Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135775307del | CA2579511267 | KCNT1 | c.2244-3del (n.2244-3del) c.2085-3del (n.2085-3del) c.1992-3del (n.1992-3del) c.2001-3del (n.2001-3del) c.2145-3del (n.2145-3del) c.*1854-3del (n.*1854-3del) c.2127-3del (n.2127-3del) c.2187-3del (n.2187-3del) c.2181-3del (n.2181-3del) n.2063-3del c.2109-3del (n.2109-3del) c.2079-3del (n.2079-3del) c.93-3del (n.93-3del) c.2379-3del (n.2379-3del) c.2388-3del (n.2388-3del) c.1734-3del (n.1734-3del) c.2178-3del (n.2178-3del) | gnomAD v4 |
9 | g.135775306C>T | CA2786247696 | KCNT1 | c.2244-4C>T (n.2244-4C>T) c.2085-4C>T (n.2085-4C>T) c.1992-4C>T (n.1992-4C>T) c.2001-4C>T (n.2001-4C>T) c.2145-4C>T (n.2145-4C>T) c.*1854-4C>T (n.*1854-4C>T) c.2127-4C>T (n.2127-4C>T) c.2187-4C>T (n.2187-4C>T) c.2181-4C>T (n.2181-4C>T) n.2063-4C>T c.2109-4C>T (n.2109-4C>T) c.2079-4C>T (n.2079-4C>T) c.93-4C>T (n.93-4C>T) c.2379-4C>T (n.2379-4C>T) c.2388-4C>T (n.2388-4C>T) c.1734-4C>T (n.1734-4C>T) c.2178-4C>T (n.2178-4C>T) | |
9 | g.135775307C= | CA1883884670 | KCNT1 | c.2244-3C= (n.2244-3C=) c.2085-3C= (n.2085-3C=) c.1992-3C= (n.1992-3C=) c.2001-3C= (n.2001-3C=) c.2145-3C= (n.2145-3C=) c.*1854-3C= (n.*1854-3C=) c.2127-3C= (n.2127-3C=) c.2187-3C= (n.2187-3C=) c.2181-3C= (n.2181-3C=) n.2063-3C= c.2109-3C= (n.2109-3C=) c.2079-3C= (n.2079-3C=) c.93-3C= (n.93-3C=) c.2379-3C= (n.2379-3C=) c.2388-3C= (n.2388-3C=) c.1734-3C= (n.1734-3C=) c.2178-3C= (n.2178-3C=) | |
9 | g.135775307C>G | CA5327241 | KCNT1 | c.2244-3C>G (n.2244-3C>G) c.2085-3C>G (n.2085-3C>G) c.1992-3C>G (n.1992-3C>G) c.2001-3C>G (n.2001-3C>G) c.2145-3C>G (n.2145-3C>G) c.*1854-3C>G (n.*1854-3C>G) c.2127-3C>G (n.2127-3C>G) c.2187-3C>G (n.2187-3C>G) c.2181-3C>G (n.2181-3C>G) n.2063-3C>G c.2109-3C>G (n.2109-3C>G) c.2079-3C>G (n.2079-3C>G) c.93-3C>G (n.93-3C>G) c.2379-3C>G (n.2379-3C>G) c.2388-3C>G (n.2388-3C>G) c.1734-3C>G (n.1734-3C>G) c.2178-3C>G (n.2178-3C>G) | dbSNP ExAC |
9 | g.135775308A>C | CA375512086 | KCNT1 | c.2244-2A>C (n.2244-2A>C) c.2085-2A>C (n.2085-2A>C) c.1992-2A>C (n.1992-2A>C) c.2001-2A>C (n.2001-2A>C) c.2145-2A>C (n.2145-2A>C) c.*1854-2A>C (n.*1854-2A>C) c.2127-2A>C (n.2127-2A>C) c.2187-2A>C (n.2187-2A>C) c.2181-2A>C (n.2181-2A>C) n.2063-2A>C c.2109-2A>C (n.2109-2A>C) c.2079-2A>C (n.2079-2A>C) c.93-2A>C (n.93-2A>C) c.2379-2A>C (n.2379-2A>C) c.2388-2A>C (n.2388-2A>C) c.1734-2A>C (n.1734-2A>C) c.2178-2A>C (n.2178-2A>C) | |
9 | g.135775308A>G | CA375512084 | KCNT1 | c.2244-2A>G (n.2244-2A>G) c.2085-2A>G (n.2085-2A>G) c.1992-2A>G (n.1992-2A>G) c.2001-2A>G (n.2001-2A>G) c.2145-2A>G (n.2145-2A>G) c.*1854-2A>G (n.*1854-2A>G) c.2127-2A>G (n.2127-2A>G) c.2187-2A>G (n.2187-2A>G) c.2181-2A>G (n.2181-2A>G) n.2063-2A>G c.2109-2A>G (n.2109-2A>G) c.2079-2A>G (n.2079-2A>G) c.93-2A>G (n.93-2A>G) c.2379-2A>G (n.2379-2A>G) c.2388-2A>G (n.2388-2A>G) c.1734-2A>G (n.1734-2A>G) c.2178-2A>G (n.2178-2A>G) | gnomAD v4 |
9 | g.135775308A>T | CA375512085 | KCNT1 | c.2244-2A>T (n.2244-2A>T) c.2085-2A>T (n.2085-2A>T) c.1992-2A>T (n.1992-2A>T) c.2001-2A>T (n.2001-2A>T) c.2145-2A>T (n.2145-2A>T) c.*1854-2A>T (n.*1854-2A>T) c.2127-2A>T (n.2127-2A>T) c.2187-2A>T (n.2187-2A>T) c.2181-2A>T (n.2181-2A>T) n.2063-2A>T c.2109-2A>T (n.2109-2A>T) c.2079-2A>T (n.2079-2A>T) c.93-2A>T (n.93-2A>T) c.2379-2A>T (n.2379-2A>T) c.2388-2A>T (n.2388-2A>T) c.1734-2A>T (n.1734-2A>T) c.2178-2A>T (n.2178-2A>T) | |
9 | g.135775308dup | CA2579511268 | KCNT1 | c.2244-2dup (n.2244-2dup) c.2085-2dup (n.2085-2dup) c.1992-2dup (n.1992-2dup) c.2001-2dup (n.2001-2dup) c.2145-2dup (n.2145-2dup) c.*1854-2dup (n.*1854-2dup) c.2127-2dup (n.2127-2dup) c.2187-2dup (n.2187-2dup) c.2181-2dup (n.2181-2dup) n.2063-2dup c.2109-2dup (n.2109-2dup) c.2079-2dup (n.2079-2dup) c.93-2dup (n.93-2dup) c.2379-2dup (n.2379-2dup) c.2388-2dup (n.2388-2dup) c.1734-2dup (n.1734-2dup) c.2178-2dup (n.2178-2dup) | |
9 | g.135775309G>A | CA375512088 | KCNT1 | c.2244-1G>A (n.2244-1G>A) c.2085-1G>A (n.2085-1G>A) c.1992-1G>A (n.1992-1G>A) c.2001-1G>A (n.2001-1G>A) c.2145-1G>A (n.2145-1G>A) c.*1854-1G>A (n.*1854-1G>A) c.2127-1G>A (n.2127-1G>A) c.2187-1G>A (n.2187-1G>A) c.2181-1G>A (n.2181-1G>A) n.2063-1G>A c.2109-1G>A (n.2109-1G>A) c.2079-1G>A (n.2079-1G>A) c.93-1G>A (n.93-1G>A) c.2379-1G>A (n.2379-1G>A) c.2388-1G>A (n.2388-1G>A) c.1734-1G>A (n.1734-1G>A) c.2178-1G>A (n.2178-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.135775309G>C | CA375512090 | KCNT1 | c.2244-1G>C (n.2244-1G>C) c.2085-1G>C (n.2085-1G>C) c.1992-1G>C (n.1992-1G>C) c.2001-1G>C (n.2001-1G>C) c.2145-1G>C (n.2145-1G>C) c.*1854-1G>C (n.*1854-1G>C) c.2127-1G>C (n.2127-1G>C) c.2187-1G>C (n.2187-1G>C) c.2181-1G>C (n.2181-1G>C) n.2063-1G>C c.2109-1G>C (n.2109-1G>C) c.2079-1G>C (n.2079-1G>C) c.93-1G>C (n.93-1G>C) c.2379-1G>C (n.2379-1G>C) c.2388-1G>C (n.2388-1G>C) c.1734-1G>C (n.1734-1G>C) c.2178-1G>C (n.2178-1G>C) | dbSNP |
9 | g.135775309G= | CA1883884673 | KCNT1 | c.2244-1G= (n.2244-1G=) c.2085-1G= (n.2085-1G=) c.1992-1G= (n.1992-1G=) c.2001-1G= (n.2001-1G=) c.2145-1G= (n.2145-1G=) c.*1854-1G= (n.*1854-1G=) c.2127-1G= (n.2127-1G=) c.2187-1G= (n.2187-1G=) c.2181-1G= (n.2181-1G=) n.2063-1G= c.2109-1G= (n.2109-1G=) c.2079-1G= (n.2079-1G=) c.93-1G= (n.93-1G=) c.2379-1G= (n.2379-1G=) c.2388-1G= (n.2388-1G=) c.1734-1G= (n.1734-1G=) c.2178-1G= (n.2178-1G=) | |
9 | g.135775309G>T | CA375512091 | KCNT1 | c.2244-1G>T (n.2244-1G>T) c.2085-1G>T (n.2085-1G>T) c.1992-1G>T (n.1992-1G>T) c.2001-1G>T (n.2001-1G>T) c.2145-1G>T (n.2145-1G>T) c.*1854-1G>T (n.*1854-1G>T) c.2127-1G>T (n.2127-1G>T) c.2187-1G>T (n.2187-1G>T) c.2181-1G>T (n.2181-1G>T) n.2063-1G>T c.2109-1G>T (n.2109-1G>T) c.2079-1G>T (n.2079-1G>T) c.93-1G>T (n.93-1G>T) c.2379-1G>T (n.2379-1G>T) c.2388-1G>T (n.2388-1G>T) c.1734-1G>T (n.1734-1G>T) c.2178-1G>T (n.2178-1G>T) | gnomAD v4 |
9 | g.135775310G>A | CA467698696 | KCNT1 | c.2244G>A (p.Glu748=) c.2085G>A (p.Glu695=) c.1992G>A (p.Glu664=) c.2001G>A (p.Glu667=) c.2145G>A (p.Glu715=) c.*1854G>A (n.*1854G>A) c.2127G>A (p.Glu709=) c.2187G>A (p.Glu729=) c.2181G>A (p.Glu727=) n.2063G>A c.2109G>A (p.Glu703=) c.2079G>A (p.Glu693=) c.93G>A (p.Glu31=) c.2379G>A (p.Glu793=) c.2388G>A (p.Glu796=) c.1734G>A (p.Glu578=) c.2178G>A (p.Glu726=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135775310G>C | CA375512093 | KCNT1 | c.2244G>C (p.Glu748Asp) c.2085G>C (p.Glu695Asp) c.1992G>C (p.Glu664Asp) c.2001G>C (p.Glu667Asp) c.2145G>C (p.Glu715Asp) c.*1854G>C (n.*1854G>C) c.2127G>C (p.Glu709Asp) c.2187G>C (p.Glu729Asp) c.2181G>C (p.Glu727Asp) n.2063G>C c.2109G>C (p.Glu703Asp) c.2079G>C (p.Glu693Asp) c.93G>C (p.Glu31Asp) c.2379G>C (p.Glu793Asp) c.2388G>C (p.Glu796Asp) c.1734G>C (p.Glu578Asp) c.2178G>C (p.Glu726Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135775310G= | CA1883884683 | KCNT1 | c.2244G= (p.Glu748=) c.2085G= (p.Glu695=) c.1992G= (p.Glu664=) c.2001G= (p.Glu667=) c.2145G= (p.Glu715=) c.*1854G= (n.*1854G=) c.2127G= (p.Glu709=) c.2187G= (p.Glu729=) c.2181G= (p.Glu727=) n.2063G= c.2109G= (p.Glu703=) c.2079G= (p.Glu693=) c.93G= (p.Glu31=) c.2379G= (p.Glu793=) c.2388G= (p.Glu796=) c.1734G= (p.Glu578=) c.2178G= (p.Glu726=) | |
9 | g.135775310G>T | CA375512094 | KCNT1 | c.2244G>T (p.Glu748Asp) c.2085G>T (p.Glu695Asp) c.1992G>T (p.Glu664Asp) c.2001G>T (p.Glu667Asp) c.2145G>T (p.Glu715Asp) c.*1854G>T (n.*1854G>T) c.2127G>T (p.Glu709Asp) c.2187G>T (p.Glu729Asp) c.2181G>T (p.Glu727Asp) n.2063G>T c.2109G>T (p.Glu703Asp) c.2079G>T (p.Glu693Asp) c.93G>T (p.Glu31Asp) c.2379G>T (p.Glu793Asp) c.2388G>T (p.Glu796Asp) c.1734G>T (p.Glu578Asp) c.2178G>T (p.Glu726Asp) | |
9 | g.135775311T>A | CA375512096 | KCNT1 | c.2245T>A (p.Tyr749Asn) c.2086T>A (p.Tyr696Asn) c.1993T>A (p.Tyr665Asn) c.2002T>A (p.Tyr668Asn) c.2146T>A (p.Tyr716Asn) c.*1855T>A (n.*1855T>A) c.2128T>A (p.Tyr710Asn) c.2188T>A (p.Tyr730Asn) c.2182T>A (p.Tyr728Asn) n.2064T>A c.2110T>A (p.Tyr704Asn) c.2080T>A (p.Tyr694Asn) c.94T>A (p.Tyr32Asn) c.2380T>A (p.Tyr794Asn) c.2389T>A (p.Tyr797Asn) c.1735T>A (p.Tyr579Asn) c.2179T>A (p.Tyr727Asn) | |
9 | g.135775311T>C | CA375512099 | KCNT1 | c.2245T>C (p.Tyr749His) c.2086T>C (p.Tyr696His) c.1993T>C (p.Tyr665His) c.2002T>C (p.Tyr668His) c.2146T>C (p.Tyr716His) c.*1855T>C (n.*1855T>C) c.2128T>C (p.Tyr710His) c.2188T>C (p.Tyr730His) c.2182T>C (p.Tyr728His) n.2064T>C c.2110T>C (p.Tyr704His) c.2080T>C (p.Tyr694His) c.94T>C (p.Tyr32His) c.2380T>C (p.Tyr794His) c.2389T>C (p.Tyr797His) c.1735T>C (p.Tyr579His) c.2179T>C (p.Tyr727His) | |
9 | g.135775311T>G | CA375512098 | KCNT1 | c.2245T>G (p.Tyr749Asp) c.2086T>G (p.Tyr696Asp) c.1993T>G (p.Tyr665Asp) c.2002T>G (p.Tyr668Asp) c.2146T>G (p.Tyr716Asp) c.*1855T>G (n.*1855T>G) c.2128T>G (p.Tyr710Asp) c.2188T>G (p.Tyr730Asp) c.2182T>G (p.Tyr728Asp) n.2064T>G c.2110T>G (p.Tyr704Asp) c.2080T>G (p.Tyr694Asp) c.94T>G (p.Tyr32Asp) c.2380T>G (p.Tyr794Asp) c.2389T>G (p.Tyr797Asp) c.1735T>G (p.Tyr579Asp) c.2179T>G (p.Tyr727Asp) | |
9 | g.135775312A>C | CA375512101 | KCNT1 | c.2246A>C (p.Tyr749Ser) c.2087A>C (p.Tyr696Ser) c.1994A>C (p.Tyr665Ser) c.2003A>C (p.Tyr668Ser) c.2147A>C (p.Tyr716Ser) c.*1856A>C (n.*1856A>C) c.2129A>C (p.Tyr710Ser) c.2189A>C (p.Tyr730Ser) c.2183A>C (p.Tyr728Ser) n.2065A>C c.2111A>C (p.Tyr704Ser) c.2081A>C (p.Tyr694Ser) c.95A>C (p.Tyr32Ser) c.2381A>C (p.Tyr794Ser) c.2390A>C (p.Tyr797Ser) c.1736A>C (p.Tyr579Ser) c.2180A>C (p.Tyr727Ser) | |
9 | g.135775312A>G | CA375512102 | KCNT1 | c.2246A>G (p.Tyr749Cys) c.2087A>G (p.Tyr696Cys) c.1994A>G (p.Tyr665Cys) c.2003A>G (p.Tyr668Cys) c.2147A>G (p.Tyr716Cys) c.*1856A>G (n.*1856A>G) c.2129A>G (p.Tyr710Cys) c.2189A>G (p.Tyr730Cys) c.2183A>G (p.Tyr728Cys) n.2065A>G c.2111A>G (p.Tyr704Cys) c.2081A>G (p.Tyr694Cys) c.95A>G (p.Tyr32Cys) c.2381A>G (p.Tyr794Cys) c.2390A>G (p.Tyr797Cys) c.1736A>G (p.Tyr579Cys) c.2180A>G (p.Tyr727Cys) | ClinVar gnomAD v4 |
9 | g.135775312A>T | CA375512104 | KCNT1 | c.2246A>T (p.Tyr749Phe) c.2087A>T (p.Tyr696Phe) c.1994A>T (p.Tyr665Phe) c.2003A>T (p.Tyr668Phe) c.2147A>T (p.Tyr716Phe) c.*1856A>T (n.*1856A>T) c.2129A>T (p.Tyr710Phe) c.2189A>T (p.Tyr730Phe) c.2183A>T (p.Tyr728Phe) n.2065A>T c.2111A>T (p.Tyr704Phe) c.2081A>T (p.Tyr694Phe) c.95A>T (p.Tyr32Phe) c.2381A>T (p.Tyr794Phe) c.2390A>T (p.Tyr797Phe) c.1736A>T (p.Tyr579Phe) c.2180A>T (p.Tyr727Phe) | |
9 | g.135775313T>A | CA375512106 | KCNT1 | c.2247T>A (p.Tyr749Ter) c.2088T>A (p.Tyr696Ter) c.1995T>A (p.Tyr665Ter) c.2004T>A (p.Tyr668Ter) c.2148T>A (p.Tyr716Ter) c.*1857T>A (n.*1857T>A) c.2130T>A (p.Tyr710Ter) c.2190T>A (p.Tyr730Ter) c.2184T>A (p.Tyr728Ter) n.2066T>A c.2112T>A (p.Tyr704Ter) c.2082T>A (p.Tyr694Ter) c.96T>A (p.Tyr32Ter) c.2382T>A (p.Tyr794Ter) c.2391T>A (p.Tyr797Ter) c.1737T>A (p.Tyr579Ter) c.2181T>A (p.Tyr727Ter) | |
9 | g.135775313T>C | CA467698701 | KCNT1 | c.2247T>C (p.Tyr749=) c.2088T>C (p.Tyr696=) c.1995T>C (p.Tyr665=) c.2004T>C (p.Tyr668=) c.2148T>C (p.Tyr716=) c.*1857T>C (n.*1857T>C) c.2130T>C (p.Tyr710=) c.2190T>C (p.Tyr730=) c.2184T>C (p.Tyr728=) n.2066T>C c.2112T>C (p.Tyr704=) c.2082T>C (p.Tyr694=) c.96T>C (p.Tyr32=) c.2382T>C (p.Tyr794=) c.2391T>C (p.Tyr797=) c.1737T>C (p.Tyr579=) c.2181T>C (p.Tyr727=) | gnomAD v4 |
9 | g.135775313T>G | CA375512107 | KCNT1 | c.2247T>G (p.Tyr749Ter) c.2088T>G (p.Tyr696Ter) c.1995T>G (p.Tyr665Ter) c.2004T>G (p.Tyr668Ter) c.2148T>G (p.Tyr716Ter) c.*1857T>G (n.*1857T>G) c.2130T>G (p.Tyr710Ter) c.2190T>G (p.Tyr730Ter) c.2184T>G (p.Tyr728Ter) n.2066T>G c.2112T>G (p.Tyr704Ter) c.2082T>G (p.Tyr694Ter) c.96T>G (p.Tyr32Ter) c.2382T>G (p.Tyr794Ter) c.2391T>G (p.Tyr797Ter) c.1737T>G (p.Tyr579Ter) c.2181T>G (p.Tyr727Ter) | |
9 | g.135775314G>A | CA375512108 | KCNT1 | c.2248G>A (p.Val750Met) c.2089G>A (p.Val697Met) c.1996G>A (p.Val666Met) c.2005G>A (p.Val669Met) c.2149G>A (p.Val717Met) c.*1858G>A (n.*1858G>A) c.2131G>A (p.Val711Met) c.2191G>A (p.Val731Met) c.2185G>A (p.Val729Met) n.2067G>A c.2113G>A (p.Val705Met) c.2083G>A (p.Val695Met) c.97G>A (p.Val33Met) c.2383G>A (p.Val795Met) c.2392G>A (p.Val798Met) c.1738G>A (p.Val580Met) c.2182G>A (p.Val728Met) | ClinVar dbSNP |
9 | g.135775314G>C | CA375512109 | KCNT1 | c.2248G>C (p.Val750Leu) c.2089G>C (p.Val697Leu) c.1996G>C (p.Val666Leu) c.2005G>C (p.Val669Leu) c.2149G>C (p.Val717Leu) c.*1858G>C (n.*1858G>C) c.2131G>C (p.Val711Leu) c.2191G>C (p.Val731Leu) c.2185G>C (p.Val729Leu) n.2067G>C c.2113G>C (p.Val705Leu) c.2083G>C (p.Val695Leu) c.97G>C (p.Val33Leu) c.2383G>C (p.Val795Leu) c.2392G>C (p.Val798Leu) c.1738G>C (p.Val580Leu) c.2182G>C (p.Val728Leu) | |
