| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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>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.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= | 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=) | |
| 20 | g.45092854T>C | CA2653024181 | KCNS1 | c.*2016A>G (n.*2016A>G) | gnomAD v4 |
| 20 | g.45092857C>A | CA2653024182 | KCNS1 | c.*2013G>T (n.*2013G>T) | gnomAD v4 |
| 20 | g.45092857C= | CA2366061504 | KCNS1 | c.*2013G= (n.*2013G=) | |
| 20 | g.45092857C>T | CA2366061505 | KCNS1 | c.*2013G>A (n.*2013G>A) | dbSNP |
| 20 | g.45092858A= | CA2366061506 | KCNS1 | c.*2012T= (n.*2012T=) | |
| 20 | g.45092858A>C | CA315503446 | KCNS1 | c.*2012T>G (n.*2012T>G) | dbSNP |
| 20 | g.45092859C>A | CA2653024183 | KCNS1 | c.*2011G>T (n.*2011G>T) | gnomAD v4 |
| 20 | g.45092861T>C | CA2653024184 | KCNS1 | c.*2009A>G (n.*2009A>G) | gnomAD v4 |
| 20 | g.45092861_45092874delinsTTCTCGGGCCATGG | CA2366061507 | KCNS1 | c.*1996_*2009delinsCCATGGCCCGAGAA (n.*1996_*2009delinsCCATGGCCCGAGAA) | |
| 20 | g.45092862T>A | CA2816489496 | KCNS1 | c.*2008A>T (n.*2008A>T) | |
| 20 | g.45092864_45092876del | CA744795688 | KCNS1 | c.*1996_*2008del (n.*1996_*2008del) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45092863C>A | CA2653024185 | KCNS1 | c.*2007G>T (n.*2007G>T) | gnomAD v4 |
| 20 | g.45092864T>A | CA2366061508 | KCNS1 | c.*2006A>T (n.*2006A>T) | dbSNP |
| 20 | g.45092864T= | CA2366061509 | KCNS1 | c.*2006A= (n.*2006A=) | |
| 20 | g.45092865C= | CA2366061510 | KCNS1 | c.*2005G= (n.*2005G=) | |
| 20 | g.45092865C>T | CA744795691 | KCNS1 | c.*2005G>A (n.*2005G>A) | dbSNP |
| 20 | g.45092866G>A | CA315503469 | KCNS1 | c.*2004C>T (n.*2004C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45092866G= | CA2366061511 | KCNS1 | c.*2004C= (n.*2004C=) | |
| 20 | g.45092866G>T | CA2816489497 | KCNS1 | c.*2004C>A (n.*2004C>A) | |
| 20 | g.45092867G>A | CA2653024186 | KCNS1 | c.*2003C>T (n.*2003C>T) | gnomAD v4 |
| 20 | g.45092868G>A | CA744795696 | KCNS1 | c.*2002C>T (n.*2002C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45092868G= | CA2366061512 | KCNS1 | c.*2002C= (n.*2002C=) | |
| 20 | g.45092868G>T | CA2816489498 | KCNS1 | c.*2002C>A (n.*2002C>A) | |
| 20 | g.45092869C>G | CA2653024187 | KCNS1 | c.*2001G>C (n.*2001G>C) | gnomAD v4 |
| 20 | g.45092870C>A | CA2653024188 | KCNS1 | c.*2000G>T (n.*2000G>T) | gnomAD v4 |
| 20 | g.45092870C= | CA2366061513 | KCNS1 | c.*2000G= (n.*2000G=) | |
| 20 | g.45092870C>G | CA2653024189 | KCNS1 | c.*2000G>C (n.*2000G>C) | gnomAD v4 |
| 20 | g.45092870C>T | CA1017880601 | KCNS1 | c.*2000G>A (n.*2000G>A) | dbSNP |
| 20 | g.45092871A= | CA2366061514 | KCNS1 | c.*1999T= (n.*1999T=) | |
| 20 | g.45092871A>G | CA1017880603 | KCNS1 | c.*1999T>C (n.*1999T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45092873G>T | CA2653024190 | KCNS1 | c.*1997C>A (n.*1997C>A) | gnomAD v4 |
| 20 | g.45092877C>A | CA2653024191 | KCNS1 | c.*1993G>T (n.*1993G>T) | gnomAD v4 |
| 20 | g.45092881_45092898del | CA2816489499 | KCNS1 | c.*1976_*1993del (n.*1976_*1993del) | |
| 20 | g.45092878C>A | CA2653024192 | KCNS1 | c.*1992G>T (n.*1992G>T) | gnomAD v4 |
| 20 | g.45092878C= | CA2366061515 | KCNS1 | c.*1992G= (n.*1992G=) | |
| 20 | g.45092878C>T | CA315503471 | KCNS1 | c.*1992G>A (n.*1992G>A) | dbSNP |
| 20 | g.45092879T>C | CA2653024193 | KCNS1 | c.*1991A>G (n.*1991A>G) | gnomAD v4 |
| 20 | g.45092879T>G | CA635996448 | KCNS1 | c.*1991A>C (n.*1991A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45092879T= | CA2366061516 | KCNS1 | c.*1991A= (n.*1991A=) | |
| 20 | g.45092886T>G | CA1017880607 | KCNS1 | c.*1984A>C (n.*1984A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45092886T= | CA2366061517 | KCNS1 | c.*1984A= (n.*1984A=) |