c.1741T= n.58-3012T= c.644-3012T= (n.644-3012T=) | |
14 | g.94619330C>A | CA390855899 | SERPINA3 | c.779C>A (p.Ser260Tyr) c.125C>A (p.Ser42Tyr) c.1742C>A n.58-3011C>A c.644-3011C>A (n.644-3011C>A) | |
14 | g.94619330C= | CA2156074098 | SERPINA3 | c.779C= (p.Ser260=) c.125C= (p.Ser42=) c.1742C= n.58-3011C= c.644-3011C= (n.644-3011C=) | |
14 | g.94619330C>G | CA390855897 | SERPINA3 | c.779C>G (p.Ser260Cys) c.125C>G (p.Ser42Cys) c.1742C>G n.58-3011C>G c.644-3011C>G (n.644-3011C>G) | |
14 | g.94619330C>T | CA390855898 | SERPINA3 | c.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 |
14 | g.94619331C>A | CA487625237 | SERPINA3 | c.780C>A (p.Ser260=) c.126C>A (p.Ser42=) c.1743C>A n.58-3010C>A c.644-3010C>A (n.644-3010C>A) | |
14 | g.94619331C>G | CA487625238 | SERPINA3 | c.780C>G (p.Ser260=) c.126C>G (p.Ser42=) c.1743C>G n.58-3010C>G c.644-3010C>G (n.644-3010C>G) | |
14 | g.94619331C>T | CA487625239 | SERPINA3 | c.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 |
14 | g.94619332T>A | CA390855900 | SERPINA3 | c.781T>A (p.Cys261Ser) c.127T>A (p.Cys43Ser) c.1744T>A n.58-3009T>A c.644-3009T>A (n.644-3009T>A) | |
14 | g.94619332T>C | CA390855901 | SERPINA3 | c.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 |
14 | g.94619332T>G | CA390855902 | SERPINA3 | c.781T>G (p.Cys261Gly) c.127T>G (p.Cys43Gly) c.1744T>G n.58-3009T>G c.644-3009T>G (n.644-3009T>G) | |
14 | g.94619333G>A | CA7329885 | SERPINA3 | c.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 |
14 | g.94619333G>C | CA390855903 | SERPINA3 | c.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 | |
14 | g.94619333G= | CA2156074099 | SERPINA3 | c.782G= (p.Cys261=) c.128G= (p.Cys43=) c.1745G= n.58-3008G= c.644-3008G= (n.644-3008G=) c.1G= | |
14 | g.94619333G>T | CA7329884 | SERPINA3 | c.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 |
14 | g.94619334C>A | CA390855904 | SERPINA3 | c.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 | |
14 | g.94619334C>G | CA390855905 | SERPINA3 | c.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 | |
14 | g.94619334C>T | CA487625240 | SERPINA3 | c.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 | |
14 | g.94619335A= | CA2156074100 | SERPINA3 | c.784A= (p.Thr262=) c.130A= (p.Thr44=) c.1747A= n.58-3006A= c.644-3006A= (n.644-3006A=) c.3A= | |
14 | g.94619335A>C | CA390855906 | SERPINA3 | c.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 | |
14 | g.94619335A>G | CA390855907 | SERPINA3 | c.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 |
14 | g.94619335A>T | CA390855908 | SERPINA3 | c.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 |
14 | g.94619336C>A | CA390855909 | SERPINA3 | c.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 | |
14 | g.94619336C>G | CA390855911 | SERPINA3 | c.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 | |
14 | g.94619336C>T | CA390855910 | SERPINA3 | c.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 | |
14 | g.94619337C>A | CA7329886 | SERPINA3 | c.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 |
14 | g.94619337C= | CA2156074101 | SERPINA3 | c.786C= (p.Thr262=) c.132C= (p.Thr44=) c.1749C= n.58-3004C= c.644-3004C= (n.644-3004C=) c.5C= | |
14 | g.94619337C>G | CA487625241 | SERPINA3 | c.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 | |
14 | g.94619337C>T | CA7329887 | SERPINA3 | c.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 |
14 | g.94619338G>A | CA7329888 | SERPINA3 | c.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 |
14 | g.94619338G>C | CA390855912 | SERPINA3 | c.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 |
14 | g.94619338G= | CA2156074102 | SERPINA3 | c.787G= (p.Val263=) c.133G= (p.Val45=) c.1750G= n.58-3003G= c.644-3003G= (n.644-3003G=) c.6G= | |
14 | g.94619338G>T | CA265885059 | SERPINA3 | c.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 |
14 | g.94619339T>A | CA390855913 | SERPINA3 | c.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 | |
14 | g.94619339T>C | CA390855914 | SERPINA3 | c.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 |
14 | g.94619339T>G | CA390855915 | SERPINA3 | c.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 | |
14 | g.94619339T= | CA2156074103 | SERPINA3 | c.788T= (p.Val263=) c.134T= (p.Val45=) c.1751T= n.58-3002T= c.644-3002T= (n.644-3002T=) c.7T= | |
14 | g.94619340G>A | CA7329889 | SERPINA3 | c.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 |
14 | g.94619340G>C | CA487625243 | SERPINA3 | c.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 | |
14 | g.94619340G= | CA2156074104 | SERPINA3 | c.789G= (p.Val263=) c.135G= (p.Val45=) c.1752G= n.58-3001G= c.644-3001G= (n.644-3001G=) c.8G= | |
14 | g.94619340G>T | CA487625242 | SERPINA3 | c.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 | |
14 | g.94619340_94619342delinsGGT | CA2156074105 | SERPINA3 | c.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 | |
14 | g.94619341G>A | CA390855916 | SERPINA3 | c.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 |
