Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406889_63407267delCA2739277253KCNQ2c.2053_2431del (p.Ala685TrpfsTer?)
c.1999_2377del (p.Ala667TrpfsTer?)
c.1396_1774del (p.Ala466TrpfsTer?)
c.1906_2284del (p.Ala636TrpfsTer?)
c.1567_1945del (p.Ala523TrpfsTer?)
c.1915_2293del (p.Ala639TrpfsTer?)
c.2023_2241+160del
c.1987_2205+160del
c.1945_2323del (p.Ala649TrpfsTer?)
c.1915_2133+160del
c.1679+6186_1680-6043del (n.1679+6186_1680-6043del)
c.2041_2419del (p.Ala681TrpfsTer?)
c.2107_2485del (p.Ala703TrpfsTer?)
c.2104_2482del (p.Ala702TrpfsTer?)
c.2077_2455del (p.Ala693TrpfsTer?)
c.2023_2401del (p.Ala675TrpfsTer?)
c.1996_2374del (p.Ala666TrpfsTer?)
c.1981_2359del (p.Ala661TrpfsTer?)
c.1588_1966del (p.Ala530TrpfsTer?)
c.2050_2428del (p.Ala684TrpfsTer?)
c.1987_2365del (p.Ala663TrpfsTer?)
c.1984_2362del (p.Ala662TrpfsTer?)
c.1942_2320del (p.Ala648TrpfsTer?)
c.1015_1393del (p.Ala339TrpfsTer?)
 ClinVar
20g.63407271_63407276dupCA2653806089KCNQ2c.2048_2053dup (p.Pro684_Ala685insGluPro)
c.1994_1999dup (p.Pro666_Ala667insGluPro)
c.1391_1396dup (p.Pro465_Ala466insGluPro)
c.1901_1906dup (p.Pro635_Ala636insGluPro)
c.1562_1567dup (p.Pro522_Ala523insGluPro)
c.1910_1915dup (p.Pro638_Ala639insGluPro)
c.2018_2023dup (p.Pro674_Ala675insGluPro)
c.1982_1987dup (p.Pro662_Ala663insGluPro)
c.1940_1945dup (p.Pro648_Ala649insGluPro)
c.1679+6181_1679+6186dup (n.1679+6181_1679+6186dup)
c.2036_2041dup (p.Pro680_Ala681insGluPro)
c.2102_2107dup (p.Pro702_Ala703insGluPro)
c.2099_2104dup (p.Pro701_Ala702insGluPro)
c.2072_2077dup (p.Pro692_Ala693insGluPro)
c.1991_1996dup (p.Pro665_Ala666insGluPro)
c.1976_1981dup (p.Pro660_Ala661insGluPro)
c.1583_1588dup (p.Pro529_Ala530insGluPro)
c.2045_2050dup (p.Pro683_Ala684insGluPro)
c.1979_1984dup (p.Pro661_Ala662insGluPro)
c.1937_1942dup (p.Pro647_Ala648insGluPro)
c.1010_1015dup (p.Pro338_Ala339insGluPro)
 gnomAD v4
20g.63407266G>ACA9958178KCNQ2c.2051C>T (p.Pro684Leu)
c.1997C>T (p.Pro666Leu)
c.1394C>T (p.Pro465Leu)
c.1904C>T (p.Pro635Leu)
c.1565C>T (p.Pro522Leu)
c.1913C>T (p.Pro638Leu)
c.2021C>T (p.Pro674Leu)
c.1985C>T (p.Pro662Leu)
c.1943C>T (p.Pro648Leu)
c.1679+6184C>T (n.1679+6184C>T)
c.2039C>T (p.Pro680Leu)
c.2105C>T (p.Pro702Leu)
c.2102C>T (p.Pro701Leu)
c.2075C>T (p.Pro692Leu)
c.1994C>T (p.Pro665Leu)
c.1979C>T (p.Pro660Leu)
c.1586C>T (p.Pro529Leu)
c.2048C>T (p.Pro683Leu)
c.1982C>T (p.Pro661Leu)
c.1940C>T (p.Pro647Leu)
c.1013C>T (p.Pro338Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407266G>CCA409639216KCNQ2c.2051C>G (p.Pro684Arg)
c.1997C>G (p.Pro666Arg)
c.1394C>G (p.Pro465Arg)
c.1904C>G (p.Pro635Arg)
c.1565C>G (p.Pro522Arg)
c.1913C>G (p.Pro638Arg)
c.2021C>G (p.Pro674Arg)
c.1985C>G (p.Pro662Arg)
c.1943C>G (p.Pro648Arg)
c.1679+6184C>G (n.1679+6184C>G)
c.2039C>G (p.Pro680Arg)
c.2105C>G (p.Pro702Arg)
c.2102C>G (p.Pro701Arg)
c.2075C>G (p.Pro692Arg)
c.1994C>G (p.Pro665Arg)
c.1979C>G (p.Pro660Arg)
c.1586C>G (p.Pro529Arg)
c.2048C>G (p.Pro683Arg)
c.1982C>G (p.Pro661Arg)
c.1940C>G (p.Pro647Arg)
c.1013C>G (p.Pro338Arg)
20g.63407266G=CA2374774518KCNQ2c.2051C= (p.Pro684=)
c.1997C= (p.Pro666=)
c.1394C= (p.Pro465=)
c.1904C= (p.Pro635=)
c.1565C= (p.Pro522=)
c.1913C= (p.Pro638=)
c.2021C= (p.Pro674=)
c.1985C= (p.Pro662=)
c.1943C= (p.Pro648=)
c.1679+6184C= (n.1679+6184C=)
c.2039C= (p.Pro680=)
c.2105C= (p.Pro702=)
c.2102C= (p.Pro701=)
c.2075C= (p.Pro692=)
c.1994C= (p.Pro665=)
c.1979C= (p.Pro660=)
c.1586C= (p.Pro529=)
c.2048C= (p.Pro683=)
c.1982C= (p.Pro661=)
c.1940C= (p.Pro647=)
c.1013C= (p.Pro338=)
20g.63407266G>TCA409639217KCNQ2c.2051C>A (p.Pro684Gln)
c.1997C>A (p.Pro666Gln)
c.1394C>A (p.Pro465Gln)
c.1904C>A (p.Pro635Gln)
c.1565C>A (p.Pro522Gln)
c.1913C>A (p.Pro638Gln)
c.2021C>A (p.Pro674Gln)
c.1985C>A (p.Pro662Gln)
c.1943C>A (p.Pro648Gln)
c.1679+6184C>A (n.1679+6184C>A)
c.2039C>A (p.Pro680Gln)
c.2105C>A (p.Pro702Gln)
c.2102C>A (p.Pro701Gln)
c.2075C>A (p.Pro692Gln)
c.1994C>A (p.Pro665Gln)
c.1979C>A (p.Pro660Gln)
c.1586C>A (p.Pro529Gln)
c.2048C>A (p.Pro683Gln)
c.1982C>A (p.Pro661Gln)
c.1940C>A (p.Pro647Gln)
c.1013C>A (p.Pro338Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407267G>ACA409639218KCNQ2c.2050C>T (p.Pro684Ser)
c.1996C>T (p.Pro666Ser)
c.1393C>T (p.Pro465Ser)
c.1903C>T (p.Pro635Ser)
c.1564C>T (p.Pro522Ser)
c.1912C>T (p.Pro638Ser)
c.2020C>T (p.Pro674Ser)
c.1984C>T (p.Pro662Ser)
c.1942C>T (p.Pro648Ser)
c.1679+6183C>T (n.1679+6183C>T)
c.2038C>T (p.Pro680Ser)
c.2104C>T (p.Pro702Ser)
c.2101C>T (p.Pro701Ser)
c.2074C>T (p.Pro692Ser)
c.1993C>T (p.Pro665Ser)
c.1978C>T (p.Pro660Ser)
c.1585C>T (p.Pro529Ser)
c.2047C>T (p.Pro683Ser)
c.1981C>T (p.Pro661Ser)
c.1939C>T (p.Pro647Ser)
c.1012C>T (p.Pro338Ser)
 gnomAD v4
20g.63407267G>CCA409639220KCNQ2c.2050C>G (p.Pro684Ala)
c.1996C>G (p.Pro666Ala)
c.1393C>G (p.Pro465Ala)
c.1903C>G (p.Pro635Ala)
c.1564C>G (p.Pro522Ala)
c.1912C>G (p.Pro638Ala)
c.2020C>G (p.Pro674Ala)
c.1984C>G (p.Pro662Ala)
c.1942C>G (p.Pro648Ala)
c.1679+6183C>G (n.1679+6183C>G)
c.2038C>G (p.Pro680Ala)
c.2104C>G (p.Pro702Ala)
c.2101C>G (p.Pro701Ala)
c.2074C>G (p.Pro692Ala)
c.1993C>G (p.Pro665Ala)
c.1978C>G (p.Pro660Ala)
c.1585C>G (p.Pro529Ala)
c.2047C>G (p.Pro683Ala)
c.1981C>G (p.Pro661Ala)
c.1939C>G (p.Pro647Ala)
c.1012C>G (p.Pro338Ala)
20g.63407267G>TCA409639219KCNQ2c.2050C>A (p.Pro684Thr)
c.1996C>A (p.Pro666Thr)
c.1393C>A (p.Pro465Thr)
c.1903C>A (p.Pro635Thr)
c.1564C>A (p.Pro522Thr)
c.1912C>A (p.Pro638Thr)
c.2020C>A (p.Pro674Thr)
c.1984C>A (p.Pro662Thr)
c.1942C>A (p.Pro648Thr)
c.1679+6183C>A (n.1679+6183C>A)
c.2038C>A (p.Pro680Thr)
c.2104C>A (p.Pro702Thr)
c.2101C>A (p.Pro701Thr)
c.2074C>A (p.Pro692Thr)
c.1993C>A (p.Pro665Thr)
c.1978C>A (p.Pro660Thr)
c.1585C>A (p.Pro529Thr)
c.2047C>A (p.Pro683Thr)
c.1981C>A (p.Pro661Thr)
c.1939C>A (p.Pro647Thr)
c.1012C>A (p.Pro338Thr)
 gnomAD v4
20g.63407268C>ACA409639221KCNQ2c.2049G>T (p.Glu683Asp)
c.1995G>T (p.Glu665Asp)
c.1392G>T (p.Glu464Asp)
c.1902G>T (p.Glu634Asp)
c.1563G>T (p.Glu521Asp)
c.1911G>T (p.Glu637Asp)
c.2019G>T (p.Glu673Asp)
c.1983G>T (p.Glu661Asp)
c.1941G>T (p.Glu647Asp)
c.1679+6182G>T (n.1679+6182G>T)
c.2037G>T (p.Glu679Asp)
c.2103G>T (p.Glu701Asp)
c.2100G>T (p.Glu700Asp)
c.2073G>T (p.Glu691Asp)
c.1992G>T (p.Glu664Asp)
c.1977G>T (p.Glu659Asp)
c.1584G>T (p.Glu528Asp)
c.2046G>T (p.Glu682Asp)
c.1980G>T (p.Glu660Asp)
c.1938G>T (p.Glu646Asp)
c.1011G>T (p.Glu337Asp)
20g.63407268C>GCA409639222KCNQ2c.2049G>C (p.Glu683Asp)
c.1995G>C (p.Glu665Asp)
c.1392G>C (p.Glu464Asp)
c.1902G>C (p.Glu634Asp)
c.1563G>C (p.Glu521Asp)
c.1911G>C (p.Glu637Asp)
c.2019G>C (p.Glu673Asp)
c.1983G>C (p.Glu661Asp)
c.1941G>C (p.Glu647Asp)
c.1679+6182G>C (n.1679+6182G>C)
c.2037G>C (p.Glu679Asp)
c.2103G>C (p.Glu701Asp)
c.2100G>C (p.Glu700Asp)
c.2073G>C (p.Glu691Asp)
c.1992G>C (p.Glu664Asp)
c.1977G>C (p.Glu659Asp)
c.1584G>C (p.Glu528Asp)
c.2046G>C (p.Glu682Asp)
c.1980G>C (p.Glu660Asp)
c.1938G>C (p.Glu646Asp)
c.1011G>C (p.Glu337Asp)
20g.63407268C>TCA511339537KCNQ2c.2049G>A (p.Glu683=)
c.1995G>A (p.Glu665=)
c.1392G>A (p.Glu464=)
c.1902G>A (p.Glu634=)
c.1563G>A (p.Glu521=)
c.1911G>A (p.Glu637=)
c.2019G>A (p.Glu673=)
c.1983G>A (p.Glu661=)
c.1941G>A (p.Glu647=)
c.1679+6182G>A (n.1679+6182G>A)
c.2037G>A (p.Glu679=)
c.2103G>A (p.Glu701=)
c.2100G>A (p.Glu700=)
c.2073G>A (p.Glu691=)
c.1992G>A (p.Glu664=)
c.1977G>A (p.Glu659=)
c.1584G>A (p.Glu528=)
c.2046G>A (p.Glu682=)
c.1980G>A (p.Glu660=)
c.1938G>A (p.Glu646=)
c.1011G>A (p.Glu337=)
20g.63407269T>ACA409639223KCNQ2c.2048A>T (p.Glu683Val)
c.1994A>T (p.Glu665Val)
c.1391A>T (p.Glu464Val)
c.1901A>T (p.Glu634Val)
c.1562A>T (p.Glu521Val)
c.1910A>T (p.Glu637Val)
c.2018A>T (p.Glu673Val)
c.1982A>T (p.Glu661Val)
c.1940A>T (p.Glu647Val)
c.1679+6181A>T (n.1679+6181A>T)
c.2036A>T (p.Glu679Val)
c.2102A>T (p.Glu701Val)
c.2099A>T (p.Glu700Val)
c.2072A>T (p.Glu691Val)
c.1991A>T (p.Glu664Val)
c.1976A>T (p.Glu659Val)
c.1583A>T (p.Glu528Val)
c.2045A>T (p.Glu682Val)
c.1979A>T (p.Glu660Val)
c.1937A>T (p.Glu646Val)
c.1010A>T (p.Glu337Val)
20g.63407269T>CCA409639224KCNQ2c.2048A>G (p.Glu683Gly)
c.1994A>G (p.Glu665Gly)
c.1391A>G (p.Glu464Gly)
c.1901A>G (p.Glu634Gly)
c.1562A>G (p.Glu521Gly)
c.1910A>G (p.Glu637Gly)
c.2018A>G (p.Glu673Gly)
c.1982A>G (p.Glu661Gly)
c.1940A>G (p.Glu647Gly)
c.1679+6181A>G (n.1679+6181A>G)
c.2036A>G (p.Glu679Gly)
c.2102A>G (p.Glu701Gly)
c.2099A>G (p.Glu700Gly)
c.2072A>G (p.Glu691Gly)
c.1991A>G (p.Glu664Gly)
c.1976A>G (p.Glu659Gly)
c.1583A>G (p.Glu528Gly)
c.2045A>G (p.Glu682Gly)
c.1979A>G (p.Glu660Gly)
c.1937A>G (p.Glu646Gly)
c.1010A>G (p.Glu337Gly)
 dbSNP
20g.63407269T>GCA409639225KCNQ2c.2048A>C (p.Glu683Ala)
c.1994A>C (p.Glu665Ala)
c.1391A>C (p.Glu464Ala)
c.1901A>C (p.Glu634Ala)
c.1562A>C (p.Glu521Ala)
c.1910A>C (p.Glu637Ala)
c.2018A>C (p.Glu673Ala)
c.1982A>C (p.Glu661Ala)
c.1940A>C (p.Glu647Ala)
c.1679+6181A>C (n.1679+6181A>C)
c.2036A>C (p.Glu679Ala)
c.2102A>C (p.Glu701Ala)
c.2099A>C (p.Glu700Ala)
c.2072A>C (p.Glu691Ala)
c.1991A>C (p.Glu664Ala)
c.1976A>C (p.Glu659Ala)
c.1583A>C (p.Glu528Ala)
c.2045A>C (p.Glu682Ala)
c.1979A>C (p.Glu660Ala)
c.1937A>C (p.Glu646Ala)
c.1010A>C (p.Glu337Ala)
20g.63407269T=CA2374774519KCNQ2c.2048A= (p.Glu683=)
c.1994A= (p.Glu665=)
c.1391A= (p.Glu464=)
c.1901A= (p.Glu634=)
c.1562A= (p.Glu521=)
c.1910A= (p.Glu637=)
c.2018A= (p.Glu673=)
c.1982A= (p.Glu661=)
c.1940A= (p.Glu647=)
c.1679+6181A= (n.1679+6181A=)
c.2036A= (p.Glu679=)
c.2102A= (p.Glu701=)
c.2099A= (p.Glu700=)
c.2072A= (p.Glu691=)
c.1991A= (p.Glu664=)
c.1976A= (p.Glu659=)
c.1583A= (p.Glu528=)
c.2045A= (p.Glu682=)
c.1979A= (p.Glu660=)
c.1937A= (p.Glu646=)
c.1010A= (p.Glu337=)
20g.63407270C>ACA409639226KCNQ2c.2047G>T (p.Glu683Ter)
c.1993G>T (p.Glu665Ter)
c.1390G>T (p.Glu464Ter)
c.1900G>T (p.Glu634Ter)
c.1561G>T (p.Glu521Ter)
c.1909G>T (p.Glu637Ter)
c.2017G>T (p.Glu673Ter)
c.1981G>T (p.Glu661Ter)
c.1939G>T (p.Glu647Ter)
c.1679+6180G>T (n.1679+6180G>T)
c.2035G>T (p.Glu679Ter)
c.2101G>T (p.Glu701Ter)
c.2098G>T (p.Glu700Ter)
c.2071G>T (p.Glu691Ter)
c.1990G>T (p.Glu664Ter)
c.1975G>T (p.Glu659Ter)
c.1582G>T (p.Glu528Ter)
c.2044G>T (p.Glu682Ter)
c.1978G>T (p.Glu660Ter)
c.1936G>T (p.Glu646Ter)
c.1009G>T (p.Glu337Ter)
20g.63407270C>GCA409639227KCNQ2c.2047G>C (p.Glu683Gln)
c.1993G>C (p.Glu665Gln)
c.1390G>C (p.Glu464Gln)
c.1900G>C (p.Glu634Gln)
c.1561G>C (p.Glu521Gln)
c.1909G>C (p.Glu637Gln)
c.2017G>C (p.Glu673Gln)
c.1981G>C (p.Glu661Gln)
c.1939G>C (p.Glu647Gln)
c.1679+6180G>C (n.1679+6180G>C)
c.2035G>C (p.Glu679Gln)
c.2101G>C (p.Glu701Gln)
c.2098G>C (p.Glu700Gln)
c.2071G>C (p.Glu691Gln)
c.1990G>C (p.Glu664Gln)
c.1975G>C (p.Glu659Gln)
c.1582G>C (p.Glu528Gln)
c.2044G>C (p.Glu682Gln)
c.1978G>C (p.Glu660Gln)
c.1936G>C (p.Glu646Gln)
c.1009G>C (p.Glu337Gln)
20g.63407270C>TCA409639228KCNQ2c.2047G>A (p.Glu683Lys)
c.1993G>A (p.Glu665Lys)
c.1390G>A (p.Glu464Lys)
c.1900G>A (p.Glu634Lys)
c.1561G>A (p.Glu521Lys)
c.1909G>A (p.Glu637Lys)
c.2017G>A (p.Glu673Lys)
c.1981G>A (p.Glu661Lys)
c.1939G>A (p.Glu647Lys)
c.1679+6180G>A (n.1679+6180G>A)
c.2035G>A (p.Glu679Lys)
c.2101G>A (p.Glu701Lys)
c.2098G>A (p.Glu700Lys)
c.2071G>A (p.Glu691Lys)
c.1990G>A (p.Glu664Lys)
c.1975G>A (p.Glu659Lys)
c.1582G>A (p.Glu528Lys)
c.2044G>A (p.Glu682Lys)
c.1978G>A (p.Glu660Lys)
c.1936G>A (p.Glu646Lys)
c.1009G>A (p.Glu337Lys)
20g.63407271C>ACA511339538KCNQ2c.2046G>T (p.Pro682=)
c.1992G>T (p.Pro664=)
c.1389G>T (p.Pro463=)
c.1899G>T (p.Pro633=)
c.1560G>T (p.Pro520=)
c.1908G>T (p.Pro636=)
c.2016G>T (p.Pro672=)
c.1980G>T (p.Pro660=)
c.1938G>T (p.Pro646=)
c.1679+6179G>T (n.1679+6179G>T)
c.2034G>T (p.Pro678=)
c.2100G>T (p.Pro700=)
c.2097G>T (p.Pro699=)
c.2070G>T (p.Pro690=)
c.1989G>T (p.Pro663=)
c.1974G>T (p.Pro658=)
c.1581G>T (p.Pro527=)
c.2043G>T (p.Pro681=)
c.1977G>T (p.Pro659=)
c.1935G>T (p.Pro645=)
c.1008G>T (p.Pro336=)
20g.63407271C=CA2374774520KCNQ2c.2046G= (p.Pro682=)
c.1992G= (p.Pro664=)
c.1389G= (p.Pro463=)
c.1899G= (p.Pro633=)
c.1560G= (p.Pro520=)
c.1908G= (p.Pro636=)
c.2016G= (p.Pro672=)
c.1980G= (p.Pro660=)
c.1938G= (p.Pro646=)
c.1679+6179G= (n.1679+6179G=)
c.2034G= (p.Pro678=)
c.2100G= (p.Pro700=)
c.2097G= (p.Pro699=)
c.2070G= (p.Pro690=)
c.1989G= (p.Pro663=)
c.1974G= (p.Pro658=)
c.1581G= (p.Pro527=)
c.2043G= (p.Pro681=)
c.1977G= (p.Pro659=)
c.1935G= (p.Pro645=)
c.1008G= (p.Pro336=)
20g.63407271C>GCA511339539KCNQ2c.2046G>C (p.Pro682=)
c.1992G>C (p.Pro664=)
c.1389G>C (p.Pro463=)
c.1899G>C (p.Pro633=)
c.1560G>C (p.Pro520=)
c.1908G>C (p.Pro636=)
c.2016G>C (p.Pro672=)
c.1980G>C (p.Pro660=)
c.1938G>C (p.Pro646=)
c.1679+6179G>C (n.1679+6179G>C)
c.2034G>C (p.Pro678=)
c.2100G>C (p.Pro700=)
c.2097G>C (p.Pro699=)
c.2070G>C (p.Pro690=)
c.1989G>C (p.Pro663=)
c.1974G>C (p.Pro658=)
c.1581G>C (p.Pro527=)
c.2043G>C (p.Pro681=)
c.1977G>C (p.Pro659=)
c.1935G>C (p.Pro645=)
c.1008G>C (p.Pro336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407271C>TCA317422508KCNQ2c.2046G>A (p.Pro682=)
c.1992G>A (p.Pro664=)
c.1389G>A (p.Pro463=)
c.1899G>A (p.Pro633=)
c.1560G>A (p.Pro520=)
c.1908G>A (p.Pro636=)
c.2016G>A (p.Pro672=)
c.1980G>A (p.Pro660=)
c.1938G>A (p.Pro646=)
c.1679+6179G>A (n.1679+6179G>A)
c.2034G>A (p.Pro678=)
c.2100G>A (p.Pro700=)
c.2097G>A (p.Pro699=)
c.2070G>A (p.Pro690=)
c.1989G>A (p.Pro663=)
c.1974G>A (p.Pro658=)
c.1581G>A (p.Pro527=)
c.2043G>A (p.Pro681=)
c.1977G>A (p.Pro659=)
c.1935G>A (p.Pro645=)
c.1008G>A (p.Pro336=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407272G>ACA9958179KCNQ2c.2045C>T (p.Pro682Leu)
c.1991C>T (p.Pro664Leu)
c.1388C>T (p.Pro463Leu)
c.1898C>T (p.Pro633Leu)
c.1559C>T (p.Pro520Leu)
c.1907C>T (p.Pro636Leu)
c.2015C>T (p.Pro672Leu)
c.1979C>T (p.Pro660Leu)
c.1937C>T (p.Pro646Leu)
c.1679+6178C>T (n.1679+6178C>T)
c.2033C>T (p.Pro678Leu)
c.2099C>T (p.Pro700Leu)
c.2096C>T (p.Pro699Leu)
c.2069C>T (p.Pro690Leu)
c.1988C>T (p.Pro663Leu)
c.1973C>T (p.Pro658Leu)
c.1580C>T (p.Pro527Leu)
c.2042C>T (p.Pro681Leu)
c.1976C>T (p.Pro659Leu)
c.1934C>T (p.Pro645Leu)
c.1007C>T (p.Pro336Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407272G>CCA409639230KCNQ2c.2045C>G (p.Pro682Arg)
c.1991C>G (p.Pro664Arg)
c.1388C>G (p.Pro463Arg)
c.1898C>G (p.Pro633Arg)
c.1559C>G (p.Pro520Arg)
c.1907C>G (p.Pro636Arg)
c.2015C>G (p.Pro672Arg)
c.1979C>G (p.Pro660Arg)
c.1937C>G (p.Pro646Arg)
c.1679+6178C>G (n.1679+6178C>G)
c.2033C>G (p.Pro678Arg)
c.2099C>G (p.Pro700Arg)
c.2096C>G (p.Pro699Arg)
c.2069C>G (p.Pro690Arg)
c.1988C>G (p.Pro663Arg)
c.1973C>G (p.Pro658Arg)
c.1580C>G (p.Pro527Arg)
c.2042C>G (p.Pro681Arg)
c.1976C>G (p.Pro659Arg)
c.1934C>G (p.Pro645Arg)
c.1007C>G (p.Pro336Arg)
20g.63407272G=CA2374774521KCNQ2c.2045C= (p.Pro682=)
c.1991C= (p.Pro664=)
c.1388C= (p.Pro463=)
c.1898C= (p.Pro633=)
c.1559C= (p.Pro520=)
c.1907C= (p.Pro636=)
c.2015C= (p.Pro672=)
c.1979C= (p.Pro660=)
c.1937C= (p.Pro646=)
c.1679+6178C= (n.1679+6178C=)
c.2033C= (p.Pro678=)
c.2099C= (p.Pro700=)
c.2096C= (p.Pro699=)
c.2069C= (p.Pro690=)
c.1988C= (p.Pro663=)
c.1973C= (p.Pro658=)
c.1580C= (p.Pro527=)
c.2042C= (p.Pro681=)
c.1976C= (p.Pro659=)
c.1934C= (p.Pro645=)
c.1007C= (p.Pro336=)
20g.63407272G>TCA409639229KCNQ2c.2045C>A (p.Pro682Gln)
c.1991C>A (p.Pro664Gln)
c.1388C>A (p.Pro463Gln)
c.1898C>A (p.Pro633Gln)
c.1559C>A (p.Pro520Gln)
c.1907C>A (p.Pro636Gln)
c.2015C>A (p.Pro672Gln)
c.1979C>A (p.Pro660Gln)
c.1937C>A (p.Pro646Gln)
c.1679+6178C>A (n.1679+6178C>A)
c.2033C>A (p.Pro678Gln)
c.2099C>A (p.Pro700Gln)
c.2096C>A (p.Pro699Gln)
c.2069C>A (p.Pro690Gln)
c.1988C>A (p.Pro663Gln)
c.1973C>A (p.Pro658Gln)
c.1580C>A (p.Pro527Gln)
c.2042C>A (p.Pro681Gln)
c.1976C>A (p.Pro659Gln)
c.1934C>A (p.Pro645Gln)
c.1007C>A (p.Pro336Gln)
 gnomAD v4
20g.63407273G>ACA9958180KCNQ2c.2044C>T (p.Pro682Ser)
c.1990C>T (p.Pro664Ser)
c.1387C>T (p.Pro463Ser)
c.1897C>T (p.Pro633Ser)
c.1558C>T (p.Pro520Ser)
c.1906C>T (p.Pro636Ser)
c.2014C>T (p.Pro672Ser)
c.1978C>T (p.Pro660Ser)
c.1936C>T (p.Pro646Ser)
c.1679+6177C>T (n.1679+6177C>T)
c.2032C>T (p.Pro678Ser)
c.2098C>T (p.Pro700Ser)
c.2095C>T (p.Pro699Ser)
c.2068C>T (p.Pro690Ser)
c.1987C>T (p.Pro663Ser)
c.1972C>T (p.Pro658Ser)
c.1579C>T (p.Pro527Ser)
c.2041C>T (p.Pro681Ser)
c.1975C>T (p.Pro659Ser)
c.1933C>T (p.Pro645Ser)
c.1006C>T (p.Pro336Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407273G>CCA409639231KCNQ2c.2044C>G (p.Pro682Ala)
c.1990C>G (p.Pro664Ala)
c.1387C>G (p.Pro463Ala)
c.1897C>G (p.Pro633Ala)
c.1558C>G (p.Pro520Ala)
c.1906C>G (p.Pro636Ala)
c.2014C>G (p.Pro672Ala)
c.1978C>G (p.Pro660Ala)
c.1936C>G (p.Pro646Ala)
c.1679+6177C>G (n.1679+6177C>G)
c.2032C>G (p.Pro678Ala)
c.2098C>G (p.Pro700Ala)
c.2095C>G (p.Pro699Ala)
c.2068C>G (p.Pro690Ala)
c.1987C>G (p.Pro663Ala)
c.1972C>G (p.Pro658Ala)
c.1579C>G (p.Pro527Ala)
c.2041C>G (p.Pro681Ala)
c.1975C>G (p.Pro659Ala)
c.1933C>G (p.Pro645Ala)
c.1006C>G (p.Pro336Ala)
20g.63407273G=CA2374774522KCNQ2c.2044C= (p.Pro682=)
c.1990C= (p.Pro664=)
c.1387C= (p.Pro463=)
c.1897C= (p.Pro633=)
c.1558C= (p.Pro520=)
c.1906C= (p.Pro636=)
c.2014C= (p.Pro672=)
c.1978C= (p.Pro660=)
c.1936C= (p.Pro646=)
c.1679+6177C= (n.1679+6177C=)
c.2032C= (p.Pro678=)
c.2098C= (p.Pro700=)
c.2095C= (p.Pro699=)
c.2068C= (p.Pro690=)
c.1987C= (p.Pro663=)
c.1972C= (p.Pro658=)
c.1579C= (p.Pro527=)
c.2041C= (p.Pro681=)
c.1975C= (p.Pro659=)
c.1933C= (p.Pro645=)
c.1006C= (p.Pro336=)
20g.63407273G>TCA409639232KCNQ2c.2044C>A (p.Pro682Thr)
c.1990C>A (p.Pro664Thr)
c.1387C>A (p.Pro463Thr)
c.1897C>A (p.Pro633Thr)
c.1558C>A (p.Pro520Thr)
c.1906C>A (p.Pro636Thr)
c.2014C>A (p.Pro672Thr)
c.1978C>A (p.Pro660Thr)
c.1936C>A (p.Pro646Thr)
c.1679+6177C>A (n.1679+6177C>A)
c.2032C>A (p.Pro678Thr)
c.2098C>A (p.Pro700Thr)
c.2095C>A (p.Pro699Thr)
c.2068C>A (p.Pro690Thr)
c.1987C>A (p.Pro663Thr)
c.1972C>A (p.Pro658Thr)
c.1579C>A (p.Pro527Thr)
c.2041C>A (p.Pro681Thr)
c.1975C>A (p.Pro659Thr)
c.1933C>A (p.Pro645Thr)
c.1006C>A (p.Pro336Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.63407274C>ACA409639233KCNQ2c.2043G>T (p.Glu681Asp)
c.1989G>T (p.Glu663Asp)
c.1386G>T (p.Glu462Asp)
c.1896G>T (p.Glu632Asp)
c.1557G>T (p.Glu519Asp)
c.1905G>T (p.Glu635Asp)
c.2013G>T (p.Glu671Asp)
c.1977G>T (p.Glu659Asp)
c.1935G>T (p.Glu645Asp)
c.1679+6176G>T (n.1679+6176G>T)
c.2031G>T (p.Glu677Asp)
c.2097G>T (p.Glu699Asp)
c.2094G>T (p.Glu698Asp)
c.2067G>T (p.Glu689Asp)
c.1986G>T (p.Glu662Asp)
c.1971G>T (p.Glu657Asp)
c.1578G>T (p.Glu526Asp)
c.2040G>T (p.Glu680Asp)
c.1974G>T (p.Glu658Asp)
c.1932G>T (p.Glu644Asp)
c.1005G>T (p.Glu335Asp)
20g.63407274C>GCA409639234KCNQ2c.2043G>C (p.Glu681Asp)
c.1989G>C (p.Glu663Asp)
c.1386G>C (p.Glu462Asp)
c.1896G>C (p.Glu632Asp)
c.1557G>C (p.Glu519Asp)
c.1905G>C (p.Glu635Asp)
c.2013G>C (p.Glu671Asp)
c.1977G>C (p.Glu659Asp)
c.1935G>C (p.Glu645Asp)
c.1679+6176G>C (n.1679+6176G>C)
c.2031G>C (p.Glu677Asp)
c.2097G>C (p.Glu699Asp)
c.2094G>C (p.Glu698Asp)
c.2067G>C (p.Glu689Asp)
c.1986G>C (p.Glu662Asp)
c.1971G>C (p.Glu657Asp)
c.1578G>C (p.Glu526Asp)
c.2040G>C (p.Glu680Asp)
c.1974G>C (p.Glu658Asp)
c.1932G>C (p.Glu644Asp)
c.1005G>C (p.Glu335Asp)
20g.63407274C>TCA511339540KCNQ2c.2043G>A (p.Glu681=)
c.1989G>A (p.Glu663=)
c.1386G>A (p.Glu462=)
c.1896G>A (p.Glu632=)
c.1557G>A (p.Glu519=)
c.1905G>A (p.Glu635=)
c.2013G>A (p.Glu671=)
c.1977G>A (p.Glu659=)
c.1935G>A (p.Glu645=)
c.1679+6176G>A (n.1679+6176G>A)
c.2031G>A (p.Glu677=)
c.2097G>A (p.Glu699=)
c.2094G>A (p.Glu698=)
c.2067G>A (p.Glu689=)
c.1986G>A (p.Glu662=)
c.1971G>A (p.Glu657=)
c.1578G>A (p.Glu526=)
c.2040G>A (p.Glu680=)
c.1974G>A (p.Glu658=)
c.1932G>A (p.Glu644=)
c.1005G>A (p.Glu335=)
20g.63407275T>ACA409639236KCNQ2c.2042A>T (p.Glu681Val)
c.1988A>T (p.Glu663Val)
c.1385A>T (p.Glu462Val)
c.1895A>T (p.Glu632Val)
c.1556A>T (p.Glu519Val)
c.1904A>T (p.Glu635Val)
c.2012A>T (p.Glu671Val)
c.1976A>T (p.Glu659Val)
c.1934A>T (p.Glu645Val)
c.1679+6175A>T (n.1679+6175A>T)
c.2030A>T (p.Glu677Val)
c.2096A>T (p.Glu699Val)
c.2093A>T (p.Glu698Val)
c.2066A>T (p.Glu689Val)
c.1985A>T (p.Glu662Val)
c.1970A>T (p.Glu657Val)
c.1577A>T (p.Glu526Val)
c.2039A>T (p.Glu680Val)
c.1973A>T (p.Glu658Val)
c.1931A>T (p.Glu644Val)
c.1004A>T (p.Glu335Val)
20g.63407275T>CCA315513KCNQ2c.2042A>G (p.Glu681Gly)
c.1988A>G (p.Glu663Gly)
c.1385A>G (p.Glu462Gly)
c.1895A>G (p.Glu632Gly)
c.1556A>G (p.Glu519Gly)
c.1904A>G (p.Glu635Gly)
c.2012A>G (p.Glu671Gly)
c.1976A>G (p.Glu659Gly)
c.1934A>G (p.Glu645Gly)
c.1679+6175A>G (n.1679+6175A>G)
c.2030A>G (p.Glu677Gly)
c.2096A>G (p.Glu699Gly)
c.2093A>G (p.Glu698Gly)
c.2066A>G (p.Glu689Gly)
c.1985A>G (p.Glu662Gly)
c.1970A>G (p.Glu657Gly)
c.1577A>G (p.Glu526Gly)
c.2039A>G (p.Glu680Gly)
c.1973A>G (p.Glu658Gly)
c.1931A>G (p.Glu644Gly)
c.1004A>G (p.Glu335Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407275T>GCA409639235KCNQ2c.2042A>C (p.Glu681Ala)
c.1988A>C (p.Glu663Ala)
c.1385A>C (p.Glu462Ala)
c.1895A>C (p.Glu632Ala)
c.1556A>C (p.Glu519Ala)
c.1904A>C (p.Glu635Ala)
c.2012A>C (p.Glu671Ala)
c.1976A>C (p.Glu659Ala)
c.1934A>C (p.Glu645Ala)
c.1679+6175A>C (n.1679+6175A>C)
c.2030A>C (p.Glu677Ala)
c.2096A>C (p.Glu699Ala)
c.2093A>C (p.Glu698Ala)
c.2066A>C (p.Glu689Ala)
c.1985A>C (p.Glu662Ala)
c.1970A>C (p.Glu657Ala)
c.1577A>C (p.Glu526Ala)
c.2039A>C (p.Glu680Ala)
c.1973A>C (p.Glu658Ala)
c.1931A>C (p.Glu644Ala)
c.1004A>C (p.Glu335Ala)
20g.63407275T=CA2374774523KCNQ2c.2042A= (p.Glu681=)
c.1988A= (p.Glu663=)
c.1385A= (p.Glu462=)
c.1895A= (p.Glu632=)
c.1556A= (p.Glu519=)
c.1904A= (p.Glu635=)
c.2012A= (p.Glu671=)
c.1976A= (p.Glu659=)
c.1934A= (p.Glu645=)
c.1679+6175A= (n.1679+6175A=)
c.2030A= (p.Glu677=)
c.2096A= (p.Glu699=)
c.2093A= (p.Glu698=)
c.2066A= (p.Glu689=)
c.1985A= (p.Glu662=)
c.1970A= (p.Glu657=)
c.1577A= (p.Glu526=)
c.2039A= (p.Glu680=)
c.1973A= (p.Glu658=)
c.1931A= (p.Glu644=)
c.1004A= (p.Glu335=)
20g.63407276C>ACA409639237KCNQ2c.2041G>T (p.Glu681Ter)
c.1987G>T (p.Glu663Ter)
c.1384G>T (p.Glu462Ter)
c.1894G>T (p.Glu632Ter)
c.1555G>T (p.Glu519Ter)
c.1903G>T (p.Glu635Ter)
c.2011G>T (p.Glu671Ter)
c.1975G>T (p.Glu659Ter)
c.1933G>T (p.Glu645Ter)
c.1679+6174G>T (n.1679+6174G>T)
c.2029G>T (p.Glu677Ter)
c.2095G>T (p.Glu699Ter)
c.2092G>T (p.Glu698Ter)
c.2065G>T (p.Glu689Ter)
c.1984G>T (p.Glu662Ter)
c.1969G>T (p.Glu657Ter)
c.1576G>T (p.Glu526Ter)
c.2038G>T (p.Glu680Ter)
c.1972G>T (p.Glu658Ter)
c.1930G>T (p.Glu644Ter)
c.1003G>T (p.Glu335Ter)
 gnomAD v4
20g.63407276C>GCA409639238KCNQ2c.2041G>C (p.Glu681Gln)
c.1987G>C (p.Glu663Gln)
c.1384G>C (p.Glu462Gln)
c.1894G>C (p.Glu632Gln)
c.1555G>C (p.Glu519Gln)
c.1903G>C (p.Glu635Gln)
c.2011G>C (p.Glu671Gln)
c.1975G>C (p.Glu659Gln)
c.1933G>C (p.Glu645Gln)
c.1679+6174G>C (n.1679+6174G>C)
c.2029G>C (p.Glu677Gln)
c.2095G>C (p.Glu699Gln)
c.2092G>C (p.Glu698Gln)
c.2065G>C (p.Glu689Gln)
c.1984G>C (p.Glu662Gln)
c.1969G>C (p.Glu657Gln)
c.1576G>C (p.Glu526Gln)
c.2038G>C (p.Glu680Gln)
c.1972G>C (p.Glu658Gln)
c.1930G>C (p.Glu644Gln)
c.1003G>C (p.Glu335Gln)
20g.63407276C>TCA409639239KCNQ2c.2041G>A (p.Glu681Lys)
c.1987G>A (p.Glu663Lys)
c.1384G>A (p.Glu462Lys)
c.1894G>A (p.Glu632Lys)
c.1555G>A (p.Glu519Lys)
c.1903G>A (p.Glu635Lys)
c.2011G>A (p.Glu671Lys)
c.1975G>A (p.Glu659Lys)
c.1933G>A (p.Glu645Lys)
c.1679+6174G>A (n.1679+6174G>A)
c.2029G>A (p.Glu677Lys)
c.2095G>A (p.Glu699Lys)
c.2092G>A (p.Glu698Lys)
c.2065G>A (p.Glu689Lys)
c.1984G>A (p.Glu662Lys)
c.1969G>A (p.Glu657Lys)
c.1576G>A (p.Glu526Lys)
c.2038G>A (p.Glu680Lys)
c.1972G>A (p.Glu658Lys)
c.1930G>A (p.Glu644Lys)
c.1003G>A (p.Glu335Lys)
20g.63407277T>ACA409639240KCNQ2c.2040A>T (p.Lys680Asn)
c.1986A>T (p.Lys662Asn)
c.1383A>T (p.Lys461Asn)
c.1893A>T (p.Lys631Asn)
c.1554A>T (p.Lys518Asn)
c.1902A>T (p.Lys634Asn)
c.2010A>T (p.Lys670Asn)
