Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.34517412A>C | CA373266880 | DNAI1 | c.1946A>C (p.Asp649Ala) c.329+2673A>C c.734A>C n.522A>C c.1958A>C (p.Asp653Ala) c.1415A>C (p.Asp472Ala) c.1700A>C (p.Asp567Ala) c.1688A>C (p.Asp563Ala) n.2049A>C | |
9 | g.34517412A>G | CA373266882 | DNAI1 | c.1946A>G (p.Asp649Gly) c.329+2673A>G c.734A>G n.522A>G c.1958A>G (p.Asp653Gly) c.1415A>G (p.Asp472Gly) c.1700A>G (p.Asp567Gly) c.1688A>G (p.Asp563Gly) n.2049A>G | |
9 | g.34517412A>T | CA373266883 | DNAI1 | c.1946A>T (p.Asp649Val) c.329+2673A>T c.734A>T n.522A>T c.1958A>T (p.Asp653Val) c.1415A>T (p.Asp472Val) c.1700A>T (p.Asp567Val) c.1688A>T (p.Asp563Val) n.2049A>T | |
9 | g.34517413C>A | CA373266885 | DNAI1 | c.1947C>A (p.Asp649Glu) c.329+2674C>A c.735C>A n.523C>A c.1959C>A (p.Asp653Glu) c.1416C>A (p.Asp472Glu) c.1701C>A (p.Asp567Glu) c.1689C>A (p.Asp563Glu) n.2050C>A | |
9 | g.34517413C>G | CA373266886 | DNAI1 | c.1947C>G (p.Asp649Glu) c.329+2674C>G c.735C>G n.523C>G c.1959C>G (p.Asp653Glu) c.1416C>G (p.Asp472Glu) c.1701C>G (p.Asp567Glu) c.1689C>G (p.Asp563Glu) n.2050C>G | |
9 | g.34517413C>T | CA464398388 | DNAI1 | c.1947C>T (p.Asp649=) c.329+2674C>T c.735C>T n.523C>T c.1959C>T (p.Asp653=) c.1416C>T (p.Asp472=) c.1701C>T (p.Asp567=) c.1689C>T (p.Asp563=) n.2050C>T | |
9 | g.34517414C>A | CA373266890 | DNAI1 | c.1948C>A (p.Arg650Ser) c.329+2675C>A c.736C>A n.524C>A c.1960C>A (p.Arg654Ser) c.1417C>A (p.Arg473Ser) c.1702C>A (p.Arg568Ser) c.1690C>A (p.Arg564Ser) n.2051C>A | |
9 | g.34517414C= | CA1845592127 | DNAI1 | c.1948C= (p.Arg650=) c.329+2675C= c.736C= n.524C= c.1960C= (p.Arg654=) c.1417C= (p.Arg473=) c.1702C= (p.Arg568=) c.1690C= (p.Arg564=) n.2051C= | |
9 | g.34517414C>G | CA373266888 | DNAI1 | c.1948C>G (p.Arg650Gly) c.329+2675C>G c.736C>G n.524C>G c.1960C>G (p.Arg654Gly) c.1417C>G (p.Arg473Gly) c.1702C>G (p.Arg568Gly) c.1690C>G (p.Arg564Gly) n.2051C>G | dbSNP gnomAD v4 |
9 | g.34517414C>T | CA338457 | DNAI1 | c.1948C>T (p.Arg650Cys) c.329+2675C>T c.736C>T n.524C>T c.1960C>T (p.Arg654Cys) c.1417C>T (p.Arg473Cys) c.1702C>T (p.Arg568Cys) c.1690C>T (p.Arg564Cys) n.2051C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.34517415G>A | CA5034587 | DNAI1 | c.1949G>A (p.Arg650His) c.329+2676G>A c.737G>A n.525G>A c.1961G>A (p.Arg654His) c.1418G>A (p.Arg473His) c.1703G>A (p.Arg568His) c.1691G>A (p.Arg564His) n.2052G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.34517415G>C | CA373266892 | DNAI1 | c.1949G>C (p.Arg650Pro) c.329+2676G>C c.737G>C n.525G>C c.1961G>C (p.Arg654Pro) c.1418G>C (p.Arg473Pro) c.1703G>C (p.Arg568Pro) c.1691G>C (p.Arg564Pro) n.2052G>C | |
9 | g.34517415G= | CA1845592144 | DNAI1 | c.1949G= (p.Arg650=) c.329+2676G= c.737G= n.525G= c.1961G= (p.Arg654=) c.1418G= (p.Arg473=) c.1703G= (p.Arg568=) c.1691G= (p.Arg564=) n.2052G= | |
9 | g.34517415G>T | CA373266894 | DNAI1 | c.1949G>T (p.Arg650Leu) c.329+2676G>T c.737G>T n.525G>T c.1961G>T (p.Arg654Leu) c.1418G>T (p.Arg473Leu) c.1703G>T (p.Arg568Leu) c.1691G>T (p.Arg564Leu) n.2052G>T | |
9 | g.34517416T>A | CA464398389 | DNAI1 | c.1950T>A (p.Arg650=) c.329+2677T>A c.738T>A n.526T>A c.1962T>A (p.Arg654=) c.1419T>A (p.Arg473=) c.1704T>A (p.Arg568=) c.1692T>A (p.Arg564=) n.2053T>A | |
9 | g.34517416T>C | CA464398390 | DNAI1 | c.1950T>C (p.Arg650=) c.329+2677T>C c.738T>C n.526T>C c.1962T>C (p.Arg654=) c.1419T>C (p.Arg473=) c.1704T>C (p.Arg568=) c.1692T>C (p.Arg564=) n.2053T>C | dbSNP gnomAD v4 |
9 | g.34517416T>G | CA464398391 | DNAI1 | c.1950T>G (p.Arg650=) c.329+2677T>G c.738T>G n.526T>G c.1962T>G (p.Arg654=) c.1419T>G (p.Arg473=) c.1704T>G (p.Arg568=) c.1692T>G (p.Arg564=) n.2053T>G | |
9 | g.34517416T= | CA1845592154 | DNAI1 | c.1950T= (p.Arg650=) c.329+2677T= c.738T= n.526T= c.1962T= (p.Arg654=) c.1419T= (p.Arg473=) c.1704T= (p.Arg568=) c.1692T= (p.Arg564=) n.2053T= | |
9 | g.34517417G>A | CA373266896 | DNAI1 | c.1951G>A (p.Gly651Arg) c.329+2678G>A c.739G>A n.527G>A c.1963G>A (p.Gly655Arg) c.1420G>A (p.Gly474Arg) c.1705G>A (p.Gly569Arg) c.1693G>A (p.Gly565Arg) n.2054G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517417G>C | CA373266898 | DNAI1 | c.1951G>C (p.Gly651Arg) c.329+2678G>C c.739G>C n.527G>C c.1963G>C (p.Gly655Arg) c.1420G>C (p.Gly474Arg) c.1705G>C (p.Gly569Arg) c.1693G>C (p.Gly565Arg) n.2054G>C | |
9 | g.34517417G= | CA1845592168 | DNAI1 | c.1951G= (p.Gly651=) c.329+2678G= c.739G= n.527G= c.1963G= (p.Gly655=) c.1420G= (p.Gly474=) c.1705G= (p.Gly569=) c.1693G= (p.Gly565=) n.2054G= | |
9 | g.34517417G>T | CA373266900 | DNAI1 | c.1951G>T (p.Gly651Trp) c.329+2678G>T c.739G>T n.527G>T c.1963G>T (p.Gly655Trp) c.1420G>T (p.Gly474Trp) c.1705G>T (p.Gly569Trp) c.1693G>T (p.Gly565Trp) n.2054G>T | |
9 | g.34517418G>A | CA373266901 | DNAI1 | c.1952G>A (p.Gly651Glu) c.329+2679G>A c.740G>A n.528G>A c.1964G>A (p.Gly655Glu) c.1421G>A (p.Gly474Glu) c.1706G>A (p.Gly569Glu) c.1694G>A (p.Gly565Glu) n.2055G>A | |
9 | g.34517418G>C | CA373266902 | DNAI1 | c.1952G>C (p.Gly651Ala) c.329+2679G>C c.740G>C n.528G>C c.1964G>C (p.Gly655Ala) c.1421G>C (p.Gly474Ala) c.1706G>C (p.Gly569Ala) c.1694G>C (p.Gly565Ala) n.2055G>C | gnomAD v4 |
9 | g.34517418G>T | CA373266903 | DNAI1 | c.1952G>T (p.Gly651Val) c.329+2679G>T c.740G>T n.528G>T c.1964G>T (p.Gly655Val) c.1421G>T (p.Gly474Val) c.1706G>T (p.Gly569Val) c.1694G>T (p.Gly565Val) n.2055G>T | |
9 | g.34517419G>A | CA5034588 | DNAI1 | c.1953G>A (p.Gly651=) c.329+2680G>A c.741G>A n.529G>A c.1965G>A (p.Gly655=) c.1422G>A (p.Gly474=) c.1707G>A (p.Gly569=) c.1695G>A (p.Gly565=) n.2056G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517419G>C | CA464398393 | DNAI1 | c.1953G>C (p.Gly651=) c.329+2680G>C c.741G>C n.529G>C c.1965G>C (p.Gly655=) c.1422G>C (p.Gly474=) c.1707G>C (p.Gly569=) c.1695G>C (p.Gly565=) n.2056G>C | |
9 | g.34517419G= | CA1845592173 | DNAI1 | c.1953G= (p.Gly651=) c.329+2680G= c.741G= n.529G= c.1965G= (p.Gly655=) c.1422G= (p.Gly474=) c.1707G= (p.Gly569=) c.1695G= (p.Gly565=) n.2056G= | |
9 | g.34517419G>T | CA464398392 | DNAI1 | c.1953G>T (p.Gly651=) c.329+2680G>T c.741G>T n.529G>T c.1965G>T (p.Gly655=) c.1422G>T (p.Gly474=) c.1707G>T (p.Gly569=) c.1695G>T (p.Gly565=) n.2056G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.34517420C>A | CA373266906 | DNAI1 | c.1954C>A (p.His652Asn) c.329+2681C>A c.742C>A n.530C>A c.1966C>A (p.His656Asn) c.1423C>A (p.His475Asn) c.1708C>A (p.His570Asn) c.1696C>A (p.His566Asn) n.2057C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517420C= | CA1845592178 | DNAI1 | c.1954C= (p.His652=) c.329+2681C= c.742C= n.530C= c.1966C= (p.His656=) c.1423C= (p.His475=) c.1708C= (p.His570=) c.1696C= (p.His566=) n.2057C= | |
9 | g.34517420C>G | CA373266908 | DNAI1 | c.1954C>G (p.His652Asp) c.329+2681C>G c.742C>G n.530C>G c.1966C>G (p.His656Asp) c.1423C>G (p.His475Asp) c.1708C>G (p.His570Asp) c.1696C>G (p.His566Asp) n.2057C>G | |
