| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23354905C>A | CA387547093 | SACS | c.1707G>T (p.Trp569Cys) n.1845G>T c.1698G>T (p.Trp566Cys) n.4064G>T c.-544G>T (n.-544G>T) c.579G>T (p.Trp193Cys) c.1405G>T c.1266G>T (p.Trp422Cys) c.1731G>T (p.Trp577Cys) | |
| 13 | g.23354905C= | CA2078657983 | SACS | c.1707G= (p.Trp569=) n.1845G= c.1698G= (p.Trp566=) n.4064G= c.-544G= (n.-544G=) c.579G= (p.Trp193=) c.1405G= c.1266G= (p.Trp422=) c.1731G= (p.Trp577=) | |
| 13 | g.23354905C>G | CA387547094 | SACS | c.1707G>C (p.Trp569Cys) n.1845G>C c.1698G>C (p.Trp566Cys) n.4064G>C c.-544G>C (n.-544G>C) c.579G>C (p.Trp193Cys) c.1405G>C c.1266G>C (p.Trp422Cys) c.1731G>C (p.Trp577Cys) | |
| 13 | g.23354905C>T | CA387547096 | SACS | c.1707G>A (p.Trp569Ter) n.1845G>A c.1698G>A (p.Trp566Ter) n.4064G>A c.-544G>A (n.-544G>A) c.579G>A (p.Trp193Ter) c.1405G>A c.1266G>A (p.Trp422Ter) c.1731G>A (p.Trp577Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23354906C>A | CA387547102 | SACS | c.1706G>T (p.Trp569Leu) n.1844G>T c.1697G>T (p.Trp566Leu) n.4063G>T c.-545G>T (n.-545G>T) c.578G>T (p.Trp193Leu) c.1404G>T c.1265G>T (p.Trp422Leu) c.1730G>T (p.Trp577Leu) | dbSNP |
| 13 | g.23354906C= | CA2078657984 | SACS | c.1706G= (p.Trp569=) n.1844G= c.1697G= (p.Trp566=) n.4063G= c.-545G= (n.-545G=) c.578G= (p.Trp193=) c.1404G= c.1265G= (p.Trp422=) c.1730G= (p.Trp577=) | |
| 13 | g.23354906C>G | CA387547100 | SACS | c.1706G>C (p.Trp569Ser) n.1844G>C c.1697G>C (p.Trp566Ser) n.4063G>C c.-545G>C (n.-545G>C) c.578G>C (p.Trp193Ser) c.1404G>C c.1265G>C (p.Trp422Ser) c.1730G>C (p.Trp577Ser) | |
| 13 | g.23354906C>T | CA387547101 | SACS | c.1706G>A (p.Trp569Ter) n.1844G>A c.1697G>A (p.Trp566Ter) n.4063G>A c.-545G>A (n.-545G>A) c.578G>A (p.Trp193Ter) c.1404G>A c.1265G>A (p.Trp422Ter) c.1730G>A (p.Trp577Ter) | ClinVar dbSNP |
| 13 | g.23354906_23354907del | CA2573149127 | SACS | c.1705_1706del (p.Trp569GlyfsTer12) n.1843_1844del c.1696_1697del (p.Trp566GlyfsTer12) n.4062_4063del c.-546_-545del (n.-546_-545del) c.577_578del (p.Trp193GlyfsTer12) c.1403_1404del c.1264_1265del (p.Trp422GlyfsTer12) c.1729_1730del (p.Trp577GlyfsTer12) | ClinVar dbSNP |
| 13 | g.23354907A>C | CA387547106 | SACS | c.1705T>G (p.Trp569Gly) n.1843T>G c.1696T>G (p.Trp566Gly) n.4062T>G c.-546T>G (n.-546T>G) c.577T>G (p.Trp193Gly) c.1403T>G c.1264T>G (p.Trp422Gly) c.1729T>G (p.Trp577Gly) | |
| 13 | g.23354907A>G | CA387547108 | SACS | c.1705T>C (p.Trp569Arg) n.1843T>C c.1696T>C (p.Trp566Arg) n.4062T>C c.-546T>C (n.-546T>C) c.577T>C (p.Trp193Arg) c.1403T>C c.1264T>C (p.Trp422Arg) c.1729T>C (p.Trp577Arg) | |
| 13 | g.23354907A>T | CA387547110 | SACS | c.1705T>A (p.Trp569Arg) n.1843T>A c.1696T>A (p.Trp566Arg) n.4062T>A c.-546T>A (n.-546T>A) c.577T>A (p.Trp193Arg) c.1403T>A c.1264T>A (p.Trp422Arg) c.1729T>A (p.Trp577Arg) | |