c.1974A>T (p.Lys658Asn)
c.1932A>T (p.Lys644Asn)
c.1679+6173A>T (n.1679+6173A>T)
c.2028A>T (p.Lys676Asn)
c.2094A>T (p.Lys698Asn)
c.2091A>T (p.Lys697Asn)
c.2064A>T (p.Lys688Asn)
c.1983A>T (p.Lys661Asn)
c.1968A>T (p.Lys656Asn)
c.1575A>T (p.Lys525Asn)
c.2037A>T (p.Lys679Asn)
c.1971A>T (p.Lys657Asn)
c.1929A>T (p.Lys643Asn)
c.1002A>T (p.Lys334Asn)
20g.63407277T>CCA511339541KCNQ2c.2040A>G (p.Lys680=)
c.1986A>G (p.Lys662=)
c.1383A>G (p.Lys461=)
c.1893A>G (p.Lys631=)
c.1554A>G (p.Lys518=)
c.1902A>G (p.Lys634=)
c.2010A>G (p.Lys670=)
c.1974A>G (p.Lys658=)
c.1932A>G (p.Lys644=)
c.1679+6173A>G (n.1679+6173A>G)
c.2028A>G (p.Lys676=)
c.2094A>G (p.Lys698=)
c.2091A>G (p.Lys697=)
c.2064A>G (p.Lys688=)
c.1983A>G (p.Lys661=)
c.1968A>G (p.Lys656=)
c.1575A>G (p.Lys525=)
c.2037A>G (p.Lys679=)
c.1971A>G (p.Lys657=)
c.1929A>G (p.Lys643=)
c.1002A>G (p.Lys334=)
20g.63407277T>GCA409639241KCNQ2c.2040A>C (p.Lys680Asn)
c.1986A>C (p.Lys662Asn)
c.1383A>C (p.Lys461Asn)
c.1893A>C (p.Lys631Asn)
c.1554A>C (p.Lys518Asn)
c.1902A>C (p.Lys634Asn)
c.2010A>C (p.Lys670Asn)
c.1974A>C (p.Lys658Asn)
c.1932A>C (p.Lys644Asn)
c.1679+6173A>C (n.1679+6173A>C)
c.2028A>C (p.Lys676Asn)
c.2094A>C (p.Lys698Asn)
c.2091A>C (p.Lys697Asn)
c.2064A>C (p.Lys688Asn)
c.1983A>C (p.Lys661Asn)
c.1968A>C (p.Lys656Asn)
c.1575A>C (p.Lys525Asn)
c.2037A>C (p.Lys679Asn)
c.1971A>C (p.Lys657Asn)
c.1929A>C (p.Lys643Asn)
c.1002A>C (p.Lys334Asn)
20g.63407278T>ACA409639242KCNQ2c.2039A>T (p.Lys680Ile)
c.1985A>T (p.Lys662Ile)
c.1382A>T (p.Lys461Ile)
c.1892A>T (p.Lys631Ile)
c.1553A>T (p.Lys518Ile)
c.1901A>T (p.Lys634Ile)
c.2009A>T (p.Lys670Ile)
c.1973A>T (p.Lys658Ile)
c.1931A>T (p.Lys644Ile)
c.1679+6172A>T (n.1679+6172A>T)
c.2027A>T (p.Lys676Ile)
c.2093A>T (p.Lys698Ile)
c.2090A>T (p.Lys697Ile)
c.2063A>T (p.Lys688Ile)
c.1982A>T (p.Lys661Ile)
c.1967A>T (p.Lys656Ile)
c.1574A>T (p.Lys525Ile)
c.2036A>T (p.Lys679Ile)
c.1970A>T (p.Lys657Ile)
c.1928A>T (p.Lys643Ile)
c.1001A>T (p.Lys334Ile)
20g.63407278T>CCA409639244KCNQ2c.2039A>G (p.Lys680Arg)
c.1985A>G (p.Lys662Arg)
c.1382A>G (p.Lys461Arg)
c.1892A>G (p.Lys631Arg)
c.1553A>G (p.Lys518Arg)
c.1901A>G (p.Lys634Arg)
c.2009A>G (p.Lys670Arg)
c.1973A>G (p.Lys658Arg)
c.1931A>G (p.Lys644Arg)
c.1679+6172A>G (n.1679+6172A>G)
c.2027A>G (p.Lys676Arg)
c.2093A>G (p.Lys698Arg)
c.2090A>G (p.Lys697Arg)
c.2063A>G (p.Lys688Arg)
c.1982A>G (p.Lys661Arg)
c.1967A>G (p.Lys656Arg)
c.1574A>G (p.Lys525Arg)
c.2036A>G (p.Lys679Arg)
c.1970A>G (p.Lys657Arg)
c.1928A>G (p.Lys643Arg)
c.1001A>G (p.Lys334Arg)
20g.63407278T>GCA409639243KCNQ2c.2039A>C (p.Lys680Thr)
c.1985A>C (p.Lys662Thr)
c.1382A>C (p.Lys461Thr)
c.1892A>C (p.Lys631Thr)
c.1553A>C (p.Lys518Thr)
c.1901A>C (p.Lys634Thr)
c.2009A>C (p.Lys670Thr)
c.1973A>C (p.Lys658Thr)
c.1931A>C (p.Lys644Thr)
c.1679+6172A>C (n.1679+6172A>C)
c.2027A>C (p.Lys676Thr)
c.2093A>C (p.Lys698Thr)
c.2090A>C (p.Lys697Thr)
c.2063A>C (p.Lys688Thr)
c.1982A>C (p.Lys661Thr)
c.1967A>C (p.Lys656Thr)
c.1574A>C (p.Lys525Thr)
c.2036A>C (p.Lys679Thr)
c.1970A>C (p.Lys657Thr)
c.1928A>C (p.Lys643Thr)
c.1001A>C (p.Lys334Thr)
20g.63407279T>ACA409639245KCNQ2c.2038A>T (p.Lys680Ter)
c.1984A>T (p.Lys662Ter)
c.1381A>T (p.Lys461Ter)
c.1891A>T (p.Lys631Ter)
c.1552A>T (p.Lys518Ter)
c.1900A>T (p.Lys634Ter)
c.2008A>T (p.Lys670Ter)
c.1972A>T (p.Lys658Ter)
c.1930A>T (p.Lys644Ter)
c.1679+6171A>T (n.1679+6171A>T)
c.2026A>T (p.Lys676Ter)
c.2092A>T (p.Lys698Ter)
c.2089A>T (p.Lys697Ter)
c.2062A>T (p.Lys688Ter)
c.1981A>T (p.Lys661Ter)
c.1966A>T (p.Lys656Ter)
c.1573A>T (p.Lys525Ter)
c.2035A>T (p.Lys679Ter)
c.1969A>T (p.Lys657Ter)
c.1927A>T (p.Lys643Ter)
c.1000A>T (p.Lys334Ter)
20g.63407279T>CCA409639246KCNQ2c.2038A>G (p.Lys680Glu)
c.1984A>G (p.Lys662Glu)
c.1381A>G (p.Lys461Glu)
c.1891A>G (p.Lys631Glu)
c.1552A>G (p.Lys518Glu)
c.1900A>G (p.Lys634Glu)
c.2008A>G (p.Lys670Glu)
c.1972A>G (p.Lys658Glu)
c.1930A>G (p.Lys644Glu)
c.1679+6171A>G (n.1679+6171A>G)
c.2026A>G (p.Lys676Glu)
c.2092A>G (p.Lys698Glu)
c.2089A>G (p.Lys697Glu)
c.2062A>G (p.Lys688Glu)
c.1981A>G (p.Lys661Glu)
c.1966A>G (p.Lys656Glu)
c.1573A>G (p.Lys525Glu)
c.2035A>G (p.Lys679Glu)
c.1969A>G (p.Lys657Glu)
c.1927A>G (p.Lys643Glu)
c.1000A>G (p.Lys334Glu)
20g.63407279T>GCA409639247KCNQ2c.2038A>C (p.Lys680Gln)
c.1984A>C (p.Lys662Gln)
c.1381A>C (p.Lys461Gln)
c.1891A>C (p.Lys631Gln)
c.1552A>C (p.Lys518Gln)
c.1900A>C (p.Lys634Gln)
c.2008A>C (p.Lys670Gln)
c.1972A>C (p.Lys658Gln)
c.1930A>C (p.Lys644Gln)
c.1679+6171A>C (n.1679+6171A>C)
c.2026A>C (p.Lys676Gln)
c.2092A>C (p.Lys698Gln)
c.2089A>C (p.Lys697Gln)
c.2062A>C (p.Lys688Gln)
c.1981A>C (p.Lys661Gln)
c.1966A>C (p.Lys656Gln)
c.1573A>C (p.Lys525Gln)
c.2035A>C (p.Lys679Gln)
c.1969A>C (p.Lys657Gln)
c.1927A>C (p.Lys643Gln)
c.1000A>C (p.Lys334Gln)
20g.63407280G>ACA511339543KCNQ2c.2037C>T (p.Ala679=)
c.1983C>T (p.Ala661=)
c.1380C>T (p.Ala460=)
c.1890C>T (p.Ala630=)
c.1551C>T (p.Ala517=)
c.1899C>T (p.Ala633=)
c.2007C>T (p.Ala669=)
c.1971C>T (p.Ala657=)
c.1929C>T (p.Ala643=)
c.1679+6170C>T (n.1679+6170C>T)
c.2025C>T (p.Ala675=)
c.2091C>T (p.Ala697=)
c.2088C>T (p.Ala696=)
c.2061C>T (p.Ala687=)
c.1980C>T (p.Ala660=)
c.1965C>T (p.Ala655=)
c.1572C>T (p.Ala524=)
c.2034C>T (p.Ala678=)
c.1968C>T (p.Ala656=)
c.1926C>T (p.Ala642=)
c.999C>T (p.Ala333=)
 gnomAD v4
20g.63407280G>CCA511339544KCNQ2c.2037C>G (p.Ala679=)
c.1983C>G (p.Ala661=)
c.1380C>G (p.Ala460=)
c.1890C>G (p.Ala630=)
c.1551C>G (p.Ala517=)
c.1899C>G (p.Ala633=)
c.2007C>G (p.Ala669=)
c.1971C>G (p.Ala657=)
c.1929C>G (p.Ala643=)
c.1679+6170C>G (n.1679+6170C>G)
c.2025C>G (p.Ala675=)
c.2091C>G (p.Ala697=)
c.2088C>G (p.Ala696=)
c.2061C>G (p.Ala687=)
c.1980C>G (p.Ala660=)
c.1965C>G (p.Ala655=)
c.1572C>G (p.Ala524=)
c.2034C>G (p.Ala678=)
c.1968C>G (p.Ala656=)
c.1926C>G (p.Ala642=)
c.999C>G (p.Ala333=)
20g.63407280G>TCA511339542KCNQ2c.2037C>A (p.Ala679=)
c.1983C>A (p.Ala661=)
c.1380C>A (p.Ala460=)
c.1890C>A (p.Ala630=)
c.1551C>A (p.Ala517=)
c.1899C>A (p.Ala633=)
c.2007C>A (p.Ala669=)
c.1971C>A (p.Ala657=)
c.1929C>A (p.Ala643=)
c.1679+6170C>A (n.1679+6170C>A)
c.2025C>A (p.Ala675=)
c.2091C>A (p.Ala697=)
c.2088C>A (p.Ala696=)
c.2061C>A (p.Ala687=)
c.1980C>A (p.Ala660=)
c.1965C>A (p.Ala655=)
c.1572C>A (p.Ala524=)
c.2034C>A (p.Ala678=)
c.1968C>A (p.Ala656=)
c.1926C>A (p.Ala642=)
c.999C>A (p.Ala333=)
 gnomAD v4
20g.63407281G>ACA409639248KCNQ2c.2036C>T (p.Ala679Val)
c.1982C>T (p.Ala661Val)
c.1379C>T (p.Ala460Val)
c.1889C>T (p.Ala630Val)
c.1550C>T (p.Ala517Val)
c.1898C>T (p.Ala633Val)
c.2006C>T (p.Ala669Val)
c.1970C>T (p.Ala657Val)
c.1928C>T (p.Ala643Val)
c.1679+6169C>T (n.1679+6169C>T)
c.2024C>T (p.Ala675Val)
c.2090C>T (p.Ala697Val)
c.2087C>T (p.Ala696Val)
c.2060C>T (p.Ala687Val)
c.1979C>T (p.Ala660Val)
c.1964C>T (p.Ala655Val)
c.1571C>T (p.Ala524Val)
c.2033C>T (p.Ala678Val)
c.1967C>T (p.Ala656Val)
c.1925C>T (p.Ala642Val)
c.998C>T (p.Ala333Val)
20g.63407281G>CCA409639249KCNQ2c.2036C>G (p.Ala679Gly)
c.1982C>G (p.Ala661Gly)
c.1379C>G (p.Ala460Gly)
c.1889C>G (p.Ala630Gly)
c.1550C>G (p.Ala517Gly)
c.1898C>G (p.Ala633Gly)
c.2006C>G (p.Ala669Gly)
c.1970C>G (p.Ala657Gly)
c.1928C>G (p.Ala643Gly)
c.1679+6169C>G (n.1679+6169C>G)
c.2024C>G (p.Ala675Gly)
c.2090C>G (p.Ala697Gly)
c.2087C>G (p.Ala696Gly)
c.2060C>G (p.Ala687Gly)
c.1979C>G (p.Ala660Gly)
c.1964C>G (p.Ala655Gly)
c.1571C>G (p.Ala524Gly)
c.2033C>G (p.Ala678Gly)
c.1967C>G (p.Ala656Gly)
c.1925C>G (p.Ala642Gly)
c.998C>G (p.Ala333Gly)
20g.63407281G>TCA409639250KCNQ2c.2036C>A (p.Ala679Asp)
c.1982C>A (p.Ala661Asp)
c.1379C>A (p.Ala460Asp)
c.1889C>A (p.Ala630Asp)
c.1550C>A (p.Ala517Asp)
c.1898C>A (p.Ala633Asp)
c.2006C>A (p.Ala669Asp)
c.1970C>A (p.Ala657Asp)
c.1928C>A (p.Ala643Asp)
c.1679+6169C>A (n.1679+6169C>A)
c.2024C>A (p.Ala675Asp)
c.2090C>A (p.Ala697Asp)
c.2087C>A (p.Ala696Asp)
c.2060C>A (p.Ala687Asp)
c.1979C>A (p.Ala660Asp)
c.1964C>A (p.Ala655Asp)
c.1571C>A (p.Ala524Asp)
c.2033C>A (p.Ala678Asp)
c.1967C>A (p.Ala656Asp)
c.1925C>A (p.Ala642Asp)
c.998C>A (p.Ala333Asp)
 gnomAD v4
20g.63407282C>ACA409639251KCNQ2c.2035G>T (p.Ala679Ser)
c.1981G>T (p.Ala661Ser)
c.1378G>T (p.Ala460Ser)
c.1888G>T (p.Ala630Ser)
c.1549G>T (p.Ala517Ser)
c.1897G>T (p.Ala633Ser)
c.2005G>T (p.Ala669Ser)
c.1969G>T (p.Ala657Ser)
c.1927G>T (p.Ala643Ser)
c.1679+6168G>T (n.1679+6168G>T)
c.2023G>T (p.Ala675Ser)
c.2089G>T (p.Ala697Ser)
c.2086G>T (p.Ala696Ser)
c.2059G>T (p.Ala687Ser)
c.1978G>T (p.Ala660Ser)
c.1963G>T (p.Ala655Ser)
c.1570G>T (p.Ala524Ser)
c.2032G>T (p.Ala678Ser)
c.1966G>T (p.Ala656Ser)
c.1924G>T (p.Ala642Ser)
c.997G>T (p.Ala333Ser)
 gnomAD v4
20g.63407282C>GCA409639253KCNQ2c.2035G>C (p.Ala679Pro)
c.1981G>C (p.Ala661Pro)
c.1378G>C (p.Ala460Pro)
c.1888G>C (p.Ala630Pro)
c.1549G>C (p.Ala517Pro)
c.1897G>C (p.Ala633Pro)
c.2005G>C (p.Ala669Pro)
c.1969G>C (p.Ala657Pro)
c.1927G>C (p.Ala643Pro)
c.1679+6168G>C (n.1679+6168G>C)
c.2023G>C (p.Ala675Pro)
c.2089G>C (p.Ala697Pro)
c.2086G>C (p.Ala696Pro)
c.2059G>C (p.Ala687Pro)
c.1978G>C (p.Ala660Pro)
c.1963G>C (p.Ala655Pro)
c.1570G>C (p.Ala524Pro)
c.2032G>C (p.Ala678Pro)
c.1966G>C (p.Ala656Pro)
c.1924G>C (p.Ala642Pro)
c.997G>C (p.Ala333Pro)
20g.63407282C>TCA409639256KCNQ2c.2035G>A (p.Ala679Thr)
c.1981G>A (p.Ala661Thr)
c.1378G>A (p.Ala460Thr)
c.1888G>A (p.Ala630Thr)
c.1549G>A (p.Ala517Thr)
c.1897G>A (p.Ala633Thr)
c.2005G>A (p.Ala669Thr)
c.1969G>A (p.Ala657Thr)
c.1927G>A (p.Ala643Thr)
c.1679+6168G>A (n.1679+6168G>A)
c.2023G>A (p.Ala675Thr)
c.2089G>A (p.Ala697Thr)
c.2086G>A (p.Ala696Thr)
c.2059G>A (p.Ala687Thr)
c.1978G>A (p.Ala660Thr)
c.1963G>A (p.Ala655Thr)
c.1570G>A (p.Ala524Thr)
c.2032G>A (p.Ala678Thr)
c.1966G>A (p.Ala656Thr)
c.1924G>A (p.Ala642Thr)
c.997G>A (p.Ala333Thr)
20g.63407283C>ACA511339547KCNQ2c.2034G>T (p.Gly678=)
c.1980G>T (p.Gly660=)
c.1377G>T (p.Gly459=)
c.1887G>T (p.Gly629=)
c.1548G>T (p.Gly516=)
c.1896G>T (p.Gly632=)
c.2004G>T (p.Gly668=)
c.1968G>T (p.Gly656=)
c.1926G>T (p.Gly642=)
c.1679+6167G>T (n.1679+6167G>T)
c.2022G>T (p.Gly674=)
c.2088G>T (p.Gly696=)
c.2085G>T (p.Gly695=)
c.2058G>T (p.Gly686=)
c.1977G>T (p.Gly659=)
c.1962G>T (p.Gly654=)
c.1569G>T (p.Gly523=)
c.2031G>T (p.Gly677=)
c.1965G>T (p.Gly655=)
c.1923G>T (p.Gly641=)
c.996G>T (p.Gly332=)
20g.63407283C>GCA511339545KCNQ2c.2034G>C (p.Gly678=)
c.1980G>C (p.Gly660=)
c.1377G>C (p.Gly459=)
c.1887G>C (p.Gly629=)
c.1548G>C (p.Gly516=)
c.1896G>C (p.Gly632=)
c.2004G>C (p.Gly668=)
c.1968G>C (p.Gly656=)
c.1926G>C (p.Gly642=)
c.1679+6167G>C (n.1679+6167G>C)
c.2022G>C (p.Gly674=)
c.2088G>C (p.Gly696=)
c.2085G>C (p.Gly695=)
c.2058G>C (p.Gly686=)
c.1977G>C (p.Gly659=)
c.1962G>C (p.Gly654=)
c.1569G>C (p.Gly523=)
c.2031G>C (p.Gly677=)
c.1965G>C (p.Gly655=)
c.1923G>C (p.Gly641=)
c.996G>C (p.Gly332=)
20g.63407283C>TCA511339546KCNQ2c.2034G>A (p.Gly678=)
c.1980G>A (p.Gly660=)
c.1377G>A (p.Gly459=)
c.1887G>A (p.Gly629=)
c.1548G>A (p.Gly516=)
c.1896G>A (p.Gly632=)
c.2004G>A (p.Gly668=)
c.1968G>A (p.Gly656=)
c.1926G>A (p.Gly642=)
c.1679+6167G>A (n.1679+6167G>A)
c.2022G>A (p.Gly674=)
c.2088G>A (p.Gly696=)
c.2085G>A (p.Gly695=)
c.2058G>A (p.Gly686=)
c.1977G>A (p.Gly659=)
c.1962G>A (p.Gly654=)
c.1569G>A (p.Gly523=)
c.2031G>A (p.Gly677=)
c.1965G>A (p.Gly655=)
c.1923G>A (p.Gly641=)
c.996G>A (p.Gly332=)
20g.63407284C>ACA409639258KCNQ2c.2033G>T (p.Gly678Val)
c.1979G>T (p.Gly660Val)
c.1376G>T (p.Gly459Val)
c.1886G>T (p.Gly629Val)
c.1547G>T (p.Gly516Val)
c.1895G>T (p.Gly632Val)
c.2003G>T (p.Gly668Val)
c.1967G>T (p.Gly656Val)
c.1925G>T (p.Gly642Val)
c.1679+6166G>T (n.1679+6166G>T)
c.2021G>T (p.Gly674Val)
c.2087G>T (p.Gly696Val)
c.2084G>T (p.Gly695Val)
c.2057G>T (p.Gly686Val)
c.1976G>T (p.Gly659Val)
c.1961G>T (p.Gly654Val)
c.1568G>T (p.Gly523Val)
c.2030G>T (p.Gly677Val)
c.1964G>T (p.Gly655Val)
c.1922G>T (p.Gly641Val)
c.995G>T (p.Gly332Val)
 dbSNP gnomAD v3 gnomAD v4
20g.63407284C=CA2374774524KCNQ2c.2033G= (p.Gly678=)
c.1979G= (p.Gly660=)
c.1376G= (p.Gly459=)
c.1886G= (p.Gly629=)
c.1547G= (p.Gly516=)
c.1895G= (p.Gly632=)
c.2003G= (p.Gly668=)
c.1967G= (p.Gly656=)
c.1925G= (p.Gly642=)
c.1679+6166G= (n.1679+6166G=)
c.2021G= (p.Gly674=)
c.2087G= (p.Gly696=)
c.2084G= (p.Gly695=)
c.2057G= (p.Gly686=)
c.1976G= (p.Gly659=)
c.1961G= (p.Gly654=)
c.1568G= (p.Gly523=)
c.2030G= (p.Gly677=)
c.1964G= (p.Gly655=)
c.1922G= (p.Gly641=)
c.995G= (p.Gly332=)
20g.63407284C>GCA409639259KCNQ2c.2033G>C (p.Gly678Ala)
c.1979G>C (p.Gly660Ala)
c.1376G>C (p.Gly459Ala)
c.1886G>C (p.Gly629Ala)
c.1547G>C (p.Gly516Ala)
c.1895G>C (p.Gly632Ala)
c.2003G>C (p.Gly668Ala)
c.1967G>C (p.Gly656Ala)
c.1925G>C (p.Gly642Ala)
c.1679+6166G>C (n.1679+6166G>C)
c.2021G>C (p.Gly674Ala)
c.2087G>C (p.Gly696Ala)
c.2084G>C (p.Gly695Ala)
c.2057G>C (p.Gly686Ala)
c.1976G>C (p.Gly659Ala)
c.1961G>C (p.Gly654Ala)
c.1568G>C (p.Gly523Ala)
c.2030G>C (p.Gly677Ala)
c.1964G>C (p.Gly655Ala)
c.1922G>C (p.Gly641Ala)
c.995G>C (p.Gly332Ala)
20g.63407284C>TCA409639260KCNQ2c.2033G>A (p.Gly678Glu)
c.1979G>A (p.Gly660Glu)
c.1376G>A (p.Gly459Glu)
c.1886G>A (p.Gly629Glu)
c.1547G>A (p.Gly516Glu)
c.1895G>A (p.Gly632Glu)
c.2003G>A (p.Gly668Glu)
c.1967G>A (p.Gly656Glu)
c.1925G>A (p.Gly642Glu)
c.1679+6166G>A (n.1679+6166G>A)
c.2021G>A (p.Gly674Glu)
c.2087G>A (p.Gly696Glu)
c.2084G>A (p.Gly695Glu)
c.2057G>A (p.Gly686Glu)
c.1976G>A (p.Gly659Glu)
c.1961G>A (p.Gly654Glu)
c.1568G>A (p.Gly523Glu)
c.2030G>A (p.Gly677Glu)
c.1964G>A (p.Gly655Glu)
c.1922G>A (p.Gly641Glu)
c.995G>A (p.Gly332Glu)
20g.63407285C>ACA409639266KCNQ2c.2032G>T (p.Gly678Trp)
c.1978G>T (p.Gly660Trp)
c.1375G>T (p.Gly459Trp)
c.1885G>T (p.Gly629Trp)
c.1546G>T (p.Gly516Trp)
c.1894G>T (p.Gly632Trp)
c.2002G>T (p.Gly668Trp)
c.1966G>T (p.Gly656Trp)
c.1924G>T (p.Gly642Trp)
c.1679+6165G>T (n.1679+6165G>T)
c.2020G>T (p.Gly674Trp)
c.2086G>T (p.Gly696Trp)
c.2083G>T (p.Gly695Trp)
c.2056G>T (p.Gly686Trp)
c.1975G>T (p.Gly659Trp)
c.1960G>T (p.Gly654Trp)
c.1567G>T (p.Gly523Trp)
c.2029G>T (p.Gly677Trp)
c.1963G>T (p.Gly655Trp)
c.1921G>T (p.Gly641Trp)
c.994G>T (p.Gly332Trp)
 gnomAD v4
20g.63407285C=CA2374774525KCNQ2c.2032G= (p.Gly678=)
c.1978G= (p.Gly660=)
c.1375G= (p.Gly459=)
c.1885G= (p.Gly629=)
c.1546G= (p.Gly516=)
c.1894G= (p.Gly632=)
c.2002G= (p.Gly668=)
c.1966G= (p.Gly656=)
c.1924G= (p.Gly642=)
c.1679+6165G= (n.1679+6165G=)
c.2020G= (p.Gly674=)
c.2086G= (p.Gly696=)
c.2083G= (p.Gly695=)
c.2056G= (p.Gly686=)
c.1975G= (p.Gly659=)
c.1960G= (p.Gly654=)
c.1567G= (p.Gly523=)
c.2029G= (p.Gly677=)
c.1963G= (p.Gly655=)
c.1921G= (p.Gly641=)
c.994G= (p.Gly332=)
20g.63407285C>GCA409639265KCNQ2c.2032G>C (p.Gly678Arg)
c.1978G>C (p.Gly660Arg)
c.1375G>C (p.Gly459Arg)
c.1885G>C (p.Gly629Arg)
c.1546G>C (p.Gly516Arg)
c.1894G>C (p.Gly632Arg)
c.2002G>C (p.Gly668Arg)
c.1966G>C (p.Gly656Arg)
c.1924G>C (p.Gly642Arg)
c.1679+6165G>C (n.1679+6165G>C)
c.2020G>C (p.Gly674Arg)
c.2086G>C (p.Gly696Arg)
c.2083G>C (p.Gly695Arg)
c.2056G>C (p.Gly686Arg)
c.1975G>C (p.Gly659Arg)
c.1960G>C (p.Gly654Arg)
c.1567G>C (p.Gly523Arg)
c.2029G>C (p.Gly677Arg)
c.1963G>C (p.Gly655Arg)
c.1921G>C (p.Gly641Arg)
c.994G>C (p.Gly332Arg)
20g.63407285C>TCA409639264KCNQ2c.2032G>A (p.Gly678Arg)
c.1978G>A (p.Gly660Arg)
c.1375G>A (p.Gly459Arg)
c.1885G>A (p.Gly629Arg)
c.1546G>A (p.Gly516Arg)
c.1894G>A (p.Gly632Arg)
c.2002G>A (p.Gly668Arg)
c.1966G>A (p.Gly656Arg)
c.1924G>A (p.Gly642Arg)
c.1679+6165G>A (n.1679+6165G>A)
c.2020G>A (p.Gly674Arg)
c.2086G>A (p.Gly696Arg)
c.2083G>A (p.Gly695Arg)
c.2056G>A (p.Gly686Arg)
c.1975G>A (p.Gly659Arg)
c.1960G>A (p.Gly654Arg)
c.1567G>A (p.Gly523Arg)
c.2029G>A (p.Gly677Arg)
c.1963G>A (p.Gly655Arg)
c.1921G>A (p.Gly641Arg)
c.994G>A (p.Gly332Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63407286A=CA2374774526KCNQ2c.2031T= (p.Phe677=)
c.1977T= (p.Phe659=)
c.1374T= (p.Phe458=)
c.1884T= (p.Phe628=)
c.1545T= (p.Phe515=)
c.1893T= (p.Phe631=)
c.2001T= (p.Phe667=)
c.1965T= (p.Phe655=)
c.1923T= (p.Phe641=)
c.1679+6164T= (n.1679+6164T=)
c.2019T= (p.Phe673=)
c.2085T= (p.Phe695=)
c.2082T= (p.Phe694=)
c.2055T= (p.Phe685=)
c.1974T= (p.Phe658=)
c.1959T= (p.Phe653=)
c.1566T= (p.Phe522=)
c.2028T= (p.Phe676=)
c.1962T= (p.Phe654=)
c.1920T= (p.Phe640=)
c.993T= (p.Phe331=)
20g.63407286A>CCA409639270KCNQ2c.2031T>G (p.Phe677Leu)
c.1977T>G (p.Phe659Leu)
c.1374T>G (p.Phe458Leu)
c.1884T>G (p.Phe628Leu)
c.1545T>G (p.Phe515Leu)
c.1893T>G (p.Phe631Leu)
c.2001T>G (p.Phe667Leu)
c.1965T>G (p.Phe655Leu)
c.1923T>G (p.Phe641Leu)
c.1679+6164T>G (n.1679+6164T>G)
c.2019T>G (p.Phe673Leu)
c.2085T>G (p.Phe695Leu)
c.2082T>G (p.Phe694Leu)
c.2055T>G (p.Phe685Leu)
c.1974T>G (p.Phe658Leu)
c.1959T>G (p.Phe653Leu)
c.1566T>G (p.Phe522Leu)
c.2028T>G (p.Phe676Leu)
c.1962T>G (p.Phe654Leu)
c.1920T>G (p.Phe640Leu)
c.993T>G (p.Phe331Leu)
20g.63407286A>GCA9958181KCNQ2c.2031T>C (p.Phe677=)
c.1977T>C (p.Phe659=)
c.1374T>C (p.Phe458=)
c.1884T>C (p.Phe628=)
c.1545T>C (p.Phe515=)
c.1893T>C (p.Phe631=)
c.2001T>C (p.Phe667=)
c.1965T>C (p.Phe655=)
c.1923T>C (p.Phe641=)
c.1679+6164T>C (n.1679+6164T>C)
c.2019T>C (p.Phe673=)
c.2085T>C (p.Phe695=)
c.2082T>C (p.Phe694=)
c.2055T>C (p.Phe685=)
c.1974T>C (p.Phe658=)
c.1959T>C (p.Phe653=)
c.1566T>C (p.Phe522=)
c.2028T>C (p.Phe676=)
c.1962T>C (p.Phe654=)
c.1920T>C (p.Phe640=)
c.993T>C (p.Phe331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407286A>TCA409639272KCNQ2c.2031T>A (p.Phe677Leu)
c.1977T>A (p.Phe659Leu)
c.1374T>A (p.Phe458Leu)
c.1884T>A (p.Phe628Leu)
c.1545T>A (p.Phe515Leu)
c.1893T>A (p.Phe631Leu)
c.2001T>A (p.Phe667Leu)
c.1965T>A (p.Phe655Leu)
c.1923T>A (p.Phe641Leu)
c.1679+6164T>A (n.1679+6164T>A)
c.2019T>A (p.Phe673Leu)
c.2085T>A (p.Phe695Leu)
c.2082T>A (p.Phe694Leu)
c.2055T>A (p.Phe685Leu)
c.1974T>A (p.Phe658Leu)
c.1959T>A (p.Phe653Leu)
c.1566T>A (p.Phe522Leu)
c.2028T>A (p.Phe676Leu)
c.1962T>A (p.Phe654Leu)
c.1920T>A (p.Phe640Leu)
c.993T>A (p.Phe331Leu)
20g.63407287A=CA2374774527KCNQ2c.2030T= (p.Phe677=)
c.1976T= (p.Phe659=)
c.1373T= (p.Phe458=)
c.1883T= (p.Phe628=)
c.1544T= (p.Phe515=)
c.1892T= (p.Phe631=)
c.2000T= (p.Phe667=)
c.1964T= (p.Phe655=)
c.1922T= (p.Phe641=)
c.1679+6163T= (n.1679+6163T=)
c.2018T= (p.Phe673=)
c.2084T= (p.Phe695=)
c.2081T= (p.Phe694=)
c.2054T= (p.Phe685=)
c.1973T= (p.Phe658=)
c.1958T= (p.Phe653=)
c.1565T= (p.Phe522=)
c.2027T= (p.Phe676=)
c.1961T= (p.Phe654=)
c.1919T= (p.Phe640=)
c.992T= (p.Phe331=)
20g.63407287A>CCA409639274KCNQ2c.2030T>G (p.Phe677Cys)
c.1976T>G (p.Phe659Cys)
c.1373T>G (p.Phe458Cys)
c.1883T>G (p.Phe628Cys)
c.1544T>G (p.Phe515Cys)
c.1892T>G (p.Phe631Cys)
c.2000T>G (p.Phe667Cys)
c.1964T>G (p.Phe655Cys)
c.1922T>G (p.Phe641Cys)
c.1679+6163T>G (n.1679+6163T>G)
c.2018T>G (p.Phe673Cys)
c.2084T>G (p.Phe695Cys)
c.2081T>G (p.Phe694Cys)
c.2054T>G (p.Phe685Cys)
c.1973T>G (p.Phe658Cys)
c.1958T>G (p.Phe653Cys)
c.1565T>G (p.Phe522Cys)
c.2027T>G (p.Phe676Cys)
c.1961T>G (p.Phe654Cys)
c.1919T>G (p.Phe640Cys)
c.992T>G (p.Phe331Cys)
20g.63407287A>GCA9958182KCNQ2c.2030T>C (p.Phe677Ser)
c.1976T>C (p.Phe659Ser)
c.1373T>C (p.Phe458Ser)
c.1883T>C (p.Phe628Ser)
c.1544T>C (p.Phe515Ser)
c.1892T>C (p.Phe631Ser)
c.2000T>C (p.Phe667Ser)
c.1964T>C (p.Phe655Ser)
c.1922T>C (p.Phe641Ser)
c.1679+6163T>C (n.1679+6163T>C)
c.2018T>C (p.Phe673Ser)
c.2084T>C (p.Phe695Ser)
c.2081T>C (p.Phe694Ser)
c.2054T>C (p.Phe685Ser)
c.1973T>C (p.Phe658Ser)
c.1958T>C (p.Phe653Ser)
c.1565T>C (p.Phe522Ser)
c.2027T>C (p.Phe676Ser)
c.1961T>C (p.Phe654Ser)
c.1919T>C (p.Phe640Ser)
c.992T>C (p.Phe331Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407287A>TCA409639277KCNQ2c.2030T>A (p.Phe677Tyr)
c.1976T>A (p.Phe659Tyr)
c.1373T>A (p.Phe458Tyr)
c.1883T>A (p.Phe628Tyr)
c.1544T>A (p.Phe515Tyr)
c.1892T>A (p.Phe631Tyr)
c.2000T>A (p.Phe667Tyr)
c.1964T>A (p.Phe655Tyr)
c.1922T>A (p.Phe641Tyr)
c.1679+6163T>A (n.1679+6163T>A)
c.2018T>A (p.Phe673Tyr)
c.2084T>A (p.Phe695Tyr)
c.2081T>A (p.Phe694Tyr)
c.2054T>A (p.Phe685Tyr)
c.1973T>A (p.Phe658Tyr)
c.1958T>A (p.Phe653Tyr)
c.1565T>A (p.Phe522Tyr)
c.2027T>A (p.Phe676Tyr)
c.1961T>A (p.Phe654Tyr)
c.1919T>A (p.Phe640Tyr)
c.992T>A (p.Phe331Tyr)
20g.63407288A>CCA409639279KCNQ2c.2029T>G (p.Phe677Val)
c.1975T>G (p.Phe659Val)
c.1372T>G (p.Phe458Val)
c.1882T>G (p.Phe628Val)
c.1543T>G (p.Phe515Val)
c.1891T>G (p.Phe631Val)
c.1999T>G (p.Phe667Val)
c.1963T>G (p.Phe655Val)
c.1921T>G (p.Phe641Val)
c.1679+6162T>G (n.1679+6162T>G)
c.2017T>G (p.Phe673Val)
c.2083T>G (p.Phe695Val)
c.2080T>G (p.Phe694Val)
c.2053T>G (p.Phe685Val)
c.1972T>G (p.Phe658Val)
c.1957T>G (p.Phe653Val)
c.1564T>G (p.Phe522Val)
c.2026T>G (p.Phe676Val)
c.1960T>G (p.Phe654Val)
c.1918T>G (p.Phe640Val)
c.991T>G (p.Phe331Val)
20g.63407288A>GCA409639281KCNQ2c.2029T>C (p.Phe677Leu)
c.1975T>C (p.Phe659Leu)
c.1372T>C (p.Phe458Leu)
c.1882T>C (p.Phe628Leu)
c.1543T>C (p.Phe515Leu)
c.1891T>C (p.Phe631Leu)
c.1999T>C (p.Phe667Leu)
c.1963T>C (p.Phe655Leu)
c.1921T>C (p.Phe641Leu)
c.1679+6162T>C (n.1679+6162T>C)
c.2017T>C (p.Phe673Leu)
c.2083T>C (p.Phe695Leu)
c.2080T>C (p.Phe694Leu)
c.2053T>C (p.Phe685Leu)
c.1972T>C (p.Phe658Leu)
c.1957T>C (p.Phe653Leu)
c.1564T>C (p.Phe522Leu)
c.2026T>C (p.Phe676Leu)
c.1960T>C (p.Phe654Leu)
c.1918T>C (p.Phe640Leu)
c.991T>C (p.Phe331Leu)
20g.63407288A>TCA409639283KCNQ2c.2029T>A (p.Phe677Ile)
c.1975T>A (p.Phe659Ile)
c.1372T>A (p.Phe458Ile)
c.1882T>A (p.Phe628Ile)
c.1543T>A (p.Phe515Ile)
c.1891T>A (p.Phe631Ile)
c.1999T>A (p.Phe667Ile)
c.1963T>A (p.Phe655Ile)
c.1921T>A (p.Phe641Ile)
c.1679+6162T>A (n.1679+6162T>A)
c.2017T>A (p.Phe673Ile)
c.2083T>A (p.Phe695Ile)
c.2080T>A (p.Phe694Ile)
c.2053T>A (p.Phe685Ile)
c.1972T>A (p.Phe658Ile)
c.1957T>A (p.Phe653Ile)
c.1564T>A (p.Phe522Ile)
c.2026T>A (p.Phe676Ile)
c.1960T>A (p.Phe654Ile)
c.1918T>A (p.Phe640Ile)
c.991T>A (p.Phe331Ile)
20g.63407289G>ACA511339548KCNQ2c.2028C>T (p.Tyr676=)
c.1974C>T (p.Tyr658=)
c.1371C>T (p.Tyr457=)
c.1881C>T (p.Tyr627=)
c.1542C>T (p.Tyr514=)
c.1890C>T (p.Tyr630=)
c.1998C>T (p.Tyr666=)
c.1962C>T (p.Tyr654=)
c.1920C>T (p.Tyr640=)
c.1679+6161C>T (n.1679+6161C>T)
c.2016C>T (p.Tyr672=)
c.2082C>T (p.Tyr694=)
c.2079C>T (p.Tyr693=)
c.2052C>T (p.Tyr684=)
c.1971C>T (p.Tyr657=)
c.1956C>T (p.Tyr652=)
c.1563C>T (p.Tyr521=)
c.2025C>T (p.Tyr675=)
c.1959C>T (p.Tyr653=)
c.1917C>T (p.Tyr639=)
c.990C>T (p.Tyr330=)
20g.63407289G>CCA409639288KCNQ2c.2028C>G (p.Tyr676Ter)
c.1974C>G (p.Tyr658Ter)
c.1371C>G (p.Tyr457Ter)
c.1881C>G (p.Tyr627Ter)
c.1542C>G (p.Tyr514Ter)
c.1890C>G (p.Tyr630Ter)
c.1998C>G (p.Tyr666Ter)
c.1962C>G (p.Tyr654Ter)
c.1920C>G (p.Tyr640Ter)
c.1679+6161C>G (n.1679+6161C>G)
c.2016C>G (p.Tyr672Ter)
c.2082C>G (p.Tyr694Ter)
c.2079C>G (p.Tyr693Ter)
c.2052C>G (p.Tyr684Ter)
c.1971C>G (p.Tyr657Ter)
c.1956C>G (p.Tyr652Ter)
c.1563C>G (p.Tyr521Ter)
c.2025C>G (p.Tyr675Ter)
c.1959C>G (p.Tyr653Ter)
c.1917C>G (p.Tyr639Ter)
c.990C>G (p.Tyr330Ter)
20g.63407289G>TCA409639286KCNQ2c.2028C>A (p.Tyr676Ter)
c.1974C>A (p.Tyr658Ter)
c.1371C>A (p.Tyr457Ter)
c.1881C>A (p.Tyr627Ter)
c.1542C>A (p.Tyr514Ter)
c.1890C>A (p.Tyr630Ter)
c.1998C>A (p.Tyr666Ter)
c.1962C>A (p.Tyr654Ter)
c.1920C>A (p.Tyr640Ter)
c.1679+6161C>A (n.1679+6161C>A)
c.2016C>A (p.Tyr672Ter)
c.2082C>A (p.Tyr694Ter)
c.2079C>A (p.Tyr693Ter)
c.2052C>A (p.Tyr684Ter)
c.1971C>A (p.Tyr657Ter)
c.1956C>A (p.Tyr652Ter)
c.1563C>A (p.Tyr521Ter)
c.2025C>A (p.Tyr675Ter)
c.1959C>A (p.Tyr653Ter)
c.1917C>A (p.Tyr639Ter)
c.990C>A (p.Tyr330Ter)
20g.63407290T>ACA409639290KCNQ2c.2027A>T (p.Tyr676Phe)
c.1973A>T (p.Tyr658Phe)
c.1370A>T (p.Tyr457Phe)
c.1880A>T (p.Tyr627Phe)
c.1541A>T (p.Tyr514Phe)
c.1889A>T (p.Tyr630Phe)
c.1997A>T (p.Tyr666Phe)
c.1961A>T (p.Tyr654Phe)
c.1919A>T (p.Tyr640Phe)
c.1679+6160A>T (n.1679+6160A>T)
c.2015A>T (p.Tyr672Phe)