9 | g.135775314G>T | CA375512110 | KCNT1 | c.2248G>T (p.Val750Leu) c.2089G>T (p.Val697Leu) c.1996G>T (p.Val666Leu) c.2005G>T (p.Val669Leu) c.2149G>T (p.Val717Leu) c.*1858G>T (n.*1858G>T) c.2131G>T (p.Val711Leu) c.2191G>T (p.Val731Leu) c.2185G>T (p.Val729Leu) n.2067G>T c.2113G>T (p.Val705Leu) c.2083G>T (p.Val695Leu) c.97G>T (p.Val33Leu) c.2383G>T (p.Val795Leu) c.2392G>T (p.Val798Leu) c.1738G>T (p.Val580Leu) c.2182G>T (p.Val728Leu) | |
9 | g.135775315T>A | CA375512111 | KCNT1 | c.2249T>A (p.Val750Glu) c.2090T>A (p.Val697Glu) c.1997T>A (p.Val666Glu) c.2006T>A (p.Val669Glu) c.2150T>A (p.Val717Glu) c.*1859T>A (n.*1859T>A) c.2132T>A (p.Val711Glu) c.2192T>A (p.Val731Glu) c.2186T>A (p.Val729Glu) n.2068T>A c.2114T>A (p.Val705Glu) c.2084T>A (p.Val695Glu) c.98T>A (p.Val33Glu) c.2384T>A (p.Val795Glu) c.2393T>A (p.Val798Glu) c.1739T>A (p.Val580Glu) c.2183T>A (p.Val728Glu) | |
9 | g.135775315T>C | CA375512113 | KCNT1 | c.2249T>C (p.Val750Ala) c.2090T>C (p.Val697Ala) c.1997T>C (p.Val666Ala) c.2006T>C (p.Val669Ala) c.2150T>C (p.Val717Ala) c.*1859T>C (n.*1859T>C) c.2132T>C (p.Val711Ala) c.2192T>C (p.Val731Ala) c.2186T>C (p.Val729Ala) n.2068T>C c.2114T>C (p.Val705Ala) c.2084T>C (p.Val695Ala) c.98T>C (p.Val33Ala) c.2384T>C (p.Val795Ala) c.2393T>C (p.Val798Ala) c.1739T>C (p.Val580Ala) c.2183T>C (p.Val728Ala) | |
9 | g.135775315T>G | CA375512115 | KCNT1 | c.2249T>G (p.Val750Gly) c.2090T>G (p.Val697Gly) c.1997T>G (p.Val666Gly) c.2006T>G (p.Val669Gly) c.2150T>G (p.Val717Gly) c.*1859T>G (n.*1859T>G) c.2132T>G (p.Val711Gly) c.2192T>G (p.Val731Gly) c.2186T>G (p.Val729Gly) n.2068T>G c.2114T>G (p.Val705Gly) c.2084T>G (p.Val695Gly) c.98T>G (p.Val33Gly) c.2384T>G (p.Val795Gly) c.2393T>G (p.Val798Gly) c.1739T>G (p.Val580Gly) c.2183T>G (p.Val728Gly) | |
9 | g.135775316G>A | CA467698707 | KCNT1 | c.2250G>A (p.Val750=) c.2091G>A (p.Val697=) c.1998G>A (p.Val666=) c.2007G>A (p.Val669=) c.2151G>A (p.Val717=) c.*1860G>A (n.*1860G>A) c.2133G>A (p.Val711=) c.2193G>A (p.Val731=) c.2187G>A (p.Val729=) n.2069G>A c.2115G>A (p.Val705=) c.2085G>A (p.Val695=) c.99G>A (p.Val33=) c.2385G>A (p.Val795=) c.2394G>A (p.Val798=) c.1740G>A (p.Val580=) c.2184G>A (p.Val728=) | |
9 | g.135775316G>C | CA467698706 | KCNT1 | c.2250G>C (p.Val750=) c.2091G>C (p.Val697=) c.1998G>C (p.Val666=) c.2007G>C (p.Val669=) c.2151G>C (p.Val717=) c.*1860G>C (n.*1860G>C) c.2133G>C (p.Val711=) c.2193G>C (p.Val731=) c.2187G>C (p.Val729=) n.2069G>C c.2115G>C (p.Val705=) c.2085G>C (p.Val695=) c.99G>C (p.Val33=) c.2385G>C (p.Val795=) c.2394G>C (p.Val798=) c.1740G>C (p.Val580=) c.2184G>C (p.Val728=) | |
9 | g.135775316G>T | CA467698705 | KCNT1 | c.2250G>T (p.Val750=) c.2091G>T (p.Val697=) c.1998G>T (p.Val666=) c.2007G>T (p.Val669=) c.2151G>T (p.Val717=) c.*1860G>T (n.*1860G>T) c.2133G>T (p.Val711=) c.2193G>T (p.Val731=) c.2187G>T (p.Val729=) n.2069G>T c.2115G>T (p.Val705=) c.2085G>T (p.Val695=) c.99G>T (p.Val33=) c.2385G>T (p.Val795=) c.2394G>T (p.Val798=) c.1740G>T (p.Val580=) c.2184G>T (p.Val728=) | |
9 | g.135775317A>C | CA375512120 | KCNT1 | c.2251A>C (p.Lys751Gln) c.2092A>C (p.Lys698Gln) c.1999A>C (p.Lys667Gln) c.2008A>C (p.Lys670Gln) c.2152A>C (p.Lys718Gln) c.*1861A>C (n.*1861A>C) c.2134A>C (p.Lys712Gln) c.2194A>C (p.Lys732Gln) c.2188A>C (p.Lys730Gln) n.2070A>C c.2116A>C (p.Lys706Gln) c.2086A>C (p.Lys696Gln) c.100A>C (p.Lys34Gln) c.2386A>C (p.Lys796Gln) c.2395A>C (p.Lys799Gln) c.1741A>C (p.Lys581Gln) c.2185A>C (p.Lys729Gln) | |
9 | g.135775317A>G | CA375512118 | KCNT1 | c.2251A>G (p.Lys751Glu) c.2092A>G (p.Lys698Glu) c.1999A>G (p.Lys667Glu) c.2008A>G (p.Lys670Glu) c.2152A>G (p.Lys718Glu) c.*1861A>G (n.*1861A>G) c.2134A>G (p.Lys712Glu) c.2194A>G (p.Lys732Glu) c.2188A>G (p.Lys730Glu) n.2070A>G c.2116A>G (p.Lys706Glu) c.2086A>G (p.Lys696Glu) c.100A>G (p.Lys34Glu) c.2386A>G (p.Lys796Glu) c.2395A>G (p.Lys799Glu) c.1741A>G (p.Lys581Glu) c.2185A>G (p.Lys729Glu) | |
9 | g.135775317A>T | CA375512116 | KCNT1 | c.2251A>T (p.Lys751Ter) c.2092A>T (p.Lys698Ter) c.1999A>T (p.Lys667Ter) c.2008A>T (p.Lys670Ter) c.2152A>T (p.Lys718Ter) c.*1861A>T (n.*1861A>T) c.2134A>T (p.Lys712Ter) c.2194A>T (p.Lys732Ter) c.2188A>T (p.Lys730Ter) n.2070A>T c.2116A>T (p.Lys706Ter) c.2086A>T (p.Lys696Ter) c.100A>T (p.Lys34Ter) c.2386A>T (p.Lys796Ter) c.2395A>T (p.Lys799Ter) c.1741A>T (p.Lys581Ter) c.2185A>T (p.Lys729Ter) | |
9 | g.135775317_135775318del | CA2786247698 | KCNT1 | c.2251_2252del (p.Lys751GlyfsTer?) c.2092_2093del (p.Lys698GlyfsTer?) c.1999_2000del (p.Lys667GlyfsTer?) c.2008_2009del (p.Lys670GlyfsTer?) c.2152_2153del (p.Lys718GlyfsTer?) c.*1861_*1862del (n.*1861_*1862del) c.2134_2135del (p.Lys712GlyfsTer?) c.2194_2195del (p.Lys732GlyfsTer?) c.2188_2189del (p.Lys730GlyfsTer?) n.2070_2071del c.2116_2117del (p.Lys706GlyfsTer?) c.2086_2087del (p.Lys696GlyfsTer?) c.100_101del (p.Lys34GlyfsTer?) c.2386_2387del (p.Lys796GlyfsTer?) c.2395_2396del (p.Lys799GlyfsTer?) c.1741_1742del (p.Lys581GlyfsTer?) c.2185_2186del (p.Lys729GlyfsTer?) | |
9 | g.135775318A>C | CA375512121 | KCNT1 | c.2252A>C (p.Lys751Thr) c.2093A>C (p.Lys698Thr) c.2000A>C (p.Lys667Thr) c.2009A>C (p.Lys670Thr) c.2153A>C (p.Lys718Thr) c.*1862A>C (n.*1862A>C) c.2135A>C (p.Lys712Thr) c.2195A>C (p.Lys732Thr) c.2189A>C (p.Lys730Thr) n.2071A>C c.2117A>C (p.Lys706Thr) c.2087A>C (p.Lys696Thr) c.101A>C (p.Lys34Thr) c.2387A>C (p.Lys796Thr) c.2396A>C (p.Lys799Thr) c.1742A>C (p.Lys581Thr) c.2186A>C (p.Lys729Thr) | |
9 | g.135775318A>G | CA375512127 | KCNT1 | c.2252A>G (p.Lys751Arg) c.2093A>G (p.Lys698Arg) c.2000A>G (p.Lys667Arg) c.2009A>G (p.Lys670Arg) c.2153A>G (p.Lys718Arg) c.*1862A>G (n.*1862A>G) c.2135A>G (p.Lys712Arg) c.2195A>G (p.Lys732Arg) c.2189A>G (p.Lys730Arg) n.2071A>G c.2117A>G (p.Lys706Arg) c.2087A>G (p.Lys696Arg) c.101A>G (p.Lys34Arg) c.2387A>G (p.Lys796Arg) c.2396A>G (p.Lys799Arg) c.1742A>G (p.Lys581Arg) c.2186A>G (p.Lys729Arg) | gnomAD v4 |
9 | g.135775318A>T | CA375512125 | KCNT1 | c.2252A>T (p.Lys751Met) c.2093A>T (p.Lys698Met) c.2000A>T (p.Lys667Met) c.2009A>T (p.Lys670Met) c.2153A>T (p.Lys718Met) c.*1862A>T (n.*1862A>T) c.2135A>T (p.Lys712Met) c.2195A>T (p.Lys732Met) c.2189A>T (p.Lys730Met) n.2071A>T c.2117A>T (p.Lys706Met) c.2087A>T (p.Lys696Met) c.101A>T (p.Lys34Met) c.2387A>T (p.Lys796Met) c.2396A>T (p.Lys799Met) c.1742A>T (p.Lys581Met) c.2186A>T (p.Lys729Met) | |
9 | g.135775319G>A | CA467698712 | KCNT1 | c.2253G>A (p.Lys751=) c.2094G>A (p.Lys698=) c.2001G>A (p.Lys667=) c.2010G>A (p.Lys670=) c.2154G>A (p.Lys718=) c.*1863G>A (n.*1863G>A) c.2136G>A (p.Lys712=) c.2196G>A (p.Lys732=) c.2190G>A (p.Lys730=) n.2072G>A c.2118G>A (p.Lys706=) c.2088G>A (p.Lys696=) c.102G>A (p.Lys34=) c.2388G>A (p.Lys796=) c.2397G>A (p.Lys799=) c.1743G>A (p.Lys581=) c.2187G>A (p.Lys729=) | |
9 | g.135775319G>C | CA5327242 | KCNT1 | c.2253G>C (p.Lys751Asn) c.2094G>C (p.Lys698Asn) c.2001G>C (p.Lys667Asn) c.2010G>C (p.Lys670Asn) c.2154G>C (p.Lys718Asn) c.*1863G>C (n.*1863G>C) c.2136G>C (p.Lys712Asn) c.2196G>C (p.Lys732Asn) c.2190G>C (p.Lys730Asn) n.2072G>C c.2118G>C (p.Lys706Asn) c.2088G>C (p.Lys696Asn) c.102G>C (p.Lys34Asn) c.2388G>C (p.Lys796Asn) c.2397G>C (p.Lys799Asn) c.1743G>C (p.Lys581Asn) c.2187G>C (p.Lys729Asn) | dbSNP ExAC gnomAD v2 |
9 | g.135775319G= | CA1883884691 | KCNT1 | c.2253G= (p.Lys751=) c.2094G= (p.Lys698=) c.2001G= (p.Lys667=) c.2010G= (p.Lys670=) c.2154G= (p.Lys718=) c.*1863G= (n.*1863G=) c.2136G= (p.Lys712=) c.2196G= (p.Lys732=) c.2190G= (p.Lys730=) n.2072G= c.2118G= (p.Lys706=) c.2088G= (p.Lys696=) c.102G= (p.Lys34=) c.2388G= (p.Lys796=) c.2397G= (p.Lys799=) c.1743G= (p.Lys581=) c.2187G= (p.Lys729=) | |
9 | g.135775319G>T | CA375512130 | KCNT1 | c.2253G>T (p.Lys751Asn) c.2094G>T (p.Lys698Asn) c.2001G>T (p.Lys667Asn) c.2010G>T (p.Lys670Asn) c.2154G>T (p.Lys718Asn) c.*1863G>T (n.*1863G>T) c.2136G>T (p.Lys712Asn) c.2196G>T (p.Lys732Asn) c.2190G>T (p.Lys730Asn) n.2072G>T c.2118G>T (p.Lys706Asn) c.2088G>T (p.Lys696Asn) c.102G>T (p.Lys34Asn) c.2388G>T (p.Lys796Asn) c.2397G>T (p.Lys799Asn) c.1743G>T (p.Lys581Asn) c.2187G>T (p.Lys729Asn) | |
9 | g.135775320G>A | CA375512132 | KCNT1 | c.2254G>A (p.Gly752Ser) c.2095G>A (p.Gly699Ser) c.2002G>A (p.Gly668Ser) c.2011G>A (p.Gly671Ser) c.2155G>A (p.Gly719Ser) c.*1864G>A (n.*1864G>A) c.2137G>A (p.Gly713Ser) c.2197G>A (p.Gly733Ser) c.2191G>A (p.Gly731Ser) n.2073G>A c.2119G>A (p.Gly707Ser) c.2089G>A (p.Gly697Ser) c.103G>A (p.Gly35Ser) c.2389G>A (p.Gly797Ser) c.2398G>A (p.Gly800Ser) c.1744G>A (p.Gly582Ser) c.2188G>A (p.Gly730Ser) | |
9 | g.135775320G>C | CA375512135 | KCNT1 | c.2254G>C (p.Gly752Arg) c.2095G>C (p.Gly699Arg) c.2002G>C (p.Gly668Arg) c.2011G>C (p.Gly671Arg) c.2155G>C (p.Gly719Arg) c.*1864G>C (n.*1864G>C) c.2137G>C (p.Gly713Arg) c.2197G>C (p.Gly733Arg) c.2191G>C (p.Gly731Arg) n.2073G>C c.2119G>C (p.Gly707Arg) c.2089G>C (p.Gly697Arg) c.103G>C (p.Gly35Arg) c.2389G>C (p.Gly797Arg) c.2398G>C (p.Gly800Arg) c.1744G>C (p.Gly582Arg) c.2188G>C (p.Gly730Arg) | |
9 | g.135775320G>T | CA375512133 | KCNT1 | c.2254G>T (p.Gly752Cys) c.2095G>T (p.Gly699Cys) c.2002G>T (p.Gly668Cys) c.2011G>T (p.Gly671Cys) c.2155G>T (p.Gly719Cys) c.*1864G>T (n.*1864G>T) c.2137G>T (p.Gly713Cys) c.2197G>T (p.Gly733Cys) c.2191G>T (p.Gly731Cys) n.2073G>T c.2119G>T (p.Gly707Cys) c.2089G>T (p.Gly697Cys) c.103G>T (p.Gly35Cys) c.2389G>T (p.Gly797Cys) c.2398G>T (p.Gly800Cys) c.1744G>T (p.Gly582Cys) c.2188G>T (p.Gly730Cys) | |
9 | g.135775321G>A | CA375512137 | KCNT1 | c.2255G>A (p.Gly752Asp) c.2096G>A (p.Gly699Asp) c.2003G>A (p.Gly668Asp) c.2012G>A (p.Gly671Asp) c.2156G>A (p.Gly719Asp) c.*1865G>A (n.*1865G>A) c.2138G>A (p.Gly713Asp) c.2198G>A (p.Gly733Asp) c.2192G>A (p.Gly731Asp) n.2074G>A c.2120G>A (p.Gly707Asp) c.2090G>A (p.Gly697Asp) c.104G>A (p.Gly35Asp) c.2390G>A (p.Gly797Asp) c.2399G>A (p.Gly800Asp) c.1745G>A (p.Gly582Asp) c.2189G>A (p.Gly730Asp) | |
9 | g.135775321G>C | CA375512142 | KCNT1 | c.2255G>C (p.Gly752Ala) c.2096G>C (p.Gly699Ala) c.2003G>C (p.Gly668Ala) c.2012G>C (p.Gly671Ala) c.2156G>C (p.Gly719Ala) c.*1865G>C (n.*1865G>C) c.2138G>C (p.Gly713Ala) c.2198G>C (p.Gly733Ala) c.2192G>C (p.Gly731Ala) n.2074G>C c.2120G>C (p.Gly707Ala) c.2090G>C (p.Gly697Ala) c.104G>C (p.Gly35Ala) c.2390G>C (p.Gly797Ala) c.2399G>C (p.Gly800Ala) c.1745G>C (p.Gly582Ala) c.2189G>C (p.Gly730Ala) | |
9 | g.135775321G>T | CA375512140 | KCNT1 | c.2255G>T (p.Gly752Val) c.2096G>T (p.Gly699Val) c.2003G>T (p.Gly668Val) c.2012G>T (p.Gly671Val) c.2156G>T (p.Gly719Val) c.*1865G>T (n.*1865G>T) c.2138G>T (p.Gly713Val) c.2198G>T (p.Gly733Val) c.2192G>T (p.Gly731Val) n.2074G>T c.2120G>T (p.Gly707Val) c.2090G>T (p.Gly697Val) c.104G>T (p.Gly35Val) c.2390G>T (p.Gly797Val) c.2399G>T (p.Gly800Val) c.1745G>T (p.Gly582Val) c.2189G>T (p.Gly730Val) | gnomAD v4 |
9 | g.135775322C>A | CA467698716 | KCNT1 | c.2256C>A (p.Gly752=) c.2097C>A (p.Gly699=) c.2004C>A (p.Gly668=) c.2013C>A (p.Gly671=) c.2157C>A (p.Gly719=) c.*1866C>A (n.*1866C>A) c.2139C>A (p.Gly713=) c.2199C>A (p.Gly733=) c.2193C>A (p.Gly731=) n.2075C>A c.2121C>A (p.Gly707=) c.2091C>A (p.Gly697=) c.105C>A (p.Gly35=) c.2391C>A (p.Gly797=) c.2400C>A (p.Gly800=) c.1746C>A (p.Gly582=) c.2190C>A (p.Gly730=) | |
9 | g.135775322C= | CA1883884697 | KCNT1 | c.2256C= (p.Gly752=) c.2097C= (p.Gly699=) c.2004C= (p.Gly668=) c.2013C= (p.Gly671=) c.2157C= (p.Gly719=) c.*1866C= (n.*1866C=) c.2139C= (p.Gly713=) c.2199C= (p.Gly733=) c.2193C= (p.Gly731=) n.2075C= c.2121C= (p.Gly707=) c.2091C= (p.Gly697=) c.105C= (p.Gly35=) c.2391C= (p.Gly797=) c.2400C= (p.Gly800=) c.1746C= (p.Gly582=) c.2190C= (p.Gly730=) | |
9 | g.135775322C>G | CA467698717 | KCNT1 | c.2256C>G (p.Gly752=) c.2097C>G (p.Gly699=) c.2004C>G (p.Gly668=) c.2013C>G (p.Gly671=) c.2157C>G (p.Gly719=) c.*1866C>G (n.*1866C>G) c.2139C>G (p.Gly713=) c.2199C>G (p.Gly733=) c.2193C>G (p.Gly731=) n.2075C>G c.2121C>G (p.Gly707=) c.2091C>G (p.Gly697=) c.105C>G (p.Gly35=) c.2391C>G (p.Gly797=) c.2400C>G (p.Gly800=) c.1746C>G (p.Gly582=) c.2190C>G (p.Gly730=) | |
9 | g.135775322C>T | CA201476117 | KCNT1 | c.2256C>T (p.Gly752=) c.2097C>T (p.Gly699=) c.2004C>T (p.Gly668=) c.2013C>T (p.Gly671=) c.2157C>T (p.Gly719=) c.*1866C>T (n.*1866C>T) c.2139C>T (p.Gly713=) c.2199C>T (p.Gly733=) c.2193C>T (p.Gly731=) n.2075C>T c.2121C>T (p.Gly707=) c.2091C>T (p.Gly697=) c.105C>T (p.Gly35=) c.2391C>T (p.Gly797=) c.2400C>T (p.Gly800=) c.1746C>T (p.Gly582=) c.2190C>T (p.Gly730=) | dbSNP |
9 | g.135775323T>A | CA375512144 | KCNT1 | c.2257T>A (p.Tyr753Asn) c.2098T>A (p.Tyr700Asn) c.2005T>A (p.Tyr669Asn) c.2014T>A (p.Tyr672Asn) c.2158T>A (p.Tyr720Asn) c.*1867T>A (n.*1867T>A) c.2140T>A (p.Tyr714Asn) c.2200T>A (p.Tyr734Asn) c.2194T>A (p.Tyr732Asn) n.2076T>A c.2122T>A (p.Tyr708Asn) c.2092T>A (p.Tyr698Asn) c.106T>A (p.Tyr36Asn) c.2392T>A (p.Tyr798Asn) c.2401T>A (p.Tyr801Asn) c.1747T>A (p.Tyr583Asn) c.2191T>A (p.Tyr731Asn) | |