| 13 | g.23354908G>A | CA483164584 | SACS | c.1704C>T (p.Asp568=) n.1842C>T c.1695C>T (p.Asp565=) n.4061C>T c.-547C>T (n.-547C>T) c.576C>T (p.Asp192=) c.1402C>T c.1263C>T (p.Asp421=) c.1728C>T (p.Asp576=) | gnomAD v4 |
| 13 | g.23354908G>C | CA387547111 | SACS | c.1704C>G (p.Asp568Glu) n.1842C>G c.1695C>G (p.Asp565Glu) n.4061C>G c.-547C>G (n.-547C>G) c.576C>G (p.Asp192Glu) c.1402C>G c.1263C>G (p.Asp421Glu) c.1728C>G (p.Asp576Glu) | |
| 13 | g.23354908G>T | CA387547113 | SACS | c.1704C>A (p.Asp568Glu) n.1842C>A c.1695C>A (p.Asp565Glu) n.4061C>A c.-547C>A (n.-547C>A) c.576C>A (p.Asp192Glu) c.1402C>A c.1263C>A (p.Asp421Glu) c.1728C>A (p.Asp576Glu) | |
| 13 | g.23354909T>A | CA387547119 | SACS | c.1703A>T (p.Asp568Val) n.1841A>T c.1694A>T (p.Asp565Val) n.4060A>T c.-548A>T (n.-548A>T) c.575A>T (p.Asp192Val) c.1401A>T c.1262A>T (p.Asp421Val) c.1727A>T (p.Asp576Val) | |
| 13 | g.23354909T>C | CA387547115 | SACS | c.1703A>G (p.Asp568Gly) n.1841A>G c.1694A>G (p.Asp565Gly) n.4060A>G c.-548A>G (n.-548A>G) c.575A>G (p.Asp192Gly) c.1401A>G c.1262A>G (p.Asp421Gly) c.1727A>G (p.Asp576Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23354909T>G | CA387547117 | SACS | c.1703A>C (p.Asp568Ala) n.1841A>C c.1694A>C (p.Asp565Ala) n.4060A>C c.-548A>C (n.-548A>C) c.575A>C (p.Asp192Ala) c.1401A>C c.1262A>C (p.Asp421Ala) c.1727A>C (p.Asp576Ala) | |
| 13 | g.23354909T= | CA2078657985 | SACS | c.1703A= (p.Asp568=) n.1841A= c.1694A= (p.Asp565=) n.4060A= c.-548A= (n.-548A=) c.575A= (p.Asp192=) c.1401A= c.1262A= (p.Asp421=) c.1727A= (p.Asp576=) | |
| 13 | g.23354910C>A | CA387547121 | SACS | c.1702G>T (p.Asp568Tyr) n.1840G>T c.1693G>T (p.Asp565Tyr) n.4059G>T c.-549G>T (n.-549G>T) c.574G>T (p.Asp192Tyr) c.1400G>T c.1261G>T (p.Asp421Tyr) c.1726G>T (p.Asp576Tyr) | COSMIC COSMIC |
| 13 | g.23354910C= | CA2078657986 | SACS | c.1702G= (p.Asp568=) n.1840G= c.1693G= (p.Asp565=) n.4059G= c.-549G= (n.-549G=) c.574G= (p.Asp192=) c.1400G= c.1261G= (p.Asp421=) c.1726G= (p.Asp576=) | |
| 13 | g.23354910C>G | CA387547123 | SACS | c.1702G>C (p.Asp568His) n.1840G>C c.1693G>C (p.Asp565His) n.4059G>C c.-549G>C (n.-549G>C) c.574G>C (p.Asp192His) c.1400G>C c.1261G>C (p.Asp421His) c.1726G>C (p.Asp576His) | |
| 13 | g.23354910C>T | CA6911866 | SACS | c.1702G>A (p.Asp568Asn) n.1840G>A c.1693G>A (p.Asp565Asn) n.4059G>A c.-549G>A (n.-549G>A) c.574G>A (p.Asp192Asn) c.1400G>A c.1261G>A (p.Asp421Asn) c.1726G>A (p.Asp576Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354911A= | CA2078657987 | SACS | c.1701T= (p.Cys567=) n.1839T= c.1692T= (p.Cys564=) n.4058T= c.-550T= (n.-550T=) c.573T= (p.Cys191=) c.1399T= c.1260T= (p.Cys420=) c.1725T= (p.Cys575=) | |
