Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135775344A=CA1883884749KCNT1c.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=)
9g.135775344A>CCA375512219KCNT1c.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)
9g.135775344A>GCA375512220KCNT1c.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
9g.135775344A>TCA16618797KCNT1c.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
9g.135775345T>ACA375512222KCNT1c.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)
9g.135775345T>CCA375512224KCNT1c.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)
9g.135775345T>GCA375512225KCNT1c.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)
9g.135775346C>ACA5327248KCNT1c.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
9g.135775346C=CA1883884760KCNT1c.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=)
9g.135775346C>GCA130395KCNT1c.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
9g.135775346C>TCA5327247KCNT1c.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
9g.135775347G>ACA5327249KCNT1c.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
9g.135775347G>CCA375512230KCNT1c.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)
9g.135775347G=CA1883884776KCNT1c.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=)
9g.135775347G>TCA375512229KCNT1c.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)
9g.135775348G>ACA375512232KCNT1c.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)
9g.135775348G>CCA375512231KCNT1c.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)
9g.135775348G>TCA375512234KCNT1c.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)
9g.135775349C>ACA467698746KCNT1c.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=)
9g.135775349C=CA1883884783KCNT1c.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=)
9g.135775349C>GCA467698748KCNT1c.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=)
9g.135775349C>TCA201476133KCNT1c.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
9g.135775350A=CA1883884787KCNT1c.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=)
9g.135775350A>CCA375512235KCNT1c.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)
9g.135775350A>GCA375512236KCNT1c.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)
9g.135775350A>TCA375512237KCNT1c.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)
9g.135775351G>ACA375512241KCNT1c.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
9g.135775351G>CCA375512242KCNT1c.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)
9g.135775351G>TCA375512244KCNT1c.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)
9g.135775351dupCA201476136KCNT1c.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
9g.135775352C>ACA375512246KCNT1c.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)
9g.135775352C=CA1883884795KCNT1c.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=)
9g.135775352C>GCA5327250KCNT1c.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
9g.135775352C>TCA467698752KCNT1c.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
9g.135775356_135775374dupCA2786247700KCNT1c.2290_2308dup (p.Leu770ProfsTer28)
c.2131_2149dup (p.Leu717ProfsTer28)
c.2038_2056dup (p.Leu686ProfsTer28)
c.2047_2065dup (p.Leu689ProfsTer28)
c.2191_2209dup (p.Leu737ProfsTer28)
c.*1900_*1918dup (n.*1900_*1918dup)
c.2173_2191dup (p.Leu731ProfsTer28)
c.2233_2251dup (p.Leu751ProfsTer28)
c.2227_2245dup (p.Leu749ProfsTer28)
n.2109_2127dup
c.2155_2173dup (p.Leu725ProfsTer28)
c.2125_2143dup (p.Leu715ProfsTer28)
c.139_157dup (p.Leu53ProfsTer28)
c.2425_2443dup (p.Leu815ProfsTer28)
c.2434_2452dup (p.Leu818ProfsTer28)
c.1780_1798dup (p.Leu600ProfsTer28)
c.2224_2242dup (p.Leu748ProfsTer28)
9g.135775353T>ACA375512247KCNT1c.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)
9g.135775353T>CCA375512248KCNT1c.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
9g.135775353T>GCA375512249KCNT1c.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
9g.135775353T=CA1883884800KCNT1c.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=)
9g.135775354C>ACA375512251KCNT1c.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)
9g.135775354C=CA1883884809KCNT1c.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=)
9g.135775354C>GCA375512250KCNT1c.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)
9g.135775354C>TCA5327251KCNT1c.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
9g.135775355C>ACA467698753KCNT1c.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=)
9g.135775355C=CA1883884816KCNT1c.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=)
9g.135775355C>GCA467698754KCNT1c.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=)
9g.135775355C>TCA467698755KCNT1c.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
9g.135775356C>ACA375512253KCNT1c.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)
9g.135775356C=CA1883884821KCNT1c.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=)
9g.135775356C>GCA375512254KCNT1c.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)
9g.135775356C>TCA375512255KCNT1c.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
9g.135775357C>ACA375512256KCNT1c.2291C>A (p.Pro764Gln)
c.2132C>A (p.Pro711Gln)
c.2039C>A (p.Pro680Gln)
c.2048C>A (p.Pro683Gln)
c.2192C>A (p.Pro731Gln)
c.*1901C>A (n.*1901C>A)
c.2174C>A (p.Pro725Gln)
c.2234C>A (p.Pro745Gln)
c.2228C>A (p.Pro743Gln)
n.2110C>A
c.2156C>A (p.Pro719Gln)
c.2126C>A (p.Pro709Gln)
c.140C>A (p.Pro47Gln)
c.2426C>A (p.Pro809Gln)
c.2435C>A (p.Pro812Gln)
c.1781C>A (p.Pro594Gln)
c.2225C>A (p.Pro742Gln)
9g.135775357C=CA1883884827KCNT1c.2291C= (p.Pro764=)
c.2132C= (p.Pro711=)
c.2039C= (p.Pro680=)
c.2048C= (p.Pro683=)
c.2192C= (p.Pro731=)
c.*1901C= (n.*1901C=)
c.2174C= (p.Pro725=)
c.2234C= (p.Pro745=)
c.2228C= (p.Pro743=)
n.2110C=
c.2156C= (p.Pro719=)
c.2126C= (p.Pro709=)
c.140C= (p.Pro47=)
c.2426C= (p.Pro809=)
c.2435C= (p.Pro812=)
c.1781C= (p.Pro594=)
c.2225C= (p.Pro742=)
9g.135775357C>GCA375512257KCNT1c.2291C>G (p.Pro764Arg)
c.2132C>G (p.Pro711Arg)
c.2039C>G (p.Pro680Arg)
c.2048C>G (p.Pro683Arg)
c.2192C>G (p.Pro731Arg)
c.*1901C>G (n.*1901C>G)
c.2174C>G (p.Pro725Arg)
c.2234C>G (p.Pro745Arg)
c.2228C>G (p.Pro743Arg)
n.2110C>G
c.2156C>G (p.Pro719Arg)
c.2126C>G (p.Pro709Arg)
c.140C>G (p.Pro47Arg)
c.2426C>G (p.Pro809Arg)
c.2435C>G (p.Pro812Arg)
c.1781C>G (p.Pro594Arg)
c.2225C>G (p.Pro742Arg)
9g.135775357C>TCA375512258KCNT1c.2291C>T (p.Pro764Leu)
c.2132C>T (p.Pro711Leu)
c.2039C>T (p.Pro680Leu)
c.2048C>T (p.Pro683Leu)
c.2192C>T (p.Pro731Leu)
c.*1901C>T (n.*1901C>T)
c.2174C>T (p.Pro725Leu)
c.2234C>T (p.Pro745Leu)
c.2228C>T (p.Pro743Leu)
n.2110C>T
c.2156C>T (p.Pro719Leu)
c.2126C>T (p.Pro709Leu)
c.140C>T (p.Pro47Leu)
c.2426C>T (p.Pro809Leu)
c.2435C>T (p.Pro812Leu)
c.1781C>T (p.Pro594Leu)
c.2225C>T (p.Pro742Leu)
 ClinVar dbSNP
9g.135775357_135775358delinsCACA1883884826KCNT1c.2291_2292delinsCA (p.Pro764=)
c.2132_2133delinsCA (p.Pro711=)
c.2039_2040delinsCA (p.Pro680=)
c.2048_2049delinsCA (p.Pro683=)
c.2192_2193delinsCA (p.Pro731=)
c.*1901_*1902delinsCA (n.*1901_*1902delinsCA)
c.2174_2175delinsCA (p.Pro725=)
c.2234_2235delinsCA (p.Pro745=)
c.2228_2229delinsCA (p.Pro743=)
n.2110_2111delinsCA
c.2156_2157delinsCA (p.Pro719=)
c.2126_2127delinsCA (p.Pro709=)
c.140_141delinsCA (p.Pro47=)
c.2426_2427delinsCA (p.Pro809=)
c.2435_2436delinsCA (p.Pro812=)
c.1781_1782delinsCA (p.Pro594=)
c.2225_2226delinsCA (p.Pro742=)
9g.135775358A=CA1883884833KCNT1c.2292A= (p.Pro764=)
c.2133A= (p.Pro711=)
c.2040A= (p.Pro680=)
c.2049A= (p.Pro683=)
c.2193A= (p.Pro731=)
c.*1902A= (n.*1902A=)
c.2175A= (p.Pro725=)
c.2235A= (p.Pro745=)
c.2229A= (p.Pro743=)
n.2111A=
c.2157A= (p.Pro719=)
c.2127A= (p.Pro709=)
c.141A= (p.Pro47=)
c.2427A= (p.Pro809=)
c.2436A= (p.Pro812=)
c.1782A= (p.Pro594=)
c.2226A= (p.Pro742=)
9g.135775358A>CCA5327252KCNT1c.2292A>C (p.Pro764=)
c.2133A>C (p.Pro711=)
c.2040A>C (p.Pro680=)
c.2049A>C (p.Pro683=)
c.2193A>C (p.Pro731=)
c.*1902A>C (n.*1902A>C)
c.2175A>C (p.Pro725=)
c.2235A>C (p.Pro745=)
c.2229A>C (p.Pro743=)
n.2111A>C
c.2157A>C (p.Pro719=)
c.2127A>C (p.Pro709=)
c.141A>C (p.Pro47=)
c.2427A>C (p.Pro809=)
c.2436A>C (p.Pro812=)
c.1782A>C (p.Pro594=)
c.2226A>C (p.Pro742=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775358A>GCA467698758KCNT1c.2292A>G (p.Pro764=)
c.2133A>G (p.Pro711=)
c.2040A>G (p.Pro680=)
c.2049A>G (p.Pro683=)
c.2193A>G (p.Pro731=)
c.*1902A>G (n.*1902A>G)
c.2175A>G (p.Pro725=)
c.2235A>G (p.Pro745=)
c.2229A>G (p.Pro743=)
n.2111A>G
c.2157A>G (p.Pro719=)
c.2127A>G (p.Pro709=)
c.141A>G (p.Pro47=)
c.2427A>G (p.Pro809=)
c.2436A>G (p.Pro812=)
c.1782A>G (p.Pro594=)
c.2226A>G (p.Pro742=)
 gnomAD v4
9g.135775358A>TCA467698759KCNT1c.2292A>T (p.Pro764=)
c.2133A>T (p.Pro711=)
c.2040A>T (p.Pro680=)
c.2049A>T (p.Pro683=)
c.2193A>T (p.Pro731=)
c.*1902A>T (n.*1902A>T)
c.2175A>T (p.Pro725=)
c.2235A>T (p.Pro745=)
c.2229A>T (p.Pro743=)
n.2111A>T
c.2157A>T (p.Pro719=)
c.2127A>T (p.Pro709=)
c.141A>T (p.Pro47=)
c.2427A>T (p.Pro809=)
c.2436A>T (p.Pro812=)
c.1782A>T (p.Pro594=)
c.2226A>T (p.Pro742=)
9g.135775359delCA860991838KCNT1c.2293del (p.Thr765ProfsTer8)
c.2134del (p.Thr712ProfsTer8)
c.2041del (p.Thr681ProfsTer8)
c.2050del (p.Thr684ProfsTer8)
c.2194del (p.Thr732ProfsTer8)
c.*1903del (n.*1903del)
c.2176del (p.Thr726ProfsTer8)
c.2236del (p.Thr746ProfsTer8)
c.2230del (p.Thr744ProfsTer8)
n.2112del
c.2158del (p.Thr720ProfsTer8)
c.2128del (p.Thr710ProfsTer8)
c.142del (p.Thr48ProfsTer8)
c.2428del (p.Thr810ProfsTer8)
c.2437del (p.Thr813ProfsTer8)
c.1783del (p.Thr595ProfsTer8)
c.2227del (p.Thr743ProfsTer8)
 dbSNP gnomAD v3 gnomAD v4
9g.135775359A=CA1883884840KCNT1c.2293A= (p.Thr765=)
c.2134A= (p.Thr712=)
c.2041A= (p.Thr681=)
c.2050A= (p.Thr684=)
c.2194A= (p.Thr732=)
c.*1903A= (n.*1903A=)
c.2176A= (p.Thr726=)
c.2236A= (p.Thr746=)
c.2230A= (p.Thr744=)
n.2112A=
c.2158A= (p.Thr720=)
c.2128A= (p.Thr710=)
c.142A= (p.Thr48=)
c.2428A= (p.Thr810=)
c.2437A= (p.Thr813=)
c.1783A= (p.Thr595=)
c.2227A= (p.Thr743=)
9g.135775359A>CCA375512262KCNT1c.2293A>C (p.Thr765Pro)
c.2134A>C (p.Thr712Pro)
c.2041A>C (p.Thr681Pro)
c.2050A>C (p.Thr684Pro)
c.2194A>C (p.Thr732Pro)
c.*1903A>C (n.*1903A>C)
c.2176A>C (p.Thr726Pro)
c.2236A>C (p.Thr746Pro)
c.2230A>C (p.Thr744Pro)
n.2112A>C
c.2158A>C (p.Thr720Pro)
c.2128A>C (p.Thr710Pro)
c.142A>C (p.Thr48Pro)
c.2428A>C (p.Thr810Pro)
c.2437A>C (p.Thr813Pro)
c.1783A>C (p.Thr595Pro)
c.2227A>C (p.Thr743Pro)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.135775359A>GCA375512264KCNT1c.2293A>G (p.Thr765Ala)
c.2134A>G (p.Thr712Ala)
c.2041A>G (p.Thr681Ala)
c.2050A>G (p.Thr684Ala)
c.2194A>G (p.Thr732Ala)
c.*1903A>G (n.*1903A>G)
c.2176A>G (p.Thr726Ala)
c.2236A>G (p.Thr746Ala)
c.2230A>G (p.Thr744Ala)
n.2112A>G
c.2158A>G (p.Thr720Ala)
c.2128A>G (p.Thr710Ala)
c.142A>G (p.Thr48Ala)
c.2428A>G (p.Thr810Ala)
c.2437A>G (p.Thr813Ala)
c.1783A>G (p.Thr595Ala)
c.2227A>G (p.Thr743Ala)
 gnomAD v4
9g.135775359A>TCA375512266KCNT1c.2293A>T (p.Thr765Ser)
c.2134A>T (p.Thr712Ser)
c.2041A>T (p.Thr681Ser)
c.2050A>T (p.Thr684Ser)
c.2194A>T (p.Thr732Ser)
c.*1903A>T (n.*1903A>T)
c.2176A>T (p.Thr726Ser)
c.2236A>T (p.Thr746Ser)
c.2230A>T (p.Thr744Ser)
n.2112A>T
c.2158A>T (p.Thr720Ser)
c.2128A>T (p.Thr710Ser)
c.142A>T (p.Thr48Ser)
c.2428A>T (p.Thr810Ser)
c.2437A>T (p.Thr813Ser)
c.1783A>T (p.Thr595Ser)
c.2227A>T (p.Thr743Ser)
9g.135775360C>ACA375512268KCNT1c.2294C>A (p.Thr765Asn)
c.2135C>A (p.Thr712Asn)
c.2042C>A (p.Thr681Asn)
c.2051C>A (p.Thr684Asn)
c.2195C>A (p.Thr732Asn)
c.*1904C>A (n.*1904C>A)
c.2177C>A (p.Thr726Asn)
c.2237C>A (p.Thr746Asn)
c.2231C>A (p.Thr744Asn)
n.2113C>A
c.2159C>A (p.Thr720Asn)
c.2129C>A (p.Thr710Asn)
c.143C>A (p.Thr48Asn)
c.2429C>A (p.Thr810Asn)
c.2438C>A (p.Thr813Asn)
c.1784C>A (p.Thr595Asn)
c.2228C>A (p.Thr743Asn)
9g.135775360C>GCA375512270KCNT1c.2294C>G (p.Thr765Ser)
c.2135C>G (p.Thr712Ser)
c.2042C>G (p.Thr681Ser)
c.2051C>G (p.Thr684Ser)
c.2195C>G (p.Thr732Ser)
c.*1904C>G (n.*1904C>G)
c.2177C>G (p.Thr726Ser)
c.2237C>G (p.Thr746Ser)
c.2231C>G (p.Thr744Ser)
n.2113C>G
c.2159C>G (p.Thr720Ser)
c.2129C>G (p.Thr710Ser)
c.143C>G (p.Thr48Ser)
c.2429C>G (p.Thr810Ser)
c.2438C>G (p.Thr813Ser)
c.1784C>G (p.Thr595Ser)
c.2228C>G (p.Thr743Ser)
9g.135775360C>TCA375512272KCNT1c.2294C>T (p.Thr765Ile)
c.2135C>T (p.Thr712Ile)
c.2042C>T (p.Thr681Ile)
c.2051C>T (p.Thr684Ile)
c.2195C>T (p.Thr732Ile)
c.*1904C>T (n.*1904C>T)
c.2177C>T (p.Thr726Ile)
c.2237C>T (p.Thr746Ile)
c.2231C>T (p.Thr744Ile)
n.2113C>T
c.2159C>T (p.Thr720Ile)
c.2129C>T (p.Thr710Ile)
c.143C>T (p.Thr48Ile)
c.2429C>T (p.Thr810Ile)
c.2438C>T (p.Thr813Ile)
c.1784C>T (p.Thr595Ile)
c.2228C>T (p.Thr743Ile)
9g.135775361C>ACA467698762KCNT1c.2295C>A (p.Thr765=)
c.2136C>A (p.Thr712=)
c.2043C>A (p.Thr681=)
c.2052C>A (p.Thr684=)
c.2196C>A (p.Thr732=)
c.*1905C>A (n.*1905C>A)
c.2178C>A (p.Thr726=)
c.2238C>A (p.Thr746=)
c.2232C>A (p.Thr744=)
n.2114C>A
c.2160C>A (p.Thr720=)
c.2130C>A (p.Thr710=)
c.144C>A (p.Thr48=)
c.2430C>A (p.Thr810=)
c.2439C>A (p.Thr813=)
c.1785C>A (p.Thr595=)
c.2229C>A (p.Thr743=)
 dbSNP gnomAD v3 gnomAD v4
9g.135775361C=CA1883884849KCNT1c.2295C= (p.Thr765=)
c.2136C= (p.Thr712=)
c.2043C= (p.Thr681=)
c.2052C= (p.Thr684=)
c.2196C= (p.Thr732=)
c.*1905C= (n.*1905C=)
c.2178C= (p.Thr726=)
c.2238C= (p.Thr746=)
c.2232C= (p.Thr744=)
n.2114C=
c.2160C= (p.Thr720=)
c.2130C= (p.Thr710=)
c.144C= (p.Thr48=)
c.2430C= (p.Thr810=)
c.2439C= (p.Thr813=)
c.1785C= (p.Thr595=)
c.2229C= (p.Thr743=)
9g.135775361C>GCA467698763KCNT1c.2295C>G (p.Thr765=)
c.2136C>G (p.Thr712=)
c.2043C>G (p.Thr681=)
c.2052C>G (p.Thr684=)
c.2196C>G (p.Thr732=)
c.*1905C>G (n.*1905C>G)
c.2178C>G (p.Thr726=)
c.2238C>G (p.Thr746=)
c.2232C>G (p.Thr744=)
n.2114C>G
c.2160C>G (p.Thr720=)
c.2130C>G (p.Thr710=)
c.144C>G (p.Thr48=)
c.2430C>G (p.Thr810=)
c.2439C>G (p.Thr813=)
c.1785C>G (p.Thr595=)
c.2229C>G (p.Thr743=)
9g.135775361C>TCA5327253KCNT1c.2295C>T (p.Thr765=)
c.2136C>T (p.Thr712=)
c.2043C>T (p.Thr681=)
c.2052C>T (p.Thr684=)
c.2196C>T (p.Thr732=)
c.*1905C>T (n.*1905C>T)
c.2178C>T (p.Thr726=)
c.2238C>T (p.Thr746=)
c.2232C>T (p.Thr744=)
n.2114C>T
c.2160C>T (p.Thr720=)
c.2130C>T (p.Thr710=)
c.144C>T (p.Thr48=)
c.2430C>T (p.Thr810=)
c.2439C>T (p.Thr813=)
c.1785C>T (p.Thr595=)
c.2229C>T (p.Thr743=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775362C>ACA375512278KCNT1c.2296C>A (p.Leu766Met)
c.2137C>A (p.Leu713Met)
c.2044C>A (p.Leu682Met)
c.2053C>A (p.Leu685Met)
c.2197C>A (p.Leu733Met)
c.*1906C>A (n.*1906C>A)
c.2179C>A (p.Leu727Met)
c.2239C>A (p.Leu747Met)
c.2233C>A (p.Leu745Met)
n.2115C>A
c.2161C>A (p.Leu721Met)
c.2131C>A (p.Leu711Met)
c.145C>A (p.Leu49Met)
c.2431C>A (p.Leu811Met)
c.2440C>A (p.Leu814Met)
c.1786C>A (p.Leu596Met)
c.2230C>A (p.Leu744Met)
9g.135775362C>GCA375512277KCNT1c.2296C>G (p.Leu766Val)
c.2137C>G (p.Leu713Val)
c.2044C>G (p.Leu682Val)
c.2053C>G (p.Leu685Val)
c.2197C>G (p.Leu733Val)
c.*1906C>G (n.*1906C>G)
c.2179C>G (p.Leu727Val)
c.2239C>G (p.Leu747Val)
c.2233C>G (p.Leu745Val)
n.2115C>G
c.2161C>G (p.Leu721Val)
c.2131C>G (p.Leu711Val)
c.145C>G (p.Leu49Val)
c.2431C>G (p.Leu811Val)
c.2440C>G (p.Leu814Val)
c.1786C>G (p.Leu596Val)
c.2230C>G (p.Leu744Val)
9g.135775362C>TCA467698765KCNT1c.2296C>T (p.Leu766=)
c.2137C>T (p.Leu713=)
c.2044C>T (p.Leu682=)
c.2053C>T (p.Leu685=)
c.2197C>T (p.Leu733=)
c.*1906C>T (n.*1906C>T)
c.2179C>T (p.Leu727=)
c.2239C>T (p.Leu747=)
c.2233C>T (p.Leu745=)
n.2115C>T
c.2161C>T (p.Leu721=)
c.2131C>T (p.Leu711=)
c.145C>T (p.Leu49=)
c.2431C>T (p.Leu811=)
c.2440C>T (p.Leu814=)
c.1786C>T (p.Leu596=)
c.2230C>T (p.Leu744=)
 ClinVar dbSNP
9g.135775363T>ACA375512280KCNT1c.2297T>A (p.Leu766Gln)
c.2138T>A (p.Leu713Gln)
c.2045T>A (p.Leu682Gln)
c.2054T>A (p.Leu685Gln)
c.2198T>A (p.Leu733Gln)
c.*1907T>A (n.*1907T>A)
c.2180T>A (p.Leu727Gln)
c.2240T>A (p.Leu747Gln)
c.2234T>A (p.Leu745Gln)
n.2116T>A
c.2162T>A (p.Leu721Gln)
c.2132T>A (p.Leu711Gln)
c.146T>A (p.Leu49Gln)
c.2432T>A (p.Leu811Gln)
c.2441T>A (p.Leu814Gln)
c.1787T>A (p.Leu596Gln)
c.2231T>A (p.Leu744Gln)
9g.135775363T>CCA375512288KCNT1c.2297T>C (p.Leu766Pro)
c.2138T>C (p.Leu713Pro)
c.2045T>C (p.Leu682Pro)
c.2054T>C (p.Leu685Pro)
c.2198T>C (p.Leu733Pro)
c.*1907T>C (n.*1907T>C)
c.2180T>C (p.Leu727Pro)
c.2240T>C (p.Leu747Pro)
c.2234T>C (p.Leu745Pro)
n.2116T>C
c.2162T>C (p.Leu721Pro)
c.2132T>C (p.Leu711Pro)
c.146T>C (p.Leu49Pro)