14 | g.94619341G>C | CA390855917 | SERPINA3 | c.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 | |
14 | g.94619341G>T | CA390855918 | SERPINA3 | c.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 | |
14 | g.94619342_94619343del | CA616115365 | SERPINA3 | c.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 |
14 | g.94619342T>A | CA390855919 | SERPINA3 | c.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 | |
14 | g.94619342T>C | CA390855921 | SERPINA3 | c.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 | |
14 | g.94619342T>G | CA390855920 | SERPINA3 | c.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 | |
14 | g.94619343G>A | CA487625244 | SERPINA3 | c.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 |
14 | g.94619343G>C | CA487625245 | SERPINA3 | c.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 | |
14 | g.94619343G>T | CA487625246 | SERPINA3 | c.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 | |
14 | g.94619343_94619356delinsGGAGCTGAAGTACA | CA2156074106 | SERPINA3 | c.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 | |
14 | g.94619344G>A | CA265885078 | SERPINA3 | c.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 |
14 | g.94619344G>C | CA390855922 | SERPINA3 | c.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 |
14 | g.94619344G= | CA2156074107 | SERPINA3 | c.793G= (p.Glu265=) c.139G= (p.Glu47=) c.1756G= n.58-2997G= c.644-2997G= (n.644-2997G=) c.12G= | |
14 | g.94619344G>T | CA390855923 | SERPINA3 | c.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 | |
14 | g.94619344_94619356del | CA7329890 | SERPINA3 | c.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 |
14 | g.94619345A= | CA2156074108 | SERPINA3 | c.794A= (p.Glu265=) c.140A= (p.Glu47=) c.1757A= n.58-2996A= c.644-2996A= (n.644-2996A=) c.13A= | |
14 | g.94619345A>C | CA390855926 | SERPINA3 | c.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 |
14 | g.94619345A>G | CA390855924 | SERPINA3 | c.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 |
14 | g.94619345A>T | CA390855925 | SERPINA3 | c.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 | |
14 | g.94619346G>A | CA487625247 | SERPINA3 | c.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 | |
14 | g.94619346G>C | CA390855927 | SERPINA3 | c.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 | |
14 | g.94619346G>T | CA390855928 | SERPINA3 | c.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 | |
14 | g.94619347C>A | CA390855929 | SERPINA3 | c.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 | |
14 | g.94619347C>G | CA390855930 | SERPINA3 | c.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 | |
14 | g.94619347C>T | CA487625248 | SERPINA3 | c.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 |
14 | g.94619348T>A | CA390855931 | SERPINA3 | c.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 |
14 | g.94619348T>C | CA390855932 | SERPINA3 | c.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 | |
14 | g.94619348T>G | CA390855933 | SERPINA3 | c.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 | |
14 | g.94619349G>A | CA7329891 | SERPINA3 | c.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 |
14 | g.94619349G>C | CA487625249 | SERPINA3 | c.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 | |
14 | g.94619349G= | CA2156074109 | SERPINA3 | c.798G= (p.Leu266=) c.144G= (p.Leu48=) c.1761G= n.58-2992G= c.644-2992G= (n.644-2992G=) c.17G= | |
14 | g.94619349G>T | CA487625250 | SERPINA3 | c.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 | |
14 | g.94619350A>C | CA390855934 | SERPINA3 | c.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 | |
14 | g.94619350A>G | CA390855935 | SERPINA3 | c.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 |
14 | g.94619350A>T | CA390855936 | SERPINA3 | c.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 | |
14 | g.94619351dup | CA7329892 | SERPINA3 | c.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 |
14 | g.94619350_94619367delinsAAGTACACAGGCAATGCC | CA2156074110 | SERPINA3 | c.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 | |
14 | g.94619351A= | CA2156074111 | SERPINA3 | c.800A= (p.Lys267=) c.146A= (p.Lys49=) c.1763A= n.58-2990A= c.644-2990A= (n.644-2990A=) c.19A= | |
14 | g.94619351A>C | CA390855937 | SERPINA3 | c.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 | |
14 | g.94619351A>G | CA265885084 | SERPINA3 | c.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 |
14 | g.94619351A>T | CA390855938 | SERPINA3 | c.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 | |
14 | g.94619353_94619369del | CA7329893 | SERPINA3 | c.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 |
14 | g.94619352G>A | CA487625251 | SERPINA3 | c.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 |
14 | g.94619352G>C | CA390855939 | SERPINA3 | c.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 | |
