| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135775344A= | CA1883884749 | KCNT1 | c.2278A= (p.Ile760=) c.2119A= (p.Ile707=) c.2026A= (p.Ile676=) c.2035A= (p.Ile679=) c.2179A= (p.Ile727=) c.*1888A= (n.*1888A=) c.2161A= (p.Ile721=) c.2221A= (p.Ile741=) c.2215A= (p.Ile739=) n.2097A= c.2143A= (p.Ile715=) c.2113A= (p.Ile705=) c.127A= (p.Ile43=) c.2413A= (p.Ile805=) c.2422A= (p.Ile808=) c.1768A= (p.Ile590=) c.2212A= (p.Ile738=) | |
| 9 | g.135775344A>C | CA375512219 | KCNT1 | c.2278A>C (p.Ile760Leu) c.2119A>C (p.Ile707Leu) c.2026A>C (p.Ile676Leu) c.2035A>C (p.Ile679Leu) c.2179A>C (p.Ile727Leu) c.*1888A>C (n.*1888A>C) c.2161A>C (p.Ile721Leu) c.2221A>C (p.Ile741Leu) c.2215A>C (p.Ile739Leu) n.2097A>C c.2143A>C (p.Ile715Leu) c.2113A>C (p.Ile705Leu) c.127A>C (p.Ile43Leu) c.2413A>C (p.Ile805Leu) c.2422A>C (p.Ile808Leu) c.1768A>C (p.Ile590Leu) c.2212A>C (p.Ile738Leu) | |
| 9 | g.135775344A>G | CA375512220 | KCNT1 | c.2278A>G (p.Ile760Val) c.2119A>G (p.Ile707Val) c.2026A>G (p.Ile676Val) c.2035A>G (p.Ile679Val) c.2179A>G (p.Ile727Val) c.*1888A>G (n.*1888A>G) c.2161A>G (p.Ile721Val) c.2221A>G (p.Ile741Val) c.2215A>G (p.Ile739Val) n.2097A>G c.2143A>G (p.Ile715Val) c.2113A>G (p.Ile705Val) c.127A>G (p.Ile43Val) c.2413A>G (p.Ile805Val) c.2422A>G (p.Ile808Val) c.1768A>G (p.Ile590Val) c.2212A>G (p.Ile738Val) | gnomAD v4 |
| 9 | g.135775344A>T | CA16618797 | KCNT1 | c.2278A>T (p.Ile760Phe) c.2119A>T (p.Ile707Phe) c.2026A>T (p.Ile676Phe) c.2035A>T (p.Ile679Phe) c.2179A>T (p.Ile727Phe) c.*1888A>T (n.*1888A>T) c.2161A>T (p.Ile721Phe) c.2221A>T (p.Ile741Phe) c.2215A>T (p.Ile739Phe) n.2097A>T c.2143A>T (p.Ile715Phe) c.2113A>T (p.Ile705Phe) c.127A>T (p.Ile43Phe) c.2413A>T (p.Ile805Phe) c.2422A>T (p.Ile808Phe) c.1768A>T (p.Ile590Phe) c.2212A>T (p.Ile738Phe) | ClinVar dbSNP |
| 9 | g.135775345T>A | CA375512222 | KCNT1 | c.2279T>A (p.Ile760Asn) c.2120T>A (p.Ile707Asn) c.2027T>A (p.Ile676Asn) c.2036T>A (p.Ile679Asn) c.2180T>A (p.Ile727Asn) c.*1889T>A (n.*1889T>A) c.2162T>A (p.Ile721Asn) c.2222T>A (p.Ile741Asn) c.2216T>A (p.Ile739Asn) n.2098T>A c.2144T>A (p.Ile715Asn) c.2114T>A (p.Ile705Asn) c.128T>A (p.Ile43Asn) c.2414T>A (p.Ile805Asn) c.2423T>A (p.Ile808Asn) c.1769T>A (p.Ile590Asn) c.2213T>A (p.Ile738Asn) | |
| 9 | g.135775345T>C | CA375512224 | KCNT1 | c.2279T>C (p.Ile760Thr) c.2120T>C (p.Ile707Thr) c.2027T>C (p.Ile676Thr) c.2036T>C (p.Ile679Thr) c.2180T>C (p.Ile727Thr) c.*1889T>C (n.*1889T>C) c.2162T>C (p.Ile721Thr) c.2222T>C (p.Ile741Thr) c.2216T>C (p.Ile739Thr) n.2098T>C c.2144T>C (p.Ile715Thr) c.2114T>C (p.Ile705Thr) c.128T>C (p.Ile43Thr) c.2414T>C (p.Ile805Thr) c.2423T>C (p.Ile808Thr) c.1769T>C (p.Ile590Thr) c.2213T>C (p.Ile738Thr) | |