c.2432T>C (p.Leu811Pro)
c.2441T>C (p.Leu814Pro)
c.1787T>C (p.Leu596Pro)
c.2231T>C (p.Leu744Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.135775363T>GCA375512290KCNT1c.2297T>G (p.Leu766Arg)
c.2138T>G (p.Leu713Arg)
c.2045T>G (p.Leu682Arg)
c.2054T>G (p.Leu685Arg)
c.2198T>G (p.Leu733Arg)
c.*1907T>G (n.*1907T>G)
c.2180T>G (p.Leu727Arg)
c.2240T>G (p.Leu747Arg)
c.2234T>G (p.Leu745Arg)
n.2116T>G
c.2162T>G (p.Leu721Arg)
c.2132T>G (p.Leu711Arg)
c.146T>G (p.Leu49Arg)
c.2432T>G (p.Leu811Arg)
c.2441T>G (p.Leu814Arg)
c.1787T>G (p.Leu596Arg)
c.2231T>G (p.Leu744Arg)
9g.135775363T=CA1883884854KCNT1c.2297T= (p.Leu766=)
c.2138T= (p.Leu713=)
c.2045T= (p.Leu682=)
c.2054T= (p.Leu685=)
c.2198T= (p.Leu733=)
c.*1907T= (n.*1907T=)
c.2180T= (p.Leu727=)
c.2240T= (p.Leu747=)
c.2234T= (p.Leu745=)
n.2116T=
c.2162T= (p.Leu721=)
c.2132T= (p.Leu711=)
c.146T= (p.Leu49=)
c.2432T= (p.Leu811=)
c.2441T= (p.Leu814=)
c.1787T= (p.Leu596=)
c.2231T= (p.Leu744=)
9g.135775364G>ACA467698767KCNT1c.2298G>A (p.Leu766=)
c.2139G>A (p.Leu713=)
c.2046G>A (p.Leu682=)
c.2055G>A (p.Leu685=)
c.2199G>A (p.Leu733=)
c.*1908G>A (n.*1908G>A)
c.2181G>A (p.Leu727=)
c.2241G>A (p.Leu747=)
c.2235G>A (p.Leu745=)
n.2117G>A
c.2163G>A (p.Leu721=)
c.2133G>A (p.Leu711=)
c.147G>A (p.Leu49=)
c.2433G>A (p.Leu811=)
c.2442G>A (p.Leu814=)
c.1788G>A (p.Leu596=)
c.2232G>A (p.Leu744=)
9g.135775364G>CCA467698768KCNT1c.2298G>C (p.Leu766=)
c.2139G>C (p.Leu713=)
c.2046G>C (p.Leu682=)
c.2055G>C (p.Leu685=)
c.2199G>C (p.Leu733=)
c.*1908G>C (n.*1908G>C)
c.2181G>C (p.Leu727=)
c.2241G>C (p.Leu747=)
c.2235G>C (p.Leu745=)
n.2117G>C
c.2163G>C (p.Leu721=)
c.2133G>C (p.Leu711=)
c.147G>C (p.Leu49=)
c.2433G>C (p.Leu811=)
c.2442G>C (p.Leu814=)
c.1788G>C (p.Leu596=)
c.2232G>C (p.Leu744=)
9g.135775364G>TCA467698769KCNT1c.2298G>T (p.Leu766=)
c.2139G>T (p.Leu713=)
c.2046G>T (p.Leu682=)
c.2055G>T (p.Leu685=)
c.2199G>T (p.Leu733=)
c.*1908G>T (n.*1908G>T)
c.2181G>T (p.Leu727=)
c.2241G>T (p.Leu747=)
c.2235G>T (p.Leu745=)
n.2117G>T
c.2163G>T (p.Leu721=)
c.2133G>T (p.Leu711=)
c.147G>T (p.Leu49=)
c.2433G>T (p.Leu811=)
c.2442G>T (p.Leu814=)
c.1788G>T (p.Leu596=)
c.2232G>T (p.Leu744=)
9g.135775365T>ACA375512292KCNT1c.2299T>A (p.Cys767Ser)
c.2140T>A (p.Cys714Ser)
c.2047T>A (p.Cys683Ser)
c.2056T>A (p.Cys686Ser)
c.2200T>A (p.Cys734Ser)
c.*1909T>A (n.*1909T>A)
c.2182T>A (p.Cys728Ser)
c.2242T>A (p.Cys748Ser)
c.2236T>A (p.Cys746Ser)
n.2118T>A
c.2164T>A (p.Cys722Ser)
c.2134T>A (p.Cys712Ser)
c.148T>A (p.Cys50Ser)
c.2434T>A (p.Cys812Ser)
c.2443T>A (p.Cys815Ser)
c.1789T>A (p.Cys597Ser)
c.2233T>A (p.Cys745Ser)
9g.135775365T>CCA375512294KCNT1c.2299T>C (p.Cys767Arg)
c.2140T>C (p.Cys714Arg)
c.2047T>C (p.Cys683Arg)
c.2056T>C (p.Cys686Arg)
c.2200T>C (p.Cys734Arg)
c.*1909T>C (n.*1909T>C)
c.2182T>C (p.Cys728Arg)
c.2242T>C (p.Cys748Arg)
c.2236T>C (p.Cys746Arg)
n.2118T>C
c.2164T>C (p.Cys722Arg)
c.2134T>C (p.Cys712Arg)
c.148T>C (p.Cys50Arg)
c.2434T>C (p.Cys812Arg)
c.2443T>C (p.Cys815Arg)
c.1789T>C (p.Cys597Arg)
c.2233T>C (p.Cys745Arg)
9g.135775365T>GCA375512296KCNT1c.2299T>G (p.Cys767Gly)
c.2140T>G (p.Cys714Gly)
c.2047T>G (p.Cys683Gly)
c.2056T>G (p.Cys686Gly)
c.2200T>G (p.Cys734Gly)
c.*1909T>G (n.*1909T>G)
c.2182T>G (p.Cys728Gly)
c.2242T>G (p.Cys748Gly)
c.2236T>G (p.Cys746Gly)
n.2118T>G
c.2164T>G (p.Cys722Gly)
c.2134T>G (p.Cys712Gly)
c.148T>G (p.Cys50Gly)
c.2434T>G (p.Cys812Gly)
c.2443T>G (p.Cys815Gly)
c.1789T>G (p.Cys597Gly)
c.2233T>G (p.Cys745Gly)
9g.135775366G>ACA375512299KCNT1c.2300G>A (p.Cys767Tyr)
c.2141G>A (p.Cys714Tyr)
c.2048G>A (p.Cys683Tyr)
c.2057G>A (p.Cys686Tyr)
c.2201G>A (p.Cys734Tyr)
c.*1910G>A (n.*1910G>A)
c.2183G>A (p.Cys728Tyr)
c.2243G>A (p.Cys748Tyr)
c.2237G>A (p.Cys746Tyr)
n.2119G>A
c.2165G>A (p.Cys722Tyr)
c.2135G>A (p.Cys712Tyr)
c.149G>A (p.Cys50Tyr)
c.2435G>A (p.Cys812Tyr)
c.2444G>A (p.Cys815Tyr)
c.1790G>A (p.Cys597Tyr)
c.2234G>A (p.Cys745Tyr)
9g.135775366G>CCA375512301KCNT1c.2300G>C (p.Cys767Ser)
c.2141G>C (p.Cys714Ser)
c.2048G>C (p.Cys683Ser)
c.2057G>C (p.Cys686Ser)
c.2201G>C (p.Cys734Ser)
c.*1910G>C (n.*1910G>C)
c.2183G>C (p.Cys728Ser)
c.2243G>C (p.Cys748Ser)
c.2237G>C (p.Cys746Ser)
n.2119G>C
c.2165G>C (p.Cys722Ser)
c.2135G>C (p.Cys712Ser)
c.149G>C (p.Cys50Ser)
c.2435G>C (p.Cys812Ser)
c.2444G>C (p.Cys815Ser)
c.1790G>C (p.Cys597Ser)
c.2234G>C (p.Cys745Ser)
9g.135775366G>TCA375512303KCNT1c.2300G>T (p.Cys767Phe)
c.2141G>T (p.Cys714Phe)
c.2048G>T (p.Cys683Phe)
c.2057G>T (p.Cys686Phe)
c.2201G>T (p.Cys734Phe)
c.*1910G>T (n.*1910G>T)
c.2183G>T (p.Cys728Phe)
c.2243G>T (p.Cys748Phe)
c.2237G>T (p.Cys746Phe)
n.2119G>T
c.2165G>T (p.Cys722Phe)
c.2135G>T (p.Cys712Phe)
c.149G>T (p.Cys50Phe)
c.2435G>T (p.Cys812Phe)
c.2444G>T (p.Cys815Phe)
c.1790G>T (p.Cys597Phe)
c.2234G>T (p.Cys745Phe)
 gnomAD v4
9g.135775367C>ACA375512304KCNT1c.2301C>A (p.Cys767Ter)
c.2142C>A (p.Cys714Ter)
c.2049C>A (p.Cys683Ter)
c.2058C>A (p.Cys686Ter)
c.2202C>A (p.Cys734Ter)
c.*1911C>A (n.*1911C>A)
c.2184C>A (p.Cys728Ter)
c.2244C>A (p.Cys748Ter)
c.2238C>A (p.Cys746Ter)
n.2120C>A
c.2166C>A (p.Cys722Ter)
c.2136C>A (p.Cys712Ter)
c.150C>A (p.Cys50Ter)
c.2436C>A (p.Cys812Ter)
c.2445C>A (p.Cys815Ter)
c.1791C>A (p.Cys597Ter)
c.2235C>A (p.Cys745Ter)
9g.135775367C>GCA375512306KCNT1c.2301C>G (p.Cys767Trp)
c.2142C>G (p.Cys714Trp)
c.2049C>G (p.Cys683Trp)
c.2058C>G (p.Cys686Trp)
c.2202C>G (p.Cys734Trp)
c.*1911C>G (n.*1911C>G)
c.2184C>G (p.Cys728Trp)
c.2244C>G (p.Cys748Trp)
c.2238C>G (p.Cys746Trp)
n.2120C>G
c.2166C>G (p.Cys722Trp)
c.2136C>G (p.Cys712Trp)
c.150C>G (p.Cys50Trp)
c.2436C>G (p.Cys812Trp)
c.2445C>G (p.Cys815Trp)
c.1791C>G (p.Cys597Trp)
c.2235C>G (p.Cys745Trp)
9g.135775367C>TCA467698773KCNT1c.2301C>T (p.Cys767=)
c.2142C>T (p.Cys714=)
c.2049C>T (p.Cys683=)
c.2058C>T (p.Cys686=)
c.2202C>T (p.Cys734=)
c.*1911C>T (n.*1911C>T)
c.2184C>T (p.Cys728=)
c.2244C>T (p.Cys748=)
c.2238C>T (p.Cys746=)
n.2120C>T
c.2166C>T (p.Cys722=)
c.2136C>T (p.Cys712=)
c.150C>T (p.Cys50=)
c.2436C>T (p.Cys812=)
c.2445C>T (p.Cys815=)
c.1791C>T (p.Cys597=)
c.2235C>T (p.Cys745=)
 gnomAD v4
9g.135775368C>ACA375512313KCNT1c.2302C>A (p.His768Asn)
c.2143C>A (p.His715Asn)
c.2050C>A (p.His684Asn)
c.2059C>A (p.His687Asn)
c.2203C>A (p.His735Asn)
c.*1912C>A (n.*1912C>A)
c.2185C>A (p.His729Asn)
c.2245C>A (p.His749Asn)
c.2239C>A (p.His747Asn)
n.2121C>A
c.2167C>A (p.His723Asn)
c.2137C>A (p.His713Asn)
c.151C>A (p.His51Asn)
c.2437C>A (p.His813Asn)
c.2446C>A (p.His816Asn)
c.1792C>A (p.His598Asn)
c.2236C>A (p.His746Asn)
9g.135775368C>GCA375512310KCNT1c.2302C>G (p.His768Asp)
c.2143C>G (p.His715Asp)
c.2050C>G (p.His684Asp)
c.2059C>G (p.His687Asp)
c.2203C>G (p.His735Asp)
c.*1912C>G (n.*1912C>G)
c.2185C>G (p.His729Asp)
c.2245C>G (p.His749Asp)
c.2239C>G (p.His747Asp)
n.2121C>G
c.2167C>G (p.His723Asp)
c.2137C>G (p.His713Asp)
c.151C>G (p.His51Asp)
c.2437C>G (p.His813Asp)
c.2446C>G (p.His816Asp)
c.1792C>G (p.His598Asp)
c.2236C>G (p.His746Asp)
9g.135775368C>TCA375512308KCNT1c.2302C>T (p.His768Tyr)
c.2143C>T (p.His715Tyr)
c.2050C>T (p.His684Tyr)
c.2059C>T (p.His687Tyr)
c.2203C>T (p.His735Tyr)
c.*1912C>T (n.*1912C>T)
c.2185C>T (p.His729Tyr)
c.2245C>T (p.His749Tyr)
c.2239C>T (p.His747Tyr)
n.2121C>T
c.2167C>T (p.His723Tyr)
c.2137C>T (p.His713Tyr)
c.151C>T (p.His51Tyr)
c.2437C>T (p.His813Tyr)
c.2446C>T (p.His816Tyr)
c.1792C>T (p.His598Tyr)
c.2236C>T (p.His746Tyr)
 gnomAD v4
9g.135775369A=CA1883884861KCNT1c.2303A= (p.His768=)
c.2144A= (p.His715=)
c.2051A= (p.His684=)
c.2060A= (p.His687=)
c.2204A= (p.His735=)
c.*1913A= (n.*1913A=)
c.2186A= (p.His729=)
c.2246A= (p.His749=)
c.2240A= (p.His747=)
n.2122A=
c.2168A= (p.His723=)
c.2138A= (p.His713=)
c.152A= (p.His51=)
c.2438A= (p.His813=)
c.2447A= (p.His816=)
c.1793A= (p.His598=)
c.2237A= (p.His746=)
9g.135775369A>CCA5327254KCNT1c.2303A>C (p.His768Pro)
c.2144A>C (p.His715Pro)
c.2051A>C (p.His684Pro)
c.2060A>C (p.His687Pro)
c.2204A>C (p.His735Pro)
c.*1913A>C (n.*1913A>C)
c.2186A>C (p.His729Pro)
c.2246A>C (p.His749Pro)
c.2240A>C (p.His747Pro)
n.2122A>C
c.2168A>C (p.His723Pro)
c.2138A>C (p.His713Pro)
c.152A>C (p.His51Pro)
c.2438A>C (p.His813Pro)
c.2447A>C (p.His816Pro)
c.1793A>C (p.His598Pro)
c.2237A>C (p.His746Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775369A>GCA375512315KCNT1c.2303A>G (p.His768Arg)
c.2144A>G (p.His715Arg)
c.2051A>G (p.His684Arg)
c.2060A>G (p.His687Arg)
c.2204A>G (p.His735Arg)
c.*1913A>G (n.*1913A>G)
c.2186A>G (p.His729Arg)
c.2246A>G (p.His749Arg)
c.2240A>G (p.His747Arg)
n.2122A>G
c.2168A>G (p.His723Arg)
c.2138A>G (p.His713Arg)
c.152A>G (p.His51Arg)
c.2438A>G (p.His813Arg)
c.2447A>G (p.His816Arg)
c.1793A>G (p.His598Arg)
c.2237A>G (p.His746Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.135775369A>TCA375512317KCNT1c.2303A>T (p.His768Leu)
c.2144A>T (p.His715Leu)
c.2051A>T (p.His684Leu)
c.2060A>T (p.His687Leu)
c.2204A>T (p.His735Leu)
c.*1913A>T (n.*1913A>T)
c.2186A>T (p.His729Leu)
c.2246A>T (p.His749Leu)
c.2240A>T (p.His747Leu)
n.2122A>T
c.2168A>T (p.His723Leu)
c.2138A>T (p.His713Leu)
c.152A>T (p.His51Leu)
c.2438A>T (p.His813Leu)
c.2447A>T (p.His816Leu)
c.1793A>T (p.His598Leu)
c.2237A>T (p.His746Leu)
9g.135775370C>ACA375512321KCNT1c.2304C>A (p.His768Gln)
c.2145C>A (p.His715Gln)
c.2052C>A (p.His684Gln)
c.2061C>A (p.His687Gln)
c.2205C>A (p.His735Gln)
c.*1914C>A (n.*1914C>A)
c.2187C>A (p.His729Gln)
c.2247C>A (p.His749Gln)
c.2241C>A (p.His747Gln)
n.2123C>A
c.2169C>A (p.His723Gln)
c.2139C>A (p.His713Gln)
c.153C>A (p.His51Gln)
c.2439C>A (p.His813Gln)
c.2448C>A (p.His816Gln)
c.1794C>A (p.His598Gln)
c.2238C>A (p.His746Gln)
9g.135775370C>GCA375512322KCNT1c.2304C>G (p.His768Gln)
c.2145C>G (p.His715Gln)
c.2052C>G (p.His684Gln)
c.2061C>G (p.His687Gln)
c.2205C>G (p.His735Gln)
c.*1914C>G (n.*1914C>G)
c.2187C>G (p.His729Gln)
c.2247C>G (p.His749Gln)
c.2241C>G (p.His747Gln)
n.2123C>G
c.2169C>G (p.His723Gln)
c.2139C>G (p.His713Gln)
c.153C>G (p.His51Gln)
c.2439C>G (p.His813Gln)
c.2448C>G (p.His816Gln)
c.1794C>G (p.His598Gln)
c.2238C>G (p.His746Gln)
9g.135775370C>TCA467698778KCNT1c.2304C>T (p.His768=)
c.2145C>T (p.His715=)
c.2052C>T (p.His684=)
c.2061C>T (p.His687=)
c.2205C>T (p.His735=)
c.*1914C>T (n.*1914C>T)
c.2187C>T (p.His729=)
c.2247C>T (p.His749=)
c.2241C>T (p.His747=)
n.2123C>T
c.2169C>T (p.His723=)
c.2139C>T (p.His713=)
c.153C>T (p.His51=)
c.2439C>T (p.His813=)
c.2448C>T (p.His816=)
c.1794C>T (p.His598=)
c.2238C>T (p.His746=)
9g.135775371C>ACA375512325KCNT1c.2305C>A (p.Leu769Ile)
c.2146C>A (p.Leu716Ile)
c.2053C>A (p.Leu685Ile)
c.2062C>A (p.Leu688Ile)
c.2206C>A (p.Leu736Ile)
c.*1915C>A (n.*1915C>A)
c.2188C>A (p.Leu730Ile)
c.2248C>A (p.Leu750Ile)
c.2242C>A (p.Leu748Ile)
n.2124C>A
c.2170C>A (p.Leu724Ile)
c.2140C>A (p.Leu714Ile)
c.154C>A (p.Leu52Ile)
c.2440C>A (p.Leu814Ile)
c.2449C>A (p.Leu817Ile)
c.1795C>A (p.Leu599Ile)
c.2239C>A (p.Leu747Ile)
9g.135775371C=CA1883884866KCNT1c.2305C= (p.Leu769=)
c.2146C= (p.Leu716=)
c.2053C= (p.Leu685=)
c.2062C= (p.Leu688=)
c.2206C= (p.Leu736=)
c.*1915C= (n.*1915C=)
c.2188C= (p.Leu730=)
c.2248C= (p.Leu750=)
c.2242C= (p.Leu748=)
n.2124C=
c.2170C= (p.Leu724=)
c.2140C= (p.Leu714=)
c.154C= (p.Leu52=)
c.2440C= (p.Leu814=)
c.2449C= (p.Leu817=)
c.1795C= (p.Leu599=)
c.2239C= (p.Leu747=)
9g.135775371C>GCA375512327KCNT1c.2305C>G (p.Leu769Val)
c.2146C>G (p.Leu716Val)
c.2053C>G (p.Leu685Val)
c.2062C>G (p.Leu688Val)
c.2206C>G (p.Leu736Val)
c.*1915C>G (n.*1915C>G)
c.2188C>G (p.Leu730Val)
c.2248C>G (p.Leu750Val)
c.2242C>G (p.Leu748Val)
n.2124C>G
c.2170C>G (p.Leu724Val)
c.2140C>G (p.Leu714Val)
c.154C>G (p.Leu52Val)
c.2440C>G (p.Leu814Val)
c.2449C>G (p.Leu817Val)
c.1795C>G (p.Leu599Val)
c.2239C>G (p.Leu747Val)
 dbSNP gnomAD v2 gnomAD v4
9g.135775371C>TCA375512330KCNT1c.2305C>T (p.Leu769Phe)
c.2146C>T (p.Leu716Phe)
c.2053C>T (p.Leu685Phe)
c.2062C>T (p.Leu688Phe)
c.2206C>T (p.Leu736Phe)
c.*1915C>T (n.*1915C>T)
c.2188C>T (p.Leu730Phe)
c.2248C>T (p.Leu750Phe)
c.2242C>T (p.Leu748Phe)
n.2124C>T
c.2170C>T (p.Leu724Phe)
c.2140C>T (p.Leu714Phe)
c.154C>T (p.Leu52Phe)
c.2440C>T (p.Leu814Phe)
c.2449C>T (p.Leu817Phe)
c.1795C>T (p.Leu599Phe)
c.2239C>T (p.Leu747Phe)
 ClinVar gnomAD v4
9g.135775372T>ACA375512333KCNT1c.2306T>A (p.Leu769His)
c.2147T>A (p.Leu716His)
c.2054T>A (p.Leu685His)
c.2063T>A (p.Leu688His)
c.2207T>A (p.Leu736His)
c.*1916T>A (n.*1916T>A)
c.2189T>A (p.Leu730His)
c.2249T>A (p.Leu750His)
c.2243T>A (p.Leu748His)
n.2125T>A
c.2171T>A (p.Leu724His)
c.2141T>A (p.Leu714His)
c.155T>A (p.Leu52His)
c.2441T>A (p.Leu814His)
c.2450T>A (p.Leu817His)
c.1796T>A (p.Leu599His)
c.2240T>A (p.Leu747His)
 dbSNP gnomAD v3 gnomAD v4
9g.135775372T>CCA5327255KCNT1c.2306T>C (p.Leu769Pro)
c.2147T>C (p.Leu716Pro)
c.2054T>C (p.Leu685Pro)
c.2063T>C (p.Leu688Pro)
c.2207T>C (p.Leu736Pro)
c.*1916T>C (n.*1916T>C)
c.2189T>C (p.Leu730Pro)
c.2249T>C (p.Leu750Pro)
c.2243T>C (p.Leu748Pro)
n.2125T>C
c.2171T>C (p.Leu724Pro)
c.2141T>C (p.Leu714Pro)
c.155T>C (p.Leu52Pro)
c.2441T>C (p.Leu814Pro)
c.2450T>C (p.Leu817Pro)
c.1796T>C (p.Leu599Pro)
c.2240T>C (p.Leu747Pro)
 dbSNP ExAC gnomAD v4
9g.135775372T>GCA375512337KCNT1c.2306T>G (p.Leu769Arg)
c.2147T>G (p.Leu716Arg)
c.2054T>G (p.Leu685Arg)
c.2063T>G (p.Leu688Arg)
c.2207T>G (p.Leu736Arg)
c.*1916T>G (n.*1916T>G)
c.2189T>G (p.Leu730Arg)
c.2249T>G (p.Leu750Arg)
c.2243T>G (p.Leu748Arg)
n.2125T>G
c.2171T>G (p.Leu724Arg)
c.2141T>G (p.Leu714Arg)
c.155T>G (p.Leu52Arg)
c.2441T>G (p.Leu814Arg)
c.2450T>G (p.Leu817Arg)
c.1796T>G (p.Leu599Arg)
c.2240T>G (p.Leu747Arg)
9g.135775372T=CA1883884870KCNT1c.2306T= (p.Leu769=)
c.2147T= (p.Leu716=)
c.2054T= (p.Leu685=)
c.2063T= (p.Leu688=)
c.2207T= (p.Leu736=)
c.*1916T= (n.*1916T=)
c.2189T= (p.Leu730=)
c.2249T= (p.Leu750=)
c.2243T= (p.Leu748=)
n.2125T=
c.2171T= (p.Leu724=)
c.2141T= (p.Leu714=)
c.155T= (p.Leu52=)
c.2441T= (p.Leu814=)
c.2450T= (p.Leu817=)
c.1796T= (p.Leu599=)
c.2240T= (p.Leu747=)
9g.135775373C>ACA467698782KCNT1c.2307C>A (p.Leu769=)
c.2148C>A (p.Leu716=)
c.2055C>A (p.Leu685=)
c.2064C>A (p.Leu688=)
c.2208C>A (p.Leu736=)
c.*1917C>A (n.*1917C>A)
c.2190C>A (p.Leu730=)
c.2250C>A (p.Leu750=)
c.2244C>A (p.Leu748=)
n.2126C>A
c.2172C>A (p.Leu724=)
c.2142C>A (p.Leu714=)
c.156C>A (p.Leu52=)
c.2442C>A (p.Leu814=)
c.2451C>A (p.Leu817=)
c.1797C>A (p.Leu599=)
c.2241C>A (p.Leu747=)
9g.135775373C=CA1883884891KCNT1c.2307C= (p.Leu769=)
c.2148C= (p.Leu716=)
c.2055C= (p.Leu685=)
c.2064C= (p.Leu688=)
c.2208C= (p.Leu736=)
c.*1917C= (n.*1917C=)
c.2190C= (p.Leu730=)
c.2250C= (p.Leu750=)
c.2244C= (p.Leu748=)
n.2126C=
c.2172C= (p.Leu724=)
c.2142C= (p.Leu714=)
c.156C= (p.Leu52=)
c.2442C= (p.Leu814=)
c.2451C= (p.Leu817=)
c.1797C= (p.Leu599=)
c.2241C= (p.Leu747=)
9g.135775373C>GCA467698783KCNT1c.2307C>G (p.Leu769=)
c.2148C>G (p.Leu716=)
c.2055C>G (p.Leu685=)
c.2064C>G (p.Leu688=)
c.2208C>G (p.Leu736=)
c.*1917C>G (n.*1917C>G)
c.2190C>G (p.Leu730=)
c.2250C>G (p.Leu750=)
c.2244C>G (p.Leu748=)
n.2126C>G
c.2172C>G (p.Leu724=)
c.2142C>G (p.Leu714=)
c.156C>G (p.Leu52=)
c.2442C>G (p.Leu814=)
c.2451C>G (p.Leu817=)
c.1797C>G (p.Leu599=)
c.2241C>G (p.Leu747=)
9g.135775373C>TCA467698784KCNT1c.2307C>T (p.Leu769=)
c.2148C>T (p.Leu716=)
c.2055C>T (p.Leu685=)
c.2064C>T (p.Leu688=)
c.2208C>T (p.Leu736=)
c.*1917C>T (n.*1917C>T)
c.2190C>T (p.Leu730=)
c.2250C>T (p.Leu750=)
c.2244C>T (p.Leu748=)
n.2126C>T
c.2172C>T (p.Leu724=)
c.2142C>T (p.Leu714=)
c.156C>T (p.Leu52=)
c.2442C>T (p.Leu814=)
c.2451C>T (p.Leu817=)
c.1797C>T (p.Leu599=)
c.2241C>T (p.Leu747=)
 dbSNP
9g.135775374C>ACA375512339KCNT1c.2308C>A (p.Leu770Met)
c.2149C>A (p.Leu717Met)
c.2056C>A (p.Leu686Met)
c.2065C>A (p.Leu689Met)
c.2209C>A (p.Leu737Met)
c.*1918C>A (n.*1918C>A)
c.2191C>A (p.Leu731Met)
c.2251C>A (p.Leu751Met)
c.2245C>A (p.Leu749Met)
n.2127C>A
c.2173C>A (p.Leu725Met)
c.2143C>A (p.Leu715Met)
c.157C>A (p.Leu53Met)
c.2443C>A (p.Leu815Met)
c.2452C>A (p.Leu818Met)
c.1798C>A (p.Leu600Met)
c.2242C>A (p.Leu748Met)
9g.135775374C=CA1883884897KCNT1c.2308C= (p.Leu770=)
c.2149C= (p.Leu717=)
c.2056C= (p.Leu686=)
c.2065C= (p.Leu689=)
c.2209C= (p.Leu737=)
c.*1918C= (n.*1918C=)
c.2191C= (p.Leu731=)
c.2251C= (p.Leu751=)
c.2245C= (p.Leu749=)
n.2127C=
c.2173C= (p.Leu725=)
c.2143C= (p.Leu715=)
c.157C= (p.Leu53=)
c.2443C= (p.Leu815=)
c.2452C= (p.Leu818=)
c.1798C= (p.Leu600=)
c.2242C= (p.Leu748=)
9g.135775374C>GCA375512342KCNT1c.2308C>G (p.Leu770Val)
c.2149C>G (p.Leu717Val)
c.2056C>G (p.Leu686Val)
c.2065C>G (p.Leu689Val)
c.2209C>G (p.Leu737Val)
c.*1918C>G (n.*1918C>G)