14 | g.94619352G= | CA2156074112 | SERPINA3 | c.801G= (p.Lys267=) c.147G= (p.Lys49=) c.1764G= n.58-2989G= c.644-2989G= (n.644-2989G=) c.20G= | |
14 | g.94619352G>T | CA390855940 | SERPINA3 | c.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 | |
14 | g.94619353T>A | CA390855941 | SERPINA3 | c.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 | |
14 | g.94619353T>C | CA390855942 | SERPINA3 | c.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 | |
14 | g.94619353T>G | CA390855943 | SERPINA3 | c.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 | |
14 | g.94619354A= | CA2156074113 | SERPINA3 | c.803A= (p.Tyr268=) c.149A= (p.Tyr50=) c.1766A= n.58-2987A= c.644-2987A= (n.644-2987A=) c.22A= | |
14 | g.94619354A>C | CA390855944 | SERPINA3 | c.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 | |
14 | g.94619354A>G | CA265885103 | SERPINA3 | c.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 |
14 | g.94619354A>T | CA390855945 | SERPINA3 | c.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 | |
14 | g.94619355C>A | CA390855946 | SERPINA3 | c.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 | |
14 | g.94619355C>G | CA390855947 | SERPINA3 | c.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 | |
14 | g.94619355C>T | CA487625252 | SERPINA3 | c.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 | |
14 | g.94619356A>C | CA390855950 | SERPINA3 | c.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 |
14 | g.94619356A>G | CA390855949 | SERPINA3 | c.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 | |
14 | g.94619356A>T | CA390855948 | SERPINA3 | c.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 | |
14 | g.94619356_94619357insT | CA966147927 | SERPINA3 | c.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 |
14 | g.94619357C>A | CA390855951 | SERPINA3 | c.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 |
14 | g.94619357C>G | CA390855952 | SERPINA3 | c.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 | |
14 | g.94619357C>T | CA390855953 | SERPINA3 | c.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 |
14 | g.94619358A>C | CA487625253 | SERPINA3 | c.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 |
14 | g.94619358A>G | CA487625254 | SERPINA3 | c.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 | |
14 | g.94619358A>T | CA487625255 | SERPINA3 | c.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 | |
14 | g.94619359_94619360insCCCCTTGTCCTGTCTGATGTCATTGTCTTAAAGAAGAAAAAGAAAAATCAAGCCCAAAGCCATGTAGGCAGCATAG | CA966147935 | SERPINA3 | c.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 |
14 | g.94619359G>A | CA7329894 | SERPINA3 | c.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 |
14 | g.94619359G>C | CA390855954 | SERPINA3 | c.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 | |
14 | g.94619359G= | CA2156074114 | SERPINA3 | c.808G= (p.Gly270=) c.154G= (p.Gly52=) c.1771G= n.58-2982G= c.644-2982G= (n.644-2982G=) c.27G= | |
14 | g.94619359G>T | CA390855955 | SERPINA3 | c.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 | |
14 | g.94619360G>A | CA390855957 | SERPINA3 | c.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 | |
14 | g.94619360G>C | CA390855959 | SERPINA3 | c.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 |
14 | g.94619360G>T | CA390855961 | SERPINA3 | c.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 | |
14 | g.94619361C>A | CA487625258 | SERPINA3 | c.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 | |
14 | g.94619361C>G | CA487625257 | SERPINA3 | c.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 | |
14 | g.94619361C>T | CA487625256 | SERPINA3 | c.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 |
14 | g.94619362A>C | CA390855963 | SERPINA3 | c.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 | |
14 | g.94619362A>G | CA390855965 | SERPINA3 | c.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 |
14 | g.94619362A>T | CA390855967 | SERPINA3 | c.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 | |
14 | g.94619363A= | CA2156074115 | SERPINA3 | c.812A= (p.Asn271=) c.158A= (p.Asn53=) c.1775A= n.58-2978A= c.644-2978A= (n.644-2978A=) c.31A= | |
14 | g.94619363A>C | CA390855972 | SERPINA3 | c.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 | |
14 | g.94619363A>G | CA265885124 | SERPINA3 | c.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 |
14 | g.94619363A>T | CA390855969 | SERPINA3 | c.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 | |
14 | g.94619364T>A | CA390855973 | SERPINA3 | c.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 | |
14 | g.94619364T>C | CA487625259 | SERPINA3 | c.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 | |
14 | g.94619364T>G | CA390855976 | SERPINA3 | c.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 | |
14 | g.94619365G>A | CA390855978 | SERPINA3 | c.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 |
14 | g.94619365G>C | CA390855980 | SERPINA3 | c.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 | |