| 9 | g.135775345T>G | CA375512225 | KCNT1 | c.2279T>G (p.Ile760Ser) c.2120T>G (p.Ile707Ser) c.2027T>G (p.Ile676Ser) c.2036T>G (p.Ile679Ser) c.2180T>G (p.Ile727Ser) c.*1889T>G (n.*1889T>G) c.2162T>G (p.Ile721Ser) c.2222T>G (p.Ile741Ser) c.2216T>G (p.Ile739Ser) n.2098T>G c.2144T>G (p.Ile715Ser) c.2114T>G (p.Ile705Ser) c.128T>G (p.Ile43Ser) c.2414T>G (p.Ile805Ser) c.2423T>G (p.Ile808Ser) c.1769T>G (p.Ile590Ser) c.2213T>G (p.Ile738Ser) | |
| 9 | g.135775346C>A | CA5327248 | KCNT1 | c.2280C>A (p.Ile760=) c.2121C>A (p.Ile707=) c.2028C>A (p.Ile676=) c.2037C>A (p.Ile679=) c.2181C>A (p.Ile727=) c.*1890C>A (n.*1890C>A) c.2163C>A (p.Ile721=) c.2223C>A (p.Ile741=) c.2217C>A (p.Ile739=) n.2099C>A c.2145C>A (p.Ile715=) c.2115C>A (p.Ile705=) c.129C>A (p.Ile43=) c.2415C>A (p.Ile805=) c.2424C>A (p.Ile808=) c.1770C>A (p.Ile590=) c.2214C>A (p.Ile738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135775346C= | CA1883884760 | KCNT1 | c.2280C= (p.Ile760=) c.2121C= (p.Ile707=) c.2028C= (p.Ile676=) c.2037C= (p.Ile679=) c.2181C= (p.Ile727=) c.*1890C= (n.*1890C=) c.2163C= (p.Ile721=) c.2223C= (p.Ile741=) c.2217C= (p.Ile739=) n.2099C= c.2145C= (p.Ile715=) c.2115C= (p.Ile705=) c.129C= (p.Ile43=) c.2415C= (p.Ile805=) c.2424C= (p.Ile808=) c.1770C= (p.Ile590=) c.2214C= (p.Ile738=) | |
| 9 | g.135775346C>G | CA130395 | KCNT1 | c.2280C>G (p.Ile760Met) c.2121C>G (p.Ile707Met) c.2028C>G (p.Ile676Met) c.2037C>G (p.Ile679Met) c.2181C>G (p.Ile727Met) c.*1890C>G (n.*1890C>G) c.2163C>G (p.Ile721Met) c.2223C>G (p.Ile741Met) c.2217C>G (p.Ile739Met) n.2099C>G c.2145C>G (p.Ile715Met) c.2115C>G (p.Ile705Met) c.129C>G (p.Ile43Met) c.2415C>G (p.Ile805Met) c.2424C>G (p.Ile808Met) c.1770C>G (p.Ile590Met) c.2214C>G (p.Ile738Met) | ClinVar dbSNP |
| 9 | g.135775346C>T | CA5327247 | KCNT1 | c.2280C>T (p.Ile760=) c.2121C>T (p.Ile707=) c.2028C>T (p.Ile676=) c.2037C>T (p.Ile679=) c.2181C>T (p.Ile727=) c.*1890C>T (n.*1890C>T) c.2163C>T (p.Ile721=) c.2223C>T (p.Ile741=) c.2217C>T (p.Ile739=) n.2099C>T c.2145C>T (p.Ile715=) c.2115C>T (p.Ile705=) c.129C>T (p.Ile43=) c.2415C>T (p.Ile805=) c.2424C>T (p.Ile808=) c.1770C>T (p.Ile590=) c.2214C>T (p.Ile738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135775347G>A | CA5327249 | KCNT1 | c.2281G>A (p.Gly761Ser) c.2122G>A (p.Gly708Ser) c.2029G>A (p.Gly677Ser) c.2038G>A (p.Gly680Ser) c.2182G>A (p.Gly728Ser) c.*1891G>A (n.*1891G>A) c.2164G>A (p.Gly722Ser) c.2224G>A (p.Gly742Ser) c.2218G>A (p.Gly740Ser) n.2100G>A c.2146G>A (p.Gly716Ser) c.2116G>A (p.Gly706Ser) c.130G>A (p.Gly44Ser) c.2416G>A (p.Gly806Ser) c.2425G>A (p.Gly809Ser) c.1771G>A (p.Gly591Ser) c.2215G>A (p.Gly739Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135775347G>C | CA375512230 | KCNT1 | c.2281G>C (p.Gly761Arg) c.2122G>C (p.Gly708Arg) c.2029G>C (p.Gly677Arg) c.2038G>C (p.Gly680Arg) c.2182G>C (p.Gly728Arg) c.*1891G>C (n.*1891G>C) c.2164G>C (p.Gly722Arg) c.2224G>C (p.Gly742Arg) c.2218G>C (p.Gly740Arg) n.2100G>C c.2146G>C (p.Gly716Arg) c.2116G>C (p.Gly706Arg) c.130G>C (p.Gly44Arg) c.2416G>C (p.Gly806Arg) c.2425G>C (p.Gly809Arg) c.1771G>C (p.Gly591Arg) c.2215G>C (p.Gly739Arg) | |