c.2081A>T (p.Tyr694Phe)
c.2078A>T (p.Tyr693Phe)
c.2051A>T (p.Tyr684Phe)
c.1970A>T (p.Tyr657Phe)
c.1955A>T (p.Tyr652Phe)
c.1562A>T (p.Tyr521Phe)
c.2024A>T (p.Tyr675Phe)
c.1958A>T (p.Tyr653Phe)
c.1916A>T (p.Tyr639Phe)
c.989A>T (p.Tyr330Phe)
20g.63407290T>CCA9958183KCNQ2c.2027A>G (p.Tyr676Cys)
c.1973A>G (p.Tyr658Cys)
c.1370A>G (p.Tyr457Cys)
c.1880A>G (p.Tyr627Cys)
c.1541A>G (p.Tyr514Cys)
c.1889A>G (p.Tyr630Cys)
c.1997A>G (p.Tyr666Cys)
c.1961A>G (p.Tyr654Cys)
c.1919A>G (p.Tyr640Cys)
c.1679+6160A>G (n.1679+6160A>G)
c.2015A>G (p.Tyr672Cys)
c.2081A>G (p.Tyr694Cys)
c.2078A>G (p.Tyr693Cys)
c.2051A>G (p.Tyr684Cys)
c.1970A>G (p.Tyr657Cys)
c.1955A>G (p.Tyr652Cys)
c.1562A>G (p.Tyr521Cys)
c.2024A>G (p.Tyr675Cys)
c.1958A>G (p.Tyr653Cys)
c.1916A>G (p.Tyr639Cys)
c.989A>G (p.Tyr330Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407290T>GCA409639293KCNQ2c.2027A>C (p.Tyr676Ser)
c.1973A>C (p.Tyr658Ser)
c.1370A>C (p.Tyr457Ser)
c.1880A>C (p.Tyr627Ser)
c.1541A>C (p.Tyr514Ser)
c.1889A>C (p.Tyr630Ser)
c.1997A>C (p.Tyr666Ser)
c.1961A>C (p.Tyr654Ser)
c.1919A>C (p.Tyr640Ser)
c.1679+6160A>C (n.1679+6160A>C)
c.2015A>C (p.Tyr672Ser)
c.2081A>C (p.Tyr694Ser)
c.2078A>C (p.Tyr693Ser)
c.2051A>C (p.Tyr684Ser)
c.1970A>C (p.Tyr657Ser)
c.1955A>C (p.Tyr652Ser)
c.1562A>C (p.Tyr521Ser)
c.2024A>C (p.Tyr675Ser)
c.1958A>C (p.Tyr653Ser)
c.1916A>C (p.Tyr639Ser)
c.989A>C (p.Tyr330Ser)
20g.63407290T=CA2374774528KCNQ2c.2027A= (p.Tyr676=)
c.1973A= (p.Tyr658=)
c.1370A= (p.Tyr457=)
c.1880A= (p.Tyr627=)
c.1541A= (p.Tyr514=)
c.1889A= (p.Tyr630=)
c.1997A= (p.Tyr666=)
c.1961A= (p.Tyr654=)
c.1919A= (p.Tyr640=)
c.1679+6160A= (n.1679+6160A=)
c.2015A= (p.Tyr672=)
c.2081A= (p.Tyr694=)
c.2078A= (p.Tyr693=)
c.2051A= (p.Tyr684=)
c.1970A= (p.Tyr657=)
c.1955A= (p.Tyr652=)
c.1562A= (p.Tyr521=)
c.2024A= (p.Tyr675=)
c.1958A= (p.Tyr653=)
c.1916A= (p.Tyr639=)
c.989A= (p.Tyr330=)
20g.63407291A=CA2374774529KCNQ2c.2026T= (p.Tyr676=)
c.1972T= (p.Tyr658=)
c.1369T= (p.Tyr457=)
c.1879T= (p.Tyr627=)
c.1540T= (p.Tyr514=)
c.1888T= (p.Tyr630=)
c.1996T= (p.Tyr666=)
c.1960T= (p.Tyr654=)
c.1918T= (p.Tyr640=)
c.1679+6159T= (n.1679+6159T=)
c.2014T= (p.Tyr672=)
c.2080T= (p.Tyr694=)
c.2077T= (p.Tyr693=)
c.2050T= (p.Tyr684=)
c.1969T= (p.Tyr657=)
c.1954T= (p.Tyr652=)
c.1561T= (p.Tyr521=)
c.2023T= (p.Tyr675=)
c.1957T= (p.Tyr653=)
c.1915T= (p.Tyr639=)
c.988T= (p.Tyr330=)
20g.63407291A>CCA409639296KCNQ2c.2026T>G (p.Tyr676Asp)
c.1972T>G (p.Tyr658Asp)
c.1369T>G (p.Tyr457Asp)
c.1879T>G (p.Tyr627Asp)
c.1540T>G (p.Tyr514Asp)
c.1888T>G (p.Tyr630Asp)
c.1996T>G (p.Tyr666Asp)
c.1960T>G (p.Tyr654Asp)
c.1918T>G (p.Tyr640Asp)
c.1679+6159T>G (n.1679+6159T>G)
c.2014T>G (p.Tyr672Asp)
c.2080T>G (p.Tyr694Asp)
c.2077T>G (p.Tyr693Asp)
c.2050T>G (p.Tyr684Asp)
c.1969T>G (p.Tyr657Asp)
c.1954T>G (p.Tyr652Asp)
c.1561T>G (p.Tyr521Asp)
c.2023T>G (p.Tyr675Asp)
c.1957T>G (p.Tyr653Asp)
c.1915T>G (p.Tyr639Asp)
c.988T>G (p.Tyr330Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.63407291A>GCA409639301KCNQ2c.2026T>C (p.Tyr676His)
c.1972T>C (p.Tyr658His)
c.1369T>C (p.Tyr457His)
c.1879T>C (p.Tyr627His)
c.1540T>C (p.Tyr514His)
c.1888T>C (p.Tyr630His)
c.1996T>C (p.Tyr666His)
c.1960T>C (p.Tyr654His)
c.1918T>C (p.Tyr640His)
c.1679+6159T>C (n.1679+6159T>C)
c.2014T>C (p.Tyr672His)
c.2080T>C (p.Tyr694His)
c.2077T>C (p.Tyr693His)
c.2050T>C (p.Tyr684His)
c.1969T>C (p.Tyr657His)
c.1954T>C (p.Tyr652His)
c.1561T>C (p.Tyr521His)
c.2023T>C (p.Tyr675His)
c.1957T>C (p.Tyr653His)
c.1915T>C (p.Tyr639His)
c.988T>C (p.Tyr330His)
 gnomAD v4
20g.63407291A>TCA409639303KCNQ2c.2026T>A (p.Tyr676Asn)
c.1972T>A (p.Tyr658Asn)
c.1369T>A (p.Tyr457Asn)
c.1879T>A (p.Tyr627Asn)
c.1540T>A (p.Tyr514Asn)
c.1888T>A (p.Tyr630Asn)
c.1996T>A (p.Tyr666Asn)
c.1960T>A (p.Tyr654Asn)
c.1918T>A (p.Tyr640Asn)
c.1679+6159T>A (n.1679+6159T>A)
c.2014T>A (p.Tyr672Asn)
c.2080T>A (p.Tyr694Asn)
c.2077T>A (p.Tyr693Asn)
c.2050T>A (p.Tyr684Asn)
c.1969T>A (p.Tyr657Asn)
c.1954T>A (p.Tyr652Asn)
c.1561T>A (p.Tyr521Asn)
c.2023T>A (p.Tyr675Asn)
c.1957T>A (p.Tyr653Asn)
c.1915T>A (p.Tyr639Asn)
c.988T>A (p.Tyr330Asn)
20g.63407292G>ACA511339551KCNQ2c.2025C>T (p.Ala675=)
c.1971C>T (p.Ala657=)
c.1368C>T (p.Ala456=)
c.1878C>T (p.Ala626=)
c.1539C>T (p.Ala513=)
c.1887C>T (p.Ala629=)
c.1995C>T (p.Ala665=)
c.1959C>T (p.Ala653=)
c.1917C>T (p.Ala639=)
c.1679+6158C>T (n.1679+6158C>T)
c.2013C>T (p.Ala671=)
c.2079C>T (p.Ala693=)
c.2076C>T (p.Ala692=)
c.2049C>T (p.Ala683=)
c.1968C>T (p.Ala656=)
c.1953C>T (p.Ala651=)
c.1560C>T (p.Ala520=)
c.2022C>T (p.Ala674=)
c.1956C>T (p.Ala652=)
c.1914C>T (p.Ala638=)
c.987C>T (p.Ala329=)
20g.63407292G>CCA511339549KCNQ2c.2025C>G (p.Ala675=)
c.1971C>G (p.Ala657=)
c.1368C>G (p.Ala456=)
c.1878C>G (p.Ala626=)
c.1539C>G (p.Ala513=)
c.1887C>G (p.Ala629=)
c.1995C>G (p.Ala665=)
c.1959C>G (p.Ala653=)
c.1917C>G (p.Ala639=)
c.1679+6158C>G (n.1679+6158C>G)
c.2013C>G (p.Ala671=)
c.2079C>G (p.Ala693=)
c.2076C>G (p.Ala692=)
c.2049C>G (p.Ala683=)
c.1968C>G (p.Ala656=)
c.1953C>G (p.Ala651=)
c.1560C>G (p.Ala520=)
c.2022C>G (p.Ala674=)
c.1956C>G (p.Ala652=)
c.1914C>G (p.Ala638=)
c.987C>G (p.Ala329=)
20g.63407292G>TCA511339550KCNQ2c.2025C>A (p.Ala675=)
c.1971C>A (p.Ala657=)
c.1368C>A (p.Ala456=)
c.1878C>A (p.Ala626=)
c.1539C>A (p.Ala513=)
c.1887C>A (p.Ala629=)
c.1995C>A (p.Ala665=)
c.1959C>A (p.Ala653=)
c.1917C>A (p.Ala639=)
c.1679+6158C>A (n.1679+6158C>A)
c.2013C>A (p.Ala671=)
c.2079C>A (p.Ala693=)
c.2076C>A (p.Ala692=)
c.2049C>A (p.Ala683=)
c.1968C>A (p.Ala656=)
c.1953C>A (p.Ala651=)
c.1560C>A (p.Ala520=)
c.2022C>A (p.Ala674=)
c.1956C>A (p.Ala652=)
c.1914C>A (p.Ala638=)
c.987C>A (p.Ala329=)
20g.63407293G>ACA409639309KCNQ2c.2024C>T (p.Ala675Val)
c.1970C>T (p.Ala657Val)
c.1367C>T (p.Ala456Val)
c.1877C>T (p.Ala626Val)
c.1538C>T (p.Ala513Val)
c.1886C>T (p.Ala629Val)
c.1994C>T (p.Ala665Val)
c.1958C>T (p.Ala653Val)
c.1916C>T (p.Ala639Val)
c.1679+6157C>T (n.1679+6157C>T)
c.2012C>T (p.Ala671Val)
c.2078C>T (p.Ala693Val)
c.2075C>T (p.Ala692Val)
c.2048C>T (p.Ala683Val)
c.1967C>T (p.Ala656Val)
c.1952C>T (p.Ala651Val)
c.1559C>T (p.Ala520Val)
c.2021C>T (p.Ala674Val)
c.1955C>T (p.Ala652Val)
c.1913C>T (p.Ala638Val)
c.986C>T (p.Ala329Val)
20g.63407293G>CCA409639306KCNQ2c.2024C>G (p.Ala675Gly)
c.1970C>G (p.Ala657Gly)
c.1367C>G (p.Ala456Gly)
c.1877C>G (p.Ala626Gly)
c.1538C>G (p.Ala513Gly)
c.1886C>G (p.Ala629Gly)
c.1994C>G (p.Ala665Gly)
c.1958C>G (p.Ala653Gly)
c.1916C>G (p.Ala639Gly)
c.1679+6157C>G (n.1679+6157C>G)
c.2012C>G (p.Ala671Gly)
c.2078C>G (p.Ala693Gly)
c.2075C>G (p.Ala692Gly)
c.2048C>G (p.Ala683Gly)
c.1967C>G (p.Ala656Gly)
c.1952C>G (p.Ala651Gly)
c.1559C>G (p.Ala520Gly)
c.2021C>G (p.Ala674Gly)
c.1955C>G (p.Ala652Gly)
c.1913C>G (p.Ala638Gly)
c.986C>G (p.Ala329Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.63407293G>TCA409639308KCNQ2c.2024C>A (p.Ala675Asp)
c.1970C>A (p.Ala657Asp)
c.1367C>A (p.Ala456Asp)
c.1877C>A (p.Ala626Asp)
c.1538C>A (p.Ala513Asp)
c.1886C>A (p.Ala629Asp)
c.1994C>A (p.Ala665Asp)
c.1958C>A (p.Ala653Asp)
c.1916C>A (p.Ala639Asp)
c.1679+6157C>A (n.1679+6157C>A)
c.2012C>A (p.Ala671Asp)
c.2078C>A (p.Ala693Asp)
c.2075C>A (p.Ala692Asp)
c.2048C>A (p.Ala683Asp)
c.1967C>A (p.Ala656Asp)
c.1952C>A (p.Ala651Asp)
c.1559C>A (p.Ala520Asp)
c.2021C>A (p.Ala674Asp)
c.1955C>A (p.Ala652Asp)
c.1913C>A (p.Ala638Asp)
c.986C>A (p.Ala329Asp)
20g.63407294C>ACA409639313KCNQ2c.2023G>T (p.Ala675Ser)
c.1969G>T (p.Ala657Ser)
c.1366G>T (p.Ala456Ser)
c.1876G>T (p.Ala626Ser)
c.1537G>T (p.Ala513Ser)
c.1885G>T (p.Ala629Ser)
c.1993G>T (p.Ala665Ser)
c.1957G>T (p.Ala653Ser)
c.1915G>T (p.Ala639Ser)
c.1679+6156G>T (n.1679+6156G>T)
c.2011G>T (p.Ala671Ser)
c.2077G>T (p.Ala693Ser)
c.2074G>T (p.Ala692Ser)
c.2047G>T (p.Ala683Ser)
c.1966G>T (p.Ala656Ser)
c.1951G>T (p.Ala651Ser)
c.1558G>T (p.Ala520Ser)
c.2020G>T (p.Ala674Ser)
c.1954G>T (p.Ala652Ser)
c.1912G>T (p.Ala638Ser)
c.985G>T (p.Ala329Ser)
20g.63407294C=CA2374774530KCNQ2c.2023G= (p.Ala675=)
c.1969G= (p.Ala657=)
c.1366G= (p.Ala456=)
c.1876G= (p.Ala626=)
c.1537G= (p.Ala513=)
c.1885G= (p.Ala629=)
c.1993G= (p.Ala665=)
c.1957G= (p.Ala653=)
c.1915G= (p.Ala639=)
c.1679+6156G= (n.1679+6156G=)
c.2011G= (p.Ala671=)
c.2077G= (p.Ala693=)
c.2074G= (p.Ala692=)
c.2047G= (p.Ala683=)
c.1966G= (p.Ala656=)
c.1951G= (p.Ala651=)
c.1558G= (p.Ala520=)
c.2020G= (p.Ala674=)
c.1954G= (p.Ala652=)
c.1912G= (p.Ala638=)
c.985G= (p.Ala329=)
20g.63407294C>GCA409639314KCNQ2c.2023G>C (p.Ala675Pro)
c.1969G>C (p.Ala657Pro)
c.1366G>C (p.Ala456Pro)
c.1876G>C (p.Ala626Pro)
c.1537G>C (p.Ala513Pro)
c.1885G>C (p.Ala629Pro)
c.1993G>C (p.Ala665Pro)
c.1957G>C (p.Ala653Pro)
c.1915G>C (p.Ala639Pro)
c.1679+6156G>C (n.1679+6156G>C)
c.2011G>C (p.Ala671Pro)
c.2077G>C (p.Ala693Pro)
c.2074G>C (p.Ala692Pro)
c.2047G>C (p.Ala683Pro)
c.1966G>C (p.Ala656Pro)
c.1951G>C (p.Ala651Pro)
c.1558G>C (p.Ala520Pro)
c.2020G>C (p.Ala674Pro)
c.1954G>C (p.Ala652Pro)
c.1912G>C (p.Ala638Pro)
c.985G>C (p.Ala329Pro)
20g.63407294C>TCA9958184KCNQ2c.2023G>A (p.Ala675Thr)
c.1969G>A (p.Ala657Thr)
c.1366G>A (p.Ala456Thr)
c.1876G>A (p.Ala626Thr)
c.1537G>A (p.Ala513Thr)
c.1885G>A (p.Ala629Thr)
c.1993G>A (p.Ala665Thr)
c.1957G>A (p.Ala653Thr)
c.1915G>A (p.Ala639Thr)
c.1679+6156G>A (n.1679+6156G>A)
c.2011G>A (p.Ala671Thr)
c.2077G>A (p.Ala693Thr)
c.2074G>A (p.Ala692Thr)
c.2047G>A (p.Ala683Thr)
c.1966G>A (p.Ala656Thr)
c.1951G>A (p.Ala651Thr)
c.1558G>A (p.Ala520Thr)
c.2020G>A (p.Ala674Thr)
c.1954G>A (p.Ala652Thr)
c.1912G>A (p.Ala638Thr)
c.985G>A (p.Ala329Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407295C>ACA409639315KCNQ2c.2022G>T (p.Glu674Asp)
c.1968G>T (p.Glu656Asp)
c.1365G>T (p.Glu455Asp)
c.1875G>T (p.Glu625Asp)
c.1536G>T (p.Glu512Asp)
c.1884G>T (p.Glu628Asp)
c.1992G>T (p.Glu664Asp)
c.1956G>T (p.Glu652Asp)
c.1914G>T (p.Glu638Asp)
c.1679+6155G>T (n.1679+6155G>T)
c.2010G>T (p.Glu670Asp)
c.2076G>T (p.Glu692Asp)
c.2073G>T (p.Glu691Asp)
c.2046G>T (p.Glu682Asp)
c.1965G>T (p.Glu655Asp)
c.1950G>T (p.Glu650Asp)
c.1557G>T (p.Glu519Asp)
c.2019G>T (p.Glu673Asp)
c.1953G>T (p.Glu651Asp)
c.1911G>T (p.Glu637Asp)
c.984G>T (p.Glu328Asp)
20g.63407295C=CA2374774531KCNQ2c.2022G= (p.Glu674=)
c.1968G= (p.Glu656=)
c.1365G= (p.Glu455=)
c.1875G= (p.Glu625=)
c.1536G= (p.Glu512=)
c.1884G= (p.Glu628=)
c.1992G= (p.Glu664=)
c.1956G= (p.Glu652=)
c.1914G= (p.Glu638=)
c.1679+6155G= (n.1679+6155G=)
c.2010G= (p.Glu670=)
c.2076G= (p.Glu692=)
c.2073G= (p.Glu691=)
c.2046G= (p.Glu682=)
c.1965G= (p.Glu655=)
c.1950G= (p.Glu650=)
c.1557G= (p.Glu519=)
c.2019G= (p.Glu673=)
c.1953G= (p.Glu651=)
c.1911G= (p.Glu637=)
c.984G= (p.Glu328=)
20g.63407295C>GCA409639316KCNQ2c.2022G>C (p.Glu674Asp)
c.1968G>C (p.Glu656Asp)
c.1365G>C (p.Glu455Asp)
c.1875G>C (p.Glu625Asp)
c.1536G>C (p.Glu512Asp)
c.1884G>C (p.Glu628Asp)
c.1992G>C (p.Glu664Asp)
c.1956G>C (p.Glu652Asp)
c.1914G>C (p.Glu638Asp)
c.1679+6155G>C (n.1679+6155G>C)
c.2010G>C (p.Glu670Asp)
c.2076G>C (p.Glu692Asp)
c.2073G>C (p.Glu691Asp)
c.2046G>C (p.Glu682Asp)
c.1965G>C (p.Glu655Asp)
c.1950G>C (p.Glu650Asp)
c.1557G>C (p.Glu519Asp)
c.2019G>C (p.Glu673Asp)
c.1953G>C (p.Glu651Asp)
c.1911G>C (p.Glu637Asp)
c.984G>C (p.Glu328Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407295C>TCA511339552KCNQ2c.2022G>A (p.Glu674=)
c.1968G>A (p.Glu656=)
c.1365G>A (p.Glu455=)
c.1875G>A (p.Glu625=)
c.1536G>A (p.Glu512=)
c.1884G>A (p.Glu628=)
c.1992G>A (p.Glu664=)
c.1956G>A (p.Glu652=)
c.1914G>A (p.Glu638=)
c.1679+6155G>A (n.1679+6155G>A)
c.2010G>A (p.Glu670=)
c.2076G>A (p.Glu692=)
c.2073G>A (p.Glu691=)
c.2046G>A (p.Glu682=)
c.1965G>A (p.Glu655=)
c.1950G>A (p.Glu650=)
c.1557G>A (p.Glu519=)
c.2019G>A (p.Glu673=)
c.1953G>A (p.Glu651=)
c.1911G>A (p.Glu637=)
c.984G>A (p.Glu328=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407296T>ACA409639317KCNQ2c.2021A>T (p.Glu674Val)
c.1967A>T (p.Glu656Val)
c.1364A>T (p.Glu455Val)
c.1874A>T (p.Glu625Val)
c.1535A>T (p.Glu512Val)
c.1883A>T (p.Glu628Val)
c.1991A>T (p.Glu664Val)
c.1955A>T (p.Glu652Val)
c.1913A>T (p.Glu638Val)
c.1679+6154A>T (n.1679+6154A>T)
c.2009A>T (p.Glu670Val)
c.2075A>T (p.Glu692Val)
c.2072A>T (p.Glu691Val)
c.2045A>T (p.Glu682Val)
c.1964A>T (p.Glu655Val)
c.1949A>T (p.Glu650Val)
c.1556A>T (p.Glu519Val)
c.2018A>T (p.Glu673Val)
c.1952A>T (p.Glu651Val)
c.1910A>T (p.Glu637Val)
c.983A>T (p.Glu328Val)
20g.63407296T>CCA409639318KCNQ2c.2021A>G (p.Glu674Gly)
c.1967A>G (p.Glu656Gly)
c.1364A>G (p.Glu455Gly)
c.1874A>G (p.Glu625Gly)
c.1535A>G (p.Glu512Gly)
c.1883A>G (p.Glu628Gly)
c.1991A>G (p.Glu664Gly)
c.1955A>G (p.Glu652Gly)
c.1913A>G (p.Glu638Gly)
c.1679+6154A>G (n.1679+6154A>G)
c.2009A>G (p.Glu670Gly)
c.2075A>G (p.Glu692Gly)
c.2072A>G (p.Glu691Gly)
c.2045A>G (p.Glu682Gly)
c.1964A>G (p.Glu655Gly)
c.1949A>G (p.Glu650Gly)
c.1556A>G (p.Glu519Gly)
c.2018A>G (p.Glu673Gly)
c.1952A>G (p.Glu651Gly)
c.1910A>G (p.Glu637Gly)
c.983A>G (p.Glu328Gly)
 dbSNP
20g.63407296T>GCA409639319KCNQ2c.2021A>C (p.Glu674Ala)
c.1967A>C (p.Glu656Ala)
c.1364A>C (p.Glu455Ala)
c.1874A>C (p.Glu625Ala)
c.1535A>C (p.Glu512Ala)
c.1883A>C (p.Glu628Ala)
c.1991A>C (p.Glu664Ala)
c.1955A>C (p.Glu652Ala)
c.1913A>C (p.Glu638Ala)
c.1679+6154A>C (n.1679+6154A>C)
c.2009A>C (p.Glu670Ala)
c.2075A>C (p.Glu692Ala)
c.2072A>C (p.Glu691Ala)
c.2045A>C (p.Glu682Ala)
c.1964A>C (p.Glu655Ala)
c.1949A>C (p.Glu650Ala)
c.1556A>C (p.Glu519Ala)
c.2018A>C (p.Glu673Ala)
c.1952A>C (p.Glu651Ala)
c.1910A>C (p.Glu637Ala)
c.983A>C (p.Glu328Ala)
20g.63407296T=CA2374774532KCNQ2c.2021A= (p.Glu674=)
c.1967A= (p.Glu656=)
c.1364A= (p.Glu455=)
c.1874A= (p.Glu625=)
c.1535A= (p.Glu512=)
c.1883A= (p.Glu628=)
c.1991A= (p.Glu664=)
c.1955A= (p.Glu652=)
c.1913A= (p.Glu638=)
c.1679+6154A= (n.1679+6154A=)
c.2009A= (p.Glu670=)
c.2075A= (p.Glu692=)
c.2072A= (p.Glu691=)
c.2045A= (p.Glu682=)
c.1964A= (p.Glu655=)
c.1949A= (p.Glu650=)
c.1556A= (p.Glu519=)
c.2018A= (p.Glu673=)
c.1952A= (p.Glu651=)
c.1910A= (p.Glu637=)
c.983A= (p.Glu328=)
20g.63407297delCA2499225802KCNQ2c.2020del (p.Glu674ArgfsTer?)
c.1966del (p.Glu656ArgfsTer?)
c.1363del (p.Glu455ArgfsTer?)
c.1873del (p.Glu625ArgfsTer?)
c.1534del (p.Glu512ArgfsTer?)
c.1882del (p.Glu628ArgfsTer?)
c.1990del (p.Glu664ArgfsTer?)
c.1954del (p.Glu652ArgfsTer?)
c.1912del (p.Glu638ArgfsTer?)
c.1679+6153del (n.1679+6153del)
c.2008del (p.Glu670ArgfsTer?)
c.2074del (p.Glu692ArgfsTer?)
c.2071del (p.Glu691ArgfsTer?)
c.2044del (p.Glu682ArgfsTer?)
c.1963del (p.Glu655ArgfsTer?)
c.1948del (p.Glu650ArgfsTer?)
c.1555del (p.Glu519ArgfsTer?)
c.2017del (p.Glu673ArgfsTer?)
c.1951del (p.Glu651ArgfsTer?)
c.1909del (p.Glu637ArgfsTer?)
c.982del (p.Glu328ArgfsTer?)
 ClinVar dbSNP
20g.63407297C>ACA409639320KCNQ2c.2020G>T (p.Glu674Ter)
c.1966G>T (p.Glu656Ter)
c.1363G>T (p.Glu455Ter)
c.1873G>T (p.Glu625Ter)
c.1534G>T (p.Glu512Ter)
c.1882G>T (p.Glu628Ter)
c.1990G>T (p.Glu664Ter)
c.1954G>T (p.Glu652Ter)
c.1912G>T (p.Glu638Ter)
c.1679+6153G>T (n.1679+6153G>T)
c.2008G>T (p.Glu670Ter)
c.2074G>T (p.Glu692Ter)
c.2071G>T (p.Glu691Ter)
c.2044G>T (p.Glu682Ter)
c.1963G>T (p.Glu655Ter)
c.1948G>T (p.Glu650Ter)
c.1555G>T (p.Glu519Ter)
c.2017G>T (p.Glu673Ter)
c.1951G>T (p.Glu651Ter)
c.1909G>T (p.Glu637Ter)
c.982G>T (p.Glu328Ter)
 gnomAD v4
20g.63407297C=CA2374774533KCNQ2c.2020G= (p.Glu674=)
c.1966G= (p.Glu656=)
c.1363G= (p.Glu455=)
c.1873G= (p.Glu625=)
c.1534G= (p.Glu512=)
c.1882G= (p.Glu628=)
c.1990G= (p.Glu664=)
c.1954G= (p.Glu652=)
c.1912G= (p.Glu638=)
c.1679+6153G= (n.1679+6153G=)
c.2008G= (p.Glu670=)
c.2074G= (p.Glu692=)
c.2071G= (p.Glu691=)
c.2044G= (p.Glu682=)
c.1963G= (p.Glu655=)
c.1948G= (p.Glu650=)
c.1555G= (p.Glu519=)
c.2017G= (p.Glu673=)
c.1951G= (p.Glu651=)
c.1909G= (p.Glu637=)
c.982G= (p.Glu328=)
20g.63407297C>GCA409639321KCNQ2c.2020G>C (p.Glu674Gln)
c.1966G>C (p.Glu656Gln)
c.1363G>C (p.Glu455Gln)
c.1873G>C (p.Glu625Gln)
c.1534G>C (p.Glu512Gln)
c.1882G>C (p.Glu628Gln)
c.1990G>C (p.Glu664Gln)
c.1954G>C (p.Glu652Gln)
c.1912G>C (p.Glu638Gln)
c.1679+6153G>C (n.1679+6153G>C)
c.2008G>C (p.Glu670Gln)
c.2074G>C (p.Glu692Gln)
c.2071G>C (p.Glu691Gln)
c.2044G>C (p.Glu682Gln)
c.1963G>C (p.Glu655Gln)
c.1948G>C (p.Glu650Gln)
c.1555G>C (p.Glu519Gln)
c.2017G>C (p.Glu673Gln)
c.1951G>C (p.Glu651Gln)
c.1909G>C (p.Glu637Gln)
c.982G>C (p.Glu328Gln)
20g.63407297C>TCA9958185KCNQ2c.2020G>A (p.Glu674Lys)
c.1966G>A (p.Glu656Lys)
c.1363G>A (p.Glu455Lys)
c.1873G>A (p.Glu625Lys)
c.1534G>A (p.Glu512Lys)
c.1882G>A (p.Glu628Lys)
c.1990G>A (p.Glu664Lys)
c.1954G>A (p.Glu652Lys)
c.1912G>A (p.Glu638Lys)
c.1679+6153G>A (n.1679+6153G>A)
c.2008G>A (p.Glu670Lys)
c.2074G>A (p.Glu692Lys)
c.2071G>A (p.Glu691Lys)
c.2044G>A (p.Glu682Lys)
c.1963G>A (p.Glu655Lys)
c.1948G>A (p.Glu650Lys)
c.1555G>A (p.Glu519Lys)
c.2017G>A (p.Glu673Lys)
c.1951G>A (p.Glu651Lys)
c.1909G>A (p.Glu637Lys)
c.982G>A (p.Glu328Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407298G>ACA9958186KCNQ2c.2019C>T (p.Thr673=)
c.1965C>T (p.Thr655=)
c.1362C>T (p.Thr454=)
c.1872C>T (p.Thr624=)
c.1533C>T (p.Thr511=)
c.1881C>T (p.Thr627=)
c.1989C>T (p.Thr663=)
c.1953C>T (p.Thr651=)
c.1911C>T (p.Thr637=)
c.1679+6152C>T (n.1679+6152C>T)
c.2007C>T (p.Thr669=)
c.2073C>T (p.Thr691=)
c.2070C>T (p.Thr690=)
c.2043C>T (p.Thr681=)
c.1962C>T (p.Thr654=)
c.1947C>T (p.Thr649=)
c.1554C>T (p.Thr518=)
c.2016C>T (p.Thr672=)
c.1950C>T (p.Thr650=)
c.1908C>T (p.Thr636=)
c.981C>T (p.Thr327=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407298G>CCA511339553KCNQ2c.2019C>G (p.Thr673=)
c.1965C>G (p.Thr655=)
c.1362C>G (p.Thr454=)
c.1872C>G (p.Thr624=)
c.1533C>G (p.Thr511=)
c.1881C>G (p.Thr627=)
c.1989C>G (p.Thr663=)
c.1953C>G (p.Thr651=)
c.1911C>G (p.Thr637=)
c.1679+6152C>G (n.1679+6152C>G)
c.2007C>G (p.Thr669=)
c.2073C>G (p.Thr691=)
c.2070C>G (p.Thr690=)
c.2043C>G (p.Thr681=)
c.1962C>G (p.Thr654=)
c.1947C>G (p.Thr649=)
c.1554C>G (p.Thr518=)
c.2016C>G (p.Thr672=)
c.1950C>G (p.Thr650=)
c.1908C>G (p.Thr636=)
c.981C>G (p.Thr327=)
 dbSNP
20g.63407298G=CA2374774534KCNQ2c.2019C= (p.Thr673=)
c.1965C= (p.Thr655=)
c.1362C= (p.Thr454=)
c.1872C= (p.Thr624=)
c.1533C= (p.Thr511=)
c.1881C= (p.Thr627=)
c.1989C= (p.Thr663=)
c.1953C= (p.Thr651=)
c.1911C= (p.Thr637=)
c.1679+6152C= (n.1679+6152C=)
c.2007C= (p.Thr669=)
c.2073C= (p.Thr691=)
c.2070C= (p.Thr690=)
c.2043C= (p.Thr681=)
c.1962C= (p.Thr654=)
c.1947C= (p.Thr649=)
c.1554C= (p.Thr518=)
c.2016C= (p.Thr672=)
c.1950C= (p.Thr650=)
c.1908C= (p.Thr636=)
c.981C= (p.Thr327=)
20g.63407298G>TCA511339554KCNQ2c.2019C>A (p.Thr673=)
c.1965C>A (p.Thr655=)
c.1362C>A (p.Thr454=)
c.1872C>A (p.Thr624=)
c.1533C>A (p.Thr511=)
c.1881C>A (p.Thr627=)
c.1989C>A (p.Thr663=)
c.1953C>A (p.Thr651=)
c.1911C>A (p.Thr637=)
c.1679+6152C>A (n.1679+6152C>A)
c.2007C>A (p.Thr669=)
c.2073C>A (p.Thr691=)
c.2070C>A (p.Thr690=)
c.2043C>A (p.Thr681=)
c.1962C>A (p.Thr654=)
c.1947C>A (p.Thr649=)
c.1554C>A (p.Thr518=)
c.2016C>A (p.Thr672=)
c.1950C>A (p.Thr650=)
c.1908C>A (p.Thr636=)
c.981C>A (p.Thr327=)
20g.63407299G>ACA409639322KCNQ2c.2018C>T (p.Thr673Ile)
c.1964C>T (p.Thr655Ile)
c.1361C>T (p.Thr454Ile)
c.1871C>T (p.Thr624Ile)
c.1532C>T (p.Thr511Ile)
c.1880C>T (p.Thr627Ile)
c.1988C>T (p.Thr663Ile)
c.1952C>T (p.Thr651Ile)
c.1910C>T (p.Thr637Ile)
c.1679+6151C>T (n.1679+6151C>T)
c.2006C>T (p.Thr669Ile)
c.2072C>T (p.Thr691Ile)
c.2069C>T (p.Thr690Ile)
c.2042C>T (p.Thr681Ile)
c.1961C>T (p.Thr654Ile)
c.1946C>T (p.Thr649Ile)
c.1553C>T (p.Thr518Ile)
c.2015C>T (p.Thr672Ile)
c.1949C>T (p.Thr650Ile)
c.1907C>T (p.Thr636Ile)
c.980C>T (p.Thr327Ile)
 dbSNP
20g.63407299G>CCA409639324KCNQ2c.2018C>G (p.Thr673Ser)
c.1964C>G (p.Thr655Ser)
c.1361C>G (p.Thr454Ser)
c.1871C>G (p.Thr624Ser)
c.1532C>G (p.Thr511Ser)
c.1880C>G (p.Thr627Ser)
c.1988C>G (p.Thr663Ser)
c.1952C>G (p.Thr651Ser)
c.1910C>G (p.Thr637Ser)
c.1679+6151C>G (n.1679+6151C>G)
c.2006C>G (p.Thr669Ser)
c.2072C>G (p.Thr691Ser)
c.2069C>G (p.Thr690Ser)
c.2042C>G (p.Thr681Ser)
c.1961C>G (p.Thr654Ser)
c.1946C>G (p.Thr649Ser)
c.1553C>G (p.Thr518Ser)
c.2015C>G (p.Thr672Ser)
c.1949C>G (p.Thr650Ser)
c.1907C>G (p.Thr636Ser)
c.980C>G (p.Thr327Ser)
20g.63407299G=CA2374774535KCNQ2c.2018C= (p.Thr673=)
c.1964C= (p.Thr655=)
c.1361C= (p.Thr454=)
c.1871C= (p.Thr624=)
c.1532C= (p.Thr511=)
c.1880C= (p.Thr627=)
c.1988C= (p.Thr663=)
c.1952C= (p.Thr651=)
c.1910C= (p.Thr637=)
c.1679+6151C= (n.1679+6151C=)
c.2006C= (p.Thr669=)
c.2072C= (p.Thr691=)
c.2069C= (p.Thr690=)
c.2042C= (p.Thr681=)
c.1961C= (p.Thr654=)
c.1946C= (p.Thr649=)
c.1553C= (p.Thr518=)
c.2015C= (p.Thr672=)
c.1949C= (p.Thr650=)
c.1907C= (p.Thr636=)
c.980C= (p.Thr327=)
20g.63407299G>TCA409639323KCNQ2c.2018C>A (p.Thr673Asn)
c.1964C>A (p.Thr655Asn)
c.1361C>A (p.Thr454Asn)
c.1871C>A (p.Thr624Asn)
c.1532C>A (p.Thr511Asn)
c.1880C>A (p.Thr627Asn)
c.1988C>A (p.Thr663Asn)
c.1952C>A (p.Thr651Asn)
c.1910C>A (p.Thr637Asn)
c.1679+6151C>A (n.1679+6151C>A)
c.2006C>A (p.Thr669Asn)
c.2072C>A (p.Thr691Asn)
c.2069C>A (p.Thr690Asn)
c.2042C>A (p.Thr681Asn)
c.1961C>A (p.Thr654Asn)
c.1946C>A (p.Thr649Asn)
c.1553C>A (p.Thr518Asn)
c.2015C>A (p.Thr672Asn)
c.1949C>A (p.Thr650Asn)
c.1907C>A (p.Thr636Asn)
c.980C>A (p.Thr327Asn)
 ClinVar dbSNP gnomAD v4
20g.63407300T>ACA409639325KCNQ2c.2017A>T (p.Thr673Ser)
c.1963A>T (p.Thr655Ser)
c.1360A>T (p.Thr454Ser)
c.1870A>T (p.Thr624Ser)
c.1531A>T (p.Thr511Ser)
c.1879A>T (p.Thr627Ser)
c.1987A>T (p.Thr663Ser)
c.1951A>T (p.Thr651Ser)
c.1909A>T (p.Thr637Ser)
c.1679+6150A>T (n.1679+6150A>T)
c.2005A>T (p.Thr669Ser)
c.2071A>T (p.Thr691Ser)
c.2068A>T (p.Thr690Ser)
c.2041A>T (p.Thr681Ser)
c.1960A>T (p.Thr654Ser)
c.1945A>T (p.Thr649Ser)
c.1552A>T (p.Thr518Ser)
c.2014A>T (p.Thr672Ser)
c.1948A>T (p.Thr650Ser)
c.1906A>T (p.Thr636Ser)
c.979A>T (p.Thr327Ser)
20g.63407300T>CCA409639326KCNQ2c.2017A>G (p.Thr673Ala)
c.1963A>G (p.Thr655Ala)
c.1360A>G (p.Thr454Ala)
c.1870A>G (p.Thr624Ala)
c.1531A>G (p.Thr511Ala)
c.1879A>G (p.Thr627Ala)
c.1987A>G (p.Thr663Ala)
c.1951A>G (p.Thr651Ala)
c.1909A>G (p.Thr637Ala)
c.1679+6150A>G (n.1679+6150A>G)
c.2005A>G (p.Thr669Ala)
c.2071A>G (p.Thr691Ala)
c.2068A>G (p.Thr690Ala)
c.2041A>G (p.Thr681Ala)
c.1960A>G (p.Thr654Ala)
c.1945A>G (p.Thr649Ala)
c.1552A>G (p.Thr518Ala)
c.2014A>G (p.Thr672Ala)
c.1948A>G (p.Thr650Ala)
c.1906A>G (p.Thr636Ala)
c.979A>G (p.Thr327Ala)
 ClinVar
20g.63407300T>GCA409639327KCNQ2c.2017A>C (p.Thr673Pro)
c.1963A>C (p.Thr655Pro)
c.1360A>C (p.Thr454Pro)
c.1870A>C (p.Thr624Pro)
c.1531A>C (p.Thr511Pro)
c.1879A>C (p.Thr627Pro)
c.1987A>C (p.Thr663Pro)
c.1951A>C (p.Thr651Pro)
c.1909A>C (p.Thr637Pro)
c.1679+6150A>C (n.1679+6150A>C)
c.2005A>C (p.Thr669Pro)
c.2071A>C (p.Thr691Pro)
c.2068A>C (p.Thr690Pro)
c.2041A>C (p.Thr681Pro)
c.1960A>C (p.Thr654Pro)
c.1945A>C (p.Thr649Pro)
c.1552A>C (p.Thr518Pro)
c.2014A>C (p.Thr672Pro)
c.1948A>C (p.Thr650Pro)
c.1906A>C (p.Thr636Pro)
c.979A>C (p.Thr327Pro)
20g.63407303_63407304delCA2580616359KCNQ2c.2016_2017del (p.Glu672AspfsTer?)
c.1962_1963del (p.Glu654AspfsTer?)
c.1359_1360del (p.Glu453AspfsTer?)
c.1869_1870del (p.Glu623AspfsTer?)
c.1530_1531del (p.Glu510AspfsTer?)
c.1878_1879del (p.Glu626AspfsTer?)
c.1986_1987del (p.Glu662AspfsTer?)
c.1950_1951del (p.Glu650AspfsTer?)
c.1908_1909del (p.Glu636AspfsTer?)
c.1679+6149_1679+6150del (n.1679+6149_1679+6150del)
c.2004_2005del (p.Glu668AspfsTer?)
c.2070_2071del (p.Glu690AspfsTer?)
c.2067_2068del (p.Glu689AspfsTer?)
c.2040_2041del (p.Glu680AspfsTer?)
c.1959_1960del (p.Glu653AspfsTer?)
c.1944_1945del (p.Glu648AspfsTer?)
c.1551_1552del (p.Glu517AspfsTer?)
c.2013_2014del (p.Glu671AspfsTer?)
c.1947_1948del (p.Glu649AspfsTer?)
c.1905_1906del (p.Glu635AspfsTer?)
c.978_979del (p.Glu326AspfsTer?)