c.2191C>G (p.Leu731Val)
c.2251C>G (p.Leu751Val)
c.2245C>G (p.Leu749Val)
n.2127C>G
c.2173C>G (p.Leu725Val)
c.2143C>G (p.Leu715Val)
c.157C>G (p.Leu53Val)
c.2443C>G (p.Leu815Val)
c.2452C>G (p.Leu818Val)
c.1798C>G (p.Leu600Val)
c.2242C>G (p.Leu748Val)
9g.135775374C>TCA467698785KCNT1c.2308C>T (p.Leu770=)
c.2149C>T (p.Leu717=)
c.2056C>T (p.Leu686=)
c.2065C>T (p.Leu689=)
c.2209C>T (p.Leu737=)
c.*1918C>T (n.*1918C>T)
c.2191C>T (p.Leu731=)
c.2251C>T (p.Leu751=)
c.2245C>T (p.Leu749=)
n.2127C>T
c.2173C>T (p.Leu725=)
c.2143C>T (p.Leu715=)
c.157C>T (p.Leu53=)
c.2443C>T (p.Leu815=)
c.2452C>T (p.Leu818=)
c.1798C>T (p.Leu600=)
c.2242C>T (p.Leu748=)
 dbSNP gnomAD v2 gnomAD v4
9g.135775378_135775397dupCA1883884896KCNT1c.2312_2331dup (p.Cys778LeufsTer2)
c.2153_2172dup (p.Cys725LeufsTer2)
c.2060_2079dup (p.Cys694LeufsTer2)
c.2069_2088dup (p.Cys697LeufsTer2)
c.2213_2232dup (p.Cys745LeufsTer2)
c.*1922_*1941dup (n.*1922_*1941dup)
c.2195_2214dup (p.Cys739LeufsTer2)
c.2255_2274dup (p.Cys759LeufsTer2)
c.2249_2268dup (p.Cys757LeufsTer2)
n.2131_2150dup
c.2177_2196dup (p.Cys733LeufsTer2)
c.2147_2166dup (p.Cys723LeufsTer2)
c.161_180dup (p.Cys61LeufsTer2)
c.2447_2466dup (p.Cys823LeufsTer2)
c.2456_2475dup (p.Cys826LeufsTer2)
c.1802_1821dup (p.Cys608LeufsTer2)
c.2246_2265dup (p.Cys756LeufsTer2)
 dbSNP
9g.135775375T>ACA375512347KCNT1c.2309T>A (p.Leu770Gln)
c.2150T>A (p.Leu717Gln)
c.2057T>A (p.Leu686Gln)
c.2066T>A (p.Leu689Gln)
c.2210T>A (p.Leu737Gln)
c.*1919T>A (n.*1919T>A)
c.2192T>A (p.Leu731Gln)
c.2252T>A (p.Leu751Gln)
c.2246T>A (p.Leu749Gln)
n.2128T>A
c.2174T>A (p.Leu725Gln)
c.2144T>A (p.Leu715Gln)
c.158T>A (p.Leu53Gln)
c.2444T>A (p.Leu815Gln)
c.2453T>A (p.Leu818Gln)
c.1799T>A (p.Leu600Gln)
c.2243T>A (p.Leu748Gln)
9g.135775375T>CCA375512355KCNT1c.2309T>C (p.Leu770Pro)
c.2150T>C (p.Leu717Pro)
c.2057T>C (p.Leu686Pro)
c.2066T>C (p.Leu689Pro)
c.2210T>C (p.Leu737Pro)
c.*1919T>C (n.*1919T>C)
c.2192T>C (p.Leu731Pro)
c.2252T>C (p.Leu751Pro)
c.2246T>C (p.Leu749Pro)
n.2128T>C
c.2174T>C (p.Leu725Pro)
c.2144T>C (p.Leu715Pro)
c.158T>C (p.Leu53Pro)
c.2444T>C (p.Leu815Pro)
c.2453T>C (p.Leu818Pro)
c.1799T>C (p.Leu600Pro)
c.2243T>C (p.Leu748Pro)
9g.135775375T>GCA375512345KCNT1c.2309T>G (p.Leu770Arg)
c.2150T>G (p.Leu717Arg)
c.2057T>G (p.Leu686Arg)
c.2066T>G (p.Leu689Arg)
c.2210T>G (p.Leu737Arg)
c.*1919T>G (n.*1919T>G)
c.2192T>G (p.Leu731Arg)
c.2252T>G (p.Leu751Arg)
c.2246T>G (p.Leu749Arg)
n.2128T>G
c.2174T>G (p.Leu725Arg)
c.2144T>G (p.Leu715Arg)
c.158T>G (p.Leu53Arg)
c.2444T>G (p.Leu815Arg)
c.2453T>G (p.Leu818Arg)
c.1799T>G (p.Leu600Arg)
c.2243T>G (p.Leu748Arg)
9g.135775375_135775385delinsTGCCTGTGAAACA1883884902KCNT1c.2309_2319delinsTGCCTGTGAAA (p.Leu770=)
c.2150_2160delinsTGCCTGTGAAA (p.Leu717=)
c.2057_2067delinsTGCCTGTGAAA (p.Leu686=)
c.2066_2076delinsTGCCTGTGAAA (p.Leu689=)
c.2210_2220delinsTGCCTGTGAAA (p.Leu737=)
c.*1919_*1929delinsTGCCTGTGAAA (n.*1919_*1929delinsTGCCTGTGAAA)
c.2192_2202delinsTGCCTGTGAAA (p.Leu731=)
c.2252_2262delinsTGCCTGTGAAA (p.Leu751=)
c.2246_2256delinsTGCCTGTGAAA (p.Leu749=)
n.2128_2138delinsTGCCTGTGAAA
c.2174_2184delinsTGCCTGTGAAA (p.Leu725=)
c.2144_2154delinsTGCCTGTGAAA (p.Leu715=)
c.158_168delinsTGCCTGTGAAA (p.Leu53=)
c.2444_2454delinsTGCCTGTGAAA (p.Leu815=)
c.2453_2463delinsTGCCTGTGAAA (p.Leu818=)
c.1799_1809delinsTGCCTGTGAAA (p.Leu600=)
c.2243_2253delinsTGCCTGTGAAA (p.Leu748=)
9g.135775376G>ACA467698789KCNT1c.2310G>A (p.Leu770=)
c.2151G>A (p.Leu717=)
c.2058G>A (p.Leu686=)
c.2067G>A (p.Leu689=)
c.2211G>A (p.Leu737=)
c.*1920G>A (n.*1920G>A)
c.2193G>A (p.Leu731=)
c.2253G>A (p.Leu751=)
c.2247G>A (p.Leu749=)
n.2129G>A
c.2175G>A (p.Leu725=)
c.2145G>A (p.Leu715=)
c.159G>A (p.Leu53=)
c.2445G>A (p.Leu815=)
c.2454G>A (p.Leu818=)
c.1800G>A (p.Leu600=)
c.2244G>A (p.Leu748=)
9g.135775376G>CCA467698790KCNT1c.2310G>C (p.Leu770=)
c.2151G>C (p.Leu717=)
c.2058G>C (p.Leu686=)
c.2067G>C (p.Leu689=)
c.2211G>C (p.Leu737=)
c.*1920G>C (n.*1920G>C)
c.2193G>C (p.Leu731=)
c.2253G>C (p.Leu751=)
c.2247G>C (p.Leu749=)
n.2129G>C
c.2175G>C (p.Leu725=)
c.2145G>C (p.Leu715=)
c.159G>C (p.Leu53=)
c.2445G>C (p.Leu815=)
c.2454G>C (p.Leu818=)
c.1800G>C (p.Leu600=)
c.2244G>C (p.Leu748=)
9g.135775376G>TCA467698791KCNT1c.2310G>T (p.Leu770=)
c.2151G>T (p.Leu717=)
c.2058G>T (p.Leu686=)
c.2067G>T (p.Leu689=)
c.2211G>T (p.Leu737=)
c.*1920G>T (n.*1920G>T)
c.2193G>T (p.Leu731=)
c.2253G>T (p.Leu751=)
c.2247G>T (p.Leu749=)
n.2129G>T
c.2175G>T (p.Leu725=)
c.2145G>T (p.Leu715=)
c.159G>T (p.Leu53=)
c.2445G>T (p.Leu815=)
c.2454G>T (p.Leu818=)
c.1800G>T (p.Leu600=)
c.2244G>T (p.Leu748=)
9g.135775379_135775388delCA860991860KCNT1c.2313_2322del (p.Val772ProfsTer28)
c.2154_2163del (p.Val719ProfsTer28)
c.2061_2070del (p.Val688ProfsTer28)
c.2070_2079del (p.Val691ProfsTer28)
c.2214_2223del (p.Val739ProfsTer28)
c.*1923_*1932del (n.*1923_*1932del)
c.2196_2205del (p.Val733ProfsTer28)
c.2256_2265del (p.Val753ProfsTer28)
c.2250_2259del (p.Val751ProfsTer28)
n.2132_2141del
c.2178_2187del (p.Val727ProfsTer28)
c.2148_2157del (p.Val717ProfsTer28)
c.162_171del (p.Val55ProfsTer28)
c.2448_2457del (p.Val817ProfsTer28)
c.2457_2466del (p.Val820ProfsTer28)
c.1803_1812del (p.Val602ProfsTer28)
c.2247_2256del (p.Val750ProfsTer28)
 dbSNP gnomAD v3 gnomAD v4
9g.135775377C>ACA375512358KCNT1c.2311C>A (p.Pro771Thr)
c.2152C>A (p.Pro718Thr)
c.2059C>A (p.Pro687Thr)
c.2068C>A (p.Pro690Thr)
c.2212C>A (p.Pro738Thr)
c.*1921C>A (n.*1921C>A)
c.2194C>A (p.Pro732Thr)
c.2254C>A (p.Pro752Thr)
c.2248C>A (p.Pro750Thr)
n.2130C>A
c.2176C>A (p.Pro726Thr)
c.2146C>A (p.Pro716Thr)
c.160C>A (p.Pro54Thr)
c.2446C>A (p.Pro816Thr)
c.2455C>A (p.Pro819Thr)
c.1801C>A (p.Pro601Thr)
c.2245C>A (p.Pro749Thr)
9g.135775377C=CA1883884909KCNT1c.2311C= (p.Pro771=)
c.2152C= (p.Pro718=)
c.2059C= (p.Pro687=)
c.2068C= (p.Pro690=)
c.2212C= (p.Pro738=)
c.*1921C= (n.*1921C=)
c.2194C= (p.Pro732=)
c.2254C= (p.Pro752=)
c.2248C= (p.Pro750=)
n.2130C=
c.2176C= (p.Pro726=)
c.2146C= (p.Pro716=)
c.160C= (p.Pro54=)
c.2446C= (p.Pro816=)
c.2455C= (p.Pro819=)
c.1801C= (p.Pro601=)
c.2245C= (p.Pro749=)
9g.135775377C>GCA375512362KCNT1c.2311C>G (p.Pro771Ala)
c.2152C>G (p.Pro718Ala)
c.2059C>G (p.Pro687Ala)
c.2068C>G (p.Pro690Ala)
c.2212C>G (p.Pro738Ala)
c.*1921C>G (n.*1921C>G)
c.2194C>G (p.Pro732Ala)
c.2254C>G (p.Pro752Ala)
c.2248C>G (p.Pro750Ala)
n.2130C>G
c.2176C>G (p.Pro726Ala)
c.2146C>G (p.Pro716Ala)
c.160C>G (p.Pro54Ala)
c.2446C>G (p.Pro816Ala)
c.2455C>G (p.Pro819Ala)
c.1801C>G (p.Pro601Ala)
c.2245C>G (p.Pro749Ala)
9g.135775377C>TCA375512360KCNT1c.2311C>T (p.Pro771Ser)
c.2152C>T (p.Pro718Ser)
c.2059C>T (p.Pro687Ser)
c.2068C>T (p.Pro690Ser)
c.2212C>T (p.Pro738Ser)
c.*1921C>T (n.*1921C>T)
c.2194C>T (p.Pro732Ser)
c.2254C>T (p.Pro752Ser)
c.2248C>T (p.Pro750Ser)
n.2130C>T
c.2176C>T (p.Pro726Ser)
c.2146C>T (p.Pro716Ser)
c.160C>T (p.Pro54Ser)
c.2446C>T (p.Pro816Ser)
c.2455C>T (p.Pro819Ser)
c.1801C>T (p.Pro601Ser)
c.2245C>T (p.Pro749Ser)
 dbSNP
9g.135775378C>ACA375512365KCNT1c.2312C>A (p.Pro771His)
c.2153C>A (p.Pro718His)
c.2060C>A (p.Pro687His)
c.2069C>A (p.Pro690His)
c.2213C>A (p.Pro738His)
c.*1922C>A (n.*1922C>A)
c.2195C>A (p.Pro732His)
c.2255C>A (p.Pro752His)
c.2249C>A (p.Pro750His)
n.2131C>A
c.2177C>A (p.Pro726His)
c.2147C>A (p.Pro716His)
c.161C>A (p.Pro54His)
c.2447C>A (p.Pro816His)
c.2456C>A (p.Pro819His)
c.1802C>A (p.Pro601His)
c.2246C>A (p.Pro749His)
9g.135775378C=CA1883884913KCNT1c.2312C= (p.Pro771=)
c.2153C= (p.Pro718=)
c.2060C= (p.Pro687=)
c.2069C= (p.Pro690=)
c.2213C= (p.Pro738=)
c.*1922C= (n.*1922C=)
c.2195C= (p.Pro732=)
c.2255C= (p.Pro752=)
c.2249C= (p.Pro750=)
n.2131C=
c.2177C= (p.Pro726=)
c.2147C= (p.Pro716=)
c.161C= (p.Pro54=)
c.2447C= (p.Pro816=)
c.2456C= (p.Pro819=)
c.1802C= (p.Pro601=)
c.2246C= (p.Pro749=)
9g.135775378C>GCA375512367KCNT1c.2312C>G (p.Pro771Arg)
c.2153C>G (p.Pro718Arg)
c.2060C>G (p.Pro687Arg)
c.2069C>G (p.Pro690Arg)
c.2213C>G (p.Pro738Arg)
c.*1922C>G (n.*1922C>G)
c.2195C>G (p.Pro732Arg)
c.2255C>G (p.Pro752Arg)
c.2249C>G (p.Pro750Arg)
n.2131C>G
c.2177C>G (p.Pro726Arg)
c.2147C>G (p.Pro716Arg)
c.161C>G (p.Pro54Arg)
c.2447C>G (p.Pro816Arg)
c.2456C>G (p.Pro819Arg)
c.1802C>G (p.Pro601Arg)
c.2246C>G (p.Pro749Arg)
9g.135775378C>TCA375512366KCNT1c.2312C>T (p.Pro771Leu)
c.2153C>T (p.Pro718Leu)
c.2060C>T (p.Pro687Leu)
c.2069C>T (p.Pro690Leu)
c.2213C>T (p.Pro738Leu)
c.*1922C>T (n.*1922C>T)
c.2195C>T (p.Pro732Leu)
c.2255C>T (p.Pro752Leu)
c.2249C>T (p.Pro750Leu)
n.2131C>T
c.2177C>T (p.Pro726Leu)
c.2147C>T (p.Pro716Leu)
c.161C>T (p.Pro54Leu)
c.2447C>T (p.Pro816Leu)
c.2456C>T (p.Pro819Leu)
c.1802C>T (p.Pro601Leu)
c.2246C>T (p.Pro749Leu)
 dbSNP gnomAD v4
9g.135775379T>ACA467698793KCNT1c.2313T>A (p.Pro771=)
c.2154T>A (p.Pro718=)
c.2061T>A (p.Pro687=)
c.2070T>A (p.Pro690=)
c.2214T>A (p.Pro738=)
c.*1923T>A (n.*1923T>A)
c.2196T>A (p.Pro732=)
c.2256T>A (p.Pro752=)
c.2250T>A (p.Pro750=)
n.2132T>A
c.2178T>A (p.Pro726=)
c.2148T>A (p.Pro716=)
c.162T>A (p.Pro54=)
c.2448T>A (p.Pro816=)
c.2457T>A (p.Pro819=)
c.1803T>A (p.Pro601=)
c.2247T>A (p.Pro749=)
9g.135775379T>CCA467698794KCNT1c.2313T>C (p.Pro771=)
c.2154T>C (p.Pro718=)
c.2061T>C (p.Pro687=)
c.2070T>C (p.Pro690=)
c.2214T>C (p.Pro738=)
c.*1923T>C (n.*1923T>C)
c.2196T>C (p.Pro732=)
c.2256T>C (p.Pro752=)
c.2250T>C (p.Pro750=)
n.2132T>C
c.2178T>C (p.Pro726=)
c.2148T>C (p.Pro716=)
c.162T>C (p.Pro54=)
c.2448T>C (p.Pro816=)
c.2457T>C (p.Pro819=)
c.1803T>C (p.Pro601=)
c.2247T>C (p.Pro749=)
9g.135775379T>GCA467698795KCNT1c.2313T>G (p.Pro771=)
c.2154T>G (p.Pro718=)
c.2061T>G (p.Pro687=)
c.2070T>G (p.Pro690=)
c.2214T>G (p.Pro738=)
c.*1923T>G (n.*1923T>G)
c.2196T>G (p.Pro732=)
c.2256T>G (p.Pro752=)
c.2250T>G (p.Pro750=)
n.2132T>G
c.2178T>G (p.Pro726=)
c.2148T>G (p.Pro716=)
c.162T>G (p.Pro54=)
c.2448T>G (p.Pro816=)
c.2457T>G (p.Pro819=)
c.1803T>G (p.Pro601=)
c.2247T>G (p.Pro749=)
9g.135775381_135775382delCA2579511270KCNT1c.2315_2316del (p.Val772GlufsTer19)
c.2156_2157del (p.Val719GlufsTer19)
c.2063_2064del (p.Val688GlufsTer19)
c.2072_2073del (p.Val691GlufsTer19)
c.2216_2217del (p.Val739GlufsTer19)
c.*1925_*1926del (n.*1925_*1926del)
c.2198_2199del (p.Val733GlufsTer19)
c.2258_2259del (p.Val753GlufsTer19)
c.2252_2253del (p.Val751GlufsTer19)
n.2134_2135del
c.2180_2181del (p.Val727GlufsTer19)
c.2150_2151del (p.Val717GlufsTer19)
c.164_165del (p.Val55GlufsTer19)
c.2450_2451del (p.Val817GlufsTer19)
c.2459_2460del (p.Val820GlufsTer19)
c.1805_1806del (p.Val602GlufsTer19)
c.2249_2250del (p.Val750GlufsTer19)
9g.135775380G>ACA375512369KCNT1c.2314G>A (p.Val772Met)
c.2155G>A (p.Val719Met)
c.2062G>A (p.Val688Met)
c.2071G>A (p.Val691Met)
c.2215G>A (p.Val739Met)
c.*1924G>A (n.*1924G>A)
c.2197G>A (p.Val733Met)
c.2257G>A (p.Val753Met)
c.2251G>A (p.Val751Met)
n.2133G>A
c.2179G>A (p.Val727Met)
c.2149G>A (p.Val717Met)
c.163G>A (p.Val55Met)
c.2449G>A (p.Val817Met)
c.2458G>A (p.Val820Met)
c.1804G>A (p.Val602Met)
c.2248G>A (p.Val750Met)
 gnomAD v4
9g.135775380G>CCA375512371KCNT1c.2314G>C (p.Val772Leu)
c.2155G>C (p.Val719Leu)
c.2062G>C (p.Val688Leu)
c.2071G>C (p.Val691Leu)
c.2215G>C (p.Val739Leu)
c.*1924G>C (n.*1924G>C)
c.2197G>C (p.Val733Leu)
c.2257G>C (p.Val753Leu)
c.2251G>C (p.Val751Leu)
n.2133G>C
c.2179G>C (p.Val727Leu)
c.2149G>C (p.Val717Leu)
c.163G>C (p.Val55Leu)
c.2449G>C (p.Val817Leu)
c.2458G>C (p.Val820Leu)
c.1804G>C (p.Val602Leu)
c.2248G>C (p.Val750Leu)
9g.135775380G>TCA375512375KCNT1c.2314G>T (p.Val772Leu)
c.2155G>T (p.Val719Leu)
c.2062G>T (p.Val688Leu)
c.2071G>T (p.Val691Leu)
c.2215G>T (p.Val739Leu)
c.*1924G>T (n.*1924G>T)
c.2197G>T (p.Val733Leu)
c.2257G>T (p.Val753Leu)
c.2251G>T (p.Val751Leu)
n.2133G>T
c.2179G>T (p.Val727Leu)
c.2149G>T (p.Val717Leu)
c.163G>T (p.Val55Leu)
c.2449G>T (p.Val817Leu)
c.2458G>T (p.Val820Leu)
c.1804G>T (p.Val602Leu)
c.2248G>T (p.Val750Leu)
 gnomAD v4
9g.135775381T>ACA375512377KCNT1c.2315T>A (p.Val772Glu)
c.2156T>A (p.Val719Glu)
c.2063T>A (p.Val688Glu)
c.2072T>A (p.Val691Glu)
c.2216T>A (p.Val739Glu)
c.*1925T>A (n.*1925T>A)
c.2198T>A (p.Val733Glu)
c.2258T>A (p.Val753Glu)
c.2252T>A (p.Val751Glu)
n.2134T>A
c.2180T>A (p.Val727Glu)
c.2150T>A (p.Val717Glu)
c.164T>A (p.Val55Glu)
c.2450T>A (p.Val817Glu)
c.2459T>A (p.Val820Glu)
c.1805T>A (p.Val602Glu)
c.2249T>A (p.Val750Glu)
9g.135775381T>CCA375512379KCNT1c.2315T>C (p.Val772Ala)
c.2156T>C (p.Val719Ala)
c.2063T>C (p.Val688Ala)
c.2072T>C (p.Val691Ala)
c.2216T>C (p.Val739Ala)
c.*1925T>C (n.*1925T>C)
c.2198T>C (p.Val733Ala)
c.2258T>C (p.Val753Ala)
c.2252T>C (p.Val751Ala)
n.2134T>C
c.2180T>C (p.Val727Ala)
c.2150T>C (p.Val717Ala)
c.164T>C (p.Val55Ala)
c.2450T>C (p.Val817Ala)
c.2459T>C (p.Val820Ala)
c.1805T>C (p.Val602Ala)
c.2249T>C (p.Val750Ala)
9g.135775381T>GCA375512381KCNT1c.2315T>G (p.Val772Gly)
c.2156T>G (p.Val719Gly)
c.2063T>G (p.Val688Gly)
c.2072T>G (p.Val691Gly)
c.2216T>G (p.Val739Gly)
c.*1925T>G (n.*1925T>G)
c.2198T>G (p.Val733Gly)
c.2258T>G (p.Val753Gly)
c.2252T>G (p.Val751Gly)
n.2134T>G
c.2180T>G (p.Val727Gly)
c.2150T>G (p.Val717Gly)
c.164T>G (p.Val55Gly)
c.2450T>G (p.Val817Gly)
c.2459T>G (p.Val820Gly)
c.1805T>G (p.Val602Gly)
c.2249T>G (p.Val750Gly)
9g.135775382G>ACA467698801KCNT1c.2316G>A (p.Val772=)
c.2157G>A (p.Val719=)
c.2064G>A (p.Val688=)
c.2073G>A (p.Val691=)
c.2217G>A (p.Val739=)
c.*1926G>A (n.*1926G>A)
c.2199G>A (p.Val733=)
c.2259G>A (p.Val753=)
c.2253G>A (p.Val751=)
n.2135G>A
c.2181G>A (p.Val727=)
c.2151G>A (p.Val717=)
c.165G>A (p.Val55=)
c.2451G>A (p.Val817=)
c.2460G>A (p.Val820=)
c.1806G>A (p.Val602=)
c.2250G>A (p.Val750=)
9g.135775382G>CCA467698800KCNT1c.2316G>C (p.Val772=)
c.2157G>C (p.Val719=)
c.2064G>C (p.Val688=)
c.2073G>C (p.Val691=)
c.2217G>C (p.Val739=)
c.*1926G>C (n.*1926G>C)
c.2199G>C (p.Val733=)
c.2259G>C (p.Val753=)
c.2253G>C (p.Val751=)
n.2135G>C
c.2181G>C (p.Val727=)
c.2151G>C (p.Val717=)
c.165G>C (p.Val55=)
c.2451G>C (p.Val817=)
c.2460G>C (p.Val820=)
c.1806G>C (p.Val602=)
c.2250G>C (p.Val750=)
9g.135775382G>TCA467698799KCNT1c.2316G>T (p.Val772=)
c.2157G>T (p.Val719=)
c.2064G>T (p.Val688=)
c.2073G>T (p.Val691=)
c.2217G>T (p.Val739=)
c.*1926G>T (n.*1926G>T)
c.2199G>T (p.Val733=)
c.2259G>T (p.Val753=)
c.2253G>T (p.Val751=)
n.2135G>T
c.2181G>T (p.Val727=)
c.2151G>T (p.Val717=)
c.165G>T (p.Val55=)
c.2451G>T (p.Val817=)
c.2460G>T (p.Val820=)
c.1806G>T (p.Val602=)
c.2250G>T (p.Val750=)
9g.135775383A>CCA375512384KCNT1c.2317A>C (p.Lys773Gln)
c.2158A>C (p.Lys720Gln)
c.2065A>C (p.Lys689Gln)
c.2074A>C (p.Lys692Gln)
c.2218A>C (p.Lys740Gln)
c.*1927A>C (n.*1927A>C)
c.2200A>C (p.Lys734Gln)
c.2260A>C (p.Lys754Gln)
c.2254A>C (p.Lys752Gln)
n.2136A>C
c.2182A>C (p.Lys728Gln)
c.2152A>C (p.Lys718Gln)
c.166A>C (p.Lys56Gln)
c.2452A>C (p.Lys818Gln)
c.2461A>C (p.Lys821Gln)
c.1807A>C (p.Lys603Gln)
c.2251A>C (p.Lys751Gln)
9g.135775383A>GCA375512386KCNT1c.2317A>G (p.Lys773Glu)
c.2158A>G (p.Lys720Glu)
c.2065A>G (p.Lys689Glu)
c.2074A>G (p.Lys692Glu)
c.2218A>G (p.Lys740Glu)
c.*1927A>G (n.*1927A>G)
c.2200A>G (p.Lys734Glu)
c.2260A>G (p.Lys754Glu)
c.2254A>G (p.Lys752Glu)
n.2136A>G
c.2182A>G (p.Lys728Glu)
c.2152A>G (p.Lys718Glu)
c.166A>G (p.Lys56Glu)
c.2452A>G (p.Lys818Glu)
c.2461A>G (p.Lys821Glu)
c.1807A>G (p.Lys603Glu)
c.2251A>G (p.Lys751Glu)
 ClinVar
9g.135775383A>TCA375512392KCNT1c.2317A>T (p.Lys773Ter)
c.2158A>T (p.Lys720Ter)
c.2065A>T (p.Lys689Ter)
c.2074A>T (p.Lys692Ter)
c.2218A>T (p.Lys740Ter)
c.*1927A>T (n.*1927A>T)
c.2200A>T (p.Lys734Ter)
c.2260A>T (p.Lys754Ter)
c.2254A>T (p.Lys752Ter)
n.2136A>T
c.2182A>T (p.Lys728Ter)
c.2152A>T (p.Lys718Ter)
c.166A>T (p.Lys56Ter)
c.2452A>T (p.Lys818Ter)
c.2461A>T (p.Lys821Ter)
c.1807A>T (p.Lys603Ter)
c.2251A>T (p.Lys751Ter)
9g.135775384A=CA1883884916KCNT1c.2318A= (p.Lys773=)
c.2159A= (p.Lys720=)
c.2066A= (p.Lys689=)
c.2075A= (p.Lys692=)
c.2219A= (p.Lys740=)
c.*1928A= (n.*1928A=)
c.2201A= (p.Lys734=)
c.2261A= (p.Lys754=)
c.2255A= (p.Lys752=)
n.2137A=
c.2183A= (p.Lys728=)
c.2153A= (p.Lys718=)
c.167A= (p.Lys56=)
c.2453A= (p.Lys818=)
c.2462A= (p.Lys821=)
c.1808A= (p.Lys603=)
c.2252A= (p.Lys751=)
9g.135775384A>CCA375512395KCNT1c.2318A>C (p.Lys773Thr)
c.2159A>C (p.Lys720Thr)
c.2066A>C (p.Lys689Thr)
c.2075A>C (p.Lys692Thr)
c.2219A>C (p.Lys740Thr)
c.*1928A>C (n.*1928A>C)
c.2201A>C (p.Lys734Thr)
c.2261A>C (p.Lys754Thr)
c.2255A>C (p.Lys752Thr)
n.2137A>C
c.2183A>C (p.Lys728Thr)
c.2153A>C (p.Lys718Thr)
c.167A>C (p.Lys56Thr)
c.2453A>C (p.Lys818Thr)
c.2462A>C (p.Lys821Thr)
c.1808A>C (p.Lys603Thr)