| 9 | g.135775347G= | CA1883884776 | KCNT1 | c.2281G= (p.Gly761=) c.2122G= (p.Gly708=) c.2029G= (p.Gly677=) c.2038G= (p.Gly680=) c.2182G= (p.Gly728=) c.*1891G= (n.*1891G=) c.2164G= (p.Gly722=) c.2224G= (p.Gly742=) c.2218G= (p.Gly740=) n.2100G= c.2146G= (p.Gly716=) c.2116G= (p.Gly706=) c.130G= (p.Gly44=) c.2416G= (p.Gly806=) c.2425G= (p.Gly809=) c.1771G= (p.Gly591=) c.2215G= (p.Gly739=) | |
| 9 | g.135775347G>T | CA375512229 | KCNT1 | c.2281G>T (p.Gly761Cys) c.2122G>T (p.Gly708Cys) c.2029G>T (p.Gly677Cys) c.2038G>T (p.Gly680Cys) c.2182G>T (p.Gly728Cys) c.*1891G>T (n.*1891G>T) c.2164G>T (p.Gly722Cys) c.2224G>T (p.Gly742Cys) c.2218G>T (p.Gly740Cys) n.2100G>T c.2146G>T (p.Gly716Cys) c.2116G>T (p.Gly706Cys) c.130G>T (p.Gly44Cys) c.2416G>T (p.Gly806Cys) c.2425G>T (p.Gly809Cys) c.1771G>T (p.Gly591Cys) c.2215G>T (p.Gly739Cys) | |
| 9 | g.135775348G>A | CA375512232 | KCNT1 | c.2282G>A (p.Gly761Asp) c.2123G>A (p.Gly708Asp) c.2030G>A (p.Gly677Asp) c.2039G>A (p.Gly680Asp) c.2183G>A (p.Gly728Asp) c.*1892G>A (n.*1892G>A) c.2165G>A (p.Gly722Asp) c.2225G>A (p.Gly742Asp) c.2219G>A (p.Gly740Asp) n.2101G>A c.2147G>A (p.Gly716Asp) c.2117G>A (p.Gly706Asp) c.131G>A (p.Gly44Asp) c.2417G>A (p.Gly806Asp) c.2426G>A (p.Gly809Asp) c.1772G>A (p.Gly591Asp) c.2216G>A (p.Gly739Asp) | |
| 9 | g.135775348G>C | CA375512231 | KCNT1 | c.2282G>C (p.Gly761Ala) c.2123G>C (p.Gly708Ala) c.2030G>C (p.Gly677Ala) c.2039G>C (p.Gly680Ala) c.2183G>C (p.Gly728Ala) c.*1892G>C (n.*1892G>C) c.2165G>C (p.Gly722Ala) c.2225G>C (p.Gly742Ala) c.2219G>C (p.Gly740Ala) n.2101G>C c.2147G>C (p.Gly716Ala) c.2117G>C (p.Gly706Ala) c.131G>C (p.Gly44Ala) c.2417G>C (p.Gly806Ala) c.2426G>C (p.Gly809Ala) c.1772G>C (p.Gly591Ala) c.2216G>C (p.Gly739Ala) | |
| 9 | g.135775348G>T | CA375512234 | KCNT1 | c.2282G>T (p.Gly761Val) c.2123G>T (p.Gly708Val) c.2030G>T (p.Gly677Val) c.2039G>T (p.Gly680Val) c.2183G>T (p.Gly728Val) c.*1892G>T (n.*1892G>T) c.2165G>T (p.Gly722Val) c.2225G>T (p.Gly742Val) c.2219G>T (p.Gly740Val) n.2101G>T c.2147G>T (p.Gly716Val) c.2117G>T (p.Gly706Val) c.131G>T (p.Gly44Val) c.2417G>T (p.Gly806Val) c.2426G>T (p.Gly809Val) c.1772G>T (p.Gly591Val) c.2216G>T (p.Gly739Val) | |
| 9 | g.135775349C>A | CA467698746 | KCNT1 | c.2283C>A (p.Gly761=) c.2124C>A (p.Gly708=) c.2031C>A (p.Gly677=) c.2040C>A (p.Gly680=) c.2184C>A (p.Gly728=) c.*1893C>A (n.*1893C>A) c.2166C>A (p.Gly722=) c.2226C>A (p.Gly742=) c.2220C>A (p.Gly740=) n.2102C>A c.2148C>A (p.Gly716=) c.2118C>A (p.Gly706=) c.132C>A (p.Gly44=) c.2418C>A (p.Gly806=) c.2427C>A (p.Gly809=) c.1773C>A (p.Gly591=) c.2217C>A (p.Gly739=) | |