9 | g.34517420C>T | CA373266910 | DNAI1 | c.1954C>T (p.His652Tyr) c.329+2681C>T c.742C>T n.530C>T c.1966C>T (p.His656Tyr) c.1423C>T (p.His475Tyr) c.1708C>T (p.His570Tyr) c.1696C>T (p.His566Tyr) n.2057C>T | |
9 | g.34517421A>C | CA373266916 | DNAI1 | c.1955A>C (p.His652Pro) c.329+2682A>C c.743A>C n.531A>C c.1967A>C (p.His656Pro) c.1424A>C (p.His475Pro) c.1709A>C (p.His570Pro) c.1697A>C (p.His566Pro) n.2058A>C | |
9 | g.34517421A>G | CA373266912 | DNAI1 | c.1955A>G (p.His652Arg) c.329+2682A>G c.743A>G n.531A>G c.1967A>G (p.His656Arg) c.1424A>G (p.His475Arg) c.1709A>G (p.His570Arg) c.1697A>G (p.His566Arg) n.2058A>G | |
9 | g.34517421A>T | CA373266914 | DNAI1 | c.1955A>T (p.His652Leu) c.329+2682A>T c.743A>T n.531A>T c.1967A>T (p.His656Leu) c.1424A>T (p.His475Leu) c.1709A>T (p.His570Leu) c.1697A>T (p.His566Leu) n.2058A>T | |
9 | g.34517422C>A | CA5034589 | DNAI1 | c.1956C>A (p.His652Gln) c.329+2683C>A c.744C>A n.532C>A c.1968C>A (p.His656Gln) c.1425C>A (p.His475Gln) c.1710C>A (p.His570Gln) c.1698C>A (p.His566Gln) n.2059C>A | dbSNP ExAC gnomAD v2 |
9 | g.34517422C= | CA1845592182 | DNAI1 | c.1956C= (p.His652=) c.329+2683C= c.744C= n.532C= c.1968C= (p.His656=) c.1425C= (p.His475=) c.1710C= (p.His570=) c.1698C= (p.His566=) n.2059C= | |
9 | g.34517422C>G | CA373266918 | DNAI1 | c.1956C>G (p.His652Gln) c.329+2683C>G c.744C>G n.532C>G c.1968C>G (p.His656Gln) c.1425C>G (p.His475Gln) c.1710C>G (p.His570Gln) c.1698C>G (p.His566Gln) n.2059C>G | |
9 | g.34517422C>T | CA192653702 | DNAI1 | c.1956C>T (p.His652=) c.329+2683C>T c.744C>T n.532C>T c.1968C>T (p.His656=) c.1425C>T (p.His475=) c.1710C>T (p.His570=) c.1698C>T (p.His566=) n.2059C>T | dbSNP |
9 | g.34517427_34517429del | CA2689798676 | DNAI1 | c.1961_1963del (p.Ile654del) c.329+2688_329+2690del c.749_751del n.537_539del c.1973_1975del (p.Ile658del) c.1430_1432del (p.Ile477del) c.1715_1717del (p.Ile572del) c.1703_1705del (p.Ile568del) n.2064_2066del | gnomAD v4 |
9 | g.34517423A>C | CA373266920 | DNAI1 | c.1957A>C (p.Ile653Leu) c.329+2684A>C c.745A>C n.533A>C c.1969A>C (p.Ile657Leu) c.1426A>C (p.Ile476Leu) c.1711A>C (p.Ile571Leu) c.1699A>C (p.Ile567Leu) n.2060A>C | |
9 | g.34517423A>G | CA373266922 | DNAI1 | c.1957A>G (p.Ile653Val) c.329+2684A>G c.745A>G n.533A>G c.1969A>G (p.Ile657Val) c.1426A>G (p.Ile476Val) c.1711A>G (p.Ile571Val) c.1699A>G (p.Ile567Val) n.2060A>G | |
9 | g.34517423A>T | CA373266925 | DNAI1 | c.1957A>T (p.Ile653Phe) c.329+2684A>T c.745A>T n.533A>T c.1969A>T (p.Ile657Phe) c.1426A>T (p.Ile476Phe) c.1711A>T (p.Ile571Phe) c.1699A>T (p.Ile567Phe) n.2060A>T | |
9 | g.34517424T>A | CA373266926 | DNAI1 | c.1958T>A (p.Ile653Asn) c.329+2685T>A c.746T>A n.534T>A c.1970T>A (p.Ile657Asn) c.1427T>A (p.Ile476Asn) c.1712T>A (p.Ile571Asn) c.1700T>A (p.Ile567Asn) n.2061T>A | |
9 | g.34517424T>C | CA373266928 | DNAI1 | c.1958T>C (p.Ile653Thr) c.329+2685T>C c.746T>C n.534T>C c.1970T>C (p.Ile657Thr) c.1427T>C (p.Ile476Thr) c.1712T>C (p.Ile571Thr) c.1700T>C (p.Ile567Thr) n.2061T>C | gnomAD v4 |
9 | g.34517424T>G | CA373266931 | DNAI1 | c.1958T>G (p.Ile653Ser) c.329+2685T>G c.746T>G n.534T>G c.1970T>G (p.Ile657Ser) c.1427T>G (p.Ile476Ser) c.1712T>G (p.Ile571Ser) c.1700T>G (p.Ile567Ser) n.2061T>G | |
9 | g.34517425C>A | CA464398394 | DNAI1 | c.1959C>A (p.Ile653=) c.329+2686C>A c.747C>A n.535C>A c.1971C>A (p.Ile657=) c.1428C>A (p.Ile476=) c.1713C>A (p.Ile571=) c.1701C>A (p.Ile567=) n.2062C>A | |
9 | g.34517425C>G | CA373266932 | DNAI1 | c.1959C>G (p.Ile653Met) c.329+2686C>G c.747C>G n.535C>G c.1971C>G (p.Ile657Met) c.1428C>G (p.Ile476Met) c.1713C>G (p.Ile571Met) c.1701C>G (p.Ile567Met) n.2062C>G | |
9 | g.34517425C>T | CA464398395 | DNAI1 | c.1959C>T (p.Ile653=) c.329+2686C>T c.747C>T n.535C>T c.1971C>T (p.Ile657=) c.1428C>T (p.Ile476=) c.1713C>T (p.Ile571=) c.1701C>T (p.Ile567=) n.2062C>T | |
9 | g.34517426A= | CA1845592187 | DNAI1 | c.1960A= (p.Ile654=) c.329+2687A= c.748A= n.536A= c.1972A= (p.Ile658=) c.1429A= (p.Ile477=) c.1714A= (p.Ile572=) c.1702A= (p.Ile568=) n.2063A= | |
9 | g.34517426A>C | CA373266934 | DNAI1 | c.1960A>C (p.Ile654Leu) c.329+2687A>C c.748A>C n.536A>C c.1972A>C (p.Ile658Leu) c.1429A>C (p.Ile477Leu) c.1714A>C (p.Ile572Leu) c.1702A>C (p.Ile568Leu) n.2063A>C | |
9 | g.34517426A>G | CA373266936 | DNAI1 | c.1960A>G (p.Ile654Val) c.329+2687A>G c.748A>G n.536A>G c.1972A>G (p.Ile658Val) c.1429A>G (p.Ile477Val) c.1714A>G (p.Ile572Val) c.1702A>G (p.Ile568Val) n.2063A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517426A>T | CA373266938 | DNAI1 | c.1960A>T (p.Ile654Phe) c.329+2687A>T c.748A>T n.536A>T c.1972A>T (p.Ile658Phe) c.1429A>T (p.Ile477Phe) c.1714A>T (p.Ile572Phe) c.1702A>T (p.Ile568Phe) n.2063A>T | |
9 | g.34517427T>A | CA373266942 | DNAI1 | c.1961T>A (p.Ile654Asn) c.329+2688T>A c.749T>A n.537T>A c.1973T>A (p.Ile658Asn) c.1430T>A (p.Ile477Asn) c.1715T>A (p.Ile572Asn) c.1703T>A (p.Ile568Asn) n.2064T>A | |
9 | g.34517427T>C | CA373266944 | DNAI1 | c.1961T>C (p.Ile654Thr) c.329+2688T>C c.749T>C n.537T>C c.1973T>C (p.Ile658Thr) c.1430T>C (p.Ile477Thr) c.1715T>C (p.Ile572Thr) c.1703T>C (p.Ile568Thr) n.2064T>C | gnomAD v4 |
9 | g.34517427T>G | CA373266941 | DNAI1 | c.1961T>G (p.Ile654Ser) c.329+2688T>G c.749T>G n.537T>G c.1973T>G (p.Ile658Ser) c.1430T>G (p.Ile477Ser) c.1715T>G (p.Ile572Ser) c.1703T>G (p.Ile568Ser) n.2064T>G | |
9 | g.34517428C>A | CA464398397 | DNAI1 | c.1962C>A (p.Ile654=) c.329+2689C>A c.750C>A n.538C>A c.1974C>A (p.Ile658=) c.1431C>A (p.Ile477=) c.1716C>A (p.Ile572=) c.1704C>A (p.Ile568=) n.2065C>A | ClinVar dbSNP |
9 | g.34517428C= | CA1845592191 | DNAI1 | c.1962C= (p.Ile654=) c.329+2689C= c.750C= n.538C= c.1974C= (p.Ile658=) c.1431C= (p.Ile477=) c.1716C= (p.Ile572=) c.1704C= (p.Ile568=) n.2065C= | |
9 | g.34517428C>G | CA373266946 | DNAI1 | c.1962C>G (p.Ile654Met) c.329+2689C>G c.750C>G n.538C>G c.1974C>G (p.Ile658Met) c.1431C>G (p.Ile477Met) c.1716C>G (p.Ile572Met) c.1704C>G (p.Ile568Met) n.2065C>G | |
9 | g.34517428C>T | CA464398396 | DNAI1 | c.1962C>T (p.Ile654=) c.329+2689C>T c.750C>T n.538C>T c.1974C>T (p.Ile658=) c.1431C>T (p.Ile477=) c.1716C>T (p.Ile572=) c.1704C>T (p.Ile568=) n.2065C>T | ClinVar gnomAD v4 |
9 | g.34517429A= | CA1845592200 | DNAI1 | c.1963A= (p.Ser655=) c.329+2690A= c.751A= n.539A= c.1975A= (p.Ser659=) c.1432A= (p.Ser478=) c.1717A= (p.Ser573=) c.1705A= (p.Ser569=) n.2066A= | |
9 | g.34517429A>C | CA373266948 | DNAI1 | c.1963A>C (p.Ser655Arg) c.329+2690A>C c.751A>C n.539A>C c.1975A>C (p.Ser659Arg) c.1432A>C (p.Ser478Arg) c.1717A>C (p.Ser573Arg) c.1705A>C (p.Ser569Arg) n.2066A>C | |
9 | g.34517429A>G | CA192653703 | DNAI1 | c.1963A>G (p.Ser655Gly) c.329+2690A>G c.751A>G n.539A>G c.1975A>G (p.Ser659Gly) c.1432A>G (p.Ser478Gly) c.1717A>G (p.Ser573Gly) c.1705A>G (p.Ser569Gly) n.2066A>G | dbSNP gnomAD v4 |