 ClinVar
20g.63407301C>ACA409639328KCNQ2c.2016G>T (p.Glu672Asp)
c.1962G>T (p.Glu654Asp)
c.1359G>T (p.Glu453Asp)
c.1869G>T (p.Glu623Asp)
c.1530G>T (p.Glu510Asp)
c.1878G>T (p.Glu626Asp)
c.1986G>T (p.Glu662Asp)
c.1950G>T (p.Glu650Asp)
c.1908G>T (p.Glu636Asp)
c.1679+6149G>T (n.1679+6149G>T)
c.2004G>T (p.Glu668Asp)
c.2070G>T (p.Glu690Asp)
c.2067G>T (p.Glu689Asp)
c.2040G>T (p.Glu680Asp)
c.1959G>T (p.Glu653Asp)
c.1944G>T (p.Glu648Asp)
c.1551G>T (p.Glu517Asp)
c.2013G>T (p.Glu671Asp)
c.1947G>T (p.Glu649Asp)
c.1905G>T (p.Glu635Asp)
c.978G>T (p.Glu326Asp)
20g.63407301C>GCA409639329KCNQ2c.2016G>C (p.Glu672Asp)
c.1962G>C (p.Glu654Asp)
c.1359G>C (p.Glu453Asp)
c.1869G>C (p.Glu623Asp)
c.1530G>C (p.Glu510Asp)
c.1878G>C (p.Glu626Asp)
c.1986G>C (p.Glu662Asp)
c.1950G>C (p.Glu650Asp)
c.1908G>C (p.Glu636Asp)
c.1679+6149G>C (n.1679+6149G>C)
c.2004G>C (p.Glu668Asp)
c.2070G>C (p.Glu690Asp)
c.2067G>C (p.Glu689Asp)
c.2040G>C (p.Glu680Asp)
c.1959G>C (p.Glu653Asp)
c.1944G>C (p.Glu648Asp)
c.1551G>C (p.Glu517Asp)
c.2013G>C (p.Glu671Asp)
c.1947G>C (p.Glu649Asp)
c.1905G>C (p.Glu635Asp)
c.978G>C (p.Glu326Asp)
 gnomAD v4
20g.63407301C>TCA511339555KCNQ2c.2016G>A (p.Glu672=)
c.1962G>A (p.Glu654=)
c.1359G>A (p.Glu453=)
c.1869G>A (p.Glu623=)
c.1530G>A (p.Glu510=)
c.1878G>A (p.Glu626=)
c.1986G>A (p.Glu662=)
c.1950G>A (p.Glu650=)
c.1908G>A (p.Glu636=)
c.1679+6149G>A (n.1679+6149G>A)
c.2004G>A (p.Glu668=)
c.2070G>A (p.Glu690=)
c.2067G>A (p.Glu689=)
c.2040G>A (p.Glu680=)
c.1959G>A (p.Glu653=)
c.1944G>A (p.Glu648=)
c.1551G>A (p.Glu517=)
c.2013G>A (p.Glu671=)
c.1947G>A (p.Glu649=)
c.1905G>A (p.Glu635=)
c.978G>A (p.Glu326=)
 COSMIC COSMIC COSMIC
20g.63407302T>ACA409639330KCNQ2c.2015A>T (p.Glu672Val)
c.1961A>T (p.Glu654Val)
c.1358A>T (p.Glu453Val)
c.1868A>T (p.Glu623Val)
c.1529A>T (p.Glu510Val)
c.1877A>T (p.Glu626Val)
c.1985A>T (p.Glu662Val)
c.1949A>T (p.Glu650Val)
c.1907A>T (p.Glu636Val)
c.1679+6148A>T (n.1679+6148A>T)
c.2003A>T (p.Glu668Val)
c.2069A>T (p.Glu690Val)
c.2066A>T (p.Glu689Val)
c.2039A>T (p.Glu680Val)
c.1958A>T (p.Glu653Val)
c.1943A>T (p.Glu648Val)
c.1550A>T (p.Glu517Val)
c.2012A>T (p.Glu671Val)
c.1946A>T (p.Glu649Val)
c.1904A>T (p.Glu635Val)
c.977A>T (p.Glu326Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63407302T>CCA409639331KCNQ2c.2015A>G (p.Glu672Gly)
c.1961A>G (p.Glu654Gly)
c.1358A>G (p.Glu453Gly)
c.1868A>G (p.Glu623Gly)
c.1529A>G (p.Glu510Gly)
c.1877A>G (p.Glu626Gly)
c.1985A>G (p.Glu662Gly)
c.1949A>G (p.Glu650Gly)
c.1907A>G (p.Glu636Gly)
c.1679+6148A>G (n.1679+6148A>G)
c.2003A>G (p.Glu668Gly)
c.2069A>G (p.Glu690Gly)
c.2066A>G (p.Glu689Gly)
c.2039A>G (p.Glu680Gly)
c.1958A>G (p.Glu653Gly)
c.1943A>G (p.Glu648Gly)
c.1550A>G (p.Glu517Gly)
c.2012A>G (p.Glu671Gly)
c.1946A>G (p.Glu649Gly)
c.1904A>G (p.Glu635Gly)
c.977A>G (p.Glu326Gly)
20g.63407302T>GCA409639332KCNQ2c.2015A>C (p.Glu672Ala)
c.1961A>C (p.Glu654Ala)
c.1358A>C (p.Glu453Ala)
c.1868A>C (p.Glu623Ala)
c.1529A>C (p.Glu510Ala)
c.1877A>C (p.Glu626Ala)
c.1985A>C (p.Glu662Ala)
c.1949A>C (p.Glu650Ala)
c.1907A>C (p.Glu636Ala)
c.1679+6148A>C (n.1679+6148A>C)
c.2003A>C (p.Glu668Ala)
c.2069A>C (p.Glu690Ala)
c.2066A>C (p.Glu689Ala)
c.2039A>C (p.Glu680Ala)
c.1958A>C (p.Glu653Ala)
c.1943A>C (p.Glu648Ala)
c.1550A>C (p.Glu517Ala)
c.2012A>C (p.Glu671Ala)
c.1946A>C (p.Glu649Ala)
c.1904A>C (p.Glu635Ala)
c.977A>C (p.Glu326Ala)
20g.63407302T=CA2374774536KCNQ2c.2015A= (p.Glu672=)
c.1961A= (p.Glu654=)
c.1358A= (p.Glu453=)
c.1868A= (p.Glu623=)
c.1529A= (p.Glu510=)
c.1877A= (p.Glu626=)
c.1985A= (p.Glu662=)
c.1949A= (p.Glu650=)
c.1907A= (p.Glu636=)
c.1679+6148A= (n.1679+6148A=)
c.2003A= (p.Glu668=)
c.2069A= (p.Glu690=)
c.2066A= (p.Glu689=)
c.2039A= (p.Glu680=)
c.1958A= (p.Glu653=)
c.1943A= (p.Glu648=)
c.1550A= (p.Glu517=)
c.2012A= (p.Glu671=)
c.1946A= (p.Glu649=)
c.1904A= (p.Glu635=)
c.977A= (p.Glu326=)
20g.63407303C>ACA409639333KCNQ2c.2014G>T (p.Glu672Ter)
c.1960G>T (p.Glu654Ter)
c.1357G>T (p.Glu453Ter)
c.1867G>T (p.Glu623Ter)
c.1528G>T (p.Glu510Ter)
c.1876G>T (p.Glu626Ter)
c.1984G>T (p.Glu662Ter)
c.1948G>T (p.Glu650Ter)
c.1906G>T (p.Glu636Ter)
c.1679+6147G>T (n.1679+6147G>T)
c.2002G>T (p.Glu668Ter)
c.2068G>T (p.Glu690Ter)
c.2065G>T (p.Glu689Ter)
c.2038G>T (p.Glu680Ter)
c.1957G>T (p.Glu653Ter)
c.1942G>T (p.Glu648Ter)
c.1549G>T (p.Glu517Ter)
c.2011G>T (p.Glu671Ter)
c.1945G>T (p.Glu649Ter)
c.1903G>T (p.Glu635Ter)
c.976G>T (p.Glu326Ter)
20g.63407303C>GCA409639334KCNQ2c.2014G>C (p.Glu672Gln)
c.1960G>C (p.Glu654Gln)
c.1357G>C (p.Glu453Gln)
c.1867G>C (p.Glu623Gln)
c.1528G>C (p.Glu510Gln)
c.1876G>C (p.Glu626Gln)
c.1984G>C (p.Glu662Gln)
c.1948G>C (p.Glu650Gln)
c.1906G>C (p.Glu636Gln)
c.1679+6147G>C (n.1679+6147G>C)
c.2002G>C (p.Glu668Gln)
c.2068G>C (p.Glu690Gln)
c.2065G>C (p.Glu689Gln)
c.2038G>C (p.Glu680Gln)
c.1957G>C (p.Glu653Gln)
c.1942G>C (p.Glu648Gln)
c.1549G>C (p.Glu517Gln)
c.2011G>C (p.Glu671Gln)
c.1945G>C (p.Glu649Gln)
c.1903G>C (p.Glu635Gln)
c.976G>C (p.Glu326Gln)
20g.63407303C>TCA409639335KCNQ2c.2014G>A (p.Glu672Lys)
c.1960G>A (p.Glu654Lys)
c.1357G>A (p.Glu453Lys)
c.1867G>A (p.Glu623Lys)
c.1528G>A (p.Glu510Lys)
c.1876G>A (p.Glu626Lys)
c.1984G>A (p.Glu662Lys)
c.1948G>A (p.Glu650Lys)
c.1906G>A (p.Glu636Lys)
c.1679+6147G>A (n.1679+6147G>A)
c.2002G>A (p.Glu668Lys)
c.2068G>A (p.Glu690Lys)
c.2065G>A (p.Glu689Lys)
c.2038G>A (p.Glu680Lys)
c.1957G>A (p.Glu653Lys)
c.1942G>A (p.Glu648Lys)
c.1549G>A (p.Glu517Lys)
c.2011G>A (p.Glu671Lys)
c.1945G>A (p.Glu649Lys)
c.1903G>A (p.Glu635Lys)
c.976G>A (p.Glu326Lys)
20g.63407304T>ACA511339556KCNQ2c.2013A>T (p.Thr671=)
c.1959A>T (p.Thr653=)
c.1356A>T (p.Thr452=)
c.1866A>T (p.Thr622=)
c.1527A>T (p.Thr509=)
c.1875A>T (p.Thr625=)
c.1983A>T (p.Thr661=)
c.1947A>T (p.Thr649=)
c.1905A>T (p.Thr635=)
c.1679+6146A>T (n.1679+6146A>T)
c.2001A>T (p.Thr667=)
c.2067A>T (p.Thr689=)
c.2064A>T (p.Thr688=)
c.2037A>T (p.Thr679=)
c.1956A>T (p.Thr652=)
c.1941A>T (p.Thr647=)
c.1548A>T (p.Thr516=)
c.2010A>T (p.Thr670=)
c.1944A>T (p.Thr648=)
c.1902A>T (p.Thr634=)
c.975A>T (p.Thr325=)
20g.63407304T>CCA9958187KCNQ2c.2013A>G (p.Thr671=)
c.1959A>G (p.Thr653=)
c.1356A>G (p.Thr452=)
c.1866A>G (p.Thr622=)
c.1527A>G (p.Thr509=)
c.1875A>G (p.Thr625=)
c.1983A>G (p.Thr661=)
c.1947A>G (p.Thr649=)
c.1905A>G (p.Thr635=)
c.1679+6146A>G (n.1679+6146A>G)
c.2001A>G (p.Thr667=)
c.2067A>G (p.Thr689=)
c.2064A>G (p.Thr688=)
c.2037A>G (p.Thr679=)
c.1956A>G (p.Thr652=)
c.1941A>G (p.Thr647=)
c.1548A>G (p.Thr516=)
c.2010A>G (p.Thr670=)
c.1944A>G (p.Thr648=)
c.1902A>G (p.Thr634=)
c.975A>G (p.Thr325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407304T>GCA511339557KCNQ2c.2013A>C (p.Thr671=)
c.1959A>C (p.Thr653=)
c.1356A>C (p.Thr452=)
c.1866A>C (p.Thr622=)
c.1527A>C (p.Thr509=)
c.1875A>C (p.Thr625=)
c.1983A>C (p.Thr661=)
c.1947A>C (p.Thr649=)
c.1905A>C (p.Thr635=)
c.1679+6146A>C (n.1679+6146A>C)
c.2001A>C (p.Thr667=)
c.2067A>C (p.Thr689=)
c.2064A>C (p.Thr688=)
c.2037A>C (p.Thr679=)
c.1956A>C (p.Thr652=)
c.1941A>C (p.Thr647=)
c.1548A>C (p.Thr516=)
c.2010A>C (p.Thr670=)
c.1944A>C (p.Thr648=)
c.1902A>C (p.Thr634=)
c.975A>C (p.Thr325=)
20g.63407304T=CA2374774537KCNQ2c.2013A= (p.Thr671=)
c.1959A= (p.Thr653=)
c.1356A= (p.Thr452=)
c.1866A= (p.Thr622=)
c.1527A= (p.Thr509=)
c.1875A= (p.Thr625=)
c.1983A= (p.Thr661=)
c.1947A= (p.Thr649=)
c.1905A= (p.Thr635=)
c.1679+6146A= (n.1679+6146A=)
c.2001A= (p.Thr667=)
c.2067A= (p.Thr689=)
c.2064A= (p.Thr688=)
c.2037A= (p.Thr679=)
c.1956A= (p.Thr652=)
c.1941A= (p.Thr647=)
c.1548A= (p.Thr516=)
c.2010A= (p.Thr670=)
c.1944A= (p.Thr648=)
c.1902A= (p.Thr634=)
c.975A= (p.Thr325=)
20g.63407305G>ACA409639338KCNQ2c.2012C>T (p.Thr671Ile)
c.1958C>T (p.Thr653Ile)
c.1355C>T (p.Thr452Ile)
c.1865C>T (p.Thr622Ile)
c.1526C>T (p.Thr509Ile)
c.1874C>T (p.Thr625Ile)
c.1982C>T (p.Thr661Ile)
c.1946C>T (p.Thr649Ile)
c.1904C>T (p.Thr635Ile)
c.1679+6145C>T (n.1679+6145C>T)
c.2000C>T (p.Thr667Ile)
c.2066C>T (p.Thr689Ile)
c.2063C>T (p.Thr688Ile)
c.2036C>T (p.Thr679Ile)
c.1955C>T (p.Thr652Ile)
c.1940C>T (p.Thr647Ile)
c.1547C>T (p.Thr516Ile)
c.2009C>T (p.Thr670Ile)
c.1943C>T (p.Thr648Ile)
c.1901C>T (p.Thr634Ile)
c.974C>T (p.Thr325Ile)
20g.63407305G>CCA409639336KCNQ2c.2012C>G (p.Thr671Arg)
c.1958C>G (p.Thr653Arg)
c.1355C>G (p.Thr452Arg)
c.1865C>G (p.Thr622Arg)
c.1526C>G (p.Thr509Arg)
c.1874C>G (p.Thr625Arg)
c.1982C>G (p.Thr661Arg)
c.1946C>G (p.Thr649Arg)
c.1904C>G (p.Thr635Arg)
c.1679+6145C>G (n.1679+6145C>G)
c.2000C>G (p.Thr667Arg)
c.2066C>G (p.Thr689Arg)
c.2063C>G (p.Thr688Arg)
c.2036C>G (p.Thr679Arg)
c.1955C>G (p.Thr652Arg)
c.1940C>G (p.Thr647Arg)
c.1547C>G (p.Thr516Arg)
c.2009C>G (p.Thr670Arg)
c.1943C>G (p.Thr648Arg)
c.1901C>G (p.Thr634Arg)
c.974C>G (p.Thr325Arg)
 ClinVar
20g.63407305G>TCA409639337KCNQ2c.2012C>A (p.Thr671Lys)
c.1958C>A (p.Thr653Lys)
c.1355C>A (p.Thr452Lys)
c.1865C>A (p.Thr622Lys)
c.1526C>A (p.Thr509Lys)
c.1874C>A (p.Thr625Lys)
c.1982C>A (p.Thr661Lys)
c.1946C>A (p.Thr649Lys)
c.1904C>A (p.Thr635Lys)
c.1679+6145C>A (n.1679+6145C>A)
c.2000C>A (p.Thr667Lys)
c.2066C>A (p.Thr689Lys)
c.2063C>A (p.Thr688Lys)
c.2036C>A (p.Thr679Lys)
c.1955C>A (p.Thr652Lys)
c.1940C>A (p.Thr647Lys)
c.1547C>A (p.Thr516Lys)
c.2009C>A (p.Thr670Lys)
c.1943C>A (p.Thr648Lys)
c.1901C>A (p.Thr634Lys)
c.974C>A (p.Thr325Lys)
20g.63407306T>ACA409639339KCNQ2c.2011A>T (p.Thr671Ser)
c.1957A>T (p.Thr653Ser)
c.1354A>T (p.Thr452Ser)
c.1864A>T (p.Thr622Ser)
c.1525A>T (p.Thr509Ser)
c.1873A>T (p.Thr625Ser)
c.1981A>T (p.Thr661Ser)
c.1945A>T (p.Thr649Ser)
c.1903A>T (p.Thr635Ser)
c.1679+6144A>T (n.1679+6144A>T)
c.1999A>T (p.Thr667Ser)
c.2065A>T (p.Thr689Ser)
c.2062A>T (p.Thr688Ser)
c.2035A>T (p.Thr679Ser)
c.1954A>T (p.Thr652Ser)
c.1939A>T (p.Thr647Ser)
c.1546A>T (p.Thr516Ser)
c.2008A>T (p.Thr670Ser)
c.1942A>T (p.Thr648Ser)
c.1900A>T (p.Thr634Ser)
c.973A>T (p.Thr325Ser)
20g.63407306T>CCA409639340KCNQ2c.2011A>G (p.Thr671Ala)
c.1957A>G (p.Thr653Ala)
c.1354A>G (p.Thr452Ala)
c.1864A>G (p.Thr622Ala)
c.1525A>G (p.Thr509Ala)
c.1873A>G (p.Thr625Ala)
c.1981A>G (p.Thr661Ala)
c.1945A>G (p.Thr649Ala)
c.1903A>G (p.Thr635Ala)
c.1679+6144A>G (n.1679+6144A>G)
c.1999A>G (p.Thr667Ala)
c.2065A>G (p.Thr689Ala)
c.2062A>G (p.Thr688Ala)
c.2035A>G (p.Thr679Ala)
c.1954A>G (p.Thr652Ala)
c.1939A>G (p.Thr647Ala)
c.1546A>G (p.Thr516Ala)
c.2008A>G (p.Thr670Ala)
c.1942A>G (p.Thr648Ala)
c.1900A>G (p.Thr634Ala)
c.973A>G (p.Thr325Ala)
20g.63407306T>GCA409639341KCNQ2c.2011A>C (p.Thr671Pro)
c.1957A>C (p.Thr653Pro)
c.1354A>C (p.Thr452Pro)
c.1864A>C (p.Thr622Pro)
c.1525A>C (p.Thr509Pro)
c.1873A>C (p.Thr625Pro)
c.1981A>C (p.Thr661Pro)
c.1945A>C (p.Thr649Pro)
c.1903A>C (p.Thr635Pro)
c.1679+6144A>C (n.1679+6144A>C)
c.1999A>C (p.Thr667Pro)
c.2065A>C (p.Thr689Pro)
c.2062A>C (p.Thr688Pro)
c.2035A>C (p.Thr679Pro)
c.1954A>C (p.Thr652Pro)
c.1939A>C (p.Thr647Pro)
c.1546A>C (p.Thr516Pro)
c.2008A>C (p.Thr670Pro)
c.1942A>C (p.Thr648Pro)
c.1900A>C (p.Thr634Pro)
c.973A>C (p.Thr325Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407306T=CA2374774539KCNQ2c.2011A= (p.Thr671=)
c.1957A= (p.Thr653=)
c.1354A= (p.Thr452=)
c.1864A= (p.Thr622=)
c.1525A= (p.Thr509=)
c.1873A= (p.Thr625=)
c.1981A= (p.Thr661=)
c.1945A= (p.Thr649=)
c.1903A= (p.Thr635=)
c.1679+6144A= (n.1679+6144A=)
c.1999A= (p.Thr667=)
c.2065A= (p.Thr689=)
c.2062A= (p.Thr688=)
c.2035A= (p.Thr679=)
c.1954A= (p.Thr652=)
c.1939A= (p.Thr647=)
c.1546A= (p.Thr516=)
c.2008A= (p.Thr670=)
c.1942A= (p.Thr648=)
c.1900A= (p.Thr634=)
c.973A= (p.Thr325=)
20g.63407306_63407307delinsTCCA2374774538KCNQ2c.2010_2011delinsGA (p.Pro670=)
c.1956_1957delinsGA (p.Pro652=)
c.1353_1354delinsGA (p.Pro451=)
c.1863_1864delinsGA (p.Pro621=)
c.1524_1525delinsGA (p.Pro508=)
c.1872_1873delinsGA (p.Pro624=)
c.1980_1981delinsGA (p.Pro660=)
c.1944_1945delinsGA (p.Pro648=)
c.1902_1903delinsGA (p.Pro634=)
c.1679+6143_1679+6144delinsGA (n.1679+6143_1679+6144delinsGA)
c.1998_1999delinsGA (p.Pro666=)
c.2064_2065delinsGA (p.Pro688=)
c.2061_2062delinsGA (p.Pro687=)
c.2034_2035delinsGA (p.Pro678=)
c.1953_1954delinsGA (p.Pro651=)
c.1938_1939delinsGA (p.Pro646=)
c.1545_1546delinsGA (p.Pro515=)
c.2007_2008delinsGA (p.Pro669=)
c.1941_1942delinsGA (p.Pro647=)
c.1899_1900delinsGA (p.Pro633=)
c.972_973delinsGA (p.Pro324=)
20g.63407307delCA342483KCNQ2c.2010del (p.Thr671GlnfsTer?)
c.1956del (p.Thr653GlnfsTer?)
c.1353del (p.Thr452GlnfsTer?)
c.1863del (p.Thr622GlnfsTer?)
c.1524del (p.Thr509GlnfsTer?)
c.1872del (p.Thr625GlnfsTer?)
c.1980del (p.Thr661GlnfsTer?)
c.1944del (p.Thr649GlnfsTer?)
c.1902del (p.Thr635GlnfsTer?)
c.1679+6143del (n.1679+6143del)
c.1998del (p.Thr667GlnfsTer?)
c.2064del (p.Thr689GlnfsTer?)
c.2061del (p.Thr688GlnfsTer?)
c.2034del (p.Thr679GlnfsTer?)
c.1953del (p.Thr652GlnfsTer?)
c.1938del (p.Thr647GlnfsTer?)
c.1545del (p.Thr516GlnfsTer?)
c.2007del (p.Thr670GlnfsTer?)
c.1941del (p.Thr648GlnfsTer?)
c.1899del (p.Thr634GlnfsTer?)
c.972del (p.Thr325GlnfsTer?)
 ClinVar dbSNP
20g.63407307C>ACA511339560KCNQ2c.2010G>T (p.Pro670=)
c.1956G>T (p.Pro652=)
c.1353G>T (p.Pro451=)
c.1863G>T (p.Pro621=)
c.1524G>T (p.Pro508=)
c.1872G>T (p.Pro624=)
c.1980G>T (p.Pro660=)
c.1944G>T (p.Pro648=)
c.1902G>T (p.Pro634=)
c.1679+6143G>T (n.1679+6143G>T)
c.1998G>T (p.Pro666=)
c.2064G>T (p.Pro688=)
c.2061G>T (p.Pro687=)
c.2034G>T (p.Pro678=)
c.1953G>T (p.Pro651=)
c.1938G>T (p.Pro646=)
c.1545G>T (p.Pro515=)
c.2007G>T (p.Pro669=)
c.1941G>T (p.Pro647=)
c.1899G>T (p.Pro633=)
c.972G>T (p.Pro324=)
20g.63407307C=CA2374774540KCNQ2c.2010G= (p.Pro670=)
c.1956G= (p.Pro652=)
c.1353G= (p.Pro451=)
c.1863G= (p.Pro621=)
c.1524G= (p.Pro508=)
c.1872G= (p.Pro624=)
c.1980G= (p.Pro660=)
c.1944G= (p.Pro648=)
c.1902G= (p.Pro634=)
c.1679+6143G= (n.1679+6143G=)
c.1998G= (p.Pro666=)
c.2064G= (p.Pro688=)
c.2061G= (p.Pro687=)
c.2034G= (p.Pro678=)
c.1953G= (p.Pro651=)
c.1938G= (p.Pro646=)
c.1545G= (p.Pro515=)
c.2007G= (p.Pro669=)
c.1941G= (p.Pro647=)
c.1899G= (p.Pro633=)
c.972G= (p.Pro324=)
20g.63407307C>GCA511339561KCNQ2c.2010G>C (p.Pro670=)
c.1956G>C (p.Pro652=)
c.1353G>C (p.Pro451=)
c.1863G>C (p.Pro621=)
c.1524G>C (p.Pro508=)
c.1872G>C (p.Pro624=)
c.1980G>C (p.Pro660=)
c.1944G>C (p.Pro648=)
c.1902G>C (p.Pro634=)
c.1679+6143G>C (n.1679+6143G>C)
c.1998G>C (p.Pro666=)
c.2064G>C (p.Pro688=)
c.2061G>C (p.Pro687=)
c.2034G>C (p.Pro678=)
c.1953G>C (p.Pro651=)
c.1938G>C (p.Pro646=)
c.1545G>C (p.Pro515=)
c.2007G>C (p.Pro669=)
c.1941G>C (p.Pro647=)
c.1899G>C (p.Pro633=)
c.972G>C (p.Pro324=)
20g.63407307C>TCA9958188KCNQ2c.2010G>A (p.Pro670=)
c.1956G>A (p.Pro652=)
c.1353G>A (p.Pro451=)
c.1863G>A (p.Pro621=)
c.1524G>A (p.Pro508=)
c.1872G>A (p.Pro624=)
c.1980G>A (p.Pro660=)
c.1944G>A (p.Pro648=)
c.1902G>A (p.Pro634=)
c.1679+6143G>A (n.1679+6143G>A)
c.1998G>A (p.Pro666=)
c.2064G>A (p.Pro688=)
c.2061G>A (p.Pro687=)
c.2034G>A (p.Pro678=)
c.1953G>A (p.Pro651=)
c.1938G>A (p.Pro646=)
c.1545G>A (p.Pro515=)
c.2007G>A (p.Pro669=)
c.1941G>A (p.Pro647=)
c.1899G>A (p.Pro633=)
c.972G>A (p.Pro324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407307dupCA915952959KCNQ2c.2010dup (p.Thr671AspfsTer?)
c.1956dup (p.Thr653AspfsTer?)
c.1353dup (p.Thr452AspfsTer?)
c.1863dup (p.Thr622AspfsTer?)
c.1524dup (p.Thr509AspfsTer?)
c.1872dup (p.Thr625AspfsTer?)
c.1980dup (p.Thr661AspfsTer?)
c.1944dup (p.Thr649AspfsTer?)
c.1902dup (p.Thr635AspfsTer?)
c.1679+6143dup (n.1679+6143dup)
c.1998dup (p.Thr667AspfsTer?)
c.2064dup (p.Thr689AspfsTer?)
c.2061dup (p.Thr688AspfsTer?)
c.2034dup (p.Thr679AspfsTer?)
c.1953dup (p.Thr652AspfsTer?)
c.1938dup (p.Thr647AspfsTer?)
c.1545dup (p.Thr516AspfsTer?)
c.2007dup (p.Thr670AspfsTer?)
c.1941dup (p.Thr648AspfsTer?)
c.1899dup (p.Thr634AspfsTer?)
c.972dup (p.Thr325AspfsTer?)
 ClinVar dbSNP
20g.63407308G>ACA090961KCNQ2c.2009C>T (p.Pro670Leu)
c.1955C>T (p.Pro652Leu)
c.1352C>T (p.Pro451Leu)
c.1862C>T (p.Pro621Leu)
c.1523C>T (p.Pro508Leu)
c.1871C>T (p.Pro624Leu)
c.1979C>T (p.Pro660Leu)
c.1943C>T (p.Pro648Leu)
c.1901C>T (p.Pro634Leu)
c.1679+6142C>T (n.1679+6142C>T)
c.1997C>T (p.Pro666Leu)
c.2063C>T (p.Pro688Leu)
c.2060C>T (p.Pro687Leu)
c.2033C>T (p.Pro678Leu)
c.1952C>T (p.Pro651Leu)
c.1937C>T (p.Pro646Leu)
c.1544C>T (p.Pro515Leu)
c.2006C>T (p.Pro669Leu)
c.1940C>T (p.Pro647Leu)
c.1898C>T (p.Pro633Leu)
c.971C>T (p.Pro324Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407308G>CCA9958189KCNQ2c.2009C>G (p.Pro670Arg)
c.1955C>G (p.Pro652Arg)
c.1352C>G (p.Pro451Arg)
c.1862C>G (p.Pro621Arg)
c.1523C>G (p.Pro508Arg)
c.1871C>G (p.Pro624Arg)
c.1979C>G (p.Pro660Arg)
c.1943C>G (p.Pro648Arg)
c.1901C>G (p.Pro634Arg)
c.1679+6142C>G (n.1679+6142C>G)
c.1997C>G (p.Pro666Arg)
c.2063C>G (p.Pro688Arg)
c.2060C>G (p.Pro687Arg)
c.2033C>G (p.Pro678Arg)
c.1952C>G (p.Pro651Arg)
c.1937C>G (p.Pro646Arg)
c.1544C>G (p.Pro515Arg)
c.2006C>G (p.Pro669Arg)
c.1940C>G (p.Pro647Arg)
c.1898C>G (p.Pro633Arg)
c.971C>G (p.Pro324Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407308G=CA2374774541KCNQ2c.2009C= (p.Pro670=)
c.1955C= (p.Pro652=)
c.1352C= (p.Pro451=)
c.1862C= (p.Pro621=)
c.1523C= (p.Pro508=)
c.1871C= (p.Pro624=)
c.1979C= (p.Pro660=)
c.1943C= (p.Pro648=)
c.1901C= (p.Pro634=)
c.1679+6142C= (n.1679+6142C=)
c.1997C= (p.Pro666=)
c.2063C= (p.Pro688=)
c.2060C= (p.Pro687=)
c.2033C= (p.Pro678=)
c.1952C= (p.Pro651=)
c.1937C= (p.Pro646=)
c.1544C= (p.Pro515=)
c.2006C= (p.Pro669=)
c.1940C= (p.Pro647=)
c.1898C= (p.Pro633=)
c.971C= (p.Pro324=)
20g.63407308G>TCA9958190KCNQ2c.2009C>A (p.Pro670Gln)
c.1955C>A (p.Pro652Gln)
c.1352C>A (p.Pro451Gln)
c.1862C>A (p.Pro621Gln)
c.1523C>A (p.Pro508Gln)
c.1871C>A (p.Pro624Gln)
c.1979C>A (p.Pro660Gln)
c.1943C>A (p.Pro648Gln)
c.1901C>A (p.Pro634Gln)
c.1679+6142C>A (n.1679+6142C>A)
c.1997C>A (p.Pro666Gln)
c.2063C>A (p.Pro688Gln)
c.2060C>A (p.Pro687Gln)
c.2033C>A (p.Pro678Gln)
c.1952C>A (p.Pro651Gln)
c.1937C>A (p.Pro646Gln)
c.1544C>A (p.Pro515Gln)
c.2006C>A (p.Pro669Gln)
c.1940C>A (p.Pro647Gln)
c.1898C>A (p.Pro633Gln)
c.971C>A (p.Pro324Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407313dupCA2653806166KCNQ2c.2009dup (p.Thr671AspfsTer?)
c.1955dup (p.Thr653AspfsTer?)
c.1352dup (p.Thr452AspfsTer?)
c.1862dup (p.Thr622AspfsTer?)
c.1523dup (p.Thr509AspfsTer?)
c.1871dup (p.Thr625AspfsTer?)
c.1979dup (p.Thr661AspfsTer?)
c.1943dup (p.Thr649AspfsTer?)
c.1901dup (p.Thr635AspfsTer?)
c.1679+6142dup (n.1679+6142dup)
c.1997dup (p.Thr667AspfsTer?)
c.2063dup (p.Thr689AspfsTer?)
c.2060dup (p.Thr688AspfsTer?)
c.2033dup (p.Thr679AspfsTer?)
c.1952dup (p.Thr652AspfsTer?)
c.1937dup (p.Thr647AspfsTer?)
c.1544dup (p.Thr516AspfsTer?)
c.2006dup (p.Thr670AspfsTer?)
c.1940dup (p.Thr648AspfsTer?)
c.1898dup (p.Thr634AspfsTer?)
c.971dup (p.Thr325AspfsTer?)
 ClinVar gnomAD v4
20g.63407313delCA645608744KCNQ2c.2009del (p.Pro670ArgfsTer?)
c.1955del (p.Pro652ArgfsTer?)
c.1352del (p.Pro451ArgfsTer?)
c.1862del (p.Pro621ArgfsTer?)
c.1523del (p.Pro508ArgfsTer?)
c.1871del (p.Pro624ArgfsTer?)
c.1979del (p.Pro660ArgfsTer?)
c.1943del (p.Pro648ArgfsTer?)
c.1901del (p.Pro634ArgfsTer?)
c.1679+6142del (n.1679+6142del)
c.1997del (p.Pro666ArgfsTer?)
c.2063del (p.Pro688ArgfsTer?)
c.2060del (p.Pro687ArgfsTer?)
c.2033del (p.Pro678ArgfsTer?)
c.1952del (p.Pro651ArgfsTer?)
c.1937del (p.Pro646ArgfsTer?)
c.1544del (p.Pro515ArgfsTer?)
c.2006del (p.Pro669ArgfsTer?)
c.1940del (p.Pro647ArgfsTer?)
c.1898del (p.Pro633ArgfsTer?)
c.971del (p.Pro324ArgfsTer?)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
20g.63407309G>ACA409639342KCNQ2c.2008C>T (p.Pro670Ser)
c.1954C>T (p.Pro652Ser)
c.1351C>T (p.Pro451Ser)
c.1861C>T (p.Pro621Ser)
c.1522C>T (p.Pro508Ser)
c.1870C>T (p.Pro624Ser)
c.1978C>T (p.Pro660Ser)
c.1942C>T (p.Pro648Ser)
c.1900C>T (p.Pro634Ser)
c.1679+6141C>T (n.1679+6141C>T)
c.1996C>T (p.Pro666Ser)
c.2062C>T (p.Pro688Ser)
c.2059C>T (p.Pro687Ser)
c.2032C>T (p.Pro678Ser)
c.1951C>T (p.Pro651Ser)
c.1936C>T (p.Pro646Ser)
c.1543C>T (p.Pro515Ser)
c.2005C>T (p.Pro669Ser)
c.1939C>T (p.Pro647Ser)
c.1897C>T (p.Pro633Ser)
c.970C>T (p.Pro324Ser)
20g.63407309G>CCA409639343KCNQ2c.2008C>G (p.Pro670Ala)
c.1954C>G (p.Pro652Ala)
c.1351C>G (p.Pro451Ala)
c.1861C>G (p.Pro621Ala)
c.1522C>G (p.Pro508Ala)
c.1870C>G (p.Pro624Ala)
c.1978C>G (p.Pro660Ala)
c.1942C>G (p.Pro648Ala)
c.1900C>G (p.Pro634Ala)
c.1679+6141C>G (n.1679+6141C>G)
c.1996C>G (p.Pro666Ala)
c.2062C>G (p.Pro688Ala)
c.2059C>G (p.Pro687Ala)
c.2032C>G (p.Pro678Ala)
c.1951C>G (p.Pro651Ala)
c.1936C>G (p.Pro646Ala)
c.1543C>G (p.Pro515Ala)
c.2005C>G (p.Pro669Ala)
c.1939C>G (p.Pro647Ala)
c.1897C>G (p.Pro633Ala)
c.970C>G (p.Pro324Ala)
20g.63407309G>TCA409639344KCNQ2c.2008C>A (p.Pro670Thr)
c.1954C>A (p.Pro652Thr)
c.1351C>A (p.Pro451Thr)
c.1861C>A (p.Pro621Thr)
c.1522C>A (p.Pro508Thr)
c.1870C>A (p.Pro624Thr)
c.1978C>A (p.Pro660Thr)
c.1942C>A (p.Pro648Thr)
c.1900C>A (p.Pro634Thr)
c.1679+6141C>A (n.1679+6141C>A)
c.1996C>A (p.Pro666Thr)
c.2062C>A (p.Pro688Thr)
c.2059C>A (p.Pro687Thr)
c.2032C>A (p.Pro678Thr)
c.1951C>A (p.Pro651Thr)
c.1936C>A (p.Pro646Thr)
c.1543C>A (p.Pro515Thr)
c.2005C>A (p.Pro669Thr)
c.1939C>A (p.Pro647Thr)
c.1897C>A (p.Pro633Thr)
c.970C>A (p.Pro324Thr)
 gnomAD v4
20g.63407310G>ACA511339565KCNQ2c.2007C>T (p.Pro669=)
c.1953C>T (p.Pro651=)
c.1350C>T (p.Pro450=)
c.1860C>T (p.Pro620=)
c.1521C>T (p.Pro507=)
c.1869C>T (p.Pro623=)
c.1977C>T (p.Pro659=)
c.1941C>T (p.Pro647=)
c.1899C>T (p.Pro633=)
c.1679+6140C>T (n.1679+6140C>T)
c.1995C>T (p.Pro665=)
c.2061C>T (p.Pro687=)
c.2058C>T (p.Pro686=)
c.2031C>T (p.Pro677=)
c.1950C>T (p.Pro650=)
c.1935C>T (p.Pro645=)
c.1542C>T (p.Pro514=)
c.2004C>T (p.Pro668=)
c.1938C>T (p.Pro646=)
c.1896C>T (p.Pro632=)
c.969C>T (p.Pro323=)
20g.63407310G>CCA511339563KCNQ2c.2007C>G (p.Pro669=)
c.1953C>G (p.Pro651=)
c.1350C>G (p.Pro450=)
c.1860C>G (p.Pro620=)
c.1521C>G (p.Pro507=)
c.1869C>G (p.Pro623=)
c.1977C>G (p.Pro659=)
c.1941C>G (p.Pro647=)
c.1899C>G (p.Pro633=)
c.1679+6140C>G (n.1679+6140C>G)
c.1995C>G (p.Pro665=)
c.2061C>G (p.Pro687=)
c.2058C>G (p.Pro686=)
c.2031C>G (p.Pro677=)
c.1950C>G (p.Pro650=)
c.1935C>G (p.Pro645=)
c.1542C>G (p.Pro514=)
c.2004C>G (p.Pro668=)
c.1938C>G (p.Pro646=)
c.1896C>G (p.Pro632=)
c.969C>G (p.Pro323=)
20g.63407310G>TCA511339564KCNQ2c.2007C>A (p.Pro669=)
c.1953C>A (p.Pro651=)
c.1350C>A (p.Pro450=)
c.1860C>A (p.Pro620=)
c.1521C>A (p.Pro507=)
c.1869C>A (p.Pro623=)
c.1977C>A (p.Pro659=)
c.1941C>A (p.Pro647=)
c.1899C>A (p.Pro633=)
c.1679+6140C>A (n.1679+6140C>A)
c.1995C>A (p.Pro665=)
c.2061C>A (p.Pro687=)
c.2058C>A (p.Pro686=)
c.2031C>A (p.Pro677=)
c.1950C>A (p.Pro650=)
c.1935C>A (p.Pro645=)
c.1542C>A (p.Pro514=)
c.2004C>A (p.Pro668=)
c.1938C>A (p.Pro646=)
c.1896C>A (p.Pro632=)
c.969C>A (p.Pro323=)
 ClinVar dbSNP gnomAD v4
20g.63407311G>ACA409639346KCNQ2c.2006C>T (p.Pro669Leu)
c.1952C>T (p.Pro651Leu)
c.1349C>T (p.Pro450Leu)
c.1859C>T (p.Pro620Leu)
c.1520C>T (p.Pro507Leu)
c.1868C>T (p.Pro623Leu)
c.1976C>T (p.Pro659Leu)
c.1940C>T (p.Pro647Leu)
c.1898C>T (p.Pro633Leu)
c.1679+6139C>T (n.1679+6139C>T)
c.1994C>T (p.Pro665Leu)
c.2060C>T (p.Pro687Leu)
c.2057C>T (p.Pro686Leu)
c.2030C>T (p.Pro677Leu)
c.1949C>T (p.Pro650Leu)
c.1934C>T (p.Pro645Leu)
c.1541C>T (p.Pro514Leu)
c.2003C>T (p.Pro668Leu)
c.1937C>T (p.Pro646Leu)
c.1895C>T (p.Pro632Leu)
c.968C>T (p.Pro323Leu)
 dbSNP
20g.63407311G>CCA409639347KCNQ2c.2006C>G (p.Pro669Arg)
c.1952C>G (p.Pro651Arg)
c.1349C>G (p.Pro450Arg)
c.1859C>G (p.Pro620Arg)
c.1520C>G (p.Pro507Arg)
c.1868C>G (p.Pro623Arg)
c.1976C>G (p.Pro659Arg)
c.1940C>G (p.Pro647Arg)
c.1898C>G (p.Pro633Arg)
c.1679+6139C>G (n.1679+6139C>G)
c.1994C>G (p.Pro665Arg)
c.2060C>G (p.Pro687Arg)
c.2057C>G (p.Pro686Arg)
c.2030C>G (p.Pro677Arg)
c.1949C>G (p.Pro650Arg)
c.1934C>G (p.Pro645Arg)
c.1541C>G (p.Pro514Arg)
c.2003C>G (p.Pro668Arg)
c.1937C>G (p.Pro646Arg)
c.1895C>G (p.Pro632Arg)
c.968C>G (p.Pro323Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407311G=CA2374774542KCNQ2c.2006C= (p.Pro669=)
c.1952C= (p.Pro651=)
c.1349C= (p.Pro450=)
c.1859C= (p.Pro620=)
c.1520C= (p.Pro507=)
c.1868C= (p.Pro623=)
c.1976C= (p.Pro659=)
c.1940C= (p.Pro647=)
c.1898C= (p.Pro633=)
c.1679+6139C= (n.1679+6139C=)
c.1994C= (p.Pro665=)
c.2060C= (p.Pro687=)
c.2057C= (p.Pro686=)
c.2030C= (p.Pro677=)
c.1949C= (p.Pro650=)
c.1934C= (p.Pro645=)
c.1541C= (p.Pro514=)
c.2003C= (p.Pro668=)
c.1937C= (p.Pro646=)
c.1895C= (p.Pro632=)
c.968C= (p.Pro323=)
20g.63407311G>TCA409639345KCNQ2c.2006C>A (p.Pro669His)
c.1952C>A (p.Pro651His)
c.1349C>A (p.Pro450His)
c.1859C>A (p.Pro620His)
c.1520C>A (p.Pro507His)
c.1868C>A (p.Pro623His)
c.1976C>A (p.Pro659His)
c.1940C>A (p.Pro647His)
c.1898C>A (p.Pro633His)
c.1679+6139C>A (n.1679+6139C>A)
c.1994C>A (p.Pro665His)
c.2060C>A (p.Pro687His)
c.2057C>A (p.Pro686His)
c.2030C>A (p.Pro677His)
c.1949C>A (p.Pro650His)
c.1934C>A (p.Pro645His)
c.1541C>A (p.Pro514His)
c.2003C>A (p.Pro668His)
c.1937C>A (p.Pro646His)
c.1895C>A (p.Pro632His)
c.968C>A (p.Pro323His)
 gnomAD v4
20g.63407312G>ACA409639350KCNQ2c.2005C>T (p.Pro669Ser)
c.1951C>T (p.Pro651Ser)
c.1348C>T (p.Pro450Ser)
c.1858C>T (p.Pro620Ser)
c.1519C>T (p.Pro507Ser)
c.1867C>T (p.Pro623Ser)
c.1975C>T (p.Pro659Ser)
c.1939C>T (p.Pro647Ser)
c.1897C>T (p.Pro633Ser)
c.1679+6138C>T (n.1679+6138C>T)
c.1993C>T (p.Pro665Ser)
c.2059C>T (p.Pro687Ser)
c.2056C>T (p.Pro686Ser)
c.2029C>T (p.Pro677Ser)
c.1948C>T (p.Pro650Ser)
c.1933C>T (p.Pro645Ser)
c.1540C>T (p.Pro514Ser)
c.2002C>T (p.Pro668Ser)
c.1936C>T (p.Pro646Ser)
c.1894C>T (p.Pro632Ser)
c.967C>T (p.Pro323Ser)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
20g.63407312G>CCA409639348KCNQ2c.2005C>G (p.Pro669Ala)
c.1951C>G (p.Pro651Ala)
c.1348C>G (p.Pro450Ala)
c.1858C>G (p.Pro620Ala)
c.1519C>G (p.Pro507Ala)
c.1867C>G (p.Pro623Ala)
c.1975C>G (p.Pro659Ala)
c.1939C>G (p.Pro647Ala)
c.1897C>G (p.Pro633Ala)
c.1679+6138C>G (n.1679+6138C>G)
c.1993C>G (p.Pro665Ala)
c.2059C>G (p.Pro687Ala)
c.2056C>G (p.Pro686Ala)
c.2029C>G (p.Pro677Ala)
c.1948C>G (p.Pro650Ala)
c.1933C>G (p.Pro645Ala)
c.1540C>G (p.Pro514Ala)
c.2002C>G (p.Pro668Ala)
c.1936C>G (p.Pro646Ala)
c.1894C>G (p.Pro632Ala)
c.967C>G (p.Pro323Ala)
20g.63407312G>TCA409639349KCNQ2c.2005C>A (p.Pro669Thr)
c.1951C>A (p.Pro651Thr)
c.1348C>A (p.Pro450Thr)
c.1858C>A (p.Pro620Thr)
c.1519C>A (p.Pro507Thr)
c.1867C>A (p.Pro623Thr)
c.1975C>A (p.Pro659Thr)
c.1939C>A (p.Pro647Thr)
c.1897C>A (p.Pro633Thr)
c.1679+6138C>A (n.1679+6138C>A)
c.1993C>A (p.Pro665Thr)
c.2059C>A (p.Pro687Thr)
c.2056C>A (p.Pro686Thr)
c.2029C>A (p.Pro677Thr)
c.1948C>A (p.Pro650Thr)
c.1933C>A (p.Pro645Thr)
c.1540C>A (p.Pro514Thr)
c.2002C>A (p.Pro668Thr)
c.1936C>A (p.Pro646Thr)
c.1894C>A (p.Pro632Thr)
c.967C>A (p.Pro323Thr)
20g.63407313G>ACA9958191KCNQ2c.2004C>T (p.Ile668=)
c.1950C>T (p.Ile650=)
c.1347C>T (p.Ile449=)
c.1857C>T (p.Ile619=)
c.1518C>T (p.Ile506=)
c.1866C>T (p.Ile622=)
c.1974C>T (p.Ile658=)
c.1938C>T (p.Ile646=)
c.1896C>T (p.Ile632=)
c.1679+6137C>T (n.1679+6137C>T)
c.1992C>T (p.Ile664=)
c.2058C>T (p.Ile686=)
c.2055C>T (p.Ile685=)
c.2028C>T (p.Ile676=)
c.1947C>T (p.Ile649=)
c.1932C>T (p.Ile644=)
c.1539C>T (p.Ile513=)
c.2001C>T (p.Ile667=)
c.1935C>T (p.Ile645=)
c.1893C>T (p.Ile631=)
c.966C>T (p.Ile322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407313G>CCA409639351KCNQ2c.2004C>G (p.Ile668Met)
c.1950C>G (p.Ile650Met)
c.1347C>G (p.Ile449Met)
c.1857C>G (p.Ile619Met)
c.1518C>G (p.Ile506Met)
c.1866C>G (p.Ile622Met)
c.1974C>G (p.Ile658Met)
c.1938C>G (p.Ile646Met)
c.1896C>G (p.Ile632Met)
c.1679+6137C>G (n.1679+6137C>G)
c.1992C>G (p.Ile664Met)
c.2058C>G (p.Ile686Met)
c.2055C>G (p.Ile685Met)
c.2028C>G (p.Ile676Met)
c.1947C>G (p.Ile649Met)
c.1932C>G (p.Ile644Met)
c.1539C>G (p.Ile513Met)
c.2001C>G (p.Ile667Met)
c.1935C>G (p.Ile645Met)
c.1893C>G (p.Ile631Met)
c.966C>G (p.Ile322Met)
 dbSNP
20g.63407313G=CA2374774543KCNQ2c.2004C= (p.Ile668=)
c.1950C= (p.Ile650=)
c.1347C= (p.Ile449=)
c.1857C= (p.Ile619=)
c.1518C= (p.Ile506=)
c.1866C= (p.Ile622=)
c.1974C= (p.Ile658=)
c.1938C= (p.Ile646=)
c.1896C= (p.Ile632=)
c.1679+6137C= (n.1679+6137C=)
c.1992C= (p.Ile664=)
c.2058C= (p.Ile686=)
c.2055C= (p.Ile685=)
c.2028C= (p.Ile676=)
c.1947C= (p.Ile649=)
c.1932C= (p.Ile644=)
c.1539C= (p.Ile513=)
c.2001C= (p.Ile667=)
c.1935C= (p.Ile645=)
c.1893C= (p.Ile631=)
c.966C= (p.Ile322=)
20g.63407313G>TCA511339567KCNQ2c.2004C>A (p.Ile668=)
c.1950C>A (p.Ile650=)
c.1347C>A (p.Ile449=)
c.1857C>A (p.Ile619=)
c.1518C>A (p.Ile506=)
c.1866C>A (p.Ile622=)
c.1974C>A (p.Ile658=)
c.1938C>A (p.Ile646=)
c.1896C>A (p.Ile632=)
c.1679+6137C>A (n.1679+6137C>A)
c.1992C>A (p.Ile664=)
c.2058C>A (p.Ile686=)
c.2055C>A (p.Ile685=)
c.2028C>A (p.Ile676=)
c.1947C>A (p.Ile649=)
c.1932C>A (p.Ile644=)
c.1539C>A (p.Ile513=)
c.2001C>A (p.Ile667=)
c.1935C>A (p.Ile645=)
c.1893C>A (p.Ile631=)
c.966C>A (p.Ile322=)
 gnomAD v4
20g.63407314A>CCA409639352KCNQ2c.2003T>G (p.Ile668Ser)
c.1949T>G (p.Ile650Ser)
c.1346T>G (p.Ile449Ser)
c.1856T>G (p.Ile619Ser)
c.1517T>G (p.Ile506Ser)
c.1865T>G (p.Ile622Ser)
c.1973T>G (p.Ile658Ser)
c.1937T>G (p.Ile646Ser)
c.1895T>G (p.Ile632Ser)
c.1679+6136T>G (n.1679+6136T>G)
c.1991T>G (p.Ile664Ser)
c.2057T>G (p.Ile686Ser)
c.2054T>G (p.Ile685Ser)
c.2027T>G (p.Ile676Ser)
c.1946T>G (p.Ile649Ser)