| 9 | g.135775349C= | CA1883884783 | KCNT1 | c.2283C= (p.Gly761=) c.2124C= (p.Gly708=) c.2031C= (p.Gly677=) c.2040C= (p.Gly680=) c.2184C= (p.Gly728=) c.*1893C= (n.*1893C=) c.2166C= (p.Gly722=) c.2226C= (p.Gly742=) c.2220C= (p.Gly740=) n.2102C= c.2148C= (p.Gly716=) c.2118C= (p.Gly706=) c.132C= (p.Gly44=) c.2418C= (p.Gly806=) c.2427C= (p.Gly809=) c.1773C= (p.Gly591=) c.2217C= (p.Gly739=) | |
| 9 | g.135775349C>G | CA467698748 | KCNT1 | c.2283C>G (p.Gly761=) c.2124C>G (p.Gly708=) c.2031C>G (p.Gly677=) c.2040C>G (p.Gly680=) c.2184C>G (p.Gly728=) c.*1893C>G (n.*1893C>G) c.2166C>G (p.Gly722=) c.2226C>G (p.Gly742=) c.2220C>G (p.Gly740=) n.2102C>G c.2148C>G (p.Gly716=) c.2118C>G (p.Gly706=) c.132C>G (p.Gly44=) c.2418C>G (p.Gly806=) c.2427C>G (p.Gly809=) c.1773C>G (p.Gly591=) c.2217C>G (p.Gly739=) | |
| 9 | g.135775349C>T | CA201476133 | KCNT1 | c.2283C>T (p.Gly761=) c.2124C>T (p.Gly708=) c.2031C>T (p.Gly677=) c.2040C>T (p.Gly680=) c.2184C>T (p.Gly728=) c.*1893C>T (n.*1893C>T) c.2166C>T (p.Gly722=) c.2226C>T (p.Gly742=) c.2220C>T (p.Gly740=) n.2102C>T c.2148C>T (p.Gly716=) c.2118C>T (p.Gly706=) c.132C>T (p.Gly44=) c.2418C>T (p.Gly806=) c.2427C>T (p.Gly809=) c.1773C>T (p.Gly591=) c.2217C>T (p.Gly739=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135775350A= | CA1883884787 | KCNT1 | c.2284A= (p.Ser762=) c.2125A= (p.Ser709=) c.2032A= (p.Ser678=) c.2041A= (p.Ser681=) c.2185A= (p.Ser729=) c.*1894A= (n.*1894A=) c.2167A= (p.Ser723=) c.2227A= (p.Ser743=) c.2221A= (p.Ser741=) n.2103A= c.2149A= (p.Ser717=) c.2119A= (p.Ser707=) c.133A= (p.Ser45=) c.2419A= (p.Ser807=) c.2428A= (p.Ser810=) c.1774A= (p.Ser592=) c.2218A= (p.Ser740=) | |
| 9 | g.135775350A>C | CA375512235 | KCNT1 | c.2284A>C (p.Ser762Arg) c.2125A>C (p.Ser709Arg) c.2032A>C (p.Ser678Arg) c.2041A>C (p.Ser681Arg) c.2185A>C (p.Ser729Arg) c.*1894A>C (n.*1894A>C) c.2167A>C (p.Ser723Arg) c.2227A>C (p.Ser743Arg) c.2221A>C (p.Ser741Arg) n.2103A>C c.2149A>C (p.Ser717Arg) c.2119A>C (p.Ser707Arg) c.133A>C (p.Ser45Arg) c.2419A>C (p.Ser807Arg) c.2428A>C (p.Ser810Arg) c.1774A>C (p.Ser592Arg) c.2218A>C (p.Ser740Arg) | |
| 9 | g.135775350A>G | CA375512236 | KCNT1 | c.2284A>G (p.Ser762Gly) c.2125A>G (p.Ser709Gly) c.2032A>G (p.Ser678Gly) c.2041A>G (p.Ser681Gly) c.2185A>G (p.Ser729Gly) c.*1894A>G (n.*1894A>G) c.2167A>G (p.Ser723Gly) c.2227A>G (p.Ser743Gly) c.2221A>G (p.Ser741Gly) n.2103A>G c.2149A>G (p.Ser717Gly) c.2119A>G (p.Ser707Gly) c.133A>G (p.Ser45Gly) c.2419A>G (p.Ser807Gly) c.2428A>G (p.Ser810Gly) c.1774A>G (p.Ser592Gly) c.2218A>G (p.Ser740Gly) | |