9 | g.34517429A>T | CA373266950 | DNAI1 | c.1963A>T (p.Ser655Cys) c.329+2690A>T c.751A>T n.539A>T c.1975A>T (p.Ser659Cys) c.1432A>T (p.Ser478Cys) c.1717A>T (p.Ser573Cys) c.1705A>T (p.Ser569Cys) n.2066A>T | |
9 | g.34517430G>A | CA373266953 | DNAI1 | c.1964G>A (p.Ser655Asn) c.329+2691G>A c.752G>A n.540G>A c.1976G>A (p.Ser659Asn) c.1433G>A (p.Ser478Asn) c.1718G>A (p.Ser573Asn) c.1706G>A (p.Ser569Asn) n.2067G>A | |
9 | g.34517430G>C | CA373266957 | DNAI1 | c.1964G>C (p.Ser655Thr) c.329+2691G>C c.752G>C n.540G>C c.1976G>C (p.Ser659Thr) c.1433G>C (p.Ser478Thr) c.1718G>C (p.Ser573Thr) c.1706G>C (p.Ser569Thr) n.2067G>C | |
9 | g.34517430G>T | CA373266955 | DNAI1 | c.1964G>T (p.Ser655Ile) c.329+2691G>T c.752G>T n.540G>T c.1976G>T (p.Ser659Ile) c.1433G>T (p.Ser478Ile) c.1718G>T (p.Ser573Ile) c.1706G>T (p.Ser569Ile) n.2067G>T | |
9 | g.34517431C>A | CA373266959 | DNAI1 | c.1965C>A (p.Ser655Arg) c.329+2692C>A c.753C>A n.541C>A c.1977C>A (p.Ser659Arg) c.1434C>A (p.Ser478Arg) c.1719C>A (p.Ser573Arg) c.1707C>A (p.Ser569Arg) n.2068C>A | |
9 | g.34517431C>G | CA373266961 | DNAI1 | c.1965C>G (p.Ser655Arg) c.329+2692C>G c.753C>G n.541C>G c.1977C>G (p.Ser659Arg) c.1434C>G (p.Ser478Arg) c.1719C>G (p.Ser573Arg) c.1707C>G (p.Ser569Arg) n.2068C>G | |
9 | g.34517431C>T | CA464398398 | DNAI1 | c.1965C>T (p.Ser655=) c.329+2692C>T c.753C>T n.541C>T c.1977C>T (p.Ser659=) c.1434C>T (p.Ser478=) c.1719C>T (p.Ser573=) c.1707C>T (p.Ser569=) n.2068C>T | |
9 | g.34517432C>A | CA373266962 | DNAI1 | c.1966C>A (p.Leu656Ile) c.329+2693C>A c.754C>A n.542C>A c.1978C>A (p.Leu660Ile) c.1435C>A (p.Leu479Ile) c.1720C>A (p.Leu574Ile) c.1708C>A (p.Leu570Ile) n.2069C>A | |
9 | g.34517432C>G | CA373266963 | DNAI1 | c.1966C>G (p.Leu656Val) c.329+2693C>G c.754C>G n.542C>G c.1978C>G (p.Leu660Val) c.1435C>G (p.Leu479Val) c.1720C>G (p.Leu574Val) c.1708C>G (p.Leu570Val) n.2069C>G | |
9 | g.34517432C>T | CA373266964 | DNAI1 | c.1966C>T (p.Leu656Phe) c.329+2693C>T c.754C>T n.542C>T c.1978C>T (p.Leu660Phe) c.1435C>T (p.Leu479Phe) c.1720C>T (p.Leu574Phe) c.1708C>T (p.Leu570Phe) n.2069C>T | |
9 | g.34517433T>A | CA373266967 | DNAI1 | c.1967T>A (p.Leu656His) c.329+2694T>A c.755T>A n.543T>A c.1979T>A (p.Leu660His) c.1436T>A (p.Leu479His) c.1721T>A (p.Leu574His) c.1709T>A (p.Leu570His) n.2070T>A | |
9 | g.34517433T>C | CA373266968 | DNAI1 | c.1967T>C (p.Leu656Pro) c.329+2694T>C c.755T>C n.543T>C c.1979T>C (p.Leu660Pro) c.1436T>C (p.Leu479Pro) c.1721T>C (p.Leu574Pro) c.1709T>C (p.Leu570Pro) n.2070T>C | |
9 | g.34517433T>G | CA373266970 | DNAI1 | c.1967T>G (p.Leu656Arg) c.329+2694T>G c.755T>G n.543T>G c.1979T>G (p.Leu660Arg) c.1436T>G (p.Leu479Arg) c.1721T>G (p.Leu574Arg) c.1709T>G (p.Leu570Arg) n.2070T>G | |
9 | g.34517433T= | CA1845592208 | DNAI1 | c.1967T= (p.Leu656=) c.329+2694T= c.755T= n.543T= c.1979T= (p.Leu660=) c.1436T= (p.Leu479=) c.1721T= (p.Leu574=) c.1709T= (p.Leu570=) n.2070T= | |
9 | g.34517434C>A | CA464398399 | DNAI1 | c.1968C>A (p.Leu656=) c.329+2695C>A c.756C>A n.544C>A c.1980C>A (p.Leu660=) c.1437C>A (p.Leu479=) c.1722C>A (p.Leu574=) c.1710C>A (p.Leu570=) n.2071C>A | |
9 | g.34517434C= | CA1845592227 | DNAI1 | c.1968C= (p.Leu656=) c.329+2695C= c.756C= n.544C= c.1980C= (p.Leu660=) c.1437C= (p.Leu479=) c.1722C= (p.Leu574=) c.1710C= (p.Leu570=) n.2071C= | |
9 | g.34517434C>G | CA464398400 | DNAI1 | c.1968C>G (p.Leu656=) c.329+2695C>G c.756C>G n.544C>G c.1980C>G (p.Leu660=) c.1437C>G (p.Leu479=) c.1722C>G (p.Leu574=) c.1710C>G (p.Leu570=) n.2071C>G | |
9 | g.34517434C>T | CA5034591 | DNAI1 | c.1968C>T (p.Leu656=) c.329+2695C>T c.756C>T n.544C>T c.1980C>T (p.Leu660=) c.1437C>T (p.Leu479=) c.1722C>T (p.Leu574=) c.1710C>T (p.Leu570=) n.2071C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.34517434_34517447dup | CA5034590 | DNAI1 | c.1968_1981dup (p.Asn661ThrfsTer34) c.329+2695_329+2708dup c.756_769dup n.544_557dup c.1980_1993dup (p.Asn665ThrfsTer34) c.1437_1450dup (p.Asn484ThrfsTer34) c.1722_1735dup (p.Asn579ThrfsTer34) c.1710_1723dup (p.Asn575ThrfsTer34) n.2071_2084dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.34517435A>C | CA373266975 | DNAI1 | c.1969A>C (p.Lys657Gln) c.329+2696A>C c.757A>C n.545A>C c.1981A>C (p.Lys661Gln) c.1438A>C (p.Lys480Gln) c.1723A>C (p.Lys575Gln) c.1711A>C (p.Lys571Gln) n.2072A>C | |
9 | g.34517435A>G | CA373266976 | DNAI1 | c.1969A>G (p.Lys657Glu) c.329+2696A>G c.757A>G n.545A>G c.1981A>G (p.Lys661Glu) c.1438A>G (p.Lys480Glu) c.1723A>G (p.Lys575Glu) c.1711A>G (p.Lys571Glu) n.2072A>G | |
9 | g.34517435A>T | CA373266977 | DNAI1 | c.1969A>T (p.Lys657Ter) c.329+2696A>T c.757A>T n.545A>T c.1981A>T (p.Lys661Ter) c.1438A>T (p.Lys480Ter) c.1723A>T (p.Lys575Ter) c.1711A>T (p.Lys571Ter) n.2072A>T | |
9 | g.34517436A= | CA1845592247 | DNAI1 | c.1970A= (p.Lys657=) c.329+2697A= c.758A= n.546A= c.1982A= (p.Lys661=) c.1439A= (p.Lys480=) c.1724A= (p.Lys575=) c.1712A= (p.Lys571=) n.2073A= | |
9 | g.34517436A>C | CA373266978 | DNAI1 | c.1970A>C (p.Lys657Thr) c.329+2697A>C c.758A>C n.546A>C c.1982A>C (p.Lys661Thr) c.1439A>C (p.Lys480Thr) c.1724A>C (p.Lys575Thr) c.1712A>C (p.Lys571Thr) n.2073A>C | |
9 | g.34517436A>G | CA5034592 | DNAI1 | c.1970A>G (p.Lys657Arg) c.329+2697A>G c.758A>G n.546A>G c.1982A>G (p.Lys661Arg) c.1439A>G (p.Lys480Arg) c.1724A>G (p.Lys575Arg) c.1712A>G (p.Lys571Arg) n.2073A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.34517436A>T | CA373266981 | DNAI1 | c.1970A>T (p.Lys657Met) c.329+2697A>T c.758A>T n.546A>T c.1982A>T (p.Lys661Met) c.1439A>T (p.Lys480Met) c.1724A>T (p.Lys575Met) c.1712A>T (p.Lys571Met) n.2073A>T | |
9 | g.34517437G>A | CA464398401 | DNAI1 | c.1971G>A (p.Lys657=) c.329+2698G>A c.759G>A n.547G>A c.1983G>A (p.Lys661=) c.1440G>A (p.Lys480=) c.1725G>A (p.Lys575=) c.1713G>A (p.Lys571=) n.2074G>A | gnomAD v4 |
9 | g.34517437G>C | CA373266985 | DNAI1 | c.1971G>C (p.Lys657Asn) c.329+2698G>C c.759G>C n.547G>C c.1983G>C (p.Lys661Asn) c.1440G>C (p.Lys480Asn) c.1725G>C (p.Lys575Asn) c.1713G>C (p.Lys571Asn) n.2074G>C | |
9 | g.34517437G>T | CA373266986 | DNAI1 | c.1971G>T (p.Lys657Asn) c.329+2698G>T c.759G>T n.547G>T c.1983G>T (p.Lys661Asn) c.1440G>T (p.Lys480Asn) c.1725G>T (p.Lys575Asn) c.1713G>T (p.Lys571Asn) n.2074G>T | |
9 | g.34517437_34517439delinsGCT | CA1845592251 | DNAI1 | c.1971_1973delinsGCT (p.Lys657=) c.329+2698_329+2700delinsGCT c.759_761delinsGCT n.547_549delinsGCT c.1983_1985delinsGCT (p.Lys661=) c.1440_1442delinsGCT (p.Lys480=) c.1725_1727delinsGCT (p.Lys575=) c.1713_1715delinsGCT (p.Lys571=) n.2074_2076delinsGCT | |
9 | g.34517438C>A | CA373266988 | DNAI1 | c.1972C>A (p.Leu658Ile) c.329+2699C>A c.760C>A n.548C>A c.1984C>A (p.Leu662Ile) c.1441C>A (p.Leu481Ile) c.1726C>A (p.Leu576Ile) c.1714C>A (p.Leu572Ile) n.2075C>A | |
9 | g.34517438C= | CA1845592265 | DNAI1 | c.1972C= (p.Leu658=) c.329+2699C= c.760C= n.548C= c.1984C= (p.Leu662=) c.1441C= (p.Leu481=) c.1726C= (p.Leu576=) c.1714C= (p.Leu572=) n.2075C= | |