c.2252A>C (p.Lys751Thr)
9g.135775384A>GCA375512396KCNT1c.2318A>G (p.Lys773Arg)
c.2159A>G (p.Lys720Arg)
c.2066A>G (p.Lys689Arg)
c.2075A>G (p.Lys692Arg)
c.2219A>G (p.Lys740Arg)
c.*1928A>G (n.*1928A>G)
c.2201A>G (p.Lys734Arg)
c.2261A>G (p.Lys754Arg)
c.2255A>G (p.Lys752Arg)
n.2137A>G
c.2183A>G (p.Lys728Arg)
c.2153A>G (p.Lys718Arg)
c.167A>G (p.Lys56Arg)
c.2453A>G (p.Lys818Arg)
c.2462A>G (p.Lys821Arg)
c.1808A>G (p.Lys603Arg)
c.2252A>G (p.Lys751Arg)
9g.135775384A>TCA375512398KCNT1c.2318A>T (p.Lys773Ile)
c.2159A>T (p.Lys720Ile)
c.2066A>T (p.Lys689Ile)
c.2075A>T (p.Lys692Ile)
c.2219A>T (p.Lys740Ile)
c.*1928A>T (n.*1928A>T)
c.2201A>T (p.Lys734Ile)
c.2261A>T (p.Lys754Ile)
c.2255A>T (p.Lys752Ile)
n.2137A>T
c.2183A>T (p.Lys728Ile)
c.2153A>T (p.Lys718Ile)
c.167A>T (p.Lys56Ile)
c.2453A>T (p.Lys818Ile)
c.2462A>T (p.Lys821Ile)
c.1808A>T (p.Lys603Ile)
c.2252A>T (p.Lys751Ile)
9g.135775385A>CCA375512404KCNT1c.2319A>C (p.Lys773Asn)
c.2160A>C (p.Lys720Asn)
c.2067A>C (p.Lys689Asn)
c.2076A>C (p.Lys692Asn)
c.2220A>C (p.Lys740Asn)
c.*1929A>C (n.*1929A>C)
c.2202A>C (p.Lys734Asn)
c.2262A>C (p.Lys754Asn)
c.2256A>C (p.Lys752Asn)
n.2138A>C
c.2184A>C (p.Lys728Asn)
c.2154A>C (p.Lys718Asn)
c.168A>C (p.Lys56Asn)
c.2454A>C (p.Lys818Asn)
c.2463A>C (p.Lys821Asn)
c.1809A>C (p.Lys603Asn)
c.2253A>C (p.Lys751Asn)
9g.135775385A>GCA467698803KCNT1c.2319A>G (p.Lys773=)
c.2160A>G (p.Lys720=)
c.2067A>G (p.Lys689=)
c.2076A>G (p.Lys692=)
c.2220A>G (p.Lys740=)
c.*1929A>G (n.*1929A>G)
c.2202A>G (p.Lys734=)
c.2262A>G (p.Lys754=)
c.2256A>G (p.Lys752=)
n.2138A>G
c.2184A>G (p.Lys728=)
c.2154A>G (p.Lys718=)
c.168A>G (p.Lys56=)
c.2454A>G (p.Lys818=)
c.2463A>G (p.Lys821=)
c.1809A>G (p.Lys603=)
c.2253A>G (p.Lys751=)
9g.135775385A>TCA375512402KCNT1c.2319A>T (p.Lys773Asn)
c.2160A>T (p.Lys720Asn)
c.2067A>T (p.Lys689Asn)
c.2076A>T (p.Lys692Asn)
c.2220A>T (p.Lys740Asn)
c.*1929A>T (n.*1929A>T)
c.2202A>T (p.Lys734Asn)
c.2262A>T (p.Lys754Asn)
c.2256A>T (p.Lys752Asn)
n.2138A>T
c.2184A>T (p.Lys728Asn)
c.2154A>T (p.Lys718Asn)
c.168A>T (p.Lys56Asn)
c.2454A>T (p.Lys818Asn)
c.2463A>T (p.Lys821Asn)
c.1809A>T (p.Lys603Asn)
c.2253A>T (p.Lys751Asn)
9g.135775385_135775407dupCA5327256KCNT1c.2319_2341dup (p.Leu781GlnfsTer30)
c.2160_2182dup (p.Leu728GlnfsTer30)
c.2067_2089dup (p.Leu697GlnfsTer30)
c.2076_2098dup (p.Leu700GlnfsTer30)
c.2220_2242dup (p.Leu748GlnfsTer30)
c.*1929_*1951dup (n.*1929_*1951dup)
c.2202_2224dup (p.Leu742GlnfsTer30)
c.2262_2284dup (p.Leu762GlnfsTer30)
c.2256_2278dup (p.Leu760GlnfsTer30)
n.2138_2160dup
c.2184_2206dup (p.Leu736GlnfsTer30)
c.2154_2176dup (p.Leu726GlnfsTer30)
c.168_190dup (p.Leu64GlnfsTer30)
c.2454_2476dup (p.Leu826GlnfsTer30)
c.2463_2485dup (p.Leu829GlnfsTer30)
c.1809_1831dup (p.Leu611GlnfsTer30)
c.2253_2275dup (p.Leu759GlnfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775386G>ACA375512416KCNT1c.2320G>A (p.Ala774Thr)
c.2161G>A (p.Ala721Thr)
c.2068G>A (p.Ala690Thr)
c.2077G>A (p.Ala693Thr)
c.2221G>A (p.Ala741Thr)
c.*1930G>A (n.*1930G>A)
c.2203G>A (p.Ala735Thr)
c.2263G>A (p.Ala755Thr)
c.2257G>A (p.Ala753Thr)
n.2139G>A
c.2185G>A (p.Ala729Thr)
c.2155G>A (p.Ala719Thr)
c.169G>A (p.Ala57Thr)
c.2455G>A (p.Ala819Thr)
c.2464G>A (p.Ala822Thr)
c.1810G>A (p.Ala604Thr)
c.2254G>A (p.Ala752Thr)
9g.135775386G>CCA375512429KCNT1c.2320G>C (p.Ala774Pro)
c.2161G>C (p.Ala721Pro)
c.2068G>C (p.Ala690Pro)
c.2077G>C (p.Ala693Pro)
c.2221G>C (p.Ala741Pro)
c.*1930G>C (n.*1930G>C)
c.2203G>C (p.Ala735Pro)
c.2263G>C (p.Ala755Pro)
c.2257G>C (p.Ala753Pro)
n.2139G>C
c.2185G>C (p.Ala729Pro)
c.2155G>C (p.Ala719Pro)
c.169G>C (p.Ala57Pro)
c.2455G>C (p.Ala819Pro)
c.2464G>C (p.Ala822Pro)
c.1810G>C (p.Ala604Pro)
c.2254G>C (p.Ala752Pro)
 dbSNP
9g.135775386G=CA1883884926KCNT1c.2320G= (p.Ala774=)
c.2161G= (p.Ala721=)
c.2068G= (p.Ala690=)
c.2077G= (p.Ala693=)
c.2221G= (p.Ala741=)
c.*1930G= (n.*1930G=)
c.2203G= (p.Ala735=)
c.2263G= (p.Ala755=)
c.2257G= (p.Ala753=)
n.2139G=
c.2185G= (p.Ala729=)
c.2155G= (p.Ala719=)
c.169G= (p.Ala57=)
c.2455G= (p.Ala819=)
c.2464G= (p.Ala822=)
c.1810G= (p.Ala604=)
c.2254G= (p.Ala752=)
9g.135775386G>TCA375512430KCNT1c.2320G>T (p.Ala774Ser)
c.2161G>T (p.Ala721Ser)
c.2068G>T (p.Ala690Ser)
c.2077G>T (p.Ala693Ser)
c.2221G>T (p.Ala741Ser)
c.*1930G>T (n.*1930G>T)
c.2203G>T (p.Ala735Ser)
c.2263G>T (p.Ala755Ser)
c.2257G>T (p.Ala753Ser)
n.2139G>T
c.2185G>T (p.Ala729Ser)
c.2155G>T (p.Ala719Ser)
c.169G>T (p.Ala57Ser)
c.2455G>T (p.Ala819Ser)
c.2464G>T (p.Ala822Ser)
c.1810G>T (p.Ala604Ser)
c.2254G>T (p.Ala752Ser)
9g.135775387C>ACA375512432KCNT1c.2321C>A (p.Ala774Asp)
c.2162C>A (p.Ala721Asp)
c.2069C>A (p.Ala690Asp)
c.2078C>A (p.Ala693Asp)
c.2222C>A (p.Ala741Asp)
c.*1931C>A (n.*1931C>A)
c.2204C>A (p.Ala735Asp)
c.2264C>A (p.Ala755Asp)
c.2258C>A (p.Ala753Asp)
n.2140C>A
c.2186C>A (p.Ala729Asp)
c.2156C>A (p.Ala719Asp)
c.170C>A (p.Ala57Asp)
c.2456C>A (p.Ala819Asp)
c.2465C>A (p.Ala822Asp)
c.1811C>A (p.Ala604Asp)
c.2255C>A (p.Ala752Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.135775387C=CA1883884934KCNT1c.2321C= (p.Ala774=)
c.2162C= (p.Ala721=)
c.2069C= (p.Ala690=)
c.2078C= (p.Ala693=)
c.2222C= (p.Ala741=)
c.*1931C= (n.*1931C=)
c.2204C= (p.Ala735=)
c.2264C= (p.Ala755=)
c.2258C= (p.Ala753=)
n.2140C=
c.2186C= (p.Ala729=)
c.2156C= (p.Ala719=)
c.170C= (p.Ala57=)
c.2456C= (p.Ala819=)
c.2465C= (p.Ala822=)
c.1811C= (p.Ala604=)
c.2255C= (p.Ala752=)
9g.135775387C>GCA375512435KCNT1c.2321C>G (p.Ala774Gly)
c.2162C>G (p.Ala721Gly)
c.2069C>G (p.Ala690Gly)
c.2078C>G (p.Ala693Gly)
c.2222C>G (p.Ala741Gly)
c.*1931C>G (n.*1931C>G)
c.2204C>G (p.Ala735Gly)
c.2264C>G (p.Ala755Gly)
c.2258C>G (p.Ala753Gly)
n.2140C>G
c.2186C>G (p.Ala729Gly)
c.2156C>G (p.Ala719Gly)
c.170C>G (p.Ala57Gly)
c.2456C>G (p.Ala819Gly)
c.2465C>G (p.Ala822Gly)
c.1811C>G (p.Ala604Gly)
c.2255C>G (p.Ala752Gly)
9g.135775387C>TCA5327257KCNT1c.2321C>T (p.Ala774Val)
c.2162C>T (p.Ala721Val)
c.2069C>T (p.Ala690Val)
c.2078C>T (p.Ala693Val)
c.2222C>T (p.Ala741Val)
c.*1931C>T (n.*1931C>T)
c.2204C>T (p.Ala735Val)
c.2264C>T (p.Ala755Val)
c.2258C>T (p.Ala753Val)
n.2140C>T
c.2186C>T (p.Ala729Val)
c.2156C>T (p.Ala719Val)
c.170C>T (p.Ala57Val)
c.2456C>T (p.Ala819Val)
c.2465C>T (p.Ala822Val)
c.1811C>T (p.Ala604Val)
c.2255C>T (p.Ala752Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775391dupCA1883884932KCNT1c.2325dup (p.Phe776LeufsTer16)
c.2166dup (p.Phe723LeufsTer16)
c.2073dup (p.Phe692LeufsTer16)
c.2082dup (p.Phe695LeufsTer16)
c.2226dup (p.Phe743LeufsTer16)
c.*1935dup (n.*1935dup)
c.2208dup (p.Phe737LeufsTer16)
c.2268dup (p.Phe757LeufsTer16)
c.2262dup (p.Phe755LeufsTer16)
n.2144dup
c.2190dup (p.Phe731LeufsTer16)
c.2160dup (p.Phe721LeufsTer16)
c.174dup (p.Phe59LeufsTer16)
c.2460dup (p.Phe821LeufsTer16)
c.2469dup (p.Phe824LeufsTer16)
c.1815dup (p.Phe606LeufsTer16)
c.2259dup (p.Phe754LeufsTer16)
 dbSNP
9g.135775388C>ACA467698805KCNT1c.2322C>A (p.Ala774=)
c.2163C>A (p.Ala721=)
c.2070C>A (p.Ala690=)
c.2079C>A (p.Ala693=)
c.2223C>A (p.Ala741=)
c.*1932C>A (n.*1932C>A)
c.2205C>A (p.Ala735=)
c.2265C>A (p.Ala755=)
c.2259C>A (p.Ala753=)
n.2141C>A
c.2187C>A (p.Ala729=)
c.2157C>A (p.Ala719=)
c.171C>A (p.Ala57=)
c.2457C>A (p.Ala819=)
c.2466C>A (p.Ala822=)
c.1812C>A (p.Ala604=)
c.2256C>A (p.Ala752=)
9g.135775388C=CA1883884940KCNT1c.2322C= (p.Ala774=)
c.2163C= (p.Ala721=)
c.2070C= (p.Ala690=)
c.2079C= (p.Ala693=)
c.2223C= (p.Ala741=)
c.*1932C= (n.*1932C=)
c.2205C= (p.Ala735=)
c.2265C= (p.Ala755=)
c.2259C= (p.Ala753=)
n.2141C=
c.2187C= (p.Ala729=)
c.2157C= (p.Ala719=)
c.171C= (p.Ala57=)
c.2457C= (p.Ala819=)
c.2466C= (p.Ala822=)
c.1812C= (p.Ala604=)
c.2256C= (p.Ala752=)
9g.135775388C>GCA467698806KCNT1c.2322C>G (p.Ala774=)
c.2163C>G (p.Ala721=)
c.2070C>G (p.Ala690=)
c.2079C>G (p.Ala693=)
c.2223C>G (p.Ala741=)
c.*1932C>G (n.*1932C>G)
c.2205C>G (p.Ala735=)
c.2265C>G (p.Ala755=)
c.2259C>G (p.Ala753=)
n.2141C>G
c.2187C>G (p.Ala729=)
c.2157C>G (p.Ala719=)
c.171C>G (p.Ala57=)
c.2457C>G (p.Ala819=)
c.2466C>G (p.Ala822=)
c.1812C>G (p.Ala604=)
c.2256C>G (p.Ala752=)
9g.135775388C>TCA467698807KCNT1c.2322C>T (p.Ala774=)
c.2163C>T (p.Ala721=)
c.2070C>T (p.Ala690=)
c.2079C>T (p.Ala693=)
c.2223C>T (p.Ala741=)
c.*1932C>T (n.*1932C>T)
c.2205C>T (p.Ala735=)
c.2265C>T (p.Ala755=)
c.2259C>T (p.Ala753=)
n.2141C>T
c.2187C>T (p.Ala729=)
c.2157C>T (p.Ala719=)
c.171C>T (p.Ala57=)
c.2457C>T (p.Ala819=)
c.2466C>T (p.Ala822=)
c.1812C>T (p.Ala604=)
c.2256C>T (p.Ala752=)
 dbSNP gnomAD v4
9g.135775389C>ACA375512436KCNT1c.2323C>A (p.Pro775Thr)
c.2164C>A (p.Pro722Thr)
c.2071C>A (p.Pro691Thr)
c.2080C>A (p.Pro694Thr)
c.2224C>A (p.Pro742Thr)
c.*1933C>A (n.*1933C>A)
c.2206C>A (p.Pro736Thr)
c.2266C>A (p.Pro756Thr)
c.2260C>A (p.Pro754Thr)
n.2142C>A
c.2188C>A (p.Pro730Thr)
c.2158C>A (p.Pro720Thr)
c.172C>A (p.Pro58Thr)
c.2458C>A (p.Pro820Thr)
c.2467C>A (p.Pro823Thr)
c.1813C>A (p.Pro605Thr)
c.2257C>A (p.Pro753Thr)
 gnomAD v4
9g.135775389C=CA1883884945KCNT1c.2323C= (p.Pro775=)
c.2164C= (p.Pro722=)
c.2071C= (p.Pro691=)
c.2080C= (p.Pro694=)
c.2224C= (p.Pro742=)
c.*1933C= (n.*1933C=)
c.2206C= (p.Pro736=)
c.2266C= (p.Pro756=)
c.2260C= (p.Pro754=)
n.2142C=
c.2188C= (p.Pro730=)
c.2158C= (p.Pro720=)
c.172C= (p.Pro58=)
c.2458C= (p.Pro820=)
c.2467C= (p.Pro823=)
c.1813C= (p.Pro605=)
c.2257C= (p.Pro753=)
9g.135775389C>GCA5327258KCNT1c.2323C>G (p.Pro775Ala)
c.2164C>G (p.Pro722Ala)
c.2071C>G (p.Pro691Ala)
c.2080C>G (p.Pro694Ala)
c.2224C>G (p.Pro742Ala)
c.*1933C>G (n.*1933C>G)
c.2206C>G (p.Pro736Ala)
c.2266C>G (p.Pro756Ala)
c.2260C>G (p.Pro754Ala)
n.2142C>G
c.2188C>G (p.Pro730Ala)
c.2158C>G (p.Pro720Ala)
c.172C>G (p.Pro58Ala)
c.2458C>G (p.Pro820Ala)
c.2467C>G (p.Pro823Ala)
c.1813C>G (p.Pro605Ala)
c.2257C>G (p.Pro753Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775389C>TCA375512438KCNT1c.2323C>T (p.Pro775Ser)
c.2164C>T (p.Pro722Ser)
c.2071C>T (p.Pro691Ser)
c.2080C>T (p.Pro694Ser)
c.2224C>T (p.Pro742Ser)
c.*1933C>T (n.*1933C>T)
c.2206C>T (p.Pro736Ser)
c.2266C>T (p.Pro756Ser)
c.2260C>T (p.Pro754Ser)
n.2142C>T
c.2188C>T (p.Pro730Ser)
c.2158C>T (p.Pro720Ser)
c.172C>T (p.Pro58Ser)
c.2458C>T (p.Pro820Ser)
c.2467C>T (p.Pro823Ser)
c.1813C>T (p.Pro605Ser)
c.2257C>T (p.Pro753Ser)
9g.135775390C>ACA375512445KCNT1c.2324C>A (p.Pro775His)
c.2165C>A (p.Pro722His)
c.2072C>A (p.Pro691His)
c.2081C>A (p.Pro694His)
c.2225C>A (p.Pro742His)
c.*1934C>A (n.*1934C>A)
c.2207C>A (p.Pro736His)
c.2267C>A (p.Pro756His)
c.2261C>A (p.Pro754His)
n.2143C>A
c.2189C>A (p.Pro730His)
c.2159C>A (p.Pro720His)
c.173C>A (p.Pro58His)
c.2459C>A (p.Pro820His)
c.2468C>A (p.Pro823His)
c.1814C>A (p.Pro605His)
c.2258C>A (p.Pro753His)
9g.135775390C>GCA375512443KCNT1c.2324C>G (p.Pro775Arg)
c.2165C>G (p.Pro722Arg)
c.2072C>G (p.Pro691Arg)
c.2081C>G (p.Pro694Arg)
c.2225C>G (p.Pro742Arg)
c.*1934C>G (n.*1934C>G)
c.2207C>G (p.Pro736Arg)
c.2267C>G (p.Pro756Arg)
c.2261C>G (p.Pro754Arg)
n.2143C>G
c.2189C>G (p.Pro730Arg)
c.2159C>G (p.Pro720Arg)
c.173C>G (p.Pro58Arg)
c.2459C>G (p.Pro820Arg)
c.2468C>G (p.Pro823Arg)
c.1814C>G (p.Pro605Arg)
c.2258C>G (p.Pro753Arg)
 gnomAD v4
9g.135775390C>TCA375512440KCNT1c.2324C>T (p.Pro775Leu)
c.2165C>T (p.Pro722Leu)
c.2072C>T (p.Pro691Leu)
c.2081C>T (p.Pro694Leu)
c.2225C>T (p.Pro742Leu)
c.*1934C>T (n.*1934C>T)
c.2207C>T (p.Pro736Leu)
c.2267C>T (p.Pro756Leu)
c.2261C>T (p.Pro754Leu)
n.2143C>T
c.2189C>T (p.Pro730Leu)
c.2159C>T (p.Pro720Leu)
c.173C>T (p.Pro58Leu)
c.2459C>T (p.Pro820Leu)
c.2468C>T (p.Pro823Leu)
c.1814C>T (p.Pro605Leu)
c.2258C>T (p.Pro753Leu)
9g.135775391C>ACA467698810KCNT1c.2325C>A (p.Pro775=)
c.2166C>A (p.Pro722=)
c.2073C>A (p.Pro691=)
c.2082C>A (p.Pro694=)
c.2226C>A (p.Pro742=)
c.*1935C>A (n.*1935C>A)
c.2208C>A (p.Pro736=)
c.2268C>A (p.Pro756=)
c.2262C>A (p.Pro754=)
n.2144C>A
c.2190C>A (p.Pro730=)
c.2160C>A (p.Pro720=)
c.174C>A (p.Pro58=)
c.2460C>A (p.Pro820=)
c.2469C>A (p.Pro823=)
c.1815C>A (p.Pro605=)
c.2259C>A (p.Pro753=)
 gnomAD v4
9g.135775391C>GCA467698811KCNT1c.2325C>G (p.Pro775=)
c.2166C>G (p.Pro722=)
c.2073C>G (p.Pro691=)
c.2082C>G (p.Pro694=)
c.2226C>G (p.Pro742=)
c.*1935C>G (n.*1935C>G)
c.2208C>G (p.Pro736=)
c.2268C>G (p.Pro756=)
c.2262C>G (p.Pro754=)
n.2144C>G
c.2190C>G (p.Pro730=)
c.2160C>G (p.Pro720=)
c.174C>G (p.Pro58=)
c.2460C>G (p.Pro820=)
c.2469C>G (p.Pro823=)
c.1815C>G (p.Pro605=)
c.2259C>G (p.Pro753=)
 gnomAD v4
9g.135775391C>TCA467698812KCNT1c.2325C>T (p.Pro775=)
c.2166C>T (p.Pro722=)
c.2073C>T (p.Pro691=)
c.2082C>T (p.Pro694=)
c.2226C>T (p.Pro742=)
c.*1935C>T (n.*1935C>T)
c.2208C>T (p.Pro736=)
c.2268C>T (p.Pro756=)
c.2262C>T (p.Pro754=)
n.2144C>T
c.2190C>T (p.Pro730=)
c.2160C>T (p.Pro720=)
c.174C>T (p.Pro58=)
c.2460C>T (p.Pro820=)
c.2469C>T (p.Pro823=)
c.1815C>T (p.Pro605=)
c.2259C>T (p.Pro753=)
9g.135775392T>ACA375512449KCNT1c.2326T>A (p.Phe776Ile)
c.2167T>A (p.Phe723Ile)
c.2074T>A (p.Phe692Ile)
c.2083T>A (p.Phe695Ile)
c.2227T>A (p.Phe743Ile)
c.*1936T>A (n.*1936T>A)
c.2209T>A (p.Phe737Ile)
c.2269T>A (p.Phe757Ile)
c.2263T>A (p.Phe755Ile)
n.2145T>A
c.2191T>A (p.Phe731Ile)
c.2161T>A (p.Phe721Ile)
c.175T>A (p.Phe59Ile)
c.2461T>A (p.Phe821Ile)
c.2470T>A (p.Phe824Ile)
c.1816T>A (p.Phe606Ile)
c.2260T>A (p.Phe754Ile)
9g.135775392T>CCA375512455KCNT1c.2326T>C (p.Phe776Leu)
c.2167T>C (p.Phe723Leu)
c.2074T>C (p.Phe692Leu)
c.2083T>C (p.Phe695Leu)
c.2227T>C (p.Phe743Leu)
c.*1936T>C (n.*1936T>C)
c.2209T>C (p.Phe737Leu)
c.2269T>C (p.Phe757Leu)
c.2263T>C (p.Phe755Leu)
n.2145T>C
c.2191T>C (p.Phe731Leu)
c.2161T>C (p.Phe721Leu)
c.175T>C (p.Phe59Leu)
c.2461T>C (p.Phe821Leu)
c.2470T>C (p.Phe824Leu)
c.1816T>C (p.Phe606Leu)
c.2260T>C (p.Phe754Leu)
9g.135775392T>GCA375512461KCNT1c.2326T>G (p.Phe776Val)
c.2167T>G (p.Phe723Val)
c.2074T>G (p.Phe692Val)
c.2083T>G (p.Phe695Val)
c.2227T>G (p.Phe743Val)
c.*1936T>G (n.*1936T>G)
c.2209T>G (p.Phe737Val)
c.2269T>G (p.Phe757Val)
c.2263T>G (p.Phe755Val)
n.2145T>G
c.2191T>G (p.Phe731Val)
c.2161T>G (p.Phe721Val)
c.175T>G (p.Phe59Val)
c.2461T>G (p.Phe821Val)
c.2470T>G (p.Phe824Val)
c.1816T>G (p.Phe606Val)
c.2260T>G (p.Phe754Val)
9g.135775393T>ACA375512468KCNT1c.2327T>A (p.Phe776Tyr)
c.2168T>A (p.Phe723Tyr)
c.2075T>A (p.Phe692Tyr)
c.2084T>A (p.Phe695Tyr)
c.2228T>A (p.Phe743Tyr)
c.*1937T>A (n.*1937T>A)
c.2210T>A (p.Phe737Tyr)
c.2270T>A (p.Phe757Tyr)
c.2264T>A (p.Phe755Tyr)
n.2146T>A
c.2192T>A (p.Phe731Tyr)
c.2162T>A (p.Phe721Tyr)
c.176T>A (p.Phe59Tyr)
c.2462T>A (p.Phe821Tyr)
c.2471T>A (p.Phe824Tyr)
c.1817T>A (p.Phe606Tyr)
c.2261T>A (p.Phe754Tyr)
9g.135775393T>CCA375512471KCNT1c.2327T>C (p.Phe776Ser)
c.2168T>C (p.Phe723Ser)
c.2075T>C (p.Phe692Ser)
c.2084T>C (p.Phe695Ser)
c.2228T>C (p.Phe743Ser)
c.*1937T>C (n.*1937T>C)
c.2210T>C (p.Phe737Ser)
c.2270T>C (p.Phe757Ser)
c.2264T>C (p.Phe755Ser)
n.2146T>C
c.2192T>C (p.Phe731Ser)
c.2162T>C (p.Phe721Ser)
c.176T>C (p.Phe59Ser)
c.2462T>C (p.Phe821Ser)
c.2471T>C (p.Phe824Ser)
c.1817T>C (p.Phe606Ser)
c.2261T>C (p.Phe754Ser)
 dbSNP
9g.135775393T>GCA375512473KCNT1c.2327T>G (p.Phe776Cys)
c.2168T>G (p.Phe723Cys)
c.2075T>G (p.Phe692Cys)
c.2084T>G (p.Phe695Cys)
c.2228T>G (p.Phe743Cys)
c.*1937T>G (n.*1937T>G)
c.2210T>G (p.Phe737Cys)
c.2270T>G (p.Phe757Cys)
c.2264T>G (p.Phe755Cys)
n.2146T>G
c.2192T>G (p.Phe731Cys)
c.2162T>G (p.Phe721Cys)
c.176T>G (p.Phe59Cys)
c.2462T>G (p.Phe821Cys)
c.2471T>G (p.Phe824Cys)
c.1817T>G (p.Phe606Cys)
c.2261T>G (p.Phe754Cys)
9g.135775393T=CA1883884954KCNT1c.2327T= (p.Phe776=)
c.2168T= (p.Phe723=)
c.2075T= (p.Phe692=)
c.2084T= (p.Phe695=)
c.2228T= (p.Phe743=)
c.*1937T= (n.*1937T=)
c.2210T= (p.Phe737=)
c.2270T= (p.Phe757=)
c.2264T= (p.Phe755=)
n.2146T=
c.2192T= (p.Phe731=)
c.2162T= (p.Phe721=)
c.176T= (p.Phe59=)
c.2462T= (p.Phe821=)
c.2471T= (p.Phe824=)
c.1817T= (p.Phe606=)
c.2261T= (p.Phe754=)
9g.135775393_135775396delinsTCTGCA1883884955KCNT1c.2327_2330delinsTCTG (p.Phe776=)
c.2168_2171delinsTCTG (p.Phe723=)
c.2075_2078delinsTCTG (p.Phe692=)
c.2084_2087delinsTCTG (p.Phe695=)
c.2228_2231delinsTCTG (p.Phe743=)
c.*1937_*1940delinsTCTG (n.*1937_*1940delinsTCTG)
c.2210_2213delinsTCTG (p.Phe737=)
c.2270_2273delinsTCTG (p.Phe757=)
c.2264_2267delinsTCTG (p.Phe755=)
n.2146_2149delinsTCTG
c.2192_2195delinsTCTG (p.Phe731=)
c.2162_2165delinsTCTG (p.Phe721=)
c.176_179delinsTCTG (p.Phe59=)
c.2462_2465delinsTCTG (p.Phe821=)
c.2471_2474delinsTCTG (p.Phe824=)
c.1817_1820delinsTCTG (p.Phe606=)
c.2261_2264delinsTCTG (p.Phe754=)
9g.135775394C>ACA375512476KCNT1c.2328C>A (p.Phe776Leu)
c.2169C>A (p.Phe723Leu)
c.2076C>A (p.Phe692Leu)