c.1931T>G (p.Ile644Ser)
c.1538T>G (p.Ile513Ser)
c.2000T>G (p.Ile667Ser)
c.1934T>G (p.Ile645Ser)
c.1892T>G (p.Ile631Ser)
c.965T>G (p.Ile322Ser)
20g.63407314A>GCA409639353KCNQ2c.2003T>C (p.Ile668Thr)
c.1949T>C (p.Ile650Thr)
c.1346T>C (p.Ile449Thr)
c.1856T>C (p.Ile619Thr)
c.1517T>C (p.Ile506Thr)
c.1865T>C (p.Ile622Thr)
c.1973T>C (p.Ile658Thr)
c.1937T>C (p.Ile646Thr)
c.1895T>C (p.Ile632Thr)
c.1679+6136T>C (n.1679+6136T>C)
c.1991T>C (p.Ile664Thr)
c.2057T>C (p.Ile686Thr)
c.2054T>C (p.Ile685Thr)
c.2027T>C (p.Ile676Thr)
c.1946T>C (p.Ile649Thr)
c.1931T>C (p.Ile644Thr)
c.1538T>C (p.Ile513Thr)
c.2000T>C (p.Ile667Thr)
c.1934T>C (p.Ile645Thr)
c.1892T>C (p.Ile631Thr)
c.965T>C (p.Ile322Thr)
 gnomAD v4
20g.63407314A>TCA409639354KCNQ2c.2003T>A (p.Ile668Asn)
c.1949T>A (p.Ile650Asn)
c.1346T>A (p.Ile449Asn)
c.1856T>A (p.Ile619Asn)
c.1517T>A (p.Ile506Asn)
c.1865T>A (p.Ile622Asn)
c.1973T>A (p.Ile658Asn)
c.1937T>A (p.Ile646Asn)
c.1895T>A (p.Ile632Asn)
c.1679+6136T>A (n.1679+6136T>A)
c.1991T>A (p.Ile664Asn)
c.2057T>A (p.Ile686Asn)
c.2054T>A (p.Ile685Asn)
c.2027T>A (p.Ile676Asn)
c.1946T>A (p.Ile649Asn)
c.1931T>A (p.Ile644Asn)
c.1538T>A (p.Ile513Asn)
c.2000T>A (p.Ile667Asn)
c.1934T>A (p.Ile645Asn)
c.1892T>A (p.Ile631Asn)
c.965T>A (p.Ile322Asn)
20g.63407315T>ACA409639355KCNQ2c.2002A>T (p.Ile668Phe)
c.1948A>T (p.Ile650Phe)
c.1345A>T (p.Ile449Phe)
c.1855A>T (p.Ile619Phe)
c.1516A>T (p.Ile506Phe)
c.1864A>T (p.Ile622Phe)
c.1972A>T (p.Ile658Phe)
c.1936A>T (p.Ile646Phe)
c.1894A>T (p.Ile632Phe)
c.1679+6135A>T (n.1679+6135A>T)
c.1990A>T (p.Ile664Phe)
c.2056A>T (p.Ile686Phe)
c.2053A>T (p.Ile685Phe)
c.2026A>T (p.Ile676Phe)
c.1945A>T (p.Ile649Phe)
c.1930A>T (p.Ile644Phe)
c.1537A>T (p.Ile513Phe)
c.1999A>T (p.Ile667Phe)
c.1933A>T (p.Ile645Phe)
c.1891A>T (p.Ile631Phe)
c.964A>T (p.Ile322Phe)
20g.63407315T>CCA409639356KCNQ2c.2002A>G (p.Ile668Val)
c.1948A>G (p.Ile650Val)
c.1345A>G (p.Ile449Val)
c.1855A>G (p.Ile619Val)
c.1516A>G (p.Ile506Val)
c.1864A>G (p.Ile622Val)
c.1972A>G (p.Ile658Val)
c.1936A>G (p.Ile646Val)
c.1894A>G (p.Ile632Val)
c.1679+6135A>G (n.1679+6135A>G)
c.1990A>G (p.Ile664Val)
c.2056A>G (p.Ile686Val)
c.2053A>G (p.Ile685Val)
c.2026A>G (p.Ile676Val)
c.1945A>G (p.Ile649Val)
c.1930A>G (p.Ile644Val)
c.1537A>G (p.Ile513Val)
c.1999A>G (p.Ile667Val)
c.1933A>G (p.Ile645Val)
c.1891A>G (p.Ile631Val)
c.964A>G (p.Ile322Val)
20g.63407315T>GCA409639357KCNQ2c.2002A>C (p.Ile668Leu)
c.1948A>C (p.Ile650Leu)
c.1345A>C (p.Ile449Leu)
c.1855A>C (p.Ile619Leu)
c.1516A>C (p.Ile506Leu)
c.1864A>C (p.Ile622Leu)
c.1972A>C (p.Ile658Leu)
c.1936A>C (p.Ile646Leu)
c.1894A>C (p.Ile632Leu)
c.1679+6135A>C (n.1679+6135A>C)
c.1990A>C (p.Ile664Leu)
c.2056A>C (p.Ile686Leu)
c.2053A>C (p.Ile685Leu)
c.2026A>C (p.Ile676Leu)
c.1945A>C (p.Ile649Leu)
c.1930A>C (p.Ile644Leu)
c.1537A>C (p.Ile513Leu)
c.1999A>C (p.Ile667Leu)
c.1933A>C (p.Ile645Leu)
c.1891A>C (p.Ile631Leu)
c.964A>C (p.Ile322Leu)
20g.63407316G>ACA511339571KCNQ2c.2001C>T (p.Gly667=)
c.1947C>T (p.Gly649=)
c.1344C>T (p.Gly448=)
c.1854C>T (p.Gly618=)
c.1515C>T (p.Gly505=)
c.1863C>T (p.Gly621=)
c.1971C>T (p.Gly657=)
c.1935C>T (p.Gly645=)
c.1893C>T (p.Gly631=)
c.1679+6134C>T (n.1679+6134C>T)
c.1989C>T (p.Gly663=)
c.2055C>T (p.Gly685=)
c.2052C>T (p.Gly684=)
c.2025C>T (p.Gly675=)
c.1944C>T (p.Gly648=)
c.1929C>T (p.Gly643=)
c.1536C>T (p.Gly512=)
c.1998C>T (p.Gly666=)
c.1932C>T (p.Gly644=)
c.1890C>T (p.Gly630=)
c.963C>T (p.Gly321=)
 gnomAD v4
20g.63407316G>CCA511339572KCNQ2c.2001C>G (p.Gly667=)
c.1947C>G (p.Gly649=)
c.1344C>G (p.Gly448=)
c.1854C>G (p.Gly618=)
c.1515C>G (p.Gly505=)
c.1863C>G (p.Gly621=)
c.1971C>G (p.Gly657=)
c.1935C>G (p.Gly645=)
c.1893C>G (p.Gly631=)
c.1679+6134C>G (n.1679+6134C>G)
c.1989C>G (p.Gly663=)
c.2055C>G (p.Gly685=)
c.2052C>G (p.Gly684=)
c.2025C>G (p.Gly675=)
c.1944C>G (p.Gly648=)
c.1929C>G (p.Gly643=)
c.1536C>G (p.Gly512=)
c.1998C>G (p.Gly666=)
c.1932C>G (p.Gly644=)
c.1890C>G (p.Gly630=)
c.963C>G (p.Gly321=)
20g.63407316G>TCA511339573KCNQ2c.2001C>A (p.Gly667=)
c.1947C>A (p.Gly649=)
c.1344C>A (p.Gly448=)
c.1854C>A (p.Gly618=)
c.1515C>A (p.Gly505=)
c.1863C>A (p.Gly621=)
c.1971C>A (p.Gly657=)
c.1935C>A (p.Gly645=)
c.1893C>A (p.Gly631=)
c.1679+6134C>A (n.1679+6134C>A)
c.1989C>A (p.Gly663=)
c.2055C>A (p.Gly685=)
c.2052C>A (p.Gly684=)
c.2025C>A (p.Gly675=)
c.1944C>A (p.Gly648=)
c.1929C>A (p.Gly643=)
c.1536C>A (p.Gly512=)
c.1998C>A (p.Gly666=)
c.1932C>A (p.Gly644=)
c.1890C>A (p.Gly630=)
c.963C>A (p.Gly321=)
 gnomAD v4
20g.63407317C>ACA409639358KCNQ2c.2000G>T (p.Gly667Val)
c.1946G>T (p.Gly649Val)
c.1343G>T (p.Gly448Val)
c.1853G>T (p.Gly618Val)
c.1514G>T (p.Gly505Val)
c.1862G>T (p.Gly621Val)
c.1970G>T (p.Gly657Val)
c.1934G>T (p.Gly645Val)
c.1892G>T (p.Gly631Val)
c.1679+6133G>T (n.1679+6133G>T)
c.1988G>T (p.Gly663Val)
c.2054G>T (p.Gly685Val)
c.2051G>T (p.Gly684Val)
c.2024G>T (p.Gly675Val)
c.1943G>T (p.Gly648Val)
c.1928G>T (p.Gly643Val)
c.1535G>T (p.Gly512Val)
c.1997G>T (p.Gly666Val)
c.1931G>T (p.Gly644Val)
c.1889G>T (p.Gly630Val)
c.962G>T (p.Gly321Val)
 dbSNP gnomAD v3 gnomAD v4
20g.63407317C=CA2374774544KCNQ2c.2000G= (p.Gly667=)
c.1946G= (p.Gly649=)
c.1343G= (p.Gly448=)
c.1853G= (p.Gly618=)
c.1514G= (p.Gly505=)
c.1862G= (p.Gly621=)
c.1970G= (p.Gly657=)
c.1934G= (p.Gly645=)
c.1892G= (p.Gly631=)
c.1679+6133G= (n.1679+6133G=)
c.1988G= (p.Gly663=)
c.2054G= (p.Gly685=)
c.2051G= (p.Gly684=)
c.2024G= (p.Gly675=)
c.1943G= (p.Gly648=)
c.1928G= (p.Gly643=)
c.1535G= (p.Gly512=)
c.1997G= (p.Gly666=)
c.1931G= (p.Gly644=)
c.1889G= (p.Gly630=)
c.962G= (p.Gly321=)
20g.63407317C>GCA9958192KCNQ2c.2000G>C (p.Gly667Ala)
c.1946G>C (p.Gly649Ala)
c.1343G>C (p.Gly448Ala)
c.1853G>C (p.Gly618Ala)
c.1514G>C (p.Gly505Ala)
c.1862G>C (p.Gly621Ala)
c.1970G>C (p.Gly657Ala)
c.1934G>C (p.Gly645Ala)
c.1892G>C (p.Gly631Ala)
c.1679+6133G>C (n.1679+6133G>C)
c.1988G>C (p.Gly663Ala)
c.2054G>C (p.Gly685Ala)
c.2051G>C (p.Gly684Ala)
c.2024G>C (p.Gly675Ala)
c.1943G>C (p.Gly648Ala)
c.1928G>C (p.Gly643Ala)
c.1535G>C (p.Gly512Ala)
c.1997G>C (p.Gly666Ala)
c.1931G>C (p.Gly644Ala)
c.1889G>C (p.Gly630Ala)
c.962G>C (p.Gly321Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.63407317C>TCA315510KCNQ2c.2000G>A (p.Gly667Asp)
c.1946G>A (p.Gly649Asp)
c.1343G>A (p.Gly448Asp)
c.1853G>A (p.Gly618Asp)
c.1514G>A (p.Gly505Asp)
c.1862G>A (p.Gly621Asp)
c.1970G>A (p.Gly657Asp)
c.1934G>A (p.Gly645Asp)
c.1892G>A (p.Gly631Asp)
c.1679+6133G>A (n.1679+6133G>A)
c.1988G>A (p.Gly663Asp)
c.2054G>A (p.Gly685Asp)
c.2051G>A (p.Gly684Asp)
c.2024G>A (p.Gly675Asp)
c.1943G>A (p.Gly648Asp)
c.1928G>A (p.Gly643Asp)
c.1535G>A (p.Gly512Asp)
c.1997G>A (p.Gly666Asp)
c.1931G>A (p.Gly644Asp)
c.1889G>A (p.Gly630Asp)
c.962G>A (p.Gly321Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
20g.63407318C>ACA409639366KCNQ2c.1999G>T (p.Gly667Cys)
c.1945G>T (p.Gly649Cys)
c.1342G>T (p.Gly448Cys)
c.1852G>T (p.Gly618Cys)
c.1513G>T (p.Gly505Cys)
c.1861G>T (p.Gly621Cys)
c.1969G>T (p.Gly657Cys)
c.1933G>T (p.Gly645Cys)
c.1891G>T (p.Gly631Cys)
c.1679+6132G>T (n.1679+6132G>T)
c.1987G>T (p.Gly663Cys)
c.2053G>T (p.Gly685Cys)
c.2050G>T (p.Gly684Cys)
c.2023G>T (p.Gly675Cys)
c.1942G>T (p.Gly648Cys)
c.1927G>T (p.Gly643Cys)
c.1534G>T (p.Gly512Cys)
c.1996G>T (p.Gly666Cys)
c.1930G>T (p.Gly644Cys)
c.1888G>T (p.Gly630Cys)
c.961G>T (p.Gly321Cys)
20g.63407318C>GCA409639362KCNQ2c.1999G>C (p.Gly667Arg)
c.1945G>C (p.Gly649Arg)
c.1342G>C (p.Gly448Arg)
c.1852G>C (p.Gly618Arg)
c.1513G>C (p.Gly505Arg)
c.1861G>C (p.Gly621Arg)
c.1969G>C (p.Gly657Arg)
c.1933G>C (p.Gly645Arg)
c.1891G>C (p.Gly631Arg)
c.1679+6132G>C (n.1679+6132G>C)
c.1987G>C (p.Gly663Arg)
c.2053G>C (p.Gly685Arg)
c.2050G>C (p.Gly684Arg)
c.2023G>C (p.Gly675Arg)
c.1942G>C (p.Gly648Arg)
c.1927G>C (p.Gly643Arg)
c.1534G>C (p.Gly512Arg)
c.1996G>C (p.Gly666Arg)
c.1930G>C (p.Gly644Arg)
c.1888G>C (p.Gly630Arg)
c.961G>C (p.Gly321Arg)
20g.63407318C>TCA409639364KCNQ2c.1999G>A (p.Gly667Ser)
c.1945G>A (p.Gly649Ser)
c.1342G>A (p.Gly448Ser)
c.1852G>A (p.Gly618Ser)
c.1513G>A (p.Gly505Ser)
c.1861G>A (p.Gly621Ser)
c.1969G>A (p.Gly657Ser)
c.1933G>A (p.Gly645Ser)
c.1891G>A (p.Gly631Ser)
c.1679+6132G>A (n.1679+6132G>A)
c.1987G>A (p.Gly663Ser)
c.2053G>A (p.Gly685Ser)
c.2050G>A (p.Gly684Ser)
c.2023G>A (p.Gly675Ser)
c.1942G>A (p.Gly648Ser)
c.1927G>A (p.Gly643Ser)
c.1534G>A (p.Gly512Ser)
c.1996G>A (p.Gly666Ser)
c.1930G>A (p.Gly644Ser)
c.1888G>A (p.Gly630Ser)
c.961G>A (p.Gly321Ser)
20g.63407319C>ACA409639368KCNQ2c.1998G>T (p.Met666Ile)
c.1944G>T (p.Met648Ile)
c.1341G>T (p.Met447Ile)
c.1851G>T (p.Met617Ile)
c.1512G>T (p.Met504Ile)
c.1860G>T (p.Met620Ile)
c.1968G>T (p.Met656Ile)
c.1932G>T (p.Met644Ile)
c.1890G>T (p.Met630Ile)
c.1679+6131G>T (n.1679+6131G>T)
c.1986G>T (p.Met662Ile)
c.2052G>T (p.Met684Ile)
c.2049G>T (p.Met683Ile)
c.2022G>T (p.Met674Ile)
c.1941G>T (p.Met647Ile)
c.1926G>T (p.Met642Ile)
c.1533G>T (p.Met511Ile)
c.1995G>T (p.Met665Ile)
c.1929G>T (p.Met643Ile)
c.1887G>T (p.Met629Ile)
c.960G>T (p.Met320Ile)
 gnomAD v4
20g.63407319C>GCA409639369KCNQ2c.1998G>C (p.Met666Ile)
c.1944G>C (p.Met648Ile)
c.1341G>C (p.Met447Ile)
c.1851G>C (p.Met617Ile)
c.1512G>C (p.Met504Ile)
c.1860G>C (p.Met620Ile)
c.1968G>C (p.Met656Ile)
c.1932G>C (p.Met644Ile)
c.1890G>C (p.Met630Ile)
c.1679+6131G>C (n.1679+6131G>C)
c.1986G>C (p.Met662Ile)
c.2052G>C (p.Met684Ile)
c.2049G>C (p.Met683Ile)
c.2022G>C (p.Met674Ile)
c.1941G>C (p.Met647Ile)
c.1926G>C (p.Met642Ile)
c.1533G>C (p.Met511Ile)
c.1995G>C (p.Met665Ile)
c.1929G>C (p.Met643Ile)
c.1887G>C (p.Met629Ile)
c.960G>C (p.Met320Ile)
20g.63407319C>TCA409639371KCNQ2c.1998G>A (p.Met666Ile)
c.1944G>A (p.Met648Ile)
c.1341G>A (p.Met447Ile)
c.1851G>A (p.Met617Ile)
c.1512G>A (p.Met504Ile)
c.1860G>A (p.Met620Ile)
c.1968G>A (p.Met656Ile)
c.1932G>A (p.Met644Ile)
c.1890G>A (p.Met630Ile)
c.1679+6131G>A (n.1679+6131G>A)
c.1986G>A (p.Met662Ile)
c.2052G>A (p.Met684Ile)
c.2049G>A (p.Met683Ile)
c.2022G>A (p.Met674Ile)
c.1941G>A (p.Met647Ile)
c.1926G>A (p.Met642Ile)
c.1533G>A (p.Met511Ile)
c.1995G>A (p.Met665Ile)
c.1929G>A (p.Met643Ile)
c.1887G>A (p.Met629Ile)
c.960G>A (p.Met320Ile)
20g.63407320A>CCA409639373KCNQ2c.1997T>G (p.Met666Arg)
c.1943T>G (p.Met648Arg)
c.1340T>G (p.Met447Arg)
n.100T>G
c.1850T>G (p.Met617Arg)
c.1511T>G (p.Met504Arg)
c.1859T>G (p.Met620Arg)
c.1967T>G (p.Met656Arg)
c.1931T>G (p.Met644Arg)
c.1889T>G (p.Met630Arg)
c.1679+6130T>G (n.1679+6130T>G)
c.1985T>G (p.Met662Arg)
c.2051T>G (p.Met684Arg)
c.2048T>G (p.Met683Arg)
c.2021T>G (p.Met674Arg)
c.1940T>G (p.Met647Arg)
c.1925T>G (p.Met642Arg)
c.1532T>G (p.Met511Arg)
c.1994T>G (p.Met665Arg)
c.1928T>G (p.Met643Arg)
c.1886T>G (p.Met629Arg)
c.959T>G (p.Met320Arg)
 gnomAD v4
20g.63407320A>GCA409639375KCNQ2c.1997T>C (p.Met666Thr)
c.1943T>C (p.Met648Thr)
c.1340T>C (p.Met447Thr)
n.100T>C
c.1850T>C (p.Met617Thr)
c.1511T>C (p.Met504Thr)
c.1859T>C (p.Met620Thr)
c.1967T>C (p.Met656Thr)
c.1931T>C (p.Met644Thr)
c.1889T>C (p.Met630Thr)
c.1679+6130T>C (n.1679+6130T>C)
c.1985T>C (p.Met662Thr)
c.2051T>C (p.Met684Thr)
c.2048T>C (p.Met683Thr)
c.2021T>C (p.Met674Thr)
c.1940T>C (p.Met647Thr)
c.1925T>C (p.Met642Thr)
c.1532T>C (p.Met511Thr)
c.1994T>C (p.Met665Thr)
c.1928T>C (p.Met643Thr)
c.1886T>C (p.Met629Thr)
c.959T>C (p.Met320Thr)
20g.63407320A>TCA409639377KCNQ2c.1997T>A (p.Met666Lys)
c.1943T>A (p.Met648Lys)
c.1340T>A (p.Met447Lys)
n.100T>A
c.1850T>A (p.Met617Lys)
c.1511T>A (p.Met504Lys)
c.1859T>A (p.Met620Lys)
c.1967T>A (p.Met656Lys)
c.1931T>A (p.Met644Lys)
c.1889T>A (p.Met630Lys)
c.1679+6130T>A (n.1679+6130T>A)
c.1985T>A (p.Met662Lys)
c.2051T>A (p.Met684Lys)
c.2048T>A (p.Met683Lys)
c.2021T>A (p.Met674Lys)
c.1940T>A (p.Met647Lys)
c.1925T>A (p.Met642Lys)
c.1532T>A (p.Met511Lys)
c.1994T>A (p.Met665Lys)
c.1928T>A (p.Met643Lys)
c.1886T>A (p.Met629Lys)
c.959T>A (p.Met320Lys)
20g.63407321T>ACA9958193KCNQ2c.1996A>T (p.Met666Leu)
c.1942A>T (p.Met648Leu)
c.1339A>T (p.Met447Leu)
n.99A>T
c.1849A>T (p.Met617Leu)
c.1510A>T (p.Met504Leu)
c.1858A>T (p.Met620Leu)
c.1966A>T (p.Met656Leu)
c.1930A>T (p.Met644Leu)
c.1888A>T (p.Met630Leu)
c.1679+6129A>T (n.1679+6129A>T)
c.1984A>T (p.Met662Leu)
c.2050A>T (p.Met684Leu)
c.2047A>T (p.Met683Leu)
c.2020A>T (p.Met674Leu)
c.1939A>T (p.Met647Leu)
c.1924A>T (p.Met642Leu)
c.1531A>T (p.Met511Leu)
c.1993A>T (p.Met665Leu)
c.1927A>T (p.Met643Leu)
c.1885A>T (p.Met629Leu)
c.958A>T (p.Met320Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407321T>CCA409639379KCNQ2c.1996A>G (p.Met666Val)
c.1942A>G (p.Met648Val)
c.1339A>G (p.Met447Val)
n.99A>G
c.1849A>G (p.Met617Val)
c.1510A>G (p.Met504Val)
c.1858A>G (p.Met620Val)
c.1966A>G (p.Met656Val)
c.1930A>G (p.Met644Val)
c.1888A>G (p.Met630Val)
c.1679+6129A>G (n.1679+6129A>G)
c.1984A>G (p.Met662Val)
c.2050A>G (p.Met684Val)
c.2047A>G (p.Met683Val)
c.2020A>G (p.Met674Val)
c.1939A>G (p.Met647Val)
c.1924A>G (p.Met642Val)
c.1531A>G (p.Met511Val)
c.1993A>G (p.Met665Val)
c.1927A>G (p.Met643Val)
c.1885A>G (p.Met629Val)
c.958A>G (p.Met320Val)
20g.63407321T>GCA409639380KCNQ2c.1996A>C (p.Met666Leu)
c.1942A>C (p.Met648Leu)
c.1339A>C (p.Met447Leu)
n.99A>C
c.1849A>C (p.Met617Leu)
c.1510A>C (p.Met504Leu)
c.1858A>C (p.Met620Leu)
c.1966A>C (p.Met656Leu)
c.1930A>C (p.Met644Leu)
c.1888A>C (p.Met630Leu)
c.1679+6129A>C (n.1679+6129A>C)
c.1984A>C (p.Met662Leu)
c.2050A>C (p.Met684Leu)
c.2047A>C (p.Met683Leu)
c.2020A>C (p.Met674Leu)
c.1939A>C (p.Met647Leu)
c.1924A>C (p.Met642Leu)
c.1531A>C (p.Met511Leu)
c.1993A>C (p.Met665Leu)
c.1927A>C (p.Met643Leu)
c.1885A>C (p.Met629Leu)
c.958A>C (p.Met320Leu)
20g.63407321T=CA2374774545KCNQ2c.1996A= (p.Met666=)
c.1942A= (p.Met648=)
c.1339A= (p.Met447=)
n.99A=
c.1849A= (p.Met617=)
c.1510A= (p.Met504=)
c.1858A= (p.Met620=)
c.1966A= (p.Met656=)
c.1930A= (p.Met644=)
c.1888A= (p.Met630=)
c.1679+6129A= (n.1679+6129A=)
c.1984A= (p.Met662=)
c.2050A= (p.Met684=)
c.2047A= (p.Met683=)
c.2020A= (p.Met674=)
c.1939A= (p.Met647=)
c.1924A= (p.Met642=)
c.1531A= (p.Met511=)
c.1993A= (p.Met665=)
c.1927A= (p.Met643=)
c.1885A= (p.Met629=)
c.958A= (p.Met320=)
20g.63407322C>ACA511339590KCNQ2c.1995G>T (p.Arg665=)
c.1941G>T (p.Arg647=)
c.1338G>T (p.Arg446=)
n.98G>T
c.1848G>T (p.Arg616=)
c.1509G>T (p.Arg503=)
c.1857G>T (p.Arg619=)
c.1965G>T (p.Arg655=)
c.1929G>T (p.Arg643=)
c.1887G>T (p.Arg629=)
c.1679+6128G>T (n.1679+6128G>T)
c.1983G>T (p.Arg661=)
c.2049G>T (p.Arg683=)
c.2046G>T (p.Arg682=)
c.2019G>T (p.Arg673=)
c.1938G>T (p.Arg646=)
c.1923G>T (p.Arg641=)
c.1530G>T (p.Arg510=)
c.1992G>T (p.Arg664=)
c.1926G>T (p.Arg642=)
c.1884G>T (p.Arg628=)
c.957G>T (p.Arg319=)
20g.63407322C>GCA511339592KCNQ2c.1995G>C (p.Arg665=)
c.1941G>C (p.Arg647=)
c.1338G>C (p.Arg446=)
n.98G>C
c.1848G>C (p.Arg616=)
c.1509G>C (p.Arg503=)
c.1857G>C (p.Arg619=)
c.1965G>C (p.Arg655=)
c.1929G>C (p.Arg643=)
c.1887G>C (p.Arg629=)
c.1679+6128G>C (n.1679+6128G>C)
c.1983G>C (p.Arg661=)
c.2049G>C (p.Arg683=)
c.2046G>C (p.Arg682=)
c.2019G>C (p.Arg673=)
c.1938G>C (p.Arg646=)
c.1923G>C (p.Arg641=)
c.1530G>C (p.Arg510=)
c.1992G>C (p.Arg664=)
c.1926G>C (p.Arg642=)
c.1884G>C (p.Arg628=)
c.957G>C (p.Arg319=)
20g.63407322C>TCA511339593KCNQ2c.1995G>A (p.Arg665=)
c.1941G>A (p.Arg647=)
c.1338G>A (p.Arg446=)
n.98G>A
c.1848G>A (p.Arg616=)
c.1509G>A (p.Arg503=)
c.1857G>A (p.Arg619=)
c.1965G>A (p.Arg655=)
c.1929G>A (p.Arg643=)
c.1887G>A (p.Arg629=)
c.1679+6128G>A (n.1679+6128G>A)
c.1983G>A (p.Arg661=)
c.2049G>A (p.Arg683=)
c.2046G>A (p.Arg682=)
c.2019G>A (p.Arg673=)
c.1938G>A (p.Arg646=)
c.1923G>A (p.Arg641=)
c.1530G>A (p.Arg510=)
c.1992G>A (p.Arg664=)
c.1926G>A (p.Arg642=)
c.1884G>A (p.Arg628=)
c.957G>A (p.Arg319=)
20g.63407323C>ACA409639382KCNQ2c.1994G>T (p.Arg665Leu)
c.1940G>T (p.Arg647Leu)
c.1337G>T (p.Arg446Leu)
n.97G>T
c.1847G>T (p.Arg616Leu)
c.1508G>T (p.Arg503Leu)
c.1856G>T (p.Arg619Leu)
c.1964G>T (p.Arg655Leu)
c.1928G>T (p.Arg643Leu)
c.1886G>T (p.Arg629Leu)
c.1679+6127G>T (n.1679+6127G>T)
c.1982G>T (p.Arg661Leu)
c.2048G>T (p.Arg683Leu)
c.2045G>T (p.Arg682Leu)
c.2018G>T (p.Arg673Leu)
c.1937G>T (p.Arg646Leu)
c.1922G>T (p.Arg641Leu)
c.1529G>T (p.Arg510Leu)
c.1991G>T (p.Arg664Leu)
c.1925G>T (p.Arg642Leu)
c.1883G>T (p.Arg628Leu)
c.956G>T (p.Arg319Leu)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407323C=CA2374774546KCNQ2c.1994G= (p.Arg665=)
c.1940G= (p.Arg647=)
c.1337G= (p.Arg446=)
n.97G=
c.1847G= (p.Arg616=)
c.1508G= (p.Arg503=)
c.1856G= (p.Arg619=)
c.1964G= (p.Arg655=)
c.1928G= (p.Arg643=)
c.1886G= (p.Arg629=)
c.1679+6127G= (n.1679+6127G=)
c.1982G= (p.Arg661=)
c.2048G= (p.Arg683=)
c.2045G= (p.Arg682=)
c.2018G= (p.Arg673=)
c.1937G= (p.Arg646=)
c.1922G= (p.Arg641=)
c.1529G= (p.Arg510=)
c.1991G= (p.Arg664=)
c.1925G= (p.Arg642=)
c.1883G= (p.Arg628=)
c.956G= (p.Arg319=)
20g.63407323C>GCA409639384KCNQ2c.1994G>C (p.Arg665Pro)
c.1940G>C (p.Arg647Pro)
c.1337G>C (p.Arg446Pro)
n.97G>C
c.1847G>C (p.Arg616Pro)
c.1508G>C (p.Arg503Pro)
c.1856G>C (p.Arg619Pro)
c.1964G>C (p.Arg655Pro)
c.1928G>C (p.Arg643Pro)
c.1886G>C (p.Arg629Pro)
c.1679+6127G>C (n.1679+6127G>C)
c.1982G>C (p.Arg661Pro)
c.2048G>C (p.Arg683Pro)
c.2045G>C (p.Arg682Pro)
c.2018G>C (p.Arg673Pro)
c.1937G>C (p.Arg646Pro)
c.1922G>C (p.Arg641Pro)
c.1529G>C (p.Arg510Pro)
c.1991G>C (p.Arg664Pro)
c.1925G>C (p.Arg642Pro)
c.1883G>C (p.Arg628Pro)
c.956G>C (p.Arg319Pro)
20g.63407323C>TCA9958194KCNQ2c.1994G>A (p.Arg665Gln)
c.1940G>A (p.Arg647Gln)
c.1337G>A (p.Arg446Gln)
n.97G>A
c.1847G>A (p.Arg616Gln)
c.1508G>A (p.Arg503Gln)
c.1856G>A (p.Arg619Gln)
c.1964G>A (p.Arg655Gln)
c.1928G>A (p.Arg643Gln)
c.1886G>A (p.Arg629Gln)
c.1679+6127G>A (n.1679+6127G>A)
c.1982G>A (p.Arg661Gln)
c.2048G>A (p.Arg683Gln)
c.2045G>A (p.Arg682Gln)
c.2018G>A (p.Arg673Gln)
c.1937G>A (p.Arg646Gln)
c.1922G>A (p.Arg641Gln)
c.1529G>A (p.Arg510Gln)
c.1991G>A (p.Arg664Gln)
c.1925G>A (p.Arg642Gln)
c.1883G>A (p.Arg628Gln)
c.956G>A (p.Arg319Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.63407324G>ACA9958195KCNQ2c.1993C>T (p.Arg665Trp)
c.1939C>T (p.Arg647Trp)
c.1336C>T (p.Arg446Trp)
n.96C>T
c.1846C>T (p.Arg616Trp)
c.1507C>T (p.Arg503Trp)
c.1855C>T (p.Arg619Trp)
c.1963C>T (p.Arg655Trp)
c.1927C>T (p.Arg643Trp)
c.1885C>T (p.Arg629Trp)
c.1679+6126C>T (n.1679+6126C>T)
c.1981C>T (p.Arg661Trp)
c.2047C>T (p.Arg683Trp)
c.2044C>T (p.Arg682Trp)
c.2017C>T (p.Arg673Trp)
c.1936C>T (p.Arg646Trp)
c.1921C>T (p.Arg641Trp)
c.1528C>T (p.Arg510Trp)
c.1990C>T (p.Arg664Trp)
c.1924C>T (p.Arg642Trp)
c.1882C>T (p.Arg628Trp)
c.955C>T (p.Arg319Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407324G>CCA409639386KCNQ2c.1993C>G (p.Arg665Gly)
c.1939C>G (p.Arg647Gly)
c.1336C>G (p.Arg446Gly)
n.96C>G
c.1846C>G (p.Arg616Gly)
c.1507C>G (p.Arg503Gly)
c.1855C>G (p.Arg619Gly)
c.1963C>G (p.Arg655Gly)
c.1927C>G (p.Arg643Gly)
c.1885C>G (p.Arg629Gly)
c.1679+6126C>G (n.1679+6126C>G)
c.1981C>G (p.Arg661Gly)
c.2047C>G (p.Arg683Gly)
c.2044C>G (p.Arg682Gly)
c.2017C>G (p.Arg673Gly)
c.1936C>G (p.Arg646Gly)
c.1921C>G (p.Arg641Gly)
c.1528C>G (p.Arg510Gly)
c.1990C>G (p.Arg664Gly)
c.1924C>G (p.Arg642Gly)
c.1882C>G (p.Arg628Gly)
c.955C>G (p.Arg319Gly)
20g.63407324G=CA2374774547KCNQ2c.1993C= (p.Arg665=)
c.1939C= (p.Arg647=)
c.1336C= (p.Arg446=)
n.96C=
c.1846C= (p.Arg616=)
c.1507C= (p.Arg503=)
c.1855C= (p.Arg619=)
c.1963C= (p.Arg655=)
c.1927C= (p.Arg643=)
c.1885C= (p.Arg629=)
c.1679+6126C= (n.1679+6126C=)
c.1981C= (p.Arg661=)
c.2047C= (p.Arg683=)
c.2044C= (p.Arg682=)
c.2017C= (p.Arg673=)
c.1936C= (p.Arg646=)
c.1921C= (p.Arg641=)
c.1528C= (p.Arg510=)
c.1990C= (p.Arg664=)
c.1924C= (p.Arg642=)
c.1882C= (p.Arg628=)
c.955C= (p.Arg319=)
20g.63407324G>TCA511339594KCNQ2c.1993C>A (p.Arg665=)
c.1939C>A (p.Arg647=)
c.1336C>A (p.Arg446=)
n.96C>A
c.1846C>A (p.Arg616=)
c.1507C>A (p.Arg503=)
c.1855C>A (p.Arg619=)
c.1963C>A (p.Arg655=)
c.1927C>A (p.Arg643=)
c.1885C>A (p.Arg629=)
c.1679+6126C>A (n.1679+6126C>A)
c.1981C>A (p.Arg661=)
c.2047C>A (p.Arg683=)
c.2044C>A (p.Arg682=)
c.2017C>A (p.Arg673=)
c.1936C>A (p.Arg646=)
c.1921C>A (p.Arg641=)
c.1528C>A (p.Arg510=)
c.1990C>A (p.Arg664=)
c.1924C>A (p.Arg642=)
c.1882C>A (p.Arg628=)
c.955C>A (p.Arg319=)
 gnomAD v4
20g.63407325C>ACA409639389KCNQ2c.1992G>T (p.Gln664His)
c.1938G>T (p.Gln646His)
c.1335G>T (p.Gln445His)
n.95G>T
c.1845G>T (p.Gln615His)
c.1506G>T (p.Gln502His)
c.1854G>T (p.Gln618His)
c.1962G>T (p.Gln654His)
c.1926G>T (p.Gln642His)
c.1884G>T (p.Gln628His)
c.1679+6125G>T (n.1679+6125G>T)
c.1980G>T (p.Gln660His)
c.2046G>T (p.Gln682His)
c.2043G>T (p.Gln681His)
c.2016G>T (p.Gln672His)
c.1935G>T (p.Gln645His)
c.1920G>T (p.Gln640His)
c.1527G>T (p.Gln509His)
c.1989G>T (p.Gln663His)
c.1923G>T (p.Gln641His)
c.1881G>T (p.Gln627His)
c.954G>T (p.Gln318His)
20g.63407325C=CA2374774548KCNQ2c.1992G= (p.Gln664=)
c.1938G= (p.Gln646=)
c.1335G= (p.Gln445=)
n.95G=
c.1845G= (p.Gln615=)
c.1506G= (p.Gln502=)
c.1854G= (p.Gln618=)
c.1962G= (p.Gln654=)
c.1926G= (p.Gln642=)
c.1884G= (p.Gln628=)
c.1679+6125G= (n.1679+6125G=)
c.1980G= (p.Gln660=)
c.2046G= (p.Gln682=)
c.2043G= (p.Gln681=)
c.2016G= (p.Gln672=)
c.1935G= (p.Gln645=)
c.1920G= (p.Gln640=)
c.1527G= (p.Gln509=)
c.1989G= (p.Gln663=)
c.1923G= (p.Gln641=)
c.1881G= (p.Gln627=)
c.954G= (p.Gln318=)
20g.63407325C>GCA409639391KCNQ2c.1992G>C (p.Gln664His)
c.1938G>C (p.Gln646His)
c.1335G>C (p.Gln445His)
n.95G>C
c.1845G>C (p.Gln615His)
c.1506G>C (p.Gln502His)
c.1854G>C (p.Gln618His)
c.1962G>C (p.Gln654His)
c.1926G>C (p.Gln642His)
c.1884G>C (p.Gln628His)
c.1679+6125G>C (n.1679+6125G>C)
c.1980G>C (p.Gln660His)
c.2046G>C (p.Gln682His)
c.2043G>C (p.Gln681His)
c.2016G>C (p.Gln672His)
c.1935G>C (p.Gln645His)
c.1920G>C (p.Gln640His)
c.1527G>C (p.Gln509His)
c.1989G>C (p.Gln663His)
c.1923G>C (p.Gln641His)
c.1881G>C (p.Gln627His)
c.954G>C (p.Gln318His)
 gnomAD v4
20g.63407325C>TCA9958196KCNQ2c.1992G>A (p.Gln664=)
c.1938G>A (p.Gln646=)
c.1335G>A (p.Gln445=)
n.95G>A
c.1845G>A (p.Gln615=)
c.1506G>A (p.Gln502=)
c.1854G>A (p.Gln618=)
c.1962G>A (p.Gln654=)
c.1926G>A (p.Gln642=)
c.1884G>A (p.Gln628=)
c.1679+6125G>A (n.1679+6125G>A)
c.1980G>A (p.Gln660=)
c.2046G>A (p.Gln682=)
c.2043G>A (p.Gln681=)
c.2016G>A (p.Gln672=)
c.1935G>A (p.Gln645=)
c.1920G>A (p.Gln640=)
c.1527G>A (p.Gln509=)
c.1989G>A (p.Gln663=)
c.1923G>A (p.Gln641=)
c.1881G>A (p.Gln627=)
c.954G>A (p.Gln318=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407326T>ACA409639394KCNQ2c.1991A>T (p.Gln664Leu)
c.1937A>T (p.Gln646Leu)
c.1334A>T (p.Gln445Leu)
n.94A>T
c.1844A>T (p.Gln615Leu)
c.1505A>T (p.Gln502Leu)
c.1853A>T (p.Gln618Leu)
c.1961A>T (p.Gln654Leu)
c.1925A>T (p.Gln642Leu)
c.1883A>T (p.Gln628Leu)
c.1679+6124A>T (n.1679+6124A>T)
c.1979A>T (p.Gln660Leu)
c.2045A>T (p.Gln682Leu)
c.2042A>T (p.Gln681Leu)
c.2015A>T (p.Gln672Leu)
c.1934A>T (p.Gln645Leu)
c.1919A>T (p.Gln640Leu)
c.1526A>T (p.Gln509Leu)
c.1988A>T (p.Gln663Leu)
c.1922A>T (p.Gln641Leu)
c.1880A>T (p.Gln627Leu)
c.953A>T (p.Gln318Leu)
20g.63407326T>CCA315507KCNQ2c.1991A>G (p.Gln664Arg)
c.1937A>G (p.Gln646Arg)
c.1334A>G (p.Gln445Arg)
n.94A>G
c.1844A>G (p.Gln615Arg)
c.1505A>G (p.Gln502Arg)
c.1853A>G (p.Gln618Arg)
c.1961A>G (p.Gln654Arg)
c.1925A>G (p.Gln642Arg)
c.1883A>G (p.Gln628Arg)
c.1679+6124A>G (n.1679+6124A>G)
c.1979A>G (p.Gln660Arg)
c.2045A>G (p.Gln682Arg)
c.2042A>G (p.Gln681Arg)
c.2015A>G (p.Gln672Arg)
c.1934A>G (p.Gln645Arg)
c.1919A>G (p.Gln640Arg)
c.1526A>G (p.Gln509Arg)
c.1988A>G (p.Gln663Arg)
c.1922A>G (p.Gln641Arg)
c.1880A>G (p.Gln627Arg)
c.953A>G (p.Gln318Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63407326T>GCA409639397KCNQ2c.1991A>C (p.Gln664Pro)
c.1937A>C (p.Gln646Pro)
c.1334A>C (p.Gln445Pro)
n.94A>C
c.1844A>C (p.Gln615Pro)
c.1505A>C (p.Gln502Pro)
c.1853A>C (p.Gln618Pro)
c.1961A>C (p.Gln654Pro)
c.1925A>C (p.Gln642Pro)
c.1883A>C (p.Gln628Pro)
c.1679+6124A>C (n.1679+6124A>C)
c.1979A>C (p.Gln660Pro)
c.2045A>C (p.Gln682Pro)
c.2042A>C (p.Gln681Pro)
c.2015A>C (p.Gln672Pro)
c.1934A>C (p.Gln645Pro)
c.1919A>C (p.Gln640Pro)
c.1526A>C (p.Gln509Pro)
c.1988A>C (p.Gln663Pro)
c.1922A>C (p.Gln641Pro)
c.1880A>C (p.Gln627Pro)
c.953A>C (p.Gln318Pro)
 gnomAD v4
20g.63407326T=CA2374774549KCNQ2c.1991A= (p.Gln664=)
c.1937A= (p.Gln646=)
c.1334A= (p.Gln445=)
n.94A=
c.1844A= (p.Gln615=)
c.1505A= (p.Gln502=)
c.1853A= (p.Gln618=)
c.1961A= (p.Gln654=)
c.1925A= (p.Gln642=)
c.1883A= (p.Gln628=)
c.1679+6124A= (n.1679+6124A=)
c.1979A= (p.Gln660=)
c.2045A= (p.Gln682=)
c.2042A= (p.Gln681=)
c.2015A= (p.Gln672=)
c.1934A= (p.Gln645=)
c.1919A= (p.Gln640=)
c.1526A= (p.Gln509=)
c.1988A= (p.Gln663=)
c.1922A= (p.Gln641=)
c.1880A= (p.Gln627=)
c.953A= (p.Gln318=)
20g.63407327G>ACA409639404KCNQ2c.1990C>T (p.Gln664Ter)
c.1936C>T (p.Gln646Ter)
c.1333C>T (p.Gln445Ter)
n.93C>T
c.1843C>T (p.Gln615Ter)
c.1504C>T (p.Gln502Ter)
c.1852C>T (p.Gln618Ter)
c.1960C>T (p.Gln654Ter)
c.1924C>T (p.Gln642Ter)
c.1882C>T (p.Gln628Ter)
c.1679+6123C>T (n.1679+6123C>T)
c.1978C>T (p.Gln660Ter)
c.2044C>T (p.Gln682Ter)
c.2041C>T (p.Gln681Ter)
c.2014C>T (p.Gln672Ter)
c.1933C>T (p.Gln645Ter)
c.1918C>T (p.Gln640Ter)
c.1525C>T (p.Gln509Ter)
c.1987C>T (p.Gln663Ter)
c.1921C>T (p.Gln641Ter)
c.1879C>T (p.Gln627Ter)
c.952C>T (p.Gln318Ter)
20g.63407327G>CCA409639402KCNQ2c.1990C>G (p.Gln664Glu)
c.1936C>G (p.Gln646Glu)
c.1333C>G (p.Gln445Glu)
n.93C>G
c.1843C>G (p.Gln615Glu)
c.1504C>G (p.Gln502Glu)
c.1852C>G (p.Gln618Glu)
c.1960C>G (p.Gln654Glu)
c.1924C>G (p.Gln642Glu)
c.1882C>G (p.Gln628Glu)
c.1679+6123C>G (n.1679+6123C>G)
c.1978C>G (p.Gln660Glu)
c.2044C>G (p.Gln682Glu)
c.2041C>G (p.Gln681Glu)
c.2014C>G (p.Gln672Glu)
c.1933C>G (p.Gln645Glu)
c.1918C>G (p.Gln640Glu)
c.1525C>G (p.Gln509Glu)
c.1987C>G (p.Gln663Glu)
c.1921C>G (p.Gln641Glu)
c.1879C>G (p.Gln627Glu)
c.952C>G (p.Gln318Glu)
20g.63407327G>TCA409639400KCNQ2c.1990C>A (p.Gln664Lys)
c.1936C>A (p.Gln646Lys)
c.1333C>A (p.Gln445Lys)
n.93C>A
c.1843C>A (p.Gln615Lys)
c.1504C>A (p.Gln502Lys)
c.1852C>A (p.Gln618Lys)
c.1960C>A (p.Gln654Lys)
c.1924C>A (p.Gln642Lys)
c.1882C>A (p.Gln628Lys)
c.1679+6123C>A (n.1679+6123C>A)
c.1978C>A (p.Gln660Lys)
c.2044C>A (p.Gln682Lys)
c.2041C>A (p.Gln681Lys)
c.2014C>A (p.Gln672Lys)
c.1933C>A (p.Gln645Lys)
c.1918C>A (p.Gln640Lys)
c.1525C>A (p.Gln509Lys)
c.1987C>A (p.Gln663Lys)
c.1921C>A (p.Gln641Lys)
c.1879C>A (p.Gln627Lys)
c.952C>A (p.Gln318Lys)
 gnomAD v4
20g.63407328C>ACA409639406KCNQ2c.1989G>T (p.Met663Ile)
c.1935G>T (p.Met645Ile)
c.1332G>T (p.Met444Ile)
n.92G>T
c.1842G>T (p.Met614Ile)
c.1503G>T (p.Met501Ile)
c.1851G>T (p.Met617Ile)
c.1959G>T (p.Met653Ile)
c.1923G>T (p.Met641Ile)
c.1881G>T (p.Met627Ile)
c.1679+6122G>T (n.1679+6122G>T)
c.1977G>T (p.Met659Ile)
c.2043G>T (p.Met681Ile)
c.2040G>T (p.Met680Ile)
c.2013G>T (p.Met671Ile)
c.1932G>T (p.Met644Ile)
c.1917G>T (p.Met639Ile)
c.1524G>T (p.Met508Ile)
c.1986G>T (p.Met662Ile)
c.1920G>T (p.Met640Ile)
c.1878G>T (p.Met626Ile)
c.951G>T (p.Met317Ile)
20g.63407328C=CA2374774550KCNQ2c.1989G= (p.Met663=)
c.1935G= (p.Met645=)
c.1332G= (p.Met444=)
n.92G=
c.1842G= (p.Met614=)
c.1503G= (p.Met501=)
c.1851G= (p.Met617=)
c.1959G= (p.Met653=)
c.1923G= (p.Met641=)
c.1881G= (p.Met627=)
c.1679+6122G= (n.1679+6122G=)
c.1977G= (p.Met659=)
c.2043G= (p.Met681=)
c.2040G= (p.Met680=)
c.2013G= (p.Met671=)
c.1932G= (p.Met644=)
c.1917G= (p.Met639=)
c.1524G= (p.Met508=)
c.1986G= (p.Met662=)
c.1920G= (p.Met640=)
c.1878G= (p.Met626=)
c.951G= (p.Met317=)
20g.63407328C>GCA409639408KCNQ2c.1989G>C (p.Met663Ile)
c.1935G>C (p.Met645Ile)
c.1332G>C (p.Met444Ile)
n.92G>C
c.1842G>C (p.Met614Ile)
c.1503G>C (p.Met501Ile)
c.1851G>C (p.Met617Ile)
c.1959G>C (p.Met653Ile)
c.1923G>C (p.Met641Ile)
c.1881G>C (p.Met627Ile)
c.1679+6122G>C (n.1679+6122G>C)
c.1977G>C (p.Met659Ile)
c.2043G>C (p.Met681Ile)
c.2040G>C (p.Met680Ile)
c.2013G>C (p.Met671Ile)
c.1932G>C (p.Met644Ile)
c.1917G>C (p.Met639Ile)
c.1524G>C (p.Met508Ile)
c.1986G>C (p.Met662Ile)
c.1920G>C (p.Met640Ile)
c.1878G>C (p.Met626Ile)
c.951G>C (p.Met317Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.63407328C>TCA409639409KCNQ2c.1989G>A (p.Met663Ile)
c.1935G>A (p.Met645Ile)
c.1332G>A (p.Met444Ile)
n.92G>A
c.1842G>A (p.Met614Ile)
c.1503G>A (p.Met501Ile)
c.1851G>A (p.Met617Ile)
c.1959G>A (p.Met653Ile)
c.1923G>A (p.Met641Ile)
c.1881G>A (p.Met627Ile)
c.1679+6122G>A (n.1679+6122G>A)
c.1977G>A (p.Met659Ile)
c.2043G>A (p.Met681Ile)
c.2040G>A (p.Met680Ile)
c.2013G>A (p.Met671Ile)
c.1932G>A (p.Met644Ile)
c.1917G>A (p.Met639Ile)
c.1524G>A (p.Met508Ile)
c.1986G>A (p.Met662Ile)
c.1920G>A (p.Met640Ile)
c.1878G>A (p.Met626Ile)
c.951G>A (p.Met317Ile)
20g.63407328dupCA2739277258KCNQ2c.1989dup (p.Gln664AlafsTer?)
c.1935dup (p.Gln646AlafsTer?)
c.1332dup (p.Gln445AlafsTer?)
n.92dup
c.1842dup (p.Gln615AlafsTer?)
c.1503dup (p.Gln502AlafsTer?)
c.1851dup (p.Gln618AlafsTer?)
c.1959dup (p.Gln654AlafsTer?)
c.1923dup (p.Gln642AlafsTer?)
c.1881dup (p.Gln628AlafsTer?)
c.1679+6122dup (n.1679+6122dup)
c.1977dup (p.Gln660AlafsTer?)
c.2043dup (p.Gln682AlafsTer?)
c.2040dup (p.Gln681AlafsTer?)
c.2013dup (p.Gln672AlafsTer?)
c.1932dup (p.Gln645AlafsTer?)
c.1917dup (p.Gln640AlafsTer?)
c.1524dup (p.Gln509AlafsTer?)
c.1986dup (p.Gln663AlafsTer?)
c.1920dup (p.Gln641AlafsTer?)
c.1878dup (p.Gln627AlafsTer?)
c.951dup (p.Gln318AlafsTer?)
 ClinVar
20g.63407329A=CA2374774551KCNQ2c.1988T= (p.Met663=)
c.1934T= (p.Met645=)
c.1331T= (p.Met444=)
n.91T=
c.1841T= (p.Met614=)
c.1502T= (p.Met501=)
c.1850T= (p.Met617=)
c.1958T= (p.Met653=)
c.1922T= (p.Met641=)
c.1880T= (p.Met627=)
c.1679+6121T= (n.1679+6121T=)
c.1976T= (p.Met659=)
c.2042T= (p.Met681=)
c.2039T= (p.Met680=)
c.2012T= (p.Met671=)
c.1931T= (p.Met644=)
c.1916T= (p.Met639=)
c.1523T= (p.Met508=)
c.1985T= (p.Met662=)
c.1919T= (p.Met640=)
c.1877T= (p.Met626=)
c.950T= (p.Met317=)
20g.63407329A>CCA409639411KCNQ2c.1988T>G (p.Met663Arg)
c.1934T>G (p.Met645Arg)
c.1331T>G (p.Met444Arg)
n.91T>G
c.1841T>G (p.Met614Arg)
c.1502T>G (p.Met501Arg)
c.1850T>G (p.Met617Arg)
c.1958T>G (p.Met653Arg)
c.1922T>G (p.Met641Arg)
c.1880T>G (p.Met627Arg)
c.1679+6121T>G (n.1679+6121T>G)
c.1976T>G (p.Met659Arg)
c.2042T>G (p.Met681Arg)
c.2039T>G (p.Met680Arg)
c.2012T>G (p.Met671Arg)
c.1931T>G (p.Met644Arg)
c.1916T>G (p.Met639Arg)
c.1523T>G (p.Met508Arg)
c.1985T>G (p.Met662Arg)
c.1919T>G (p.Met640Arg)
c.1877T>G (p.Met626Arg)
c.950T>G (p.Met317Arg)
20g.63407329A>GCA409639412KCNQ2c.1988T>C (p.Met663Thr)
c.1934T>C (p.Met645Thr)
c.1331T>C (p.Met444Thr)
n.91T>C
c.1841T>C (p.Met614Thr)
c.1502T>C (p.Met501Thr)
c.1850T>C (p.Met617Thr)
c.1958T>C (p.Met653Thr)
c.1922T>C (p.Met641Thr)
c.1880T>C (p.Met627Thr)
c.1679+6121T>C (n.1679+6121T>C)
c.1976T>C (p.Met659Thr)
c.2042T>C (p.Met681Thr)
c.2039T>C (p.Met680Thr)
c.2012T>C (p.Met671Thr)
c.1931T>C (p.Met644Thr)
c.1916T>C (p.Met639Thr)
c.1523T>C (p.Met508Thr)
c.1985T>C (p.Met662Thr)
c.1919T>C (p.Met640Thr)
c.1877T>C (p.Met626Thr)
c.950T>C (p.Met317Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.63407329A>TCA409639414KCNQ2c.1988T>A (p.Met663Lys)
c.1934T>A (p.Met645Lys)
c.1331T>A (p.Met444Lys)
n.91T>A
c.1841T>A (p.Met614Lys)
c.1502T>A (p.Met501Lys)
c.1850T>A (p.Met617Lys)
c.1958T>A (p.Met653Lys)
c.1922T>A (p.Met641Lys)
c.1880T>A (p.Met627Lys)
c.1679+6121T>A (n.1679+6121T>A)
c.1976T>A (p.Met659Lys)
c.2042T>A (p.Met681Lys)
c.2039T>A (p.Met680Lys)
c.2012T>A (p.Met671Lys)
c.1931T>A (p.Met644Lys)
c.1916T>A (p.Met639Lys)
c.1523T>A (p.Met508Lys)
c.1985T>A (p.Met662Lys)
c.1919T>A (p.Met640Lys)
c.1877T>A (p.Met626Lys)
c.950T>A (p.Met317Lys)
20g.63407330T>ACA409639416KCNQ2c.1987A>T (p.Met663Leu)
c.1933A>T (p.Met645Leu)
c.1330A>T (p.Met444Leu)
n.90A>T
c.1840A>T (p.Met614Leu)
c.1501A>T (p.Met501Leu)
c.1849A>T (p.Met617Leu)
c.1957A>T (p.Met653Leu)
c.1921A>T (p.Met641Leu)
c.1879A>T (p.Met627Leu)
c.1679+6120A>T (n.1679+6120A>T)
c.1975A>T (p.Met659Leu)
c.2041A>T (p.Met681Leu)
c.2038A>T (p.Met680Leu)
c.2011A>T (p.Met671Leu)
c.1930A>T (p.Met644Leu)
c.1915A>T (p.Met639Leu)
c.1522A>T (p.Met508Leu)
c.1984A>T (p.Met662Leu)
c.1918A>T (p.Met640Leu)
c.1876A>T (p.Met626Leu)
c.949A>T (p.Met317Leu)
20g.63407330T>CCA9958197KCNQ2c.1987A>G (p.Met663Val)
c.1933A>G (p.Met645Val)
c.1330A>G (p.Met444Val)
n.90A>G
c.1840A>G (p.Met614Val)
c.1501A>G (p.Met501Val)
c.1849A>G (p.Met617Val)
c.1957A>G (p.Met653Val)
c.1921A>G (p.Met641Val)
c.1879A>G (p.Met627Val)
c.1679+6120A>G (n.1679+6120A>G)
c.1975A>G (p.Met659Val)
c.2041A>G (p.Met681Val)
c.2038A>G (p.Met680Val)
c.2011A>G (p.Met671Val)
c.1930A>G (p.Met644Val)
c.1915A>G (p.Met639Val)
c.1522A>G (p.Met508Val)
c.1984A>G (p.Met662Val)
c.1918A>G (p.Met640Val)
c.1876A>G (p.Met626Val)
c.949A>G (p.Met317Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407330T>GCA409639418KCNQ2c.1987A>C (p.Met663Leu)
c.1933A>C (p.Met645Leu)
c.1330A>C (p.Met444Leu)
n.90A>C
c.1840A>C (p.Met614Leu)
c.1501A>C (p.Met501Leu)
c.1849A>C (p.Met617Leu)
c.1957A>C (p.Met653Leu)
c.1921A>C (p.Met641Leu)
c.1879A>C (p.Met627Leu)
c.1679+6120A>C (n.1679+6120A>C)
c.1975A>C (p.Met659Leu)
c.2041A>C (p.Met681Leu)
c.2038A>C (p.Met680Leu)
c.2011A>C (p.Met671Leu)
c.1930A>C (p.Met644Leu)
c.1915A>C (p.Met639Leu)
c.1522A>C (p.Met508Leu)
c.1984A>C (p.Met662Leu)
c.1918A>C (p.Met640Leu)
c.1876A>C (p.Met626Leu)
c.949A>C (p.Met317Leu)
20g.63407330T=CA2374774552KCNQ2c.1987A= (p.Met663=)
c.1933A= (p.Met645=)
c.1330A= (p.Met444=)
n.90A=
c.1840A= (p.Met614=)
c.1501A= (p.Met501=)
c.1849A= (p.Met617=)
c.1957A= (p.Met653=)
c.1921A= (p.Met641=)
c.1879A= (p.Met627=)
c.1679+6120A= (n.1679+6120A=)
c.1975A= (p.Met659=)
c.2041A= (p.Met681=)
c.2038A= (p.Met680=)
c.2011A= (p.Met671=)
c.1930A= (p.Met644=)
c.1915A= (p.Met639=)
c.1522A= (p.Met508=)
c.1984A= (p.Met662=)
c.1918A= (p.Met640=)
c.1876A= (p.Met626=)
c.949A= (p.Met317=)
20g.63407331G>ACA511339616KCNQ2c.1986C>T (p.Tyr662=)
c.1932C>T (p.Tyr644=)
c.1329C>T (p.Tyr443=)
n.89C>T
c.1839C>T (p.Tyr613=)
c.1500C>T (p.Tyr500=)
c.1848C>T (p.Tyr616=)
c.1956C>T (p.Tyr652=)
c.1920C>T (p.Tyr640=)
c.1878C>T (p.Tyr626=)
c.1679+6119C>T (n.1679+6119C>T)
c.1974C>T (p.Tyr658=)
c.2040C>T (p.Tyr680=)
c.2037C>T (p.Tyr679=)
c.2010C>T (p.Tyr670=)
c.1929C>T (p.Tyr643=)
c.1914C>T (p.Tyr638=)
c.1521C>T (p.Tyr507=)
c.1983C>T (p.Tyr661=)
c.1917C>T (p.Tyr639=)
c.1875C>T (p.Tyr625=)
c.948C>T (p.Tyr316=)
 gnomAD v4
20g.63407331G>CCA409639421KCNQ2c.1986C>G (p.Tyr662Ter)
c.1932C>G (p.Tyr644Ter)
c.1329C>G (p.Tyr443Ter)
n.89C>G
c.1839C>G (p.Tyr613Ter)
c.1500C>G (p.Tyr500Ter)
c.1848C>G (p.Tyr616Ter)
c.1956C>G (p.Tyr652Ter)
c.1920C>G (p.Tyr640Ter)
c.1878C>G (p.Tyr626Ter)
c.1679+6119C>G (n.1679+6119C>G)
c.1974C>G (p.Tyr658Ter)
c.2040C>G (p.Tyr680Ter)
c.2037C>G (p.Tyr679Ter)
c.2010C>G (p.Tyr670Ter)
c.1929C>G (p.Tyr643Ter)
c.1914C>G (p.Tyr638Ter)
c.1521C>G (p.Tyr507Ter)
c.1983C>G (p.Tyr661Ter)
c.1917C>G (p.Tyr639Ter)
c.1875C>G (p.Tyr625Ter)
c.948C>G (p.Tyr316Ter)
20g.63407331G>TCA409639422KCNQ2c.1986C>A (p.Tyr662Ter)
c.1932C>A (p.Tyr644Ter)
c.1329C>A (p.Tyr443Ter)
n.89C>A
c.1839C>A (p.Tyr613Ter)
c.1500C>A (p.Tyr500Ter)
c.1848C>A (p.Tyr616Ter)
c.1956C>A (p.Tyr652Ter)
c.1920C>A (p.Tyr640Ter)
c.1878C>A (p.Tyr626Ter)
c.1679+6119C>A (n.1679+6119C>A)
c.1974C>A (p.Tyr658Ter)
c.2040C>A (p.Tyr680Ter)
c.2037C>A (p.Tyr679Ter)
c.2010C>A (p.Tyr670Ter)
c.1929C>A (p.Tyr643Ter)
c.1914C>A (p.Tyr638Ter)
c.1521C>A (p.Tyr507Ter)
c.1983C>A (p.Tyr661Ter)
c.1917C>A (p.Tyr639Ter)
c.1875C>A (p.Tyr625Ter)
c.948C>A (p.Tyr316Ter)
 gnomAD v4
20g.63407332T>ACA409639423KCNQ2c.1985A>T (p.Tyr662Phe)
c.1931A>T (p.Tyr644Phe)
c.1328A>T (p.Tyr443Phe)
n.88A>T
c.1838A>T (p.Tyr613Phe)
c.1499A>T (p.Tyr500Phe)
c.1847A>T (p.Tyr616Phe)
c.1955A>T (p.Tyr652Phe)
c.1919A>T (p.Tyr640Phe)
c.1877A>T (p.Tyr626Phe)
c.1679+6118A>T (n.1679+6118A>T)
c.1973A>T (p.Tyr658Phe)
c.2039A>T (p.Tyr680Phe)
c.2036A>T (p.Tyr679Phe)
c.2009A>T (p.Tyr670Phe)
c.1928A>T (p.Tyr643Phe)
c.1913A>T (p.Tyr638Phe)
c.1520A>T (p.Tyr507Phe)
c.1982A>T (p.Tyr661Phe)
c.1916A>T (p.Tyr639Phe)
c.1874A>T (p.Tyr625Phe)
c.947A>T (p.Tyr316Phe)
20g.63407332T>CCA409639425KCNQ2c.1985A>G (p.Tyr662Cys)
c.1931A>G (p.Tyr644Cys)
c.1328A>G (p.Tyr443Cys)
n.88A>G
c.1838A>G (p.Tyr613Cys)
c.1499A>G (p.Tyr500Cys)
c.1847A>G (p.Tyr616Cys)
c.1955A>G (p.Tyr652Cys)
c.1919A>G (p.Tyr640Cys)
c.1877A>G (p.Tyr626Cys)
c.1679+6118A>G (n.1679+6118A>G)
c.1973A>G (p.Tyr658Cys)
c.2039A>G (p.Tyr680Cys)
c.2036A>G (p.Tyr679Cys)
c.2009A>G (p.Tyr670Cys)
c.1928A>G (p.Tyr643Cys)
c.1913A>G (p.Tyr638Cys)
c.1520A>G (p.Tyr507Cys)
c.1982A>G (p.Tyr661Cys)
c.1916A>G (p.Tyr639Cys)
c.1874A>G (p.Tyr625Cys)
c.947A>G (p.Tyr316Cys)
 gnomAD v4
20g.63407332T>GCA409639427KCNQ2c.1985A>C (p.Tyr662Ser)
c.1931A>C (p.Tyr644Ser)
c.1328A>C (p.Tyr443Ser)
n.88A>C
c.1838A>C (p.Tyr613Ser)
c.1499A>C (p.Tyr500Ser)
c.1847A>C (p.Tyr616Ser)
c.1955A>C (p.Tyr652Ser)
c.1919A>C (p.Tyr640Ser)
c.1877A>C (p.Tyr626Ser)
c.1679+6118A>C (n.1679+6118A>C)
c.1973A>C (p.Tyr658Ser)
c.2039A>C (p.Tyr680Ser)
c.2036A>C (p.Tyr679Ser)
c.2009A>C (p.Tyr670Ser)
c.1928A>C (p.Tyr643Ser)
c.1913A>C (p.Tyr638Ser)
c.1520A>C (p.Tyr507Ser)
c.1982A>C (p.Tyr661Ser)
c.1916A>C (p.Tyr639Ser)
c.1874A>C (p.Tyr625Ser)
c.947A>C (p.Tyr316Ser)
20g.63407332T=CA2374774554KCNQ2c.1985A= (p.Tyr662=)
c.1931A= (p.Tyr644=)
c.1328A= (p.Tyr443=)
n.88A=
c.1838A= (p.Tyr613=)
c.1499A= (p.Tyr500=)
c.1847A= (p.Tyr616=)
c.1955A= (p.Tyr652=)
c.1919A= (p.Tyr640=)
c.1877A= (p.Tyr626=)
c.1679+6118A= (n.1679+6118A=)
c.1973A= (p.Tyr658=)
c.2039A= (p.Tyr680=)
c.2036A= (p.Tyr679=)
c.2009A= (p.Tyr670=)
c.1928A= (p.Tyr643=)
c.1913A= (p.Tyr638=)
c.1520A= (p.Tyr507=)
c.1982A= (p.Tyr661=)
c.1916A= (p.Tyr639=)
c.1874A= (p.Tyr625=)
c.947A= (p.Tyr316=)
20g.63407332_63407333delinsTACA2374774553KCNQ2c.1984_1985delinsTA (p.Tyr662=)
c.1930_1931delinsTA (p.Tyr644=)
c.1327_1328delinsTA (p.Tyr443=)
n.87_88delinsTA
c.1837_1838delinsTA (p.Tyr613=)
c.1498_1499delinsTA (p.Tyr500=)
c.1846_1847delinsTA (p.Tyr616=)
c.1954_1955delinsTA (p.Tyr652=)
c.1918_1919delinsTA (p.Tyr640=)
c.1876_1877delinsTA (p.Tyr626=)
c.1679+6117_1679+6118delinsTA (n.1679+6117_1679+6118delinsTA)
c.1972_1973delinsTA (p.Tyr658=)
c.2038_2039delinsTA (p.Tyr680=)
c.2035_2036delinsTA (p.Tyr679=)
c.2008_2009delinsTA (p.Tyr670=)
c.1927_1928delinsTA (p.Tyr643=)
c.1912_1913delinsTA (p.Tyr638=)
c.1519_1520delinsTA (p.Tyr507=)
c.1981_1982delinsTA (p.Tyr661=)
c.1915_1916delinsTA (p.Tyr639=)
c.1873_1874delinsTA (p.Tyr625=)
c.946_947delinsTA (p.Tyr316=)
20g.63407333delCA342481KCNQ2c.1984del (p.Tyr662ThrfsTer?)
c.1930del (p.Tyr644ThrfsTer?)
c.1327del (p.Tyr443ThrfsTer?)
n.87del
c.1837del (p.Tyr613ThrfsTer?)
c.1498del (p.Tyr500ThrfsTer?)
c.1846del (p.Tyr616ThrfsTer?)
c.1954del (p.Tyr652ThrfsTer?)
c.1918del (p.Tyr640ThrfsTer?)
c.1876del (p.Tyr626ThrfsTer?)
c.1679+6117del (n.1679+6117del)
c.1972del (p.Tyr658ThrfsTer?)
c.2038del (p.Tyr680ThrfsTer?)
c.2035del (p.Tyr679ThrfsTer?)
c.2008del (p.Tyr670ThrfsTer?)
c.1927del (p.Tyr643ThrfsTer?)
c.1912del (p.Tyr638ThrfsTer?)
c.1519del (p.Tyr507ThrfsTer?)
c.1981del (p.Tyr661ThrfsTer?)
c.1915del (p.Tyr639ThrfsTer?)
c.1873del (p.Tyr625ThrfsTer?)
c.946del (p.Tyr316ThrfsTer?)
 ClinVar dbSNP
20g.63407333A>CCA409639432KCNQ2c.1984T>G (p.Tyr662Asp)
c.1930T>G (p.Tyr644Asp)
c.1327T>G (p.Tyr443Asp)
n.87T>G
c.1837T>G (p.Tyr613Asp)
c.1498T>G (p.Tyr500Asp)
c.1846T>G (p.Tyr616Asp)
c.1954T>G (p.Tyr652Asp)
c.1918T>G (p.Tyr640Asp)
c.1876T>G (p.Tyr626Asp)
c.1679+6117T>G (n.1679+6117T>G)
c.1972T>G (p.Tyr658Asp)
c.2038T>G (p.Tyr680Asp)
c.2035T>G (p.Tyr679Asp)
c.2008T>G (p.Tyr670Asp)
c.1927T>G (p.Tyr643Asp)
c.1912T>G (p.Tyr638Asp)
c.1519T>G (p.Tyr507Asp)
c.1981T>G (p.Tyr661Asp)
c.1915T>G (p.Tyr639Asp)
c.1873T>G (p.Tyr625Asp)
c.946T>G (p.Tyr316Asp)
20g.63407333A>GCA409639433KCNQ2c.1984T>C (p.Tyr662His)
c.1930T>C (p.Tyr644His)
c.1327T>C (p.Tyr443His)
n.87T>C
c.1837T>C (p.Tyr613His)
c.1498T>C (p.Tyr500His)
c.1846T>C (p.Tyr616His)
c.1954T>C (p.Tyr652His)
c.1918T>C (p.Tyr640His)
c.1876T>C (p.Tyr626His)
c.1679+6117T>C (n.1679+6117T>C)
c.1972T>C (p.Tyr658His)
c.2038T>C (p.Tyr680His)
c.2035T>C (p.Tyr679His)
c.2008T>C (p.Tyr670His)
c.1927T>C (p.Tyr643His)
c.1912T>C (p.Tyr638His)
c.1519T>C (p.Tyr507His)
c.1981T>C (p.Tyr661His)
c.1915T>C (p.Tyr639His)
c.1873T>C (p.Tyr625His)
c.946T>C (p.Tyr316His)
20g.63407333A>TCA409639434KCNQ2c.1984T>A (p.Tyr662Asn)
c.1930T>A (p.Tyr644Asn)
c.1327T>A (p.Tyr443Asn)
n.87T>A
c.1837T>A (p.Tyr613Asn)
c.1498T>A (p.Tyr500Asn)
c.1846T>A (p.Tyr616Asn)
c.1954T>A (p.Tyr652Asn)
c.1918T>A (p.Tyr640Asn)
c.1876T>A (p.Tyr626Asn)
c.1679+6117T>A (n.1679+6117T>A)
c.1972T>A (p.Tyr658Asn)
c.2038T>A (p.Tyr680Asn)
c.2035T>A (p.Tyr679Asn)
c.2008T>A (p.Tyr670Asn)
c.1927T>A (p.Tyr643Asn)
c.1912T>A (p.Tyr638Asn)
c.1519T>A (p.Tyr507Asn)
c.1981T>A (p.Tyr661Asn)
c.1915T>A (p.Tyr639Asn)
c.1873T>A (p.Tyr625Asn)
c.946T>A (p.Tyr316Asn)
20g.63407333dupCA315551KCNQ2c.1984dup (p.Tyr662LeufsTer?)
c.1930dup (p.Tyr644LeufsTer?)
c.1327dup (p.Tyr443LeufsTer?)
n.87dup
c.1837dup (p.Tyr613LeufsTer?)
c.1498dup (p.Tyr500LeufsTer?)
c.1846dup (p.Tyr616LeufsTer?)
c.1954dup (p.Tyr652LeufsTer?)
c.1918dup (p.Tyr640LeufsTer?)
c.1876dup (p.Tyr626LeufsTer?)
c.1679+6117dup (n.1679+6117dup)
c.1972dup (p.Tyr658LeufsTer?)
c.2038dup (p.Tyr680LeufsTer?)
c.2035dup (p.Tyr679LeufsTer?)
c.2008dup (p.Tyr670LeufsTer?)
c.1927dup (p.Tyr643LeufsTer?)
c.1912dup (p.Tyr638LeufsTer?)
c.1519dup (p.Tyr507LeufsTer?)
c.1981dup (p.Tyr661LeufsTer?)
c.1915dup (p.Tyr639LeufsTer?)
c.1873dup (p.Tyr625LeufsTer?)
c.946dup (p.Tyr316LeufsTer?)
 ClinVar dbSNP
20g.63407334G>ACA9958198KCNQ2c.1983C>T (p.Ile661=)
c.1929C>T (p.Ile643=)
c.1326C>T (p.Ile442=)
n.86C>T
c.1836C>T (p.Ile612=)
c.1497C>T (p.Ile499=)
c.1845C>T (p.Ile615=)
c.1953C>T (p.Ile651=)
c.1917C>T (p.Ile639=)
c.1875C>T (p.Ile625=)
c.1679+6116C>T (n.1679+6116C>T)
c.1971C>T (p.Ile657=)
c.2037C>T (p.Ile679=)
c.2034C>T (p.Ile678=)
c.2007C>T (p.Ile669=)
c.1926C>T (p.Ile642=)
c.1911C>T (p.Ile637=)
c.1518C>T (p.Ile506=)
c.1980C>T (p.Ile660=)
c.1914C>T (p.Ile638=)
c.1872C>T (p.Ile624=)
c.945C>T (p.Ile315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407334G>CCA409639437KCNQ2c.1983C>G (p.Ile661Met)
c.1929C>G (p.Ile643Met)
c.1326C>G (p.Ile442Met)
n.86C>G
c.1836C>G (p.Ile612Met)
c.1497C>G (p.Ile499Met)
c.1845C>G (p.Ile615Met)
c.1953C>G (p.Ile651Met)
c.1917C>G (p.Ile639Met)
c.1875C>G (p.Ile625Met)
c.1679+6116C>G (n.1679+6116C>G)
c.1971C>G (p.Ile657Met)
c.2037C>G (p.Ile679Met)
c.2034C>G (p.Ile678Met)
c.2007C>G (p.Ile669Met)
c.1926C>G (p.Ile642Met)
c.1911C>G (p.Ile637Met)
c.1518C>G (p.Ile506Met)
c.1980C>G (p.Ile660Met)
c.1914C>G (p.Ile638Met)
c.1872C>G (p.Ile624Met)
c.945C>G (p.Ile315Met)
20g.63407334G=CA2374774555KCNQ2c.1983C= (p.Ile661=)
c.1929C= (p.Ile643=)
c.1326C= (p.Ile442=)
n.86C=
c.1836C= (p.Ile612=)
c.1497C= (p.Ile499=)
c.1845C= (p.Ile615=)
c.1953C= (p.Ile651=)
c.1917C= (p.Ile639=)
c.1875C= (p.Ile625=)
c.1679+6116C= (n.1679+6116C=)
c.1971C= (p.Ile657=)
c.2037C= (p.Ile679=)
c.2034C= (p.Ile678=)
c.2007C= (p.Ile669=)
c.1926C= (p.Ile642=)
c.1911C= (p.Ile637=)
c.1518C= (p.Ile506=)
c.1980C= (p.Ile660=)
c.1914C= (p.Ile638=)
c.1872C= (p.Ile624=)
c.945C= (p.Ile315=)
20g.63407334G>TCA511339626KCNQ2c.1983C>A (p.Ile661=)
c.1929C>A (p.Ile643=)
c.1326C>A (p.Ile442=)
n.86C>A
c.1836C>A (p.Ile612=)
c.1497C>A (p.Ile499=)
c.1845C>A (p.Ile615=)
c.1953C>A (p.Ile651=)
c.1917C>A (p.Ile639=)
c.1875C>A (p.Ile625=)
c.1679+6116C>A (n.1679+6116C>A)
c.1971C>A (p.Ile657=)
c.2037C>A (p.Ile679=)
c.2034C>A (p.Ile678=)
c.2007C>A (p.Ile669=)
c.1926C>A (p.Ile642=)
c.1911C>A (p.Ile637=)
c.1518C>A (p.Ile506=)
c.1980C>A (p.Ile660=)
c.1914C>A (p.Ile638=)
c.1872C>A (p.Ile624=)
c.945C>A (p.Ile315=)
20g.63407335A>CCA409639440KCNQ2c.1982T>G (p.Ile661Ser)
c.1928T>G (p.Ile643Ser)
c.1325T>G (p.Ile442Ser)
n.85T>G
c.1835T>G (p.Ile612Ser)
c.1496T>G (p.Ile499Ser)
c.1844T>G (p.Ile615Ser)
c.1952T>G (p.Ile651Ser)
c.1916T>G (p.Ile639Ser)
c.1874T>G (p.Ile625Ser)
c.1679+6115T>G (n.1679+6115T>G)
c.1970T>G (p.Ile657Ser)
c.2036T>G (p.Ile679Ser)
c.2033T>G (p.Ile678Ser)
c.2006T>G (p.Ile669Ser)
c.1925T>G (p.Ile642Ser)
c.1910T>G (p.Ile637Ser)
c.1517T>G (p.Ile506Ser)
c.1979T>G (p.Ile660Ser)
c.1913T>G (p.Ile638Ser)
c.1871T>G (p.Ile624Ser)
c.944T>G (p.Ile315Ser)
20g.63407335A>GCA409639441KCNQ2c.1982T>C (p.Ile661Thr)
c.1928T>C (p.Ile643Thr)
c.1325T>C (p.Ile442Thr)
n.85T>C
c.1835T>C (p.Ile612Thr)
c.1496T>C (p.Ile499Thr)
c.1844T>C (p.Ile615Thr)
c.1952T>C (p.Ile651Thr)
c.1916T>C (p.Ile639Thr)
c.1874T>C (p.Ile625Thr)
c.1679+6115T>C (n.1679+6115T>C)
c.1970T>C (p.Ile657Thr)
c.2036T>C (p.Ile679Thr)
c.2033T>C (p.Ile678Thr)
c.2006T>C (p.Ile669Thr)
c.1925T>C (p.Ile642Thr)
c.1910T>C (p.Ile637Thr)
c.1517T>C (p.Ile506Thr)
c.1979T>C (p.Ile660Thr)
c.1913T>C (p.Ile638Thr)
c.1871T>C (p.Ile624Thr)
c.944T>C (p.Ile315Thr)
20g.63407335A>TCA409639439KCNQ2c.1982T>A (p.Ile661Asn)
c.1928T>A (p.Ile643Asn)
c.1325T>A (p.Ile442Asn)
n.85T>A
c.1835T>A (p.Ile612Asn)
c.1496T>A (p.Ile499Asn)
c.1844T>A (p.Ile615Asn)
c.1952T>A (p.Ile651Asn)
c.1916T>A (p.Ile639Asn)
c.1874T>A (p.Ile625Asn)
c.1679+6115T>A (n.1679+6115T>A)
c.1970T>A (p.Ile657Asn)
c.2036T>A (p.Ile679Asn)
c.2033T>A (p.Ile678Asn)
c.2006T>A (p.Ile669Asn)
c.1925T>A (p.Ile642Asn)
c.1910T>A (p.Ile637Asn)
c.1517T>A (p.Ile506Asn)
c.1979T>A (p.Ile660Asn)
c.1913T>A (p.Ile638Asn)
c.1871T>A (p.Ile624Asn)
c.944T>A (p.Ile315Asn)
20g.63407336T>ACA409639443KCNQ2c.1981A>T (p.Ile661Phe)
c.1927A>T (p.Ile643Phe)
c.1324A>T (p.Ile442Phe)
n.84A>T
c.1834A>T (p.Ile612Phe)
c.1495A>T (p.Ile499Phe)
c.1843A>T (p.Ile615Phe)
c.1951A>T (p.Ile651Phe)
c.1915A>T (p.Ile639Phe)
c.1873A>T (p.Ile625Phe)
c.1679+6114A>T (n.1679+6114A>T)
c.1969A>T (p.Ile657Phe)
c.2035A>T (p.Ile679Phe)
c.2032A>T (p.Ile678Phe)
c.2005A>T (p.Ile669Phe)
c.1924A>T (p.Ile642Phe)
c.1909A>T (p.Ile637Phe)
c.1516A>T (p.Ile506Phe)
c.1978A>T (p.Ile660Phe)
c.1912A>T (p.Ile638Phe)
c.1870A>T (p.Ile624Phe)
c.943A>T (p.Ile315Phe)
20g.63407336T>CCA317422617KCNQ2c.1981A>G (p.Ile661Val)
c.1927A>G (p.Ile643Val)
c.1324A>G (p.Ile442Val)
n.84A>G
c.1834A>G (p.Ile612Val)
c.1495A>G (p.Ile499Val)
c.1843A>G (p.Ile615Val)
c.1951A>G (p.Ile651Val)
c.1915A>G (p.Ile639Val)
c.1873A>G (p.Ile625Val)
c.1679+6114A>G (n.1679+6114A>G)
c.1969A>G (p.Ile657Val)
c.2035A>G (p.Ile679Val)
c.2032A>G (p.Ile678Val)
c.2005A>G (p.Ile669Val)
c.1924A>G (p.Ile642Val)
c.1909A>G (p.Ile637Val)
c.1516A>G (p.Ile506Val)
c.1978A>G (p.Ile660Val)
c.1912A>G (p.Ile638Val)
c.1870A>G (p.Ile624Val)
c.943A>G (p.Ile315Val)
 dbSNP
20g.63407336T>GCA409639444KCNQ2c.1981A>C (p.Ile661Leu)
c.1927A>C (p.Ile643Leu)
c.1324A>C (p.Ile442Leu)
n.84A>C
c.1834A>C (p.Ile612Leu)
c.1495A>C (p.Ile499Leu)
c.1843A>C (p.Ile615Leu)
c.1951A>C (p.Ile651Leu)
c.1915A>C (p.Ile639Leu)
c.1873A>C (p.Ile625Leu)
c.1679+6114A>C (n.1679+6114A>C)
c.1969A>C (p.Ile657Leu)
c.2035A>C (p.Ile679Leu)
c.2032A>C (p.Ile678Leu)
c.2005A>C (p.Ile669Leu)
c.1924A>C (p.Ile642Leu)
c.1909A>C (p.Ile637Leu)
c.1516A>C (p.Ile506Leu)
c.1978A>C (p.Ile660Leu)
c.1912A>C (p.Ile638Leu)
c.1870A>C (p.Ile624Leu)
c.943A>C (p.Ile315Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407336T=CA2374774556KCNQ2c.1981A= (p.Ile661=)
c.1927A= (p.Ile643=)
c.1324A= (p.Ile442=)
n.84A=
c.1834A= (p.Ile612=)
c.1495A= (p.Ile499=)
c.1843A= (p.Ile615=)
c.1951A= (p.Ile651=)
c.1915A= (p.Ile639=)
c.1873A= (p.Ile625=)
c.1679+6114A= (n.1679+6114A=)
c.1969A= (p.Ile657=)
c.2035A= (p.Ile679=)
c.2032A= (p.Ile678=)
c.2005A= (p.Ile669=)
c.1924A= (p.Ile642=)
c.1909A= (p.Ile637=)
c.1516A= (p.Ile506=)
c.1978A= (p.Ile660=)
c.1912A= (p.Ile638=)
c.1870A= (p.Ile624=)
c.943A= (p.Ile315=)
20g.63407337A>CCA409639448KCNQ2c.1980T>G (p.Asn660Lys)
c.1926T>G (p.Asn642Lys)
c.1323T>G (p.Asn441Lys)
n.83T>G
c.1833T>G (p.Asn611Lys)
c.1494T>G (p.Asn498Lys)
c.1842T>G (p.Asn614Lys)
c.1950T>G (p.Asn650Lys)
c.1914T>G (p.Asn638Lys)
c.1872T>G (p.Asn624Lys)
c.1679+6113T>G (n.1679+6113T>G)
c.1968T>G (p.Asn656Lys)
c.2034T>G (p.Asn678Lys)
c.2031T>G (p.Asn677Lys)
c.2004T>G (p.Asn668Lys)
c.1923T>G (p.Asn641Lys)
c.1908T>G (p.Asn636Lys)
c.1515T>G (p.Asn505Lys)
c.1977T>G (p.Asn659Lys)
c.1911T>G (p.Asn637Lys)
c.1869T>G (p.Asn623Lys)
c.942T>G (p.Asn314Lys)
20g.63407337A>GCA511339636KCNQ2c.1980T>C (p.Asn660=)
c.1926T>C (p.Asn642=)
c.1323T>C (p.Asn441=)
n.83T>C
c.1833T>C (p.Asn611=)
c.1494T>C (p.Asn498=)
c.1842T>C (p.Asn614=)
c.1950T>C (p.Asn650=)
c.1914T>C (p.Asn638=)
c.1872T>C (p.Asn624=)
c.1679+6113T>C (n.1679+6113T>C)
c.1968T>C (p.Asn656=)
c.2034T>C (p.Asn678=)
c.2031T>C (p.Asn677=)
c.2004T>C (p.Asn668=)
c.1923T>C (p.Asn641=)
c.1908T>C (p.Asn636=)
c.1515T>C (p.Asn505=)
c.1977T>C (p.Asn659=)
c.1911T>C (p.Asn637=)
c.1869T>C (p.Asn623=)
c.942T>C (p.Asn314=)
 gnomAD v4
20g.63407337A>TCA409639449KCNQ2c.1980T>A (p.Asn660Lys)
c.1926T>A (p.Asn642Lys)
c.1323T>A (p.Asn441Lys)
n.83T>A
c.1833T>A (p.Asn611Lys)
c.1494T>A (p.Asn498Lys)
c.1842T>A (p.Asn614Lys)
c.1950T>A (p.Asn650Lys)
c.1914T>A (p.Asn638Lys)
c.1872T>A (p.Asn624Lys)
c.1679+6113T>A (n.1679+6113T>A)
c.1968T>A (p.Asn656Lys)
c.2034T>A (p.Asn678Lys)
c.2031T>A (p.Asn677Lys)
c.2004T>A (p.Asn668Lys)
c.1923T>A (p.Asn641Lys)
c.1908T>A (p.Asn636Lys)
c.1515T>A (p.Asn505Lys)
c.1977T>A (p.Asn659Lys)
c.1911T>A (p.Asn637Lys)
c.1869T>A (p.Asn623Lys)
c.942T>A (p.Asn314Lys)
20g.63407338T>ACA409639451KCNQ2c.1979A>T (p.Asn660Ile)
c.1925A>T (p.Asn642Ile)
c.1322A>T (p.Asn441Ile)
n.82A>T
c.1832A>T (p.Asn611Ile)
c.1493A>T (p.Asn498Ile)
c.1841A>T (p.Asn614Ile)
c.1949A>T (p.Asn650Ile)
c.1913A>T (p.Asn638Ile)
c.1871A>T (p.Asn624Ile)
c.1679+6112A>T (n.1679+6112A>T)
c.1967A>T (p.Asn656Ile)
c.2033A>T (p.Asn678Ile)
c.2030A>T (p.Asn677Ile)
c.2003A>T (p.Asn668Ile)
c.1922A>T (p.Asn641Ile)
c.1907A>T (p.Asn636Ile)
c.1514A>T (p.Asn505Ile)
c.1976A>T (p.Asn659Ile)
c.1910A>T (p.Asn637Ile)
c.1868A>T (p.Asn623Ile)
c.941A>T (p.Asn314Ile)
20g.63407338T>CCA409639455KCNQ2c.1979A>G (p.Asn660Ser)
c.1925A>G (p.Asn642Ser)
c.1322A>G (p.Asn441Ser)
n.82A>G
c.1832A>G (p.Asn611Ser)
c.1493A>G (p.Asn498Ser)
c.1841A>G (p.Asn614Ser)
c.1949A>G (p.Asn650Ser)
c.1913A>G (p.Asn638Ser)
c.1871A>G (p.Asn624Ser)
c.1679+6112A>G (n.1679+6112A>G)
c.1967A>G (p.Asn656Ser)
c.2033A>G (p.Asn678Ser)
c.2030A>G (p.Asn677Ser)
c.2003A>G (p.Asn668Ser)
c.1922A>G (p.Asn641Ser)
c.1907A>G (p.Asn636Ser)
c.1514A>G (p.Asn505Ser)
c.1976A>G (p.Asn659Ser)
c.1910A>G (p.Asn637Ser)
c.1868A>G (p.Asn623Ser)
c.941A>G (p.Asn314Ser)
20g.63407338T>GCA409639453KCNQ2c.1979A>C (p.Asn660Thr)
c.1925A>C (p.Asn642Thr)
c.1322A>C (p.Asn441Thr)
n.82A>C
c.1832A>C (p.Asn611Thr)
c.1493A>C (p.Asn498Thr)
c.1841A>C (p.Asn614Thr)
c.1949A>C (p.Asn650Thr)
c.1913A>C (p.Asn638Thr)
c.1871A>C (p.Asn624Thr)
c.1679+6112A>C (n.1679+6112A>C)
c.1967A>C (p.Asn656Thr)
c.2033A>C (p.Asn678Thr)
c.2030A>C (p.Asn677Thr)
c.2003A>C (p.Asn668Thr)
c.1922A>C (p.Asn641Thr)
c.1907A>C (p.Asn636Thr)
c.1514A>C (p.Asn505Thr)
c.1976A>C (p.Asn659Thr)
c.1910A>C (p.Asn637Thr)
c.1868A>C (p.Asn623Thr)
c.941A>C (p.Asn314Thr)
20g.63407339T>ACA409639457KCNQ2c.1978A>T (p.Asn660Tyr)
c.1924A>T (p.Asn642Tyr)
c.1321A>T (p.Asn441Tyr)
n.81A>T
c.1831A>T (p.Asn611Tyr)
c.1492A>T (p.Asn498Tyr)
c.1840A>T (p.Asn614Tyr)
c.1948A>T (p.Asn650Tyr)
c.1912A>T (p.Asn638Tyr)
c.1870A>T (p.Asn624Tyr)
c.1679+6111A>T (n.1679+6111A>T)
c.1966A>T (p.Asn656Tyr)
c.2032A>T (p.Asn678Tyr)
c.2029A>T (p.Asn677Tyr)
c.2002A>T (p.Asn668Tyr)
c.1921A>T (p.Asn641Tyr)
c.1906A>T (p.Asn636Tyr)
c.1513A>T (p.Asn505Tyr)
c.1975A>T (p.Asn659Tyr)
c.1909A>T (p.Asn637Tyr)
c.1867A>T (p.Asn623Tyr)
c.940A>T (p.Asn314Tyr)
20g.63407339T>CCA409639459KCNQ2c.1978A>G (p.Asn660Asp)
c.1924A>G (p.Asn642Asp)
c.1321A>G (p.Asn441Asp)
n.81A>G
c.1831A>G (p.Asn611Asp)
c.1492A>G (p.Asn498Asp)
c.1840A>G (p.Asn614Asp)
c.1948A>G (p.Asn650Asp)
c.1912A>G (p.Asn638Asp)
c.1870A>G (p.Asn624Asp)
c.1679+6111A>G (n.1679+6111A>G)
c.1966A>G (p.Asn656Asp)
c.2032A>G (p.Asn678Asp)
c.2029A>G (p.Asn677Asp)
c.2002A>G (p.Asn668Asp)
c.1921A>G (p.Asn641Asp)
c.1906A>G (p.Asn636Asp)
c.1513A>G (p.Asn505Asp)
c.1975A>G (p.Asn659Asp)
c.1909A>G (p.Asn637Asp)
c.1867A>G (p.Asn623Asp)
c.940A>G (p.Asn314Asp)
20g.63407339T>GCA409639458KCNQ2c.1978A>C (p.Asn660His)
c.1924A>C (p.Asn642His)
c.1321A>C (p.Asn441His)
n.81A>C
c.1831A>C (p.Asn611His)
c.1492A>C (p.Asn498His)
c.1840A>C (p.Asn614His)
c.1948A>C (p.Asn650His)
c.1912A>C (p.Asn638His)
c.1870A>C (p.Asn624His)
c.1679+6111A>C (n.1679+6111A>C)
c.1966A>C (p.Asn656His)
c.2032A>C (p.Asn678His)
c.2029A>C (p.Asn677His)
c.2002A>C (p.Asn668His)
c.1921A>C (p.Asn641His)
c.1906A>C (p.Asn636His)
c.1513A>C (p.Asn505His)
c.1975A>C (p.Asn659His)
c.1909A>C (p.Asn637His)
c.1867A>C (p.Asn623His)
c.940A>C (p.Asn314His)
20g.63407340C>ACA511339641KCNQ2c.1977G>T (p.Val659=)
c.1923G>T (p.Val641=)
c.1320G>T (p.Val440=)
n.80G>T
c.1830G>T (p.Val610=)
c.1491G>T (p.Val497=)
c.1839G>T (p.Val613=)
c.1947G>T (p.Val649=)
c.1911G>T (p.Val637=)
c.1869G>T (p.Val623=)
c.1679+6110G>T (n.1679+6110G>T)
c.1965G>T (p.Val655=)
c.2031G>T (p.Val677=)
c.2028G>T (p.Val676=)
c.2001G>T (p.Val667=)
c.1920G>T (p.Val640=)
c.1905G>T (p.Val635=)
c.1512G>T (p.Val504=)
c.1974G>T (p.Val658=)
c.1908G>T (p.Val636=)
c.1866G>T (p.Val622=)
c.939G>T (p.Val313=)
20g.63407340C>GCA511339644KCNQ2c.1977G>C (p.Val659=)
c.1923G>C (p.Val641=)
c.1320G>C (p.Val440=)
n.80G>C
c.1830G>C (p.Val610=)
c.1491G>C (p.Val497=)
c.1839G>C (p.Val613=)
c.1947G>C (p.Val649=)
c.1911G>C (p.Val637=)
c.1869G>C (p.Val623=)
c.1679+6110G>C (n.1679+6110G>C)
c.1965G>C (p.Val655=)
c.2031G>C (p.Val677=)
c.2028G>C (p.Val676=)
c.2001G>C (p.Val667=)
c.1920G>C (p.Val640=)
c.1905G>C (p.Val635=)
c.1512G>C (p.Val504=)
c.1974G>C (p.Val658=)
c.1908G>C (p.Val636=)
c.1866G>C (p.Val622=)
c.939G>C (p.Val313=)
20g.63407340C>TCA511339647KCNQ2c.1977G>A (p.Val659=)
c.1923G>A (p.Val641=)
c.1320G>A (p.Val440=)
n.80G>A
c.1830G>A (p.Val610=)
c.1491G>A (p.Val497=)
c.1839G>A (p.Val613=)
c.1947G>A (p.Val649=)
c.1911G>A (p.Val637=)
c.1869G>A (p.Val623=)
c.1679+6110G>A (n.1679+6110G>A)
c.1965G>A (p.Val655=)
c.2031G>A (p.Val677=)
c.2028G>A (p.Val676=)
c.2001G>A (p.Val667=)
c.1920G>A (p.Val640=)
c.1905G>A (p.Val635=)
c.1512G>A (p.Val504=)
c.1974G>A (p.Val658=)
c.1908G>A (p.Val636=)
c.1866G>A (p.Val622=)
c.939G>A (p.Val313=)
 ClinVar dbSNP
20g.63407341A>CCA409639460KCNQ2c.1976T>G (p.Val659Gly)
c.1922T>G (p.Val641Gly)
c.1319T>G (p.Val440Gly)
n.79T>G
c.1829T>G (p.Val610Gly)
c.1490T>G (p.Val497Gly)
c.1838T>G (p.Val613Gly)
c.1946T>G (p.Val649Gly)
c.1910T>G (p.Val637Gly)
c.1868T>G (p.Val623Gly)
c.1679+6109T>G (n.1679+6109T>G)
c.1964T>G (p.Val655Gly)
c.2030T>G (p.Val677Gly)
c.2027T>G (p.Val676Gly)
c.2000T>G (p.Val667Gly)
c.1919T>G (p.Val640Gly)
c.1904T>G (p.Val635Gly)
c.1511T>G (p.Val504Gly)
c.1973T>G (p.Val658Gly)
c.1907T>G (p.Val636Gly)
c.1865T>G (p.Val622Gly)
c.938T>G (p.Val313Gly)
20g.63407341A>GCA409639462KCNQ2c.1976T>C (p.Val659Ala)
c.1922T>C (p.Val641Ala)
c.1319T>C (p.Val440Ala)
n.79T>C
c.1829T>C (p.Val610Ala)
c.1490T>C (p.Val497Ala)
c.1838T>C (p.Val613Ala)
c.1946T>C (p.Val649Ala)
c.1910T>C (p.Val637Ala)
c.1868T>C (p.Val623Ala)
c.1679+6109T>C (n.1679+6109T>C)
c.1964T>C (p.Val655Ala)
c.2030T>C (p.Val677Ala)
c.2027T>C (p.Val676Ala)
c.2000T>C (p.Val667Ala)
c.1919T>C (p.Val640Ala)
c.1904T>C (p.Val635Ala)
c.1511T>C (p.Val504Ala)
c.1973T>C (p.Val658Ala)
c.1907T>C (p.Val636Ala)
c.1865T>C (p.Val622Ala)
c.938T>C (p.Val313Ala)
20g.63407341A>TCA409639461KCNQ2c.1976T>A (p.Val659Glu)
c.1922T>A (p.Val641Glu)
c.1319T>A (p.Val440Glu)
n.79T>A
c.1829T>A (p.Val610Glu)
c.1490T>A (p.Val497Glu)
c.1838T>A (p.Val613Glu)
c.1946T>A (p.Val649Glu)
c.1910T>A (p.Val637Glu)
c.1868T>A (p.Val623Glu)
c.1679+6109T>A (n.1679+6109T>A)
c.1964T>A (p.Val655Glu)
c.2030T>A (p.Val677Glu)
c.2027T>A (p.Val676Glu)
c.2000T>A (p.Val667Glu)
c.1919T>A (p.Val640Glu)
c.1904T>A (p.Val635Glu)
c.1511T>A (p.Val504Glu)
c.1973T>A (p.Val658Glu)
c.1907T>A (p.Val636Glu)
c.1865T>A (p.Val622Glu)
c.938T>A (p.Val313Glu)
20g.63407342C>ACA409639463KCNQ2c.1975G>T (p.Val659Leu)
c.1921G>T (p.Val641Leu)
c.1318G>T (p.Val440Leu)
n.78G>T
c.1828G>T (p.Val610Leu)
c.1489G>T (p.Val497Leu)
c.1837G>T (p.Val613Leu)
c.1945G>T (p.Val649Leu)
c.1909G>T (p.Val637Leu)
c.1867G>T (p.Val623Leu)
c.1679+6108G>T (n.1679+6108G>T)
c.1963G>T (p.Val655Leu)
c.2029G>T (p.Val677Leu)
c.2026G>T (p.Val676Leu)
c.1999G>T (p.Val667Leu)
c.1918G>T (p.Val640Leu)
c.1903G>T (p.Val635Leu)
c.1510G>T (p.Val504Leu)
c.1972G>T (p.Val658Leu)
c.1906G>T (p.Val636Leu)
c.1864G>T (p.Val622Leu)
c.937G>T (p.Val313Leu)
20g.63407342C=CA2374774557KCNQ2c.1975G= (p.Val659=)
c.1921G= (p.Val641=)
c.1318G= (p.Val440=)
n.78G=
c.1828G= (p.Val610=)
c.1489G= (p.Val497=)
c.1837G= (p.Val613=)
c.1945G= (p.Val649=)
c.1909G= (p.Val637=)
c.1867G= (p.Val623=)
c.1679+6108G= (n.1679+6108G=)
c.1963G= (p.Val655=)
c.2029G= (p.Val677=)
c.2026G= (p.Val676=)
c.1999G= (p.Val667=)
c.1918G= (p.Val640=)
c.1903G= (p.Val635=)
c.1510G= (p.Val504=)
c.1972G= (p.Val658=)
c.1906G= (p.Val636=)
c.1864G= (p.Val622=)
c.937G= (p.Val313=)
20g.63407342C>GCA409639464KCNQ2c.1975G>C (p.Val659Leu)
c.1921G>C (p.Val641Leu)
c.1318G>C (p.Val440Leu)
n.78G>C
c.1828G>C (p.Val610Leu)
c.1489G>C (p.Val497Leu)
c.1837G>C (p.Val613Leu)
c.1945G>C (p.Val649Leu)
c.1909G>C (p.Val637Leu)
c.1867G>C (p.Val623Leu)
c.1679+6108G>C (n.1679+6108G>C)
c.1963G>C (p.Val655Leu)
c.2029G>C (p.Val677Leu)
c.2026G>C (p.Val676Leu)
c.1999G>C (p.Val667Leu)
c.1918G>C (p.Val640Leu)
c.1903G>C (p.Val635Leu)
c.1510G>C (p.Val504Leu)
c.1972G>C (p.Val658Leu)
c.1906G>C (p.Val636Leu)
c.1864G>C (p.Val622Leu)
c.937G>C (p.Val313Leu)
 gnomAD v4
20g.63407342C>TCA9958199KCNQ2c.1975G>A (p.Val659Met)
c.1921G>A (p.Val641Met)
c.1318G>A (p.Val440Met)
n.78G>A
c.1828G>A (p.Val610Met)
c.1489G>A (p.Val497Met)
c.1837G>A (p.Val613Met)
c.1945G>A (p.Val649Met)
c.1909G>A (p.Val637Met)
c.1867G>A (p.Val623Met)
c.1679+6108G>A (n.1679+6108G>A)
c.1963G>A (p.Val655Met)
c.2029G>A (p.Val677Met)
c.2026G>A (p.Val676Met)
c.1999G>A (p.Val667Met)
c.1918G>A (p.Val640Met)
c.1903G>A (p.Val635Met)
c.1510G>A (p.Val504Met)
c.1972G>A (p.Val658Met)
c.1906G>A (p.Val636Met)
c.1864G>A (p.Val622Met)
c.937G>A (p.Val313Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63407343delCA2695230037KCNQ2c.1975del (p.Val659Ter)
c.1921del (p.Val641Ter)
c.1318del (p.Val440Ter)
n.78del
c.1828del (p.Val610Ter)
c.1489del (p.Val497Ter)
c.1837del (p.Val613Ter)
c.1945del (p.Val649Ter)
c.1909del (p.Val637Ter)
c.1867del (p.Val623Ter)
c.1679+6108del (n.1679+6108del)
c.1963del (p.Val655Ter)
c.2029del (p.Val677Ter)
c.2026del (p.Val676Ter)
c.1999del (p.Val667Ter)
c.1918del (p.Val640Ter)
c.1903del (p.Val635Ter)
c.1510del (p.Val504Ter)
c.1972del (p.Val658Ter)
c.1906del (p.Val636Ter)
c.1864del (p.Val622Ter)
c.937del (p.Val313Ter)
20g.63407343C>ACA511339651KCNQ2c.1974G>T (p.Leu658=)
c.1920G>T (p.Leu640=)
c.1317G>T (p.Leu439=)
n.77G>T
c.1827G>T (p.Leu609=)
c.1488G>T (p.Leu496=)
c.1836G>T (p.Leu612=)
c.1944G>T (p.Leu648=)
c.1908G>T (p.Leu636=)
c.1866G>T (p.Leu622=)
c.1679+6107G>T (n.1679+6107G>T)
c.1962G>T (p.Leu654=)
c.2028G>T (p.Leu676=)
c.2025G>T (p.Leu675=)
c.1998G>T (p.Leu666=)
c.1917G>T (p.Leu639=)
c.1902G>T (p.Leu634=)
c.1509G>T (p.Leu503=)
c.1971G>T (p.Leu657=)
c.1905G>T (p.Leu635=)
c.1863G>T (p.Leu621=)
c.936G>T (p.Leu312=)
20g.63407343C>GCA511339652KCNQ2c.1974G>C (p.Leu658=)
c.1920G>C (p.Leu640=)
c.1317G>C (p.Leu439=)
n.77G>C
c.1827G>C (p.Leu609=)
c.1488G>C (p.Leu496=)
c.1836G>C (p.Leu612=)
c.1944G>C (p.Leu648=)
c.1908G>C (p.Leu636=)
c.1866G>C (p.Leu622=)
c.1679+6107G>C (n.1679+6107G>C)
c.1962G>C (p.Leu654=)
c.2028G>C (p.Leu676=)
c.2025G>C (p.Leu675=)
c.1998G>C (p.Leu666=)
c.1917G>C (p.Leu639=)
c.1902G>C (p.Leu634=)
c.1509G>C (p.Leu503=)
c.1971G>C (p.Leu657=)
c.1905G>C (p.Leu635=)
c.1863G>C (p.Leu621=)
c.936G>C (p.Leu312=)
20g.63407343C>TCA511339654KCNQ2c.1974G>A (p.Leu658=)
c.1920G>A (p.Leu640=)
c.1317G>A (p.Leu439=)
n.77G>A
c.1827G>A (p.Leu609=)
c.1488G>A (p.Leu496=)
c.1836G>A (p.Leu612=)
c.1944G>A (p.Leu648=)
c.1908G>A (p.Leu636=)
c.1866G>A (p.Leu622=)
c.1679+6107G>A (n.1679+6107G>A)
c.1962G>A (p.Leu654=)
c.2028G>A (p.Leu676=)
c.2025G>A (p.Leu675=)
c.1998G>A (p.Leu666=)
c.1917G>A (p.Leu639=)
c.1902G>A (p.Leu634=)
c.1509G>A (p.Leu503=)
c.1971G>A (p.Leu657=)
c.1905G>A (p.Leu635=)
c.1863G>A (p.Leu621=)
c.936G>A (p.Leu312=)
20g.63407344A=CA2374774558KCNQ2c.1973T= (p.Leu658=)
c.1919T= (p.Leu640=)
c.1316T= (p.Leu439=)
n.76T=
c.1826T= (p.Leu609=)
c.1487T= (p.Leu496=)
c.1835T= (p.Leu612=)
c.1943T= (p.Leu648=)
c.1907T= (p.Leu636=)
c.1865T= (p.Leu622=)
c.1679+6106T= (n.1679+6106T=)
c.1961T= (p.Leu654=)
c.2027T= (p.Leu676=)
c.2024T= (p.Leu675=)
c.1997T= (p.Leu666=)
c.1916T= (p.Leu639=)
c.1901T= (p.Leu634=)
c.1508T= (p.Leu503=)
c.1970T= (p.Leu657=)
c.1904T= (p.Leu635=)
c.1862T= (p.Leu621=)
c.935T= (p.Leu312=)
20g.63407344A>CCA409639467KCNQ2c.1973T>G (p.Leu658Arg)
c.1919T>G (p.Leu640Arg)
c.1316T>G (p.Leu439Arg)
n.76T>G
c.1826T>G (p.Leu609Arg)
c.1487T>G (p.Leu496Arg)
c.1835T>G (p.Leu612Arg)
c.1943T>G (p.Leu648Arg)
c.1907T>G (p.Leu636Arg)
c.1865T>G (p.Leu622Arg)
c.1679+6106T>G (n.1679+6106T>G)
c.1961T>G (p.Leu654Arg)
c.2027T>G (p.Leu676Arg)
c.2024T>G (p.Leu675Arg)
c.1997T>G (p.Leu666Arg)
c.1916T>G (p.Leu639Arg)
c.1901T>G (p.Leu634Arg)
c.1508T>G (p.Leu503Arg)
c.1970T>G (p.Leu657Arg)
c.1904T>G (p.Leu635Arg)
c.1862T>G (p.Leu621Arg)
c.935T>G (p.Leu312Arg)
20g.63407344A>GCA409639470KCNQ2c.1973T>C (p.Leu658Pro)
c.1919T>C (p.Leu640Pro)
c.1316T>C (p.Leu439Pro)
n.76T>C
c.1826T>C (p.Leu609Pro)
c.1487T>C (p.Leu496Pro)
c.1835T>C (p.Leu612Pro)
c.1943T>C (p.Leu648Pro)
c.1907T>C (p.Leu636Pro)
c.1865T>C (p.Leu622Pro)
c.1679+6106T>C (n.1679+6106T>C)
c.1961T>C (p.Leu654Pro)
c.2027T>C (p.Leu676Pro)
c.2024T>C (p.Leu675Pro)
c.1997T>C (p.Leu666Pro)
c.1916T>C (p.Leu639Pro)
c.1901T>C (p.Leu634Pro)
c.1508T>C (p.Leu503Pro)
c.1970T>C (p.Leu657Pro)
c.1904T>C (p.Leu635Pro)
c.1862T>C (p.Leu621Pro)
c.935T>C (p.Leu312Pro)
 ClinVar dbSNP
20g.63407344A>TCA409639472KCNQ2c.1973T>A (p.Leu658Gln)
c.1919T>A (p.Leu640Gln)
c.1316T>A (p.Leu439Gln)
n.76T>A
c.1826T>A (p.Leu609Gln)
c.1487T>A (p.Leu496Gln)
c.1835T>A (p.Leu612Gln)
c.1943T>A (p.Leu648Gln)
c.1907T>A (p.Leu636Gln)
c.1865T>A (p.Leu622Gln)
c.1679+6106T>A (n.1679+6106T>A)
c.1961T>A (p.Leu654Gln)
c.2027T>A (p.Leu676Gln)
c.2024T>A (p.Leu675Gln)
c.1997T>A (p.Leu666Gln)
c.1916T>A (p.Leu639Gln)
c.1901T>A (p.Leu634Gln)
c.1508T>A (p.Leu503Gln)
c.1970T>A (p.Leu657Gln)
c.1904T>A (p.Leu635Gln)
c.1862T>A (p.Leu621Gln)
c.935T>A (p.Leu312Gln)
20g.63407345G>ACA511339655KCNQ2c.1972C>T (p.Leu658=)
c.1918C>T (p.Leu640=)
c.1315C>T (p.Leu439=)
n.75C>T
c.1825C>T (p.Leu609=)
c.1486C>T (p.Leu496=)
c.1834C>T (p.Leu612=)
c.1942C>T (p.Leu648=)
c.1906C>T (p.Leu636=)
c.1864C>T (p.Leu622=)
c.1679+6105C>T (n.1679+6105C>T)
c.1960C>T (p.Leu654=)
c.2026C>T (p.Leu676=)
c.2023C>T (p.Leu675=)
c.1996C>T (p.Leu666=)
c.1915C>T (p.Leu639=)
c.1900C>T (p.Leu634=)
c.1507C>T (p.Leu503=)
c.1969C>T (p.Leu657=)
c.1903C>T (p.Leu635=)
c.1861C>T (p.Leu621=)
c.934C>T (p.Leu312=)
20g.63407345G>CCA409639475KCNQ2c.1972C>G (p.Leu658Val)
c.1918C>G (p.Leu640Val)
c.1315C>G (p.Leu439Val)
n.75C>G
c.1825C>G (p.Leu609Val)
c.1486C>G (p.Leu496Val)
c.1834C>G (p.Leu612Val)
c.1942C>G (p.Leu648Val)
c.1906C>G (p.Leu636Val)
c.1864C>G (p.Leu622Val)
c.1679+6105C>G (n.1679+6105C>G)
c.1960C>G (p.Leu654Val)
c.2026C>G (p.Leu676Val)
c.2023C>G (p.Leu675Val)
c.1996C>G (p.Leu666Val)
c.1915C>G (p.Leu639Val)
c.1900C>G (p.Leu634Val)
c.1507C>G (p.Leu503Val)
c.1969C>G (p.Leu657Val)
c.1903C>G (p.Leu635Val)
c.1861C>G (p.Leu621Val)
c.934C>G (p.Leu312Val)
20g.63407345G=CA2374774559KCNQ2c.1972C= (p.Leu658=)
c.1918C= (p.Leu640=)
c.1315C= (p.Leu439=)
n.75C=
c.1825C= (p.Leu609=)
c.1486C= (p.Leu496=)
c.1834C= (p.Leu612=)
c.1942C= (p.Leu648=)
c.1906C= (p.Leu636=)
c.1864C= (p.Leu622=)
c.1679+6105C= (n.1679+6105C=)
c.1960C= (p.Leu654=)
c.2026C= (p.Leu676=)
c.2023C= (p.Leu675=)
c.1996C= (p.Leu666=)
c.1915C= (p.Leu639=)
c.1900C= (p.Leu634=)
c.1507C= (p.Leu503=)
c.1969C= (p.Leu657=)
c.1903C= (p.Leu635=)
c.1861C= (p.Leu621=)
c.934C= (p.Leu312=)
20g.63407345G>TCA409639477KCNQ2c.1972C>A (p.Leu658Met)
c.1918C>A (p.Leu640Met)
c.1315C>A (p.Leu439Met)
n.75C>A
c.1825C>A (p.Leu609Met)
c.1486C>A (p.Leu496Met)
c.1834C>A (p.Leu612Met)
c.1942C>A (p.Leu648Met)
c.1906C>A (p.Leu636Met)
c.1864C>A (p.Leu622Met)
c.1679+6105C>A (n.1679+6105C>A)
c.1960C>A (p.Leu654Met)
c.2026C>A (p.Leu676Met)
c.2023C>A (p.Leu675Met)
c.1996C>A (p.Leu666Met)
c.1915C>A (p.Leu639Met)
c.1900C>A (p.Leu634Met)
c.1507C>A (p.Leu503Met)
c.1969C>A (p.Leu657Met)
c.1903C>A (p.Leu635Met)
c.1861C>A (p.Leu621Met)
c.934C>A (p.Leu312Met)
 dbSNP gnomAD v3 gnomAD v4
20g.63407346delCA2695230038KCNQ2c.1972del (p.Leu658TrpfsTer2)
c.1918del (p.Leu640TrpfsTer2)
c.1315del (p.Leu439TrpfsTer2)
n.75del
c.1825del (p.Leu609TrpfsTer2)
c.1486del (p.Leu496TrpfsTer2)
c.1834del (p.Leu612TrpfsTer2)
c.1942del (p.Leu648TrpfsTer2)
c.1906del (p.Leu636TrpfsTer2)
c.1864del (p.Leu622TrpfsTer2)
c.1679+6105del (n.1679+6105del)
c.1960del (p.Leu654TrpfsTer2)
c.2026del (p.Leu676TrpfsTer2)
c.2023del (p.Leu675TrpfsTer2)
c.1996del (p.Leu666TrpfsTer2)
c.1915del (p.Leu639TrpfsTer2)
c.1900del (p.Leu634TrpfsTer2)
c.1507del (p.Leu503TrpfsTer2)
c.1969del (p.Leu657TrpfsTer2)
c.1903del (p.Leu635TrpfsTer2)
c.1861del (p.Leu621TrpfsTer2)
c.934del (p.Leu312TrpfsTer2)
 ClinVar
20g.63407346G>ACA511339656KCNQ2c.1971C>T (p.Phe657=)
c.1917C>T (p.Phe639=)
c.1314C>T (p.Phe438=)
n.74C>T
c.1824C>T (p.Phe608=)
c.1485C>T (p.Phe495=)
c.1833C>T (p.Phe611=)
c.1941C>T (p.Phe647=)
c.1905C>T (p.Phe635=)
c.1863C>T (p.Phe621=)
c.1679+6104C>T (n.1679+6104C>T)
c.1959C>T (p.Phe653=)
c.2025C>T (p.Phe675=)
c.2022C>T (p.Phe674=)
c.1995C>T (p.Phe665=)
c.1914C>T (p.Phe638=)
c.1899C>T (p.Phe633=)
c.1506C>T (p.Phe502=)
c.1968C>T (p.Phe656=)
c.1902C>T (p.Phe634=)
c.1860C>T (p.Phe620=)
c.933C>T (p.Phe311=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407346G>CCA409639479KCNQ2c.1971C>G (p.Phe657Leu)
c.1917C>G (p.Phe639Leu)
c.1314C>G (p.Phe438Leu)
n.74C>G
c.1824C>G (p.Phe608Leu)
c.1485C>G (p.Phe495Leu)
c.1833C>G (p.Phe611Leu)
c.1941C>G (p.Phe647Leu)
c.1905C>G (p.Phe635Leu)
c.1863C>G (p.Phe621Leu)
c.1679+6104C>G (n.1679+6104C>G)
c.1959C>G (p.Phe653Leu)
c.2025C>G (p.Phe675Leu)
c.2022C>G (p.Phe674Leu)
c.1995C>G (p.Phe665Leu)
c.1914C>G (p.Phe638Leu)
c.1899C>G (p.Phe633Leu)
c.1506C>G (p.Phe502Leu)
c.1968C>G (p.Phe656Leu)
c.1902C>G (p.Phe634Leu)
c.1860C>G (p.Phe620Leu)
c.933C>G (p.Phe311Leu)
20g.63407346G=CA2374774560KCNQ2c.1971C= (p.Phe657=)
c.1917C= (p.Phe639=)
c.1314C= (p.Phe438=)
n.74C=
c.1824C= (p.Phe608=)
c.1485C= (p.Phe495=)
c.1833C= (p.Phe611=)
c.1941C= (p.Phe647=)
c.1905C= (p.Phe635=)
c.1863C= (p.Phe621=)
c.1679+6104C= (n.1679+6104C=)
c.1959C= (p.Phe653=)
c.2025C= (p.Phe675=)
c.2022C= (p.Phe674=)
c.1995C= (p.Phe665=)
c.1914C= (p.Phe638=)
c.1899C= (p.Phe633=)
c.1506C= (p.Phe502=)
c.1968C= (p.Phe656=)
c.1902C= (p.Phe634=)
c.1860C= (p.Phe620=)
c.933C= (p.Phe311=)
20g.63407346G>TCA409639481KCNQ2c.1971C>A (p.Phe657Leu)
c.1917C>A (p.Phe639Leu)
c.1314C>A (p.Phe438Leu)
n.74C>A
c.1824C>A (p.Phe608Leu)
c.1485C>A (p.Phe495Leu)
c.1833C>A (p.Phe611Leu)
c.1941C>A (p.Phe647Leu)
c.1905C>A (p.Phe635Leu)
c.1863C>A (p.Phe621Leu)
c.1679+6104C>A (n.1679+6104C>A)
c.1959C>A (p.Phe653Leu)
c.2025C>A (p.Phe675Leu)
c.2022C>A (p.Phe674Leu)
c.1995C>A (p.Phe665Leu)
c.1914C>A (p.Phe638Leu)
c.1899C>A (p.Phe633Leu)
c.1506C>A (p.Phe502Leu)
c.1968C>A (p.Phe656Leu)
c.1902C>A (p.Phe634Leu)
c.1860C>A (p.Phe620Leu)
c.933C>A (p.Phe311Leu)
20g.63407347A>CCA409639485KCNQ2c.1970T>G (p.Phe657Cys)
c.1916T>G (p.Phe639Cys)
c.1313T>G (p.Phe438Cys)
n.73T>G
c.1823T>G (p.Phe608Cys)
c.1484T>G (p.Phe495Cys)
c.1832T>G (p.Phe611Cys)
c.1940T>G (p.Phe647Cys)
c.1904T>G (p.Phe635Cys)
c.1862T>G (p.Phe621Cys)
c.1679+6103T>G (n.1679+6103T>G)
c.1958T>G (p.Phe653Cys)
c.2024T>G (p.Phe675Cys)
c.2021T>G (p.Phe674Cys)
c.1994T>G (p.Phe665Cys)
c.1913T>G (p.Phe638Cys)
c.1898T>G (p.Phe633Cys)
c.1505T>G (p.Phe502Cys)
c.1967T>G (p.Phe656Cys)
c.1901T>G (p.Phe634Cys)
c.1859T>G (p.Phe620Cys)
c.932T>G (p.Phe311Cys)
20g.63407347A>GCA409639483KCNQ2c.1970T>C (p.Phe657Ser)
c.1916T>C (p.Phe639Ser)
c.1313T>C (p.Phe438Ser)
n.73T>C
c.1823T>C (p.Phe608Ser)
c.1484T>C (p.Phe495Ser)
c.1832T>C (p.Phe611Ser)
c.1940T>C (p.Phe647Ser)
c.1904T>C (p.Phe635Ser)
c.1862T>C (p.Phe621Ser)
c.1679+6103T>C (n.1679+6103T>C)
c.1958T>C (p.Phe653Ser)
c.2024T>C (p.Phe675Ser)
c.2021T>C (p.Phe674Ser)
c.1994T>C (p.Phe665Ser)
c.1913T>C (p.Phe638Ser)
c.1898T>C (p.Phe633Ser)
c.1505T>C (p.Phe502Ser)
c.1967T>C (p.Phe656Ser)
c.1901T>C (p.Phe634Ser)
c.1859T>C (p.Phe620Ser)
c.932T>C (p.Phe311Ser)
20g.63407347A>TCA409639482KCNQ2c.1970T>A (p.Phe657Tyr)
c.1916T>A (p.Phe639Tyr)
c.1313T>A (p.Phe438Tyr)
n.73T>A
c.1823T>A (p.Phe608Tyr)
c.1484T>A (p.Phe495Tyr)
c.1832T>A (p.Phe611Tyr)
c.1940T>A (p.Phe647Tyr)
c.1904T>A (p.Phe635Tyr)
c.1862T>A (p.Phe621Tyr)
c.1679+6103T>A (n.1679+6103T>A)
c.1958T>A (p.Phe653Tyr)
c.2024T>A (p.Phe675Tyr)
c.2021T>A (p.Phe674Tyr)
c.1994T>A (p.Phe665Tyr)
c.1913T>A (p.Phe638Tyr)
c.1898T>A (p.Phe633Tyr)
c.1505T>A (p.Phe502Tyr)
c.1967T>A (p.Phe656Tyr)
c.1901T>A (p.Phe634Tyr)
c.1859T>A (p.Phe620Tyr)
c.932T>A (p.Phe311Tyr)
20g.63407348A>CCA409639488KCNQ2c.1969T>G (p.Phe657Val)
c.1915T>G (p.Phe639Val)
c.1312T>G (p.Phe438Val)
n.72T>G
c.1822T>G (p.Phe608Val)
c.1483T>G (p.Phe495Val)
c.1831T>G (p.Phe611Val)
c.1939T>G (p.Phe647Val)
c.1903T>G (p.Phe635Val)
c.1861T>G (p.Phe621Val)
c.1679+6102T>G (n.1679+6102T>G)
c.1957T>G (p.Phe653Val)
c.2023T>G (p.Phe675Val)
c.2020T>G (p.Phe674Val)
c.1993T>G (p.Phe665Val)
c.1912T>G (p.Phe638Val)
c.1897T>G (p.Phe633Val)
c.1504T>G (p.Phe502Val)
c.1966T>G (p.Phe656Val)
c.1900T>G (p.Phe634Val)
c.1858T>G (p.Phe620Val)
c.931T>G (p.Phe311Val)
20g.63407348A>GCA409639490KCNQ2c.1969T>C (p.Phe657Leu)
c.1915T>C (p.Phe639Leu)
c.1312T>C (p.Phe438Leu)
n.72T>C
c.1822T>C (p.Phe608Leu)
c.1483T>C (p.Phe495Leu)
c.1831T>C (p.Phe611Leu)
c.1939T>C (p.Phe647Leu)
c.1903T>C (p.Phe635Leu)
c.1861T>C (p.Phe621Leu)
c.1679+6102T>C (n.1679+6102T>C)
c.1957T>C (p.Phe653Leu)
c.2023T>C (p.Phe675Leu)
c.2020T>C (p.Phe674Leu)
c.1993T>C (p.Phe665Leu)
c.1912T>C (p.Phe638Leu)
c.1897T>C (p.Phe633Leu)
c.1504T>C (p.Phe502Leu)
c.1966T>C (p.Phe656Leu)
c.1900T>C (p.Phe634Leu)
c.1858T>C (p.Phe620Leu)
c.931T>C (p.Phe311Leu)
20g.63407348A>TCA409639493KCNQ2c.1969T>A (p.Phe657Ile)
c.1915T>A (p.Phe639Ile)
c.1312T>A (p.Phe438Ile)
n.72T>A
c.1822T>A (p.Phe608Ile)
c.1483T>A (p.Phe495Ile)
c.1831T>A (p.Phe611Ile)
c.1939T>A (p.Phe647Ile)
c.1903T>A (p.Phe635Ile)
c.1861T>A (p.Phe621Ile)
c.1679+6102T>A (n.1679+6102T>A)
c.1957T>A (p.Phe653Ile)
c.2023T>A (p.Phe675Ile)
c.2020T>A (p.Phe674Ile)
c.1993T>A (p.Phe665Ile)
c.1912T>A (p.Phe638Ile)
c.1897T>A (p.Phe633Ile)
c.1504T>A (p.Phe502Ile)
c.1966T>A (p.Phe656Ile)
c.1900T>A (p.Phe634Ile)
c.1858T>A (p.Phe620Ile)
c.931T>A (p.Phe311Ile)
20g.63407349G>ACA9958200KCNQ2c.1968C>T (p.Asp656=)
c.1914C>T (p.Asp638=)
c.1311C>T (p.Asp437=)
n.71C>T
c.1821C>T (p.Asp607=)
c.1482C>T (p.Asp494=)
c.1830C>T (p.Asp610=)
c.1938C>T (p.Asp646=)
c.1902C>T (p.Asp634=)
c.1860C>T (p.Asp620=)
c.1679+6101C>T (n.1679+6101C>T)
c.1956C>T (p.Asp652=)
c.2022C>T (p.Asp674=)
c.2019C>T (p.Asp673=)
c.1992C>T (p.Asp664=)
c.1911C>T (p.Asp637=)
c.1896C>T (p.Asp632=)
c.1503C>T (p.Asp501=)
c.1965C>T (p.Asp655=)
c.1899C>T (p.Asp633=)
c.1857C>T (p.Asp619=)
c.930C>T (p.Asp310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407349G>CCA409639498KCNQ2c.1968C>G (p.Asp656Glu)
c.1914C>G (p.Asp638Glu)
c.1311C>G (p.Asp437Glu)
n.71C>G
c.1821C>G (p.Asp607Glu)
c.1482C>G (p.Asp494Glu)
c.1830C>G (p.Asp610Glu)
c.1938C>G (p.Asp646Glu)
c.1902C>G (p.Asp634Glu)
c.1860C>G (p.Asp620Glu)
c.1679+6101C>G (n.1679+6101C>G)
c.1956C>G (p.Asp652Glu)
c.2022C>G (p.Asp674Glu)
c.2019C>G (p.Asp673Glu)
c.1992C>G (p.Asp664Glu)
c.1911C>G (p.Asp637Glu)
c.1896C>G (p.Asp632Glu)
c.1503C>G (p.Asp501Glu)
c.1965C>G (p.Asp655Glu)
c.1899C>G (p.Asp633Glu)
c.1857C>G (p.Asp619Glu)
c.930C>G (p.Asp310Glu)
20g.63407349G=CA2374774561KCNQ2c.1968C= (p.Asp656=)
c.1914C= (p.Asp638=)
c.1311C= (p.Asp437=)
n.71C=
c.1821C= (p.Asp607=)
c.1482C= (p.Asp494=)
c.1830C= (p.Asp610=)
c.1938C= (p.Asp646=)
c.1902C= (p.Asp634=)
c.1860C= (p.Asp620=)
c.1679+6101C= (n.1679+6101C=)
c.1956C= (p.Asp652=)
c.2022C= (p.Asp674=)
c.2019C= (p.Asp673=)
c.1992C= (p.Asp664=)
c.1911C= (p.Asp637=)
c.1896C= (p.Asp632=)
c.1503C= (p.Asp501=)
c.1965C= (p.Asp655=)
c.1899C= (p.Asp633=)
c.1857C= (p.Asp619=)
c.930C= (p.Asp310=)
20g.63407349G>TCA409639499KCNQ2c.1968C>A (p.Asp656Glu)
c.1914C>A (p.Asp638Glu)
c.1311C>A (p.Asp437Glu)
n.71C>A
c.1821C>A (p.Asp607Glu)
c.1482C>A (p.Asp494Glu)
c.1830C>A (p.Asp610Glu)
c.1938C>A (p.Asp646Glu)
c.1902C>A (p.Asp634Glu)
c.1860C>A (p.Asp620Glu)
c.1679+6101C>A (n.1679+6101C>A)
c.1956C>A (p.Asp652Glu)
c.2022C>A (p.Asp674Glu)
c.2019C>A (p.Asp673Glu)
c.1992C>A (p.Asp664Glu)
c.1911C>A (p.Asp637Glu)
c.1896C>A (p.Asp632Glu)
c.1503C>A (p.Asp501Glu)
c.1965C>A (p.Asp655Glu)
c.1899C>A (p.Asp633Glu)
c.1857C>A (p.Asp619Glu)
c.930C>A (p.Asp310Glu)
 gnomAD v4
20g.63407350T>ACA409639502KCNQ2c.1967A>T (p.Asp656Val)
c.1913A>T (p.Asp638Val)
c.1310A>T (p.Asp437Val)
n.70A>T
c.1820A>T (p.Asp607Val)
c.1481A>T (p.Asp494Val)
c.1829A>T (p.Asp610Val)
c.1937A>T (p.Asp646Val)
c.1901A>T (p.Asp634Val)
c.1859A>T (p.Asp620Val)
c.1679+6100A>T (n.1679+6100A>T)
c.1955A>T (p.Asp652Val)
c.2021A>T (p.Asp674Val)
c.2018A>T (p.Asp673Val)
c.1991A>T (p.Asp664Val)
c.1910A>T (p.Asp637Val)
c.1895A>T (p.Asp632Val)
c.1502A>T (p.Asp501Val)
c.1964A>T (p.Asp655Val)
c.1898A>T (p.Asp633Val)
c.1856A>T (p.Asp619Val)
c.929A>T (p.Asp310Val)
20g.63407350T>CCA409639504KCNQ2c.1967A>G (p.Asp656Gly)
c.1913A>G (p.Asp638Gly)
c.1310A>G (p.Asp437Gly)
n.70A>G
c.1820A>G (p.Asp607Gly)
c.1481A>G (p.Asp494Gly)
c.1829A>G (p.Asp610Gly)
c.1937A>G (p.Asp646Gly)
c.1901A>G (p.Asp634Gly)
c.1859A>G (p.Asp620Gly)
c.1679+6100A>G (n.1679+6100A>G)
c.1955A>G (p.Asp652Gly)
c.2021A>G (p.Asp674Gly)
c.2018A>G (p.Asp673Gly)
c.1991A>G (p.Asp664Gly)
c.1910A>G (p.Asp637Gly)
c.1895A>G (p.Asp632Gly)
c.1502A>G (p.Asp501Gly)
c.1964A>G (p.Asp655Gly)
c.1898A>G (p.Asp633Gly)
c.1856A>G (p.Asp619Gly)
c.929A>G (p.Asp310Gly)
20g.63407350T>GCA409639506KCNQ2c.1967A>C (p.Asp656Ala)
c.1913A>C (p.Asp638Ala)
c.1310A>C (p.Asp437Ala)
n.70A>C
c.1820A>C (p.Asp607Ala)
c.1481A>C (p.Asp494Ala)
c.1829A>C (p.Asp610Ala)
c.1937A>C (p.Asp646Ala)
c.1901A>C (p.Asp634Ala)
c.1859A>C (p.Asp620Ala)
c.1679+6100A>C (n.1679+6100A>C)
c.1955A>C (p.Asp652Ala)
c.2021A>C (p.Asp674Ala)
c.2018A>C (p.Asp673Ala)
c.1991A>C (p.Asp664Ala)
c.1910A>C (p.Asp637Ala)
c.1895A>C (p.Asp632Ala)
c.1502A>C (p.Asp501Ala)
c.1964A>C (p.Asp655Ala)
c.1898A>C (p.Asp633Ala)
c.1856A>C (p.Asp619Ala)
c.929A>C (p.Asp310Ala)
 gnomAD v4
20g.63407351C>ACA409639509KCNQ2c.1966G>T (p.Asp656Tyr)
c.1912G>T (p.Asp638Tyr)
c.1309G>T (p.Asp437Tyr)
n.69G>T
c.1819G>T (p.Asp607Tyr)
c.1480G>T (p.Asp494Tyr)
c.1828G>T (p.Asp610Tyr)
c.1936G>T (p.Asp646Tyr)
c.1900G>T (p.Asp634Tyr)
c.1858G>T (p.Asp620Tyr)
c.1679+6099G>T (n.1679+6099G>T)
c.1954G>T (p.Asp652Tyr)
c.2020G>T (p.Asp674Tyr)
c.2017G>T (p.Asp673Tyr)
c.1990G>T (p.Asp664Tyr)
c.1909G>T (p.Asp637Tyr)
c.1894G>T (p.Asp632Tyr)
c.1501G>T (p.Asp501Tyr)
c.1963G>T (p.Asp655Tyr)
c.1897G>T (p.Asp633Tyr)
c.1855G>T (p.Asp619Tyr)
c.928G>T (p.Asp310Tyr)
 gnomAD v4
20g.63407351C>GCA409639510KCNQ2c.1966G>C (p.Asp656His)
c.1912G>C (p.Asp638His)
c.1309G>C (p.Asp437His)
n.69G>C
c.1819G>C (p.Asp607His)
c.1480G>C (p.Asp494His)
c.1828G>C (p.Asp610His)
c.1936G>C (p.Asp646His)
c.1900G>C (p.Asp634His)
c.1858G>C (p.Asp620His)
c.1679+6099G>C (n.1679+6099G>C)
c.1954G>C (p.Asp652His)
c.2020G>C (p.Asp674His)
c.2017G>C (p.Asp673His)
c.1990G>C (p.Asp664His)
c.1909G>C (p.Asp637His)
c.1894G>C (p.Asp632His)
c.1501G>C (p.Asp501His)
c.1963G>C (p.Asp655His)
c.1897G>C (p.Asp633His)
c.1855G>C (p.Asp619His)
c.928G>C (p.Asp310His)
20g.63407351C>TCA409639511KCNQ2c.1966G>A (p.Asp656Asn)
c.1912G>A (p.Asp638Asn)
c.1309G>A (p.Asp437Asn)
n.69G>A
c.1819G>A (p.Asp607Asn)
c.1480G>A (p.Asp494Asn)
c.1828G>A (p.Asp610Asn)
c.1936G>A (p.Asp646Asn)
c.1900G>A (p.Asp634Asn)
c.1858G>A (p.Asp620Asn)
c.1679+6099G>A (n.1679+6099G>A)
c.1954G>A (p.Asp652Asn)
c.2020G>A (p.Asp674Asn)
c.2017G>A (p.Asp673Asn)
c.1990G>A (p.Asp664Asn)
c.1909G>A (p.Asp637Asn)
c.1894G>A (p.Asp632Asn)
c.1501G>A (p.Asp501Asn)
c.1963G>A (p.Asp655Asn)
c.1897G>A (p.Asp633Asn)
c.1855G>A (p.Asp619Asn)
c.928G>A (p.Asp310Asn)
20g.63407352C>ACA511339666KCNQ2c.1965G>T (p.Leu655=)
c.1911G>T (p.Leu637=)
c.1308G>T (p.Leu436=)
n.68G>T