9 | g.34517438C>G | CA373266989 | DNAI1 | c.1972C>G (p.Leu658Val) c.329+2699C>G c.760C>G n.548C>G c.1984C>G (p.Leu662Val) c.1441C>G (p.Leu481Val) c.1726C>G (p.Leu576Val) c.1714C>G (p.Leu572Val) n.2075C>G | |
9 | g.34517438C>T | CA373266991 | DNAI1 | c.1972C>T (p.Leu658Phe) c.329+2699C>T c.760C>T n.548C>T c.1984C>T (p.Leu662Phe) c.1441C>T (p.Leu481Phe) c.1726C>T (p.Leu576Phe) c.1714C>T (p.Leu572Phe) n.2075C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517441_34517442del | CA1845592262 | DNAI1 | c.1975_1976del (p.Ser659ThrfsTer?) c.329+2702_329+2703del c.763_764del n.551_552del c.1987_1988del (p.Ser663ThrfsTer?) c.1444_1445del (p.Ser482ThrfsTer?) c.1729_1730del (p.Ser577ThrfsTer?) c.1717_1718del (p.Ser573ThrfsTer?) n.2078_2079del | dbSNP |
9 | g.34517439T>A | CA373266993 | DNAI1 | c.1973T>A (p.Leu658His) c.329+2700T>A c.761T>A n.549T>A c.1985T>A (p.Leu662His) c.1442T>A (p.Leu481His) c.1727T>A (p.Leu576His) c.1715T>A (p.Leu572His) n.2076T>A | |
9 | g.34517439T>C | CA373266994 | DNAI1 | c.1973T>C (p.Leu658Pro) c.329+2700T>C c.761T>C n.549T>C c.1985T>C (p.Leu662Pro) c.1442T>C (p.Leu481Pro) c.1727T>C (p.Leu576Pro) c.1715T>C (p.Leu572Pro) n.2076T>C | dbSNP |
9 | g.34517439T>G | CA373266996 | DNAI1 | c.1973T>G (p.Leu658Arg) c.329+2700T>G c.761T>G n.549T>G c.1985T>G (p.Leu662Arg) c.1442T>G (p.Leu481Arg) c.1727T>G (p.Leu576Arg) c.1715T>G (p.Leu572Arg) n.2076T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517439T= | CA1845592280 | DNAI1 | c.1973T= (p.Leu658=) c.329+2700T= c.761T= n.549T= c.1985T= (p.Leu662=) c.1442T= (p.Leu481=) c.1727T= (p.Leu576=) c.1715T= (p.Leu572=) n.2076T= | |
9 | g.34517440C>A | CA464398402 | DNAI1 | c.1974C>A (p.Leu658=) c.329+2701C>A c.762C>A n.550C>A c.1986C>A (p.Leu662=) c.1443C>A (p.Leu481=) c.1728C>A (p.Leu576=) c.1716C>A (p.Leu572=) n.2077C>A | |
9 | g.34517440C= | CA1845592285 | DNAI1 | c.1974C= (p.Leu658=) c.329+2701C= c.762C= n.550C= c.1986C= (p.Leu662=) c.1443C= (p.Leu481=) c.1728C= (p.Leu576=) c.1716C= (p.Leu572=) n.2077C= | |
9 | g.34517440C>G | CA464398403 | DNAI1 | c.1974C>G (p.Leu658=) c.329+2701C>G c.762C>G n.550C>G c.1986C>G (p.Leu662=) c.1443C>G (p.Leu481=) c.1728C>G (p.Leu576=) c.1716C>G (p.Leu572=) n.2077C>G | dbSNP gnomAD v4 |
9 | g.34517440C>T | CA5034593 | DNAI1 | c.1974C>T (p.Leu658=) c.329+2701C>T c.762C>T n.550C>T c.1986C>T (p.Leu662=) c.1443C>T (p.Leu481=) c.1728C>T (p.Leu576=) c.1716C>T (p.Leu572=) n.2077C>T | dbSNP ExAC gnomAD v2 |
9 | g.34517441T>A | CA373267003 | DNAI1 | c.1975T>A (p.Ser659Thr) c.329+2702T>A c.763T>A n.551T>A c.1987T>A (p.Ser663Thr) c.1444T>A (p.Ser482Thr) c.1729T>A (p.Ser577Thr) c.1717T>A (p.Ser573Thr) n.2078T>A | |
9 | g.34517441T>C | CA373267001 | DNAI1 | c.1975T>C (p.Ser659Pro) c.329+2702T>C c.763T>C n.551T>C c.1987T>C (p.Ser663Pro) c.1444T>C (p.Ser482Pro) c.1729T>C (p.Ser577Pro) c.1717T>C (p.Ser573Pro) n.2078T>C | |
9 | g.34517441T>G | CA373266999 | DNAI1 | c.1975T>G (p.Ser659Ala) c.329+2702T>G c.763T>G n.551T>G c.1987T>G (p.Ser663Ala) c.1444T>G (p.Ser482Ala) c.1729T>G (p.Ser577Ala) c.1717T>G (p.Ser573Ala) n.2078T>G | |
9 | g.34517442C>A | CA373267005 | DNAI1 | c.1976C>A (p.Ser659Ter) c.329+2703C>A c.764C>A n.552C>A c.1988C>A (p.Ser663Ter) c.1445C>A (p.Ser482Ter) c.1730C>A (p.Ser577Ter) c.1718C>A (p.Ser573Ter) n.2079C>A | |
9 | g.34517442C>G | CA373267006 | DNAI1 | c.1976C>G (p.Ser659Ter) c.329+2703C>G c.764C>G n.552C>G c.1988C>G (p.Ser663Ter) c.1445C>G (p.Ser482Ter) c.1730C>G (p.Ser577Ter) c.1718C>G (p.Ser573Ter) n.2079C>G | |
9 | g.34517442C>T | CA373267008 | DNAI1 | c.1976C>T (p.Ser659Leu) c.329+2703C>T c.764C>T n.552C>T c.1988C>T (p.Ser663Leu) c.1445C>T (p.Ser482Leu) c.1730C>T (p.Ser577Leu) c.1718C>T (p.Ser573Leu) n.2079C>T | |
9 | g.34517443A>C | CA464398406 | DNAI1 | c.1977A>C (p.Ser659=) c.329+2704A>C c.765A>C n.553A>C c.1989A>C (p.Ser663=) c.1446A>C (p.Ser482=) c.1731A>C (p.Ser577=) c.1719A>C (p.Ser573=) n.2080A>C | |
9 | g.34517443A>G | CA464398405 | DNAI1 | c.1977A>G (p.Ser659=) c.329+2704A>G c.765A>G n.553A>G c.1989A>G (p.Ser663=) c.1446A>G (p.Ser482=) c.1731A>G (p.Ser577=) c.1719A>G (p.Ser573=) n.2080A>G | |
9 | g.34517443A>T | CA464398404 | DNAI1 | c.1977A>T (p.Ser659=) c.329+2704A>T c.765A>T n.553A>T c.1989A>T (p.Ser663=) c.1446A>T (p.Ser482=) c.1731A>T (p.Ser577=) c.1719A>T (p.Ser573=) n.2080A>T | |
9 | g.34517444C>A | CA373267011 | DNAI1 | c.1978C>A (p.Pro660Thr) c.329+2705C>A c.766C>A n.554C>A c.1990C>A (p.Pro664Thr) c.1447C>A (p.Pro483Thr) c.1732C>A (p.Pro578Thr) c.1720C>A (p.Pro574Thr) n.2081C>A | |
9 | g.34517444C>G | CA373267013 | DNAI1 | c.1978C>G (p.Pro660Ala) c.329+2705C>G c.766C>G n.554C>G c.1990C>G (p.Pro664Ala) c.1447C>G (p.Pro483Ala) c.1732C>G (p.Pro578Ala) c.1720C>G (p.Pro574Ala) n.2081C>G | |
9 | g.34517444C>T | CA373267014 | DNAI1 | c.1978C>T (p.Pro660Ser) c.329+2705C>T c.766C>T n.554C>T c.1990C>T (p.Pro664Ser) c.1447C>T (p.Pro483Ser) c.1732C>T (p.Pro578Ser) c.1720C>T (p.Pro574Ser) n.2081C>T | gnomAD v4 |
9 | g.34517445C>A | CA192653723 | DNAI1 | c.1979C>A (p.Pro660His) c.329+2706C>A c.767C>A n.555C>A c.1991C>A (p.Pro664His) c.1448C>A (p.Pro483His) c.1733C>A (p.Pro578His) c.1721C>A (p.Pro574His) n.2082C>A | dbSNP |
9 | g.34517445C= | CA1845592293 | DNAI1 | c.1979C= (p.Pro660=) c.329+2706C= c.767C= n.555C= c.1991C= (p.Pro664=) c.1448C= (p.Pro483=) c.1733C= (p.Pro578=) c.1721C= (p.Pro574=) n.2082C= | |
9 | g.34517445C>G | CA373267018 | DNAI1 | c.1979C>G (p.Pro660Arg) c.329+2706C>G c.767C>G n.555C>G c.1991C>G (p.Pro664Arg) c.1448C>G (p.Pro483Arg) c.1733C>G (p.Pro578Arg) c.1721C>G (p.Pro574Arg) n.2082C>G | gnomAD v4 |
9 | g.34517445C>T | CA373267020 | DNAI1 | c.1979C>T (p.Pro660Leu) c.329+2706C>T c.767C>T n.555C>T c.1991C>T (p.Pro664Leu) c.1448C>T (p.Pro483Leu) c.1733C>T (p.Pro578Leu) c.1721C>T (p.Pro574Leu) n.2082C>T | gnomAD v4 |
9 | g.34517446C>A | CA464398407 | DNAI1 | c.1980C>A (p.Pro660=) c.329+2707C>A c.768C>A n.556C>A c.1992C>A (p.Pro664=) c.1449C>A (p.Pro483=) c.1734C>A (p.Pro578=) c.1722C>A (p.Pro574=) n.2083C>A | |
9 | g.34517446C>G | CA464398408 | DNAI1 | c.1980C>G (p.Pro660=) c.329+2707C>G c.768C>G n.556C>G c.1992C>G (p.Pro664=) c.1449C>G (p.Pro483=) c.1734C>G (p.Pro578=) c.1722C>G (p.Pro574=) n.2083C>G | |
9 | g.34517446C>T | CA464398409 | DNAI1 | c.1980C>T (p.Pro660=) c.329+2707C>T c.768C>T n.556C>T c.1992C>T (p.Pro664=) c.1449C>T (p.Pro483=) c.1734C>T (p.Pro578=) c.1722C>T (p.Pro574=) n.2083C>T | |
9 | g.34517447A>C | CA373267021 | DNAI1 | c.1981A>C (p.Asn661His) c.329+2708A>C c.769A>C n.557A>C c.1993A>C (p.Asn665His) c.1450A>C (p.Asn484His) c.1735A>C (p.Asn579His) c.1723A>C (p.Asn575His) n.2084A>C | |
9 | g.34517447A>G | CA373267022 | DNAI1 | c.1981A>G (p.Asn661Asp) c.329+2708A>G c.769A>G n.557A>G c.1993A>G (p.Asn665Asp) c.1450A>G (p.Asn484Asp) c.1735A>G (p.Asn579Asp) c.1723A>G (p.Asn575Asp) n.2084A>G | |