9 | g.135775323T>C | CA375512147 | KCNT1 | c.2257T>C (p.Tyr753His) c.2098T>C (p.Tyr700His) c.2005T>C (p.Tyr669His) c.2014T>C (p.Tyr672His) c.2158T>C (p.Tyr720His) c.*1867T>C (n.*1867T>C) c.2140T>C (p.Tyr714His) c.2200T>C (p.Tyr734His) c.2194T>C (p.Tyr732His) n.2076T>C c.2122T>C (p.Tyr708His) c.2092T>C (p.Tyr698His) c.106T>C (p.Tyr36His) c.2392T>C (p.Tyr798His) c.2401T>C (p.Tyr801His) c.1747T>C (p.Tyr583His) c.2191T>C (p.Tyr731His) | gnomAD v3 gnomAD v4 |
9 | g.135775323T>G | CA375512145 | KCNT1 | c.2257T>G (p.Tyr753Asp) c.2098T>G (p.Tyr700Asp) c.2005T>G (p.Tyr669Asp) c.2014T>G (p.Tyr672Asp) c.2158T>G (p.Tyr720Asp) c.*1867T>G (n.*1867T>G) c.2140T>G (p.Tyr714Asp) c.2200T>G (p.Tyr734Asp) c.2194T>G (p.Tyr732Asp) n.2076T>G c.2122T>G (p.Tyr708Asp) c.2092T>G (p.Tyr698Asp) c.106T>G (p.Tyr36Asp) c.2392T>G (p.Tyr798Asp) c.2401T>G (p.Tyr801Asp) c.1747T>G (p.Tyr583Asp) c.2191T>G (p.Tyr731Asp) | |
9 | g.135775324A= | CA1883884702 | KCNT1 | c.2258A= (p.Tyr753=) c.2099A= (p.Tyr700=) c.2006A= (p.Tyr669=) c.2015A= (p.Tyr672=) c.2159A= (p.Tyr720=) c.*1868A= (n.*1868A=) c.2141A= (p.Tyr714=) c.2201A= (p.Tyr734=) c.2195A= (p.Tyr732=) n.2077A= c.2123A= (p.Tyr708=) c.2093A= (p.Tyr698=) c.107A= (p.Tyr36=) c.2393A= (p.Tyr798=) c.2402A= (p.Tyr801=) c.1748A= (p.Tyr583=) c.2192A= (p.Tyr731=) | |
9 | g.135775324A>C | CA375512149 | KCNT1 | c.2258A>C (p.Tyr753Ser) c.2099A>C (p.Tyr700Ser) c.2006A>C (p.Tyr669Ser) c.2015A>C (p.Tyr672Ser) c.2159A>C (p.Tyr720Ser) c.*1868A>C (n.*1868A>C) c.2141A>C (p.Tyr714Ser) c.2201A>C (p.Tyr734Ser) c.2195A>C (p.Tyr732Ser) n.2077A>C c.2123A>C (p.Tyr708Ser) c.2093A>C (p.Tyr698Ser) c.107A>C (p.Tyr36Ser) c.2393A>C (p.Tyr798Ser) c.2402A>C (p.Tyr801Ser) c.1748A>C (p.Tyr583Ser) c.2192A>C (p.Tyr731Ser) | dbSNP |
9 | g.135775324A>G | CA5327243 | KCNT1 | c.2258A>G (p.Tyr753Cys) c.2099A>G (p.Tyr700Cys) c.2006A>G (p.Tyr669Cys) c.2015A>G (p.Tyr672Cys) c.2159A>G (p.Tyr720Cys) c.*1868A>G (n.*1868A>G) c.2141A>G (p.Tyr714Cys) c.2201A>G (p.Tyr734Cys) c.2195A>G (p.Tyr732Cys) n.2077A>G c.2123A>G (p.Tyr708Cys) c.2093A>G (p.Tyr698Cys) c.107A>G (p.Tyr36Cys) c.2393A>G (p.Tyr798Cys) c.2402A>G (p.Tyr801Cys) c.1748A>G (p.Tyr583Cys) c.2192A>G (p.Tyr731Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135775324A>T | CA375512150 | KCNT1 | c.2258A>T (p.Tyr753Phe) c.2099A>T (p.Tyr700Phe) c.2006A>T (p.Tyr669Phe) c.2015A>T (p.Tyr672Phe) c.2159A>T (p.Tyr720Phe) c.*1868A>T (n.*1868A>T) c.2141A>T (p.Tyr714Phe) c.2201A>T (p.Tyr734Phe) c.2195A>T (p.Tyr732Phe) n.2077A>T c.2123A>T (p.Tyr708Phe) c.2093A>T (p.Tyr698Phe) c.107A>T (p.Tyr36Phe) c.2393A>T (p.Tyr798Phe) c.2402A>T (p.Tyr801Phe) c.1748A>T (p.Tyr583Phe) c.2192A>T (p.Tyr731Phe) | |
9 | g.135775325C>A | CA375512151 | KCNT1 | c.2259C>A (p.Tyr753Ter) c.2100C>A (p.Tyr700Ter) c.2007C>A (p.Tyr669Ter) c.2016C>A (p.Tyr672Ter) c.2160C>A (p.Tyr720Ter) c.*1869C>A (n.*1869C>A) c.2142C>A (p.Tyr714Ter) c.2202C>A (p.Tyr734Ter) c.2196C>A (p.Tyr732Ter) n.2078C>A c.2124C>A (p.Tyr708Ter) c.2094C>A (p.Tyr698Ter) c.108C>A (p.Tyr36Ter) c.2394C>A (p.Tyr798Ter) c.2403C>A (p.Tyr801Ter) c.1749C>A (p.Tyr583Ter) c.2193C>A (p.Tyr731Ter) | |
9 | g.135775325C= | CA1883884706 | KCNT1 | c.2259C= (p.Tyr753=) c.2100C= (p.Tyr700=) c.2007C= (p.Tyr669=) c.2016C= (p.Tyr672=) c.2160C= (p.Tyr720=) c.*1869C= (n.*1869C=) c.2142C= (p.Tyr714=) c.2202C= (p.Tyr734=) c.2196C= (p.Tyr732=) n.2078C= c.2124C= (p.Tyr708=) c.2094C= (p.Tyr698=) c.108C= (p.Tyr36=) c.2394C= (p.Tyr798=) c.2403C= (p.Tyr801=) c.1749C= (p.Tyr583=) c.2193C= (p.Tyr731=) | |
9 | g.135775325C>G | CA375512152 | KCNT1 | c.2259C>G (p.Tyr753Ter) c.2100C>G (p.Tyr700Ter) c.2007C>G (p.Tyr669Ter) c.2016C>G (p.Tyr672Ter) c.2160C>G (p.Tyr720Ter) c.*1869C>G (n.*1869C>G) c.2142C>G (p.Tyr714Ter) c.2202C>G (p.Tyr734Ter) c.2196C>G (p.Tyr732Ter) n.2078C>G c.2124C>G (p.Tyr708Ter) c.2094C>G (p.Tyr698Ter) c.108C>G (p.Tyr36Ter) c.2394C>G (p.Tyr798Ter) c.2403C>G (p.Tyr801Ter) c.1749C>G (p.Tyr583Ter) c.2193C>G (p.Tyr731Ter) | |
9 | g.135775325C>T | CA467698721 | KCNT1 | c.2259C>T (p.Tyr753=) c.2100C>T (p.Tyr700=) c.2007C>T (p.Tyr669=) c.2016C>T (p.Tyr672=) c.2160C>T (p.Tyr720=) c.*1869C>T (n.*1869C>T) c.2142C>T (p.Tyr714=) c.2202C>T (p.Tyr734=) c.2196C>T (p.Tyr732=) n.2078C>T c.2124C>T (p.Tyr708=) c.2094C>T (p.Tyr698=) c.108C>T (p.Tyr36=) c.2394C>T (p.Tyr798=) c.2403C>T (p.Tyr801=) c.1749C>T (p.Tyr583=) c.2193C>T (p.Tyr731=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135775326C>A | CA375512155 | KCNT1 | c.2260C>A (p.Pro754Thr) c.2101C>A (p.Pro701Thr) c.2008C>A (p.Pro670Thr) c.2017C>A (p.Pro673Thr) c.2161C>A (p.Pro721Thr) c.*1870C>A (n.*1870C>A) c.2143C>A (p.Pro715Thr) c.2203C>A (p.Pro735Thr) c.2197C>A (p.Pro733Thr) n.2079C>A c.2125C>A (p.Pro709Thr) c.2095C>A (p.Pro699Thr) c.109C>A (p.Pro37Thr) c.2395C>A (p.Pro799Thr) c.2404C>A (p.Pro802Thr) c.1750C>A (p.Pro584Thr) c.2194C>A (p.Pro732Thr) | |
9 | g.135775326C>G | CA375512156 | KCNT1 | c.2260C>G (p.Pro754Ala) c.2101C>G (p.Pro701Ala) c.2008C>G (p.Pro670Ala) c.2017C>G (p.Pro673Ala) c.2161C>G (p.Pro721Ala) c.*1870C>G (n.*1870C>G) c.2143C>G (p.Pro715Ala) c.2203C>G (p.Pro735Ala) c.2197C>G (p.Pro733Ala) n.2079C>G c.2125C>G (p.Pro709Ala) c.2095C>G (p.Pro699Ala) c.109C>G (p.Pro37Ala) c.2395C>G (p.Pro799Ala) c.2404C>G (p.Pro802Ala) c.1750C>G (p.Pro584Ala) c.2194C>G (p.Pro732Ala) | |
9 | g.135775326C>T | CA375512158 | KCNT1 | c.2260C>T (p.Pro754Ser) c.2101C>T (p.Pro701Ser) c.2008C>T (p.Pro670Ser) c.2017C>T (p.Pro673Ser) c.2161C>T (p.Pro721Ser) c.*1870C>T (n.*1870C>T) c.2143C>T (p.Pro715Ser) c.2203C>T (p.Pro735Ser) c.2197C>T (p.Pro733Ser) n.2079C>T c.2125C>T (p.Pro709Ser) c.2095C>T (p.Pro699Ser) c.109C>T (p.Pro37Ser) c.2395C>T (p.Pro799Ser) c.2404C>T (p.Pro802Ser) c.1750C>T (p.Pro584Ser) c.2194C>T (p.Pro732Ser) | |
9 | g.135775326_135775327delinsAA | CA645558135 | KCNT1 | c.2260_2261delinsAA (p.Pro754Asn) c.2101_2102delinsAA (p.Pro701Asn) c.2008_2009delinsAA (p.Pro670Asn) c.2017_2018delinsAA (p.Pro673Asn) c.2161_2162delinsAA (p.Pro721Asn) c.*1870_*1871delinsAA (n.*1870_*1871delinsAA) c.2143_2144delinsAA (p.Pro715Asn) c.2203_2204delinsAA (p.Pro735Asn) c.2197_2198delinsAA (p.Pro733Asn) n.2079_2080delinsAA c.2125_2126delinsAA (p.Pro709Asn) c.2095_2096delinsAA (p.Pro699Asn) c.109_110delinsAA (p.Pro37Asn) c.2395_2396delinsAA (p.Pro799Asn) c.2404_2405delinsAA (p.Pro802Asn) c.1750_1751delinsAA (p.Pro584Asn) c.2194_2195delinsAA (p.Pro732Asn) | COSMIC |
9 | g.135775327C>A | CA375512160 | KCNT1 | c.2261C>A (p.Pro754His) c.2102C>A (p.Pro701His) c.2009C>A (p.Pro670His) c.2018C>A (p.Pro673His) c.2162C>A (p.Pro721His) c.*1871C>A (n.*1871C>A) c.2144C>A (p.Pro715His) c.2204C>A (p.Pro735His) c.2198C>A (p.Pro733His) n.2080C>A c.2126C>A (p.Pro709His) c.2096C>A (p.Pro699His) c.110C>A (p.Pro37His) c.2396C>A (p.Pro799His) c.2405C>A (p.Pro802His) c.1751C>A (p.Pro584His) c.2195C>A (p.Pro732His) | |
9 | g.135775327C>G | CA375512162 | KCNT1 | c.2261C>G (p.Pro754Arg) c.2102C>G (p.Pro701Arg) c.2009C>G (p.Pro670Arg) c.2018C>G (p.Pro673Arg) c.2162C>G (p.Pro721Arg) c.*1871C>G (n.*1871C>G) c.2144C>G (p.Pro715Arg) c.2204C>G (p.Pro735Arg) c.2198C>G (p.Pro733Arg) n.2080C>G c.2126C>G (p.Pro709Arg) c.2096C>G (p.Pro699Arg) c.110C>G (p.Pro37Arg) c.2396C>G (p.Pro799Arg) c.2405C>G (p.Pro802Arg) c.1751C>G (p.Pro584Arg) c.2195C>G (p.Pro732Arg) | |
9 | g.135775327C>T | CA375512163 | KCNT1 | c.2261C>T (p.Pro754Leu) c.2102C>T (p.Pro701Leu) c.2009C>T (p.Pro670Leu) c.2018C>T (p.Pro673Leu) c.2162C>T (p.Pro721Leu) c.*1871C>T (n.*1871C>T) c.2144C>T (p.Pro715Leu) c.2204C>T (p.Pro735Leu) c.2198C>T (p.Pro733Leu) n.2080C>T c.2126C>T (p.Pro709Leu) c.2096C>T (p.Pro699Leu) c.110C>T (p.Pro37Leu) c.2396C>T (p.Pro799Leu) c.2405C>T (p.Pro802Leu) c.1751C>T (p.Pro584Leu) c.2195C>T (p.Pro732Leu) | |
9 | g.135775328T>A | CA467698724 | KCNT1 | c.2262T>A (p.Pro754=) c.2103T>A (p.Pro701=) c.2010T>A (p.Pro670=) c.2019T>A (p.Pro673=) c.2163T>A (p.Pro721=) c.*1872T>A (n.*1872T>A) c.2145T>A (p.Pro715=) c.2205T>A (p.Pro735=) c.2199T>A (p.Pro733=) n.2081T>A c.2127T>A (p.Pro709=) c.2097T>A (p.Pro699=) c.111T>A (p.Pro37=) c.2397T>A (p.Pro799=) c.2406T>A (p.Pro802=) c.1752T>A (p.Pro584=) c.2196T>A (p.Pro732=) | |
9 | g.135775328T>C | CA467698725 | KCNT1 | c.2262T>C (p.Pro754=) c.2103T>C (p.Pro701=) c.2010T>C (p.Pro670=) c.2019T>C (p.Pro673=) c.2163T>C (p.Pro721=) c.*1872T>C (n.*1872T>C) c.2145T>C (p.Pro715=) c.2205T>C (p.Pro735=) c.2199T>C (p.Pro733=) n.2081T>C c.2127T>C (p.Pro709=) c.2097T>C (p.Pro699=) c.111T>C (p.Pro37=) c.2397T>C (p.Pro799=) c.2406T>C (p.Pro802=) c.1752T>C (p.Pro584=) c.2196T>C (p.Pro732=) | |
9 | g.135775328T>G | CA467698726 | KCNT1 | c.2262T>G (p.Pro754=) c.2103T>G (p.Pro701=) c.2010T>G (p.Pro670=) c.2019T>G (p.Pro673=) c.2163T>G (p.Pro721=) c.*1872T>G (n.*1872T>G) c.2145T>G (p.Pro715=) c.2205T>G (p.Pro735=) c.2199T>G (p.Pro733=) n.2081T>G c.2127T>G (p.Pro709=) c.2097T>G (p.Pro699=) c.111T>G (p.Pro37=) c.2397T>G (p.Pro799=) c.2406T>G (p.Pro802=) c.1752T>G (p.Pro584=) c.2196T>G (p.Pro732=) | |
9 | g.135775329C>A | CA375512168 | KCNT1 | c.2263C>A (p.Pro755Thr) c.2104C>A (p.Pro702Thr) c.2011C>A (p.Pro671Thr) c.2020C>A (p.Pro674Thr) c.2164C>A (p.Pro722Thr) c.*1873C>A (n.*1873C>A) c.2146C>A (p.Pro716Thr) c.2206C>A (p.Pro736Thr) c.2200C>A (p.Pro734Thr) n.2082C>A c.2128C>A (p.Pro710Thr) c.2098C>A (p.Pro700Thr) c.112C>A (p.Pro38Thr) c.2398C>A (p.Pro800Thr) c.2407C>A (p.Pro803Thr) c.1753C>A (p.Pro585Thr) c.2197C>A (p.Pro733Thr) | |
9 | g.135775329C= | CA1883884710 | KCNT1 | c.2263C= (p.Pro755=) c.2104C= (p.Pro702=) c.2011C= (p.Pro671=) c.2020C= (p.Pro674=) c.2164C= (p.Pro722=) c.*1873C= (n.*1873C=) c.2146C= (p.Pro716=) c.2206C= (p.Pro736=) c.2200C= (p.Pro734=) n.2082C= c.2128C= (p.Pro710=) c.2098C= (p.Pro700=) c.112C= (p.Pro38=) c.2398C= (p.Pro800=) c.2407C= (p.Pro803=) c.1753C= (p.Pro585=) c.2197C= (p.Pro733=) | |
9 | g.135775329C>G | CA375512166 | KCNT1 | c.2263C>G (p.Pro755Ala) c.2104C>G (p.Pro702Ala) c.2011C>G (p.Pro671Ala) c.2020C>G (p.Pro674Ala) c.2164C>G (p.Pro722Ala) c.*1873C>G (n.*1873C>G) c.2146C>G (p.Pro716Ala) c.2206C>G (p.Pro736Ala) c.2200C>G (p.Pro734Ala) n.2082C>G c.2128C>G (p.Pro710Ala) c.2098C>G (p.Pro700Ala) c.112C>G (p.Pro38Ala) c.2398C>G (p.Pro800Ala) c.2407C>G (p.Pro803Ala) c.1753C>G (p.Pro585Ala) c.2197C>G (p.Pro733Ala) | |
9 | g.135775329C>T | CA375512165 | KCNT1 | c.2263C>T (p.Pro755Ser) c.2104C>T (p.Pro702Ser) c.2011C>T (p.Pro671Ser) c.2020C>T (p.Pro674Ser) c.2164C>T (p.Pro722Ser) c.*1873C>T (n.*1873C>T) c.2146C>T (p.Pro716Ser) c.2206C>T (p.Pro736Ser) c.2200C>T (p.Pro734Ser) n.2082C>T c.2128C>T (p.Pro710Ser) c.2098C>T (p.Pro700Ser) c.112C>T (p.Pro38Ser) c.2398C>T (p.Pro800Ser) c.2407C>T (p.Pro803Ser) c.1753C>T (p.Pro585Ser) c.2197C>T (p.Pro733Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135775331dup | CA2838201084 | KCNT1 | c.2265dup (p.Asn756GlnfsTer?) c.2106dup (p.Asn703GlnfsTer?) c.2013dup (p.Asn672GlnfsTer?) c.2022dup (p.Asn675GlnfsTer?) c.2166dup (p.Asn723GlnfsTer?) c.*1875dup (n.*1875dup) c.2148dup (p.Asn717GlnfsTer?) c.2208dup (p.Asn737GlnfsTer?) c.2202dup (p.Asn735GlnfsTer?) n.2084dup c.2130dup (p.Asn711GlnfsTer?) c.2100dup (p.Asn701GlnfsTer?) c.114dup (p.Asn39GlnfsTer?) c.2400dup (p.Asn801GlnfsTer?) c.2409dup (p.Asn804GlnfsTer?) c.1755dup (p.Asn586GlnfsTer?) c.2199dup (p.Asn734GlnfsTer?) | |
9 | g.135775330C>A | CA375512170 | KCNT1 | c.2264C>A (p.Pro755His) c.2105C>A (p.Pro702His) c.2012C>A (p.Pro671His) c.2021C>A (p.Pro674His) c.2165C>A (p.Pro722His) c.*1874C>A (n.*1874C>A) c.2147C>A (p.Pro716His) c.2207C>A (p.Pro736His) c.2201C>A (p.Pro734His) n.2083C>A c.2129C>A (p.Pro710His) c.2099C>A (p.Pro700His) c.113C>A (p.Pro38His) c.2399C>A (p.Pro800His) c.2408C>A (p.Pro803His) c.1754C>A (p.Pro585His) c.2198C>A (p.Pro733His) | gnomAD v4 |
9 | g.135775330C>G | CA375512171 | KCNT1 | c.2264C>G (p.Pro755Arg) c.2105C>G (p.Pro702Arg) c.2012C>G (p.Pro671Arg) c.2021C>G (p.Pro674Arg) c.2165C>G (p.Pro722Arg) c.*1874C>G (n.*1874C>G) c.2147C>G (p.Pro716Arg) c.2207C>G (p.Pro736Arg) c.2201C>G (p.Pro734Arg) n.2083C>G c.2129C>G (p.Pro710Arg) c.2099C>G (p.Pro700Arg) c.113C>G (p.Pro38Arg) c.2399C>G (p.Pro800Arg) c.2408C>G (p.Pro803Arg) c.1754C>G (p.Pro585Arg) c.2198C>G (p.Pro733Arg) | |