14 | g.94619365G>T | CA390855981 | SERPINA3 | c.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 | |
14 | g.94619366C>A | CA390855983 | SERPINA3 | c.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 | |
14 | g.94619366C= | CA2156074116 | SERPINA3 | c.815C= (p.Ala272=) c.161C= (p.Ala54=) c.1778C= n.58-2975C= c.644-2975C= (n.644-2975C=) c.34C= | |
14 | g.94619366C>G | CA7329895 | SERPINA3 | c.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 |
14 | g.94619366C>T | CA390855986 | SERPINA3 | c.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 |
14 | g.94619367C>A | CA487625260 | SERPINA3 | c.816C>A (p.Ala272=) c.162C>A (p.Ala54=) c.1779C>A n.58-2974C>A c.644-2974C>A (n.644-2974C>A) c.35C>A | |
14 | g.94619367C= | CA2156074117 | SERPINA3 | c.816C= (p.Ala272=) c.162C= (p.Ala54=) c.1779C= n.58-2974C= c.644-2974C= (n.644-2974C=) c.35C= | |
14 | g.94619367C>G | CA487625262 | SERPINA3 | c.816C>G (p.Ala272=) c.162C>G (p.Ala54=) c.1779C>G n.58-2974C>G c.644-2974C>G (n.644-2974C>G) c.35C>G | |
14 | g.94619367C>T | CA487625261 | SERPINA3 | c.816C>T (p.Ala272=) c.162C>T (p.Ala54=) c.1779C>T n.58-2974C>T c.644-2974C>T (n.644-2974C>T) c.35C>T | dbSNP gnomAD v2 |
14 | g.94619368A>C | CA390855988 | SERPINA3 | c.817A>C (p.Ser273Arg) c.163A>C (p.Ser55Arg) c.1780A>C n.58-2973A>C c.644-2973A>C (n.644-2973A>C) c.36A>C | |
14 | g.94619368A>G | CA390855990 | SERPINA3 | c.817A>G (p.Ser273Gly) c.163A>G (p.Ser55Gly) c.1780A>G n.58-2973A>G c.644-2973A>G (n.644-2973A>G) c.36A>G | |
14 | g.94619368A>T | CA390855992 | SERPINA3 | c.817A>T (p.Ser273Cys) c.163A>T (p.Ser55Cys) c.1780A>T n.58-2973A>T c.644-2973A>T (n.644-2973A>T) c.36A>T | |
14 | g.94619369G>A | CA390855994 | SERPINA3 | c.818G>A (p.Ser273Asn) c.164G>A (p.Ser55Asn) c.1781G>A n.58-2972G>A c.644-2972G>A (n.644-2972G>A) c.37G>A | gnomAD v4 |
14 | g.94619369G>C | CA390855996 | SERPINA3 | c.818G>C (p.Ser273Thr) c.164G>C (p.Ser55Thr) c.1781G>C n.58-2972G>C c.644-2972G>C (n.644-2972G>C) c.37G>C | |
14 | g.94619369G>T | CA390855998 | SERPINA3 | c.818G>T (p.Ser273Ile) c.164G>T (p.Ser55Ile) c.1781G>T n.58-2972G>T c.644-2972G>T (n.644-2972G>T) c.37G>T | |
14 | g.94619370C>A | CA7329897 | SERPINA3 | c.819C>A (p.Ser273Arg) c.165C>A (p.Ser55Arg) c.1782C>A n.58-2971C>A c.644-2971C>A (n.644-2971C>A) c.38C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619370C= | CA2156074118 | SERPINA3 | c.819C= (p.Ser273=) c.165C= (p.Ser55=) c.1782C= n.58-2971C= c.644-2971C= (n.644-2971C=) c.38C= | |
14 | g.94619370C>G | CA390856002 | SERPINA3 | c.819C>G (p.Ser273Arg) c.165C>G (p.Ser55Arg) c.1782C>G n.58-2971C>G c.644-2971C>G (n.644-2971C>G) c.38C>G | |
14 | g.94619370C>T | CA7329896 | SERPINA3 | c.819C>T (p.Ser273=) c.165C>T (p.Ser55=) c.1782C>T n.58-2971C>T c.644-2971C>T (n.644-2971C>T) c.38C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619371G>A | CA7329898 | SERPINA3 | c.820G>A (p.Ala274Thr) c.166G>A (p.Ala56Thr) c.1783G>A n.58-2970G>A c.644-2970G>A (n.644-2970G>A) c.39G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619371G>C | CA390856006 | SERPINA3 | c.820G>C (p.Ala274Pro) c.166G>C (p.Ala56Pro) c.1783G>C n.58-2970G>C c.644-2970G>C (n.644-2970G>C) c.39G>C | dbSNP gnomAD v4 |
14 | g.94619371G= | CA2156074119 | SERPINA3 | c.820G= (p.Ala274=) c.166G= (p.Ala56=) c.1783G= n.58-2970G= c.644-2970G= (n.644-2970G=) c.39G= | |
14 | g.94619371G>T | CA390856008 | SERPINA3 | c.820G>T (p.Ala274Ser) c.166G>T (p.Ala56Ser) c.1783G>T n.58-2970G>T c.644-2970G>T (n.644-2970G>T) c.39G>T | gnomAD v4 |
14 | g.94619372C>A | CA390856009 | SERPINA3 | c.821C>A (p.Ala274Glu) c.167C>A (p.Ala56Glu) c.1784C>A n.58-2969C>A c.644-2969C>A (n.644-2969C>A) c.40C>A | |
14 | g.94619372C>G | CA390856010 | SERPINA3 | c.821C>G (p.Ala274Gly) c.167C>G (p.Ala56Gly) c.1784C>G n.58-2969C>G c.644-2969C>G (n.644-2969C>G) c.40C>G | |
14 | g.94619372C>T | CA390856012 | SERPINA3 | c.821C>T (p.Ala274Val) c.167C>T (p.Ala56Val) c.1784C>T n.58-2969C>T c.644-2969C>T (n.644-2969C>T) c.40C>T | |
14 | g.94619373A= | CA2156074120 | SERPINA3 | c.822A= (p.Ala274=) c.168A= (p.Ala56=) c.1785A= n.58-2968A= c.644-2968A= (n.644-2968A=) c.41A= | |
14 | g.94619373A>C | CA7329899 | SERPINA3 | c.822A>C (p.Ala274=) c.168A>C (p.Ala56=) c.1785A>C n.58-2968A>C c.644-2968A>C (n.644-2968A>C) c.41A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619373A>G | CA265885163 | SERPINA3 | c.822A>G (p.Ala274=) c.168A>G (p.Ala56=) c.1785A>G n.58-2968A>G c.644-2968A>G (n.644-2968A>G) c.41A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619373A>T | CA487625263 | SERPINA3 | c.822A>T (p.Ala274=) c.168A>T (p.Ala56=) c.1785A>T n.58-2968A>T c.644-2968A>T (n.644-2968A>T) c.41A>T | gnomAD v4 |
14 | g.94619374C>A | CA390856015 | SERPINA3 | c.823C>A (p.Leu275Ile) c.169C>A (p.Leu57Ile) c.1786C>A n.58-2967C>A c.644-2967C>A (n.644-2967C>A) c.42C>A | |
14 | g.94619374C>G | CA390856017 | SERPINA3 | c.823C>G (p.Leu275Val) c.169C>G (p.Leu57Val) c.1786C>G n.58-2967C>G c.644-2967C>G (n.644-2967C>G) c.42C>G | COSMIC COSMIC |