9 | g.34517447A>T | CA373267024 | DNAI1 | c.1981A>T (p.Asn661Tyr) c.329+2708A>T c.769A>T n.557A>T c.1993A>T (p.Asn665Tyr) c.1450A>T (p.Asn484Tyr) c.1735A>T (p.Asn579Tyr) c.1723A>T (p.Asn575Tyr) n.2084A>T | |
9 | g.34517448A= | CA1845592305 | DNAI1 | c.1982A= (p.Asn661=) c.329+2709A= c.770A= n.558A= c.1994A= (p.Asn665=) c.1451A= (p.Asn484=) c.1736A= (p.Asn579=) c.1724A= (p.Asn575=) n.2085A= | |
9 | g.34517448A>C | CA373267031 | DNAI1 | c.1982A>C (p.Asn661Thr) c.329+2709A>C c.770A>C n.558A>C c.1994A>C (p.Asn665Thr) c.1451A>C (p.Asn484Thr) c.1736A>C (p.Asn579Thr) c.1724A>C (p.Asn575Thr) n.2085A>C | |
9 | g.34517448A>G | CA373267028 | DNAI1 | c.1982A>G (p.Asn661Ser) c.329+2709A>G c.770A>G n.558A>G c.1994A>G (p.Asn665Ser) c.1451A>G (p.Asn484Ser) c.1736A>G (p.Asn579Ser) c.1724A>G (p.Asn575Ser) n.2085A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.34517448A>T | CA373267027 | DNAI1 | c.1982A>T (p.Asn661Ile) c.329+2709A>T c.770A>T n.558A>T c.1994A>T (p.Asn665Ile) c.1451A>T (p.Asn484Ile) c.1736A>T (p.Asn579Ile) c.1724A>T (p.Asn575Ile) n.2085A>T | |
9 | g.34517449T>A | CA373267033 | DNAI1 | c.1983T>A (p.Asn661Lys) c.329+2710T>A c.771T>A n.559T>A c.1995T>A (p.Asn665Lys) c.1452T>A (p.Asn484Lys) c.1737T>A (p.Asn579Lys) c.1725T>A (p.Asn575Lys) n.2086T>A | |
9 | g.34517449T>C | CA464398410 | DNAI1 | c.1983T>C (p.Asn661=) c.329+2710T>C c.771T>C n.559T>C c.1995T>C (p.Asn665=) c.1452T>C (p.Asn484=) c.1737T>C (p.Asn579=) c.1725T>C (p.Asn575=) n.2086T>C | gnomAD v4 |
9 | g.34517449T>G | CA373267034 | DNAI1 | c.1983T>G (p.Asn661Lys) c.329+2710T>G c.771T>G n.559T>G c.1995T>G (p.Asn665Lys) c.1452T>G (p.Asn484Lys) c.1737T>G (p.Asn579Lys) c.1725T>G (p.Asn575Lys) n.2086T>G | |
9 | g.34517451del | CA2689798677 | DNAI1 | c.1985del (p.Leu662CysfsTer28) c.329+2712del c.773del n.561del c.1997del (p.Leu666CysfsTer28) c.1454del (p.Leu485CysfsTer28) c.1739del (p.Leu580CysfsTer28) c.1727del (p.Leu576CysfsTer28) n.2088del | gnomAD v4 |
9 | g.34517450T>A | CA373267036 | DNAI1 | c.1984T>A (p.Leu662Met) c.329+2711T>A c.772T>A n.560T>A c.1996T>A (p.Leu666Met) c.1453T>A (p.Leu485Met) c.1738T>A (p.Leu580Met) c.1726T>A (p.Leu576Met) n.2087T>A | |
9 | g.34517450T>C | CA464398411 | DNAI1 | c.1984T>C (p.Leu662=) c.329+2711T>C c.772T>C n.560T>C c.1996T>C (p.Leu666=) c.1453T>C (p.Leu485=) c.1738T>C (p.Leu580=) c.1726T>C (p.Leu576=) n.2087T>C | ClinVar dbSNP |
9 | g.34517450T>G | CA373267038 | DNAI1 | c.1984T>G (p.Leu662Val) c.329+2711T>G c.772T>G n.560T>G c.1996T>G (p.Leu666Val) c.1453T>G (p.Leu485Val) c.1738T>G (p.Leu580Val) c.1726T>G (p.Leu576Val) n.2087T>G | |
9 | g.34517451T>A | CA373267040 | DNAI1 | c.1985T>A (p.Leu662Ter) c.329+2712T>A c.773T>A n.561T>A c.1997T>A (p.Leu666Ter) c.1454T>A (p.Leu485Ter) c.1739T>A (p.Leu580Ter) c.1727T>A (p.Leu576Ter) n.2088T>A | |
9 | g.34517451T>C | CA373267042 | DNAI1 | c.1985T>C (p.Leu662Ser) c.329+2712T>C c.773T>C n.561T>C c.1997T>C (p.Leu666Ser) c.1454T>C (p.Leu485Ser) c.1739T>C (p.Leu580Ser) c.1727T>C (p.Leu576Ser) n.2088T>C | |
9 | g.34517451T>G | CA373267043 | DNAI1 | c.1985T>G (p.Leu662Trp) c.329+2712T>G c.773T>G n.561T>G c.1997T>G (p.Leu666Trp) c.1454T>G (p.Leu485Trp) c.1739T>G (p.Leu580Trp) c.1727T>G (p.Leu576Trp) n.2088T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517451T= | CA1845592319 | DNAI1 | c.1985T= (p.Leu662=) c.329+2712T= c.773T= n.561T= c.1997T= (p.Leu666=) c.1454T= (p.Leu485=) c.1739T= (p.Leu580=) c.1727T= (p.Leu576=) n.2088T= | |
9 | g.34517452G>A | CA464398412 | DNAI1 | c.1986G>A (p.Leu662=) c.329+2713G>A c.774G>A n.562G>A c.1998G>A (p.Leu666=) c.1455G>A (p.Leu485=) c.1740G>A (p.Leu580=) c.1728G>A (p.Leu576=) n.2089G>A | |
9 | g.34517452G>C | CA373267044 | DNAI1 | c.1986G>C (p.Leu662Phe) c.329+2713G>C c.774G>C n.562G>C c.1998G>C (p.Leu666Phe) c.1455G>C (p.Leu485Phe) c.1740G>C (p.Leu580Phe) c.1728G>C (p.Leu576Phe) n.2089G>C | |
9 | g.34517452G>T | CA373267046 | DNAI1 | c.1986G>T (p.Leu662Phe) c.329+2713G>T c.774G>T n.562G>T c.1998G>T (p.Leu666Phe) c.1455G>T (p.Leu485Phe) c.1740G>T (p.Leu580Phe) c.1728G>T (p.Leu576Phe) n.2089G>T | |
9 | g.34517453C>A | CA373267048 | DNAI1 | c.1987C>A (p.Arg663Ser) c.329+2714C>A c.775C>A n.563C>A c.1999C>A (p.Arg667Ser) c.1456C>A (p.Arg486Ser) c.1741C>A (p.Arg581Ser) c.1729C>A (p.Arg577Ser) n.2090C>A | |
9 | g.34517453C= | CA1845592331 | DNAI1 | c.1987C= (p.Arg663=) c.329+2714C= c.775C= n.563C= c.1999C= (p.Arg667=) c.1456C= (p.Arg486=) c.1741C= (p.Arg581=) c.1729C= (p.Arg577=) n.2090C= | |
9 | g.34517453C>G | CA373267049 | DNAI1 | c.1987C>G (p.Arg663Gly) c.329+2714C>G c.775C>G n.563C>G c.1999C>G (p.Arg667Gly) c.1456C>G (p.Arg486Gly) c.1741C>G (p.Arg581Gly) c.1729C>G (p.Arg577Gly) n.2090C>G | ClinVar dbSNP gnomAD v4 |
9 | g.34517453C>T | CA5034594 | DNAI1 | c.1987C>T (p.Arg663Cys) c.329+2714C>T c.775C>T n.563C>T c.1999C>T (p.Arg667Cys) c.1456C>T (p.Arg486Cys) c.1741C>T (p.Arg581Cys) c.1729C>T (p.Arg577Cys) n.2090C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.34517454G>A | CA192653727 | DNAI1 | c.1988G>A (p.Arg663His) c.329+2715G>A c.776G>A n.564G>A c.2000G>A (p.Arg667His) c.1457G>A (p.Arg486His) c.1742G>A (p.Arg581His) c.1730G>A (p.Arg577His) n.2091G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.34517454G>C | CA373267054 | DNAI1 | c.1988G>C (p.Arg663Pro) c.329+2715G>C c.776G>C n.564G>C c.2000G>C (p.Arg667Pro) c.1457G>C (p.Arg486Pro) c.1742G>C (p.Arg581Pro) c.1730G>C (p.Arg577Pro) n.2091G>C | |
9 | g.34517454G= | CA1845592341 | DNAI1 | c.1988G= (p.Arg663=) c.329+2715G= c.776G= n.564G= c.2000G= (p.Arg667=) c.1457G= (p.Arg486=) c.1742G= (p.Arg581=) c.1730G= (p.Arg577=) n.2091G= | |
9 | g.34517454G>T | CA373267052 | DNAI1 | c.1988G>T (p.Arg663Leu) c.329+2715G>T c.776G>T n.564G>T c.2000G>T (p.Arg667Leu) c.1457G>T (p.Arg486Leu) c.1742G>T (p.Arg581Leu) c.1730G>T (p.Arg577Leu) n.2091G>T | gnomAD v4 |
9 | g.34517455C>A | CA464398413 | DNAI1 | c.1989C>A (p.Arg663=) c.329+2716C>A c.777C>A n.565C>A c.2001C>A (p.Arg667=) c.1458C>A (p.Arg486=) c.1743C>A (p.Arg581=) c.1731C>A (p.Arg577=) n.2092C>A | |
9 | g.34517455C>G | CA464398415 | DNAI1 | c.1989C>G (p.Arg663=) c.329+2716C>G c.777C>G n.565C>G c.2001C>G (p.Arg667=) c.1458C>G (p.Arg486=) c.1743C>G (p.Arg581=) c.1731C>G (p.Arg577=) n.2092C>G | |
9 | g.34517455C>T | CA464398414 | DNAI1 | c.1989C>T (p.Arg663=) c.329+2716C>T c.777C>T n.565C>T c.2001C>T (p.Arg667=) c.1458C>T (p.Arg486=) c.1743C>T (p.Arg581=) c.1731C>T (p.Arg577=) n.2092C>T | gnomAD v4 |
9 | g.34517456A>C | CA373267058 | DNAI1 | c.1990A>C (p.Lys664Gln) c.329+2717A>C c.778A>C n.566A>C c.2002A>C (p.Lys668Gln) c.1459A>C (p.Lys487Gln) c.1744A>C (p.Lys582Gln) c.1732A>C (p.Lys578Gln) n.2093A>C | |
9 | g.34517456A>G | CA373267061 | DNAI1 | c.1990A>G (p.Lys664Glu) c.329+2717A>G c.778A>G n.566A>G c.2002A>G (p.Lys668Glu) c.1459A>G (p.Lys487Glu) c.1744A>G (p.Lys582Glu) c.1732A>G (p.Lys578Glu) n.2093A>G | |
