Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619305C>A | CA390855844 | SERPINA3 | c.754C>A (p.Pro252Thr) c.100C>A (p.Pro34Thr) c.1717C>A n.58-3036C>A c.644-3036C>A (n.644-3036C>A) | gnomAD v4 |
14 | g.94619305C= | CA2156074086 | SERPINA3 | c.754C= (p.Pro252=) c.100C= (p.Pro34=) c.1717C= n.58-3036C= c.644-3036C= (n.644-3036C=) | |
14 | g.94619305C>G | CA127757 | SERPINA3 | c.754C>G (p.Pro252Ala) c.100C>G (p.Pro34Ala) c.1717C>G n.58-3036C>G c.644-3036C>G (n.644-3036C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619305C>T | CA7329879 | SERPINA3 | c.754C>T (p.Pro252Ser) c.100C>T (p.Pro34Ser) c.1717C>T n.58-3036C>T c.644-3036C>T (n.644-3036C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619306C>A | CA390855845 | SERPINA3 | c.755C>A (p.Pro252His) c.101C>A (p.Pro34His) c.1718C>A n.58-3035C>A c.644-3035C>A (n.644-3035C>A) | |
14 | g.94619306C>G | CA390855846 | SERPINA3 | c.755C>G (p.Pro252Arg) c.101C>G (p.Pro34Arg) c.1718C>G n.58-3035C>G c.644-3035C>G (n.644-3035C>G) | |
14 | g.94619306C>T | CA390855847 | SERPINA3 | c.755C>T (p.Pro252Leu) c.101C>T (p.Pro34Leu) c.1718C>T n.58-3035C>T c.644-3035C>T (n.644-3035C>T) | gnomAD v4 |
14 | g.94619307T>A | CA487625222 | SERPINA3 | c.756T>A (p.Pro252=) c.102T>A (p.Pro34=) c.1719T>A n.58-3034T>A c.644-3034T>A (n.644-3034T>A) | |
14 | g.94619307T>C | CA487625223 | SERPINA3 | c.756T>C (p.Pro252=) c.102T>C (p.Pro34=) c.1719T>C n.58-3034T>C c.644-3034T>C (n.644-3034T>C) | |
14 | g.94619307T>G | CA487625224 | SERPINA3 | c.756T>G (p.Pro252=) c.102T>G (p.Pro34=) c.1719T>G n.58-3034T>G c.644-3034T>G (n.644-3034T>G) | |
14 | g.94619308del | CA2575615679 | SERPINA3 | c.757del (p.Tyr253ThrfsTer14) c.103del (p.Tyr35ThrfsTer14) c.1720del n.58-3033del c.644-3033del (n.644-3033del) | |
14 | g.94619308T>A | CA390855848 | SERPINA3 | c.757T>A (p.Tyr253Asn) c.103T>A (p.Tyr35Asn) c.1720T>A n.58-3033T>A c.644-3033T>A (n.644-3033T>A) | |
14 | g.94619308T>C | CA390855849 | SERPINA3 | c.757T>C (p.Tyr253His) c.103T>C (p.Tyr35His) c.1720T>C n.58-3033T>C c.644-3033T>C (n.644-3033T>C) | gnomAD v4 |
14 | g.94619308T>G | CA390855850 | SERPINA3 | c.757T>G (p.Tyr253Asp) c.103T>G (p.Tyr35Asp) c.1720T>G n.58-3033T>G c.644-3033T>G (n.644-3033T>G) | ClinVar gnomAD v4 |
14 | g.94619309A>C | CA390855851 | SERPINA3 | c.758A>C (p.Tyr253Ser) c.104A>C (p.Tyr35Ser) c.1721A>C n.58-3032A>C c.644-3032A>C (n.644-3032A>C) | |
14 | g.94619309A>G | CA390855852 | SERPINA3 | c.758A>G (p.Tyr253Cys) c.104A>G (p.Tyr35Cys) c.1721A>G n.58-3032A>G c.644-3032A>G (n.644-3032A>G) | |
14 | g.94619309A>T | CA390855853 | SERPINA3 | c.758A>T (p.Tyr253Phe) c.104A>T (p.Tyr35Phe) c.1721A>T n.58-3032A>T c.644-3032A>T (n.644-3032A>T) | |
14 | g.94619310C>A | CA390855854 | SERPINA3 | c.759C>A (p.Tyr253Ter) c.105C>A (p.Tyr35Ter) c.1722C>A n.58-3031C>A c.644-3031C>A (n.644-3031C>A) | |
14 | g.94619310C>G | CA390855855 | SERPINA3 | c.759C>G (p.Tyr253Ter) c.105C>G (p.Tyr35Ter) c.1722C>G n.58-3031C>G c.644-3031C>G (n.644-3031C>G) | |
14 | g.94619310C>T | CA487625225 | SERPINA3 | c.759C>T (p.Tyr253=) c.105C>T (p.Tyr35=) c.1722C>T n.58-3031C>T c.644-3031C>T (n.644-3031C>T) | |
14 | g.94619311T>A | CA390855856 | SERPINA3 | c.760T>A (p.Phe254Ile) c.106T>A (p.Phe36Ile) c.1723T>A n.58-3030T>A c.644-3030T>A (n.644-3030T>A) | |
14 | g.94619311T>C | CA390855857 | SERPINA3 | c.760T>C (p.Phe254Leu) c.106T>C (p.Phe36Leu) c.1723T>C n.58-3030T>C c.644-3030T>C (n.644-3030T>C) | gnomAD v4 |
14 | g.94619311T>G | CA265884968 | SERPINA3 | c.760T>G (p.Phe254Val) c.106T>G (p.Phe36Val) c.1723T>G n.58-3030T>G c.644-3030T>G (n.644-3030T>G) | dbSNP gnomAD v4 |
14 | g.94619311T= | CA2156074087 | SERPINA3 | c.760T= (p.Phe254=) c.106T= (p.Phe36=) c.1723T= n.58-3030T= c.644-3030T= (n.644-3030T=) | |
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) |