14 | g.94619374C>T | CA390856019 | SERPINA3 | c.823C>T (p.Leu275Phe) c.169C>T (p.Leu57Phe) c.1786C>T n.58-2967C>T c.644-2967C>T (n.644-2967C>T) c.42C>T | |
14 | g.94619375T>A | CA390856021 | SERPINA3 | c.824T>A (p.Leu275His) c.170T>A (p.Leu57His) c.1787T>A n.58-2966T>A c.644-2966T>A (n.644-2966T>A) c.43T>A | |
14 | g.94619375T>C | CA390856023 | SERPINA3 | c.824T>C (p.Leu275Pro) c.170T>C (p.Leu57Pro) c.1787T>C n.58-2966T>C c.644-2966T>C (n.644-2966T>C) c.43T>C | gnomAD v4 |
14 | g.94619375T>G | CA390856024 | SERPINA3 | c.824T>G (p.Leu275Arg) c.170T>G (p.Leu57Arg) c.1787T>G n.58-2966T>G c.644-2966T>G (n.644-2966T>G) c.43T>G | |
14 | g.94619376C>A | CA487625264 | SERPINA3 | c.825C>A (p.Leu275=) c.171C>A (p.Leu57=) c.1788C>A n.58-2965C>A c.644-2965C>A (n.644-2965C>A) c.44C>A | |
14 | g.94619376C= | CA2156074121 | SERPINA3 | c.825C= (p.Leu275=) c.171C= (p.Leu57=) c.1788C= n.58-2965C= c.644-2965C= (n.644-2965C=) c.44C= | |
14 | g.94619376C>G | CA7329900 | SERPINA3 | c.825C>G (p.Leu275=) c.171C>G (p.Leu57=) c.1788C>G n.58-2965C>G c.644-2965C>G (n.644-2965C>G) c.44C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619376C>T | CA487625265 | SERPINA3 | c.825C>T (p.Leu275=) c.171C>T (p.Leu57=) c.1788C>T n.58-2965C>T c.644-2965C>T (n.644-2965C>T) c.44C>T | dbSNP |
14 | g.94619377T>A | CA390856031 | SERPINA3 | c.826T>A (p.Phe276Ile) c.172T>A (p.Phe58Ile) c.1789T>A n.58-2964T>A c.644-2964T>A (n.644-2964T>A) c.45T>A | |
14 | g.94619377T>C | CA390856028 | SERPINA3 | c.826T>C (p.Phe276Leu) c.172T>C (p.Phe58Leu) c.1789T>C n.58-2964T>C c.644-2964T>C (n.644-2964T>C) c.45T>C | |
14 | g.94619377T>G | CA390856029 | SERPINA3 | c.826T>G (p.Phe276Val) c.172T>G (p.Phe58Val) c.1789T>G n.58-2964T>G c.644-2964T>G (n.644-2964T>G) c.45T>G | |
14 | g.94619378T>A | CA390856034 | SERPINA3 | c.827T>A (p.Phe276Tyr) c.173T>A (p.Phe58Tyr) c.1790T>A n.58-2963T>A c.644-2963T>A (n.644-2963T>A) c.46T>A | |
14 | g.94619378T>C | CA390856035 | SERPINA3 | c.827T>C (p.Phe276Ser) c.173T>C (p.Phe58Ser) c.1790T>C n.58-2963T>C c.644-2963T>C (n.644-2963T>C) c.46T>C | |
14 | g.94619378T>G | CA390856037 | SERPINA3 | c.827T>G (p.Phe276Cys) c.173T>G (p.Phe58Cys) c.1790T>G n.58-2963T>G c.644-2963T>G (n.644-2963T>G) c.46T>G | |
14 | g.94619379C>A | CA390856039 | SERPINA3 | c.828C>A (p.Phe276Leu) c.174C>A (p.Phe58Leu) c.1791C>A n.58-2962C>A c.644-2962C>A (n.644-2962C>A) c.47C>A | |
14 | g.94619379C>G | CA390856041 | SERPINA3 | c.828C>G (p.Phe276Leu) c.174C>G (p.Phe58Leu) c.1791C>G n.58-2962C>G c.644-2962C>G (n.644-2962C>G) c.47C>G | |
14 | g.94619379C>T | CA487625266 | SERPINA3 | c.828C>T (p.Phe276=) c.174C>T (p.Phe58=) c.1791C>T n.58-2962C>T c.644-2962C>T (n.644-2962C>T) c.47C>T | gnomAD v4 |
14 | g.94619380A= | CA2156074122 | SERPINA3 | c.829A= (p.Ile277=) c.175A= (p.Ile59=) c.1792A= n.58-2961A= c.644-2961A= (n.644-2961A=) c.48A= | |
14 | g.94619380A>C | CA390856043 | SERPINA3 | c.829A>C (p.Ile277Leu) c.175A>C (p.Ile59Leu) c.1792A>C n.58-2961A>C c.644-2961A>C (n.644-2961A>C) c.48A>C | |
14 | g.94619380A>G | CA390856045 | SERPINA3 | c.829A>G (p.Ile277Val) c.175A>G (p.Ile59Val) c.1792A>G n.58-2961A>G c.644-2961A>G (n.644-2961A>G) c.48A>G | gnomAD v4 |
14 | g.94619380A>T | CA7329901 | SERPINA3 | c.829A>T (p.Ile277Phe) c.175A>T (p.Ile59Phe) c.1792A>T n.58-2961A>T c.644-2961A>T (n.644-2961A>T) c.48A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619381T>A | CA390856048 | SERPINA3 | c.830T>A (p.Ile277Asn) c.176T>A (p.Ile59Asn) c.1793T>A n.58-2960T>A c.644-2960T>A (n.644-2960T>A) c.49T>A | |
14 | g.94619381T>C | CA390856049 | SERPINA3 | c.830T>C (p.Ile277Thr) c.176T>C (p.Ile59Thr) c.1793T>C n.58-2960T>C c.644-2960T>C (n.644-2960T>C) c.49T>C | |
14 | g.94619381T>G | CA390856051 | SERPINA3 | c.830T>G (p.Ile277Ser) c.176T>G (p.Ile59Ser) c.1793T>G n.58-2960T>G c.644-2960T>G (n.644-2960T>G) c.49T>G | |
14 | g.94619382C>A | CA487625267 | SERPINA3 | c.831C>A (p.Ile277=) c.177C>A (p.Ile59=) c.1794C>A n.58-2959C>A c.644-2959C>A (n.644-2959C>A) c.50C>A | |
14 | g.94619382C>G | CA390856053 | SERPINA3 | c.831C>G (p.Ile277Met) c.177C>G (p.Ile59Met) c.1794C>G n.58-2959C>G c.644-2959C>G (n.644-2959C>G) c.50C>G | gnomAD v4 |
14 | g.94619382C>T | CA487625268 | SERPINA3 | c.831C>T (p.Ile277=) c.177C>T (p.Ile59=) c.1794C>T n.58-2959C>T c.644-2959C>T (n.644-2959C>T) c.50C>T | |
14 | g.94619383C>A | CA390856055 | SERPINA3 | c.832C>A (p.Leu278Ile) c.178C>A (p.Leu60Ile) c.1795C>A n.58-2958C>A c.644-2958C>A (n.644-2958C>A) c.51C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619383C= | CA2156074123 | SERPINA3 | c.832C= (p.Leu278=) c.178C= (p.Leu60=) c.1795C= n.58-2958C= c.644-2958C= (n.644-2958C=) c.51C= | |
14 | g.94619383C>G | CA390856058 | SERPINA3 | c.832C>G (p.Leu278Val) c.178C>G (p.Leu60Val) c.1795C>G n.58-2958C>G c.644-2958C>G (n.644-2958C>G) c.51C>G | |
14 | g.94619383C>T | CA390856056 | SERPINA3 | c.832C>T (p.Leu278Phe) c.178C>T (p.Leu60Phe) c.1795C>T n.58-2958C>T c.644-2958C>T (n.644-2958C>T) c.51C>T | gnomAD v4 |