9 | g.34517456A>T | CA373267060 | DNAI1 | c.1990A>T (p.Lys664Ter) c.329+2717A>T c.778A>T n.566A>T c.2002A>T (p.Lys668Ter) c.1459A>T (p.Lys487Ter) c.1744A>T (p.Lys582Ter) c.1732A>T (p.Lys578Ter) n.2093A>T | |
9 | g.34517457A>C | CA373267062 | DNAI1 | c.1991A>C (p.Lys664Thr) c.329+2718A>C c.779A>C n.567A>C c.2003A>C (p.Lys668Thr) c.1460A>C (p.Lys487Thr) c.1745A>C (p.Lys582Thr) c.1733A>C (p.Lys578Thr) n.2094A>C | |
9 | g.34517457A>G | CA373267065 | DNAI1 | c.1991A>G (p.Lys664Arg) c.329+2718A>G c.779A>G n.567A>G c.2003A>G (p.Lys668Arg) c.1460A>G (p.Lys487Arg) c.1745A>G (p.Lys582Arg) c.1733A>G (p.Lys578Arg) n.2094A>G | |
9 | g.34517457A>T | CA373267066 | DNAI1 | c.1991A>T (p.Lys664Met) c.329+2718A>T c.779A>T n.567A>T c.2003A>T (p.Lys668Met) c.1460A>T (p.Lys487Met) c.1745A>T (p.Lys582Met) c.1733A>T (p.Lys578Met) n.2094A>T | |
9 | g.34517458G>A | CA464398416 | DNAI1 | c.1992G>A (p.Lys664=) c.329+2719G>A c.780G>A n.568G>A c.2004G>A (p.Lys668=) c.1461G>A (p.Lys487=) c.1746G>A (p.Lys582=) c.1734G>A (p.Lys578=) n.2095G>A | |
9 | g.34517458G>C | CA373267068 | DNAI1 | c.1992G>C (p.Lys664Asn) c.329+2719G>C c.780G>C n.568G>C c.2004G>C (p.Lys668Asn) c.1461G>C (p.Lys487Asn) c.1746G>C (p.Lys582Asn) c.1734G>C (p.Lys578Asn) n.2095G>C | |
9 | g.34517458G= | CA1845592359 | DNAI1 | c.1992G= (p.Lys664=) c.329+2719G= c.780G= n.568G= c.2004G= (p.Lys668=) c.1461G= (p.Lys487=) c.1746G= (p.Lys582=) c.1734G= (p.Lys578=) n.2095G= | |
9 | g.34517458G>T | CA373267070 | DNAI1 | c.1992G>T (p.Lys664Asn) c.329+2719G>T c.780G>T n.568G>T c.2004G>T (p.Lys668Asn) c.1461G>T (p.Lys487Asn) c.1746G>T (p.Lys582Asn) c.1734G>T (p.Lys578Asn) n.2095G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517459A>C | CA373267072 | DNAI1 | c.1993A>C (p.Met665Leu) c.329+2720A>C c.781A>C n.569A>C c.2005A>C (p.Met669Leu) c.1462A>C (p.Met488Leu) c.1747A>C (p.Met583Leu) c.1735A>C (p.Met579Leu) n.2096A>C | |
9 | g.34517459A>G | CA373267074 | DNAI1 | c.1993A>G (p.Met665Val) c.329+2720A>G c.781A>G n.569A>G c.2005A>G (p.Met669Val) c.1462A>G (p.Met488Val) c.1747A>G (p.Met583Val) c.1735A>G (p.Met579Val) n.2096A>G | gnomAD v4 |
9 | g.34517459A>T | CA373267076 | DNAI1 | c.1993A>T (p.Met665Leu) c.329+2720A>T c.781A>T n.569A>T c.2005A>T (p.Met669Leu) c.1462A>T (p.Met488Leu) c.1747A>T (p.Met583Leu) c.1735A>T (p.Met579Leu) n.2096A>T | |
9 | g.34517460T>A | CA373267078 | DNAI1 | c.1994T>A (p.Met665Lys) c.329+2721T>A c.782T>A n.570T>A c.2006T>A (p.Met669Lys) c.1463T>A (p.Met488Lys) c.1748T>A (p.Met583Lys) c.1736T>A (p.Met579Lys) n.2097T>A | |
9 | g.34517460T>C | CA373267081 | DNAI1 | c.1994T>C (p.Met665Thr) c.329+2721T>C c.782T>C n.570T>C c.2006T>C (p.Met669Thr) c.1463T>C (p.Met488Thr) c.1748T>C (p.Met583Thr) c.1736T>C (p.Met579Thr) n.2097T>C | |
9 | g.34517460T>G | CA373267082 | DNAI1 | c.1994T>G (p.Met665Arg) c.329+2721T>G c.782T>G n.570T>G c.2006T>G (p.Met669Arg) c.1463T>G (p.Met488Arg) c.1748T>G (p.Met583Arg) c.1736T>G (p.Met579Arg) n.2097T>G | |
9 | g.34517461G>A | CA373267088 | DNAI1 | c.1995G>A (p.Met665Ile) c.329+2722G>A c.783G>A n.571G>A c.2007G>A (p.Met669Ile) c.1464G>A (p.Met488Ile) c.1749G>A (p.Met583Ile) c.1737G>A (p.Met579Ile) n.2098G>A | |
9 | g.34517461G>C | CA373267087 | DNAI1 | c.1995G>C (p.Met665Ile) c.329+2722G>C c.783G>C n.571G>C c.2007G>C (p.Met669Ile) c.1464G>C (p.Met488Ile) c.1749G>C (p.Met583Ile) c.1737G>C (p.Met579Ile) n.2098G>C | |
9 | g.34517461G>T | CA373267085 | DNAI1 | c.1995G>T (p.Met665Ile) c.329+2722G>T c.783G>T n.571G>T c.2007G>T (p.Met669Ile) c.1464G>T (p.Met488Ile) c.1749G>T (p.Met583Ile) c.1737G>T (p.Met579Ile) n.2098G>T | |
9 | g.34517462C>A | CA373267090 | DNAI1 | c.1996C>A (p.Pro666Thr) c.329+2723C>A c.784C>A n.572C>A c.2008C>A (p.Pro670Thr) c.1465C>A (p.Pro489Thr) c.1750C>A (p.Pro584Thr) c.1738C>A (p.Pro580Thr) n.2099C>A | |
9 | g.34517462C>G | CA373267092 | DNAI1 | c.1996C>G (p.Pro666Ala) c.329+2723C>G c.784C>G n.572C>G c.2008C>G (p.Pro670Ala) c.1465C>G (p.Pro489Ala) c.1750C>G (p.Pro584Ala) c.1738C>G (p.Pro580Ala) n.2099C>G | |
9 | g.34517462C>T | CA373267093 | DNAI1 | c.1996C>T (p.Pro666Ser) c.329+2723C>T c.784C>T n.572C>T c.2008C>T (p.Pro670Ser) c.1465C>T (p.Pro489Ser) c.1750C>T (p.Pro584Ser) c.1738C>T (p.Pro580Ser) n.2099C>T | gnomAD v4 |
9 | g.34517463C>A | CA373267096 | DNAI1 | c.1997C>A (p.Pro666Gln) c.329+2724C>A c.785C>A n.573C>A c.2009C>A (p.Pro670Gln) c.1466C>A (p.Pro489Gln) c.1751C>A (p.Pro584Gln) c.1739C>A (p.Pro580Gln) n.2100C>A | |
9 | g.34517463C>G | CA373267098 | DNAI1 | c.1997C>G (p.Pro666Arg) c.329+2724C>G c.785C>G n.573C>G c.2009C>G (p.Pro670Arg) c.1466C>G (p.Pro489Arg) c.1751C>G (p.Pro584Arg) c.1739C>G (p.Pro580Arg) n.2100C>G | |
9 | g.34517463C>T | CA373267100 | DNAI1 | c.1997C>T (p.Pro666Leu) c.329+2724C>T c.785C>T n.573C>T c.2009C>T (p.Pro670Leu) c.1466C>T (p.Pro489Leu) c.1751C>T (p.Pro584Leu) c.1739C>T (p.Pro580Leu) n.2100C>T | |
9 | g.34517464A= | CA1845592365 | DNAI1 | c.1998A= (p.Pro666=) c.329+2725A= c.786A= n.574A= c.2010A= (p.Pro670=) c.1467A= (p.Pro489=) c.1752A= (p.Pro584=) c.1740A= (p.Pro580=) n.2101A= | |
9 | g.34517464A>C | CA464398418 | DNAI1 | c.1998A>C (p.Pro666=) c.329+2725A>C c.786A>C n.574A>C c.2010A>C (p.Pro670=) c.1467A>C (p.Pro489=) c.1752A>C (p.Pro584=) c.1740A>C (p.Pro580=) n.2101A>C | |
9 | g.34517464A>G | CA192653728 | DNAI1 | c.1998A>G (p.Pro666=) c.329+2725A>G c.786A>G n.574A>G c.2010A>G (p.Pro670=) c.1467A>G (p.Pro489=) c.1752A>G (p.Pro584=) c.1740A>G (p.Pro580=) n.2101A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517464A>T | CA464398417 | DNAI1 | c.1998A>T (p.Pro666=) c.329+2725A>T c.786A>T n.574A>T c.2010A>T (p.Pro670=) c.1467A>T (p.Pro489=) c.1752A>T (p.Pro584=) c.1740A>T (p.Pro580=) n.2101A>T | |
9 | g.34517466del | CA2689798678 | DNAI1 | c.2000del (p.Lys667ArgfsTer23) c.329+2727del c.788del n.576del c.2012del (p.Lys671ArgfsTer23) c.1469del (p.Lys490ArgfsTer23) c.1754del (p.Lys585ArgfsTer23) c.1742del (p.Lys581ArgfsTer23) n.2103del | gnomAD v4 |
9 | g.34517465A= | CA1845592380 | DNAI1 | c.1999A= (p.Lys667=) c.329+2726A= c.787A= n.575A= c.2011A= (p.Lys671=) c.1468A= (p.Lys490=) c.1753A= (p.Lys585=) c.1741A= (p.Lys581=) n.2102A= | |
9 | g.34517465A>C | CA373267102 | DNAI1 | c.1999A>C (p.Lys667Gln) c.329+2726A>C c.787A>C n.575A>C c.2011A>C (p.Lys671Gln) c.1468A>C (p.Lys490Gln) c.1753A>C (p.Lys585Gln) c.1741A>C (p.Lys581Gln) n.2102A>C | |
9 | g.34517465A>G | CA5034595 | DNAI1 | c.1999A>G (p.Lys667Glu) c.329+2726A>G c.787A>G n.575A>G c.2011A>G (p.Lys671Glu) c.1468A>G (p.Lys490Glu) c.1753A>G (p.Lys585Glu) c.1741A>G (p.Lys581Glu) n.2102A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517465A>T | CA373267104 | DNAI1 | c.1999A>T (p.Lys667Ter) c.329+2726A>T c.787A>T n.575A>T c.2011A>T (p.Lys671Ter) c.1468A>T (p.Lys490Ter) c.1753A>T (p.Lys585Ter) c.1741A>T (p.Lys581Ter) n.2102A>T | |
9 | g.34517466A>C | CA373267107 | DNAI1 | c.2000A>C (p.Lys667Thr) c.329+2727A>C c.788A>C n.576A>C c.2012A>C (p.Lys671Thr) c.1469A>C (p.Lys490Thr) c.1754A>C (p.Lys585Thr) c.1742A>C (p.Lys581Thr) n.2103A>C | |