9 | g.135775330C>T | CA375512173 | KCNT1 | c.2264C>T (p.Pro755Leu) c.2105C>T (p.Pro702Leu) c.2012C>T (p.Pro671Leu) c.2021C>T (p.Pro674Leu) c.2165C>T (p.Pro722Leu) c.*1874C>T (n.*1874C>T) c.2147C>T (p.Pro716Leu) c.2207C>T (p.Pro736Leu) c.2201C>T (p.Pro734Leu) n.2083C>T c.2129C>T (p.Pro710Leu) c.2099C>T (p.Pro700Leu) c.113C>T (p.Pro38Leu) c.2399C>T (p.Pro800Leu) c.2408C>T (p.Pro803Leu) c.1754C>T (p.Pro585Leu) c.2198C>T (p.Pro733Leu) | |
9 | g.135775331C>A | CA467698729 | KCNT1 | c.2265C>A (p.Pro755=) c.2106C>A (p.Pro702=) c.2013C>A (p.Pro671=) c.2022C>A (p.Pro674=) c.2166C>A (p.Pro722=) c.*1875C>A (n.*1875C>A) c.2148C>A (p.Pro716=) c.2208C>A (p.Pro736=) c.2202C>A (p.Pro734=) n.2084C>A c.2130C>A (p.Pro710=) c.2100C>A (p.Pro700=) c.114C>A (p.Pro38=) c.2400C>A (p.Pro800=) c.2409C>A (p.Pro803=) c.1755C>A (p.Pro585=) c.2199C>A (p.Pro733=) | |
9 | g.135775331C= | CA1883884715 | KCNT1 | c.2265C= (p.Pro755=) c.2106C= (p.Pro702=) c.2013C= (p.Pro671=) c.2022C= (p.Pro674=) c.2166C= (p.Pro722=) c.*1875C= (n.*1875C=) c.2148C= (p.Pro716=) c.2208C= (p.Pro736=) c.2202C= (p.Pro734=) n.2084C= c.2130C= (p.Pro710=) c.2100C= (p.Pro700=) c.114C= (p.Pro38=) c.2400C= (p.Pro800=) c.2409C= (p.Pro803=) c.1755C= (p.Pro585=) c.2199C= (p.Pro733=) | |
9 | g.135775331C>G | CA467698728 | KCNT1 | c.2265C>G (p.Pro755=) c.2106C>G (p.Pro702=) c.2013C>G (p.Pro671=) c.2022C>G (p.Pro674=) c.2166C>G (p.Pro722=) c.*1875C>G (n.*1875C>G) c.2148C>G (p.Pro716=) c.2208C>G (p.Pro736=) c.2202C>G (p.Pro734=) n.2084C>G c.2130C>G (p.Pro710=) c.2100C>G (p.Pro700=) c.114C>G (p.Pro38=) c.2400C>G (p.Pro800=) c.2409C>G (p.Pro803=) c.1755C>G (p.Pro585=) c.2199C>G (p.Pro733=) | |
9 | g.135775331C>T | CA467698727 | KCNT1 | c.2265C>T (p.Pro755=) c.2106C>T (p.Pro702=) c.2013C>T (p.Pro671=) c.2022C>T (p.Pro674=) c.2166C>T (p.Pro722=) c.*1875C>T (n.*1875C>T) c.2148C>T (p.Pro716=) c.2208C>T (p.Pro736=) c.2202C>T (p.Pro734=) n.2084C>T c.2130C>T (p.Pro710=) c.2100C>T (p.Pro700=) c.114C>T (p.Pro38=) c.2400C>T (p.Pro800=) c.2409C>T (p.Pro803=) c.1755C>T (p.Pro585=) c.2199C>T (p.Pro733=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135775332A>C | CA375512175 | KCNT1 | c.2266A>C (p.Asn756His) c.2107A>C (p.Asn703His) c.2014A>C (p.Asn672His) c.2023A>C (p.Asn675His) c.2167A>C (p.Asn723His) c.*1876A>C (n.*1876A>C) c.2149A>C (p.Asn717His) c.2209A>C (p.Asn737His) c.2203A>C (p.Asn735His) n.2085A>C c.2131A>C (p.Asn711His) c.2101A>C (p.Asn701His) c.115A>C (p.Asn39His) c.2401A>C (p.Asn801His) c.2410A>C (p.Asn804His) c.1756A>C (p.Asn586His) c.2200A>C (p.Asn734His) | |
9 | g.135775332A>G | CA375512177 | KCNT1 | c.2266A>G (p.Asn756Asp) c.2107A>G (p.Asn703Asp) c.2014A>G (p.Asn672Asp) c.2023A>G (p.Asn675Asp) c.2167A>G (p.Asn723Asp) c.*1876A>G (n.*1876A>G) c.2149A>G (p.Asn717Asp) c.2209A>G (p.Asn737Asp) c.2203A>G (p.Asn735Asp) n.2085A>G c.2131A>G (p.Asn711Asp) c.2101A>G (p.Asn701Asp) c.115A>G (p.Asn39Asp) c.2401A>G (p.Asn801Asp) c.2410A>G (p.Asn804Asp) c.1756A>G (p.Asn586Asp) c.2200A>G (p.Asn734Asp) | |
9 | g.135775332A>T | CA375512178 | KCNT1 | c.2266A>T (p.Asn756Tyr) c.2107A>T (p.Asn703Tyr) c.2014A>T (p.Asn672Tyr) c.2023A>T (p.Asn675Tyr) c.2167A>T (p.Asn723Tyr) c.*1876A>T (n.*1876A>T) c.2149A>T (p.Asn717Tyr) c.2209A>T (p.Asn737Tyr) c.2203A>T (p.Asn735Tyr) n.2085A>T c.2131A>T (p.Asn711Tyr) c.2101A>T (p.Asn701Tyr) c.115A>T (p.Asn39Tyr) c.2401A>T (p.Asn801Tyr) c.2410A>T (p.Asn804Tyr) c.1756A>T (p.Asn586Tyr) c.2200A>T (p.Asn734Tyr) | |
9 | g.135775333A= | CA1883884721 | KCNT1 | c.2267A= (p.Asn756=) c.2108A= (p.Asn703=) c.2015A= (p.Asn672=) c.2024A= (p.Asn675=) c.2168A= (p.Asn723=) c.*1877A= (n.*1877A=) c.2150A= (p.Asn717=) c.2210A= (p.Asn737=) c.2204A= (p.Asn735=) n.2086A= c.2132A= (p.Asn711=) c.2102A= (p.Asn701=) c.116A= (p.Asn39=) c.2402A= (p.Asn801=) c.2411A= (p.Asn804=) c.1757A= (p.Asn586=) c.2201A= (p.Asn734=) | |
9 | g.135775333A>C | CA375512180 | KCNT1 | c.2267A>C (p.Asn756Thr) c.2108A>C (p.Asn703Thr) c.2015A>C (p.Asn672Thr) c.2024A>C (p.Asn675Thr) c.2168A>C (p.Asn723Thr) c.*1877A>C (n.*1877A>C) c.2150A>C (p.Asn717Thr) c.2210A>C (p.Asn737Thr) c.2204A>C (p.Asn735Thr) n.2086A>C c.2132A>C (p.Asn711Thr) c.2102A>C (p.Asn701Thr) c.116A>C (p.Asn39Thr) c.2402A>C (p.Asn801Thr) c.2411A>C (p.Asn804Thr) c.1757A>C (p.Asn586Thr) c.2201A>C (p.Asn734Thr) | |
9 | g.135775333A>G | CA5327244 | KCNT1 | c.2267A>G (p.Asn756Ser) c.2108A>G (p.Asn703Ser) c.2015A>G (p.Asn672Ser) c.2024A>G (p.Asn675Ser) c.2168A>G (p.Asn723Ser) c.*1877A>G (n.*1877A>G) c.2150A>G (p.Asn717Ser) c.2210A>G (p.Asn737Ser) c.2204A>G (p.Asn735Ser) n.2086A>G c.2132A>G (p.Asn711Ser) c.2102A>G (p.Asn701Ser) c.116A>G (p.Asn39Ser) c.2402A>G (p.Asn801Ser) c.2411A>G (p.Asn804Ser) c.1757A>G (p.Asn586Ser) c.2201A>G (p.Asn734Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135775333A>T | CA375512182 | KCNT1 | c.2267A>T (p.Asn756Ile) c.2108A>T (p.Asn703Ile) c.2015A>T (p.Asn672Ile) c.2024A>T (p.Asn675Ile) c.2168A>T (p.Asn723Ile) c.*1877A>T (n.*1877A>T) c.2150A>T (p.Asn717Ile) c.2210A>T (p.Asn737Ile) c.2204A>T (p.Asn735Ile) n.2086A>T c.2132A>T (p.Asn711Ile) c.2102A>T (p.Asn701Ile) c.116A>T (p.Asn39Ile) c.2402A>T (p.Asn801Ile) c.2411A>T (p.Asn804Ile) c.1757A>T (p.Asn586Ile) c.2201A>T (p.Asn734Ile) | |
9 | g.135775334C>A | CA375512184 | KCNT1 | c.2268C>A (p.Asn756Lys) c.2109C>A (p.Asn703Lys) c.2016C>A (p.Asn672Lys) c.2025C>A (p.Asn675Lys) c.2169C>A (p.Asn723Lys) c.*1878C>A (n.*1878C>A) c.2151C>A (p.Asn717Lys) c.2211C>A (p.Asn737Lys) c.2205C>A (p.Asn735Lys) n.2087C>A c.2133C>A (p.Asn711Lys) c.2103C>A (p.Asn701Lys) c.117C>A (p.Asn39Lys) c.2403C>A (p.Asn801Lys) c.2412C>A (p.Asn804Lys) c.1758C>A (p.Asn586Lys) c.2202C>A (p.Asn734Lys) | ClinVar COSMIC COSMIC |
9 | g.135775334C>G | CA375512187 | KCNT1 | c.2268C>G (p.Asn756Lys) c.2109C>G (p.Asn703Lys) c.2016C>G (p.Asn672Lys) c.2025C>G (p.Asn675Lys) c.2169C>G (p.Asn723Lys) c.*1878C>G (n.*1878C>G) c.2151C>G (p.Asn717Lys) c.2211C>G (p.Asn737Lys) c.2205C>G (p.Asn735Lys) n.2087C>G c.2133C>G (p.Asn711Lys) c.2103C>G (p.Asn701Lys) c.117C>G (p.Asn39Lys) c.2403C>G (p.Asn801Lys) c.2412C>G (p.Asn804Lys) c.1758C>G (p.Asn586Lys) c.2202C>G (p.Asn734Lys) | |
9 | g.135775334C>T | CA467698731 | KCNT1 | c.2268C>T (p.Asn756=) c.2109C>T (p.Asn703=) c.2016C>T (p.Asn672=) c.2025C>T (p.Asn675=) c.2169C>T (p.Asn723=) c.*1878C>T (n.*1878C>T) c.2151C>T (p.Asn717=) c.2211C>T (p.Asn737=) c.2205C>T (p.Asn735=) n.2087C>T c.2133C>T (p.Asn711=) c.2103C>T (p.Asn701=) c.117C>T (p.Asn39=) c.2403C>T (p.Asn801=) c.2412C>T (p.Asn804=) c.1758C>T (p.Asn586=) c.2202C>T (p.Asn734=) | |
9 | g.135775335T>A | CA375512193 | KCNT1 | c.2269T>A (p.Ser757Thr) c.2110T>A (p.Ser704Thr) c.2017T>A (p.Ser673Thr) c.2026T>A (p.Ser676Thr) c.2170T>A (p.Ser724Thr) c.*1879T>A (n.*1879T>A) c.2152T>A (p.Ser718Thr) c.2212T>A (p.Ser738Thr) c.2206T>A (p.Ser736Thr) n.2088T>A c.2134T>A (p.Ser712Thr) c.2104T>A (p.Ser702Thr) c.118T>A (p.Ser40Thr) c.2404T>A (p.Ser802Thr) c.2413T>A (p.Ser805Thr) c.1759T>A (p.Ser587Thr) c.2203T>A (p.Ser735Thr) | |
9 | g.135775335T>C | CA375512191 | KCNT1 | c.2269T>C (p.Ser757Pro) c.2110T>C (p.Ser704Pro) c.2017T>C (p.Ser673Pro) c.2026T>C (p.Ser676Pro) c.2170T>C (p.Ser724Pro) c.*1879T>C (n.*1879T>C) c.2152T>C (p.Ser718Pro) c.2212T>C (p.Ser738Pro) c.2206T>C (p.Ser736Pro) n.2088T>C c.2134T>C (p.Ser712Pro) c.2104T>C (p.Ser702Pro) c.118T>C (p.Ser40Pro) c.2404T>C (p.Ser802Pro) c.2413T>C (p.Ser805Pro) c.1759T>C (p.Ser587Pro) c.2203T>C (p.Ser735Pro) | |
9 | g.135775335T>G | CA375512189 | KCNT1 | c.2269T>G (p.Ser757Ala) c.2110T>G (p.Ser704Ala) c.2017T>G (p.Ser673Ala) c.2026T>G (p.Ser676Ala) c.2170T>G (p.Ser724Ala) c.*1879T>G (n.*1879T>G) c.2152T>G (p.Ser718Ala) c.2212T>G (p.Ser738Ala) c.2206T>G (p.Ser736Ala) n.2088T>G c.2134T>G (p.Ser712Ala) c.2104T>G (p.Ser702Ala) c.118T>G (p.Ser40Ala) c.2404T>G (p.Ser802Ala) c.2413T>G (p.Ser805Ala) c.1759T>G (p.Ser587Ala) c.2203T>G (p.Ser735Ala) | |
9 | g.135775336C>A | CA375512194 | KCNT1 | c.2270C>A (p.Ser757Ter) c.2111C>A (p.Ser704Ter) c.2018C>A (p.Ser673Ter) c.2027C>A (p.Ser676Ter) c.2171C>A (p.Ser724Ter) c.*1880C>A (n.*1880C>A) c.2153C>A (p.Ser718Ter) c.2213C>A (p.Ser738Ter) c.2207C>A (p.Ser736Ter) n.2089C>A c.2135C>A (p.Ser712Ter) c.2105C>A (p.Ser702Ter) c.119C>A (p.Ser40Ter) c.2405C>A (p.Ser802Ter) c.2414C>A (p.Ser805Ter) c.1760C>A (p.Ser587Ter) c.2204C>A (p.Ser735Ter) | |
9 | g.135775336C= | CA1883884727 | KCNT1 | c.2270C= (p.Ser757=) c.2111C= (p.Ser704=) c.2018C= (p.Ser673=) c.2027C= (p.Ser676=) c.2171C= (p.Ser724=) c.*1880C= (n.*1880C=) c.2153C= (p.Ser718=) c.2213C= (p.Ser738=) c.2207C= (p.Ser736=) n.2089C= c.2135C= (p.Ser712=) c.2105C= (p.Ser702=) c.119C= (p.Ser40=) c.2405C= (p.Ser802=) c.2414C= (p.Ser805=) c.1760C= (p.Ser587=) c.2204C= (p.Ser735=) | |
9 | g.135775336C>G | CA375512196 | KCNT1 | c.2270C>G (p.Ser757Trp) c.2111C>G (p.Ser704Trp) c.2018C>G (p.Ser673Trp) c.2027C>G (p.Ser676Trp) c.2171C>G (p.Ser724Trp) c.*1880C>G (n.*1880C>G) c.2153C>G (p.Ser718Trp) c.2213C>G (p.Ser738Trp) c.2207C>G (p.Ser736Trp) n.2089C>G c.2135C>G (p.Ser712Trp) c.2105C>G (p.Ser702Trp) c.119C>G (p.Ser40Trp) c.2405C>G (p.Ser802Trp) c.2414C>G (p.Ser805Trp) c.1760C>G (p.Ser587Trp) c.2204C>G (p.Ser735Trp) | |
9 | g.135775336C>T | CA5327245 | KCNT1 | c.2270C>T (p.Ser757Leu) c.2111C>T (p.Ser704Leu) c.2018C>T (p.Ser673Leu) c.2027C>T (p.Ser676Leu) c.2171C>T (p.Ser724Leu) c.*1880C>T (n.*1880C>T) c.2153C>T (p.Ser718Leu) c.2213C>T (p.Ser738Leu) c.2207C>T (p.Ser736Leu) n.2089C>T c.2135C>T (p.Ser712Leu) c.2105C>T (p.Ser702Leu) c.119C>T (p.Ser40Leu) c.2405C>T (p.Ser802Leu) c.2414C>T (p.Ser805Leu) c.1760C>T (p.Ser587Leu) c.2204C>T (p.Ser735Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135775337G>A | CA5327246 | KCNT1 | c.2271G>A (p.Ser757=) c.2112G>A (p.Ser704=) c.2019G>A (p.Ser673=) c.2028G>A (p.Ser676=) c.2172G>A (p.Ser724=) c.*1881G>A (n.*1881G>A) c.2154G>A (p.Ser718=) c.2214G>A (p.Ser738=) c.2208G>A (p.Ser736=) n.2090G>A c.2136G>A (p.Ser712=) c.2106G>A (p.Ser702=) c.120G>A (p.Ser40=) c.2406G>A (p.Ser802=) c.2415G>A (p.Ser805=) c.1761G>A (p.Ser587=) c.2205G>A (p.Ser735=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135775337G>C | CA467698734 | KCNT1 | c.2271G>C (p.Ser757=) c.2112G>C (p.Ser704=) c.2019G>C (p.Ser673=) c.2028G>C (p.Ser676=) c.2172G>C (p.Ser724=) c.*1881G>C (n.*1881G>C) c.2154G>C (p.Ser718=) c.2214G>C (p.Ser738=) c.2208G>C (p.Ser736=) n.2090G>C c.2136G>C (p.Ser712=) c.2106G>C (p.Ser702=) c.120G>C (p.Ser40=) c.2406G>C (p.Ser802=) c.2415G>C (p.Ser805=) c.1761G>C (p.Ser587=) c.2205G>C (p.Ser735=) | gnomAD v3 gnomAD v4 |
9 | g.135775337G= | CA1883884737 | KCNT1 | c.2271G= (p.Ser757=) c.2112G= (p.Ser704=) c.2019G= (p.Ser673=) c.2028G= (p.Ser676=) c.2172G= (p.Ser724=) c.*1881G= (n.*1881G=) c.2154G= (p.Ser718=) c.2214G= (p.Ser738=) c.2208G= (p.Ser736=) n.2090G= c.2136G= (p.Ser712=) c.2106G= (p.Ser702=) c.120G= (p.Ser40=) c.2406G= (p.Ser802=) c.2415G= (p.Ser805=) c.1761G= (p.Ser587=) c.2205G= (p.Ser735=) | |
9 | g.135775337G>T | CA467698736 | KCNT1 | c.2271G>T (p.Ser757=) c.2112G>T (p.Ser704=) c.2019G>T (p.Ser673=) c.2028G>T (p.Ser676=) c.2172G>T (p.Ser724=) c.*1881G>T (n.*1881G>T) c.2154G>T (p.Ser718=) c.2214G>T (p.Ser738=) c.2208G>T (p.Ser736=) n.2090G>T c.2136G>T (p.Ser712=) c.2106G>T (p.Ser702=) c.120G>T (p.Ser40=) c.2406G>T (p.Ser802=) c.2415G>T (p.Ser805=) c.1761G>T (p.Ser587=) c.2205G>T (p.Ser735=) | dbSNP gnomAD v4 |
9 | g.135775338C>A | CA375512197 | KCNT1 | c.2272C>A (p.Pro758Thr) c.2113C>A (p.Pro705Thr) c.2020C>A (p.Pro674Thr) c.2029C>A (p.Pro677Thr) c.2173C>A (p.Pro725Thr) c.*1882C>A (n.*1882C>A) c.2155C>A (p.Pro719Thr) c.2215C>A (p.Pro739Thr) c.2209C>A (p.Pro737Thr) n.2091C>A c.2137C>A (p.Pro713Thr) c.2107C>A (p.Pro703Thr) c.121C>A (p.Pro41Thr) c.2407C>A (p.Pro803Thr) c.2416C>A (p.Pro806Thr) c.1762C>A (p.Pro588Thr) c.2206C>A (p.Pro736Thr) | |
9 | g.135775338C= | CA1883884743 | KCNT1 | c.2272C= (p.Pro758=) c.2113C= (p.Pro705=) c.2020C= (p.Pro674=) c.2029C= (p.Pro677=) c.2173C= (p.Pro725=) c.*1882C= (n.*1882C=) c.2155C= (p.Pro719=) c.2215C= (p.Pro739=) c.2209C= (p.Pro737=) n.2091C= c.2137C= (p.Pro713=) c.2107C= (p.Pro703=) c.121C= (p.Pro41=) c.2407C= (p.Pro803=) c.2416C= (p.Pro806=) c.1762C= (p.Pro588=) c.2206C= (p.Pro736=) | |
9 | g.135775338C>G | CA375512198 | KCNT1 | c.2272C>G (p.Pro758Ala) c.2113C>G (p.Pro705Ala) c.2020C>G (p.Pro674Ala) c.2029C>G (p.Pro677Ala) c.2173C>G (p.Pro725Ala) c.*1882C>G (n.*1882C>G) c.2155C>G (p.Pro719Ala) c.2215C>G (p.Pro739Ala) c.2209C>G (p.Pro737Ala) n.2091C>G c.2137C>G (p.Pro713Ala) c.2107C>G (p.Pro703Ala) c.121C>G (p.Pro41Ala) c.2407C>G (p.Pro803Ala) c.2416C>G (p.Pro806Ala) c.1762C>G (p.Pro588Ala) c.2206C>G (p.Pro736Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135775338C>T | CA375512200 | KCNT1 | c.2272C>T (p.Pro758Ser) c.2113C>T (p.Pro705Ser) c.2020C>T (p.Pro674Ser) c.2029C>T (p.Pro677Ser) c.2173C>T (p.Pro725Ser) c.*1882C>T (n.*1882C>T) c.2155C>T (p.Pro719Ser) c.2215C>T (p.Pro739Ser) c.2209C>T (p.Pro737Ser) n.2091C>T c.2137C>T (p.Pro713Ser) c.2107C>T (p.Pro703Ser) c.121C>T (p.Pro41Ser) c.2407C>T (p.Pro803Ser) c.2416C>T (p.Pro806Ser) c.1762C>T (p.Pro588Ser) c.2206C>T (p.Pro736Ser) | gnomAD v4 COSMIC COSMIC |
9 | g.135775339C>A | CA375512202 | KCNT1 | c.2273C>A (p.Pro758His) c.2114C>A (p.Pro705His) c.2021C>A (p.Pro674His) c.2030C>A (p.Pro677His) c.2174C>A (p.Pro725His) c.*1883C>A (n.*1883C>A) c.2156C>A (p.Pro719His) c.2216C>A (p.Pro739His) c.2210C>A (p.Pro737His) n.2092C>A c.2138C>A (p.Pro713His) c.2108C>A (p.Pro703His) c.122C>A (p.Pro41His) c.2408C>A (p.Pro803His) c.2417C>A (p.Pro806His) c.1763C>A (p.Pro588His) c.2207C>A (p.Pro736His) | |
9 | g.135775339C= | CA1883884746 | KCNT1 | c.2273C= (p.Pro758=) c.2114C= (p.Pro705=) c.2021C= (p.Pro674=) c.2030C= (p.Pro677=) c.2174C= (p.Pro725=) c.*1883C= (n.*1883C=) c.2156C= (p.Pro719=) c.2216C= (p.Pro739=) c.2210C= (p.Pro737=) n.2092C= c.2138C= (p.Pro713=) c.2108C= (p.Pro703=) c.122C= (p.Pro41=) c.2408C= (p.Pro803=) c.2417C= (p.Pro806=) c.1763C= (p.Pro588=) c.2207C= (p.Pro736=) | |
9 | g.135775339C>G | CA375512203 | KCNT1 | c.2273C>G (p.Pro758Arg) c.2114C>G (p.Pro705Arg) c.2021C>G (p.Pro674Arg) c.2030C>G (p.Pro677Arg) c.2174C>G (p.Pro725Arg) c.*1883C>G (n.*1883C>G) c.2156C>G (p.Pro719Arg) c.2216C>G (p.Pro739Arg) c.2210C>G (p.Pro737Arg) n.2092C>G c.2138C>G (p.Pro713Arg) c.2108C>G (p.Pro703Arg) c.122C>G (p.Pro41Arg) c.2408C>G (p.Pro803Arg) c.2417C>G (p.Pro806Arg) c.1763C>G (p.Pro588Arg) c.2207C>G (p.Pro736Arg) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135775339C>T | CA375512205 | KCNT1 | c.2273C>T (p.Pro758Leu) c.2114C>T (p.Pro705Leu) c.2021C>T (p.Pro674Leu) c.2030C>T (p.Pro677Leu) c.2174C>T (p.Pro725Leu) c.*1883C>T (n.*1883C>T) c.2156C>T (p.Pro719Leu) c.2216C>T (p.Pro739Leu) c.2210C>T (p.Pro737Leu) n.2092C>T c.2138C>T (p.Pro713Leu) c.2108C>T (p.Pro703Leu) c.122C>T (p.Pro41Leu) c.2408C>T (p.Pro803Leu) c.2417C>T (p.Pro806Leu) c.1763C>T (p.Pro588Leu) c.2207C>T (p.Pro736Leu) | |
9 | g.135775340C>A | CA467698737 | KCNT1 | c.2274C>A (p.Pro758=) c.2115C>A (p.Pro705=) c.2022C>A (p.Pro674=) c.2031C>A (p.Pro677=) c.2175C>A (p.Pro725=) c.*1884C>A (n.*1884C>A) c.2157C>A (p.Pro719=) c.2217C>A (p.Pro739=) c.2211C>A (p.Pro737=) n.2093C>A c.2139C>A (p.Pro713=) c.2109C>A (p.Pro703=) c.123C>A (p.Pro41=) c.2409C>A (p.Pro803=) c.2418C>A (p.Pro806=) c.1764C>A (p.Pro588=) c.2208C>A (p.Pro736=) | |
9 | g.135775340C= | CA1883884747 | KCNT1 | c.2274C= (p.Pro758=) c.2115C= (p.Pro705=) c.2022C= (p.Pro674=) c.2031C= (p.Pro677=) c.2175C= (p.Pro725=) c.*1884C= (n.*1884C=) c.2157C= (p.Pro719=) c.2217C= (p.Pro739=) c.2211C= (p.Pro737=) n.2093C= c.2139C= (p.Pro713=) c.2109C= (p.Pro703=) c.123C= (p.Pro41=) c.2409C= (p.Pro803=) c.2418C= (p.Pro806=) c.1764C= (p.Pro588=) c.2208C= (p.Pro736=) | |
9 | g.135775340C>G | CA467698738 | KCNT1 | c.2274C>G (p.Pro758=) c.2115C>G (p.Pro705=) c.2022C>G (p.Pro674=) c.2031C>G (p.Pro677=) c.2175C>G (p.Pro725=) c.*1884C>G (n.*1884C>G) c.2157C>G (p.Pro719=) c.2217C>G (p.Pro739=) c.2211C>G (p.Pro737=) n.2093C>G c.2139C>G (p.Pro713=) c.2109C>G (p.Pro703=) c.123C>G (p.Pro41=) c.2409C>G (p.Pro803=) c.2418C>G (p.Pro806=) c.1764C>G (p.Pro588=) c.2208C>G (p.Pro736=) | |
9 | g.135775340C>T | CA467698739 | KCNT1 | c.2274C>T (p.Pro758=) c.2115C>T (p.Pro705=) c.2022C>T (p.Pro674=) c.2031C>T (p.Pro677=) c.2175C>T (p.Pro725=) c.*1884C>T (n.*1884C>T) c.2157C>T (p.Pro719=) c.2217C>T (p.Pro739=) c.2211C>T (p.Pro737=) n.2093C>T c.2139C>T (p.Pro713=) c.2109C>T (p.Pro703=) c.123C>T (p.Pro41=) c.2409C>T (p.Pro803=) c.2418C>T (p.Pro806=) c.1764C>T (p.Pro588=) c.2208C>T (p.Pro736=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135775341T>A | CA375512207 | KCNT1 | c.2275T>A (p.Tyr759Asn) c.2116T>A (p.Tyr706Asn) c.2023T>A (p.Tyr675Asn) c.2032T>A (p.Tyr678Asn) c.2176T>A (p.Tyr726Asn) c.*1885T>A (n.*1885T>A) c.2158T>A (p.Tyr720Asn) c.2218T>A (p.Tyr740Asn) c.2212T>A (p.Tyr738Asn) n.2094T>A c.2140T>A (p.Tyr714Asn) c.2110T>A (p.Tyr704Asn) c.124T>A (p.Tyr42Asn) c.2410T>A (p.Tyr804Asn) c.2419T>A (p.Tyr807Asn) c.1765T>A (p.Tyr589Asn) c.2209T>A (p.Tyr737Asn) | |
9 | g.135775341T>C | CA375512209 | KCNT1 | c.2275T>C (p.Tyr759His) c.2116T>C (p.Tyr706His) c.2023T>C (p.Tyr675His) c.2032T>C (p.Tyr678His) c.2176T>C (p.Tyr726His) c.*1885T>C (n.*1885T>C) c.2158T>C (p.Tyr720His) c.2218T>C (p.Tyr740His) c.2212T>C (p.Tyr738His) n.2094T>C c.2140T>C (p.Tyr714His) c.2110T>C (p.Tyr704His) c.124T>C (p.Tyr42His) c.2410T>C (p.Tyr804His) c.2419T>C (p.Tyr807His) c.1765T>C (p.Tyr589His) c.2209T>C (p.Tyr737His) | |
9 | g.135775341T>G | CA375512210 | KCNT1 | c.2275T>G (p.Tyr759Asp) c.2116T>G (p.Tyr706Asp) c.2023T>G (p.Tyr675Asp) c.2032T>G (p.Tyr678Asp) c.2176T>G (p.Tyr726Asp) c.*1885T>G (n.*1885T>G) c.2158T>G (p.Tyr720Asp) c.2218T>G (p.Tyr740Asp) c.2212T>G (p.Tyr738Asp) n.2094T>G c.2140T>G (p.Tyr714Asp) c.2110T>G (p.Tyr704Asp) c.124T>G (p.Tyr42Asp) c.2410T>G (p.Tyr804Asp) c.2419T>G (p.Tyr807Asp) c.1765T>G (p.Tyr589Asp) c.2209T>G (p.Tyr737Asp) | |
9 | g.135775342A>C | CA375512211 | KCNT1 | c.2276A>C (p.Tyr759Ser) c.2117A>C (p.Tyr706Ser) c.2024A>C (p.Tyr675Ser) c.2033A>C (p.Tyr678Ser) c.2177A>C (p.Tyr726Ser) c.*1886A>C (n.*1886A>C) c.2159A>C (p.Tyr720Ser) c.2219A>C (p.Tyr740Ser) c.2213A>C (p.Tyr738Ser) n.2095A>C c.2141A>C (p.Tyr714Ser) c.2111A>C (p.Tyr704Ser) c.125A>C (p.Tyr42Ser) c.2411A>C (p.Tyr804Ser) c.2420A>C (p.Tyr807Ser) c.1766A>C (p.Tyr589Ser) c.2210A>C (p.Tyr737Ser) | |
9 | g.135775342A>G | CA375512213 | KCNT1 | c.2276A>G (p.Tyr759Cys) c.2117A>G (p.Tyr706Cys) c.2024A>G (p.Tyr675Cys) c.2033A>G (p.Tyr678Cys) c.2177A>G (p.Tyr726Cys) c.*1886A>G (n.*1886A>G) c.2159A>G (p.Tyr720Cys) c.2219A>G (p.Tyr740Cys) c.2213A>G (p.Tyr738Cys) n.2095A>G c.2141A>G (p.Tyr714Cys) c.2111A>G (p.Tyr704Cys) c.125A>G (p.Tyr42Cys) c.2411A>G (p.Tyr804Cys) c.2420A>G (p.Tyr807Cys) c.1766A>G (p.Tyr589Cys) c.2210A>G (p.Tyr737Cys) | |
9 | g.135775342A>T | CA375512212 | KCNT1 | c.2276A>T (p.Tyr759Phe) c.2117A>T (p.Tyr706Phe) c.2024A>T (p.Tyr675Phe) c.2033A>T (p.Tyr678Phe) c.2177A>T (p.Tyr726Phe) c.*1886A>T (n.*1886A>T) c.2159A>T (p.Tyr720Phe) c.2219A>T (p.Tyr740Phe) c.2213A>T (p.Tyr738Phe) n.2095A>T c.2141A>T (p.Tyr714Phe) c.2111A>T (p.Tyr704Phe) c.125A>T (p.Tyr42Phe) c.2411A>T (p.Tyr804Phe) c.2420A>T (p.Tyr807Phe) c.1766A>T (p.Tyr589Phe) c.2210A>T (p.Tyr737Phe) | |
9 | g.135775343C>A | CA375512215 | KCNT1 | c.2277C>A (p.Tyr759Ter) c.2118C>A (p.Tyr706Ter) c.2025C>A (p.Tyr675Ter) c.2034C>A (p.Tyr678Ter) c.2178C>A (p.Tyr726Ter) c.*1887C>A (n.*1887C>A) c.2160C>A (p.Tyr720Ter) c.2220C>A (p.Tyr740Ter) c.2214C>A (p.Tyr738Ter) n.2096C>A c.2142C>A (p.Tyr714Ter) c.2112C>A (p.Tyr704Ter) c.126C>A (p.Tyr42Ter) c.2412C>A (p.Tyr804Ter) c.2421C>A (p.Tyr807Ter) c.1767C>A (p.Tyr589Ter) c.2211C>A (p.Tyr737Ter) | |
9 | g.135775343C>G | CA375512217 | KCNT1 | c.2277C>G (p.Tyr759Ter) c.2118C>G (p.Tyr706Ter) c.2025C>G (p.Tyr675Ter) c.2034C>G (p.Tyr678Ter) c.2178C>G (p.Tyr726Ter) c.*1887C>G (n.*1887C>G) c.2160C>G (p.Tyr720Ter) c.2220C>G (p.Tyr740Ter) c.2214C>G (p.Tyr738Ter) n.2096C>G c.2142C>G (p.Tyr714Ter) c.2112C>G (p.Tyr704Ter) c.126C>G (p.Tyr42Ter) c.2412C>G (p.Tyr804Ter) c.2421C>G (p.Tyr807Ter) c.1767C>G (p.Tyr589Ter) c.2211C>G (p.Tyr737Ter) | |
9 | g.135775343C>T | CA467698740 | KCNT1 | c.2277C>T (p.Tyr759=) c.2118C>T (p.Tyr706=) c.2025C>T (p.Tyr675=) c.2034C>T (p.Tyr678=) c.2178C>T (p.Tyr726=) c.*1887C>T (n.*1887C>T) c.2160C>T (p.Tyr720=) c.2220C>T (p.Tyr740=) c.2214C>T (p.Tyr738=) n.2096C>T c.2142C>T (p.Tyr714=) c.2112C>T (p.Tyr704=) c.126C>T (p.Tyr42=) c.2412C>T (p.Tyr804=) c.2421C>T (p.Tyr807=) c.1767C>T (p.Tyr589=) c.2211C>T (p.Tyr737=) | |
9 | g.135775344A= | CA1883884749 | KCNT1 | c.2278A= (p.Ile760=) c.2119A= (p.Ile707=) c.2026A= (p.Ile676=) c.2035A= (p.Ile679=) c.2179A= (p.Ile727=) c.*1888A= (n.*1888A=) c.2161A= (p.Ile721=) c.2221A= (p.Ile741=) c.2215A= (p.Ile739=) n.2097A= c.2143A= (p.Ile715=) c.2113A= (p.Ile705=) c.127A= (p.Ile43=) c.2413A= (p.Ile805=) c.2422A= (p.Ile808=) c.1768A= (p.Ile590=) c.2212A= (p.Ile738=) | |
9 | g.135775344A>C | CA375512219 | KCNT1 | c.2278A>C (p.Ile760Leu) c.2119A>C (p.Ile707Leu) c.2026A>C (p.Ile676Leu) c.2035A>C (p.Ile679Leu) c.2179A>C (p.Ile727Leu) c.*1888A>C (n.*1888A>C) c.2161A>C (p.Ile721Leu) c.2221A>C (p.Ile741Leu) c.2215A>C (p.Ile739Leu) n.2097A>C c.2143A>C (p.Ile715Leu) c.2113A>C (p.Ile705Leu) c.127A>C (p.Ile43Leu) c.2413A>C (p.Ile805Leu) c.2422A>C (p.Ile808Leu) c.1768A>C (p.Ile590Leu) c.2212A>C (p.Ile738Leu) | |
9 | g.135775344A>G | CA375512220 | KCNT1 | c.2278A>G (p.Ile760Val) c.2119A>G (p.Ile707Val) c.2026A>G (p.Ile676Val) c.2035A>G (p.Ile679Val) c.2179A>G (p.Ile727Val) c.*1888A>G (n.*1888A>G) c.2161A>G (p.Ile721Val) c.2221A>G (p.Ile741Val) c.2215A>G (p.Ile739Val) n.2097A>G c.2143A>G (p.Ile715Val) c.2113A>G (p.Ile705Val) c.127A>G (p.Ile43Val) c.2413A>G (p.Ile805Val) c.2422A>G (p.Ile808Val) c.1768A>G (p.Ile590Val) c.2212A>G (p.Ile738Val) | gnomAD v4 |
9 | g.135775344A>T | CA16618797 | KCNT1 | c.2278A>T (p.Ile760Phe) c.2119A>T (p.Ile707Phe) c.2026A>T (p.Ile676Phe) c.2035A>T (p.Ile679Phe) c.2179A>T (p.Ile727Phe) c.*1888A>T (n.*1888A>T) c.2161A>T (p.Ile721Phe) c.2221A>T (p.Ile741Phe) c.2215A>T (p.Ile739Phe) n.2097A>T c.2143A>T (p.Ile715Phe) c.2113A>T (p.Ile705Phe) c.127A>T (p.Ile43Phe) c.2413A>T (p.Ile805Phe) c.2422A>T (p.Ile808Phe) c.1768A>T (p.Ile590Phe) c.2212A>T (p.Ile738Phe) | ClinVar dbSNP |
9 | g.135775345T>A | CA375512222 | KCNT1 | c.2279T>A (p.Ile760Asn) c.2120T>A (p.Ile707Asn) c.2027T>A (p.Ile676Asn) c.2036T>A (p.Ile679Asn) c.2180T>A (p.Ile727Asn) c.*1889T>A (n.*1889T>A) c.2162T>A (p.Ile721Asn) c.2222T>A (p.Ile741Asn) c.2216T>A (p.Ile739Asn) n.2098T>A c.2144T>A (p.Ile715Asn) c.2114T>A (p.Ile705Asn) c.128T>A (p.Ile43Asn) c.2414T>A (p.Ile805Asn) c.2423T>A (p.Ile808Asn) c.1769T>A (p.Ile590Asn) c.2213T>A (p.Ile738Asn) | |
9 | g.135775345T>C | CA375512224 | KCNT1 | c.2279T>C (p.Ile760Thr) c.2120T>C (p.Ile707Thr) c.2027T>C (p.Ile676Thr) c.2036T>C (p.Ile679Thr) c.2180T>C (p.Ile727Thr) c.*1889T>C (n.*1889T>C) c.2162T>C (p.Ile721Thr) c.2222T>C (p.Ile741Thr) c.2216T>C (p.Ile739Thr) n.2098T>C c.2144T>C (p.Ile715Thr) c.2114T>C (p.Ile705Thr) c.128T>C (p.Ile43Thr) c.2414T>C (p.Ile805Thr) c.2423T>C (p.Ile808Thr) c.1769T>C (p.Ile590Thr) c.2213T>C (p.Ile738Thr) | |
9 | g.135775345T>G | CA375512225 | KCNT1 | c.2279T>G (p.Ile760Ser) c.2120T>G (p.Ile707Ser) c.2027T>G (p.Ile676Ser) c.2036T>G (p.Ile679Ser) c.2180T>G (p.Ile727Ser) c.*1889T>G (n.*1889T>G) c.2162T>G (p.Ile721Ser) c.2222T>G (p.Ile741Ser) c.2216T>G (p.Ile739Ser) n.2098T>G c.2144T>G (p.Ile715Ser) c.2114T>G (p.Ile705Ser) c.128T>G (p.Ile43Ser) c.2414T>G (p.Ile805Ser) c.2423T>G (p.Ile808Ser) c.1769T>G (p.Ile590Ser) c.2213T>G (p.Ile738Ser) | |
9 | g.135775346C>A | CA5327248 | KCNT1 | c.2280C>A (p.Ile760=) c.2121C>A (p.Ile707=) c.2028C>A (p.Ile676=) c.2037C>A (p.Ile679=) c.2181C>A (p.Ile727=) c.*1890C>A (n.*1890C>A) c.2163C>A (p.Ile721=) c.2223C>A (p.Ile741=) c.2217C>A (p.Ile739=) n.2099C>A c.2145C>A (p.Ile715=) c.2115C>A (p.Ile705=) c.129C>A (p.Ile43=) c.2415C>A (p.Ile805=) c.2424C>A (p.Ile808=) c.1770C>A (p.Ile590=) c.2214C>A (p.Ile738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135775346C= | CA1883884760 | KCNT1 | c.2280C= (p.Ile760=) c.2121C= (p.Ile707=) c.2028C= (p.Ile676=) c.2037C= (p.Ile679=) c.2181C= (p.Ile727=) c.*1890C= (n.*1890C=) c.2163C= (p.Ile721=) c.2223C= (p.Ile741=) c.2217C= (p.Ile739=) n.2099C= c.2145C= (p.Ile715=) c.2115C= (p.Ile705=) c.129C= (p.Ile43=) c.2415C= (p.Ile805=) c.2424C= (p.Ile808=) c.1770C= (p.Ile590=) c.2214C= (p.Ile738=) | |
9 | g.135775346C>G | CA130395 | KCNT1 | c.2280C>G (p.Ile760Met) c.2121C>G (p.Ile707Met) c.2028C>G (p.Ile676Met) c.2037C>G (p.Ile679Met) c.2181C>G (p.Ile727Met) c.*1890C>G (n.*1890C>G) c.2163C>G (p.Ile721Met) c.2223C>G (p.Ile741Met) c.2217C>G (p.Ile739Met) n.2099C>G c.2145C>G (p.Ile715Met) c.2115C>G (p.Ile705Met) c.129C>G (p.Ile43Met) c.2415C>G (p.Ile805Met) c.2424C>G (p.Ile808Met) c.1770C>G (p.Ile590Met) c.2214C>G (p.Ile738Met) | ClinVar dbSNP |
9 | g.135775346C>T | CA5327247 | KCNT1 | c.2280C>T (p.Ile760=) c.2121C>T (p.Ile707=) c.2028C>T (p.Ile676=) c.2037C>T (p.Ile679=) c.2181C>T (p.Ile727=) c.*1890C>T (n.*1890C>T) c.2163C>T (p.Ile721=) c.2223C>T (p.Ile741=) c.2217C>T (p.Ile739=) n.2099C>T c.2145C>T (p.Ile715=) c.2115C>T (p.Ile705=) c.129C>T (p.Ile43=) c.2415C>T (p.Ile805=) c.2424C>T (p.Ile808=) c.1770C>T (p.Ile590=) c.2214C>T (p.Ile738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135775347G>A | CA5327249 | KCNT1 | c.2281G>A (p.Gly761Ser) c.2122G>A (p.Gly708Ser) c.2029G>A (p.Gly677Ser) c.2038G>A (p.Gly680Ser) c.2182G>A (p.Gly728Ser) c.*1891G>A (n.*1891G>A) c.2164G>A (p.Gly722Ser) c.2224G>A (p.Gly742Ser) c.2218G>A (p.Gly740Ser) n.2100G>A c.2146G>A (p.Gly716Ser) c.2116G>A (p.Gly706Ser) c.130G>A (p.Gly44Ser) c.2416G>A (p.Gly806Ser) c.2425G>A (p.Gly809Ser) c.1771G>A (p.Gly591Ser) c.2215G>A (p.Gly739Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135775347G>C | CA375512230 | KCNT1 | c.2281G>C (p.Gly761Arg) c.2122G>C (p.Gly708Arg) c.2029G>C (p.Gly677Arg) c.2038G>C (p.Gly680Arg) c.2182G>C (p.Gly728Arg) c.*1891G>C (n.*1891G>C) c.2164G>C (p.Gly722Arg) c.2224G>C (p.Gly742Arg) c.2218G>C (p.Gly740Arg) n.2100G>C c.2146G>C (p.Gly716Arg) c.2116G>C (p.Gly706Arg) c.130G>C (p.Gly44Arg) c.2416G>C (p.Gly806Arg) c.2425G>C (p.Gly809Arg) c.1771G>C (p.Gly591Arg) c.2215G>C (p.Gly739Arg) | |
9 | g.135775347G= | CA1883884776 | KCNT1 | c.2281G= (p.Gly761=) c.2122G= (p.Gly708=) c.2029G= (p.Gly677=) c.2038G= (p.Gly680=) c.2182G= (p.Gly728=) c.*1891G= (n.*1891G=) c.2164G= (p.Gly722=) c.2224G= (p.Gly742=) c.2218G= (p.Gly740=) n.2100G= c.2146G= (p.Gly716=) c.2116G= (p.Gly706=) c.130G= (p.Gly44=) c.2416G= (p.Gly806=) c.2425G= (p.Gly809=) c.1771G= (p.Gly591=) c.2215G= (p.Gly739=) | |
9 | g.135775347G>T | CA375512229 | KCNT1 | c.2281G>T (p.Gly761Cys) c.2122G>T (p.Gly708Cys) c.2029G>T (p.Gly677Cys) c.2038G>T (p.Gly680Cys) c.2182G>T (p.Gly728Cys) c.*1891G>T (n.*1891G>T) c.2164G>T (p.Gly722Cys) c.2224G>T (p.Gly742Cys) c.2218G>T (p.Gly740Cys) n.2100G>T c.2146G>T (p.Gly716Cys) c.2116G>T (p.Gly706Cys) c.130G>T (p.Gly44Cys) c.2416G>T (p.Gly806Cys) c.2425G>T (p.Gly809Cys) c.1771G>T (p.Gly591Cys) c.2215G>T (p.Gly739Cys) | |
9 | g.135775348G>A | CA375512232 | KCNT1 | c.2282G>A (p.Gly761Asp) c.2123G>A (p.Gly708Asp) c.2030G>A (p.Gly677Asp) c.2039G>A (p.Gly680Asp) c.2183G>A (p.Gly728Asp) c.*1892G>A (n.*1892G>A) c.2165G>A (p.Gly722Asp) c.2225G>A (p.Gly742Asp) c.2219G>A (p.Gly740Asp) n.2101G>A c.2147G>A (p.Gly716Asp) c.2117G>A (p.Gly706Asp) c.131G>A (p.Gly44Asp) c.2417G>A (p.Gly806Asp) c.2426G>A (p.Gly809Asp) c.1772G>A (p.Gly591Asp) c.2216G>A (p.Gly739Asp) | |
9 | g.135775348G>C | CA375512231 | KCNT1 | c.2282G>C (p.Gly761Ala) c.2123G>C (p.Gly708Ala) c.2030G>C (p.Gly677Ala) c.2039G>C (p.Gly680Ala) c.2183G>C (p.Gly728Ala) c.*1892G>C (n.*1892G>C) c.2165G>C (p.Gly722Ala) c.2225G>C (p.Gly742Ala) c.2219G>C (p.Gly740Ala) n.2101G>C c.2147G>C (p.Gly716Ala) c.2117G>C (p.Gly706Ala) c.131G>C (p.Gly44Ala) c.2417G>C (p.Gly806Ala) c.2426G>C (p.Gly809Ala) c.1772G>C (p.Gly591Ala) c.2216G>C (p.Gly739Ala) | |
9 | g.135775348G>T | CA375512234 | KCNT1 | c.2282G>T (p.Gly761Val) c.2123G>T (p.Gly708Val) c.2030G>T (p.Gly677Val) c.2039G>T (p.Gly680Val) c.2183G>T (p.Gly728Val) c.*1892G>T (n.*1892G>T) c.2165G>T (p.Gly722Val) c.2225G>T (p.Gly742Val) c.2219G>T (p.Gly740Val) n.2101G>T c.2147G>T (p.Gly716Val) c.2117G>T (p.Gly706Val) c.131G>T (p.Gly44Val) c.2417G>T (p.Gly806Val) c.2426G>T (p.Gly809Val) c.1772G>T (p.Gly591Val) c.2216G>T (p.Gly739Val) | |
9 | g.135775349C>A | CA467698746 | KCNT1 | c.2283C>A (p.Gly761=) c.2124C>A (p.Gly708=) c.2031C>A (p.Gly677=) c.2040C>A (p.Gly680=) c.2184C>A (p.Gly728=) c.*1893C>A (n.*1893C>A) c.2166C>A (p.Gly722=) c.2226C>A (p.Gly742=) c.2220C>A (p.Gly740=) n.2102C>A c.2148C>A (p.Gly716=) c.2118C>A (p.Gly706=) c.132C>A (p.Gly44=) c.2418C>A (p.Gly806=) c.2427C>A (p.Gly809=) c.1773C>A (p.Gly591=) c.2217C>A (p.Gly739=) | |
9 | g.135775349C= | CA1883884783 | KCNT1 | c.2283C= (p.Gly761=) c.2124C= (p.Gly708=) c.2031C= (p.Gly677=) c.2040C= (p.Gly680=) c.2184C= (p.Gly728=) c.*1893C= (n.*1893C=) c.2166C= (p.Gly722=) c.2226C= (p.Gly742=) c.2220C= (p.Gly740=) n.2102C= c.2148C= (p.Gly716=) c.2118C= (p.Gly706=) c.132C= (p.Gly44=) c.2418C= (p.Gly806=) c.2427C= (p.Gly809=) c.1773C= (p.Gly591=) c.2217C= (p.Gly739=) | |
9 | g.135775349C>G | CA467698748 | KCNT1 | c.2283C>G (p.Gly761=) c.2124C>G (p.Gly708=) c.2031C>G (p.Gly677=) c.2040C>G (p.Gly680=) c.2184C>G (p.Gly728=) c.*1893C>G (n.*1893C>G) c.2166C>G (p.Gly722=) c.2226C>G (p.Gly742=) c.2220C>G (p.Gly740=) n.2102C>G c.2148C>G (p.Gly716=) c.2118C>G (p.Gly706=) c.132C>G (p.Gly44=) c.2418C>G (p.Gly806=) c.2427C>G (p.Gly809=) c.1773C>G (p.Gly591=) c.2217C>G (p.Gly739=) | |
9 | g.135775349C>T | CA201476133 | KCNT1 | c.2283C>T (p.Gly761=) c.2124C>T (p.Gly708=) c.2031C>T (p.Gly677=) c.2040C>T (p.Gly680=) c.2184C>T (p.Gly728=) c.*1893C>T (n.*1893C>T) c.2166C>T (p.Gly722=) c.2226C>T (p.Gly742=) c.2220C>T (p.Gly740=) n.2102C>T c.2148C>T (p.Gly716=) c.2118C>T (p.Gly706=) c.132C>T (p.Gly44=) c.2418C>T (p.Gly806=) c.2427C>T (p.Gly809=) c.1773C>T (p.Gly591=) c.2217C>T (p.Gly739=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135775350A= | CA1883884787 | KCNT1 | c.2284A= (p.Ser762=) c.2125A= (p.Ser709=) c.2032A= (p.Ser678=) c.2041A= (p.Ser681=) c.2185A= (p.Ser729=) c.*1894A= (n.*1894A=) c.2167A= (p.Ser723=) c.2227A= (p.Ser743=) c.2221A= (p.Ser741=) n.2103A= c.2149A= (p.Ser717=) c.2119A= (p.Ser707=) c.133A= (p.Ser45=) c.2419A= (p.Ser807=) c.2428A= (p.Ser810=) c.1774A= (p.Ser592=) c.2218A= (p.Ser740=) | |
9 | g.135775350A>C | CA375512235 | KCNT1 | c.2284A>C (p.Ser762Arg) c.2125A>C (p.Ser709Arg) c.2032A>C (p.Ser678Arg) c.2041A>C (p.Ser681Arg) c.2185A>C (p.Ser729Arg) c.*1894A>C (n.*1894A>C) c.2167A>C (p.Ser723Arg) c.2227A>C (p.Ser743Arg) c.2221A>C (p.Ser741Arg) n.2103A>C c.2149A>C (p.Ser717Arg) c.2119A>C (p.Ser707Arg) c.133A>C (p.Ser45Arg) c.2419A>C (p.Ser807Arg) c.2428A>C (p.Ser810Arg) c.1774A>C (p.Ser592Arg) c.2218A>C (p.Ser740Arg) | |
9 | g.135775350A>G | CA375512236 | KCNT1 | c.2284A>G (p.Ser762Gly) c.2125A>G (p.Ser709Gly) c.2032A>G (p.Ser678Gly) c.2041A>G (p.Ser681Gly) c.2185A>G (p.Ser729Gly) c.*1894A>G (n.*1894A>G) c.2167A>G (p.Ser723Gly) c.2227A>G (p.Ser743Gly) c.2221A>G (p.Ser741Gly) n.2103A>G c.2149A>G (p.Ser717Gly) c.2119A>G (p.Ser707Gly) c.133A>G (p.Ser45Gly) c.2419A>G (p.Ser807Gly) c.2428A>G (p.Ser810Gly) c.1774A>G (p.Ser592Gly) c.2218A>G (p.Ser740Gly) | |
9 | g.135775350A>T | CA375512237 | KCNT1 | c.2284A>T (p.Ser762Cys) c.2125A>T (p.Ser709Cys) c.2032A>T (p.Ser678Cys) c.2041A>T (p.Ser681Cys) c.2185A>T (p.Ser729Cys) c.*1894A>T (n.*1894A>T) c.2167A>T (p.Ser723Cys) c.2227A>T (p.Ser743Cys) c.2221A>T (p.Ser741Cys) n.2103A>T c.2149A>T (p.Ser717Cys) c.2119A>T (p.Ser707Cys) c.133A>T (p.Ser45Cys) c.2419A>T (p.Ser807Cys) c.2428A>T (p.Ser810Cys) c.1774A>T (p.Ser592Cys) c.2218A>T (p.Ser740Cys) | |
9 | g.135775351G>A | CA375512241 | KCNT1 | c.2285G>A (p.Ser762Asn) c.2126G>A (p.Ser709Asn) c.2033G>A (p.Ser678Asn) c.2042G>A (p.Ser681Asn) c.2186G>A (p.Ser729Asn) c.*1895G>A (n.*1895G>A) c.2168G>A (p.Ser723Asn) c.2228G>A (p.Ser743Asn) c.2222G>A (p.Ser741Asn) n.2104G>A c.2150G>A (p.Ser717Asn) c.2120G>A (p.Ser707Asn) c.134G>A (p.Ser45Asn) c.2420G>A (p.Ser807Asn) c.2429G>A (p.Ser810Asn) c.1775G>A (p.Ser592Asn) c.2219G>A (p.Ser740Asn) | gnomAD v4 |
9 | g.135775351G>C | CA375512242 | KCNT1 | c.2285G>C (p.Ser762Thr) c.2126G>C (p.Ser709Thr) c.2033G>C (p.Ser678Thr) c.2042G>C (p.Ser681Thr) c.2186G>C (p.Ser729Thr) c.*1895G>C (n.*1895G>C) c.2168G>C (p.Ser723Thr) c.2228G>C (p.Ser743Thr) c.2222G>C (p.Ser741Thr) n.2104G>C c.2150G>C (p.Ser717Thr) c.2120G>C (p.Ser707Thr) c.134G>C (p.Ser45Thr) c.2420G>C (p.Ser807Thr) c.2429G>C (p.Ser810Thr) c.1775G>C (p.Ser592Thr) c.2219G>C (p.Ser740Thr) | |
9 | g.135775351G>T | CA375512244 | KCNT1 | c.2285G>T (p.Ser762Ile) c.2126G>T (p.Ser709Ile) c.2033G>T (p.Ser678Ile) c.2042G>T (p.Ser681Ile) c.2186G>T (p.Ser729Ile) c.*1895G>T (n.*1895G>T) c.2168G>T (p.Ser723Ile) c.2228G>T (p.Ser743Ile) c.2222G>T (p.Ser741Ile) n.2104G>T c.2150G>T (p.Ser717Ile) c.2120G>T (p.Ser707Ile) c.134G>T (p.Ser45Ile) c.2420G>T (p.Ser807Ile) c.2429G>T (p.Ser810Ile) c.1775G>T (p.Ser592Ile) c.2219G>T (p.Ser740Ile) | |
9 | g.135775351dup | CA201476136 | KCNT1 | c.2285dup (p.Ser762ArgfsTer30) c.2126dup (p.Ser709ArgfsTer30) c.2033dup (p.Ser678ArgfsTer30) c.2042dup (p.Ser681ArgfsTer30) c.2186dup (p.Ser729ArgfsTer30) c.*1895dup (n.*1895dup) c.2168dup (p.Ser723ArgfsTer30) c.2228dup (p.Ser743ArgfsTer30) c.2222dup (p.Ser741ArgfsTer30) n.2104dup c.2150dup (p.Ser717ArgfsTer30) c.2120dup (p.Ser707ArgfsTer30) c.134dup (p.Ser45ArgfsTer30) c.2420dup (p.Ser807ArgfsTer30) c.2429dup (p.Ser810ArgfsTer30) c.1775dup (p.Ser592ArgfsTer30) c.2219dup (p.Ser740ArgfsTer30) | dbSNP |
9 | g.135775352C>A | CA375512246 | KCNT1 | c.2286C>A (p.Ser762Arg) c.2127C>A (p.Ser709Arg) c.2034C>A (p.Ser678Arg) c.2043C>A (p.Ser681Arg) c.2187C>A (p.Ser729Arg) c.*1896C>A (n.*1896C>A) c.2169C>A (p.Ser723Arg) c.2229C>A (p.Ser743Arg) c.2223C>A (p.Ser741Arg) n.2105C>A c.2151C>A (p.Ser717Arg) c.2121C>A (p.Ser707Arg) c.135C>A (p.Ser45Arg) c.2421C>A (p.Ser807Arg) c.2430C>A (p.Ser810Arg) c.1776C>A (p.Ser592Arg) c.2220C>A (p.Ser740Arg) | |
9 | g.135775352C= | CA1883884795 | KCNT1 | c.2286C= (p.Ser762=) c.2127C= (p.Ser709=) c.2034C= (p.Ser678=) c.2043C= (p.Ser681=) c.2187C= (p.Ser729=) c.*1896C= (n.*1896C=) c.2169C= (p.Ser723=) c.2229C= (p.Ser743=) c.2223C= (p.Ser741=) n.2105C= c.2151C= (p.Ser717=) c.2121C= (p.Ser707=) c.135C= (p.Ser45=) c.2421C= (p.Ser807=) c.2430C= (p.Ser810=) c.1776C= (p.Ser592=) c.2220C= (p.Ser740=) | |
9 | g.135775352C>G | CA5327250 | KCNT1 | c.2286C>G (p.Ser762Arg) c.2127C>G (p.Ser709Arg) c.2034C>G (p.Ser678Arg) c.2043C>G (p.Ser681Arg) c.2187C>G (p.Ser729Arg) c.*1896C>G (n.*1896C>G) c.2169C>G (p.Ser723Arg) c.2229C>G (p.Ser743Arg) c.2223C>G (p.Ser741Arg) n.2105C>G c.2151C>G (p.Ser717Arg) c.2121C>G (p.Ser707Arg) c.135C>G (p.Ser45Arg) c.2421C>G (p.Ser807Arg) c.2430C>G (p.Ser810Arg) c.1776C>G (p.Ser592Arg) c.2220C>G (p.Ser740Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135775352C>T | CA467698752 | KCNT1 | c.2286C>T (p.Ser762=) c.2127C>T (p.Ser709=) c.2034C>T (p.Ser678=) c.2043C>T (p.Ser681=) c.2187C>T (p.Ser729=) c.*1896C>T (n.*1896C>T) c.2169C>T (p.Ser723=) c.2229C>T (p.Ser743=) c.2223C>T (p.Ser741=) n.2105C>T c.2151C>T (p.Ser717=) c.2121C>T (p.Ser707=) c.135C>T (p.Ser45=) c.2421C>T (p.Ser807=) c.2430C>T (p.Ser810=) c.1776C>T (p.Ser592=) c.2220C>T (p.Ser740=) | gnomAD v4 |
9 | g.135775356_135775374dup | CA2786247700 | KCNT1 | c.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) | |
9 | g.135775353T>A | CA375512247 | KCNT1 | c.2287T>A (p.Ser763Thr) c.2128T>A (p.Ser710Thr) c.2035T>A (p.Ser679Thr) c.2044T>A (p.Ser682Thr) c.2188T>A (p.Ser730Thr) c.*1897T>A (n.*1897T>A) c.2170T>A (p.Ser724Thr) c.2230T>A (p.Ser744Thr) c.2224T>A (p.Ser742Thr) n.2106T>A c.2152T>A (p.Ser718Thr) c.2122T>A (p.Ser708Thr) c.136T>A (p.Ser46Thr) c.2422T>A (p.Ser808Thr) c.2431T>A (p.Ser811Thr) c.1777T>A (p.Ser593Thr) c.2221T>A (p.Ser741Thr) | |
9 | g.135775353T>C | CA375512248 | KCNT1 | c.2287T>C (p.Ser763Pro) c.2128T>C (p.Ser710Pro) c.2035T>C (p.Ser679Pro) c.2044T>C (p.Ser682Pro) c.2188T>C (p.Ser730Pro) c.*1897T>C (n.*1897T>C) c.2170T>C (p.Ser724Pro) c.2230T>C (p.Ser744Pro) c.2224T>C (p.Ser742Pro) n.2106T>C c.2152T>C (p.Ser718Pro) c.2122T>C (p.Ser708Pro) c.136T>C (p.Ser46Pro) c.2422T>C (p.Ser808Pro) c.2431T>C (p.Ser811Pro) c.1777T>C (p.Ser593Pro) c.2221T>C (p.Ser741Pro) | gnomAD v4 |
9 | g.135775353T>G | CA375512249 | KCNT1 | c.2287T>G (p.Ser763Ala) c.2128T>G (p.Ser710Ala) c.2035T>G (p.Ser679Ala) c.2044T>G (p.Ser682Ala) c.2188T>G (p.Ser730Ala) c.*1897T>G (n.*1897T>G) c.2170T>G (p.Ser724Ala) c.2230T>G (p.Ser744Ala) c.2224T>G (p.Ser742Ala) n.2106T>G c.2152T>G (p.Ser718Ala) c.2122T>G (p.Ser708Ala) c.136T>G (p.Ser46Ala) c.2422T>G (p.Ser808Ala) c.2431T>G (p.Ser811Ala) c.1777T>G (p.Ser593Ala) c.2221T>G (p.Ser741Ala) | dbSNP |
9 | g.135775353T= | CA1883884800 | KCNT1 | c.2287T= (p.Ser763=) c.2128T= (p.Ser710=) c.2035T= (p.Ser679=) c.2044T= (p.Ser682=) c.2188T= (p.Ser730=) c.*1897T= (n.*1897T=) c.2170T= (p.Ser724=) c.2230T= (p.Ser744=) c.2224T= (p.Ser742=) n.2106T= c.2152T= (p.Ser718=) c.2122T= (p.Ser708=) c.136T= (p.Ser46=) c.2422T= (p.Ser808=) c.2431T= (p.Ser811=) c.1777T= (p.Ser593=) c.2221T= (p.Ser741=) | |
9 | g.135775354C>A | CA375512251 | KCNT1 | c.2288C>A (p.Ser763Tyr) c.2129C>A (p.Ser710Tyr) c.2036C>A (p.Ser679Tyr) c.2045C>A (p.Ser682Tyr) c.2189C>A (p.Ser730Tyr) c.*1898C>A (n.*1898C>A) c.2171C>A (p.Ser724Tyr) c.2231C>A (p.Ser744Tyr) c.2225C>A (p.Ser742Tyr) n.2107C>A c.2153C>A (p.Ser718Tyr) c.2123C>A (p.Ser708Tyr) c.137C>A (p.Ser46Tyr) c.2423C>A (p.Ser808Tyr) c.2432C>A (p.Ser811Tyr) c.1778C>A (p.Ser593Tyr) c.2222C>A (p.Ser741Tyr) | |
9 | g.135775354C= | CA1883884809 | KCNT1 | c.2288C= (p.Ser763=) c.2129C= (p.Ser710=) c.2036C= (p.Ser679=) c.2045C= (p.Ser682=) c.2189C= (p.Ser730=) c.*1898C= (n.*1898C=) c.2171C= (p.Ser724=) c.2231C= (p.Ser744=) c.2225C= (p.Ser742=) n.2107C= c.2153C= (p.Ser718=) c.2123C= (p.Ser708=) c.137C= (p.Ser46=) c.2423C= (p.Ser808=) c.2432C= (p.Ser811=) c.1778C= (p.Ser593=) c.2222C= (p.Ser741=) | |
9 | g.135775354C>G | CA375512250 | KCNT1 | c.2288C>G (p.Ser763Cys) c.2129C>G (p.Ser710Cys) c.2036C>G (p.Ser679Cys) c.2045C>G (p.Ser682Cys) c.2189C>G (p.Ser730Cys) c.*1898C>G (n.*1898C>G) c.2171C>G (p.Ser724Cys) c.2231C>G (p.Ser744Cys) c.2225C>G (p.Ser742Cys) n.2107C>G c.2153C>G (p.Ser718Cys) c.2123C>G (p.Ser708Cys) c.137C>G (p.Ser46Cys) c.2423C>G (p.Ser808Cys) c.2432C>G (p.Ser811Cys) c.1778C>G (p.Ser593Cys) c.2222C>G (p.Ser741Cys) | |
9 | g.135775354C>T | CA5327251 | KCNT1 | c.2288C>T (p.Ser763Phe) c.2129C>T (p.Ser710Phe) c.2036C>T (p.Ser679Phe) c.2045C>T (p.Ser682Phe) c.2189C>T (p.Ser730Phe) c.*1898C>T (n.*1898C>T) c.2171C>T (p.Ser724Phe) c.2231C>T (p.Ser744Phe) c.2225C>T (p.Ser742Phe) n.2107C>T c.2153C>T (p.Ser718Phe) c.2123C>T (p.Ser708Phe) c.137C>T (p.Ser46Phe) c.2423C>T (p.Ser808Phe) c.2432C>T (p.Ser811Phe) c.1778C>T (p.Ser593Phe) c.2222C>T (p.Ser741Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.135775355C>A | CA467698753 | KCNT1 | c.2289C>A (p.Ser763=) c.2130C>A (p.Ser710=) c.2037C>A (p.Ser679=) c.2046C>A (p.Ser682=) c.2190C>A (p.Ser730=) c.*1899C>A (n.*1899C>A) c.2172C>A (p.Ser724=) c.2232C>A (p.Ser744=) c.2226C>A (p.Ser742=) n.2108C>A c.2154C>A (p.Ser718=) c.2124C>A (p.Ser708=) c.138C>A (p.Ser46=) c.2424C>A (p.Ser808=) c.2433C>A (p.Ser811=) c.1779C>A (p.Ser593=) c.2223C>A (p.Ser741=) | |
9 | g.135775355C= | CA1883884816 | KCNT1 | c.2289C= (p.Ser763=) c.2130C= (p.Ser710=) c.2037C= (p.Ser679=) c.2046C= (p.Ser682=) c.2190C= (p.Ser730=) c.*1899C= (n.*1899C=) c.2172C= (p.Ser724=) c.2232C= (p.Ser744=) c.2226C= (p.Ser742=) n.2108C= c.2154C= (p.Ser718=) c.2124C= (p.Ser708=) c.138C= (p.Ser46=) c.2424C= (p.Ser808=) c.2433C= (p.Ser811=) c.1779C= (p.Ser593=) c.2223C= (p.Ser741=) | |
9 | g.135775355C>G | CA467698754 | KCNT1 | c.2289C>G (p.Ser763=) c.2130C>G (p.Ser710=) c.2037C>G (p.Ser679=) c.2046C>G (p.Ser682=) c.2190C>G (p.Ser730=) c.*1899C>G (n.*1899C>G) c.2172C>G (p.Ser724=) c.2232C>G (p.Ser744=) c.2226C>G (p.Ser742=) n.2108C>G c.2154C>G (p.Ser718=) c.2124C>G (p.Ser708=) c.138C>G (p.Ser46=) c.2424C>G (p.Ser808=) c.2433C>G (p.Ser811=) c.1779C>G (p.Ser593=) c.2223C>G (p.Ser741=) | |
9 | g.135775355C>T | CA467698755 | KCNT1 | c.2289C>T (p.Ser763=) c.2130C>T (p.Ser710=) c.2037C>T (p.Ser679=) c.2046C>T (p.Ser682=) c.2190C>T (p.Ser730=) c.*1899C>T (n.*1899C>T) c.2172C>T (p.Ser724=) c.2232C>T (p.Ser744=) c.2226C>T (p.Ser742=) n.2108C>T c.2154C>T (p.Ser718=) c.2124C>T (p.Ser708=) c.138C>T (p.Ser46=) c.2424C>T (p.Ser808=) c.2433C>T (p.Ser811=) c.1779C>T (p.Ser593=) c.2223C>T (p.Ser741=) | dbSNP gnomAD v2 COSMIC COSMIC |
9 | g.135775356C>A | CA375512253 | KCNT1 | c.2290C>A (p.Pro764Thr) c.2131C>A (p.Pro711Thr) c.2038C>A (p.Pro680Thr) c.2047C>A (p.Pro683Thr) c.2191C>A (p.Pro731Thr) c.*1900C>A (n.*1900C>A) c.2173C>A (p.Pro725Thr) c.2233C>A (p.Pro745Thr) c.2227C>A (p.Pro743Thr) n.2109C>A c.2155C>A (p.Pro719Thr) c.2125C>A (p.Pro709Thr) c.139C>A (p.Pro47Thr) c.2425C>A (p.Pro809Thr) c.2434C>A (p.Pro812Thr) c.1780C>A (p.Pro594Thr) c.2224C>A (p.Pro742Thr) | |
9 | g.135775356C= | CA1883884821 | KCNT1 | c.2290C= (p.Pro764=) c.2131C= (p.Pro711=) c.2038C= (p.Pro680=) c.2047C= (p.Pro683=) c.2191C= (p.Pro731=) c.*1900C= (n.*1900C=) c.2173C= (p.Pro725=) c.2233C= (p.Pro745=) c.2227C= (p.Pro743=) n.2109C= c.2155C= (p.Pro719=) c.2125C= (p.Pro709=) c.139C= (p.Pro47=) c.2425C= (p.Pro809=) c.2434C= (p.Pro812=) c.1780C= (p.Pro594=) c.2224C= (p.Pro742=) | |
9 | g.135775356C>G | CA375512254 | KCNT1 | c.2290C>G (p.Pro764Ala) c.2131C>G (p.Pro711Ala) c.2038C>G (p.Pro680Ala) c.2047C>G (p.Pro683Ala) c.2191C>G (p.Pro731Ala) c.*1900C>G (n.*1900C>G) c.2173C>G (p.Pro725Ala) c.2233C>G (p.Pro745Ala) c.2227C>G (p.Pro743Ala) n.2109C>G c.2155C>G (p.Pro719Ala) c.2125C>G (p.Pro709Ala) c.139C>G (p.Pro47Ala) c.2425C>G (p.Pro809Ala) c.2434C>G (p.Pro812Ala) c.1780C>G (p.Pro594Ala) c.2224C>G (p.Pro742Ala) | |
9 | g.135775356C>T | CA375512255 | KCNT1 | c.2290C>T (p.Pro764Ser) c.2131C>T (p.Pro711Ser) c.2038C>T (p.Pro680Ser) c.2047C>T (p.Pro683Ser) c.2191C>T (p.Pro731Ser) c.*1900C>T (n.*1900C>T) c.2173C>T (p.Pro725Ser) c.2233C>T (p.Pro745Ser) c.2227C>T (p.Pro743Ser) n.2109C>T c.2155C>T (p.Pro719Ser) c.2125C>T (p.Pro709Ser) c.139C>T (p.Pro47Ser) c.2425C>T (p.Pro809Ser) c.2434C>T (p.Pro812Ser) c.1780C>T (p.Pro594Ser) c.2224C>T (p.Pro742Ser) | dbSNP |
9 | g.135775357C>A | CA375512256 | KCNT1 | c.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) | |
9 | g.135775357C= | CA1883884827 | KCNT1 | c.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=) | |
9 | g.135775357C>G | CA375512257 | KCNT1 | c.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) | |
9 | g.135775357C>T | CA375512258 | KCNT1 | c.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 |
9 | g.135775357_135775358delinsCA | CA1883884826 | KCNT1 | c.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=) | |
9 | g.135775358A= | CA1883884833 | KCNT1 | c.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=) | |
9 | g.135775358A>C | CA5327252 | KCNT1 | c.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 |
9 | g.135775358A>G | CA467698758 | KCNT1 | c.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 |
9 | g.135775358A>T | CA467698759 | KCNT1 | c.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=) | |
9 | g.135775359del | CA860991838 | KCNT1 | c.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 |
9 | g.135775359A= | CA1883884840 | KCNT1 | c.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=) | |
9 | g.135775359A>C | CA375512262 | KCNT1 | c.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 |
9 | g.135775359A>G | CA375512264 | KCNT1 | c.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 |
9 | g.135775359A>T | CA375512266 | KCNT1 | c.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) | |
9 | g.135775360C>A | CA375512268 | KCNT1 | c.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) | |
9 | g.135775360C>G | CA375512270 | KCNT1 | c.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) | |
9 | g.135775360C>T | CA375512272 | KCNT1 | c.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) | |
9 | g.135775361C>A | CA467698762 | KCNT1 | c.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 |
9 | g.135775361C= | CA1883884849 | KCNT1 | c.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=) | |
9 | g.135775361C>G | CA467698763 | KCNT1 | c.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=) | |
9 | g.135775361C>T | CA5327253 | KCNT1 | c.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 |
9 | g.135775362C>A | CA375512278 | KCNT1 | c.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) | |
9 | g.135775362C>G | CA375512277 | KCNT1 | c.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) | |
9 | g.135775362C>T | CA467698765 | KCNT1 | c.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 |
9 | g.135775363T>A | CA375512280 | KCNT1 | c.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) | |
9 | g.135775363T>C | CA375512288 | KCNT1 | c.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 |
9 | g.135775363T>G | CA375512290 | KCNT1 | c.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) | |
9 | g.135775363T= | CA1883884854 | KCNT1 | c.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=) | |
9 | g.135775364G>A | CA467698767 | KCNT1 | c.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=) | |
9 | g.135775364G>C | CA467698768 | KCNT1 | c.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=) | |
9 | g.135775364G>T | CA467698769 | KCNT1 | c.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=) | |
9 | g.135775364dup | CA2843074020 | KCNT1 | c.2298dup (p.Cys767ValfsTer25) c.2139dup (p.Cys714ValfsTer25) c.2046dup (p.Cys683ValfsTer25) c.2055dup (p.Cys686ValfsTer25) c.2199dup (p.Cys734ValfsTer25) c.*1908dup (n.*1908dup) c.2181dup (p.Cys728ValfsTer25) c.2241dup (p.Cys748ValfsTer25) c.2235dup (p.Cys746ValfsTer25) n.2117dup c.2163dup (p.Cys722ValfsTer25) c.2133dup (p.Cys712ValfsTer25) c.147dup (p.Cys50ValfsTer25) c.2433dup (p.Cys812ValfsTer25) c.2442dup (p.Cys815ValfsTer25) c.1788dup (p.Cys597ValfsTer25) c.2232dup (p.Cys745ValfsTer25) | |
9 | g.135775365T>A | CA375512292 | KCNT1 | c.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) | |
9 | g.135775365T>C | CA375512294 | KCNT1 | c.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) | |
9 | g.135775365T>G | CA375512296 | KCNT1 | c.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) | |
9 | g.135775366G>A | CA375512299 | KCNT1 | c.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) | |
9 | g.135775366G>C | CA375512301 | KCNT1 | c.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) | |
9 | g.135775366G>T | CA375512303 | KCNT1 | c.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 |
9 | g.135775367C>A | CA375512304 | KCNT1 | c.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) | |
9 | g.135775367C>G | CA375512306 | KCNT1 | c.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) | |
9 | g.135775367C>T | CA467698773 | KCNT1 | c.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 |
9 | g.135775368C>A | CA375512313 | KCNT1 | c.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) | |
9 | g.135775368C>G | CA375512310 | KCNT1 | c.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) | |
9 | g.135775368C>T | CA375512308 | KCNT1 | c.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 |
9 | g.135775369A= | CA1883884861 | KCNT1 | c.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=) | |
9 | g.135775369A>C | CA5327254 | KCNT1 | c.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 |
9 | g.135775369A>G | CA375512315 | KCNT1 | c.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 |
9 | g.135775369A>T | CA375512317 | KCNT1 | c.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) | |
9 | g.135775370C>A | CA375512321 | KCNT1 | c.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) | |
9 | g.135775370C>G | CA375512322 | KCNT1 | c.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) | |
9 | g.135775370C>T | CA467698778 | KCNT1 | c.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=) | |
9 | g.135775371C>A | CA375512325 | KCNT1 | c.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) | |
9 | g.135775371C= | CA1883884866 | KCNT1 | c.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=) | |
9 | g.135775371C>G | CA375512327 | KCNT1 | c.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 |
9 | g.135775371C>T | CA375512330 | KCNT1 | c.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 |
9 | g.135775372T>A | CA375512333 | KCNT1 | c.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 |
9 | g.135775372T>C | CA5327255 | KCNT1 | c.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 |
9 | g.135775372T>G | CA375512337 | KCNT1 | c.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) | |
9 | g.135775372T= | CA1883884870 | KCNT1 | c.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=) | |
9 | g.135775373C>A | CA467698782 | KCNT1 | c.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=) | |
9 | g.135775373C= | CA1883884891 | KCNT1 | c.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=) | |
9 | g.135775373C>G | CA467698783 | KCNT1 | c.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=) | |
9 | g.135775373C>T | CA467698784 | KCNT1 | c.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 |
9 | g.135775374C>A | CA375512339 | KCNT1 | c.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) | |
9 | g.135775374C= | CA1883884897 | KCNT1 | c.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=) | |
9 | g.135775374C>G | CA375512342 | KCNT1 | c.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) | |
9 | g.135775374C>T | CA467698785 | KCNT1 | c.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 |
9 | g.135775378_135775397dup | CA1883884896 | KCNT1 | c.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 |
9 | g.135775375T>A | CA375512347 | KCNT1 | c.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) | |
9 | g.135775375T>C | CA375512355 | KCNT1 | c.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) | |
9 | g.135775375T>G | CA375512345 | KCNT1 | c.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) | |
9 | g.135775375_135775385delinsTGCCTGTGAAA | CA1883884902 | KCNT1 | c.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=) | |
9 | g.135775376G>A | CA467698789 | KCNT1 | c.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=) | |
9 | g.135775376G>C | CA467698790 | KCNT1 | c.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=) | |
9 | g.135775376G>T | CA467698791 | KCNT1 | c.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=) | |
9 | g.135775379_135775388del | CA860991860 | KCNT1 | c.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 |
9 | g.135775377C>A | CA375512358 | KCNT1 | c.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) | |
9 | g.135775377C= | CA1883884909 | KCNT1 | c.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=) | |
9 | g.135775377C>G | CA375512362 | KCNT1 | c.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) | |
9 | g.135775377C>T | CA375512360 | KCNT1 | c.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 |
9 | g.135775378C>A | CA375512365 | KCNT1 | c.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) | |
9 | g.135775378C= | CA1883884913 | KCNT1 | c.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=) | |
9 | g.135775378C>G | CA375512367 | KCNT1 | c.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) | |
9 | g.135775378C>T | CA375512366 | KCNT1 | c.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 |
9 | g.135775379T>A | CA467698793 | KCNT1 | c.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=) | |
9 | g.135775379T>C | CA467698794 | KCNT1 | c.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=) | |
9 | g.135775379T>G | CA467698795 | KCNT1 | c.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=) | |
9 | g.135775381_135775382del | CA2579511270 | KCNT1 | c.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) | |
9 | g.135775380G>A | CA375512369 | KCNT1 | c.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 |
9 | g.135775380G>C | CA375512371 | KCNT1 | c.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) | |
9 | g.135775380G>T | CA375512375 | KCNT1 | c.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 |
9 | g.135775381T>A | CA375512377 | KCNT1 | c.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) | |
9 | g.135775381T>C | CA375512379 | KCNT1 | c.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) | |
9 | g.135775381T>G | CA375512381 | KCNT1 | c.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) | |
9 | g.135775382G>A | CA467698801 | KCNT1 | c.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=) | |
9 | g.135775382G>C | CA467698800 | KCNT1 | c.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=) | |
9 | g.135775382G>T | CA467698799 | KCNT1 | c.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=) | |
9 | g.135775383A>C | CA375512384 | KCNT1 | c.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) | |
9 | g.135775383A>G | CA375512386 | KCNT1 | c.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 |
9 | g.135775383A>T | CA375512392 | KCNT1 | c.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) | |
9 | g.135775384A= | CA1883884916 | KCNT1 | c.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=) | |
9 | g.135775384A>C | CA375512395 | KCNT1 | c.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) | |
9 | g.135775384A>G | CA375512396 | KCNT1 | c.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) | |
9 | g.135775384A>T | CA375512398 | KCNT1 | c.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) | |
9 | g.135775385A>C | CA375512404 | KCNT1 | c.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) | |
9 | g.135775385A>G | CA467698803 | KCNT1 | c.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=) | |
9 | g.135775385A>T | CA375512402 | KCNT1 | c.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) | |
9 | g.135775385_135775407dup | CA5327256 | KCNT1 | c.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 |
9 | g.135775386G>A | CA375512416 | KCNT1 | c.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) | |
9 | g.135775386G>C | CA375512429 | KCNT1 | c.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 |
9 | g.135775386G= | CA1883884926 | KCNT1 | c.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=) | |
9 | g.135775386G>T | CA375512430 | KCNT1 | c.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) | |
9 | g.135775387C>A | CA375512432 | KCNT1 | c.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 |
9 | g.135775387C= | CA1883884934 | KCNT1 | c.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=) | |
9 | g.135775387C>G | CA375512435 | KCNT1 | c.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) | |
9 | g.135775387C>T | CA5327257 | KCNT1 | c.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 |
9 | g.135775391dup | CA1883884932 | KCNT1 | c.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 |
9 | g.135775388C>A | CA467698805 | KCNT1 | c.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=) | |
9 | g.135775388C= | CA1883884940 | KCNT1 | c.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=) | |
9 | g.135775388C>G | CA467698806 | KCNT1 | c.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=) | |
9 | g.135775388C>T | CA467698807 | KCNT1 | c.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 |
9 | g.135775389C>A | CA375512436 | KCNT1 | c.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 |
9 | g.135775389C= | CA1883884945 | KCNT1 | c.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=) | |
9 | g.135775389C>G | CA5327258 | KCNT1 | c.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 |
9 | g.135775389C>T | CA375512438 | KCNT1 | c.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) | |
9 | g.135775390C>A | CA375512445 | KCNT1 | c.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) | |
9 | g.135775390C>G | CA375512443 | KCNT1 | c.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 |
9 | g.135775390C>T | CA375512440 | KCNT1 | c.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) | |
9 | g.135775391C>A | CA467698810 | KCNT1 | c.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 |
9 | g.135775391C>G | CA467698811 | KCNT1 | c.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 |
9 | g.135775391C>T | CA467698812 | KCNT1 | c.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=) | |
9 | g.135775392T>A | CA375512449 | KCNT1 | c.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) | |
9 | g.135775392T>C | CA375512455 | KCNT1 | c.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) | |
9 | g.135775392T>G | CA375512461 | KCNT1 | c.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) | |
9 | g.135775393T>A | CA375512468 | KCNT1 | c.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) | |
9 | g.135775393T>C | CA375512471 | KCNT1 | c.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 |
9 | g.135775393T>G | CA375512473 | KCNT1 | c.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) | |
9 | g.135775393T= | CA1883884954 | KCNT1 | c.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=) | |
9 | g.135775393_135775396delinsTCTG | CA1883884955 | KCNT1 | c.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=) | |
9 | g.135775394C>A | CA375512476 | KCNT1 | c.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) | |
9 | g.135775394C= | CA1883884960 | KCNT1 | c.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=) | |
9 | g.135775394C>G | CA375512477 | KCNT1 | c.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) | |
9 | g.135775394C>T | CA467698816 | KCNT1 | c.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 |
9 | g.135775398_135775400del | CA591147001 | KCNT1 | c.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 |
9 | g.135775395T>A | CA375512480 | KCNT1 | c.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) | |
9 | g.135775395T>C | CA375512481 | KCNT1 | c.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) | |
9 | g.135775395T>G | CA375512486 | KCNT1 | c.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) | |
9 | g.135775395_135775405delinsTGCTGCCTGCG | CA1883884964 | KCNT1 | c.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=) | |
9 | g.135775396G>A | CA375512496 | KCNT1 | c.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) | |
9 | g.135775396G>C | CA375512494 | KCNT1 | c.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 |
9 | g.135775396G>T | CA375512488 | KCNT1 | c.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) | |
9 | g.135775400_135775409del | CA860991895 | KCNT1 | c.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 |
9 | g.135775397C>A | CA375512498 | KCNT1 | c.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) | |
9 | g.135775397C= | CA1883884969 | KCNT1 | c.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=) | |
9 | g.135775397C>G | CA375512500 | KCNT1 | c.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) | |
9 | g.135775397C>T | CA467698817 | KCNT1 | c.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 |
9 | g.135775398T>A | CA375512508 | KCNT1 | c.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) | |
9 | g.135775398T>C | CA375512510 | KCNT1 | c.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) | |
9 | g.135775398T>G | CA375512512 | KCNT1 | c.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) | |
9 | g.135775399G>A | CA375512515 | KCNT1 | c.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 |
9 | g.135775399G>C | CA375512517 | KCNT1 | c.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) | |
9 | g.135775399G= | CA1883884972 | KCNT1 | c.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=) | |
9 | g.135775399G>T | CA375512521 | KCNT1 | c.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) | |
9 | g.135775400C>A | CA375512524 | KCNT1 | c.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) | |
9 | g.135775400C>G | CA375512529 | KCNT1 | c.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) | |
9 | g.135775400C>T | CA467698820 | KCNT1 | c.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 |
9 | g.135775401C>A | CA375512532 | KCNT1 | c.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 |
9 | g.135775401C= | CA1883884974 | KCNT1 | c.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=) | |
9 | g.135775401C>G | CA375512535 | KCNT1 | c.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) | |
9 | g.135775401C>T | CA467698821 | KCNT1 | c.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 |
9 | g.135775402T>A | CA375512537 | KCNT1 | c.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) | |
9 | g.135775402T>C | CA375512538 | KCNT1 | c.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) | |
9 | g.135775402T>G | CA375512536 | KCNT1 | c.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) | |
9 | g.135775403G>A | CA5327259 | KCNT1 | c.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 |
9 | g.135775403G>C | CA467698825 | KCNT1 | c.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=) | |
9 | g.135775403G= | CA1883884985 | KCNT1 | c.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=) | |
9 | g.135775403G>T | CA467698826 | KCNT1 | c.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 |
9 | g.135775404C>A | CA467698827 | KCNT1 | c.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 |
9 | g.135775404C= | CA1883884987 | KCNT1 | c.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=) | |
9 | g.135775404C>G | CA375512541 | KCNT1 | c.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) | |
9 | g.135775404C>T | CA375512543 | KCNT1 | c.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 |
9 | g.135775405G>A | CA5327260 | KCNT1 | c.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 |
9 | g.135775405G>C | CA375512547 | KCNT1 | c.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) | |
9 | g.135775405G= | CA1883884995 | KCNT1 | c.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=) | |
9 | g.135775405G>T | CA375512550 | KCNT1 | c.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) | |
9 | g.135775406G>A | CA467698829 | KCNT1 | c.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 |
9 | g.135775406G>C | CA467698831 | KCNT1 | c.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=) | |
9 | g.135775406G= | CA1883885005 | KCNT1 | c.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=) | |
9 | g.135775406G>T | CA467698833 | KCNT1 | c.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=) |