14 | g.94619384T>A | CA390856061 | SERPINA3 | c.833T>A (p.Leu278His) c.179T>A (p.Leu60His) c.1796T>A n.58-2957T>A c.644-2957T>A (n.644-2957T>A) c.52T>A | |
14 | g.94619384T>C | CA7329902 | SERPINA3 | c.833T>C (p.Leu278Pro) c.179T>C (p.Leu60Pro) c.1796T>C n.58-2957T>C c.644-2957T>C (n.644-2957T>C) c.52T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619384T>G | CA390856063 | SERPINA3 | c.833T>G (p.Leu278Arg) c.179T>G (p.Leu60Arg) c.1796T>G n.58-2957T>G c.644-2957T>G (n.644-2957T>G) c.52T>G | |
14 | g.94619384T= | CA2156074124 | SERPINA3 | c.833T= (p.Leu278=) c.179T= (p.Leu60=) c.1796T= n.58-2957T= c.644-2957T= (n.644-2957T=) c.52T= | |
14 | g.94619385C>A | CA487625269 | SERPINA3 | c.834C>A (p.Leu278=) c.180C>A (p.Leu60=) c.1797C>A n.58-2956C>A c.644-2956C>A (n.644-2956C>A) c.53C>A | gnomAD v4 |
14 | g.94619385C= | CA2156074125 | SERPINA3 | c.834C= (p.Leu278=) c.180C= (p.Leu60=) c.1797C= n.58-2956C= c.644-2956C= (n.644-2956C=) c.53C= | |
14 | g.94619385C>G | CA487625270 | SERPINA3 | c.834C>G (p.Leu278=) c.180C>G (p.Leu60=) c.1797C>G n.58-2956C>G c.644-2956C>G (n.644-2956C>G) c.53C>G | gnomAD v4 |
14 | g.94619385C>T | CA265885183 | SERPINA3 | c.834C>T (p.Leu278=) c.180C>T (p.Leu60=) c.1797C>T n.58-2956C>T c.644-2956C>T (n.644-2956C>T) c.53C>T | dbSNP gnomAD v4 |
14 | g.94619386C>A | CA390856066 | SERPINA3 | c.835C>A (p.Pro279Thr) c.181C>A (p.Pro61Thr) c.1798C>A n.58-2955C>A c.644-2955C>A (n.644-2955C>A) c.54C>A | |
14 | g.94619386C= | CA2156074126 | SERPINA3 | c.835C= (p.Pro279=) c.181C= (p.Pro61=) c.1798C= n.58-2955C= c.644-2955C= (n.644-2955C=) c.54C= | |
14 | g.94619386C>G | CA390856068 | SERPINA3 | c.835C>G (p.Pro279Ala) c.181C>G (p.Pro61Ala) c.1798C>G n.58-2955C>G c.644-2955C>G (n.644-2955C>G) c.54C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619386C>T | CA390856070 | SERPINA3 | c.835C>T (p.Pro279Ser) c.181C>T (p.Pro61Ser) c.1798C>T n.58-2955C>T c.644-2955C>T (n.644-2955C>T) c.54C>T | COSMIC |
14 | g.94619387C>A | CA390856072 | SERPINA3 | c.836C>A (p.Pro279His) c.182C>A (p.Pro61His) c.1799C>A n.58-2954C>A c.644-2954C>A (n.644-2954C>A) c.55C>A | |
14 | g.94619387C>G | CA390856075 | SERPINA3 | c.836C>G (p.Pro279Arg) c.182C>G (p.Pro61Arg) c.1799C>G n.58-2954C>G c.644-2954C>G (n.644-2954C>G) c.55C>G | |
14 | g.94619387C>T | CA390856076 | SERPINA3 | c.836C>T (p.Pro279Leu) c.182C>T (p.Pro61Leu) c.1799C>T n.58-2954C>T c.644-2954C>T (n.644-2954C>T) c.55C>T | |
14 | g.94619388T>A | CA487625273 | SERPINA3 | c.837T>A (p.Pro279=) c.183T>A (p.Pro61=) c.1800T>A n.58-2953T>A c.644-2953T>A (n.644-2953T>A) c.56T>A | |
14 | g.94619388T>C | CA487625272 | SERPINA3 | c.837T>C (p.Pro279=) c.183T>C (p.Pro61=) c.1800T>C n.58-2953T>C c.644-2953T>C (n.644-2953T>C) c.56T>C | |
14 | g.94619388T>G | CA487625271 | SERPINA3 | c.837T>G (p.Pro279=) c.183T>G (p.Pro61=) c.1800T>G n.58-2953T>G c.644-2953T>G (n.644-2953T>G) c.56T>G | |
14 | g.94619389G>A | CA390856082 | SERPINA3 | c.838G>A (p.Asp280Asn) c.184G>A (p.Asp62Asn) c.1801G>A n.58-2952G>A c.644-2952G>A (n.644-2952G>A) c.57G>A | |
14 | g.94619389G>C | CA390856081 | SERPINA3 | c.838G>C (p.Asp280His) c.184G>C (p.Asp62His) c.1801G>C n.58-2952G>C c.644-2952G>C (n.644-2952G>C) c.57G>C | |
14 | g.94619389G>T | CA390856079 | SERPINA3 | c.838G>T (p.Asp280Tyr) c.184G>T (p.Asp62Tyr) c.1801G>T n.58-2952G>T c.644-2952G>T (n.644-2952G>T) c.57G>T | gnomAD v4 |
14 | g.94619390A>C | CA390856085 | SERPINA3 | c.839A>C (p.Asp280Ala) c.185A>C (p.Asp62Ala) c.1802A>C n.58-2951A>C c.644-2951A>C (n.644-2951A>C) c.58A>C | |
14 | g.94619390A>G | CA390856089 | SERPINA3 | c.839A>G (p.Asp280Gly) c.185A>G (p.Asp62Gly) c.1802A>G n.58-2951A>G c.644-2951A>G (n.644-2951A>G) c.58A>G | |
14 | g.94619390A>T | CA390856086 | SERPINA3 | c.839A>T (p.Asp280Val) c.185A>T (p.Asp62Val) c.1802A>T n.58-2951A>T c.644-2951A>T (n.644-2951A>T) c.58A>T | |
14 | g.94619391T>A | CA390856091 | SERPINA3 | c.840T>A (p.Asp280Glu) c.186T>A (p.Asp62Glu) c.1803T>A n.58-2950T>A c.644-2950T>A (n.644-2950T>A) c.59T>A | |
14 | g.94619391T>C | CA487625274 | SERPINA3 | c.840T>C (p.Asp280=) c.186T>C (p.Asp62=) c.1803T>C n.58-2950T>C c.644-2950T>C (n.644-2950T>C) c.59T>C | |
14 | g.94619391T>G | CA265885185 | SERPINA3 | c.840T>G (p.Asp280Glu) c.186T>G (p.Asp62Glu) c.1803T>G n.58-2950T>G c.644-2950T>G (n.644-2950T>G) c.59T>G | dbSNP |
14 | g.94619391T= | CA2156074127 | SERPINA3 | c.840T= (p.Asp280=) c.186T= (p.Asp62=) c.1803T= n.58-2950T= c.644-2950T= (n.644-2950T=) c.59T= | |
14 | g.94619392C>A | CA390856093 | SERPINA3 | c.841C>A (p.Gln281Lys) c.187C>A (p.Gln63Lys) c.1804C>A n.58-2949C>A c.644-2949C>A (n.644-2949C>A) c.60C>A | |
14 | g.94619392C= | CA2156074128 | SERPINA3 | c.841C= (p.Gln281=) c.187C= (p.Gln63=) c.1804C= n.58-2949C= c.644-2949C= (n.644-2949C=) c.60C= | |
14 | g.94619392C>G | CA390856094 | SERPINA3 | c.841C>G (p.Gln281Glu) c.187C>G (p.Gln63Glu) c.1804C>G n.58-2949C>G c.644-2949C>G (n.644-2949C>G) c.60C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619392C>T | CA390856096 | SERPINA3 | c.841C>T (p.Gln281Ter) c.187C>T (p.Gln63Ter) c.1804C>T n.58-2949C>T c.644-2949C>T (n.644-2949C>T) c.60C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619393A= | CA2156074129 | SERPINA3 | c.842A= (p.Gln281=) c.188A= (p.Gln63=) c.1805A= n.58-2948A= c.644-2948A= (n.644-2948A=) c.61A= | |