9 | g.34517466A>G | CA373267109 | DNAI1 | c.2000A>G (p.Lys667Arg) c.329+2727A>G c.788A>G n.576A>G c.2012A>G (p.Lys671Arg) c.1469A>G (p.Lys490Arg) c.1754A>G (p.Lys585Arg) c.1742A>G (p.Lys581Arg) n.2103A>G | |
9 | g.34517466A>T | CA373267111 | DNAI1 | c.2000A>T (p.Lys667Met) c.329+2727A>T c.788A>T n.576A>T c.2012A>T (p.Lys671Met) c.1469A>T (p.Lys490Met) c.1754A>T (p.Lys585Met) c.1742A>T (p.Lys581Met) n.2103A>T | |
9 | g.34517466_34517467insTT | CA2580080362 | DNAI1 | c.2000_2001insTT (p.Lys667AsnfsTer24) c.329+2727_329+2728insTT c.788_789insTT n.576_577insTT c.2012_2013insTT (p.Lys671AsnfsTer24) c.1469_1470insTT (p.Lys490AsnfsTer24) c.1754_1755insTT (p.Lys585AsnfsTer24) c.1742_1743insTT (p.Lys581AsnfsTer24) n.2103_2104insTT | ClinVar |
9 | g.34517467G>A | CA464398419 | DNAI1 | c.2001G>A (p.Lys667=) c.329+2728G>A c.789G>A n.577G>A c.2013G>A (p.Lys671=) c.1470G>A (p.Lys490=) c.1755G>A (p.Lys585=) c.1743G>A (p.Lys581=) n.2104G>A | |
9 | g.34517467G>C | CA373267115 | DNAI1 | c.2001G>C (p.Lys667Asn) c.329+2728G>C c.789G>C n.577G>C c.2013G>C (p.Lys671Asn) c.1470G>C (p.Lys490Asn) c.1755G>C (p.Lys585Asn) c.1743G>C (p.Lys581Asn) n.2104G>C | |
9 | g.34517467G>T | CA373267112 | DNAI1 | c.2001G>T (p.Lys667Asn) c.329+2728G>T c.789G>T n.577G>T c.2013G>T (p.Lys671Asn) c.1470G>T (p.Lys490Asn) c.1755G>T (p.Lys585Asn) c.1743G>T (p.Lys581Asn) n.2104G>T | |
9 | g.34517468G>A | CA345043 | DNAI1 | c.2001+1G>A (n.2001+1G>A) c.329+2729G>A c.2013+1G>A (n.2013+1G>A) c.1470+1G>A (n.1470+1G>A) c.1755+1G>A (n.1755+1G>A) c.1743+1G>A (n.1743+1G>A) n.2104+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.34517468G>C | CA373267117 | DNAI1 | c.2001+1G>C (n.2001+1G>C) c.329+2729G>C c.2013+1G>C (n.2013+1G>C) c.1470+1G>C (n.1470+1G>C) c.1755+1G>C (n.1755+1G>C) c.1743+1G>C (n.1743+1G>C) n.2104+1G>C | |
9 | g.34517468G= | CA1845592391 | DNAI1 | c.2001+1G= (n.2001+1G=) c.329+2729G= c.2013+1G= (n.2013+1G=) c.1470+1G= (n.1470+1G=) c.1755+1G= (n.1755+1G=) c.1743+1G= (n.1743+1G=) n.2104+1G= | |
9 | g.34517468G>T | CA373267118 | DNAI1 | c.2001+1G>T (n.2001+1G>T) c.329+2729G>T c.2013+1G>T (n.2013+1G>T) c.1470+1G>T (n.1470+1G>T) c.1755+1G>T (n.1755+1G>T) c.1743+1G>T (n.1743+1G>T) n.2104+1G>T | ClinVar |
9 | g.34517469T>A | CA373267120 | DNAI1 | c.2001+2T>A (n.2001+2T>A) c.329+2730T>A c.2013+2T>A (n.2013+2T>A) c.1470+2T>A (n.1470+2T>A) c.1755+2T>A (n.1755+2T>A) c.1743+2T>A (n.1743+2T>A) n.2104+2T>A | |
9 | g.34517469T>C | CA373267122 | DNAI1 | c.2001+2T>C (n.2001+2T>C) c.329+2730T>C c.2013+2T>C (n.2013+2T>C) c.1470+2T>C (n.1470+2T>C) c.1755+2T>C (n.1755+2T>C) c.1743+2T>C (n.1743+2T>C) n.2104+2T>C | |
9 | g.34517469T>G | CA373267124 | DNAI1 | c.2001+2T>G (n.2001+2T>G) c.329+2730T>G c.2013+2T>G (n.2013+2T>G) c.1470+2T>G (n.1470+2T>G) c.1755+2T>G (n.1755+2T>G) c.1743+2T>G (n.1743+2T>G) n.2104+2T>G | |
9 | g.34517471C>T | CA2689798679 | DNAI1 | c.2001+4C>T (n.2001+4C>T) c.329+2732C>T c.2013+4C>T (n.2013+4C>T) c.1470+4C>T (n.1470+4C>T) c.1755+4C>T (n.1755+4C>T) c.1743+4C>T (n.1743+4C>T) n.2104+4C>T | gnomAD v4 |
9 | g.34517472A= | CA1845592403 | DNAI1 | c.2001+5A= (n.2001+5A=) c.329+2733A= c.2013+5A= (n.2013+5A=) c.1470+5A= (n.1470+5A=) c.1755+5A= (n.1755+5A=) c.1743+5A= (n.1743+5A=) n.2104+5A= | |
9 | g.34517472A>G | CA5034596 | DNAI1 | c.2001+5A>G (n.2001+5A>G) c.329+2733A>G c.2013+5A>G (n.2013+5A>G) c.1470+5A>G (n.1470+5A>G) c.1755+5A>G (n.1755+5A>G) c.1743+5A>G (n.1743+5A>G) n.2104+5A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517473G>A | CA645563555 | DNAI1 | c.2001+6G>A (n.2001+6G>A) c.329+2734G>A c.2013+6G>A (n.2013+6G>A) c.1470+6G>A (n.1470+6G>A) c.1755+6G>A (n.1755+6G>A) c.1743+6G>A (n.1743+6G>A) n.2104+6G>A | COSMIC |
9 | g.34517474G>A | CA2499219862 | DNAI1 | c.2001+7G>A (n.2001+7G>A) c.329+2735G>A c.2013+7G>A (n.2013+7G>A) c.1470+7G>A (n.1470+7G>A) c.1755+7G>A (n.1755+7G>A) c.1743+7G>A (n.1743+7G>A) n.2104+7G>A | ClinVar dbSNP gnomAD v4 |
9 | g.34517474G>C | CA863463066 | DNAI1 | c.2001+7G>C (n.2001+7G>C) c.329+2735G>C c.2013+7G>C (n.2013+7G>C) c.1470+7G>C (n.1470+7G>C) c.1755+7G>C (n.1755+7G>C) c.1743+7G>C (n.1743+7G>C) n.2104+7G>C | ClinVar dbSNP |
9 | g.34517474G= | CA1845592413 | DNAI1 | c.2001+7G= (n.2001+7G=) c.329+2735G= c.2013+7G= (n.2013+7G=) c.1470+7G= (n.1470+7G=) c.1755+7G= (n.1755+7G=) c.1743+7G= (n.1743+7G=) n.2104+7G= | |
9 | g.34517474G>T | CA1845592442 | DNAI1 | c.2001+7G>T (n.2001+7G>T) c.329+2735G>T c.2013+7G>T (n.2013+7G>T) c.1470+7G>T (n.1470+7G>T) c.1755+7G>T (n.1755+7G>T) c.1743+7G>T (n.1743+7G>T) n.2104+7G>T | dbSNP |
9 | g.34517476T>C | CA2580080363 | DNAI1 | c.2001+9T>C (n.2001+9T>C) c.329+2737T>C c.2013+9T>C (n.2013+9T>C) c.1470+9T>C (n.1470+9T>C) c.1755+9T>C (n.1755+9T>C) c.1743+9T>C (n.1743+9T>C) n.2104+9T>C | ClinVar |
9 | g.34517477C= | CA1845592446 | DNAI1 | c.2001+10C= (n.2001+10C=) c.329+2738C= c.2013+10C= (n.2013+10C=) c.1470+10C= (n.1470+10C=) c.1755+10C= (n.1755+10C=) c.1743+10C= (n.1743+10C=) n.2104+10C= | |
9 | g.34517477C>G | CA863463069 | DNAI1 | c.2001+10C>G (n.2001+10C>G) c.329+2738C>G c.2013+10C>G (n.2013+10C>G) c.1470+10C>G (n.1470+10C>G) c.1755+10C>G (n.1755+10C>G) c.1743+10C>G (n.1743+10C>G) n.2104+10C>G | ClinVar dbSNP gnomAD v4 |
9 | g.34517477C>T | CA2580080364 | DNAI1 | c.2001+10C>T (n.2001+10C>T) c.329+2738C>T c.2013+10C>T (n.2013+10C>T) c.1470+10C>T (n.1470+10C>T) c.1755+10C>T (n.1755+10C>T) c.1743+10C>T (n.1743+10C>T) n.2104+10C>T | ClinVar |
9 | g.34517479G>A | CA1845592449 | DNAI1 | c.2001+12G>A (n.2001+12G>A) c.329+2740G>A c.2013+12G>A (n.2013+12G>A) c.1470+12G>A (n.1470+12G>A) c.1755+12G>A (n.1755+12G>A) c.1743+12G>A (n.1743+12G>A) n.2104+12G>A | dbSNP |
9 | g.34517479G= | CA1845592448 | DNAI1 | c.2001+12G= (n.2001+12G=) c.329+2740G= c.2013+12G= (n.2013+12G=) c.1470+12G= (n.1470+12G=) c.1755+12G= (n.1755+12G=) c.1743+12G= (n.1743+12G=) n.2104+12G= | |
9 | g.34517481G>A | CA1845592486 | DNAI1 | c.2001+14G>A (n.2001+14G>A) c.329+2742G>A c.2013+14G>A (n.2013+14G>A) c.1470+14G>A (n.1470+14G>A) c.1755+14G>A (n.1755+14G>A) c.1743+14G>A (n.1743+14G>A) n.2104+14G>A | ClinVar dbSNP gnomAD v4 |
9 | g.34517481G= | CA1845592484 | DNAI1 | c.2001+14G= (n.2001+14G=) c.329+2742G= c.2013+14G= (n.2013+14G=) c.1470+14G= (n.1470+14G=) c.1755+14G= (n.1755+14G=) c.1743+14G= (n.1743+14G=) n.2104+14G= | |
9 | g.34517483C= | CA1845592496 | DNAI1 | c.2001+16C= (n.2001+16C=) c.329+2744C= c.2013+16C= (n.2013+16C=) c.1470+16C= (n.1470+16C=) c.1755+16C= (n.1755+16C=) c.1743+16C= (n.1743+16C=) n.2104+16C= | |
9 | g.34517483C>T | CA1123116816 | DNAI1 | c.2001+16C>T (n.2001+16C>T) c.329+2744C>T c.2013+16C>T (n.2013+16C>T) c.1470+16C>T (n.1470+16C>T) c.1755+16C>T (n.1755+16C>T) c.1743+16C>T (n.1743+16C>T) n.2104+16C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517484T>A | CA2719566418 | DNAI1 | c.2001+17T>A (n.2001+17T>A) c.329+2745T>A c.2013+17T>A (n.2013+17T>A) c.1470+17T>A (n.1470+17T>A) c.1755+17T>A (n.1755+17T>A) c.1743+17T>A (n.1743+17T>A) n.2104+17T>A | dbSNP |