c.2085C>A (p.Phe695Leu)
c.2229C>A (p.Phe743Leu)
c.*1938C>A (n.*1938C>A)
c.2211C>A (p.Phe737Leu)
c.2271C>A (p.Phe757Leu)
c.2265C>A (p.Phe755Leu)
n.2147C>A
c.2193C>A (p.Phe731Leu)
c.2163C>A (p.Phe721Leu)
c.177C>A (p.Phe59Leu)
c.2463C>A (p.Phe821Leu)
c.2472C>A (p.Phe824Leu)
c.1818C>A (p.Phe606Leu)
c.2262C>A (p.Phe754Leu)
9g.135775394C=CA1883884960KCNT1c.2328C= (p.Phe776=)
c.2169C= (p.Phe723=)
c.2076C= (p.Phe692=)
c.2085C= (p.Phe695=)
c.2229C= (p.Phe743=)
c.*1938C= (n.*1938C=)
c.2211C= (p.Phe737=)
c.2271C= (p.Phe757=)
c.2265C= (p.Phe755=)
n.2147C=
c.2193C= (p.Phe731=)
c.2163C= (p.Phe721=)
c.177C= (p.Phe59=)
c.2463C= (p.Phe821=)
c.2472C= (p.Phe824=)
c.1818C= (p.Phe606=)
c.2262C= (p.Phe754=)
9g.135775394C>GCA375512477KCNT1c.2328C>G (p.Phe776Leu)
c.2169C>G (p.Phe723Leu)
c.2076C>G (p.Phe692Leu)
c.2085C>G (p.Phe695Leu)
c.2229C>G (p.Phe743Leu)
c.*1938C>G (n.*1938C>G)
c.2211C>G (p.Phe737Leu)
c.2271C>G (p.Phe757Leu)
c.2265C>G (p.Phe755Leu)
n.2147C>G
c.2193C>G (p.Phe731Leu)
c.2163C>G (p.Phe721Leu)
c.177C>G (p.Phe59Leu)
c.2463C>G (p.Phe821Leu)
c.2472C>G (p.Phe824Leu)
c.1818C>G (p.Phe606Leu)
c.2262C>G (p.Phe754Leu)
9g.135775394C>TCA467698816KCNT1c.2328C>T (p.Phe776=)
c.2169C>T (p.Phe723=)
c.2076C>T (p.Phe692=)
c.2085C>T (p.Phe695=)
c.2229C>T (p.Phe743=)
c.*1938C>T (n.*1938C>T)
c.2211C>T (p.Phe737=)
c.2271C>T (p.Phe757=)
c.2265C>T (p.Phe755=)
n.2147C>T
c.2193C>T (p.Phe731=)
c.2163C>T (p.Phe721=)
c.177C>T (p.Phe59=)
c.2463C>T (p.Phe821=)
c.2472C>T (p.Phe824=)
c.1818C>T (p.Phe606=)
c.2262C>T (p.Phe754=)
 ClinVar dbSNP gnomAD v4
9g.135775398_135775400delCA591147001KCNT1c.2332_2334del (p.Cys778del)
c.2173_2175del (p.Cys725del)
c.2080_2082del (p.Cys694del)
c.2089_2091del (p.Cys697del)
c.2233_2235del (p.Cys745del)
c.*1942_*1944del (n.*1942_*1944del)
c.2215_2217del (p.Cys739del)
c.2275_2277del (p.Cys759del)
c.2269_2271del (p.Cys757del)
n.2151_2153del
c.2197_2199del (p.Cys733del)
c.2167_2169del (p.Cys723del)
c.181_183del (p.Cys61del)
c.2467_2469del (p.Cys823del)
c.2476_2478del (p.Cys826del)
c.1822_1824del (p.Cys608del)
c.2266_2268del (p.Cys756del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135775395T>ACA375512480KCNT1c.2329T>A (p.Cys777Ser)
c.2170T>A (p.Cys724Ser)
c.2077T>A (p.Cys693Ser)
c.2086T>A (p.Cys696Ser)
c.2230T>A (p.Cys744Ser)
c.*1939T>A (n.*1939T>A)
c.2212T>A (p.Cys738Ser)
c.2272T>A (p.Cys758Ser)
c.2266T>A (p.Cys756Ser)
n.2148T>A
c.2194T>A (p.Cys732Ser)
c.2164T>A (p.Cys722Ser)
c.178T>A (p.Cys60Ser)
c.2464T>A (p.Cys822Ser)
c.2473T>A (p.Cys825Ser)
c.1819T>A (p.Cys607Ser)
c.2263T>A (p.Cys755Ser)
9g.135775395T>CCA375512481KCNT1c.2329T>C (p.Cys777Arg)
c.2170T>C (p.Cys724Arg)
c.2077T>C (p.Cys693Arg)
c.2086T>C (p.Cys696Arg)
c.2230T>C (p.Cys744Arg)
c.*1939T>C (n.*1939T>C)
c.2212T>C (p.Cys738Arg)
c.2272T>C (p.Cys758Arg)
c.2266T>C (p.Cys756Arg)
n.2148T>C
c.2194T>C (p.Cys732Arg)
c.2164T>C (p.Cys722Arg)
c.178T>C (p.Cys60Arg)
c.2464T>C (p.Cys822Arg)
c.2473T>C (p.Cys825Arg)
c.1819T>C (p.Cys607Arg)
c.2263T>C (p.Cys755Arg)
9g.135775395T>GCA375512486KCNT1c.2329T>G (p.Cys777Gly)
c.2170T>G (p.Cys724Gly)
c.2077T>G (p.Cys693Gly)
c.2086T>G (p.Cys696Gly)
c.2230T>G (p.Cys744Gly)
c.*1939T>G (n.*1939T>G)
c.2212T>G (p.Cys738Gly)
c.2272T>G (p.Cys758Gly)
c.2266T>G (p.Cys756Gly)
n.2148T>G
c.2194T>G (p.Cys732Gly)
c.2164T>G (p.Cys722Gly)
c.178T>G (p.Cys60Gly)
c.2464T>G (p.Cys822Gly)
c.2473T>G (p.Cys825Gly)
c.1819T>G (p.Cys607Gly)
c.2263T>G (p.Cys755Gly)
9g.135775395_135775405delinsTGCTGCCTGCGCA1883884964KCNT1c.2329_2339delinsTGCTGCCTGCG (p.Cys777=)
c.2170_2180delinsTGCTGCCTGCG (p.Cys724=)
c.2077_2087delinsTGCTGCCTGCG (p.Cys693=)
c.2086_2096delinsTGCTGCCTGCG (p.Cys696=)
c.2230_2240delinsTGCTGCCTGCG (p.Cys744=)
c.*1939_*1949delinsTGCTGCCTGCG (n.*1939_*1949delinsTGCTGCCTGCG)
c.2212_2222delinsTGCTGCCTGCG (p.Cys738=)
c.2272_2282delinsTGCTGCCTGCG (p.Cys758=)
c.2266_2276delinsTGCTGCCTGCG (p.Cys756=)
n.2148_2158delinsTGCTGCCTGCG
c.2194_2204delinsTGCTGCCTGCG (p.Cys732=)
c.2164_2174delinsTGCTGCCTGCG (p.Cys722=)
c.178_188delinsTGCTGCCTGCG (p.Cys60=)
c.2464_2474delinsTGCTGCCTGCG (p.Cys822=)
c.2473_2483delinsTGCTGCCTGCG (p.Cys825=)
c.1819_1829delinsTGCTGCCTGCG (p.Cys607=)
c.2263_2273delinsTGCTGCCTGCG (p.Cys755=)
9g.135775396G>ACA375512496KCNT1c.2330G>A (p.Cys777Tyr)
c.2171G>A (p.Cys724Tyr)
c.2078G>A (p.Cys693Tyr)
c.2087G>A (p.Cys696Tyr)
c.2231G>A (p.Cys744Tyr)
c.*1940G>A (n.*1940G>A)
c.2213G>A (p.Cys738Tyr)
c.2273G>A (p.Cys758Tyr)
c.2267G>A (p.Cys756Tyr)
n.2149G>A
c.2195G>A (p.Cys732Tyr)
c.2165G>A (p.Cys722Tyr)
c.179G>A (p.Cys60Tyr)
c.2465G>A (p.Cys822Tyr)
c.2474G>A (p.Cys825Tyr)
c.1820G>A (p.Cys607Tyr)
c.2264G>A (p.Cys755Tyr)
9g.135775396G>CCA375512494KCNT1c.2330G>C (p.Cys777Ser)
c.2171G>C (p.Cys724Ser)
c.2078G>C (p.Cys693Ser)
c.2087G>C (p.Cys696Ser)
c.2231G>C (p.Cys744Ser)
c.*1940G>C (n.*1940G>C)
c.2213G>C (p.Cys738Ser)
c.2273G>C (p.Cys758Ser)
c.2267G>C (p.Cys756Ser)
n.2149G>C
c.2195G>C (p.Cys732Ser)
c.2165G>C (p.Cys722Ser)
c.179G>C (p.Cys60Ser)
c.2465G>C (p.Cys822Ser)
c.2474G>C (p.Cys825Ser)
c.1820G>C (p.Cys607Ser)
c.2264G>C (p.Cys755Ser)
 ClinVar gnomAD v4
9g.135775396G>TCA375512488KCNT1c.2330G>T (p.Cys777Phe)
c.2171G>T (p.Cys724Phe)
c.2078G>T (p.Cys693Phe)
c.2087G>T (p.Cys696Phe)
c.2231G>T (p.Cys744Phe)
c.*1940G>T (n.*1940G>T)
c.2213G>T (p.Cys738Phe)
c.2273G>T (p.Cys758Phe)
c.2267G>T (p.Cys756Phe)
n.2149G>T
c.2195G>T (p.Cys732Phe)
c.2165G>T (p.Cys722Phe)
c.179G>T (p.Cys60Phe)
c.2465G>T (p.Cys822Phe)
c.2474G>T (p.Cys825Phe)
c.1820G>T (p.Cys607Phe)
c.2264G>T (p.Cys755Phe)
9g.135775400_135775409delCA860991895KCNT1c.2334_2343del (p.Cys778TrpfsTer22)
c.2175_2184del (p.Cys725TrpfsTer22)
c.2082_2091del (p.Cys694TrpfsTer22)
c.2091_2100del (p.Cys697TrpfsTer22)
c.2235_2244del (p.Cys745TrpfsTer22)
c.*1944_*1953del (n.*1944_*1953del)
c.2217_2226del (p.Cys739TrpfsTer22)
c.2277_2286del (p.Cys759TrpfsTer22)
c.2271_2280del (p.Cys757TrpfsTer22)
n.2153_2162del
c.2199_2208del (p.Cys733TrpfsTer22)
c.2169_2178del (p.Cys723TrpfsTer22)
c.183_192del (p.Cys61TrpfsTer22)
c.2469_2478del (p.Cys823TrpfsTer22)
c.2478_2487del (p.Cys826TrpfsTer22)
c.1824_1833del (p.Cys608TrpfsTer22)
c.2268_2277del (p.Cys756TrpfsTer22)
 dbSNP gnomAD v3 gnomAD v4
9g.135775397C>ACA375512498KCNT1c.2331C>A (p.Cys777Ter)
c.2172C>A (p.Cys724Ter)
c.2079C>A (p.Cys693Ter)
c.2088C>A (p.Cys696Ter)
c.2232C>A (p.Cys744Ter)
c.*1941C>A (n.*1941C>A)
c.2214C>A (p.Cys738Ter)
c.2274C>A (p.Cys758Ter)
c.2268C>A (p.Cys756Ter)
n.2150C>A
c.2196C>A (p.Cys732Ter)
c.2166C>A (p.Cys722Ter)
c.180C>A (p.Cys60Ter)
c.2466C>A (p.Cys822Ter)
c.2475C>A (p.Cys825Ter)
c.1821C>A (p.Cys607Ter)
c.2265C>A (p.Cys755Ter)
9g.135775397C=CA1883884969KCNT1c.2331C= (p.Cys777=)
c.2172C= (p.Cys724=)
c.2079C= (p.Cys693=)
c.2088C= (p.Cys696=)
c.2232C= (p.Cys744=)
c.*1941C= (n.*1941C=)
c.2214C= (p.Cys738=)
c.2274C= (p.Cys758=)
c.2268C= (p.Cys756=)
n.2150C=
c.2196C= (p.Cys732=)
c.2166C= (p.Cys722=)
c.180C= (p.Cys60=)
c.2466C= (p.Cys822=)
c.2475C= (p.Cys825=)
c.1821C= (p.Cys607=)
c.2265C= (p.Cys755=)
9g.135775397C>GCA375512500KCNT1c.2331C>G (p.Cys777Trp)
c.2172C>G (p.Cys724Trp)
c.2079C>G (p.Cys693Trp)
c.2088C>G (p.Cys696Trp)
c.2232C>G (p.Cys744Trp)
c.*1941C>G (n.*1941C>G)
c.2214C>G (p.Cys738Trp)
c.2274C>G (p.Cys758Trp)
c.2268C>G (p.Cys756Trp)
n.2150C>G
c.2196C>G (p.Cys732Trp)
c.2166C>G (p.Cys722Trp)
c.180C>G (p.Cys60Trp)
c.2466C>G (p.Cys822Trp)
c.2475C>G (p.Cys825Trp)
c.1821C>G (p.Cys607Trp)
c.2265C>G (p.Cys755Trp)
9g.135775397C>TCA467698817KCNT1c.2331C>T (p.Cys777=)
c.2172C>T (p.Cys724=)
c.2079C>T (p.Cys693=)
c.2088C>T (p.Cys696=)
c.2232C>T (p.Cys744=)
c.*1941C>T (n.*1941C>T)
c.2214C>T (p.Cys738=)
c.2274C>T (p.Cys758=)
c.2268C>T (p.Cys756=)
n.2150C>T
c.2196C>T (p.Cys732=)
c.2166C>T (p.Cys722=)
c.180C>T (p.Cys60=)
c.2466C>T (p.Cys822=)
c.2475C>T (p.Cys825=)
c.1821C>T (p.Cys607=)
c.2265C>T (p.Cys755=)
 dbSNP gnomAD v2 gnomAD v4
9g.135775398T>ACA375512508KCNT1c.2332T>A (p.Cys778Ser)
c.2173T>A (p.Cys725Ser)
c.2080T>A (p.Cys694Ser)
c.2089T>A (p.Cys697Ser)
c.2233T>A (p.Cys745Ser)
c.*1942T>A (n.*1942T>A)
c.2215T>A (p.Cys739Ser)
c.2275T>A (p.Cys759Ser)
c.2269T>A (p.Cys757Ser)
n.2151T>A
c.2197T>A (p.Cys733Ser)
c.2167T>A (p.Cys723Ser)
c.181T>A (p.Cys61Ser)
c.2467T>A (p.Cys823Ser)
c.2476T>A (p.Cys826Ser)
c.1822T>A (p.Cys608Ser)
c.2266T>A (p.Cys756Ser)
9g.135775398T>CCA375512510KCNT1c.2332T>C (p.Cys778Arg)
c.2173T>C (p.Cys725Arg)
c.2080T>C (p.Cys694Arg)
c.2089T>C (p.Cys697Arg)
c.2233T>C (p.Cys745Arg)
c.*1942T>C (n.*1942T>C)
c.2215T>C (p.Cys739Arg)
c.2275T>C (p.Cys759Arg)
c.2269T>C (p.Cys757Arg)
n.2151T>C
c.2197T>C (p.Cys733Arg)
c.2167T>C (p.Cys723Arg)
c.181T>C (p.Cys61Arg)
c.2467T>C (p.Cys823Arg)
c.2476T>C (p.Cys826Arg)
c.1822T>C (p.Cys608Arg)
c.2266T>C (p.Cys756Arg)
9g.135775398T>GCA375512512KCNT1c.2332T>G (p.Cys778Gly)
c.2173T>G (p.Cys725Gly)
c.2080T>G (p.Cys694Gly)
c.2089T>G (p.Cys697Gly)
c.2233T>G (p.Cys745Gly)
c.*1942T>G (n.*1942T>G)
c.2215T>G (p.Cys739Gly)
c.2275T>G (p.Cys759Gly)
c.2269T>G (p.Cys757Gly)
n.2151T>G
c.2197T>G (p.Cys733Gly)
c.2167T>G (p.Cys723Gly)
c.181T>G (p.Cys61Gly)
c.2467T>G (p.Cys823Gly)
c.2476T>G (p.Cys826Gly)
c.1822T>G (p.Cys608Gly)
c.2266T>G (p.Cys756Gly)
9g.135775399G>ACA375512515KCNT1c.2333G>A (p.Cys778Tyr)
c.2174G>A (p.Cys725Tyr)
c.2081G>A (p.Cys694Tyr)
c.2090G>A (p.Cys697Tyr)
c.2234G>A (p.Cys745Tyr)
c.*1943G>A (n.*1943G>A)
c.2216G>A (p.Cys739Tyr)
c.2276G>A (p.Cys759Tyr)
c.2270G>A (p.Cys757Tyr)
n.2152G>A
c.2198G>A (p.Cys733Tyr)
c.2168G>A (p.Cys723Tyr)
c.182G>A (p.Cys61Tyr)
c.2468G>A (p.Cys823Tyr)
c.2477G>A (p.Cys826Tyr)
c.1823G>A (p.Cys608Tyr)
c.2267G>A (p.Cys756Tyr)
 dbSNP
9g.135775399G>CCA375512517KCNT1c.2333G>C (p.Cys778Ser)
c.2174G>C (p.Cys725Ser)
c.2081G>C (p.Cys694Ser)
c.2090G>C (p.Cys697Ser)
c.2234G>C (p.Cys745Ser)
c.*1943G>C (n.*1943G>C)
c.2216G>C (p.Cys739Ser)
c.2276G>C (p.Cys759Ser)
c.2270G>C (p.Cys757Ser)
n.2152G>C
c.2198G>C (p.Cys733Ser)
c.2168G>C (p.Cys723Ser)
c.182G>C (p.Cys61Ser)
c.2468G>C (p.Cys823Ser)
c.2477G>C (p.Cys826Ser)
c.1823G>C (p.Cys608Ser)
c.2267G>C (p.Cys756Ser)
9g.135775399G=CA1883884972KCNT1c.2333G= (p.Cys778=)
c.2174G= (p.Cys725=)
c.2081G= (p.Cys694=)
c.2090G= (p.Cys697=)
c.2234G= (p.Cys745=)
c.*1943G= (n.*1943G=)
c.2216G= (p.Cys739=)
c.2276G= (p.Cys759=)
c.2270G= (p.Cys757=)
n.2152G=
c.2198G= (p.Cys733=)
c.2168G= (p.Cys723=)
c.182G= (p.Cys61=)
c.2468G= (p.Cys823=)
c.2477G= (p.Cys826=)
c.1823G= (p.Cys608=)
c.2267G= (p.Cys756=)
9g.135775399G>TCA375512521KCNT1c.2333G>T (p.Cys778Phe)
c.2174G>T (p.Cys725Phe)
c.2081G>T (p.Cys694Phe)
c.2090G>T (p.Cys697Phe)
c.2234G>T (p.Cys745Phe)
c.*1943G>T (n.*1943G>T)
c.2216G>T (p.Cys739Phe)
c.2276G>T (p.Cys759Phe)
c.2270G>T (p.Cys757Phe)
n.2152G>T
c.2198G>T (p.Cys733Phe)
c.2168G>T (p.Cys723Phe)
c.182G>T (p.Cys61Phe)
c.2468G>T (p.Cys823Phe)
c.2477G>T (p.Cys826Phe)
c.1823G>T (p.Cys608Phe)
c.2267G>T (p.Cys756Phe)
9g.135775400C>ACA375512524KCNT1c.2334C>A (p.Cys778Ter)
c.2175C>A (p.Cys725Ter)
c.2082C>A (p.Cys694Ter)
c.2091C>A (p.Cys697Ter)
c.2235C>A (p.Cys745Ter)
c.*1944C>A (n.*1944C>A)
c.2217C>A (p.Cys739Ter)
c.2277C>A (p.Cys759Ter)
c.2271C>A (p.Cys757Ter)
n.2153C>A
c.2199C>A (p.Cys733Ter)
c.2169C>A (p.Cys723Ter)
c.183C>A (p.Cys61Ter)
c.2469C>A (p.Cys823Ter)
c.2478C>A (p.Cys826Ter)
c.1824C>A (p.Cys608Ter)
c.2268C>A (p.Cys756Ter)
9g.135775400C>GCA375512529KCNT1c.2334C>G (p.Cys778Trp)
c.2175C>G (p.Cys725Trp)
c.2082C>G (p.Cys694Trp)
c.2091C>G (p.Cys697Trp)
c.2235C>G (p.Cys745Trp)
c.*1944C>G (n.*1944C>G)
c.2217C>G (p.Cys739Trp)
c.2277C>G (p.Cys759Trp)
c.2271C>G (p.Cys757Trp)
n.2153C>G
c.2199C>G (p.Cys733Trp)
c.2169C>G (p.Cys723Trp)
c.183C>G (p.Cys61Trp)
c.2469C>G (p.Cys823Trp)
c.2478C>G (p.Cys826Trp)
c.1824C>G (p.Cys608Trp)
c.2268C>G (p.Cys756Trp)
9g.135775400C>TCA467698820KCNT1c.2334C>T (p.Cys778=)
c.2175C>T (p.Cys725=)
c.2082C>T (p.Cys694=)
c.2091C>T (p.Cys697=)
c.2235C>T (p.Cys745=)
c.*1944C>T (n.*1944C>T)
c.2217C>T (p.Cys739=)
c.2277C>T (p.Cys759=)
c.2271C>T (p.Cys757=)
n.2153C>T
c.2199C>T (p.Cys733=)
c.2169C>T (p.Cys723=)
c.183C>T (p.Cys61=)
c.2469C>T (p.Cys823=)
c.2478C>T (p.Cys826=)
c.1824C>T (p.Cys608=)
c.2268C>T (p.Cys756=)
 gnomAD v4
9g.135775401C>ACA375512532KCNT1c.2335C>A (p.Leu779Met)
c.2176C>A (p.Leu726Met)
c.2083C>A (p.Leu695Met)
c.2092C>A (p.Leu698Met)
c.2236C>A (p.Leu746Met)
c.*1945C>A (n.*1945C>A)
c.2218C>A (p.Leu740Met)
c.2278C>A (p.Leu760Met)
c.2272C>A (p.Leu758Met)
n.2154C>A
c.2200C>A (p.Leu734Met)
c.2170C>A (p.Leu724Met)
c.184C>A (p.Leu62Met)
c.2470C>A (p.Leu824Met)
c.2479C>A (p.Leu827Met)
c.1825C>A (p.Leu609Met)
c.2269C>A (p.Leu757Met)
 gnomAD v4
9g.135775401C=CA1883884974KCNT1c.2335C= (p.Leu779=)
c.2176C= (p.Leu726=)
c.2083C= (p.Leu695=)
c.2092C= (p.Leu698=)
c.2236C= (p.Leu746=)
c.*1945C= (n.*1945C=)
c.2218C= (p.Leu740=)
c.2278C= (p.Leu760=)
c.2272C= (p.Leu758=)
n.2154C=
c.2200C= (p.Leu734=)
c.2170C= (p.Leu724=)
c.184C= (p.Leu62=)
c.2470C= (p.Leu824=)
c.2479C= (p.Leu827=)
c.1825C= (p.Leu609=)
c.2269C= (p.Leu757=)
9g.135775401C>GCA375512535KCNT1c.2335C>G (p.Leu779Val)
c.2176C>G (p.Leu726Val)
c.2083C>G (p.Leu695Val)
c.2092C>G (p.Leu698Val)
c.2236C>G (p.Leu746Val)
c.*1945C>G (n.*1945C>G)
c.2218C>G (p.Leu740Val)
c.2278C>G (p.Leu760Val)
c.2272C>G (p.Leu758Val)
n.2154C>G
c.2200C>G (p.Leu734Val)
c.2170C>G (p.Leu724Val)
c.184C>G (p.Leu62Val)
c.2470C>G (p.Leu824Val)
c.2479C>G (p.Leu827Val)
c.1825C>G (p.Leu609Val)
c.2269C>G (p.Leu757Val)
9g.135775401C>TCA467698821KCNT1c.2335C>T (p.Leu779=)
c.2176C>T (p.Leu726=)
c.2083C>T (p.Leu695=)
c.2092C>T (p.Leu698=)
c.2236C>T (p.Leu746=)
c.*1945C>T (n.*1945C>T)
c.2218C>T (p.Leu740=)
c.2278C>T (p.Leu760=)
c.2272C>T (p.Leu758=)
n.2154C>T
c.2200C>T (p.Leu734=)
c.2170C>T (p.Leu724=)
c.184C>T (p.Leu62=)
c.2470C>T (p.Leu824=)
c.2479C>T (p.Leu827=)
c.1825C>T (p.Leu609=)
c.2269C>T (p.Leu757=)
 dbSNP gnomAD v4
9g.135775402T>ACA375512537KCNT1c.2336T>A (p.Leu779Gln)
c.2177T>A (p.Leu726Gln)
c.2084T>A (p.Leu695Gln)
c.2093T>A (p.Leu698Gln)
c.2237T>A (p.Leu746Gln)
c.*1946T>A (n.*1946T>A)
c.2219T>A (p.Leu740Gln)
c.2279T>A (p.Leu760Gln)
c.2273T>A (p.Leu758Gln)
n.2155T>A
c.2201T>A (p.Leu734Gln)
c.2171T>A (p.Leu724Gln)
c.185T>A (p.Leu62Gln)
c.2471T>A (p.Leu824Gln)
c.2480T>A (p.Leu827Gln)
c.1826T>A (p.Leu609Gln)
c.2270T>A (p.Leu757Gln)
9g.135775402T>CCA375512538KCNT1c.2336T>C (p.Leu779Pro)
c.2177T>C (p.Leu726Pro)
c.2084T>C (p.Leu695Pro)
c.2093T>C (p.Leu698Pro)
c.2237T>C (p.Leu746Pro)
c.*1946T>C (n.*1946T>C)
c.2219T>C (p.Leu740Pro)
c.2279T>C (p.Leu760Pro)
c.2273T>C (p.Leu758Pro)
n.2155T>C
c.2201T>C (p.Leu734Pro)
c.2171T>C (p.Leu724Pro)
c.185T>C (p.Leu62Pro)
c.2471T>C (p.Leu824Pro)
c.2480T>C (p.Leu827Pro)
c.1826T>C (p.Leu609Pro)
c.2270T>C (p.Leu757Pro)
9g.135775402T>GCA375512536KCNT1c.2336T>G (p.Leu779Arg)
c.2177T>G (p.Leu726Arg)
c.2084T>G (p.Leu695Arg)
c.2093T>G (p.Leu698Arg)
c.2237T>G (p.Leu746Arg)
c.*1946T>G (n.*1946T>G)
c.2219T>G (p.Leu740Arg)
c.2279T>G (p.Leu760Arg)
c.2273T>G (p.Leu758Arg)
n.2155T>G
c.2201T>G (p.Leu734Arg)
c.2171T>G (p.Leu724Arg)
c.185T>G (p.Leu62Arg)
c.2471T>G (p.Leu824Arg)
c.2480T>G (p.Leu827Arg)
c.1826T>G (p.Leu609Arg)
c.2270T>G (p.Leu757Arg)
9g.135775403G>ACA5327259KCNT1c.2337G>A (p.Leu779=)
c.2178G>A (p.Leu726=)
c.2085G>A (p.Leu695=)
c.2094G>A (p.Leu698=)
c.2238G>A (p.Leu746=)
c.*1947G>A (n.*1947G>A)
c.2220G>A (p.Leu740=)
c.2280G>A (p.Leu760=)
c.2274G>A (p.Leu758=)
n.2156G>A
c.2202G>A (p.Leu734=)
c.2172G>A (p.Leu724=)
c.186G>A (p.Leu62=)
c.2472G>A (p.Leu824=)
c.2481G>A (p.Leu827=)
c.1827G>A (p.Leu609=)
c.2271G>A (p.Leu757=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775403G>CCA467698825KCNT1c.2337G>C (p.Leu779=)
c.2178G>C (p.Leu726=)
c.2085G>C (p.Leu695=)
c.2094G>C (p.Leu698=)
c.2238G>C (p.Leu746=)
c.*1947G>C (n.*1947G>C)
c.2220G>C (p.Leu740=)
c.2280G>C (p.Leu760=)
c.2274G>C (p.Leu758=)
n.2156G>C
c.2202G>C (p.Leu734=)
c.2172G>C (p.Leu724=)
c.186G>C (p.Leu62=)
c.2472G>C (p.Leu824=)
c.2481G>C (p.Leu827=)
c.1827G>C (p.Leu609=)
c.2271G>C (p.Leu757=)
9g.135775403G=CA1883884985KCNT1c.2337G= (p.Leu779=)
c.2178G= (p.Leu726=)
c.2085G= (p.Leu695=)
c.2094G= (p.Leu698=)
c.2238G= (p.Leu746=)
c.*1947G= (n.*1947G=)
c.2220G= (p.Leu740=)
c.2280G= (p.Leu760=)
c.2274G= (p.Leu758=)
n.2156G=
c.2202G= (p.Leu734=)
c.2172G= (p.Leu724=)
c.186G= (p.Leu62=)
c.2472G= (p.Leu824=)
c.2481G= (p.Leu827=)
c.1827G= (p.Leu609=)
c.2271G= (p.Leu757=)
9g.135775403G>TCA467698826KCNT1c.2337G>T (p.Leu779=)