| 9 | g.135775350A>T | CA375512237 | KCNT1 | c.2284A>T (p.Ser762Cys) c.2125A>T (p.Ser709Cys) c.2032A>T (p.Ser678Cys) c.2041A>T (p.Ser681Cys) c.2185A>T (p.Ser729Cys) c.*1894A>T (n.*1894A>T) c.2167A>T (p.Ser723Cys) c.2227A>T (p.Ser743Cys) c.2221A>T (p.Ser741Cys) n.2103A>T c.2149A>T (p.Ser717Cys) c.2119A>T (p.Ser707Cys) c.133A>T (p.Ser45Cys) c.2419A>T (p.Ser807Cys) c.2428A>T (p.Ser810Cys) c.1774A>T (p.Ser592Cys) c.2218A>T (p.Ser740Cys) | |
| 9 | g.135775351G>A | CA375512241 | KCNT1 | c.2285G>A (p.Ser762Asn) c.2126G>A (p.Ser709Asn) c.2033G>A (p.Ser678Asn) c.2042G>A (p.Ser681Asn) c.2186G>A (p.Ser729Asn) c.*1895G>A (n.*1895G>A) c.2168G>A (p.Ser723Asn) c.2228G>A (p.Ser743Asn) c.2222G>A (p.Ser741Asn) n.2104G>A c.2150G>A (p.Ser717Asn) c.2120G>A (p.Ser707Asn) c.134G>A (p.Ser45Asn) c.2420G>A (p.Ser807Asn) c.2429G>A (p.Ser810Asn) c.1775G>A (p.Ser592Asn) c.2219G>A (p.Ser740Asn) | gnomAD v4 |
| 9 | g.135775351G>C | CA375512242 | KCNT1 | c.2285G>C (p.Ser762Thr) c.2126G>C (p.Ser709Thr) c.2033G>C (p.Ser678Thr) c.2042G>C (p.Ser681Thr) c.2186G>C (p.Ser729Thr) c.*1895G>C (n.*1895G>C) c.2168G>C (p.Ser723Thr) c.2228G>C (p.Ser743Thr) c.2222G>C (p.Ser741Thr) n.2104G>C c.2150G>C (p.Ser717Thr) c.2120G>C (p.Ser707Thr) c.134G>C (p.Ser45Thr) c.2420G>C (p.Ser807Thr) c.2429G>C (p.Ser810Thr) c.1775G>C (p.Ser592Thr) c.2219G>C (p.Ser740Thr) | |
| 9 | g.135775351G>T | CA375512244 | KCNT1 | c.2285G>T (p.Ser762Ile) c.2126G>T (p.Ser709Ile) c.2033G>T (p.Ser678Ile) c.2042G>T (p.Ser681Ile) c.2186G>T (p.Ser729Ile) c.*1895G>T (n.*1895G>T) c.2168G>T (p.Ser723Ile) c.2228G>T (p.Ser743Ile) c.2222G>T (p.Ser741Ile) n.2104G>T c.2150G>T (p.Ser717Ile) c.2120G>T (p.Ser707Ile) c.134G>T (p.Ser45Ile) c.2420G>T (p.Ser807Ile) c.2429G>T (p.Ser810Ile) c.1775G>T (p.Ser592Ile) c.2219G>T (p.Ser740Ile) | |
| 9 | g.135775351dup | CA201476136 | KCNT1 | c.2285dup (p.Ser762ArgfsTer30) c.2126dup (p.Ser709ArgfsTer30) c.2033dup (p.Ser678ArgfsTer30) c.2042dup (p.Ser681ArgfsTer30) c.2186dup (p.Ser729ArgfsTer30) c.*1895dup (n.*1895dup) c.2168dup (p.Ser723ArgfsTer30) c.2228dup (p.Ser743ArgfsTer30) c.2222dup (p.Ser741ArgfsTer30) n.2104dup c.2150dup (p.Ser717ArgfsTer30) c.2120dup (p.Ser707ArgfsTer30) c.134dup (p.Ser45ArgfsTer30) c.2420dup (p.Ser807ArgfsTer30) c.2429dup (p.Ser810ArgfsTer30) c.1775dup (p.Ser592ArgfsTer30) c.2219dup (p.Ser740ArgfsTer30) | dbSNP |
| 9 | g.135775352C>A | CA375512246 | KCNT1 | c.2286C>A (p.Ser762Arg) c.2127C>A (p.Ser709Arg) c.2034C>A (p.Ser678Arg) c.2043C>A (p.Ser681Arg) c.2187C>A (p.Ser729Arg) c.*1896C>A (n.*1896C>A) c.2169C>A (p.Ser723Arg) c.2229C>A (p.Ser743Arg) c.2223C>A (p.Ser741Arg) n.2105C>A c.2151C>A (p.Ser717Arg) c.2121C>A (p.Ser707Arg) c.135C>A (p.Ser45Arg) c.2421C>A (p.Ser807Arg) c.2430C>A (p.Ser810Arg) c.1776C>A (p.Ser592Arg) c.2220C>A (p.Ser740Arg) | |
| 9 | g.135775352C= | CA1883884795 | KCNT1 | c.2286C= (p.Ser762=) c.2127C= (p.Ser709=) c.2034C= (p.Ser678=) c.2043C= (p.Ser681=) c.2187C= (p.Ser729=) c.*1896C= (n.*1896C=) c.2169C= (p.Ser723=) c.2229C= (p.Ser743=) c.2223C= (p.Ser741=) n.2105C= c.2151C= (p.Ser717=) c.2121C= (p.Ser707=) c.135C= (p.Ser45=) c.2421C= (p.Ser807=) c.2430C= (p.Ser810=) c.1776C= (p.Ser592=) c.2220C= (p.Ser740=) | |
| 9 | g.135775352C>G | CA5327250 | KCNT1 | c.2286C>G (p.Ser762Arg) c.2127C>G (p.Ser709Arg) c.2034C>G (p.Ser678Arg) c.2043C>G (p.Ser681Arg) c.2187C>G (p.Ser729Arg) c.*1896C>G (n.*1896C>G) c.2169C>G (p.Ser723Arg) c.2229C>G (p.Ser743Arg) c.2223C>G (p.Ser741Arg) n.2105C>G c.2151C>G (p.Ser717Arg) c.2121C>G (p.Ser707Arg) c.135C>G (p.Ser45Arg) c.2421C>G (p.Ser807Arg) c.2430C>G (p.Ser810Arg) c.1776C>G (p.Ser592Arg) c.2220C>G (p.Ser740Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135775352C>T | CA467698752 | KCNT1 | c.2286C>T (p.Ser762=) c.2127C>T (p.Ser709=) c.2034C>T (p.Ser678=) c.2043C>T (p.Ser681=) c.2187C>T (p.Ser729=) c.*1896C>T (n.*1896C>T) c.2169C>T (p.Ser723=) c.2229C>T (p.Ser743=) c.2223C>T (p.Ser741=) n.2105C>T c.2151C>T (p.Ser717=) c.2121C>T (p.Ser707=) c.135C>T (p.Ser45=) c.2421C>T (p.Ser807=) c.2430C>T (p.Ser810=) c.1776C>T (p.Ser592=) c.2220C>T (p.Ser740=) | gnomAD v4 |
| 9 | g.135775353T>A | CA375512247 | KCNT1 | c.2287T>A (p.Ser763Thr) c.2128T>A (p.Ser710Thr) c.2035T>A (p.Ser679Thr) c.2044T>A (p.Ser682Thr) c.2188T>A (p.Ser730Thr) c.*1897T>A (n.*1897T>A) c.2170T>A (p.Ser724Thr) c.2230T>A (p.Ser744Thr) c.2224T>A (p.Ser742Thr) n.2106T>A c.2152T>A (p.Ser718Thr) c.2122T>A (p.Ser708Thr) c.136T>A (p.Ser46Thr) c.2422T>A (p.Ser808Thr) c.2431T>A (p.Ser811Thr) c.1777T>A (p.Ser593Thr) c.2221T>A (p.Ser741Thr) | |
| 9 | g.135775353T>C | CA375512248 | KCNT1 | c.2287T>C (p.Ser763Pro) c.2128T>C (p.Ser710Pro) c.2035T>C (p.Ser679Pro) c.2044T>C (p.Ser682Pro) c.2188T>C (p.Ser730Pro) c.*1897T>C (n.*1897T>C) c.2170T>C (p.Ser724Pro) c.2230T>C (p.Ser744Pro) c.2224T>C (p.Ser742Pro) n.2106T>C c.2152T>C (p.Ser718Pro) c.2122T>C (p.Ser708Pro) c.136T>C (p.Ser46Pro) c.2422T>C (p.Ser808Pro) c.2431T>C (p.Ser811Pro) c.1777T>C (p.Ser593Pro) c.2221T>C (p.Ser741Pro) | gnomAD v4 |
| 9 | g.135775353T>G | CA375512249 | KCNT1 | c.2287T>G (p.Ser763Ala) c.2128T>G (p.Ser710Ala) c.2035T>G (p.Ser679Ala) c.2044T>G (p.Ser682Ala) c.2188T>G (p.Ser730Ala) c.*1897T>G (n.*1897T>G) c.2170T>G (p.Ser724Ala) c.2230T>G (p.Ser744Ala) c.2224T>G (p.Ser742Ala) n.2106T>G c.2152T>G (p.Ser718Ala) c.2122T>G (p.Ser708Ala) c.136T>G (p.Ser46Ala) c.2422T>G (p.Ser808Ala) c.2431T>G (p.Ser811Ala) c.1777T>G (p.Ser593Ala) c.2221T>G (p.Ser741Ala) | dbSNP |
| 9 | g.135775353T= | CA1883884800 | KCNT1 | c.2287T= (p.Ser763=) c.2128T= (p.Ser710=) c.2035T= (p.Ser679=) c.2044T= (p.Ser682=) c.2188T= (p.Ser730=) c.*1897T= (n.*1897T=) c.2170T= (p.Ser724=) c.2230T= (p.Ser744=) c.2224T= (p.Ser742=) n.2106T= c.2152T= (p.Ser718=) c.2122T= (p.Ser708=) c.136T= (p.Ser46=) c.2422T= (p.Ser808=) c.2431T= (p.Ser811=) c.1777T= (p.Ser593=) c.2221T= (p.Ser741=) | |
| 9 | g.135775354C>A | CA375512251 | KCNT1 | c.2288C>A (p.Ser763Tyr) c.2129C>A (p.Ser710Tyr) c.2036C>A (p.Ser679Tyr) c.2045C>A (p.Ser682Tyr) c.2189C>A (p.Ser730Tyr) c.*1898C>A (n.*1898C>A) c.2171C>A (p.Ser724Tyr) c.2231C>A (p.Ser744Tyr) c.2225C>A (p.Ser742Tyr) n.2107C>A c.2153C>A (p.Ser718Tyr) c.2123C>A (p.Ser708Tyr) c.137C>A (p.Ser46Tyr) c.2423C>A (p.Ser808Tyr) c.2432C>A (p.Ser811Tyr) c.1778C>A (p.Ser593Tyr) c.2222C>A (p.Ser741Tyr) | |
| 9 | g.135775354C= | CA1883884809 | KCNT1 | c.2288C= (p.Ser763=) c.2129C= (p.Ser710=) c.2036C= (p.Ser679=) c.2045C= (p.Ser682=) c.2189C= (p.Ser730=) c.*1898C= (n.*1898C=) c.2171C= (p.Ser724=) c.2231C= (p.Ser744=) c.2225C= (p.Ser742=) n.2107C= c.2153C= (p.Ser718=) c.2123C= (p.Ser708=) c.137C= (p.Ser46=) c.2423C= (p.Ser808=) c.2432C= (p.Ser811=) c.1778C= (p.Ser593=) c.2222C= (p.Ser741=) | |
| 9 | g.135775354C>G | CA375512250 | KCNT1 | c.2288C>G (p.Ser763Cys) c.2129C>G (p.Ser710Cys) c.2036C>G (p.Ser679Cys) c.2045C>G (p.Ser682Cys) c.2189C>G (p.Ser730Cys) c.*1898C>G (n.*1898C>G) c.2171C>G (p.Ser724Cys) c.2231C>G (p.Ser744Cys) c.2225C>G (p.Ser742Cys) n.2107C>G c.2153C>G (p.Ser718Cys) c.2123C>G (p.Ser708Cys) c.137C>G (p.Ser46Cys) c.2423C>G (p.Ser808Cys) c.2432C>G (p.Ser811Cys) c.1778C>G (p.Ser593Cys) c.2222C>G (p.Ser741Cys) | |
| 9 | g.135775354C>T | CA5327251 | KCNT1 | c.2288C>T (p.Ser763Phe) c.2129C>T (p.Ser710Phe) c.2036C>T (p.Ser679Phe) c.2045C>T (p.Ser682Phe) c.2189C>T (p.Ser730Phe) c.*1898C>T (n.*1898C>T) c.2171C>T (p.Ser724Phe) c.2231C>T (p.Ser744Phe) c.2225C>T (p.Ser742Phe) n.2107C>T c.2153C>T (p.Ser718Phe) c.2123C>T (p.Ser708Phe) c.137C>T (p.Ser46Phe) c.2423C>T (p.Ser808Phe) c.2432C>T (p.Ser811Phe) c.1778C>T (p.Ser593Phe) c.2222C>T (p.Ser741Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.135775355C>A | CA467698753 | KCNT1 | c.2289C>A (p.Ser763=) c.2130C>A (p.Ser710=) c.2037C>A (p.Ser679=) c.2046C>A (p.Ser682=) c.2190C>A (p.Ser730=) c.*1899C>A (n.*1899C>A) c.2172C>A (p.Ser724=) c.2232C>A (p.Ser744=) c.2226C>A (p.Ser742=) n.2108C>A c.2154C>A (p.Ser718=) c.2124C>A (p.Ser708=) c.138C>A (p.Ser46=) c.2424C>A (p.Ser808=) c.2433C>A (p.Ser811=) c.1779C>A (p.Ser593=) c.2223C>A (p.Ser741=) | |
| 9 | g.135775355C= | CA1883884816 | KCNT1 | c.2289C= (p.Ser763=) c.2130C= (p.Ser710=) c.2037C= (p.Ser679=) c.2046C= (p.Ser682=) c.2190C= (p.Ser730=) c.*1899C= (n.*1899C=) c.2172C= (p.Ser724=) c.2232C= (p.Ser744=) c.2226C= (p.Ser742=) n.2108C= c.2154C= (p.Ser718=) c.2124C= (p.Ser708=) c.138C= (p.Ser46=) c.2424C= (p.Ser808=) c.2433C= (p.Ser811=) c.1779C= (p.Ser593=) c.2223C= (p.Ser741=) | |
| 9 | g.135775355C>G | CA467698754 | KCNT1 | c.2289C>G (p.Ser763=) c.2130C>G (p.Ser710=) c.2037C>G (p.Ser679=) c.2046C>G (p.Ser682=) c.2190C>G (p.Ser730=) c.*1899C>G (n.*1899C>G) c.2172C>G (p.Ser724=) c.2232C>G (p.Ser744=) c.2226C>G (p.Ser742=) n.2108C>G c.2154C>G (p.Ser718=) c.2124C>G (p.Ser708=) c.138C>G (p.Ser46=) c.2424C>G (p.Ser808=) c.2433C>G (p.Ser811=) c.1779C>G (p.Ser593=) c.2223C>G (p.Ser741=) | |
| 9 | g.135775355C>T | CA467698755 | KCNT1 | c.2289C>T (p.Ser763=) c.2130C>T (p.Ser710=) c.2037C>T (p.Ser679=) c.2046C>T (p.Ser682=) c.2190C>T (p.Ser730=) c.*1899C>T (n.*1899C>T) c.2172C>T (p.Ser724=) c.2232C>T (p.Ser744=) c.2226C>T (p.Ser742=) n.2108C>T c.2154C>T (p.Ser718=) c.2124C>T (p.Ser708=) c.138C>T (p.Ser46=) c.2424C>T (p.Ser808=) c.2433C>T (p.Ser811=) c.1779C>T (p.Ser593=) c.2223C>T (p.Ser741=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 9 | g.135775356C>A | CA375512253 | KCNT1 | c.2290C>A (p.Pro764Thr) c.2131C>A (p.Pro711Thr) c.2038C>A (p.Pro680Thr) c.2047C>A (p.Pro683Thr) c.2191C>A (p.Pro731Thr) c.*1900C>A (n.*1900C>A) c.2173C>A (p.Pro725Thr) c.2233C>A (p.Pro745Thr) c.2227C>A (p.Pro743Thr) n.2109C>A c.2155C>A (p.Pro719Thr) c.2125C>A (p.Pro709Thr) c.139C>A (p.Pro47Thr) c.2425C>A (p.Pro809Thr) c.2434C>A (p.Pro812Thr) c.1780C>A (p.Pro594Thr) c.2224C>A (p.Pro742Thr) | |
| 9 | g.135775356C= | CA1883884821 | KCNT1 | c.2290C= (p.Pro764=) c.2131C= (p.Pro711=) c.2038C= (p.Pro680=) c.2047C= (p.Pro683=) c.2191C= (p.Pro731=) c.*1900C= (n.*1900C=) c.2173C= (p.Pro725=) c.2233C= (p.Pro745=) c.2227C= (p.Pro743=) n.2109C= c.2155C= (p.Pro719=) c.2125C= (p.Pro709=) c.139C= (p.Pro47=) c.2425C= (p.Pro809=) c.2434C= (p.Pro812=) c.1780C= (p.Pro594=) c.2224C= (p.Pro742=) | |
| 9 | g.135775356C>G | CA375512254 | KCNT1 | c.2290C>G (p.Pro764Ala) c.2131C>G (p.Pro711Ala) c.2038C>G (p.Pro680Ala) c.2047C>G (p.Pro683Ala) c.2191C>G (p.Pro731Ala) c.*1900C>G (n.*1900C>G) c.2173C>G (p.Pro725Ala) c.2233C>G (p.Pro745Ala) c.2227C>G (p.Pro743Ala) n.2109C>G c.2155C>G (p.Pro719Ala) c.2125C>G (p.Pro709Ala) c.139C>G (p.Pro47Ala) c.2425C>G (p.Pro809Ala) c.2434C>G (p.Pro812Ala) c.1780C>G (p.Pro594Ala) c.2224C>G (p.Pro742Ala) | |
| 9 | g.135775356C>T | CA375512255 | KCNT1 | c.2290C>T (p.Pro764Ser) c.2131C>T (p.Pro711Ser) c.2038C>T (p.Pro680Ser) c.2047C>T (p.Pro683Ser) c.2191C>T (p.Pro731Ser) c.*1900C>T (n.*1900C>T) c.2173C>T (p.Pro725Ser) c.2233C>T (p.Pro745Ser) c.2227C>T (p.Pro743Ser) n.2109C>T c.2155C>T (p.Pro719Ser) c.2125C>T (p.Pro709Ser) c.139C>T (p.Pro47Ser) c.2425C>T (p.Pro809Ser) c.2434C>T (p.Pro812Ser) c.1780C>T (p.Pro594Ser) c.2224C>T (p.Pro742Ser) | dbSNP |