14 | g.94619393A>C | CA7329903 | SERPINA3 | c.842A>C (p.Gln281Pro) c.188A>C (p.Gln63Pro) c.1805A>C n.58-2948A>C c.644-2948A>C (n.644-2948A>C) c.61A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619393A>G | CA390856099 | SERPINA3 | c.842A>G (p.Gln281Arg) c.188A>G (p.Gln63Arg) c.1805A>G n.58-2948A>G c.644-2948A>G (n.644-2948A>G) c.61A>G | |
14 | g.94619393A>T | CA390856101 | SERPINA3 | c.842A>T (p.Gln281Leu) c.188A>T (p.Gln63Leu) c.1805A>T n.58-2948A>T c.644-2948A>T (n.644-2948A>T) c.61A>T | |
14 | g.94619394A= | CA2156074130 | SERPINA3 | c.843A= (p.Gln281=) c.189A= (p.Gln63=) c.1806A= n.58-2947A= c.644-2947A= (n.644-2947A=) c.62A= | |
14 | g.94619394A>C | CA390856103 | SERPINA3 | c.843A>C (p.Gln281His) c.189A>C (p.Gln63His) c.1806A>C n.58-2947A>C c.644-2947A>C (n.644-2947A>C) c.62A>C | |
14 | g.94619394A>G | CA487625275 | SERPINA3 | c.843A>G (p.Gln281=) c.189A>G (p.Gln63=) c.1806A>G n.58-2947A>G c.644-2947A>G (n.644-2947A>G) c.62A>G | gnomAD v4 |
14 | g.94619394A>T | CA7329904 | SERPINA3 | c.843A>T (p.Gln281His) c.189A>T (p.Gln63His) c.1806A>T n.58-2947A>T c.644-2947A>T (n.644-2947A>T) c.62A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619395G>A | CA390856106 | SERPINA3 | c.844G>A (p.Asp282Asn) c.190G>A (p.Asp64Asn) c.1807G>A n.58-2946G>A c.644-2946G>A (n.644-2946G>A) c.63G>A | gnomAD v4 |
14 | g.94619395G>C | CA390856108 | SERPINA3 | c.844G>C (p.Asp282His) c.190G>C (p.Asp64His) c.1807G>C n.58-2946G>C c.644-2946G>C (n.644-2946G>C) c.63G>C | |
14 | g.94619395G>T | CA390856110 | SERPINA3 | c.844G>T (p.Asp282Tyr) c.190G>T (p.Asp64Tyr) c.1807G>T n.58-2946G>T c.644-2946G>T (n.644-2946G>T) c.63G>T | gnomAD v4 |
14 | g.94619396A>C | CA390856116 | SERPINA3 | c.845A>C (p.Asp282Ala) c.191A>C (p.Asp64Ala) c.1808A>C n.58-2945A>C c.644-2945A>C (n.644-2945A>C) c.64A>C | |
14 | g.94619396A>G | CA390856114 | SERPINA3 | c.845A>G (p.Asp282Gly) c.191A>G (p.Asp64Gly) c.1808A>G n.58-2945A>G c.644-2945A>G (n.644-2945A>G) c.64A>G | |
14 | g.94619396A>T | CA390856112 | SERPINA3 | c.845A>T (p.Asp282Val) c.191A>T (p.Asp64Val) c.1808A>T n.58-2945A>T c.644-2945A>T (n.644-2945A>T) c.64A>T | |
14 | g.94619397C>A | CA390856118 | SERPINA3 | c.846C>A (p.Asp282Glu) c.192C>A (p.Asp64Glu) c.1809C>A n.58-2944C>A c.644-2944C>A (n.644-2944C>A) c.65C>A | |
14 | g.94619397C>G | CA390856120 | SERPINA3 | c.846C>G (p.Asp282Glu) c.192C>G (p.Asp64Glu) c.1809C>G n.58-2944C>G c.644-2944C>G (n.644-2944C>G) c.65C>G | |
14 | g.94619397C>T | CA487625276 | SERPINA3 | c.846C>T (p.Asp282=) c.192C>T (p.Asp64=) c.1809C>T n.58-2944C>T c.644-2944C>T (n.644-2944C>T) c.65C>T | |
14 | g.94619398A>C | CA390856122 | SERPINA3 | c.847A>C (p.Lys283Gln) c.193A>C (p.Lys65Gln) c.1810A>C n.58-2943A>C c.644-2943A>C (n.644-2943A>C) c.66A>C | |
14 | g.94619398A>G | CA390856124 | SERPINA3 | c.847A>G (p.Lys283Glu) c.193A>G (p.Lys65Glu) c.1810A>G n.58-2943A>G c.644-2943A>G (n.644-2943A>G) c.66A>G | gnomAD v4 |
14 | g.94619398A>T | CA390856126 | SERPINA3 | c.847A>T (p.Lys283Ter) c.193A>T (p.Lys65Ter) c.1810A>T n.58-2943A>T c.644-2943A>T (n.644-2943A>T) c.66A>T | |
14 | g.94619399A>C | CA390856128 | SERPINA3 | c.848A>C (p.Lys283Thr) c.194A>C (p.Lys65Thr) c.1811A>C n.58-2942A>C c.644-2942A>C (n.644-2942A>C) c.67A>C | |
14 | g.94619399A>G | CA390856130 | SERPINA3 | c.848A>G (p.Lys283Arg) c.194A>G (p.Lys65Arg) c.1811A>G n.58-2942A>G c.644-2942A>G (n.644-2942A>G) c.67A>G | |
14 | g.94619399A>T | CA390856132 | SERPINA3 | c.848A>T (p.Lys283Met) c.194A>T (p.Lys65Met) c.1811A>T n.58-2942A>T c.644-2942A>T (n.644-2942A>T) c.67A>T | |
14 | g.94619400G>A | CA487625277 | SERPINA3 | c.849G>A (p.Lys283=) c.195G>A (p.Lys65=) c.1812G>A n.58-2941G>A c.644-2941G>A (n.644-2941G>A) c.68G>A | |
14 | g.94619400G>C | CA390856134 | SERPINA3 | c.849G>C (p.Lys283Asn) c.195G>C (p.Lys65Asn) c.1812G>C n.58-2941G>C c.644-2941G>C (n.644-2941G>C) c.68G>C | |
14 | g.94619400G>T | CA390856136 | SERPINA3 | c.849G>T (p.Lys283Asn) c.195G>T (p.Lys65Asn) c.1812G>T n.58-2941G>T c.644-2941G>T (n.644-2941G>T) c.68G>T | |
14 | g.94619401A= | CA2156074131 | SERPINA3 | c.850A= (p.Met284=) c.196A= (p.Met66=) c.1813A= n.58-2940A= c.644-2940A= (n.644-2940A=) c.69A= | |
14 | g.94619401A>C | CA390856138 | SERPINA3 | c.850A>C (p.Met284Leu) c.196A>C (p.Met66Leu) c.1813A>C n.58-2940A>C c.644-2940A>C (n.644-2940A>C) c.69A>C | |
14 | g.94619401A>G | CA390856140 | SERPINA3 | c.850A>G (p.Met284Val) c.196A>G (p.Met66Val) c.1813A>G n.58-2940A>G c.644-2940A>G (n.644-2940A>G) c.69A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619401A>T | CA390856142 | SERPINA3 | c.850A>T (p.Met284Leu) c.196A>T (p.Met66Leu) c.1813A>T n.58-2940A>T c.644-2940A>T (n.644-2940A>T) c.69A>T | |
14 | g.94619402T>A | CA390856147 | SERPINA3 | c.851T>A (p.Met284Lys) c.197T>A (p.Met66Lys) c.1814T>A n.58-2939T>A c.644-2939T>A (n.644-2939T>A) c.70T>A | |