c.2178G>T (p.Leu726=)
c.2085G>T (p.Leu695=)
c.2094G>T (p.Leu698=)
c.2238G>T (p.Leu746=)
c.*1947G>T (n.*1947G>T)
c.2220G>T (p.Leu740=)
c.2280G>T (p.Leu760=)
c.2274G>T (p.Leu758=)
n.2156G>T
c.2202G>T (p.Leu734=)
c.2172G>T (p.Leu724=)
c.186G>T (p.Leu62=)
c.2472G>T (p.Leu824=)
c.2481G>T (p.Leu827=)
c.1827G>T (p.Leu609=)
c.2271G>T (p.Leu757=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135775404C>ACA467698827KCNT1c.2338C>A (p.Arg780=)
c.2179C>A (p.Arg727=)
c.2086C>A (p.Arg696=)
c.2095C>A (p.Arg699=)
c.2239C>A (p.Arg747=)
c.*1948C>A (n.*1948C>A)
c.2221C>A (p.Arg741=)
c.2281C>A (p.Arg761=)
c.2275C>A (p.Arg759=)
n.2157C>A
c.2203C>A (p.Arg735=)
c.2173C>A (p.Arg725=)
c.187C>A (p.Arg63=)
c.2473C>A (p.Arg825=)
c.2482C>A (p.Arg828=)
c.1828C>A (p.Arg610=)
c.2272C>A (p.Arg758=)
 ClinVar dbSNP gnomAD v4 COSMIC
9g.135775404C=CA1883884987KCNT1c.2338C= (p.Arg780=)
c.2179C= (p.Arg727=)
c.2086C= (p.Arg696=)
c.2095C= (p.Arg699=)
c.2239C= (p.Arg747=)
c.*1948C= (n.*1948C=)
c.2221C= (p.Arg741=)
c.2281C= (p.Arg761=)
c.2275C= (p.Arg759=)
n.2157C=
c.2203C= (p.Arg735=)
c.2173C= (p.Arg725=)
c.187C= (p.Arg63=)
c.2473C= (p.Arg825=)
c.2482C= (p.Arg828=)
c.1828C= (p.Arg610=)
c.2272C= (p.Arg758=)
9g.135775404C>GCA375512541KCNT1c.2338C>G (p.Arg780Gly)
c.2179C>G (p.Arg727Gly)
c.2086C>G (p.Arg696Gly)
c.2095C>G (p.Arg699Gly)
c.2239C>G (p.Arg747Gly)
c.*1948C>G (n.*1948C>G)
c.2221C>G (p.Arg741Gly)
c.2281C>G (p.Arg761Gly)
c.2275C>G (p.Arg759Gly)
n.2157C>G
c.2203C>G (p.Arg735Gly)
c.2173C>G (p.Arg725Gly)
c.187C>G (p.Arg63Gly)
c.2473C>G (p.Arg825Gly)
c.2482C>G (p.Arg828Gly)
c.1828C>G (p.Arg610Gly)
c.2272C>G (p.Arg758Gly)
9g.135775404C>TCA375512543KCNT1c.2338C>T (p.Arg780Trp)
c.2179C>T (p.Arg727Trp)
c.2086C>T (p.Arg696Trp)
c.2095C>T (p.Arg699Trp)
c.2239C>T (p.Arg747Trp)
c.*1948C>T (n.*1948C>T)
c.2221C>T (p.Arg741Trp)
c.2281C>T (p.Arg761Trp)
c.2275C>T (p.Arg759Trp)
n.2157C>T
c.2203C>T (p.Arg735Trp)
c.2173C>T (p.Arg725Trp)
c.187C>T (p.Arg63Trp)
c.2473C>T (p.Arg825Trp)
c.2482C>T (p.Arg828Trp)
c.1828C>T (p.Arg610Trp)
c.2272C>T (p.Arg758Trp)
 gnomAD v4
9g.135775405G>ACA5327260KCNT1c.2339G>A (p.Arg780Gln)
c.2180G>A (p.Arg727Gln)
c.2087G>A (p.Arg696Gln)
c.2096G>A (p.Arg699Gln)
c.2240G>A (p.Arg747Gln)
c.*1949G>A (n.*1949G>A)
c.2222G>A (p.Arg741Gln)
c.2282G>A (p.Arg761Gln)
c.2276G>A (p.Arg759Gln)
n.2158G>A
c.2204G>A (p.Arg735Gln)
c.2174G>A (p.Arg725Gln)
c.188G>A (p.Arg63Gln)
c.2474G>A (p.Arg825Gln)
c.2483G>A (p.Arg828Gln)
c.1829G>A (p.Arg610Gln)
c.2273G>A (p.Arg758Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135775405G>CCA375512547KCNT1c.2339G>C (p.Arg780Pro)
c.2180G>C (p.Arg727Pro)
c.2087G>C (p.Arg696Pro)
c.2096G>C (p.Arg699Pro)
c.2240G>C (p.Arg747Pro)
c.*1949G>C (n.*1949G>C)
c.2222G>C (p.Arg741Pro)
c.2282G>C (p.Arg761Pro)
c.2276G>C (p.Arg759Pro)
n.2158G>C
c.2204G>C (p.Arg735Pro)
c.2174G>C (p.Arg725Pro)
c.188G>C (p.Arg63Pro)
c.2474G>C (p.Arg825Pro)
c.2483G>C (p.Arg828Pro)
c.1829G>C (p.Arg610Pro)
c.2273G>C (p.Arg758Pro)
9g.135775405G=CA1883884995KCNT1c.2339G= (p.Arg780=)
c.2180G= (p.Arg727=)
c.2087G= (p.Arg696=)
c.2096G= (p.Arg699=)
c.2240G= (p.Arg747=)
c.*1949G= (n.*1949G=)
c.2222G= (p.Arg741=)
c.2282G= (p.Arg761=)
c.2276G= (p.Arg759=)
n.2158G=
c.2204G= (p.Arg735=)
c.2174G= (p.Arg725=)
c.188G= (p.Arg63=)
c.2474G= (p.Arg825=)
c.2483G= (p.Arg828=)
c.1829G= (p.Arg610=)
c.2273G= (p.Arg758=)
9g.135775405G>TCA375512550KCNT1c.2339G>T (p.Arg780Leu)
c.2180G>T (p.Arg727Leu)
c.2087G>T (p.Arg696Leu)
c.2096G>T (p.Arg699Leu)
c.2240G>T (p.Arg747Leu)
c.*1949G>T (n.*1949G>T)
c.2222G>T (p.Arg741Leu)
c.2282G>T (p.Arg761Leu)
c.2276G>T (p.Arg759Leu)
n.2158G>T
c.2204G>T (p.Arg735Leu)
c.2174G>T (p.Arg725Leu)
c.188G>T (p.Arg63Leu)
c.2474G>T (p.Arg825Leu)
c.2483G>T (p.Arg828Leu)
c.1829G>T (p.Arg610Leu)
c.2273G>T (p.Arg758Leu)
9g.135775406G>ACA467698829KCNT1c.2340G>A (p.Arg780=)
c.2181G>A (p.Arg727=)
c.2088G>A (p.Arg696=)
c.2097G>A (p.Arg699=)
c.2241G>A (p.Arg747=)
c.*1950G>A (n.*1950G>A)
c.2223G>A (p.Arg741=)
c.2283G>A (p.Arg761=)
c.2277G>A (p.Arg759=)
n.2159G>A
c.2205G>A (p.Arg735=)
c.2175G>A (p.Arg725=)
c.189G>A (p.Arg63=)
c.2475G>A (p.Arg825=)
c.2484G>A (p.Arg828=)
c.1830G>A (p.Arg610=)
c.2274G>A (p.Arg758=)
 dbSNP gnomAD v2 gnomAD v4
9g.135775406G>CCA467698831KCNT1c.2340G>C (p.Arg780=)
c.2181G>C (p.Arg727=)
c.2088G>C (p.Arg696=)
c.2097G>C (p.Arg699=)
c.2241G>C (p.Arg747=)
c.*1950G>C (n.*1950G>C)
c.2223G>C (p.Arg741=)
c.2283G>C (p.Arg761=)
c.2277G>C (p.Arg759=)
n.2159G>C
c.2205G>C (p.Arg735=)
c.2175G>C (p.Arg725=)
c.189G>C (p.Arg63=)
c.2475G>C (p.Arg825=)
c.2484G>C (p.Arg828=)
c.1830G>C (p.Arg610=)
c.2274G>C (p.Arg758=)
9g.135775406G=CA1883885005KCNT1c.2340G= (p.Arg780=)
c.2181G= (p.Arg727=)
c.2088G= (p.Arg696=)
c.2097G= (p.Arg699=)
c.2241G= (p.Arg747=)
c.*1950G= (n.*1950G=)
c.2223G= (p.Arg741=)
c.2283G= (p.Arg761=)
c.2277G= (p.Arg759=)
n.2159G=
c.2205G= (p.Arg735=)
c.2175G= (p.Arg725=)
c.189G= (p.Arg63=)
c.2475G= (p.Arg825=)
c.2484G= (p.Arg828=)
c.1830G= (p.Arg610=)
c.2274G= (p.Arg758=)
9g.135775406G>TCA467698833KCNT1c.2340G>T (p.Arg780=)
c.2181G>T (p.Arg727=)
c.2088G>T (p.Arg696=)
c.2097G>T (p.Arg699=)
c.2241G>T (p.Arg747=)
c.*1950G>T (n.*1950G>T)
c.2223G>T (p.Arg741=)
c.2283G>T (p.Arg761=)
c.2277G>T (p.Arg759=)
n.2159G>T
c.2205G>T (p.Arg735=)
c.2175G>T (p.Arg725=)
c.189G>T (p.Arg63=)
c.2475G>T (p.Arg825=)
c.2484G>T (p.Arg828=)
c.1830G>T (p.Arg610=)
c.2274G>T (p.Arg758=)
9g.135775407C>ACA375512554KCNT1c.2341C>A (p.Leu781Met)
c.2182C>A (p.Leu728Met)
c.2089C>A (p.Leu697Met)
c.2098C>A (p.Leu700Met)
c.2242C>A (p.Leu748Met)
c.*1951C>A (n.*1951C>A)
c.2224C>A (p.Leu742Met)
c.2284C>A (p.Leu762Met)
c.2278C>A (p.Leu760Met)
n.2160C>A
c.2206C>A (p.Leu736Met)
c.2176C>A (p.Leu726Met)
c.190C>A (p.Leu64Met)
c.2476C>A (p.Leu826Met)
c.2485C>A (p.Leu829Met)
c.1831C>A (p.Leu611Met)
c.2275C>A (p.Leu759Met)
 gnomAD v4
9g.135775407C>GCA375512565KCNT1c.2341C>G (p.Leu781Val)
c.2182C>G (p.Leu728Val)
c.2089C>G (p.Leu697Val)
c.2098C>G (p.Leu700Val)
c.2242C>G (p.Leu748Val)
c.*1951C>G (n.*1951C>G)
c.2224C>G (p.Leu742Val)
c.2284C>G (p.Leu762Val)
c.2278C>G (p.Leu760Val)
n.2160C>G
c.2206C>G (p.Leu736Val)
c.2176C>G (p.Leu726Val)
c.190C>G (p.Leu64Val)
c.2476C>G (p.Leu826Val)
c.2485C>G (p.Leu829Val)
c.1831C>G (p.Leu611Val)
c.2275C>G (p.Leu759Val)
 ClinVar
9g.135775407C>TCA467698834KCNT1c.2341C>T (p.Leu781=)
c.2182C>T (p.Leu728=)
c.2089C>T (p.Leu697=)
c.2098C>T (p.Leu700=)
c.2242C>T (p.Leu748=)
c.*1951C>T (n.*1951C>T)
c.2224C>T (p.Leu742=)
c.2284C>T (p.Leu762=)
c.2278C>T (p.Leu760=)
n.2160C>T
c.2206C>T (p.Leu736=)
c.2176C>T (p.Leu726=)
c.190C>T (p.Leu64=)
c.2476C>T (p.Leu826=)
c.2485C>T (p.Leu829=)
c.1831C>T (p.Leu611=)
c.2275C>T (p.Leu759=)
9g.135775408T>ACA375512569KCNT1c.2342T>A (p.Leu781Gln)
c.2183T>A (p.Leu728Gln)
c.2090T>A (p.Leu697Gln)
c.2099T>A (p.Leu700Gln)
c.2243T>A (p.Leu748Gln)
c.*1952T>A (n.*1952T>A)
c.2225T>A (p.Leu742Gln)
c.2285T>A (p.Leu762Gln)
c.2279T>A (p.Leu760Gln)
n.2161T>A
c.2207T>A (p.Leu736Gln)
c.2177T>A (p.Leu726Gln)
c.191T>A (p.Leu64Gln)
c.2477T>A (p.Leu826Gln)
c.2486T>A (p.Leu829Gln)
c.1832T>A (p.Leu611Gln)
c.2276T>A (p.Leu759Gln)
9g.135775408T>CCA375512573KCNT1c.2342T>C (p.Leu781Pro)
c.2183T>C (p.Leu728Pro)
c.2090T>C (p.Leu697Pro)
c.2099T>C (p.Leu700Pro)
c.2243T>C (p.Leu748Pro)
c.*1952T>C (n.*1952T>C)
c.2225T>C (p.Leu742Pro)
c.2285T>C (p.Leu762Pro)
c.2279T>C (p.Leu760Pro)
n.2161T>C
c.2207T>C (p.Leu736Pro)
c.2177T>C (p.Leu726Pro)
c.191T>C (p.Leu64Pro)
c.2477T>C (p.Leu826Pro)
c.2486T>C (p.Leu829Pro)
c.1832T>C (p.Leu611Pro)
c.2276T>C (p.Leu759Pro)
9g.135775408T>GCA375512577KCNT1c.2342T>G (p.Leu781Arg)
c.2183T>G (p.Leu728Arg)
c.2090T>G (p.Leu697Arg)
c.2099T>G (p.Leu700Arg)
c.2243T>G (p.Leu748Arg)
c.*1952T>G (n.*1952T>G)
c.2225T>G (p.Leu742Arg)
c.2285T>G (p.Leu762Arg)
c.2279T>G (p.Leu760Arg)
n.2161T>G
c.2207T>G (p.Leu736Arg)
c.2177T>G (p.Leu726Arg)
c.191T>G (p.Leu64Arg)
c.2477T>G (p.Leu826Arg)
c.2486T>G (p.Leu829Arg)
c.1832T>G (p.Leu611Arg)
c.2276T>G (p.Leu759Arg)
9g.135775409G>ACA467698835KCNT1c.2343G>A (p.Leu781=)
c.2184G>A (p.Leu728=)
c.2091G>A (p.Leu697=)
c.2100G>A (p.Leu700=)
c.2244G>A (p.Leu748=)
c.*1953G>A (n.*1953G>A)
c.2226G>A (p.Leu742=)
c.2286G>A (p.Leu762=)
c.2280G>A (p.Leu760=)
n.2162G>A
c.2208G>A (p.Leu736=)
c.2178G>A (p.Leu726=)
c.192G>A (p.Leu64=)
c.2478G>A (p.Leu826=)
c.2487G>A (p.Leu829=)
c.1833G>A (p.Leu611=)
c.2277G>A (p.Leu759=)
 gnomAD v4 COSMIC COSMIC
9g.135775409G>CCA467698836KCNT1c.2343G>C (p.Leu781=)
c.2184G>C (p.Leu728=)
c.2091G>C (p.Leu697=)
c.2100G>C (p.Leu700=)
c.2244G>C (p.Leu748=)
c.*1953G>C (n.*1953G>C)
c.2226G>C (p.Leu742=)
c.2286G>C (p.Leu762=)
c.2280G>C (p.Leu760=)
n.2162G>C
c.2208G>C (p.Leu736=)
c.2178G>C (p.Leu726=)
c.192G>C (p.Leu64=)
c.2478G>C (p.Leu826=)
c.2487G>C (p.Leu829=)
c.1833G>C (p.Leu611=)
c.2277G>C (p.Leu759=)
9g.135775409G>TCA467698839KCNT1c.2343G>T (p.Leu781=)
c.2184G>T (p.Leu728=)
c.2091G>T (p.Leu697=)
c.2100G>T (p.Leu700=)
c.2244G>T (p.Leu748=)
c.*1953G>T (n.*1953G>T)
c.2226G>T (p.Leu742=)
c.2286G>T (p.Leu762=)
c.2280G>T (p.Leu760=)
n.2162G>T
c.2208G>T (p.Leu736=)
c.2178G>T (p.Leu726=)
c.192G>T (p.Leu64=)
c.2478G>T (p.Leu826=)
c.2487G>T (p.Leu829=)
c.1833G>T (p.Leu611=)
c.2277G>T (p.Leu759=)
9g.135775410G>ACA375512580KCNT1c.2344G>A (p.Asp782Asn)
c.2185G>A (p.Asp729Asn)
c.2092G>A (p.Asp698Asn)
c.2101G>A (p.Asp701Asn)
c.2245G>A (p.Asp749Asn)
c.*1954G>A (n.*1954G>A)
c.2227G>A (p.Asp743Asn)
c.2287G>A (p.Asp763Asn)
c.2281G>A (p.Asp761Asn)
n.2163G>A
c.2209G>A (p.Asp737Asn)
c.2179G>A (p.Asp727Asn)
c.193G>A (p.Asp65Asn)
c.2479G>A (p.Asp827Asn)
c.2488G>A (p.Asp830Asn)
c.1834G>A (p.Asp612Asn)
c.2278G>A (p.Asp760Asn)
9g.135775410G>CCA375512582KCNT1c.2344G>C (p.Asp782His)
c.2185G>C (p.Asp729His)
c.2092G>C (p.Asp698His)
c.2101G>C (p.Asp701His)
c.2245G>C (p.Asp749His)
c.*1954G>C (n.*1954G>C)
c.2227G>C (p.Asp743His)
c.2287G>C (p.Asp763His)
c.2281G>C (p.Asp761His)
n.2163G>C
c.2209G>C (p.Asp737His)
c.2179G>C (p.Asp727His)
c.193G>C (p.Asp65His)
c.2479G>C (p.Asp827His)
c.2488G>C (p.Asp830His)
c.1834G>C (p.Asp612His)
c.2278G>C (p.Asp760His)
9g.135775410G>TCA375512584KCNT1c.2344G>T (p.Asp782Tyr)
c.2185G>T (p.Asp729Tyr)
c.2092G>T (p.Asp698Tyr)
c.2101G>T (p.Asp701Tyr)
c.2245G>T (p.Asp749Tyr)
c.*1954G>T (n.*1954G>T)
c.2227G>T (p.Asp743Tyr)
c.2287G>T (p.Asp763Tyr)
c.2281G>T (p.Asp761Tyr)
n.2163G>T
c.2209G>T (p.Asp737Tyr)
c.2179G>T (p.Asp727Tyr)
c.193G>T (p.Asp65Tyr)
c.2479G>T (p.Asp827Tyr)
c.2488G>T (p.Asp830Tyr)
c.1834G>T (p.Asp612Tyr)
c.2278G>T (p.Asp760Tyr)
9g.135775411A>CCA375512588KCNT1c.2345A>C (p.Asp782Ala)
c.2186A>C (p.Asp729Ala)
c.2093A>C (p.Asp698Ala)
c.2102A>C (p.Asp701Ala)
c.2246A>C (p.Asp749Ala)
c.*1955A>C (n.*1955A>C)
c.2228A>C (p.Asp743Ala)
c.2288A>C (p.Asp763Ala)
c.2282A>C (p.Asp761Ala)
n.2164A>C
c.2210A>C (p.Asp737Ala)
c.2180A>C (p.Asp727Ala)
c.194A>C (p.Asp65Ala)
c.2480A>C (p.Asp827Ala)
c.2489A>C (p.Asp830Ala)
c.1835A>C (p.Asp612Ala)
c.2279A>C (p.Asp760Ala)
9g.135775411A>GCA375512598KCNT1c.2345A>G (p.Asp782Gly)
c.2186A>G (p.Asp729Gly)
c.2093A>G (p.Asp698Gly)
c.2102A>G (p.Asp701Gly)
c.2246A>G (p.Asp749Gly)
c.*1955A>G (n.*1955A>G)
c.2228A>G (p.Asp743Gly)
c.2288A>G (p.Asp763Gly)
c.2282A>G (p.Asp761Gly)
n.2164A>G
c.2210A>G (p.Asp737Gly)
c.2180A>G (p.Asp727Gly)
c.194A>G (p.Asp65Gly)
c.2480A>G (p.Asp827Gly)
c.2489A>G (p.Asp830Gly)
c.1835A>G (p.Asp612Gly)
c.2279A>G (p.Asp760Gly)
 gnomAD v4
9g.135775411A>TCA375512595KCNT1c.2345A>T (p.Asp782Val)
c.2186A>T (p.Asp729Val)
c.2093A>T (p.Asp698Val)
c.2102A>T (p.Asp701Val)
c.2246A>T (p.Asp749Val)
c.*1955A>T (n.*1955A>T)
c.2228A>T (p.Asp743Val)
c.2288A>T (p.Asp763Val)
c.2282A>T (p.Asp761Val)
n.2164A>T
c.2210A>T (p.Asp737Val)
c.2180A>T (p.Asp727Val)
c.194A>T (p.Asp65Val)
c.2480A>T (p.Asp827Val)
c.2489A>T (p.Asp830Val)
c.1835A>T (p.Asp612Val)
c.2279A>T (p.Asp760Val)
9g.135775412C>ACA375512601KCNT1c.2346C>A (p.Asp782Glu)
c.2187C>A (p.Asp729Glu)
c.2094C>A (p.Asp698Glu)
c.2103C>A (p.Asp701Glu)
c.2247C>A (p.Asp749Glu)
c.*1956C>A (n.*1956C>A)
c.2229C>A (p.Asp743Glu)
c.2289C>A (p.Asp763Glu)
c.2283C>A (p.Asp761Glu)
n.2165C>A
c.2211C>A (p.Asp737Glu)
c.2181C>A (p.Asp727Glu)
c.195C>A (p.Asp65Glu)
c.2481C>A (p.Asp827Glu)
c.2490C>A (p.Asp830Glu)
c.1836C>A (p.Asp612Glu)
c.2280C>A (p.Asp760Glu)
 ClinVar
9g.135775412C>GCA375512603KCNT1c.2346C>G (p.Asp782Glu)
c.2187C>G (p.Asp729Glu)
c.2094C>G (p.Asp698Glu)
c.2103C>G (p.Asp701Glu)
c.2247C>G (p.Asp749Glu)
c.*1956C>G (n.*1956C>G)
c.2229C>G (p.Asp743Glu)
c.2289C>G (p.Asp763Glu)
c.2283C>G (p.Asp761Glu)
n.2165C>G
c.2211C>G (p.Asp737Glu)
c.2181C>G (p.Asp727Glu)
c.195C>G (p.Asp65Glu)
c.2481C>G (p.Asp827Glu)
c.2490C>G (p.Asp830Glu)
c.1836C>G (p.Asp612Glu)
c.2280C>G (p.Asp760Glu)
 gnomAD v4
9g.135775412C>TCA467698841KCNT1c.2346C>T (p.Asp782=)
c.2187C>T (p.Asp729=)
c.2094C>T (p.Asp698=)
c.2103C>T (p.Asp701=)
c.2247C>T (p.Asp749=)
c.*1956C>T (n.*1956C>T)
c.2229C>T (p.Asp743=)
c.2289C>T (p.Asp763=)
c.2283C>T (p.Asp761=)
n.2165C>T
c.2211C>T (p.Asp737=)
c.2181C>T (p.Asp727=)
c.195C>T (p.Asp65=)
c.2481C>T (p.Asp827=)
c.2490C>T (p.Asp830=)
c.1836C>T (p.Asp612=)
c.2280C>T (p.Asp760=)
 gnomAD v4
9g.135775413A>CCA375512617KCNT1c.2347A>C (p.Lys783Gln)
c.2188A>C (p.Lys730Gln)
c.2095A>C (p.Lys699Gln)
c.2104A>C (p.Lys702Gln)
c.2248A>C (p.Lys750Gln)
c.*1957A>C (n.*1957A>C)
c.2230A>C (p.Lys744Gln)
c.2290A>C (p.Lys764Gln)
c.2284A>C (p.Lys762Gln)
n.2166A>C
c.2212A>C (p.Lys738Gln)
c.2182A>C (p.Lys728Gln)
c.196A>C (p.Lys66Gln)
c.2482A>C (p.Lys828Gln)
c.2491A>C (p.Lys831Gln)
c.1837A>C (p.Lys613Gln)
c.2281A>C (p.Lys761Gln)
9g.135775413A>GCA375512619KCNT1c.2347A>G (p.Lys783Glu)
c.2188A>G (p.Lys730Glu)
c.2095A>G (p.Lys699Glu)
c.2104A>G (p.Lys702Glu)
c.2248A>G (p.Lys750Glu)
c.*1957A>G (n.*1957A>G)
c.2230A>G (p.Lys744Glu)
c.2290A>G (p.Lys764Glu)
c.2284A>G (p.Lys762Glu)
n.2166A>G
c.2212A>G (p.Lys738Glu)
c.2182A>G (p.Lys728Glu)
c.196A>G (p.Lys66Glu)
c.2482A>G (p.Lys828Glu)
c.2491A>G (p.Lys831Glu)
c.1837A>G (p.Lys613Glu)
c.2281A>G (p.Lys761Glu)
9g.135775413A>TCA375512621KCNT1c.2347A>T (p.Lys783Ter)
c.2188A>T (p.Lys730Ter)
c.2095A>T (p.Lys699Ter)
c.2104A>T (p.Lys702Ter)
c.2248A>T (p.Lys750Ter)
c.*1957A>T (n.*1957A>T)
c.2230A>T (p.Lys744Ter)
c.2290A>T (p.Lys764Ter)
c.2284A>T (p.Lys762Ter)
n.2166A>T
c.2212A>T (p.Lys738Ter)
c.2182A>T (p.Lys728Ter)
c.196A>T (p.Lys66Ter)
c.2482A>T (p.Lys828Ter)
c.2491A>T (p.Lys831Ter)
c.1837A>T (p.Lys613Ter)
c.2281A>T (p.Lys761Ter)
9g.135775414A>CCA375512625KCNT1c.2348A>C (p.Lys783Thr)
c.2189A>C (p.Lys730Thr)
c.2096A>C (p.Lys699Thr)
c.2105A>C (p.Lys702Thr)
c.2249A>C (p.Lys750Thr)
c.*1958A>C (n.*1958A>C)
c.2231A>C (p.Lys744Thr)
c.2291A>C (p.Lys764Thr)
c.2285A>C (p.Lys762Thr)
n.2167A>C
c.2213A>C (p.Lys738Thr)
c.2183A>C (p.Lys728Thr)
c.197A>C (p.Lys66Thr)
c.2483A>C (p.Lys828Thr)
c.2492A>C (p.Lys831Thr)
c.1838A>C (p.Lys613Thr)
c.2282A>C (p.Lys761Thr)
9g.135775414A>GCA375512640KCNT1c.2348A>G (p.Lys783Arg)
c.2189A>G (p.Lys730Arg)
c.2096A>G (p.Lys699Arg)
c.2105A>G (p.Lys702Arg)
c.2249A>G (p.Lys750Arg)
c.*1958A>G (n.*1958A>G)
c.2231A>G (p.Lys744Arg)
c.2291A>G (p.Lys764Arg)
c.2285A>G (p.Lys762Arg)
n.2167A>G
c.2213A>G (p.Lys738Arg)
c.2183A>G (p.Lys728Arg)
c.197A>G (p.Lys66Arg)
c.2483A>G (p.Lys828Arg)
c.2492A>G (p.Lys831Arg)
c.1838A>G (p.Lys613Arg)
c.2282A>G (p.Lys761Arg)
9g.135775414A>TCA375512642KCNT1c.2348A>T (p.Lys783Met)
c.2189A>T (p.Lys730Met)
c.2096A>T (p.Lys699Met)
c.2105A>T (p.Lys702Met)
c.2249A>T (p.Lys750Met)
c.*1958A>T (n.*1958A>T)
c.2231A>T (p.Lys744Met)
c.2291A>T (p.Lys764Met)
c.2285A>T (p.Lys762Met)
n.2167A>T
c.2213A>T (p.Lys738Met)
c.2183A>T (p.Lys728Met)
c.197A>T (p.Lys66Met)
c.2483A>T (p.Lys828Met)
c.2492A>T (p.Lys831Met)
c.1838A>T (p.Lys613Met)
c.2282A>T (p.Lys761Met)
9g.135775415G>ACA467698842KCNT1c.2349G>A (p.Lys783=)
c.2190G>A (p.Lys730=)
c.2097G>A (p.Lys699=)
c.2106G>A (p.Lys702=)
c.2250G>A (p.Lys750=)
c.*1959G>A (n.*1959G>A)
c.2232G>A (p.Lys744=)
c.2292G>A (p.Lys764=)
c.2286G>A (p.Lys762=)
n.2168G>A
c.2214G>A (p.Lys738=)
c.2184G>A (p.Lys728=)
c.198G>A (p.Lys66=)
c.2484G>A (p.Lys828=)
c.2493G>A (p.Lys831=)
c.1839G>A (p.Lys613=)
c.2283G>A (p.Lys761=)
 dbSNP gnomAD v2 gnomAD v4
9g.135775415G>CCA375512645KCNT1c.2349G>C (p.Lys783Asn)
c.2190G>C (p.Lys730Asn)
c.2097G>C (p.Lys699Asn)
c.2106G>C (p.Lys702Asn)
c.2250G>C (p.Lys750Asn)
c.*1959G>C (n.*1959G>C)
c.2232G>C (p.Lys744Asn)
c.2292G>C (p.Lys764Asn)
c.2286G>C (p.Lys762Asn)
n.2168G>C