| 13 | g.23354911A>C | CA387547127 | SACS | c.1701T>G (p.Cys567Trp) n.1839T>G c.1692T>G (p.Cys564Trp) n.4058T>G c.-550T>G (n.-550T>G) c.573T>G (p.Cys191Trp) c.1399T>G c.1260T>G (p.Cys420Trp) c.1725T>G (p.Cys575Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354911A>G | CA483164589 | SACS | c.1701T>C (p.Cys567=) n.1839T>C c.1692T>C (p.Cys564=) n.4058T>C c.-550T>C (n.-550T>C) c.573T>C (p.Cys191=) c.1399T>C c.1260T>C (p.Cys420=) c.1725T>C (p.Cys575=) | |
| 13 | g.23354911A>T | CA387547129 | SACS | c.1701T>A (p.Cys567Ter) n.1839T>A c.1692T>A (p.Cys564Ter) n.4058T>A c.-550T>A (n.-550T>A) c.573T>A (p.Cys191Ter) c.1399T>A c.1260T>A (p.Cys420Ter) c.1725T>A (p.Cys575Ter) | |
| 13 | g.23354912C>A | CA387547132 | SACS | c.1700G>T (p.Cys567Phe) n.1838G>T c.1691G>T (p.Cys564Phe) n.4057G>T c.-551G>T (n.-551G>T) c.572G>T (p.Cys191Phe) c.1398G>T c.1259G>T (p.Cys420Phe) c.1724G>T (p.Cys575Phe) | |
| 13 | g.23354912C>G | CA387547133 | SACS | c.1700G>C (p.Cys567Ser) n.1838G>C c.1691G>C (p.Cys564Ser) n.4057G>C c.-551G>C (n.-551G>C) c.572G>C (p.Cys191Ser) c.1398G>C c.1259G>C (p.Cys420Ser) c.1724G>C (p.Cys575Ser) | |
| 13 | g.23354912C>T | CA387547135 | SACS | c.1700G>A (p.Cys567Tyr) n.1838G>A c.1691G>A (p.Cys564Tyr) n.4057G>A c.-551G>A (n.-551G>A) c.572G>A (p.Cys191Tyr) c.1398G>A c.1259G>A (p.Cys420Tyr) c.1724G>A (p.Cys575Tyr) | |
| 13 | g.23354913A>C | CA387547138 | SACS | c.1699T>G (p.Cys567Gly) n.1837T>G c.1690T>G (p.Cys564Gly) n.4056T>G c.-552T>G (n.-552T>G) c.571T>G (p.Cys191Gly) c.1397T>G c.1258T>G (p.Cys420Gly) c.1723T>G (p.Cys575Gly) | |
| 13 | g.23354913A>G | CA387547140 | SACS | c.1699T>C (p.Cys567Arg) n.1837T>C c.1690T>C (p.Cys564Arg) n.4056T>C c.-552T>C (n.-552T>C) c.571T>C (p.Cys191Arg) c.1397T>C c.1258T>C (p.Cys420Arg) c.1723T>C (p.Cys575Arg) | COSMIC COSMIC |
| 13 | g.23354913A>T | CA387547141 | SACS | c.1699T>A (p.Cys567Ser) n.1837T>A c.1690T>A (p.Cys564Ser) n.4056T>A c.-552T>A (n.-552T>A) c.571T>A (p.Cys191Ser) c.1397T>A c.1258T>A (p.Cys420Ser) c.1723T>A (p.Cys575Ser) | |
| 13 | g.23354914G>A | CA483164593 | SACS | c.1698C>T (p.Ser566=) n.1836C>T c.1689C>T (p.Ser563=) n.4055C>T c.-553C>T (n.-553C>T) c.570C>T (p.Ser190=) c.1396C>T c.1257C>T (p.Ser419=) c.1722C>T (p.Ser574=) | |
| 13 | g.23354914G>C | CA387547144 | SACS | c.1698C>G (p.Ser566Arg) n.1836C>G c.1689C>G (p.Ser563Arg) n.4055C>G c.-553C>G (n.-553C>G) c.570C>G (p.Ser190Arg) c.1396C>G c.1257C>G (p.Ser419Arg) c.1722C>G (p.Ser574Arg) | |
| 13 | g.23354914G>T | CA387547146 | SACS | c.1698C>A (p.Ser566Arg) n.1836C>A c.1689C>A (p.Ser563Arg) n.4055C>A c.-553C>A (n.-553C>A) c.570C>A (p.Ser190Arg) c.1396C>A c.1257C>A (p.Ser419Arg) c.1722C>A (p.Ser574Arg) | |
| 13 | g.23354915C>A | CA387547156 | SACS | c.1697G>T (p.Ser566Ile) n.1835G>T c.1688G>T (p.Ser563Ile) n.4054G>T c.-554G>T (n.-554G>T) c.569G>T (p.Ser190Ile) c.1395G>T c.1256G>T (p.Ser419Ile) c.1721G>T (p.Ser574Ile) | |