9 | g.34517486dup | CA2838823522 | DNAI1 | c.2001+19dup (n.2001+19dup) c.329+2747dup c.2013+19dup (n.2013+19dup) c.1470+19dup (n.1470+19dup) c.1755+19dup (n.1755+19dup) c.1743+19dup (n.1743+19dup) n.2104+19dup | |
9 | g.34517485T>C | CA2719127566 | DNAI1 | c.2001+18T>C (n.2001+18T>C) c.329+2746T>C c.2013+18T>C (n.2013+18T>C) c.1470+18T>C (n.1470+18T>C) c.1755+18T>C (n.1755+18T>C) c.1743+18T>C (n.1743+18T>C) n.2104+18T>C | dbSNP |
9 | g.34517485T>G | CA5034597 | DNAI1 | c.2001+18T>G (n.2001+18T>G) c.329+2746T>G c.2013+18T>G (n.2013+18T>G) c.1470+18T>G (n.1470+18T>G) c.1755+18T>G (n.1755+18T>G) c.1743+18T>G (n.1743+18T>G) n.2104+18T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517485T= | CA1845592501 | DNAI1 | c.2001+18T= (n.2001+18T=) c.329+2746T= c.2013+18T= (n.2013+18T=) c.1470+18T= (n.1470+18T=) c.1755+18T= (n.1755+18T=) c.1743+18T= (n.1743+18T=) n.2104+18T= | |
9 | g.34517486T>A | CA5034598 | DNAI1 | c.2001+19T>A (n.2001+19T>A) c.329+2747T>A c.2013+19T>A (n.2013+19T>A) c.1470+19T>A (n.1470+19T>A) c.1755+19T>A (n.1755+19T>A) c.1743+19T>A (n.1743+19T>A) n.2104+19T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517486T>C | CA5034599 | DNAI1 | c.2001+19T>C (n.2001+19T>C) c.329+2747T>C c.2013+19T>C (n.2013+19T>C) c.1470+19T>C (n.1470+19T>C) c.1755+19T>C (n.1755+19T>C) c.1743+19T>C (n.1743+19T>C) n.2104+19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.34517486T= | CA1845592511 | DNAI1 | c.2001+19T= (n.2001+19T=) c.329+2747T= c.2013+19T= (n.2013+19T=) c.1470+19T= (n.1470+19T=) c.1755+19T= (n.1755+19T=) c.1743+19T= (n.1743+19T=) n.2104+19T= | |
9 | g.34517487G>T | CA2689798680 | DNAI1 | c.2001+20G>T (n.2001+20G>T) c.329+2748G>T c.2013+20G>T (n.2013+20G>T) c.1470+20G>T (n.1470+20G>T) c.1755+20G>T (n.1755+20G>T) c.1743+20G>T (n.1743+20G>T) n.2104+20G>T | gnomAD v4 |
9 | g.34517489G>T | CA2839165640 | DNAI1 | c.2001+22G>T (n.2001+22G>T) c.329+2750G>T c.2013+22G>T (n.2013+22G>T) c.1470+22G>T (n.1470+22G>T) c.1755+22G>T (n.1755+22G>T) c.1743+22G>T (n.1743+22G>T) n.2104+22G>T | |
9 | g.34517490C>T | CA2689798681 | DNAI1 | c.2001+23C>T (n.2001+23C>T) c.329+2751C>T c.2013+23C>T (n.2013+23C>T) c.1470+23C>T (n.1470+23C>T) c.1755+23C>T (n.1755+23C>T) c.1743+23C>T (n.1743+23C>T) n.2104+23C>T | gnomAD v4 |
9 | g.34517492G>T | CA2838823533 | DNAI1 | c.2001+25G>T (n.2001+25G>T) c.329+2753G>T c.2013+25G>T (n.2013+25G>T) c.1470+25G>T (n.1470+25G>T) c.1755+25G>T (n.1755+25G>T) c.1743+25G>T (n.1743+25G>T) n.2104+25G>T | |
9 | g.34517494T>C | CA2579327518 | DNAI1 | c.2001+27T>C (n.2001+27T>C) c.329+2755T>C c.2013+27T>C (n.2013+27T>C) c.1470+27T>C (n.1470+27T>C) c.1755+27T>C (n.1755+27T>C) c.1743+27T>C (n.1743+27T>C) n.2104+27T>C | |
9 | g.34517500A= | CA1845592527 | DNAI1 | c.2001+33A= (n.2001+33A=) c.329+2761A= c.2013+33A= (n.2013+33A=) c.1470+33A= (n.1470+33A=) c.1755+33A= (n.1755+33A=) c.1743+33A= (n.1743+33A=) n.2104+33A= | |
9 | g.34517500A>G | CA5034600 | DNAI1 | c.2001+33A>G (n.2001+33A>G) c.329+2761A>G c.2013+33A>G (n.2013+33A>G) c.1470+33A>G (n.1470+33A>G) c.1755+33A>G (n.1755+33A>G) c.1743+33A>G (n.1743+33A>G) n.2104+33A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517500A>T | CA863463080 | DNAI1 | c.2001+33A>T (n.2001+33A>T) c.329+2761A>T c.2013+33A>T (n.2013+33A>T) c.1470+33A>T (n.1470+33A>T) c.1755+33A>T (n.1755+33A>T) c.1743+33A>T (n.1743+33A>T) n.2104+33A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517501C= | CA1845592553 | DNAI1 | c.2001+34C= (n.2001+34C=) c.329+2762C= c.2013+34C= (n.2013+34C=) c.1470+34C= (n.1470+34C=) c.1755+34C= (n.1755+34C=) c.1743+34C= (n.1743+34C=) n.2104+34C= | |
9 | g.34517501C>T | CA5034601 | DNAI1 | c.2001+34C>T (n.2001+34C>T) c.329+2762C>T c.2013+34C>T (n.2013+34C>T) c.1470+34C>T (n.1470+34C>T) c.1755+34C>T (n.1755+34C>T) c.1743+34C>T (n.1743+34C>T) n.2104+34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517502G>A | CA5034602 | DNAI1 | c.2001+35G>A (n.2001+35G>A) c.329+2763G>A c.2013+35G>A (n.2013+35G>A) c.1470+35G>A (n.1470+35G>A) c.1755+35G>A (n.1755+35G>A) c.1743+35G>A (n.1743+35G>A) n.2104+35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.34517502G= | CA1845592581 | DNAI1 | c.2001+35G= (n.2001+35G=) c.329+2763G= c.2013+35G= (n.2013+35G=) c.1470+35G= (n.1470+35G=) c.1755+35G= (n.1755+35G=) c.1743+35G= (n.1743+35G=) n.2104+35G= | |
9 | g.34517502G>T | CA5034603 | DNAI1 | c.2001+35G>T (n.2001+35G>T) c.329+2763G>T c.2013+35G>T (n.2013+35G>T) c.1470+35G>T (n.1470+35G>T) c.1755+35G>T (n.1755+35G>T) c.1743+35G>T (n.1743+35G>T) n.2104+35G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.34517503_34517505delinsTAA | CA1845592594 | DNAI1 | c.2001+36_2001+38delinsTAA (n.2001+36_2001+38delinsTAA) c.329+2764_329+2766delinsTAA c.2013+36_2013+38delinsTAA (n.2013+36_2013+38delinsTAA) c.1470+36_1470+38delinsTAA (n.1470+36_1470+38delinsTAA) c.1755+36_1755+38delinsTAA (n.1755+36_1755+38delinsTAA) c.1743+36_1743+38delinsTAA (n.1743+36_1743+38delinsTAA) n.2104+36_2104+38delinsTAA | |
9 | g.34517505_34517506del | CA1123116828 | DNAI1 | c.2001+38_2001+39del (n.2001+38_2001+39del) c.329+2766_329+2767del c.2013+38_2013+39del (n.2013+38_2013+39del) c.1470+38_1470+39del (n.1470+38_1470+39del) c.1755+38_1755+39del (n.1755+38_1755+39del) c.1743+38_1743+39del (n.1743+38_1743+39del) n.2104+38_2104+39del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.34517506A>C | CA2689798682 | DNAI1 | c.2001+39A>C (n.2001+39A>C) c.329+2767A>C c.2013+39A>C (n.2013+39A>C) c.1470+39A>C (n.1470+39A>C) c.1755+39A>C (n.1755+39A>C) c.1743+39A>C (n.1743+39A>C) n.2104+39A>C | gnomAD v4 |
9 | g.34517507G>A | CA2689798683 | DNAI1 | c.2001+40G>A (n.2001+40G>A) c.329+2768G>A c.2013+40G>A (n.2013+40G>A) c.1470+40G>A (n.1470+40G>A) c.1755+40G>A (n.1755+40G>A) c.1743+40G>A (n.1743+40G>A) n.2104+40G>A | gnomAD v4 |
9 | g.34517510T>C | CA2689798684 | DNAI1 | c.2001+43T>C (n.2001+43T>C) c.329+2771T>C c.2013+43T>C (n.2013+43T>C) c.1470+43T>C (n.1470+43T>C) c.1755+43T>C (n.1755+43T>C) c.1743+43T>C (n.1743+43T>C) n.2104+43T>C | gnomAD v4 |
9 | g.34517510T>G | CA2783508341 | DNAI1 | c.2001+43T>G (n.2001+43T>G) c.329+2771T>G c.2013+43T>G (n.2013+43T>G) c.1470+43T>G (n.1470+43T>G) c.1755+43T>G (n.1755+43T>G) c.1743+43T>G (n.1743+43T>G) n.2104+43T>G | |
9 | g.34517512C= | CA1845592605 | DNAI1 | c.2001+45C= (n.2001+45C=) c.329+2773C= c.2013+45C= (n.2013+45C=) c.1470+45C= (n.1470+45C=) c.1755+45C= (n.1755+45C=) c.1743+45C= (n.1743+45C=) n.2104+45C= | |
9 | g.34517512C>T | CA587231456 | DNAI1 | c.2001+45C>T (n.2001+45C>T) c.329+2773C>T c.2013+45C>T (n.2013+45C>T) c.1470+45C>T (n.1470+45C>T) c.1755+45C>T (n.1755+45C>T) c.1743+45C>T (n.1743+45C>T) n.2104+45C>T | dbSNP gnomAD v2 |