14 | g.94619402T>C | CA390856149 | SERPINA3 | c.851T>C (p.Met284Thr) c.197T>C (p.Met66Thr) c.1814T>C n.58-2939T>C c.644-2939T>C (n.644-2939T>C) c.70T>C | |
14 | g.94619402T>G | CA390856145 | SERPINA3 | c.851T>G (p.Met284Arg) c.197T>G (p.Met66Arg) c.1814T>G n.58-2939T>G c.644-2939T>G (n.644-2939T>G) c.70T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619402T= | CA2156074132 | SERPINA3 | c.851T= (p.Met284=) c.197T= (p.Met66=) c.1814T= n.58-2939T= c.644-2939T= (n.644-2939T=) c.70T= | |
14 | g.94619403G>A | CA390856151 | SERPINA3 | c.852G>A (p.Met284Ile) c.198G>A (p.Met66Ile) c.1815G>A n.58-2938G>A c.644-2938G>A (n.644-2938G>A) c.71G>A | COSMIC COSMIC |
14 | g.94619403G>C | CA390856153 | SERPINA3 | c.852G>C (p.Met284Ile) c.198G>C (p.Met66Ile) c.1815G>C n.58-2938G>C c.644-2938G>C (n.644-2938G>C) c.71G>C | |
14 | g.94619403G>T | CA390856155 | SERPINA3 | c.852G>T (p.Met284Ile) c.198G>T (p.Met66Ile) c.1815G>T n.58-2938G>T c.644-2938G>T (n.644-2938G>T) c.71G>T | |
14 | g.94619404G>A | CA390856157 | SERPINA3 | c.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 |
14 | g.94619404G>C | CA390856159 | SERPINA3 | c.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 |
14 | g.94619404G= | CA2156074133 | SERPINA3 | c.853G= (p.Glu285=) c.199G= (p.Glu67=) c.1816G= n.58-2937G= c.644-2937G= (n.644-2937G=) c.72G= | |
14 | g.94619404G>T | CA390856161 | SERPINA3 | c.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 | |
14 | g.94619405A>C | CA390856162 | SERPINA3 | c.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 | |
14 | g.94619405A>G | CA390856164 | SERPINA3 | c.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 | |
14 | g.94619405A>T | CA390856166 | SERPINA3 | c.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 | |
14 | g.94619406G>A | CA7329905 | SERPINA3 | c.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 |
14 | g.94619406G>C | CA390856169 | SERPINA3 | c.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 | |
14 | g.94619406G= | CA2156074134 | SERPINA3 | c.855G= (p.Glu285=) c.201G= (p.Glu67=) c.1818G= n.58-2935G= c.644-2935G= (n.644-2935G=) c.74G= | |
14 | g.94619406G>T | CA390856171 | SERPINA3 | c.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 | |
14 | g.94619407G>A | CA390856178 | SERPINA3 | c.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 |
14 | g.94619407G>C | CA390856175 | SERPINA3 | c.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 | |
14 | g.94619407G>T | CA390856176 | SERPINA3 | c.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 | |
14 | g.94619408A= | CA2156074135 | SERPINA3 | c.857A= (p.Glu286=) c.203A= (p.Glu68=) c.1820A= n.58-2933A= c.644-2933A= (n.644-2933A=) c.76A= | |
14 | g.94619408A>C | CA390856180 | SERPINA3 | c.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 | |
14 | g.94619408A>G | CA390856181 | SERPINA3 | c.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 | |
14 | g.94619408A>T | CA265885192 | SERPINA3 | c.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 |
14 | g.94619409A>C | CA390856183 | SERPINA3 | c.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 | |
14 | g.94619409A>G | CA487625278 | SERPINA3 | c.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 | |
14 | g.94619409A>T | CA390856185 | SERPINA3 | c.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 | |
14 | g.94619410G>A | CA390856188 | SERPINA3 | c.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 |
14 | g.94619410G>C | CA390856190 | SERPINA3 | c.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 | |
14 | g.94619410G= | CA2156074136 | SERPINA3 | c.859G= (p.Val287=) c.205G= (p.Val69=) c.1822G= n.58-2931G= c.644-2931G= (n.644-2931G=) c.78G= | |
14 | g.94619410G>T | CA390856191 | SERPINA3 | c.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 | |
14 | g.94619410dup | CA2838582067 | SERPINA3 | c.859dup (p.Val287GlyfsTer24) c.205dup (p.Val69GlyfsTer24) c.1822dup c.859dup (p.Val287GlyfsTer?) n.58-2931dup c.644-2931dup (n.644-2931dup) c.78dup | |
14 | g.94619411T>A | CA390856194 | SERPINA3 | c.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 | |
14 | g.94619411T>C | CA390856196 | SERPINA3 | c.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 |
14 | g.94619411T>G | CA390856197 | SERPINA3 | c.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 |
14 | g.94619411T= | CA2156074137 | SERPINA3 | c.860T= (p.Val287=) c.206T= (p.Val69=) c.1823T= n.58-2930T= c.644-2930T= (n.644-2930T=) c.79T= | |
14 | g.94619412G>A | CA265885200 | SERPINA3 | c.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 |
14 | g.94619412G>C | CA487625279 | SERPINA3 | c.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 | |
14 | g.94619412G= | CA2156074138 | SERPINA3 | c.861G= (p.Val287=) c.207G= (p.Val69=) c.1824G= n.58-2929G= c.644-2929G= (n.644-2929G=) c.80G= | |
14 | g.94619412G>T | CA487625280 | SERPINA3 | c.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 |