Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45092881_45092898del | CA2816489499 | KCNS1 | c.*1976_*1993del (n.*1976_*1993del) | |
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=) | |
20 | g.45092888A= | CA2366061518 | KCNS1 | c.*1982T= (n.*1982T=) | |
20 | g.45092888A>G | CA744795706 | KCNS1 | c.*1982T>C (n.*1982T>C) | dbSNP |
20 | g.45092890A= | CA2366061519 | KCNS1 | c.*1980T= (n.*1980T=) | |
20 | g.45092890A>G | CA315503476 | KCNS1 | c.*1980T>C (n.*1980T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092891C>A | CA2653024194 | KCNS1 | c.*1979G>T (n.*1979G>T) | gnomAD v4 |
20 | g.45092891C>T | CA2653024195 | KCNS1 | c.*1979G>A (n.*1979G>A) | gnomAD v4 |
20 | g.45092893C= | CA2366061520 | KCNS1 | c.*1977G= (n.*1977G=) | |
20 | g.45092893C>T | CA744795713 | KCNS1 | c.*1977G>A (n.*1977G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092894A= | CA2366061521 | KCNS1 | c.*1976T= (n.*1976T=) | |
20 | g.45092894A>T | CA2366061522 | KCNS1 | c.*1976T>A (n.*1976T>A) | dbSNP |
20 | g.45092896C= | CA2366061523 | KCNS1 | c.*1974G= (n.*1974G=) | |
20 | g.45092896C>T | CA1017880628 | KCNS1 | c.*1974G>A (n.*1974G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092897T>C | CA2653024196 | KCNS1 | c.*1973A>G (n.*1973A>G) | gnomAD v4 |
20 | g.45092898G>A | CA2653024197 | KCNS1 | c.*1972C>T (n.*1972C>T) | gnomAD v4 |
20 | g.45092898G>C | CA2366061525 | KCNS1 | c.*1972C>G (n.*1972C>G) | dbSNP |
20 | g.45092898G= | CA2366061524 | KCNS1 | c.*1972C= (n.*1972C=) | |
20 | g.45092901C>A | CA2653024198 | KCNS1 | c.*1969G>T (n.*1969G>T) | gnomAD v4 |
20 | g.45092901C>T | CA2842801602 | KCNS1 | c.*1969G>A (n.*1969G>A) | |
20 | g.45092906T>C | CA2366061527 | KCNS1 | c.*1964A>G (n.*1964A>G) | dbSNP |
20 | g.45092906T= | CA2366061526 | KCNS1 | c.*1964A= (n.*1964A=) | |
20 | g.45092909A= | CA2366061528 | KCNS1 | c.*1961T= (n.*1961T=) | |
20 | g.45092909A>C | CA2366061529 | KCNS1 | c.*1961T>G (n.*1961T>G) | dbSNP |
20 | g.45092910G>T | CA2653024199 | KCNS1 | c.*1960C>A (n.*1960C>A) | gnomAD v4 |
20 | g.45092913C>A | CA2366061531 | KCNS1 | c.*1957G>T (n.*1957G>T) | dbSNP |
20 | g.45092913C= | CA2366061530 | KCNS1 | c.*1957G= (n.*1957G=) | |
20 | g.45092913C>T | CA635996449 | KCNS1 | c.*1957G>A (n.*1957G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092914G>A | CA315503482 | KCNS1 | c.*1956C>T (n.*1956C>T) | dbSNP |
20 | g.45092914G= | CA2366061532 | KCNS1 | c.*1956C= (n.*1956C=) | |
20 | g.45092915C= | CA2366061533 | KCNS1 | c.*1955G= (n.*1955G=) | |
20 | g.45092915C>T | CA744795720 | KCNS1 | c.*1955G>A (n.*1955G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092923A= | CA2366061534 | KCNS1 | c.*1947T= (n.*1947T=) | |
20 | g.45092923A>G | CA2366061535 | KCNS1 | c.*1947T>C (n.*1947T>C) | dbSNP |
20 | g.45092925_45092926delinsGT | CA2366061536 | KCNS1 | c.*1944_*1945delinsAC (n.*1944_*1945delinsAC) | |
20 | g.45092926del | CA744795723 | KCNS1 | c.*1944del (n.*1944del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092931A= | CA2366061537 | KCNS1 | c.*1939T= (n.*1939T=) | |
20 | g.45092931A>G | CA2366061538 | KCNS1 | c.*1939T>C (n.*1939T>C) | dbSNP |
20 | g.45092931A>T | CA1017880638 | KCNS1 | c.*1939T>A (n.*1939T>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092932T>C | CA1017880640 | KCNS1 | c.*1938A>G (n.*1938A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092932T= | CA2366061539 | KCNS1 | c.*1938A= (n.*1938A=) | |
20 | g.45092935C>A | CA2653024200 | KCNS1 | c.*1935G>T (n.*1935G>T) | gnomAD v4 |
20 | g.45092938T>C | CA744795724 | KCNS1 | c.*1932A>G (n.*1932A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092938T= | CA2366061540 | KCNS1 | c.*1932A= (n.*1932A=) | |
20 | g.45092938_45092940delinsTAG | CA2366061541 | KCNS1 | c.*1930_*1932delinsCTA (n.*1930_*1932delinsCTA) | |
20 | g.45092939A= | CA2366061542 | KCNS1 | c.*1931T= (n.*1931T=) | |
20 | g.45092939A>G | CA2366061543 | KCNS1 | c.*1931T>C (n.*1931T>C) | dbSNP |
20 | g.45092941_45092942del | CA744795726 | KCNS1 | c.*1930_*1931del (n.*1930_*1931del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092940G>A | CA2816489500 | KCNS1 | c.*1930C>T (n.*1930C>T) | |
20 | g.45092940G>C | CA635996450 | KCNS1 | c.*1930C>G (n.*1930C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092940G= | CA2366061544 | KCNS1 | c.*1930C= (n.*1930C=) | |
20 | g.45092940G>T | CA2653024201 | KCNS1 | c.*1930C>A (n.*1930C>A) | gnomAD v4 |
20 | g.45092941A= | CA2366061545 | KCNS1 | c.*1929T= (n.*1929T=) | |
20 | g.45092941A>C | CA2366061546 | KCNS1 | c.*1929T>G (n.*1929T>G) | dbSNP |
20 | g.45092942G>A | CA744795728 | KCNS1 | c.*1928C>T (n.*1928C>T) | dbSNP gnomAD v2 |
20 | g.45092942G= | CA2366061547 | KCNS1 | c.*1928C= (n.*1928C=) | |
20 | g.45092946_45092949dup | CA315503487 | KCNS1 | c.*1924_*1927dup (n.*1924_*1927dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092944C>A | CA2653024202 | KCNS1 | c.*1926G>T (n.*1926G>T) | gnomAD v4 |
20 | g.45092945T>G | CA744795730 | KCNS1 | c.*1925A>C (n.*1925A>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092945T= | CA2366061548 | KCNS1 | c.*1925A= (n.*1925A=) | |
20 | g.45092946A= | CA2366061549 | KCNS1 | c.*1924T= (n.*1924T=) | |
20 | g.45092946A>G | CA744795735 | KCNS1 | c.*1924T>C (n.*1924T>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092947T>C | CA315503489 | KCNS1 | c.*1923A>G (n.*1923A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092947T= | CA2366061550 | KCNS1 | c.*1923A= (n.*1923A=) | |
20 | g.45092948C>A | CA2366061552 | KCNS1 | c.*1922G>T (n.*1922G>T) | dbSNP gnomAD v4 |
20 | g.45092948C= | CA2366061551 | KCNS1 | c.*1922G= (n.*1922G=) | |
20 | g.45092951C>T | CA2653024203 | KCNS1 | c.*1919G>A (n.*1919G>A) | gnomAD v4 |
20 | g.45092952C>A | CA635996451 | KCNS1 | c.*1918G>T (n.*1918G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092952C= | CA2366061553 | KCNS1 | c.*1918G= (n.*1918G=) | |
20 | g.45092952C>T | CA2653024204 | KCNS1 | c.*1918G>A (n.*1918G>A) | gnomAD v4 |
20 | g.45092953C>T | CA2653024205 | KCNS1 | c.*1917G>A (n.*1917G>A) | gnomAD v4 |
20 | g.45092954T>C | CA2653024206 | KCNS1 | c.*1916A>G (n.*1916A>G) | gnomAD v4 |
20 | g.45092955A= | CA2366061554 | KCNS1 | c.*1915T= (n.*1915T=) | |
20 | g.45092955A>C | CA1017880650 | KCNS1 | c.*1915T>G (n.*1915T>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092956C>A | CA2653024207 | KCNS1 | c.*1914G>T (n.*1914G>T) | gnomAD v4 |
20 | g.45092956C= | CA2366061555 | KCNS1 | c.*1914G= (n.*1914G=) | |
20 | g.45092956C>G | CA2366061556 | KCNS1 | c.*1914G>C (n.*1914G>C) | dbSNP |
20 | g.45092959G>T | CA2653024208 | KCNS1 | c.*1911C>A (n.*1911C>A) | gnomAD v4 |
20 | g.45092960T>C | CA2653024209 | KCNS1 | c.*1910A>G (n.*1910A>G) | gnomAD v4 |
20 | g.45092961C= | CA2366061557 | KCNS1 | c.*1909G= (n.*1909G=) | |
20 | g.45092961C>T | CA315503491 | KCNS1 | c.*1909G>A (n.*1909G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092962G>A | CA744795743 | KCNS1 | c.*1908C>T (n.*1908C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092962G= | CA2366061558 | KCNS1 | c.*1908C= (n.*1908C=) | |
20 | g.45092965A= | CA2366061559 | KCNS1 | c.*1905T= (n.*1905T=) | |
20 | g.45092965A>C | CA315503493 | KCNS1 | c.*1905T>G (n.*1905T>G) | dbSNP |
20 | g.45092967G>T | CA2653024210 | KCNS1 | c.*1903C>A (n.*1903C>A) | gnomAD v4 |
20 | g.45092968C>T | CA2653024211 | KCNS1 | c.*1902G>A (n.*1902G>A) | gnomAD v4 |
20 | g.45092969T>A | CA2366061561 | KCNS1 | c.*1901A>T (n.*1901A>T) | dbSNP |
20 | g.45092969T= | CA2366061560 | KCNS1 | c.*1901A= (n.*1901A=) | |
20 | g.45092978A= | CA2366061562 | KCNS1 | c.*1892T= (n.*1892T=) | |
20 | g.45092978A>T | CA2366061563 | KCNS1 | c.*1892T>A (n.*1892T>A) | dbSNP |
20 | g.45092979dup | CA315503496 | KCNS1 | c.*1891dup (n.*1891dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092981G>T | CA2653024212 | KCNS1 | c.*1889C>A (n.*1889C>A) | gnomAD v4 |
20 | g.45092982G>A | CA1017880659 | KCNS1 | c.*1888C>T (n.*1888C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092982G= | CA2366061564 | KCNS1 | c.*1888C= (n.*1888C=) | |
20 | g.45092982G>T | CA2653024213 | KCNS1 | c.*1888C>A (n.*1888C>A) | gnomAD v4 |
20 | g.45092983G>C | CA2366061566 | KCNS1 | c.*1887C>G (n.*1887C>G) | dbSNP |
20 | g.45092983G= | CA2366061565 | KCNS1 | c.*1887C= (n.*1887C=) | |
20 | g.45092986A>G | CA2830656052 | KCNS1 | c.*1884T>C (n.*1884T>C) |