c.2214G>C (p.Lys738Asn)
c.2184G>C (p.Lys728Asn)
c.198G>C (p.Lys66Asn)
c.2484G>C (p.Lys828Asn)
c.2493G>C (p.Lys831Asn)
c.1839G>C (p.Lys613Asn)
c.2283G>C (p.Lys761Asn)
9g.135775415G=CA1883885014KCNT1c.2349G= (p.Lys783=)
c.2190G= (p.Lys730=)
c.2097G= (p.Lys699=)
c.2106G= (p.Lys702=)
c.2250G= (p.Lys750=)
c.*1959G= (n.*1959G=)
c.2232G= (p.Lys744=)
c.2292G= (p.Lys764=)
c.2286G= (p.Lys762=)
n.2168G=
c.2214G= (p.Lys738=)
c.2184G= (p.Lys728=)
c.198G= (p.Lys66=)
c.2484G= (p.Lys828=)
c.2493G= (p.Lys831=)
c.1839G= (p.Lys613=)
c.2283G= (p.Lys761=)
9g.135775415G>TCA375512648KCNT1c.2349G>T (p.Lys783Asn)
c.2190G>T (p.Lys730Asn)
c.2097G>T (p.Lys699Asn)
c.2106G>T (p.Lys702Asn)
c.2250G>T (p.Lys750Asn)
c.*1959G>T (n.*1959G>T)
c.2232G>T (p.Lys744Asn)
c.2292G>T (p.Lys764Asn)
c.2286G>T (p.Lys762Asn)
n.2168G>T
c.2214G>T (p.Lys738Asn)
c.2184G>T (p.Lys728Asn)
c.198G>T (p.Lys66Asn)
c.2484G>T (p.Lys828Asn)
c.2493G>T (p.Lys831Asn)
c.1839G>T (p.Lys613Asn)
c.2283G>T (p.Lys761Asn)
9g.135775416G>ACA375512652KCNT1c.2349+1G>A (n.2349+1G>A)
c.2190+1G>A (n.2190+1G>A)
c.2097+1G>A (n.2097+1G>A)
c.2106+1G>A (n.2106+1G>A)
c.2250+1G>A (n.2250+1G>A)
c.*1959+1G>A (n.*1959+1G>A)
c.2232+1G>A (n.2232+1G>A)
c.2292+1G>A (n.2292+1G>A)
c.2286+1G>A (n.2286+1G>A)
n.2168+1G>A
c.2214+1G>A (n.2214+1G>A)
c.2184+1G>A (n.2184+1G>A)
c.198+1G>A (n.198+1G>A)
c.2484+1G>A (n.2484+1G>A)
c.2493+1G>A (n.2493+1G>A)
c.1839+1G>A (n.1839+1G>A)
c.2283+1G>A (n.2283+1G>A)
 gnomAD v4
9g.135775416G>CCA375512653KCNT1c.2349+1G>C (n.2349+1G>C)
c.2190+1G>C (n.2190+1G>C)
c.2097+1G>C (n.2097+1G>C)
c.2106+1G>C (n.2106+1G>C)
c.2250+1G>C (n.2250+1G>C)
c.*1959+1G>C (n.*1959+1G>C)
c.2232+1G>C (n.2232+1G>C)
c.2292+1G>C (n.2292+1G>C)
c.2286+1G>C (n.2286+1G>C)
n.2168+1G>C
c.2214+1G>C (n.2214+1G>C)
c.2184+1G>C (n.2184+1G>C)
c.198+1G>C (n.198+1G>C)
c.2484+1G>C (n.2484+1G>C)
c.2493+1G>C (n.2493+1G>C)
c.1839+1G>C (n.1839+1G>C)
c.2283+1G>C (n.2283+1G>C)
9g.135775416G=CA1883885019KCNT1c.2349+1G= (n.2349+1G=)
c.2190+1G= (n.2190+1G=)
c.2097+1G= (n.2097+1G=)
c.2106+1G= (n.2106+1G=)
c.2250+1G= (n.2250+1G=)
c.*1959+1G= (n.*1959+1G=)
c.2232+1G= (n.2232+1G=)
c.2292+1G= (n.2292+1G=)
c.2286+1G= (n.2286+1G=)
n.2168+1G=
c.2214+1G= (n.2214+1G=)
c.2184+1G= (n.2184+1G=)
c.198+1G= (n.198+1G=)
c.2484+1G= (n.2484+1G=)
c.2493+1G= (n.2493+1G=)
c.1839+1G= (n.1839+1G=)
c.2283+1G= (n.2283+1G=)
9g.135775416G>TCA375512651KCNT1c.2349+1G>T (n.2349+1G>T)
c.2190+1G>T (n.2190+1G>T)
c.2097+1G>T (n.2097+1G>T)
c.2106+1G>T (n.2106+1G>T)
c.2250+1G>T (n.2250+1G>T)
c.*1959+1G>T (n.*1959+1G>T)
c.2232+1G>T (n.2232+1G>T)
c.2292+1G>T (n.2292+1G>T)
c.2286+1G>T (n.2286+1G>T)
n.2168+1G>T
c.2214+1G>T (n.2214+1G>T)
c.2184+1G>T (n.2184+1G>T)
c.198+1G>T (n.198+1G>T)
c.2484+1G>T (n.2484+1G>T)
c.2493+1G>T (n.2493+1G>T)
c.1839+1G>T (n.1839+1G>T)
c.2283+1G>T (n.2283+1G>T)
 dbSNP gnomAD v4
9g.135775417T>ACA375512654KCNT1c.2349+2T>A (n.2349+2T>A)
c.2190+2T>A (n.2190+2T>A)
c.2097+2T>A (n.2097+2T>A)
c.2106+2T>A (n.2106+2T>A)
c.2250+2T>A (n.2250+2T>A)
c.*1959+2T>A (n.*1959+2T>A)
c.2232+2T>A (n.2232+2T>A)
c.2292+2T>A (n.2292+2T>A)
c.2286+2T>A (n.2286+2T>A)
n.2168+2T>A
c.2214+2T>A (n.2214+2T>A)
c.2184+2T>A (n.2184+2T>A)
c.198+2T>A (n.198+2T>A)
c.2484+2T>A (n.2484+2T>A)
c.2493+2T>A (n.2493+2T>A)
c.1839+2T>A (n.1839+2T>A)
c.2283+2T>A (n.2283+2T>A)
9g.135775417T>CCA375512656KCNT1c.2349+2T>C (n.2349+2T>C)
c.2190+2T>C (n.2190+2T>C)
c.2097+2T>C (n.2097+2T>C)
c.2106+2T>C (n.2106+2T>C)
c.2250+2T>C (n.2250+2T>C)
c.*1959+2T>C (n.*1959+2T>C)
c.2232+2T>C (n.2232+2T>C)
c.2292+2T>C (n.2292+2T>C)
c.2286+2T>C (n.2286+2T>C)
n.2168+2T>C
c.2214+2T>C (n.2214+2T>C)
c.2184+2T>C (n.2184+2T>C)
c.198+2T>C (n.198+2T>C)
c.2484+2T>C (n.2484+2T>C)
c.2493+2T>C (n.2493+2T>C)
c.1839+2T>C (n.1839+2T>C)
c.2283+2T>C (n.2283+2T>C)
9g.135775417T>GCA375512660KCNT1c.2349+2T>G (n.2349+2T>G)
c.2190+2T>G (n.2190+2T>G)
c.2097+2T>G (n.2097+2T>G)
c.2106+2T>G (n.2106+2T>G)
c.2250+2T>G (n.2250+2T>G)
c.*1959+2T>G (n.*1959+2T>G)
c.2232+2T>G (n.2232+2T>G)
c.2292+2T>G (n.2292+2T>G)
c.2286+2T>G (n.2286+2T>G)
n.2168+2T>G
c.2214+2T>G (n.2214+2T>G)
c.2184+2T>G (n.2184+2T>G)
c.198+2T>G (n.198+2T>G)
c.2484+2T>G (n.2484+2T>G)
c.2493+2T>G (n.2493+2T>G)
c.1839+2T>G (n.1839+2T>G)
c.2283+2T>G (n.2283+2T>G)
9g.135775419A=CA1883885024KCNT1c.2349+4A= (n.2349+4A=)
c.2190+4A= (n.2190+4A=)
c.2097+4A= (n.2097+4A=)
c.2106+4A= (n.2106+4A=)
c.2250+4A= (n.2250+4A=)
c.*1959+4A= (n.*1959+4A=)
c.2232+4A= (n.2232+4A=)
c.2292+4A= (n.2292+4A=)
c.2286+4A= (n.2286+4A=)
n.2168+4A=
c.2214+4A= (n.2214+4A=)
c.2184+4A= (n.2184+4A=)
c.198+4A= (n.198+4A=)
c.2484+4A= (n.2484+4A=)
c.2493+4A= (n.2493+4A=)
c.1839+4A= (n.1839+4A=)
c.2283+4A= (n.2283+4A=)
9g.135775419A>GCA5327261KCNT1c.2349+4A>G (n.2349+4A>G)
c.2190+4A>G (n.2190+4A>G)
c.2097+4A>G (n.2097+4A>G)
c.2106+4A>G (n.2106+4A>G)
c.2250+4A>G (n.2250+4A>G)
c.*1959+4A>G (n.*1959+4A>G)
c.2232+4A>G (n.2232+4A>G)
c.2292+4A>G (n.2292+4A>G)
c.2286+4A>G (n.2286+4A>G)
n.2168+4A>G
c.2214+4A>G (n.2214+4A>G)
c.2184+4A>G (n.2184+4A>G)
c.198+4A>G (n.198+4A>G)
c.2484+4A>G (n.2484+4A>G)
c.2493+4A>G (n.2493+4A>G)
c.1839+4A>G (n.1839+4A>G)
c.2283+4A>G (n.2283+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775421G=CA1883885025KCNT1c.2349+6G= (n.2349+6G=)
c.2190+6G= (n.2190+6G=)
c.2097+6G= (n.2097+6G=)
c.2106+6G= (n.2106+6G=)
c.2250+6G= (n.2250+6G=)
c.*1959+6G= (n.*1959+6G=)
c.2232+6G= (n.2232+6G=)
c.2292+6G= (n.2292+6G=)
c.2286+6G= (n.2286+6G=)
n.2168+6G=
c.2214+6G= (n.2214+6G=)
c.2184+6G= (n.2184+6G=)
c.198+6G= (n.198+6G=)
c.2484+6G= (n.2484+6G=)
c.2493+6G= (n.2493+6G=)
c.1839+6G= (n.1839+6G=)
c.2283+6G= (n.2283+6G=)
9g.135775421G>TCA860991916KCNT1c.2349+6G>T (n.2349+6G>T)
c.2190+6G>T (n.2190+6G>T)
c.2097+6G>T (n.2097+6G>T)
c.2106+6G>T (n.2106+6G>T)
c.2250+6G>T (n.2250+6G>T)
c.*1959+6G>T (n.*1959+6G>T)
c.2232+6G>T (n.2232+6G>T)
c.2292+6G>T (n.2292+6G>T)
c.2286+6G>T (n.2286+6G>T)
n.2168+6G>T
c.2214+6G>T (n.2214+6G>T)
c.2184+6G>T (n.2184+6G>T)
c.198+6G>T (n.198+6G>T)
c.2484+6G>T (n.2484+6G>T)
c.2493+6G>T (n.2493+6G>T)
c.1839+6G>T (n.1839+6G>T)
c.2283+6G>T (n.2283+6G>T)
 ClinVar dbSNP gnomAD v4
9g.135775422C>ACA2692518792KCNT1c.2349+7C>A (n.2349+7C>A)
c.2190+7C>A (n.2190+7C>A)
c.2097+7C>A (n.2097+7C>A)
c.2106+7C>A (n.2106+7C>A)
c.2250+7C>A (n.2250+7C>A)
c.*1959+7C>A (n.*1959+7C>A)
c.2232+7C>A (n.2232+7C>A)
c.2292+7C>A (n.2292+7C>A)
c.2286+7C>A (n.2286+7C>A)
n.2168+7C>A
c.2214+7C>A (n.2214+7C>A)
c.2184+7C>A (n.2184+7C>A)
c.198+7C>A (n.198+7C>A)
c.2484+7C>A (n.2484+7C>A)
c.2493+7C>A (n.2493+7C>A)
c.1839+7C>A (n.1839+7C>A)
c.2283+7C>A (n.2283+7C>A)
 gnomAD v4
9g.135775422C=CA1883885033KCNT1c.2349+7C= (n.2349+7C=)
c.2190+7C= (n.2190+7C=)
c.2097+7C= (n.2097+7C=)
c.2106+7C= (n.2106+7C=)
c.2250+7C= (n.2250+7C=)
c.*1959+7C= (n.*1959+7C=)
c.2232+7C= (n.2232+7C=)
c.2292+7C= (n.2292+7C=)
c.2286+7C= (n.2286+7C=)
n.2168+7C=
c.2214+7C= (n.2214+7C=)
c.2184+7C= (n.2184+7C=)
c.198+7C= (n.198+7C=)
c.2484+7C= (n.2484+7C=)
c.2493+7C= (n.2493+7C=)
c.1839+7C= (n.1839+7C=)
c.2283+7C= (n.2283+7C=)
9g.135775422C>TCA5327262KCNT1c.2349+7C>T (n.2349+7C>T)
c.2190+7C>T (n.2190+7C>T)
c.2097+7C>T (n.2097+7C>T)
c.2106+7C>T (n.2106+7C>T)
c.2250+7C>T (n.2250+7C>T)
c.*1959+7C>T (n.*1959+7C>T)
c.2232+7C>T (n.2232+7C>T)
c.2292+7C>T (n.2292+7C>T)
c.2286+7C>T (n.2286+7C>T)
n.2168+7C>T
c.2214+7C>T (n.2214+7C>T)
c.2184+7C>T (n.2184+7C>T)
c.198+7C>T (n.198+7C>T)
c.2484+7C>T (n.2484+7C>T)
c.2493+7C>T (n.2493+7C>T)
c.1839+7C>T (n.1839+7C>T)
c.2283+7C>T (n.2283+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775422_135775423delinsCTCA1883885034KCNT1c.2349+7_2349+8delinsCT (n.2349+7_2349+8delinsCT)
c.2190+7_2190+8delinsCT (n.2190+7_2190+8delinsCT)
c.2097+7_2097+8delinsCT (n.2097+7_2097+8delinsCT)
c.2106+7_2106+8delinsCT (n.2106+7_2106+8delinsCT)
c.2250+7_2250+8delinsCT (n.2250+7_2250+8delinsCT)
c.*1959+7_*1959+8delinsCT (n.*1959+7_*1959+8delinsCT)
c.2232+7_2232+8delinsCT (n.2232+7_2232+8delinsCT)
c.2292+7_2292+8delinsCT (n.2292+7_2292+8delinsCT)
c.2286+7_2286+8delinsCT (n.2286+7_2286+8delinsCT)
n.2168+7_2168+8delinsCT
c.2214+7_2214+8delinsCT (n.2214+7_2214+8delinsCT)
c.2184+7_2184+8delinsCT (n.2184+7_2184+8delinsCT)
c.198+7_198+8delinsCT (n.198+7_198+8delinsCT)
c.2484+7_2484+8delinsCT (n.2484+7_2484+8delinsCT)
c.2493+7_2493+8delinsCT (n.2493+7_2493+8delinsCT)
c.1839+7_1839+8delinsCT (n.1839+7_1839+8delinsCT)
c.2283+7_2283+8delinsCT (n.2283+7_2283+8delinsCT)
9g.135775423delCA5327263KCNT1c.2349+8del (n.2349+8del)
c.2190+8del (n.2190+8del)
c.2097+8del (n.2097+8del)
c.2106+8del (n.2106+8del)
c.2250+8del (n.2250+8del)
c.*1959+8del (n.*1959+8del)
c.2232+8del (n.2232+8del)
c.2292+8del (n.2292+8del)
c.2286+8del (n.2286+8del)
n.2168+8del
c.2214+8del (n.2214+8del)
c.2184+8del (n.2184+8del)
c.198+8del (n.198+8del)
c.2484+8del (n.2484+8del)
c.2493+8del (n.2493+8del)
c.1839+8del (n.1839+8del)
c.2283+8del (n.2283+8del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775424G>ACA2692518793KCNT1c.2349+9G>A (n.2349+9G>A)
c.2190+9G>A (n.2190+9G>A)
c.2097+9G>A (n.2097+9G>A)
c.2106+9G>A (n.2106+9G>A)
c.2250+9G>A (n.2250+9G>A)
c.*1959+9G>A (n.*1959+9G>A)
c.2232+9G>A (n.2232+9G>A)
c.2292+9G>A (n.2292+9G>A)
c.2286+9G>A (n.2286+9G>A)
n.2168+9G>A
c.2214+9G>A (n.2214+9G>A)
c.2184+9G>A (n.2184+9G>A)
c.198+9G>A (n.198+9G>A)
c.2484+9G>A (n.2484+9G>A)
c.2493+9G>A (n.2493+9G>A)
c.1839+9G>A (n.1839+9G>A)
c.2283+9G>A (n.2283+9G>A)
 gnomAD v4
9g.135775425G>CCA5327264KCNT1c.2349+10G>C (n.2349+10G>C)
c.2190+10G>C (n.2190+10G>C)
c.2097+10G>C (n.2097+10G>C)
c.2106+10G>C (n.2106+10G>C)
c.2250+10G>C (n.2250+10G>C)
c.*1959+10G>C (n.*1959+10G>C)
c.2232+10G>C (n.2232+10G>C)
c.2292+10G>C (n.2292+10G>C)
c.2286+10G>C (n.2286+10G>C)
n.2168+10G>C
c.2214+10G>C (n.2214+10G>C)
c.2184+10G>C (n.2184+10G>C)
c.198+10G>C (n.198+10G>C)
c.2484+10G>C (n.2484+10G>C)
c.2493+10G>C (n.2493+10G>C)
c.1839+10G>C (n.1839+10G>C)
c.2283+10G>C (n.2283+10G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775425G=CA1883885042KCNT1c.2349+10G= (n.2349+10G=)
c.2190+10G= (n.2190+10G=)
c.2097+10G= (n.2097+10G=)
c.2106+10G= (n.2106+10G=)
c.2250+10G= (n.2250+10G=)
c.*1959+10G= (n.*1959+10G=)
c.2232+10G= (n.2232+10G=)
c.2292+10G= (n.2292+10G=)
c.2286+10G= (n.2286+10G=)
n.2168+10G=
c.2214+10G= (n.2214+10G=)
c.2184+10G= (n.2184+10G=)
c.198+10G= (n.198+10G=)
c.2484+10G= (n.2484+10G=)
c.2493+10G= (n.2493+10G=)
c.1839+10G= (n.1839+10G=)
c.2283+10G= (n.2283+10G=)
9g.135775426C>ACA5327266KCNT1c.2349+11C>A (n.2349+11C>A)
c.2190+11C>A (n.2190+11C>A)
c.2097+11C>A (n.2097+11C>A)
c.2106+11C>A (n.2106+11C>A)
c.2250+11C>A (n.2250+11C>A)
c.*1959+11C>A (n.*1959+11C>A)
c.2232+11C>A (n.2232+11C>A)
c.2292+11C>A (n.2292+11C>A)
c.2286+11C>A (n.2286+11C>A)
n.2168+11C>A
c.2214+11C>A (n.2214+11C>A)
c.2184+11C>A (n.2184+11C>A)
c.198+11C>A (n.198+11C>A)
c.2484+11C>A (n.2484+11C>A)
c.2493+11C>A (n.2493+11C>A)
c.1839+11C>A (n.1839+11C>A)
c.2283+11C>A (n.2283+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135775426C=CA1883885048KCNT1c.2349+11C= (n.2349+11C=)
c.2190+11C= (n.2190+11C=)
c.2097+11C= (n.2097+11C=)
c.2106+11C= (n.2106+11C=)
c.2250+11C= (n.2250+11C=)
c.*1959+11C= (n.*1959+11C=)
c.2232+11C= (n.2232+11C=)
c.2292+11C= (n.2292+11C=)
c.2286+11C= (n.2286+11C=)
n.2168+11C=
c.2214+11C= (n.2214+11C=)
c.2184+11C= (n.2184+11C=)
c.198+11C= (n.198+11C=)
c.2484+11C= (n.2484+11C=)
c.2493+11C= (n.2493+11C=)
c.1839+11C= (n.1839+11C=)
c.2283+11C= (n.2283+11C=)
9g.135775426C>GCA1883885051KCNT1c.2349+11C>G (n.2349+11C>G)
c.2190+11C>G (n.2190+11C>G)
c.2097+11C>G (n.2097+11C>G)
c.2106+11C>G (n.2106+11C>G)
c.2250+11C>G (n.2250+11C>G)
c.*1959+11C>G (n.*1959+11C>G)
c.2232+11C>G (n.2232+11C>G)
c.2292+11C>G (n.2292+11C>G)
c.2286+11C>G (n.2286+11C>G)
n.2168+11C>G
c.2214+11C>G (n.2214+11C>G)
c.2184+11C>G (n.2184+11C>G)
c.198+11C>G (n.198+11C>G)
c.2484+11C>G (n.2484+11C>G)
c.2493+11C>G (n.2493+11C>G)
c.1839+11C>G (n.1839+11C>G)
c.2283+11C>G (n.2283+11C>G)
 dbSNP
9g.135775426C>TCA5327265KCNT1c.2349+11C>T (n.2349+11C>T)
c.2190+11C>T (n.2190+11C>T)
c.2097+11C>T (n.2097+11C>T)
c.2106+11C>T (n.2106+11C>T)
c.2250+11C>T (n.2250+11C>T)
c.*1959+11C>T (n.*1959+11C>T)
c.2232+11C>T (n.2232+11C>T)
c.2292+11C>T (n.2292+11C>T)
c.2286+11C>T (n.2286+11C>T)
n.2168+11C>T
c.2214+11C>T (n.2214+11C>T)
c.2184+11C>T (n.2184+11C>T)
c.198+11C>T (n.198+11C>T)
c.2484+11C>T (n.2484+11C>T)
c.2493+11C>T (n.2493+11C>T)
c.1839+11C>T (n.1839+11C>T)
c.2283+11C>T (n.2283+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135775427G>ACA5327267KCNT1c.2349+12G>A (n.2349+12G>A)
c.2190+12G>A (n.2190+12G>A)
c.2097+12G>A (n.2097+12G>A)
c.2106+12G>A (n.2106+12G>A)
c.2250+12G>A (n.2250+12G>A)
c.*1959+12G>A (n.*1959+12G>A)
c.2232+12G>A (n.2232+12G>A)
c.2292+12G>A (n.2292+12G>A)
c.2286+12G>A (n.2286+12G>A)
n.2168+12G>A
c.2214+12G>A (n.2214+12G>A)
c.2184+12G>A (n.2184+12G>A)
c.198+12G>A (n.198+12G>A)
c.2484+12G>A (n.2484+12G>A)
c.2493+12G>A (n.2493+12G>A)
c.1839+12G>A (n.1839+12G>A)
c.2283+12G>A (n.2283+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775427G=CA1883885061KCNT1c.2349+12G= (n.2349+12G=)
c.2190+12G= (n.2190+12G=)
c.2097+12G= (n.2097+12G=)
c.2106+12G= (n.2106+12G=)
c.2250+12G= (n.2250+12G=)
c.*1959+12G= (n.*1959+12G=)
c.2232+12G= (n.2232+12G=)
c.2292+12G= (n.2292+12G=)
c.2286+12G= (n.2286+12G=)
n.2168+12G=
c.2214+12G= (n.2214+12G=)
c.2184+12G= (n.2184+12G=)
c.198+12G= (n.198+12G=)
c.2484+12G= (n.2484+12G=)
c.2493+12G= (n.2493+12G=)
c.1839+12G= (n.1839+12G=)
c.2283+12G= (n.2283+12G=)
9g.135775428G>ACA2579511274KCNT1c.2349+13G>A (n.2349+13G>A)
c.2190+13G>A (n.2190+13G>A)
c.2097+13G>A (n.2097+13G>A)
c.2106+13G>A (n.2106+13G>A)
c.2250+13G>A (n.2250+13G>A)
c.*1959+13G>A (n.*1959+13G>A)
c.2232+13G>A (n.2232+13G>A)
c.2292+13G>A (n.2292+13G>A)
c.2286+13G>A (n.2286+13G>A)
n.2168+13G>A
c.2214+13G>A (n.2214+13G>A)
c.2184+13G>A (n.2184+13G>A)
c.198+13G>A (n.198+13G>A)
c.2484+13G>A (n.2484+13G>A)
c.2493+13G>A (n.2493+13G>A)
c.1839+13G>A (n.1839+13G>A)
c.2283+13G>A (n.2283+13G>A)
 gnomAD v4
9g.135775435_135775444delCA2692518794KCNT1c.2349+20_2349+29del (n.2349+20_2349+29del)
c.2190+20_2190+29del (n.2190+20_2190+29del)
c.2097+20_2097+29del (n.2097+20_2097+29del)
c.2106+20_2106+29del (n.2106+20_2106+29del)
c.2250+20_2250+29del (n.2250+20_2250+29del)
c.*1959+20_*1959+29del (n.*1959+20_*1959+29del)
c.2232+20_2232+29del (n.2232+20_2232+29del)
c.2292+20_2292+29del (n.2292+20_2292+29del)
c.2286+20_2286+29del (n.2286+20_2286+29del)
n.2168+20_2168+29del
c.2214+20_2214+29del (n.2214+20_2214+29del)
c.2184+20_2184+29del (n.2184+20_2184+29del)
c.198+20_198+29del (n.198+20_198+29del)
c.2484+20_2484+29del (n.2484+20_2484+29del)
c.2493+20_2493+29del (n.2493+20_2493+29del)
c.1839+20_1839+29del (n.1839+20_1839+29del)
c.2283+20_2283+29del (n.2283+20_2283+29del)
 gnomAD v4
9g.135775429C>TCA2579511275KCNT1c.2349+14C>T (n.2349+14C>T)
c.2190+14C>T (n.2190+14C>T)
c.2097+14C>T (n.2097+14C>T)
c.2106+14C>T (n.2106+14C>T)
c.2250+14C>T (n.2250+14C>T)
c.*1959+14C>T (n.*1959+14C>T)
c.2232+14C>T (n.2232+14C>T)
c.2292+14C>T (n.2292+14C>T)
c.2286+14C>T (n.2286+14C>T)
n.2168+14C>T
c.2214+14C>T (n.2214+14C>T)
c.2184+14C>T (n.2184+14C>T)
c.198+14C>T (n.198+14C>T)
c.2484+14C>T (n.2484+14C>T)
c.2493+14C>T (n.2493+14C>T)
c.1839+14C>T (n.1839+14C>T)
c.2283+14C>T (n.2283+14C>T)
9g.135775430T>ACA2692518795KCNT1c.2349+15T>A (n.2349+15T>A)
c.2190+15T>A (n.2190+15T>A)
c.2097+15T>A (n.2097+15T>A)
c.2106+15T>A (n.2106+15T>A)
c.2250+15T>A (n.2250+15T>A)
c.*1959+15T>A (n.*1959+15T>A)
c.2232+15T>A (n.2232+15T>A)
c.2292+15T>A (n.2292+15T>A)
c.2286+15T>A (n.2286+15T>A)
n.2168+15T>A
c.2214+15T>A (n.2214+15T>A)
c.2184+15T>A (n.2184+15T>A)
c.198+15T>A (n.198+15T>A)
c.2484+15T>A (n.2484+15T>A)
c.2493+15T>A (n.2493+15T>A)
c.1839+15T>A (n.1839+15T>A)
c.2283+15T>A (n.2283+15T>A)
 gnomAD v4
9g.135775430T>CCA2692518796KCNT1c.2349+15T>C (n.2349+15T>C)
c.2190+15T>C (n.2190+15T>C)
c.2097+15T>C (n.2097+15T>C)
c.2106+15T>C (n.2106+15T>C)
c.2250+15T>C (n.2250+15T>C)
c.*1959+15T>C (n.*1959+15T>C)
c.2232+15T>C (n.2232+15T>C)
c.2292+15T>C (n.2292+15T>C)
c.2286+15T>C (n.2286+15T>C)
n.2168+15T>C
c.2214+15T>C (n.2214+15T>C)
c.2184+15T>C (n.2184+15T>C)
c.198+15T>C (n.198+15T>C)
c.2484+15T>C (n.2484+15T>C)
c.2493+15T>C (n.2493+15T>C)
c.1839+15T>C (n.1839+15T>C)
c.2283+15T>C (n.2283+15T>C)
 gnomAD v4
9g.135775431C=CA1883885062KCNT1c.2349+16C= (n.2349+16C=)