| 13 | g.23354915C>G | CA387547148 | SACS | c.1697G>C (p.Ser566Thr) n.1835G>C c.1688G>C (p.Ser563Thr) n.4054G>C c.-554G>C (n.-554G>C) c.569G>C (p.Ser190Thr) c.1395G>C c.1256G>C (p.Ser419Thr) c.1721G>C (p.Ser574Thr) | |
| 13 | g.23354915C>T | CA387547154 | SACS | c.1697G>A (p.Ser566Asn) n.1835G>A c.1688G>A (p.Ser563Asn) n.4054G>A c.-554G>A (n.-554G>A) c.569G>A (p.Ser190Asn) c.1395G>A c.1256G>A (p.Ser419Asn) c.1721G>A (p.Ser574Asn) | |
| 13 | g.23354916T>A | CA387547159 | SACS | c.1696A>T (p.Ser566Cys) n.1834A>T c.1687A>T (p.Ser563Cys) n.4053A>T c.-555A>T (n.-555A>T) c.568A>T (p.Ser190Cys) c.1394A>T c.1255A>T (p.Ser419Cys) c.1720A>T (p.Ser574Cys) | |
| 13 | g.23354916T>C | CA387547161 | SACS | c.1696A>G (p.Ser566Gly) n.1834A>G c.1687A>G (p.Ser563Gly) n.4053A>G c.-555A>G (n.-555A>G) c.568A>G (p.Ser190Gly) c.1394A>G c.1255A>G (p.Ser419Gly) c.1720A>G (p.Ser574Gly) | |
| 13 | g.23354916T>G | CA387547162 | SACS | c.1696A>C (p.Ser566Arg) n.1834A>C c.1687A>C (p.Ser563Arg) n.4053A>C c.-555A>C (n.-555A>C) c.568A>C (p.Ser190Arg) c.1394A>C c.1255A>C (p.Ser419Arg) c.1720A>C (p.Ser574Arg) | |
| 13 | g.23354917A>C | CA387547165 | SACS | c.1695T>G (p.Ile565Met) n.1833T>G c.1686T>G (p.Ile562Met) n.4052T>G c.-556T>G (n.-556T>G) c.567T>G (p.Ile189Met) c.1393T>G c.1254T>G (p.Ile418Met) c.1719T>G (p.Ile573Met) | |
| 13 | g.23354917A>G | CA483164599 | SACS | c.1695T>C (p.Ile565=) n.1833T>C c.1686T>C (p.Ile562=) n.4052T>C c.-556T>C (n.-556T>C) c.567T>C (p.Ile189=) c.1393T>C c.1254T>C (p.Ile418=) c.1719T>C (p.Ile573=) | |
| 13 | g.23354917A>T | CA483164601 | SACS | c.1695T>A (p.Ile565=) n.1833T>A c.1686T>A (p.Ile562=) n.4052T>A c.-556T>A (n.-556T>A) c.567T>A (p.Ile189=) c.1393T>A c.1254T>A (p.Ile418=) c.1719T>A (p.Ile573=) | |
| 13 | g.23354918A>C | CA387547168 | SACS | c.1694T>G (p.Ile565Ser) n.1832T>G c.1685T>G (p.Ile562Ser) n.4051T>G c.-557T>G (n.-557T>G) c.566T>G (p.Ile189Ser) c.1392T>G c.1253T>G (p.Ile418Ser) c.1718T>G (p.Ile573Ser) | |
| 13 | g.23354918A>G | CA387547170 | SACS | c.1694T>C (p.Ile565Thr) n.1832T>C c.1685T>C (p.Ile562Thr) n.4051T>C c.-557T>C (n.-557T>C) c.566T>C (p.Ile189Thr) c.1392T>C c.1253T>C (p.Ile418Thr) c.1718T>C (p.Ile573Thr) | |
| 13 | g.23354918A>T | CA387547172 | SACS | c.1694T>A (p.Ile565Asn) n.1832T>A c.1685T>A (p.Ile562Asn) n.4051T>A c.-557T>A (n.-557T>A) c.566T>A (p.Ile189Asn) c.1392T>A c.1253T>A (p.Ile418Asn) c.1718T>A (p.Ile573Asn) | |
| 13 | g.23354919T>A | CA387547174 | SACS | c.1693A>T (p.Ile565Phe) n.1831A>T c.1684A>T (p.Ile562Phe) n.4050A>T c.-558A>T (n.-558A>T) c.565A>T (p.Ile189Phe) c.1391A>T c.1252A>T (p.Ile418Phe) c.1717A>T (p.Ile573Phe) | |
| 13 | g.23354919T>C | CA6911867 | SACS | c.1693A>G (p.Ile565Val) n.1831A>G c.1684A>G (p.Ile562Val) n.4050A>G c.-558A>G (n.-558A>G) c.565A>G (p.Ile189Val) c.1391A>G c.1252A>G (p.Ile418Val) c.1717A>G (p.Ile573Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |