Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45092741_45092756delinsTTCACACATGCCATTC | CA2366061459 | KCNS1 | c.*2114_*2129delinsGAATGGCATGTGTGAA (n.*2114_*2129delinsGAATGGCATGTGTGAA) | |
20 | g.45092744_45092758del | CA2366061460 | KCNS1 | c.*2114_*2128del (n.*2114_*2128del) | dbSNP |
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=) | |
20 | g.45092771A>C | CA1017880576 | KCNS1 | c.*2099T>G (n.*2099T>G) | gnomAD v3 gnomAD v4 |
20 | g.45092772C>T | CA2816489492 | KCNS1 | c.*2098G>A (n.*2098G>A) | |
20 | g.45092773T>C | CA2653024149 | KCNS1 | c.*2097A>G (n.*2097A>G) | gnomAD v4 |
20 | g.45092773_45092774delinsTC | CA2366061474 | KCNS1 | c.*2096_*2097delinsGA (n.*2096_*2097delinsGA) | |
20 | g.45092774C>A | CA2653024151 | KCNS1 | c.*2096G>T (n.*2096G>T) | gnomAD v4 |
20 | g.45092774C= | CA2366061475 | KCNS1 | c.*2096G= (n.*2096G=) | |
20 | g.45092774C>G | CA2366061476 | KCNS1 | c.*2096G>C (n.*2096G>C) | dbSNP |
20 | g.45092774C>T | CA2593245341 | KCNS1 | c.*2096G>A (n.*2096G>A) | gnomAD v3 gnomAD v4 |
20 | g.45092779dup | CA2653024150 | KCNS1 | c.*2096dup (n.*2096dup) | gnomAD v4 |
20 | g.45092779del | CA744795661 | KCNS1 | c.*2096del (n.*2096del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092775C>A | CA2653024152 | KCNS1 | c.*2095G>T (n.*2095G>T) | gnomAD v4 |
20 | g.45092776C>A | CA1017880578 | KCNS1 | c.*2094G>T (n.*2094G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092776C= | CA2366061477 | KCNS1 | c.*2094G= (n.*2094G=) | |
20 | g.45092777C= | CA2366061478 | KCNS1 | c.*2093G= (n.*2093G=) | |
20 | g.45092777C>T | CA1017880579 | KCNS1 | c.*2093G>A (n.*2093G>A) | dbSNP |
20 | g.45092778C>A | CA14788773 | KCNS1 | c.*2092G>T (n.*2092G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092778C= | CA2366061479 | KCNS1 | c.*2092G= (n.*2092G=) | |
20 | g.45092778C>G | CA635996443 | KCNS1 | c.*2092G>C (n.*2092G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092778C>T | CA2580618839 | KCNS1 | c.*2092G>A (n.*2092G>A) | |
20 | g.45092779_45092780delinsCT | CA2366061480 | KCNS1 | c.*2090_*2091delinsAG (n.*2090_*2091delinsAG) | |
20 | g.45092780del | CA635996444 | KCNS1 | c.*2090del (n.*2090del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092781G>T | CA2653024153 | KCNS1 | c.*2089C>A (n.*2089C>A) | gnomAD v4 |
20 | g.45092782del | CA657643297 | KCNS1 | c.*2089del (n.*2089del) | COSMIC |
20 | g.45092782G= | CA2366061481 | KCNS1 | c.*2088C= (n.*2088C=) | |
20 | g.45092782G>T | CA2366061482 | KCNS1 | c.*2088C>A (n.*2088C>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092783A>C | CA2653024154 | KCNS1 | c.*2087T>G (n.*2087T>G) | gnomAD v4 |
20 | g.45092784A= | CA2366061483 | KCNS1 | c.*2086T= (n.*2086T=) | |
20 | g.45092784A>T | CA635996445 | KCNS1 | c.*2086T>A (n.*2086T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092785C>A | CA2653024155 | KCNS1 | c.*2085G>T (n.*2085G>T) | gnomAD v4 |
20 | g.45092786C>A | CA2816489493 | KCNS1 | c.*2084G>T (n.*2084G>T) | |
20 | g.45092786C= | CA2366061484 | KCNS1 | c.*2084G= (n.*2084G=) | |
20 | g.45092786C>G | CA635996446 | KCNS1 | c.*2084G>C (n.*2084G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092787T>C | CA2653024156 | KCNS1 | c.*2083A>G (n.*2083A>G) | gnomAD v4 |
20 | g.45092788C>A | CA744795674 | KCNS1 | c.*2082G>T (n.*2082G>T) | dbSNP |
20 | g.45092788C= | CA2366061485 | KCNS1 | c.*2082G= (n.*2082G=) | |
20 | g.45092788C>T | CA2366061486 | KCNS1 | c.*2082G>A (n.*2082G>A) | dbSNP |
20 | g.45092789A>C | CA635996447 | KCNS1 | c.*2081T>G (n.*2081T>G) | gnomAD v2 |
20 | g.45092793G>A | CA2539678859 | KCNS1 | c.*2077C>T (n.*2077C>T) | gnomAD v4 |
20 | g.45092793G>T | CA2653024157 | KCNS1 | c.*2077C>A (n.*2077C>A) | gnomAD v4 |
20 | g.45092794C>A | CA2653024158 | KCNS1 | c.*2076G>T (n.*2076G>T) | gnomAD v4 |
20 | g.45092795T>C | CA1017880582 | KCNS1 | c.*2075A>G (n.*2075A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092795T= | CA2366061487 | KCNS1 | c.*2075A= (n.*2075A=) | |
20 | g.45092796T>A | CA2653024159 | KCNS1 | c.*2074A>T (n.*2074A>T) | gnomAD v4 |
20 | g.45092797A>C | CA2842801599 | KCNS1 | c.*2073T>G (n.*2073T>G) | |
20 | g.45092797A>G | CA2653024160 | KCNS1 | c.*2073T>C (n.*2073T>C) | gnomAD v4 |
20 | g.45092798A>C | CA2653024161 | KCNS1 | c.*2072T>G (n.*2072T>G) | gnomAD v4 |
20 | g.45092799T>C | CA2653024162 | KCNS1 | c.*2071A>G (n.*2071A>G) | gnomAD v4 |
20 | g.45092801A>G | CA2816489494 | KCNS1 | c.*2069T>C (n.*2069T>C) | |
20 | g.45092802G>T | CA2653024163 | KCNS1 | c.*2068C>A (n.*2068C>A) | gnomAD v4 |
20 | g.45092803C= | CA2366061488 | KCNS1 | c.*2067G= (n.*2067G=) | |
20 | g.45092803C>G | CA315503389 | KCNS1 | c.*2067G>C (n.*2067G>C) | dbSNP |
20 | g.45092807T>G | CA744795676 | KCNS1 | c.*2063A>C (n.*2063A>C) | dbSNP |
20 | g.45092807T= | CA2366061489 | KCNS1 | c.*2063A= (n.*2063A=) | |
20 | g.45092811C>A | CA1017880585 | KCNS1 | c.*2059G>T (n.*2059G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092811C= | CA2366061490 | KCNS1 | c.*2059G= (n.*2059G=) | |
20 | g.45092812A= | CA2366061491 | KCNS1 | c.*2058T= (n.*2058T=) | |
20 | g.45092812A>G | CA2366061492 | KCNS1 | c.*2058T>C (n.*2058T>C) | dbSNP |
20 | g.45092814T>C | CA2653024164 | KCNS1 | c.*2056A>G (n.*2056A>G) | gnomAD v4 |
20 | g.45092817G>T | CA2653024165 | KCNS1 | c.*2053C>A (n.*2053C>A) | gnomAD v4 |
20 | g.45092820G>A | CA2653024166 | KCNS1 | c.*2050C>T (n.*2050C>T) | gnomAD v4 |
20 | g.45092820G>T | CA2531313306 | KCNS1 | c.*2050C>A (n.*2050C>A) | |
20 | g.45092821G>A | CA315503394 | KCNS1 | c.*2049C>T (n.*2049C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092821G>C | CA2653024167 | KCNS1 | c.*2049C>G (n.*2049C>G) | gnomAD v4 |
20 | g.45092821G= | CA2366061493 | KCNS1 | c.*2049C= (n.*2049C=) | |
20 | g.45092822C>A | CA2816489495 | KCNS1 | c.*2048G>T (n.*2048G>T) | |
20 | g.45092822C>T | CA2653024168 | KCNS1 | c.*2048G>A (n.*2048G>A) | gnomAD v4 |
20 | g.45092824G>A | CA2653024169 | KCNS1 | c.*2046C>T (n.*2046C>T) | gnomAD v4 |
20 | g.45092824G>T | CA2842801600 | KCNS1 | c.*2046C>A (n.*2046C>A) | |
20 | g.45092825G>A | CA744795682 | KCNS1 | c.*2045C>T (n.*2045C>T) | dbSNP |
20 | g.45092825G>C | CA2653024170 | KCNS1 | c.*2045C>G (n.*2045C>G) | gnomAD v4 |
20 | g.45092825G= | CA2366061494 | KCNS1 | c.*2045C= (n.*2045C=) | |
20 | g.45092825G>T | CA657643302 | KCNS1 | c.*2045C>A (n.*2045C>A) | gnomAD v4 COSMIC |
20 | g.45092829G>C | CA2653024171 | KCNS1 | c.*2041C>G (n.*2041C>G) | gnomAD v4 |
20 | g.45092829G>T | CA2653024172 | KCNS1 | c.*2041C>A (n.*2041C>A) | gnomAD v4 |
20 | g.45092830A>G | CA2653024173 | KCNS1 | c.*2040T>C (n.*2040T>C) | gnomAD v4 |
20 | g.45092833G>A | CA2653024174 | KCNS1 | c.*2037C>T (n.*2037C>T) | gnomAD v4 |
20 | g.45092833_45092855delinsGTCACTTGCTCAGGAAAGCCTTC | CA2366061495 | KCNS1 | c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC (n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC) | |
20 | g.45092840_45092861del | CA2366061496 | KCNS1 | c.*2015_*2036del (n.*2015_*2036del) | dbSNP |
20 | g.45092835C>A | CA2653024175 | KCNS1 | c.*2035G>T (n.*2035G>T) | gnomAD v4 |
20 | g.45092836A= | CA2366061497 | KCNS1 | c.*2034T= (n.*2034T=) | |
20 | g.45092836A>C | CA315503397 | KCNS1 | c.*2034T>G (n.*2034T>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092837C>A | CA2653024176 | KCNS1 | c.*2033G>T (n.*2033G>T) | gnomAD v4 |
20 | g.45092838T>C | CA2653024177 | KCNS1 | c.*2032A>G (n.*2032A>G) | gnomAD v4 |
20 | g.45092840G>A | CA2842801601 | KCNS1 | c.*2030C>T (n.*2030C>T) | |
20 | g.45092840G= | CA2366061498 | KCNS1 | c.*2030C= (n.*2030C=) | |
20 | g.45092840G>T | CA315503407 | KCNS1 | c.*2030C>A (n.*2030C>A) | dbSNP gnomAD v4 |
20 | g.45092844A>G | CA2653024178 | KCNS1 | c.*2026T>C (n.*2026T>C) | gnomAD v4 |
20 | g.45092846G>T | CA2653024179 | KCNS1 | c.*2024C>A (n.*2024C>A) | gnomAD v4 |
20 | g.45092849A= | CA2366061499 | KCNS1 | c.*2021T= (n.*2021T=) | |
20 | g.45092849A>G | CA2366061500 | KCNS1 | c.*2021T>C (n.*2021T>C) | dbSNP |
20 | g.45092850G>A | CA315503419 | KCNS1 | c.*2020C>T (n.*2020C>T) | dbSNP gnomAD v4 |
20 | g.45092850G= | CA2366061501 | KCNS1 | c.*2020C= (n.*2020C=) | |
20 | g.45092850G>T | CA2653024180 | KCNS1 | c.*2020C>A (n.*2020C>A) | gnomAD v4 |
20 | g.45092852C>A | CA2580618841 | KCNS1 | c.*2018G>T (n.*2018G>T) | gnomAD v4 |
20 | g.45092852C= | CA2366061502 | KCNS1 | c.*2018G= (n.*2018G=) | |
20 | g.45092852C>G | CA2580618840 | KCNS1 | c.*2018G>C (n.*2018G>C) | |
20 | g.45092852C>T | CA14775737 | KCNS1 | c.*2018G>A (n.*2018G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092853T>C | CA744795684 | KCNS1 | c.*2017A>G (n.*2017A>G) | dbSNP |
20 | g.45092853T= | CA2366061503 | KCNS1 | c.*2017A= (n.*2017A=) |