c.2190+16C= (n.2190+16C=)
c.2097+16C= (n.2097+16C=)
c.2106+16C= (n.2106+16C=)
c.2250+16C= (n.2250+16C=)
c.*1959+16C= (n.*1959+16C=)
c.2232+16C= (n.2232+16C=)
c.2292+16C= (n.2292+16C=)
c.2286+16C= (n.2286+16C=)
n.2168+16C=
c.2214+16C= (n.2214+16C=)
c.2184+16C= (n.2184+16C=)
c.198+16C= (n.198+16C=)
c.2484+16C= (n.2484+16C=)
c.2493+16C= (n.2493+16C=)
c.1839+16C= (n.1839+16C=)
c.2283+16C= (n.2283+16C=)
9g.135775431C>GCA1129972603KCNT1c.2349+16C>G (n.2349+16C>G)
c.2190+16C>G (n.2190+16C>G)
c.2097+16C>G (n.2097+16C>G)
c.2106+16C>G (n.2106+16C>G)
c.2250+16C>G (n.2250+16C>G)
c.*1959+16C>G (n.*1959+16C>G)
c.2232+16C>G (n.2232+16C>G)
c.2292+16C>G (n.2292+16C>G)
c.2286+16C>G (n.2286+16C>G)
n.2168+16C>G
c.2214+16C>G (n.2214+16C>G)
c.2184+16C>G (n.2184+16C>G)
c.198+16C>G (n.198+16C>G)
c.2484+16C>G (n.2484+16C>G)
c.2493+16C>G (n.2493+16C>G)
c.1839+16C>G (n.1839+16C>G)
c.2283+16C>G (n.2283+16C>G)
 dbSNP gnomAD v3 gnomAD v4
9g.135775432T>ACA2692518797KCNT1c.2349+17T>A (n.2349+17T>A)
c.2190+17T>A (n.2190+17T>A)
c.2097+17T>A (n.2097+17T>A)
c.2106+17T>A (n.2106+17T>A)
c.2250+17T>A (n.2250+17T>A)
c.*1959+17T>A (n.*1959+17T>A)
c.2232+17T>A (n.2232+17T>A)
c.2292+17T>A (n.2292+17T>A)
c.2286+17T>A (n.2286+17T>A)
n.2168+17T>A
c.2214+17T>A (n.2214+17T>A)
c.2184+17T>A (n.2184+17T>A)
c.198+17T>A (n.198+17T>A)
c.2484+17T>A (n.2484+17T>A)
c.2493+17T>A (n.2493+17T>A)
c.1839+17T>A (n.1839+17T>A)
c.2283+17T>A (n.2283+17T>A)
 gnomAD v4
9g.135775433G>ACA2692518798KCNT1c.2349+18G>A (n.2349+18G>A)
c.2190+18G>A (n.2190+18G>A)
c.2097+18G>A (n.2097+18G>A)
c.2106+18G>A (n.2106+18G>A)
c.2250+18G>A (n.2250+18G>A)
c.*1959+18G>A (n.*1959+18G>A)
c.2232+18G>A (n.2232+18G>A)
c.2292+18G>A (n.2292+18G>A)
c.2286+18G>A (n.2286+18G>A)
n.2168+18G>A
c.2214+18G>A (n.2214+18G>A)
c.2184+18G>A (n.2184+18G>A)
c.198+18G>A (n.198+18G>A)
c.2484+18G>A (n.2484+18G>A)
c.2493+18G>A (n.2493+18G>A)
c.1839+18G>A (n.1839+18G>A)
c.2283+18G>A (n.2283+18G>A)
 gnomAD v4
9g.135775434C>ACA2692518799KCNT1c.2349+19C>A (n.2349+19C>A)
c.2190+19C>A (n.2190+19C>A)
c.2097+19C>A (n.2097+19C>A)
c.2106+19C>A (n.2106+19C>A)
c.2250+19C>A (n.2250+19C>A)
c.*1959+19C>A (n.*1959+19C>A)
c.2232+19C>A (n.2232+19C>A)
c.2292+19C>A (n.2292+19C>A)
c.2286+19C>A (n.2286+19C>A)
n.2168+19C>A
c.2214+19C>A (n.2214+19C>A)
c.2184+19C>A (n.2184+19C>A)
c.198+19C>A (n.198+19C>A)
c.2484+19C>A (n.2484+19C>A)
c.2493+19C>A (n.2493+19C>A)
c.1839+19C>A (n.1839+19C>A)
c.2283+19C>A (n.2283+19C>A)
 gnomAD v4
9g.135775434C>TCA2692518800KCNT1c.2349+19C>T (n.2349+19C>T)
c.2190+19C>T (n.2190+19C>T)
c.2097+19C>T (n.2097+19C>T)
c.2106+19C>T (n.2106+19C>T)
c.2250+19C>T (n.2250+19C>T)
c.*1959+19C>T (n.*1959+19C>T)
c.2232+19C>T (n.2232+19C>T)
c.2292+19C>T (n.2292+19C>T)
c.2286+19C>T (n.2286+19C>T)
n.2168+19C>T
c.2214+19C>T (n.2214+19C>T)
c.2184+19C>T (n.2184+19C>T)
c.198+19C>T (n.198+19C>T)
c.2484+19C>T (n.2484+19C>T)
c.2493+19C>T (n.2493+19C>T)
c.1839+19C>T (n.1839+19C>T)
c.2283+19C>T (n.2283+19C>T)
 ClinVar gnomAD v4
9g.135775435C=CA1883885064KCNT1c.2349+20C= (n.2349+20C=)
c.2190+20C= (n.2190+20C=)
c.2097+20C= (n.2097+20C=)
c.2106+20C= (n.2106+20C=)
c.2250+20C= (n.2250+20C=)
c.*1959+20C= (n.*1959+20C=)
c.2232+20C= (n.2232+20C=)
c.2292+20C= (n.2292+20C=)
c.2286+20C= (n.2286+20C=)
n.2168+20C=
c.2214+20C= (n.2214+20C=)
c.2184+20C= (n.2184+20C=)
c.198+20C= (n.198+20C=)
c.2484+20C= (n.2484+20C=)
c.2493+20C= (n.2493+20C=)
c.1839+20C= (n.1839+20C=)
c.2283+20C= (n.2283+20C=)
9g.135775435C>TCA5327268KCNT1c.2349+20C>T (n.2349+20C>T)
c.2190+20C>T (n.2190+20C>T)
c.2097+20C>T (n.2097+20C>T)
c.2106+20C>T (n.2106+20C>T)
c.2250+20C>T (n.2250+20C>T)
c.*1959+20C>T (n.*1959+20C>T)
c.2232+20C>T (n.2232+20C>T)
c.2292+20C>T (n.2292+20C>T)
c.2286+20C>T (n.2286+20C>T)
n.2168+20C>T
c.2214+20C>T (n.2214+20C>T)
c.2184+20C>T (n.2184+20C>T)
c.198+20C>T (n.198+20C>T)
c.2484+20C>T (n.2484+20C>T)
c.2493+20C>T (n.2493+20C>T)
c.1839+20C>T (n.1839+20C>T)
c.2283+20C>T (n.2283+20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775436G>ACA201476164KCNT1c.2349+21G>A (n.2349+21G>A)
c.2190+21G>A (n.2190+21G>A)
c.2097+21G>A (n.2097+21G>A)
c.2106+21G>A (n.2106+21G>A)
c.2250+21G>A (n.2250+21G>A)
c.*1959+21G>A (n.*1959+21G>A)
c.2232+21G>A (n.2232+21G>A)
c.2292+21G>A (n.2292+21G>A)
c.2286+21G>A (n.2286+21G>A)
n.2168+21G>A
c.2214+21G>A (n.2214+21G>A)
c.2184+21G>A (n.2184+21G>A)
c.198+21G>A (n.198+21G>A)
c.2484+21G>A (n.2484+21G>A)
c.2493+21G>A (n.2493+21G>A)
c.1839+21G>A (n.1839+21G>A)
c.2283+21G>A (n.2283+21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135775436G=CA1883885066KCNT1c.2349+21G= (n.2349+21G=)
c.2190+21G= (n.2190+21G=)
c.2097+21G= (n.2097+21G=)
c.2106+21G= (n.2106+21G=)
c.2250+21G= (n.2250+21G=)
c.*1959+21G= (n.*1959+21G=)
c.2232+21G= (n.2232+21G=)
c.2292+21G= (n.2292+21G=)
c.2286+21G= (n.2286+21G=)
n.2168+21G=
c.2214+21G= (n.2214+21G=)
c.2184+21G= (n.2184+21G=)
c.198+21G= (n.198+21G=)
c.2484+21G= (n.2484+21G=)
c.2493+21G= (n.2493+21G=)
c.1839+21G= (n.1839+21G=)
c.2283+21G= (n.2283+21G=)
9g.135775437C=CA1883885067KCNT1c.2349+22C= (n.2349+22C=)
c.2190+22C= (n.2190+22C=)
c.2097+22C= (n.2097+22C=)
c.2106+22C= (n.2106+22C=)
c.2250+22C= (n.2250+22C=)
c.*1959+22C= (n.*1959+22C=)
c.2232+22C= (n.2232+22C=)
c.2292+22C= (n.2292+22C=)
c.2286+22C= (n.2286+22C=)
n.2168+22C=
c.2214+22C= (n.2214+22C=)
c.2184+22C= (n.2184+22C=)
c.198+22C= (n.198+22C=)
c.2484+22C= (n.2484+22C=)
c.2493+22C= (n.2493+22C=)
c.1839+22C= (n.1839+22C=)
c.2283+22C= (n.2283+22C=)
9g.135775437C>GCA201476167KCNT1c.2349+22C>G (n.2349+22C>G)
c.2190+22C>G (n.2190+22C>G)
c.2097+22C>G (n.2097+22C>G)
c.2106+22C>G (n.2106+22C>G)
c.2250+22C>G (n.2250+22C>G)
c.*1959+22C>G (n.*1959+22C>G)
c.2232+22C>G (n.2232+22C>G)
c.2292+22C>G (n.2292+22C>G)
c.2286+22C>G (n.2286+22C>G)
n.2168+22C>G
c.2214+22C>G (n.2214+22C>G)
c.2184+22C>G (n.2184+22C>G)
c.198+22C>G (n.198+22C>G)
c.2484+22C>G (n.2484+22C>G)
c.2493+22C>G (n.2493+22C>G)
c.1839+22C>G (n.1839+22C>G)
c.2283+22C>G (n.2283+22C>G)
 dbSNP
9g.135775437C>TCA5327269KCNT1c.2349+22C>T (n.2349+22C>T)
c.2190+22C>T (n.2190+22C>T)
c.2097+22C>T (n.2097+22C>T)
c.2106+22C>T (n.2106+22C>T)
c.2250+22C>T (n.2250+22C>T)
c.*1959+22C>T (n.*1959+22C>T)
c.2232+22C>T (n.2232+22C>T)
c.2292+22C>T (n.2292+22C>T)
c.2286+22C>T (n.2286+22C>T)
n.2168+22C>T
c.2214+22C>T (n.2214+22C>T)
c.2184+22C>T (n.2184+22C>T)
c.198+22C>T (n.198+22C>T)
c.2484+22C>T (n.2484+22C>T)
c.2493+22C>T (n.2493+22C>T)
c.1839+22C>T (n.1839+22C>T)
c.2283+22C>T (n.2283+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775437_135775438insCACA2692518801KCNT1c.2349+22_2349+23insCA (n.2349+22_2349+23insCA)
c.2190+22_2190+23insCA (n.2190+22_2190+23insCA)
c.2097+22_2097+23insCA (n.2097+22_2097+23insCA)
c.2106+22_2106+23insCA (n.2106+22_2106+23insCA)
c.2250+22_2250+23insCA (n.2250+22_2250+23insCA)
c.*1959+22_*1959+23insCA (n.*1959+22_*1959+23insCA)
c.2232+22_2232+23insCA (n.2232+22_2232+23insCA)
c.2292+22_2292+23insCA (n.2292+22_2292+23insCA)
c.2286+22_2286+23insCA (n.2286+22_2286+23insCA)
n.2168+22_2168+23insCA
c.2214+22_2214+23insCA (n.2214+22_2214+23insCA)
c.2184+22_2184+23insCA (n.2184+22_2184+23insCA)
c.198+22_198+23insCA (n.198+22_198+23insCA)
c.2484+22_2484+23insCA (n.2484+22_2484+23insCA)
c.2493+22_2493+23insCA (n.2493+22_2493+23insCA)
c.1839+22_1839+23insCA (n.1839+22_1839+23insCA)
c.2283+22_2283+23insCA (n.2283+22_2283+23insCA)
 gnomAD v4
9g.135775438G>ACA5327270KCNT1c.2349+23G>A (n.2349+23G>A)
c.2190+23G>A (n.2190+23G>A)
c.2097+23G>A (n.2097+23G>A)
c.2106+23G>A (n.2106+23G>A)
c.2250+23G>A (n.2250+23G>A)
c.*1959+23G>A (n.*1959+23G>A)
c.2232+23G>A (n.2232+23G>A)
c.2292+23G>A (n.2292+23G>A)
c.2286+23G>A (n.2286+23G>A)
n.2168+23G>A
c.2214+23G>A (n.2214+23G>A)
c.2184+23G>A (n.2184+23G>A)
c.198+23G>A (n.198+23G>A)
c.2484+23G>A (n.2484+23G>A)
c.2493+23G>A (n.2493+23G>A)
c.1839+23G>A (n.1839+23G>A)
c.2283+23G>A (n.2283+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775438G=CA1883885069KCNT1c.2349+23G= (n.2349+23G=)
c.2190+23G= (n.2190+23G=)
c.2097+23G= (n.2097+23G=)
c.2106+23G= (n.2106+23G=)
c.2250+23G= (n.2250+23G=)
c.*1959+23G= (n.*1959+23G=)
c.2232+23G= (n.2232+23G=)
c.2292+23G= (n.2292+23G=)
c.2286+23G= (n.2286+23G=)
n.2168+23G=
c.2214+23G= (n.2214+23G=)
c.2184+23G= (n.2184+23G=)
c.198+23G= (n.198+23G=)
c.2484+23G= (n.2484+23G=)
c.2493+23G= (n.2493+23G=)
c.1839+23G= (n.1839+23G=)
c.2283+23G= (n.2283+23G=)
9g.135775438G>TCA201476172KCNT1c.2349+23G>T (n.2349+23G>T)
c.2190+23G>T (n.2190+23G>T)
c.2097+23G>T (n.2097+23G>T)
c.2106+23G>T (n.2106+23G>T)
c.2250+23G>T (n.2250+23G>T)
c.*1959+23G>T (n.*1959+23G>T)
c.2232+23G>T (n.2232+23G>T)
c.2292+23G>T (n.2292+23G>T)
c.2286+23G>T (n.2286+23G>T)
n.2168+23G>T
c.2214+23G>T (n.2214+23G>T)
c.2184+23G>T (n.2184+23G>T)
c.198+23G>T (n.198+23G>T)
c.2484+23G>T (n.2484+23G>T)
c.2493+23G>T (n.2493+23G>T)
c.1839+23G>T (n.1839+23G>T)
c.2283+23G>T (n.2283+23G>T)
 dbSNP gnomAD v4
9g.135775439C>ACA2579511277KCNT1c.2349+24C>A (n.2349+24C>A)
c.2190+24C>A (n.2190+24C>A)
c.2097+24C>A (n.2097+24C>A)
c.2106+24C>A (n.2106+24C>A)
c.2250+24C>A (n.2250+24C>A)
c.*1959+24C>A (n.*1959+24C>A)
c.2232+24C>A (n.2232+24C>A)
c.2292+24C>A (n.2292+24C>A)
c.2286+24C>A (n.2286+24C>A)
n.2168+24C>A
c.2214+24C>A (n.2214+24C>A)
c.2184+24C>A (n.2184+24C>A)
c.198+24C>A (n.198+24C>A)
c.2484+24C>A (n.2484+24C>A)
c.2493+24C>A (n.2493+24C>A)
c.1839+24C>A (n.1839+24C>A)
c.2283+24C>A (n.2283+24C>A)
 gnomAD v4
9g.135775439C=CA1883885073KCNT1c.2349+24C= (n.2349+24C=)
c.2190+24C= (n.2190+24C=)
c.2097+24C= (n.2097+24C=)
c.2106+24C= (n.2106+24C=)
c.2250+24C= (n.2250+24C=)
c.*1959+24C= (n.*1959+24C=)
c.2232+24C= (n.2232+24C=)
c.2292+24C= (n.2292+24C=)
c.2286+24C= (n.2286+24C=)
n.2168+24C=
c.2214+24C= (n.2214+24C=)
c.2184+24C= (n.2184+24C=)
c.198+24C= (n.198+24C=)
c.2484+24C= (n.2484+24C=)
c.2493+24C= (n.2493+24C=)
c.1839+24C= (n.1839+24C=)
c.2283+24C= (n.2283+24C=)
9g.135775439C>GCA5327271KCNT1c.2349+24C>G (n.2349+24C>G)
c.2190+24C>G (n.2190+24C>G)
c.2097+24C>G (n.2097+24C>G)
c.2106+24C>G (n.2106+24C>G)
c.2250+24C>G (n.2250+24C>G)
c.*1959+24C>G (n.*1959+24C>G)
c.2232+24C>G (n.2232+24C>G)
c.2292+24C>G (n.2292+24C>G)
c.2286+24C>G (n.2286+24C>G)
n.2168+24C>G
c.2214+24C>G (n.2214+24C>G)
c.2184+24C>G (n.2184+24C>G)
c.198+24C>G (n.198+24C>G)
c.2484+24C>G (n.2484+24C>G)
c.2493+24C>G (n.2493+24C>G)
c.1839+24C>G (n.1839+24C>G)
c.2283+24C>G (n.2283+24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135775439C>TCA2579511278KCNT1c.2349+24C>T (n.2349+24C>T)
c.2190+24C>T (n.2190+24C>T)
c.2097+24C>T (n.2097+24C>T)
c.2106+24C>T (n.2106+24C>T)
c.2250+24C>T (n.2250+24C>T)
c.*1959+24C>T (n.*1959+24C>T)
c.2232+24C>T (n.2232+24C>T)
c.2292+24C>T (n.2292+24C>T)
c.2286+24C>T (n.2286+24C>T)
n.2168+24C>T
c.2214+24C>T (n.2214+24C>T)
c.2184+24C>T (n.2184+24C>T)
c.198+24C>T (n.198+24C>T)
c.2484+24C>T (n.2484+24C>T)
c.2493+24C>T (n.2493+24C>T)
c.1839+24C>T (n.1839+24C>T)
c.2283+24C>T (n.2283+24C>T)
9g.135775440T>CCA2579511279KCNT1c.2349+25T>C (n.2349+25T>C)
c.2190+25T>C (n.2190+25T>C)
c.2097+25T>C (n.2097+25T>C)
c.2106+25T>C (n.2106+25T>C)
c.2250+25T>C (n.2250+25T>C)
c.*1959+25T>C (n.*1959+25T>C)
c.2232+25T>C (n.2232+25T>C)
c.2292+25T>C (n.2292+25T>C)
c.2286+25T>C (n.2286+25T>C)
n.2168+25T>C
c.2214+25T>C (n.2214+25T>C)
c.2184+25T>C (n.2184+25T>C)
c.198+25T>C (n.198+25T>C)
c.2484+25T>C (n.2484+25T>C)
c.2493+25T>C (n.2493+25T>C)
c.1839+25T>C (n.1839+25T>C)
c.2283+25T>C (n.2283+25T>C)
 gnomAD v4
9g.135775441C>ACA2692518802KCNT1c.2349+26C>A (n.2349+26C>A)
c.2190+26C>A (n.2190+26C>A)
c.2097+26C>A (n.2097+26C>A)
c.2106+26C>A (n.2106+26C>A)
c.2250+26C>A (n.2250+26C>A)
c.*1959+26C>A (n.*1959+26C>A)
c.2232+26C>A (n.2232+26C>A)
c.2292+26C>A (n.2292+26C>A)
c.2286+26C>A (n.2286+26C>A)
n.2168+26C>A
c.2214+26C>A (n.2214+26C>A)
c.2184+26C>A (n.2184+26C>A)
c.198+26C>A (n.198+26C>A)
c.2484+26C>A (n.2484+26C>A)
c.2493+26C>A (n.2493+26C>A)
c.1839+26C>A (n.1839+26C>A)
c.2283+26C>A (n.2283+26C>A)
 gnomAD v4
9g.135775441C=CA1883885075KCNT1c.2349+26C= (n.2349+26C=)
c.2190+26C= (n.2190+26C=)
c.2097+26C= (n.2097+26C=)
c.2106+26C= (n.2106+26C=)
c.2250+26C= (n.2250+26C=)
c.*1959+26C= (n.*1959+26C=)
c.2232+26C= (n.2232+26C=)
c.2292+26C= (n.2292+26C=)
c.2286+26C= (n.2286+26C=)
n.2168+26C=
c.2214+26C= (n.2214+26C=)
c.2184+26C= (n.2184+26C=)
c.198+26C= (n.198+26C=)
c.2484+26C= (n.2484+26C=)
c.2493+26C= (n.2493+26C=)
c.1839+26C= (n.1839+26C=)
c.2283+26C= (n.2283+26C=)
9g.135775441C>TCA1129972613KCNT1c.2349+26C>T (n.2349+26C>T)
c.2190+26C>T (n.2190+26C>T)
c.2097+26C>T (n.2097+26C>T)
c.2106+26C>T (n.2106+26C>T)
c.2250+26C>T (n.2250+26C>T)
c.*1959+26C>T (n.*1959+26C>T)
c.2232+26C>T (n.2232+26C>T)
c.2292+26C>T (n.2292+26C>T)
c.2286+26C>T (n.2286+26C>T)
n.2168+26C>T
c.2214+26C>T (n.2214+26C>T)
c.2184+26C>T (n.2184+26C>T)
c.198+26C>T (n.198+26C>T)
c.2484+26C>T (n.2484+26C>T)
c.2493+26C>T (n.2493+26C>T)
c.1839+26C>T (n.1839+26C>T)
c.2283+26C>T (n.2283+26C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.135775442T>CCA2692518803KCNT1c.2349+27T>C (n.2349+27T>C)
c.2190+27T>C (n.2190+27T>C)
c.2097+27T>C (n.2097+27T>C)
c.2106+27T>C (n.2106+27T>C)
c.2250+27T>C (n.2250+27T>C)
c.*1959+27T>C (n.*1959+27T>C)
c.2232+27T>C (n.2232+27T>C)
c.2292+27T>C (n.2292+27T>C)
c.2286+27T>C (n.2286+27T>C)
n.2168+27T>C
c.2214+27T>C (n.2214+27T>C)
c.2184+27T>C (n.2184+27T>C)
c.198+27T>C (n.198+27T>C)
c.2484+27T>C (n.2484+27T>C)
c.2493+27T>C (n.2493+27T>C)
c.1839+27T>C (n.1839+27T>C)
c.2283+27T>C (n.2283+27T>C)
 gnomAD v4
9g.135775443G>ACA2692518805KCNT1c.2349+28G>A (n.2349+28G>A)
c.2190+28G>A (n.2190+28G>A)
c.2097+28G>A (n.2097+28G>A)
c.2106+28G>A (n.2106+28G>A)
c.2250+28G>A (n.2250+28G>A)
c.*1959+28G>A (n.*1959+28G>A)
c.2232+28G>A (n.2232+28G>A)
c.2292+28G>A (n.2292+28G>A)
c.2286+28G>A (n.2286+28G>A)
n.2168+28G>A
c.2214+28G>A (n.2214+28G>A)
c.2184+28G>A (n.2184+28G>A)
c.198+28G>A (n.198+28G>A)
c.2484+28G>A (n.2484+28G>A)
c.2493+28G>A (n.2493+28G>A)
c.1839+28G>A (n.1839+28G>A)
c.2283+28G>A (n.2283+28G>A)
 gnomAD v4
9g.135775448_135775463dupCA2692518804KCNT1c.2349+33_2349+48dup (n.2349+33_2349+48dup)
c.2190+33_2190+48dup (n.2190+33_2190+48dup)
c.2097+33_2097+48dup (n.2097+33_2097+48dup)
c.2106+33_2106+48dup (n.2106+33_2106+48dup)
c.2250+33_2250+48dup (n.2250+33_2250+48dup)
c.*1959+33_*1959+48dup (n.*1959+33_*1959+48dup)
c.2232+33_2232+48dup (n.2232+33_2232+48dup)
c.2292+33_2292+48dup (n.2292+33_2292+48dup)
c.2286+33_2286+48dup (n.2286+33_2286+48dup)
n.2168+33_2168+48dup
c.2214+33_2214+48dup (n.2214+33_2214+48dup)
c.2184+33_2184+48dup (n.2184+33_2184+48dup)
c.198+33_198+48dup (n.198+33_198+48dup)
c.2484+33_2484+48dup (n.2484+33_2484+48dup)
c.2493+33_2493+48dup (n.2493+33_2493+48dup)
c.1839+33_1839+48dup (n.1839+33_1839+48dup)
c.2283+33_2283+48dup (n.2283+33_2283+48dup)
 gnomAD v4
9g.135775444C>ACA2579511281KCNT1c.2349+29C>A (n.2349+29C>A)
c.2190+29C>A (n.2190+29C>A)
c.2097+29C>A (n.2097+29C>A)
c.2106+29C>A (n.2106+29C>A)
c.2250+29C>A (n.2250+29C>A)
c.*1959+29C>A (n.*1959+29C>A)
c.2232+29C>A (n.2232+29C>A)
c.2292+29C>A (n.2292+29C>A)
c.2286+29C>A (n.2286+29C>A)
n.2168+29C>A
c.2214+29C>A (n.2214+29C>A)
c.2184+29C>A (n.2184+29C>A)
c.198+29C>A (n.198+29C>A)
c.2484+29C>A (n.2484+29C>A)
c.2493+29C>A (n.2493+29C>A)
c.1839+29C>A (n.1839+29C>A)
c.2283+29C>A (n.2283+29C>A)
 gnomAD v4
9g.135775444C=CA1883885077KCNT1c.2349+29C= (n.2349+29C=)
c.2190+29C= (n.2190+29C=)
c.2097+29C= (n.2097+29C=)
c.2106+29C= (n.2106+29C=)
c.2250+29C= (n.2250+29C=)
c.*1959+29C= (n.*1959+29C=)
c.2232+29C= (n.2232+29C=)
c.2292+29C= (n.2292+29C=)
c.2286+29C= (n.2286+29C=)
n.2168+29C=
c.2214+29C= (n.2214+29C=)
c.2184+29C= (n.2184+29C=)
c.198+29C= (n.198+29C=)
c.2484+29C= (n.2484+29C=)
c.2493+29C= (n.2493+29C=)
c.1839+29C= (n.1839+29C=)
c.2283+29C= (n.2283+29C=)
9g.135775444C>TCA5327272KCNT1c.2349+29C>T (n.2349+29C>T)
c.2190+29C>T (n.2190+29C>T)
c.2097+29C>T (n.2097+29C>T)
c.2106+29C>T (n.2106+29C>T)
c.2250+29C>T (n.2250+29C>T)
c.*1959+29C>T (n.*1959+29C>T)
c.2232+29C>T (n.2232+29C>T)
c.2292+29C>T (n.2292+29C>T)
c.2286+29C>T (n.2286+29C>T)
n.2168+29C>T
c.2214+29C>T (n.2214+29C>T)
c.2184+29C>T (n.2184+29C>T)
c.198+29C>T (n.198+29C>T)
c.2484+29C>T (n.2484+29C>T)
c.2493+29C>T (n.2493+29C>T)
c.1839+29C>T (n.1839+29C>T)
c.2283+29C>T (n.2283+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched