Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45092670A>G | CA2816489485 | KCNS1 | c.*2200T>C (n.*2200T>C) | |
20 | g.45092671T>C | CA2816489486 | KCNS1 | c.*2199A>G (n.*2199A>G) | |
20 | g.45092672C= | CA2366061427 | KCNS1 | c.*2198G= (n.*2198G=) | |
20 | g.45092672C>G | CA2366061428 | KCNS1 | c.*2198G>C (n.*2198G>C) | dbSNP |
20 | g.45092674G>A | CA2653024099 | KCNS1 | c.*2196C>T (n.*2196C>T) | gnomAD v4 |
20 | g.45092674G>T | CA2653024100 | KCNS1 | c.*2196C>A (n.*2196C>A) | gnomAD v4 |
20 | g.45092675G>A | CA2366061430 | KCNS1 | c.*2195C>T (n.*2195C>T) | dbSNP |
20 | g.45092675G= | CA2366061429 | KCNS1 | c.*2195C= (n.*2195C=) | |
20 | g.45092676A>G | CA2653024101 | KCNS1 | c.*2194T>C (n.*2194T>C) | gnomAD v4 |
20 | g.45092677G>A | CA2653024102 | KCNS1 | c.*2193C>T (n.*2193C>T) | gnomAD v4 |
20 | g.45092677G>C | CA2653024103 | KCNS1 | c.*2193C>G (n.*2193C>G) | gnomAD v4 |
20 | g.45092677G>T | CA2653024104 | KCNS1 | c.*2193C>A (n.*2193C>A) | gnomAD v4 |
20 | g.45092678A>G | CA2653024105 | KCNS1 | c.*2192T>C (n.*2192T>C) | gnomAD v4 |
20 | g.45092679C>A | CA2653024106 | KCNS1 | c.*2191G>T (n.*2191G>T) | gnomAD v4 |
20 | g.45092682A= | CA2366061431 | KCNS1 | c.*2188T= (n.*2188T=) | |
20 | g.45092682A>G | CA744795614 | KCNS1 | c.*2188T>C (n.*2188T>C) | dbSNP gnomAD v4 |
20 | g.45092683G>A | CA315503298 | KCNS1 | c.*2187C>T (n.*2187C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092683G= | CA2366061432 | KCNS1 | c.*2187C= (n.*2187C=) | |
20 | g.45092684A= | CA2366061434 | KCNS1 | c.*2186T= (n.*2186T=) | |
20 | g.45092684A>G | CA2366061433 | KCNS1 | c.*2186T>C (n.*2186T>C) | dbSNP |
20 | g.45092687C= | CA2366061435 | KCNS1 | c.*2183G= (n.*2183G=) | |
20 | g.45092687C>G | CA315503299 | KCNS1 | c.*2183G>C (n.*2183G>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092688C>A | CA2653024107 | KCNS1 | c.*2182G>T (n.*2182G>T) | gnomAD v4 |
20 | g.45092690T>C | CA1017880491 | KCNS1 | c.*2180A>G (n.*2180A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092690T= | CA2366061436 | KCNS1 | c.*2180A= (n.*2180A=) | |
20 | g.45092691G>T | CA2653024108 | KCNS1 | c.*2179C>A (n.*2179C>A) | gnomAD v4 |
20 | g.45092692C>A | CA2366061438 | KCNS1 | c.*2178G>T (n.*2178G>T) | dbSNP gnomAD v4 |
20 | g.45092692C= | CA2366061437 | KCNS1 | c.*2178G= (n.*2178G=) | |
20 | g.45092692C>G | CA744795620 | KCNS1 | c.*2178G>C (n.*2178G>C) | dbSNP |
20 | g.45092692C>T | CA315503302 | KCNS1 | c.*2178G>A (n.*2178G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092693G>A | CA315503306 | KCNS1 | c.*2177C>T (n.*2177C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092693G= | CA2366061439 | KCNS1 | c.*2177C= (n.*2177C=) | |
20 | g.45092693G>T | CA2366061440 | KCNS1 | c.*2177C>A (n.*2177C>A) | dbSNP |
20 | g.45092694T>C | CA2653024109 | KCNS1 | c.*2176A>G (n.*2176A>G) | gnomAD v4 |
20 | g.45092700_45092715del | CA2838531076 | KCNS1 | c.*2161_*2176del (n.*2161_*2176del) | |
20 | g.45092695A= | CA2366061441 | KCNS1 | c.*2175T= (n.*2175T=) | |
20 | g.45092695A>C | CA315503313 | KCNS1 | c.*2175T>G (n.*2175T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092695A>G | CA2816489487 | KCNS1 | c.*2175T>C (n.*2175T>C) | |
20 | g.45092697G>A | CA2653024110 | KCNS1 | c.*2173C>T (n.*2173C>T) | gnomAD v4 |
20 | g.45092698T>C | CA1017880503 | KCNS1 | c.*2172A>G (n.*2172A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092698T>G | CA1017880507 | KCNS1 | c.*2172A>C (n.*2172A>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092698T= | CA2366061442 | KCNS1 | c.*2172A= (n.*2172A=) | |
20 | g.45092699A= | CA2366061443 | KCNS1 | c.*2171T= (n.*2171T=) | |
20 | g.45092699A>G | CA315503315 | KCNS1 | c.*2171T>C (n.*2171T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092700G>T | CA2653024112 | KCNS1 | c.*2170C>A (n.*2170C>A) | gnomAD v4 |
20 | g.45092704del | CA2653024111 | KCNS1 | c.*2170del (n.*2170del) | gnomAD v4 |
20 | g.45092701G>A | CA315503337 | KCNS1 | c.*2169C>T (n.*2169C>T) | dbSNP |
20 | g.45092701G= | CA2366061445 | KCNS1 | c.*2169C= (n.*2169C=) | |
20 | g.45092701G>T | CA2366061444 | KCNS1 | c.*2169C>A (n.*2169C>A) | dbSNP |
20 | g.45092702G>T | CA2653024113 | KCNS1 | c.*2168C>A (n.*2168C>A) | gnomAD v4 |
20 | g.45092704G>A | CA2653024114 | KCNS1 | c.*2166C>T (n.*2166C>T) | gnomAD v4 |
20 | g.45092705C>G | CA2653024115 | KCNS1 | c.*2165G>C (n.*2165G>C) | gnomAD v4 |
20 | g.45092705C>T | CA2653024116 | KCNS1 | c.*2165G>A (n.*2165G>A) | gnomAD v4 |
20 | g.45092707C>A | CA2653024117 | KCNS1 | c.*2163G>T (n.*2163G>T) | gnomAD v4 |
20 | g.45092707C>T | CA2816489488 | KCNS1 | c.*2163G>A (n.*2163G>A) | |
20 | g.45092708A= | CA2366061446 | KCNS1 | c.*2162T= (n.*2162T=) | |
20 | g.45092708A>C | CA2366061447 | KCNS1 | c.*2162T>G (n.*2162T>G) | dbSNP |
20 | g.45092709del | CA2842801596 | KCNS1 | c.*2161del (n.*2161del) | |
20 | g.45092711A>G | CA2653024118 | KCNS1 | c.*2159T>C (n.*2159T>C) | gnomAD v4 |
20 | g.45092712T>A | CA1017880513 | KCNS1 | c.*2158A>T (n.*2158A>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092712T>C | CA1017880515 | KCNS1 | c.*2158A>G (n.*2158A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092712T= | CA2366061448 | KCNS1 | c.*2158A= (n.*2158A=) | |
20 | g.45092713G>A | CA2653024119 | KCNS1 | c.*2157C>T (n.*2157C>T) | gnomAD v4 |
20 | g.45092713G>T | CA2653024120 | KCNS1 | c.*2157C>A (n.*2157C>A) | gnomAD v4 |
20 | g.45092714T>C | CA2653024121 | KCNS1 | c.*2156A>G (n.*2156A>G) | gnomAD v4 |
20 | g.45092715A= | CA2366061449 | KCNS1 | c.*2155T= (n.*2155T=) | |
20 | g.45092715A>C | CA2580618838 | KCNS1 | c.*2155T>G (n.*2155T>G) | |
20 | g.45092715A>G | CA315503340 | KCNS1 | c.*2155T>C (n.*2155T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092715A>T | CA2580618837 | KCNS1 | c.*2155T>A (n.*2155T>A) | |
20 | g.45092716C= | CA2366061450 | KCNS1 | c.*2154G= (n.*2154G=) | |
20 | g.45092716C>G | CA635996441 | KCNS1 | c.*2154G>C (n.*2154G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092717T>A | CA2653024122 | KCNS1 | c.*2153A>T (n.*2153A>T) | gnomAD v4 |
20 | g.45092717T>C | CA1017880533 | KCNS1 | c.*2153A>G (n.*2153A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092717T= | CA2366061451 | KCNS1 | c.*2153A= (n.*2153A=) | |
20 | g.45092718A>G | CA2653024123 | KCNS1 | c.*2152T>C (n.*2152T>C) | gnomAD v4 |
20 | g.45092718A>T | CA2653024124 | KCNS1 | c.*2152T>A (n.*2152T>A) | gnomAD v4 |
20 | g.45092720G>T | CA2653024125 | KCNS1 | c.*2150C>A (n.*2150C>A) | gnomAD v4 |
20 | g.45092723C>A | CA2653024126 | KCNS1 | c.*2147G>T (n.*2147G>T) | gnomAD v4 |
20 | g.45092724T>A | CA2842801597 | KCNS1 | c.*2146A>T (n.*2146A>T) | |
20 | g.45092724T>C | CA2653024127 | KCNS1 | c.*2146A>G (n.*2146A>G) | gnomAD v4 |
20 | g.45092724T>G | CA315503346 | KCNS1 | c.*2146A>C (n.*2146A>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092724T= | CA2366061452 | KCNS1 | c.*2146A= (n.*2146A=) | |
20 | g.45092725G>T | CA2653024128 | KCNS1 | c.*2145C>A (n.*2145C>A) | gnomAD v4 |
20 | g.45092728T>C | CA2653024129 | KCNS1 | c.*2142A>G (n.*2142A>G) | gnomAD v4 |
20 | g.45092731G>T | CA2653024130 | KCNS1 | c.*2139C>A (n.*2139C>A) | gnomAD v4 |
20 | g.45092733C>A | CA315503351 | KCNS1 | c.*2137G>T (n.*2137G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092733C= | CA2366061453 | KCNS1 | c.*2137G= (n.*2137G=) | |
20 | g.45092737C>A | CA2653024131 | KCNS1 | c.*2133G>T (n.*2133G>T) | gnomAD v4 |
20 | g.45092737C>T | CA2653024132 | KCNS1 | c.*2133G>A (n.*2133G>A) | gnomAD v4 |
20 | g.45092738A= | CA2366061454 | KCNS1 | c.*2132T= (n.*2132T=) | |
20 | g.45092738A>C | CA2653024133 | KCNS1 | c.*2132T>G (n.*2132T>G) | gnomAD v4 |
20 | g.45092738A>G | CA2366061455 | KCNS1 | c.*2132T>C (n.*2132T>C) | dbSNP |
20 | g.45092739C>A | CA1017880540 | KCNS1 | c.*2131G>T (n.*2131G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092739C= | CA2366061456 | KCNS1 | c.*2131G= (n.*2131G=) | |
20 | g.45092740C>A | CA2653024134 | KCNS1 | c.*2130G>T (n.*2130G>T) | gnomAD v4 |
20 | g.45092740C= | CA2366061457 | KCNS1 | c.*2130G= (n.*2130G=) | |
20 | g.45092740C>T | CA315503355 | KCNS1 | c.*2130G>A (n.*2130G>A) | dbSNP |
20 | g.45092741T>A | CA744795642 | KCNS1 | c.*2129A>T (n.*2129A>T) | dbSNP gnomAD v4 |
20 | g.45092741T= | CA2366061458 | KCNS1 | c.*2129A= (n.*2129A=) | |
20 | g.45092741_45092756delinsTTCACACATGCCATTC | CA2366061459 | KCNS1 | c.*2114_*2129delinsGAATGGCATGTGTGAA (n.*2114_*2129delinsGAATGGCATGTGTGAA) | |
20 | g.45092742T>A | CA2366061462 | KCNS1 | c.*2128A>T (n.*2128A>T) | dbSNP |
20 | g.45092742T>C | CA14848843 | KCNS1 | c.*2128A>G (n.*2128A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092742T>G | CA635996442 | KCNS1 | c.*2128A>C (n.*2128A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092742T= | CA2366061461 | KCNS1 | c.*2128A= (n.*2128A=) | |
20 | g.45092744_45092758del | CA2366061460 | KCNS1 | c.*2114_*2128del (n.*2114_*2128del) | dbSNP |
20 | g.45092743C>G | CA2593245340 | KCNS1 | c.*2127G>C (n.*2127G>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092745C>A | CA2653024135 | KCNS1 | c.*2125G>T (n.*2125G>T) | gnomAD v4 |
20 | g.45092745C= | CA2366061463 | KCNS1 | c.*2125G= (n.*2125G=) | |
20 | g.45092745C>T | CA1017880560 | KCNS1 | c.*2125G>A (n.*2125G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092746A= | CA2366061464 | KCNS1 | c.*2124T= (n.*2124T=) | |
20 | g.45092746A>G | CA315503363 | KCNS1 | c.*2124T>C (n.*2124T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092747C= | CA2366061465 | KCNS1 | c.*2123G= (n.*2123G=) | |
20 | g.45092747C>T | CA315503367 | KCNS1 | c.*2123G>A (n.*2123G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092749T>A | CA2653024136 | KCNS1 | c.*2121A>T (n.*2121A>T) | gnomAD v4 |
20 | g.45092750G>A | CA2653024137 | KCNS1 | c.*2120C>T (n.*2120C>T) | gnomAD v4 |
20 | g.45092750G>T | CA2653024138 | KCNS1 | c.*2120C>A (n.*2120C>A) | gnomAD v4 |
20 | g.45092751C>A | CA2653024139 | KCNS1 | c.*2119G>T (n.*2119G>T) | gnomAD v4 |
20 | g.45092752C>A | CA2653024140 | KCNS1 | c.*2118G>T (n.*2118G>T) | gnomAD v4 |
20 | g.45092752C>T | CA2653024141 | KCNS1 | c.*2118G>A (n.*2118G>A) | gnomAD v4 |
20 | g.45092753A>T | CA2816489489 | KCNS1 | c.*2117T>A (n.*2117T>A) | |
20 | g.45092754T>C | CA2366061467 | KCNS1 | c.*2116A>G (n.*2116A>G) | dbSNP gnomAD v4 |
20 | g.45092754T= | CA2366061466 | KCNS1 | c.*2116A= (n.*2116A=) | |
20 | g.45092756C>A | CA2653024142 | KCNS1 | c.*2114G>T (n.*2114G>T) | gnomAD v4 |
20 | g.45092756C>T | CA2653024143 | KCNS1 | c.*2114G>A (n.*2114G>A) | gnomAD v4 |
20 | g.45092757T>C | CA744795651 | KCNS1 | c.*2113A>G (n.*2113A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092757T= | CA2366061468 | KCNS1 | c.*2113A= (n.*2113A=) | |
20 | g.45092758C= | CA2366061469 | KCNS1 | c.*2112G= (n.*2112G=) | |
20 | g.45092758C>G | CA315503369 | KCNS1 | c.*2112G>C (n.*2112G>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092758C>T | CA2842801598 | KCNS1 | c.*2112G>A (n.*2112G>A) | |
20 | g.45092759T>C | CA315503375 | KCNS1 | c.*2111A>G (n.*2111A>G) | dbSNP gnomAD v2 |
20 | g.45092759T= | CA2366061470 | KCNS1 | c.*2111A= (n.*2111A=) | |
20 | g.45092760C>A | CA2653024144 | KCNS1 | c.*2110G>T (n.*2110G>T) | gnomAD v4 |
20 | g.45092762G>T | CA2653024145 | KCNS1 | c.*2108C>A (n.*2108C>A) | gnomAD v4 |
20 | g.45092766G>A | CA315503377 | KCNS1 | c.*2104C>T (n.*2104C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092766G= | CA2366061471 | KCNS1 | c.*2104C= (n.*2104C=) | |
20 | g.45092766G>T | CA2653024146 | KCNS1 | c.*2104C>A (n.*2104C>A) | gnomAD v4 |
20 | g.45092767G>T | CA2653024147 | KCNS1 | c.*2103C>A (n.*2103C>A) | gnomAD v4 |
20 | g.45092768A>G | CA2816489490 | KCNS1 | c.*2102T>C (n.*2102T>C) | |
20 | g.45092768A>T | CA2653024148 | KCNS1 | c.*2102T>A (n.*2102T>A) | gnomAD v4 |
20 | g.45092768_45092769insAAAATATATCCCTATACTCATGAAGCTTACCGAATAGTAGGGAAGAGAGACTCTAATGCCATTCTCTCTGCTTGGC | CA2831944791 | KCNS1 | c.*2101_*2102insGCCAAGCAGAGAGAATGGCATTAGAGTCTCTCTTCCCTACTATTCGGTAAGCTTCATGAGTATAGGGATATATTTT (n.*2101_*2102insGCCAAGCAGAGAGAATGGCATTAGAGTCTCTCTTCCCTACTATTCGGTAAGCTTCATGAGTATAGGGATATATTTT) | |
20 | g.45092769G>A | CA315503381 | KCNS1 | c.*2101C>T (n.*2101C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092769G>C | CA2816489491 | KCNS1 | c.*2101C>G (n.*2101C>G) | |
20 | g.45092769G= | CA2366061472 | KCNS1 | c.*2101C= (n.*2101C=) | |
20 | g.45092770T>C | CA744795658 | KCNS1 | c.*2100A>G (n.*2100A>G) | dbSNP gnomAD v4 |
20 | g.45092770T= | CA2366061473 | KCNS1 | c.*2100A= (n.*2100A=) |