c.1818G>T (p.Leu606=)
c.1479G>T (p.Leu493=)
c.1827G>T (p.Leu609=)
c.1935G>T (p.Leu645=)
c.1899G>T (p.Leu633=)
c.1857G>T (p.Leu619=)
c.1679+6098G>T (n.1679+6098G>T)
c.1953G>T (p.Leu651=)
c.2019G>T (p.Leu673=)
c.2016G>T (p.Leu672=)
c.1989G>T (p.Leu663=)
c.1908G>T (p.Leu636=)
c.1893G>T (p.Leu631=)
c.1500G>T (p.Leu500=)
c.1962G>T (p.Leu654=)
c.1896G>T (p.Leu632=)
c.1854G>T (p.Leu618=)
c.927G>T (p.Leu309=)
 dbSNP
20g.63407352C=CA2374774562KCNQ2c.1965G= (p.Leu655=)
c.1911G= (p.Leu637=)
c.1308G= (p.Leu436=)
n.68G=
c.1818G= (p.Leu606=)
c.1479G= (p.Leu493=)
c.1827G= (p.Leu609=)
c.1935G= (p.Leu645=)
c.1899G= (p.Leu633=)
c.1857G= (p.Leu619=)
c.1679+6098G= (n.1679+6098G=)
c.1953G= (p.Leu651=)
c.2019G= (p.Leu673=)
c.2016G= (p.Leu672=)
c.1989G= (p.Leu663=)
c.1908G= (p.Leu636=)
c.1893G= (p.Leu631=)
c.1500G= (p.Leu500=)
c.1962G= (p.Leu654=)
c.1896G= (p.Leu632=)
c.1854G= (p.Leu618=)
c.927G= (p.Leu309=)
20g.63407352C>GCA511339664KCNQ2c.1965G>C (p.Leu655=)
c.1911G>C (p.Leu637=)
c.1308G>C (p.Leu436=)
n.68G>C
c.1818G>C (p.Leu606=)
c.1479G>C (p.Leu493=)
c.1827G>C (p.Leu609=)
c.1935G>C (p.Leu645=)
c.1899G>C (p.Leu633=)
c.1857G>C (p.Leu619=)
c.1679+6098G>C (n.1679+6098G>C)
c.1953G>C (p.Leu651=)
c.2019G>C (p.Leu673=)
c.2016G>C (p.Leu672=)
c.1989G>C (p.Leu663=)
c.1908G>C (p.Leu636=)
c.1893G>C (p.Leu631=)
c.1500G>C (p.Leu500=)
c.1962G>C (p.Leu654=)
c.1896G>C (p.Leu632=)
c.1854G>C (p.Leu618=)
c.927G>C (p.Leu309=)
20g.63407352C>TCA317422633KCNQ2c.1965G>A (p.Leu655=)
c.1911G>A (p.Leu637=)
c.1308G>A (p.Leu436=)
n.68G>A
c.1818G>A (p.Leu606=)
c.1479G>A (p.Leu493=)
c.1827G>A (p.Leu609=)
c.1935G>A (p.Leu645=)
c.1899G>A (p.Leu633=)
c.1857G>A (p.Leu619=)
c.1679+6098G>A (n.1679+6098G>A)
c.1953G>A (p.Leu651=)
c.2019G>A (p.Leu673=)
c.2016G>A (p.Leu672=)
c.1989G>A (p.Leu663=)
c.1908G>A (p.Leu636=)
c.1893G>A (p.Leu631=)
c.1500G>A (p.Leu500=)
c.1962G>A (p.Leu654=)
c.1896G>A (p.Leu632=)
c.1854G>A (p.Leu618=)
c.927G>A (p.Leu309=)
 dbSNP gnomAD v4
20g.63407353A=CA2374774563KCNQ2c.1964T= (p.Leu655=)
c.1910T= (p.Leu637=)
c.1307T= (p.Leu436=)
n.67T=
c.1817T= (p.Leu606=)
c.1478T= (p.Leu493=)
c.1826T= (p.Leu609=)
c.1934T= (p.Leu645=)
c.1898T= (p.Leu633=)
c.1856T= (p.Leu619=)
c.1679+6097T= (n.1679+6097T=)
c.1952T= (p.Leu651=)
c.2018T= (p.Leu673=)
c.2015T= (p.Leu672=)
c.1988T= (p.Leu663=)
c.1907T= (p.Leu636=)
c.1892T= (p.Leu631=)
c.1499T= (p.Leu500=)
c.1961T= (p.Leu654=)
c.1895T= (p.Leu632=)
c.1853T= (p.Leu618=)
c.926T= (p.Leu309=)
20g.63407353A>CCA342478KCNQ2c.1964T>G (p.Leu655Arg)
c.1910T>G (p.Leu637Arg)
c.1307T>G (p.Leu436Arg)
n.67T>G
c.1817T>G (p.Leu606Arg)
c.1478T>G (p.Leu493Arg)
c.1826T>G (p.Leu609Arg)
c.1934T>G (p.Leu645Arg)
c.1898T>G (p.Leu633Arg)
c.1856T>G (p.Leu619Arg)
c.1679+6097T>G (n.1679+6097T>G)
c.1952T>G (p.Leu651Arg)
c.2018T>G (p.Leu673Arg)
c.2015T>G (p.Leu672Arg)
c.1988T>G (p.Leu663Arg)
c.1907T>G (p.Leu636Arg)
c.1892T>G (p.Leu631Arg)
c.1499T>G (p.Leu500Arg)
c.1961T>G (p.Leu654Arg)
c.1895T>G (p.Leu632Arg)
c.1853T>G (p.Leu618Arg)
c.926T>G (p.Leu309Arg)
 ClinVar dbSNP
20g.63407353A>GCA409639515KCNQ2c.1964T>C (p.Leu655Pro)
c.1910T>C (p.Leu637Pro)
c.1307T>C (p.Leu436Pro)
n.67T>C
c.1817T>C (p.Leu606Pro)
c.1478T>C (p.Leu493Pro)
c.1826T>C (p.Leu609Pro)
c.1934T>C (p.Leu645Pro)
c.1898T>C (p.Leu633Pro)
c.1856T>C (p.Leu619Pro)
c.1679+6097T>C (n.1679+6097T>C)
c.1952T>C (p.Leu651Pro)
c.2018T>C (p.Leu673Pro)
c.2015T>C (p.Leu672Pro)
c.1988T>C (p.Leu663Pro)
c.1907T>C (p.Leu636Pro)
c.1892T>C (p.Leu631Pro)
c.1499T>C (p.Leu500Pro)
c.1961T>C (p.Leu654Pro)
c.1895T>C (p.Leu632Pro)
c.1853T>C (p.Leu618Pro)
c.926T>C (p.Leu309Pro)
20g.63407353A>TCA409639517KCNQ2c.1964T>A (p.Leu655Gln)
c.1910T>A (p.Leu637Gln)
c.1307T>A (p.Leu436Gln)
n.67T>A
c.1817T>A (p.Leu606Gln)
c.1478T>A (p.Leu493Gln)
c.1826T>A (p.Leu609Gln)
c.1934T>A (p.Leu645Gln)
c.1898T>A (p.Leu633Gln)
c.1856T>A (p.Leu619Gln)
c.1679+6097T>A (n.1679+6097T>A)
c.1952T>A (p.Leu651Gln)
c.2018T>A (p.Leu673Gln)
c.2015T>A (p.Leu672Gln)
c.1988T>A (p.Leu663Gln)
c.1907T>A (p.Leu636Gln)
c.1892T>A (p.Leu631Gln)
c.1499T>A (p.Leu500Gln)
c.1961T>A (p.Leu654Gln)
c.1895T>A (p.Leu632Gln)
c.1853T>A (p.Leu618Gln)
c.926T>A (p.Leu309Gln)
20g.63407354G>ACA16608416KCNQ2c.1963C>T (p.Leu655=)
c.1909C>T (p.Leu637=)
c.1306C>T (p.Leu436=)
n.66C>T
c.1816C>T (p.Leu606=)
c.1477C>T (p.Leu493=)
c.1825C>T (p.Leu609=)
c.1933C>T (p.Leu645=)
c.1897C>T (p.Leu633=)
c.1855C>T (p.Leu619=)
c.1679+6096C>T (n.1679+6096C>T)
c.1951C>T (p.Leu651=)
c.2017C>T (p.Leu673=)
c.2014C>T (p.Leu672=)
c.1987C>T (p.Leu663=)
c.1906C>T (p.Leu636=)
c.1891C>T (p.Leu631=)
c.1498C>T (p.Leu500=)
c.1960C>T (p.Leu654=)
c.1894C>T (p.Leu632=)
c.1852C>T (p.Leu618=)
c.925C>T (p.Leu309=)
 ClinVar dbSNP
20g.63407354G>CCA409639521KCNQ2c.1963C>G (p.Leu655Val)
c.1909C>G (p.Leu637Val)
c.1306C>G (p.Leu436Val)
n.66C>G
c.1816C>G (p.Leu606Val)
c.1477C>G (p.Leu493Val)
c.1825C>G (p.Leu609Val)
c.1933C>G (p.Leu645Val)
c.1897C>G (p.Leu633Val)
c.1855C>G (p.Leu619Val)
c.1679+6096C>G (n.1679+6096C>G)
c.1951C>G (p.Leu651Val)
c.2017C>G (p.Leu673Val)
c.2014C>G (p.Leu672Val)
c.1987C>G (p.Leu663Val)
c.1906C>G (p.Leu636Val)
c.1891C>G (p.Leu631Val)
c.1498C>G (p.Leu500Val)
c.1960C>G (p.Leu654Val)
c.1894C>G (p.Leu632Val)
c.1852C>G (p.Leu618Val)
c.925C>G (p.Leu309Val)
20g.63407354G=CA2374774564KCNQ2c.1963C= (p.Leu655=)
c.1909C= (p.Leu637=)
c.1306C= (p.Leu436=)
n.66C=
c.1816C= (p.Leu606=)
c.1477C= (p.Leu493=)
c.1825C= (p.Leu609=)
c.1933C= (p.Leu645=)
c.1897C= (p.Leu633=)
c.1855C= (p.Leu619=)
c.1679+6096C= (n.1679+6096C=)
c.1951C= (p.Leu651=)
c.2017C= (p.Leu673=)
c.2014C= (p.Leu672=)
c.1987C= (p.Leu663=)
c.1906C= (p.Leu636=)
c.1891C= (p.Leu631=)
c.1498C= (p.Leu500=)
c.1960C= (p.Leu654=)
c.1894C= (p.Leu632=)
c.1852C= (p.Leu618=)
c.925C= (p.Leu309=)
20g.63407354G>TCA409639523KCNQ2c.1963C>A (p.Leu655Met)
c.1909C>A (p.Leu637Met)
c.1306C>A (p.Leu436Met)
n.66C>A
c.1816C>A (p.Leu606Met)
c.1477C>A (p.Leu493Met)
c.1825C>A (p.Leu609Met)
c.1933C>A (p.Leu645Met)
c.1897C>A (p.Leu633Met)
c.1855C>A (p.Leu619Met)
c.1679+6096C>A (n.1679+6096C>A)
c.1951C>A (p.Leu651Met)
c.2017C>A (p.Leu673Met)
c.2014C>A (p.Leu672Met)
c.1987C>A (p.Leu663Met)
c.1906C>A (p.Leu636Met)
c.1891C>A (p.Leu631Met)
c.1498C>A (p.Leu500Met)
c.1960C>A (p.Leu654Met)
c.1894C>A (p.Leu632Met)
c.1852C>A (p.Leu618Met)
c.925C>A (p.Leu309Met)
20g.63407354_63407357delinsGCTTCA2374774565KCNQ2c.1960_1963delinsAAGC (p.Lys654=)
c.1906_1909delinsAAGC (p.Lys636=)
c.1303_1306delinsAAGC (p.Lys435=)
n.63_66delinsAAGC
c.1813_1816delinsAAGC (p.Lys605=)
c.1474_1477delinsAAGC (p.Lys492=)
c.1822_1825delinsAAGC (p.Lys608=)
c.1930_1933delinsAAGC (p.Lys644=)
c.1894_1897delinsAAGC (p.Lys632=)
c.1852_1855delinsAAGC (p.Lys618=)
c.1679+6093_1679+6096delinsAAGC (n.1679+6093_1679+6096delinsAAGC)
c.1948_1951delinsAAGC (p.Lys650=)
c.2014_2017delinsAAGC (p.Lys672=)
c.2011_2014delinsAAGC (p.Lys671=)
c.1984_1987delinsAAGC (p.Lys662=)
c.1903_1906delinsAAGC (p.Lys635=)
c.1888_1891delinsAAGC (p.Lys630=)
c.1495_1498delinsAAGC (p.Lys499=)
c.1957_1960delinsAAGC (p.Lys653=)
c.1891_1894delinsAAGC (p.Lys631=)
c.1849_1852delinsAAGC (p.Lys617=)
c.922_925delinsAAGC (p.Lys308=)
20g.63407355C>ACA409639526KCNQ2c.1962G>T (p.Lys654Asn)
c.1908G>T (p.Lys636Asn)
c.1305G>T (p.Lys435Asn)
n.65G>T
c.1815G>T (p.Lys605Asn)
c.1476G>T (p.Lys492Asn)
c.1824G>T (p.Lys608Asn)
c.1932G>T (p.Lys644Asn)
c.1896G>T (p.Lys632Asn)
c.1854G>T (p.Lys618Asn)
c.1679+6095G>T (n.1679+6095G>T)
c.1950G>T (p.Lys650Asn)
c.2016G>T (p.Lys672Asn)
c.2013G>T (p.Lys671Asn)
c.1986G>T (p.Lys662Asn)
c.1905G>T (p.Lys635Asn)
c.1890G>T (p.Lys630Asn)
c.1497G>T (p.Lys499Asn)
c.1959G>T (p.Lys653Asn)
c.1893G>T (p.Lys631Asn)
c.1851G>T (p.Lys617Asn)
c.924G>T (p.Lys308Asn)
 gnomAD v4
20g.63407355C=CA2374774567KCNQ2c.1962G= (p.Lys654=)
c.1908G= (p.Lys636=)
c.1305G= (p.Lys435=)
n.65G=
c.1815G= (p.Lys605=)
c.1476G= (p.Lys492=)
c.1824G= (p.Lys608=)
c.1932G= (p.Lys644=)
c.1896G= (p.Lys632=)
c.1854G= (p.Lys618=)
c.1679+6095G= (n.1679+6095G=)
c.1950G= (p.Lys650=)
c.2016G= (p.Lys672=)
c.2013G= (p.Lys671=)
c.1986G= (p.Lys662=)
c.1905G= (p.Lys635=)
c.1890G= (p.Lys630=)
c.1497G= (p.Lys499=)
c.1959G= (p.Lys653=)
c.1893G= (p.Lys631=)
c.1851G= (p.Lys617=)
c.924G= (p.Lys308=)
20g.63407355C>GCA409639528KCNQ2c.1962G>C (p.Lys654Asn)
c.1908G>C (p.Lys636Asn)
c.1305G>C (p.Lys435Asn)
n.65G>C
c.1815G>C (p.Lys605Asn)
c.1476G>C (p.Lys492Asn)
c.1824G>C (p.Lys608Asn)
c.1932G>C (p.Lys644Asn)
c.1896G>C (p.Lys632Asn)
c.1854G>C (p.Lys618Asn)
c.1679+6095G>C (n.1679+6095G>C)
c.1950G>C (p.Lys650Asn)
c.2016G>C (p.Lys672Asn)
c.2013G>C (p.Lys671Asn)
c.1986G>C (p.Lys662Asn)
c.1905G>C (p.Lys635Asn)
c.1890G>C (p.Lys630Asn)
c.1497G>C (p.Lys499Asn)
c.1959G>C (p.Lys653Asn)
c.1893G>C (p.Lys631Asn)
c.1851G>C (p.Lys617Asn)
c.924G>C (p.Lys308Asn)
 COSMIC COSMIC COSMIC
20g.63407355C>TCA511339671KCNQ2c.1962G>A (p.Lys654=)
c.1908G>A (p.Lys636=)
c.1305G>A (p.Lys435=)
n.65G>A
c.1815G>A (p.Lys605=)
c.1476G>A (p.Lys492=)
c.1824G>A (p.Lys608=)
c.1932G>A (p.Lys644=)
c.1896G>A (p.Lys632=)
c.1854G>A (p.Lys618=)
c.1679+6095G>A (n.1679+6095G>A)
c.1950G>A (p.Lys650=)
c.2016G>A (p.Lys672=)
c.2013G>A (p.Lys671=)
c.1986G>A (p.Lys662=)
c.1905G>A (p.Lys635=)
c.1890G>A (p.Lys630=)
c.1497G>A (p.Lys499=)
c.1959G>A (p.Lys653=)
c.1893G>A (p.Lys631=)
c.1851G>A (p.Lys617=)
c.924G>A (p.Lys308=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63407360_63407362delCA2374774566KCNQ2c.1960_1962del (p.Lys654del)
c.1906_1908del (p.Lys636del)
c.1303_1305del (p.Lys435del)
n.63_65del
c.1813_1815del (p.Lys605del)
c.1474_1476del (p.Lys492del)
c.1822_1824del (p.Lys608del)
c.1930_1932del (p.Lys644del)
c.1894_1896del (p.Lys632del)
c.1852_1854del (p.Lys618del)
c.1679+6093_1679+6095del (n.1679+6093_1679+6095del)
c.1948_1950del (p.Lys650del)
c.2014_2016del (p.Lys672del)
c.2011_2013del (p.Lys671del)
c.1984_1986del (p.Lys662del)
c.1903_1905del (p.Lys635del)
c.1888_1890del (p.Lys630del)
c.1495_1497del (p.Lys499del)
c.1957_1959del (p.Lys653del)
c.1891_1893del (p.Lys631del)
c.1849_1851del (p.Lys617del)
c.922_924del (p.Lys308del)
 ClinVar dbSNP
20g.63407356T>ACA409639530KCNQ2c.1961A>T (p.Lys654Met)
c.1907A>T (p.Lys636Met)
c.1304A>T (p.Lys435Met)
n.64A>T
c.1814A>T (p.Lys605Met)
c.1475A>T (p.Lys492Met)
c.1823A>T (p.Lys608Met)
c.1931A>T (p.Lys644Met)
c.1895A>T (p.Lys632Met)
c.1853A>T (p.Lys618Met)
c.1679+6094A>T (n.1679+6094A>T)
c.1949A>T (p.Lys650Met)
c.2015A>T (p.Lys672Met)
c.2012A>T (p.Lys671Met)
c.1985A>T (p.Lys662Met)
c.1904A>T (p.Lys635Met)
c.1889A>T (p.Lys630Met)
c.1496A>T (p.Lys499Met)
c.1958A>T (p.Lys653Met)
c.1892A>T (p.Lys631Met)
c.1850A>T (p.Lys617Met)
c.923A>T (p.Lys308Met)
20g.63407356T>CCA409639533KCNQ2c.1961A>G (p.Lys654Arg)
c.1907A>G (p.Lys636Arg)
c.1304A>G (p.Lys435Arg)
n.64A>G
c.1814A>G (p.Lys605Arg)
c.1475A>G (p.Lys492Arg)
c.1823A>G (p.Lys608Arg)
c.1931A>G (p.Lys644Arg)
c.1895A>G (p.Lys632Arg)
c.1853A>G (p.Lys618Arg)
c.1679+6094A>G (n.1679+6094A>G)
c.1949A>G (p.Lys650Arg)
c.2015A>G (p.Lys672Arg)
c.2012A>G (p.Lys671Arg)
c.1985A>G (p.Lys662Arg)
c.1904A>G (p.Lys635Arg)
c.1889A>G (p.Lys630Arg)
c.1496A>G (p.Lys499Arg)
c.1958A>G (p.Lys653Arg)
c.1892A>G (p.Lys631Arg)
c.1850A>G (p.Lys617Arg)
c.923A>G (p.Lys308Arg)
20g.63407356T>GCA409639534KCNQ2c.1961A>C (p.Lys654Thr)
c.1907A>C (p.Lys636Thr)
c.1304A>C (p.Lys435Thr)
n.64A>C
c.1814A>C (p.Lys605Thr)
c.1475A>C (p.Lys492Thr)
c.1823A>C (p.Lys608Thr)
c.1931A>C (p.Lys644Thr)
c.1895A>C (p.Lys632Thr)
c.1853A>C (p.Lys618Thr)
c.1679+6094A>C (n.1679+6094A>C)
c.1949A>C (p.Lys650Thr)
c.2015A>C (p.Lys672Thr)
c.2012A>C (p.Lys671Thr)
c.1985A>C (p.Lys662Thr)
c.1904A>C (p.Lys635Thr)
c.1889A>C (p.Lys630Thr)
c.1496A>C (p.Lys499Thr)
c.1958A>C (p.Lys653Thr)
c.1892A>C (p.Lys631Thr)
c.1850A>C (p.Lys617Thr)
c.923A>C (p.Lys308Thr)
20g.63407357T>ACA409639537KCNQ2c.1960A>T (p.Lys654Ter)
c.1906A>T (p.Lys636Ter)
c.1303A>T (p.Lys435Ter)
n.63A>T
c.1813A>T (p.Lys605Ter)
c.1474A>T (p.Lys492Ter)
c.1822A>T (p.Lys608Ter)
c.1930A>T (p.Lys644Ter)
c.1894A>T (p.Lys632Ter)
c.1852A>T (p.Lys618Ter)
c.1679+6093A>T (n.1679+6093A>T)
c.1948A>T (p.Lys650Ter)
c.2014A>T (p.Lys672Ter)
c.2011A>T (p.Lys671Ter)
c.1984A>T (p.Lys662Ter)
c.1903A>T (p.Lys635Ter)
c.1888A>T (p.Lys630Ter)
c.1495A>T (p.Lys499Ter)
c.1957A>T (p.Lys653Ter)
c.1891A>T (p.Lys631Ter)
c.1849A>T (p.Lys617Ter)
c.922A>T (p.Lys308Ter)
20g.63407357T>CCA409639539KCNQ2c.1960A>G (p.Lys654Glu)
c.1906A>G (p.Lys636Glu)
c.1303A>G (p.Lys435Glu)
n.63A>G
c.1813A>G (p.Lys605Glu)
c.1474A>G (p.Lys492Glu)
c.1822A>G (p.Lys608Glu)
c.1930A>G (p.Lys644Glu)
c.1894A>G (p.Lys632Glu)
c.1852A>G (p.Lys618Glu)
c.1679+6093A>G (n.1679+6093A>G)
c.1948A>G (p.Lys650Glu)
c.2014A>G (p.Lys672Glu)
c.2011A>G (p.Lys671Glu)
c.1984A>G (p.Lys662Glu)
c.1903A>G (p.Lys635Glu)
c.1888A>G (p.Lys630Glu)
c.1495A>G (p.Lys499Glu)
c.1957A>G (p.Lys653Glu)
c.1891A>G (p.Lys631Glu)
c.1849A>G (p.Lys617Glu)
c.922A>G (p.Lys308Glu)
20g.63407357T>GCA409639542KCNQ2c.1960A>C (p.Lys654Gln)
c.1906A>C (p.Lys636Gln)
c.1303A>C (p.Lys435Gln)
n.63A>C
c.1813A>C (p.Lys605Gln)
c.1474A>C (p.Lys492Gln)
c.1822A>C (p.Lys608Gln)
c.1930A>C (p.Lys644Gln)
c.1894A>C (p.Lys632Gln)
c.1852A>C (p.Lys618Gln)
c.1679+6093A>C (n.1679+6093A>C)
c.1948A>C (p.Lys650Gln)
c.2014A>C (p.Lys672Gln)
c.2011A>C (p.Lys671Gln)
c.1984A>C (p.Lys662Gln)
c.1903A>C (p.Lys635Gln)
c.1888A>C (p.Lys630Gln)
c.1495A>C (p.Lys499Gln)
c.1957A>C (p.Lys653Gln)
c.1891A>C (p.Lys631Gln)
c.1849A>C (p.Lys617Gln)
c.922A>C (p.Lys308Gln)
20g.63407358C>ACA409639546KCNQ2c.1959G>T (p.Lys653Asn)
c.1905G>T (p.Lys635Asn)
c.1302G>T (p.Lys434Asn)
n.62G>T
c.1812G>T (p.Lys604Asn)
c.1473G>T (p.Lys491Asn)
c.1821G>T (p.Lys607Asn)
c.1929G>T (p.Lys643Asn)
c.1893G>T (p.Lys631Asn)
c.1851G>T (p.Lys617Asn)
c.1679+6092G>T (n.1679+6092G>T)
c.1947G>T (p.Lys649Asn)
c.2013G>T (p.Lys671Asn)
c.2010G>T (p.Lys670Asn)
c.1983G>T (p.Lys661Asn)
c.1902G>T (p.Lys634Asn)
c.1887G>T (p.Lys629Asn)
c.1494G>T (p.Lys498Asn)
c.1956G>T (p.Lys652Asn)
c.1890G>T (p.Lys630Asn)
c.1848G>T (p.Lys616Asn)
c.921G>T (p.Lys307Asn)
 dbSNP gnomAD v3 gnomAD v4
20g.63407358C=CA2374774568KCNQ2c.1959G= (p.Lys653=)
c.1905G= (p.Lys635=)
c.1302G= (p.Lys434=)
n.62G=
c.1812G= (p.Lys604=)
c.1473G= (p.Lys491=)
c.1821G= (p.Lys607=)
c.1929G= (p.Lys643=)
c.1893G= (p.Lys631=)
c.1851G= (p.Lys617=)
c.1679+6092G= (n.1679+6092G=)
c.1947G= (p.Lys649=)
c.2013G= (p.Lys671=)
c.2010G= (p.Lys670=)
c.1983G= (p.Lys661=)
c.1902G= (p.Lys634=)
c.1887G= (p.Lys629=)
c.1494G= (p.Lys498=)
c.1956G= (p.Lys652=)
c.1890G= (p.Lys630=)
c.1848G= (p.Lys616=)
c.921G= (p.Lys307=)
20g.63407358C>GCA409639544KCNQ2c.1959G>C (p.Lys653Asn)
c.1905G>C (p.Lys635Asn)
c.1302G>C (p.Lys434Asn)
n.62G>C
c.1812G>C (p.Lys604Asn)
c.1473G>C (p.Lys491Asn)
c.1821G>C (p.Lys607Asn)
c.1929G>C (p.Lys643Asn)
c.1893G>C (p.Lys631Asn)
c.1851G>C (p.Lys617Asn)
c.1679+6092G>C (n.1679+6092G>C)
c.1947G>C (p.Lys649Asn)
c.2013G>C (p.Lys671Asn)
c.2010G>C (p.Lys670Asn)
c.1983G>C (p.Lys661Asn)
c.1902G>C (p.Lys634Asn)
c.1887G>C (p.Lys629Asn)
c.1494G>C (p.Lys498Asn)
c.1956G>C (p.Lys652Asn)
c.1890G>C (p.Lys630Asn)
c.1848G>C (p.Lys616Asn)
c.921G>C (p.Lys307Asn)
20g.63407358C>TCA511339676KCNQ2c.1959G>A (p.Lys653=)
c.1905G>A (p.Lys635=)
c.1302G>A (p.Lys434=)
n.62G>A
c.1812G>A (p.Lys604=)
c.1473G>A (p.Lys491=)
c.1821G>A (p.Lys607=)
c.1929G>A (p.Lys643=)
c.1893G>A (p.Lys631=)
c.1851G>A (p.Lys617=)
c.1679+6092G>A (n.1679+6092G>A)
c.1947G>A (p.Lys649=)
c.2013G>A (p.Lys671=)
c.2010G>A (p.Lys670=)
c.1983G>A (p.Lys661=)
c.1902G>A (p.Lys634=)
c.1887G>A (p.Lys629=)
c.1494G>A (p.Lys498=)
c.1956G>A (p.Lys652=)
c.1890G>A (p.Lys630=)
c.1848G>A (p.Lys616=)
c.921G>A (p.Lys307=)
 gnomAD v4
20g.63407359T>ACA409639548KCNQ2c.1958A>T (p.Lys653Met)
c.1904A>T (p.Lys635Met)
c.1301A>T (p.Lys434Met)
n.61A>T
c.1811A>T (p.Lys604Met)
c.1472A>T (p.Lys491Met)
c.1820A>T (p.Lys607Met)
c.1928A>T (p.Lys643Met)
c.1892A>T (p.Lys631Met)
c.1850A>T (p.Lys617Met)
c.1679+6091A>T (n.1679+6091A>T)
c.1946A>T (p.Lys649Met)
c.2012A>T (p.Lys671Met)
c.2009A>T (p.Lys670Met)
c.1982A>T (p.Lys661Met)
c.1901A>T (p.Lys634Met)
c.1886A>T (p.Lys629Met)
c.1493A>T (p.Lys498Met)
c.1955A>T (p.Lys652Met)
c.1889A>T (p.Lys630Met)
c.1847A>T (p.Lys616Met)
c.920A>T (p.Lys307Met)
20g.63407359T>CCA409639550KCNQ2c.1958A>G (p.Lys653Arg)
c.1904A>G (p.Lys635Arg)
c.1301A>G (p.Lys434Arg)
n.61A>G
c.1811A>G (p.Lys604Arg)
c.1472A>G (p.Lys491Arg)
c.1820A>G (p.Lys607Arg)
c.1928A>G (p.Lys643Arg)
c.1892A>G (p.Lys631Arg)
c.1850A>G (p.Lys617Arg)
c.1679+6091A>G (n.1679+6091A>G)
c.1946A>G (p.Lys649Arg)
c.2012A>G (p.Lys671Arg)
c.2009A>G (p.Lys670Arg)
c.1982A>G (p.Lys661Arg)
c.1901A>G (p.Lys634Arg)
c.1886A>G (p.Lys629Arg)
c.1493A>G (p.Lys498Arg)
c.1955A>G (p.Lys652Arg)
c.1889A>G (p.Lys630Arg)
c.1847A>G (p.Lys616Arg)
c.920A>G (p.Lys307Arg)
20g.63407359T>GCA409639552KCNQ2c.1958A>C (p.Lys653Thr)
c.1904A>C (p.Lys635Thr)
c.1301A>C (p.Lys434Thr)
n.61A>C
c.1811A>C (p.Lys604Thr)
c.1472A>C (p.Lys491Thr)
c.1820A>C (p.Lys607Thr)
c.1928A>C (p.Lys643Thr)
c.1892A>C (p.Lys631Thr)
c.1850A>C (p.Lys617Thr)
c.1679+6091A>C (n.1679+6091A>C)
c.1946A>C (p.Lys649Thr)
c.2012A>C (p.Lys671Thr)
c.2009A>C (p.Lys670Thr)
c.1982A>C (p.Lys661Thr)
c.1901A>C (p.Lys634Thr)
c.1886A>C (p.Lys629Thr)
c.1493A>C (p.Lys498Thr)
c.1955A>C (p.Lys652Thr)
c.1889A>C (p.Lys630Thr)
c.1847A>C (p.Lys616Thr)
c.920A>C (p.Lys307Thr)
20g.63407360T>ACA409639555KCNQ2c.1957A>T (p.Lys653Ter)
c.1903A>T (p.Lys635Ter)
c.1300A>T (p.Lys434Ter)
n.60A>T
c.1810A>T (p.Lys604Ter)
c.1471A>T (p.Lys491Ter)
c.1819A>T (p.Lys607Ter)
c.1927A>T (p.Lys643Ter)
c.1891A>T (p.Lys631Ter)
c.1849A>T (p.Lys617Ter)
c.1679+6090A>T (n.1679+6090A>T)
c.1945A>T (p.Lys649Ter)
c.2011A>T (p.Lys671Ter)
c.2008A>T (p.Lys670Ter)
c.1981A>T (p.Lys661Ter)
c.1900A>T (p.Lys634Ter)
c.1885A>T (p.Lys629Ter)
c.1492A>T (p.Lys498Ter)
c.1954A>T (p.Lys652Ter)
c.1888A>T (p.Lys630Ter)
c.1846A>T (p.Lys616Ter)
c.919A>T (p.Lys307Ter)
20g.63407360T>CCA409639557KCNQ2c.1957A>G (p.Lys653Glu)
c.1903A>G (p.Lys635Glu)
c.1300A>G (p.Lys434Glu)
n.60A>G
c.1810A>G (p.Lys604Glu)
c.1471A>G (p.Lys491Glu)
c.1819A>G (p.Lys607Glu)
c.1927A>G (p.Lys643Glu)
c.1891A>G (p.Lys631Glu)
c.1849A>G (p.Lys617Glu)
c.1679+6090A>G (n.1679+6090A>G)
c.1945A>G (p.Lys649Glu)
c.2011A>G (p.Lys671Glu)
c.2008A>G (p.Lys670Glu)
c.1981A>G (p.Lys661Glu)
c.1900A>G (p.Lys634Glu)
c.1885A>G (p.Lys629Glu)
c.1492A>G (p.Lys498Glu)
c.1954A>G (p.Lys652Glu)
c.1888A>G (p.Lys630Glu)
c.1846A>G (p.Lys616Glu)
c.919A>G (p.Lys307Glu)
20g.63407360T>GCA409639559KCNQ2c.1957A>C (p.Lys653Gln)
c.1903A>C (p.Lys635Gln)
c.1300A>C (p.Lys434Gln)
n.60A>C
c.1810A>C (p.Lys604Gln)
c.1471A>C (p.Lys491Gln)
c.1819A>C (p.Lys607Gln)
c.1927A>C (p.Lys643Gln)
c.1891A>C (p.Lys631Gln)
c.1849A>C (p.Lys617Gln)
c.1679+6090A>C (n.1679+6090A>C)
c.1945A>C (p.Lys649Gln)
c.2011A>C (p.Lys671Gln)
c.2008A>C (p.Lys670Gln)
c.1981A>C (p.Lys661Gln)
c.1900A>C (p.Lys634Gln)
c.1885A>C (p.Lys629Gln)
c.1492A>C (p.Lys498Gln)
c.1954A>C (p.Lys652Gln)
c.1888A>C (p.Lys630Gln)
c.1846A>C (p.Lys616Gln)
c.919A>C (p.Lys307Gln)
20g.63407361C>ACA409639561KCNQ2c.1956G>T (p.Glu652Asp)
c.1902G>T (p.Glu634Asp)
c.1299G>T (p.Glu433Asp)
n.59G>T
c.1809G>T (p.Glu603Asp)
c.1470G>T (p.Glu490Asp)
c.1818G>T (p.Glu606Asp)
c.1926G>T (p.Glu642Asp)
c.1890G>T (p.Glu630Asp)
c.1848G>T (p.Glu616Asp)
c.1679+6089G>T (n.1679+6089G>T)
c.1944G>T (p.Glu648Asp)
c.2010G>T (p.Glu670Asp)
c.2007G>T (p.Glu669Asp)
c.1980G>T (p.Glu660Asp)
c.1899G>T (p.Glu633Asp)
c.1884G>T (p.Glu628Asp)
c.1491G>T (p.Glu497Asp)
c.1953G>T (p.Glu651Asp)
c.1887G>T (p.Glu629Asp)
c.1845G>T (p.Glu615Asp)
c.918G>T (p.Glu306Asp)
 gnomAD v4
20g.63407361C=CA2374774569KCNQ2c.1956G= (p.Glu652=)
c.1902G= (p.Glu634=)
c.1299G= (p.Glu433=)
n.59G=
c.1809G= (p.Glu603=)
c.1470G= (p.Glu490=)
c.1818G= (p.Glu606=)
c.1926G= (p.Glu642=)
c.1890G= (p.Glu630=)
c.1848G= (p.Glu616=)
c.1679+6089G= (n.1679+6089G=)
c.1944G= (p.Glu648=)
c.2010G= (p.Glu670=)
c.2007G= (p.Glu669=)
c.1980G= (p.Glu660=)
c.1899G= (p.Glu633=)
c.1884G= (p.Glu628=)
c.1491G= (p.Glu497=)
c.1953G= (p.Glu651=)
c.1887G= (p.Glu629=)
c.1845G= (p.Glu615=)
c.918G= (p.Glu306=)
20g.63407361C>GCA409639563KCNQ2c.1956G>C (p.Glu652Asp)
c.1902G>C (p.Glu634Asp)
c.1299G>C (p.Glu433Asp)
n.59G>C
c.1809G>C (p.Glu603Asp)
c.1470G>C (p.Glu490Asp)
c.1818G>C (p.Glu606Asp)
c.1926G>C (p.Glu642Asp)
c.1890G>C (p.Glu630Asp)
c.1848G>C (p.Glu616Asp)
c.1679+6089G>C (n.1679+6089G>C)
c.1944G>C (p.Glu648Asp)
c.2010G>C (p.Glu670Asp)
c.2007G>C (p.Glu669Asp)
c.1980G>C (p.Glu660Asp)
c.1899G>C (p.Glu633Asp)
c.1884G>C (p.Glu628Asp)
c.1491G>C (p.Glu497Asp)
c.1953G>C (p.Glu651Asp)
c.1887G>C (p.Glu629Asp)
c.1845G>C (p.Glu615Asp)
c.918G>C (p.Glu306Asp)
20g.63407361C>TCA9958201KCNQ2c.1956G>A (p.Glu652=)
c.1902G>A (p.Glu634=)
c.1299G>A (p.Glu433=)
n.59G>A
c.1809G>A (p.Glu603=)
c.1470G>A (p.Glu490=)
c.1818G>A (p.Glu606=)
c.1926G>A (p.Glu642=)
c.1890G>A (p.Glu630=)
c.1848G>A (p.Glu616=)
c.1679+6089G>A (n.1679+6089G>A)
c.1944G>A (p.Glu648=)
c.2010G>A (p.Glu670=)
c.2007G>A (p.Glu669=)
c.1980G>A (p.Glu660=)
c.1899G>A (p.Glu633=)
c.1884G>A (p.Glu628=)
c.1491G>A (p.Glu497=)
c.1953G>A (p.Glu651=)
c.1887G>A (p.Glu629=)
c.1845G>A (p.Glu615=)
c.918G>A (p.Glu306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407362T>ACA409639566KCNQ2c.1955A>T (p.Glu652Val)
c.1901A>T (p.Glu634Val)
c.1298A>T (p.Glu433Val)
n.58A>T
c.1808A>T (p.Glu603Val)
c.1469A>T (p.Glu490Val)
c.1817A>T (p.Glu606Val)
c.1925A>T (p.Glu642Val)
c.1889A>T (p.Glu630Val)
c.1847A>T (p.Glu616Val)
c.1679+6088A>T (n.1679+6088A>T)
c.1943A>T (p.Glu648Val)
c.2009A>T (p.Glu670Val)
c.2006A>T (p.Glu669Val)
c.1979A>T (p.Glu660Val)
c.1898A>T (p.Glu633Val)
c.1883A>T (p.Glu628Val)
c.1490A>T (p.Glu497Val)
c.1952A>T (p.Glu651Val)
c.1886A>T (p.Glu629Val)
c.1844A>T (p.Glu615Val)
c.917A>T (p.Glu306Val)
20g.63407362T>CCA409639568KCNQ2c.1955A>G (p.Glu652Gly)
c.1901A>G (p.Glu634Gly)
c.1298A>G (p.Glu433Gly)
n.58A>G
c.1808A>G (p.Glu603Gly)
c.1469A>G (p.Glu490Gly)
c.1817A>G (p.Glu606Gly)
c.1925A>G (p.Glu642Gly)
c.1889A>G (p.Glu630Gly)
c.1847A>G (p.Glu616Gly)
c.1679+6088A>G (n.1679+6088A>G)
c.1943A>G (p.Glu648Gly)
c.2009A>G (p.Glu670Gly)
c.2006A>G (p.Glu669Gly)
c.1979A>G (p.Glu660Gly)
c.1898A>G (p.Glu633Gly)
c.1883A>G (p.Glu628Gly)
c.1490A>G (p.Glu497Gly)
c.1952A>G (p.Glu651Gly)
c.1886A>G (p.Glu629Gly)
c.1844A>G (p.Glu615Gly)
c.917A>G (p.Glu306Gly)
 gnomAD v4
20g.63407362T>GCA409639570KCNQ2c.1955A>C (p.Glu652Ala)
c.1901A>C (p.Glu634Ala)
c.1298A>C (p.Glu433Ala)
n.58A>C
c.1808A>C (p.Glu603Ala)
c.1469A>C (p.Glu490Ala)
c.1817A>C (p.Glu606Ala)
c.1925A>C (p.Glu642Ala)
c.1889A>C (p.Glu630Ala)
c.1847A>C (p.Glu616Ala)
c.1679+6088A>C (n.1679+6088A>C)
c.1943A>C (p.Glu648Ala)
c.2009A>C (p.Glu670Ala)
c.2006A>C (p.Glu669Ala)
c.1979A>C (p.Glu660Ala)
c.1898A>C (p.Glu633Ala)
c.1883A>C (p.Glu628Ala)
c.1490A>C (p.Glu497Ala)
c.1952A>C (p.Glu651Ala)
c.1886A>C (p.Glu629Ala)
c.1844A>C (p.Glu615Ala)
c.917A>C (p.Glu306Ala)
20g.63407363C>ACA409639575KCNQ2c.1954G>T (p.Glu652Ter)
c.1900G>T (p.Glu634Ter)
c.1297G>T (p.Glu433Ter)
n.57G>T
c.1807G>T (p.Glu603Ter)
c.1468G>T (p.Glu490Ter)
c.1816G>T (p.Glu606Ter)
c.1924G>T (p.Glu642Ter)
c.1888G>T (p.Glu630Ter)
c.1846G>T (p.Glu616Ter)
c.1679+6087G>T (n.1679+6087G>T)
c.1942G>T (p.Glu648Ter)
c.2008G>T (p.Glu670Ter)
c.2005G>T (p.Glu669Ter)
c.1978G>T (p.Glu660Ter)
c.1897G>T (p.Glu633Ter)
c.1882G>T (p.Glu628Ter)
c.1489G>T (p.Glu497Ter)
c.1951G>T (p.Glu651Ter)
c.1885G>T (p.Glu629Ter)
c.1843G>T (p.Glu615Ter)
c.916G>T (p.Glu306Ter)
 gnomAD v4
20g.63407363C=CA2374774570KCNQ2c.1954G= (p.Glu652=)
c.1900G= (p.Glu634=)
c.1297G= (p.Glu433=)
n.57G=
c.1807G= (p.Glu603=)
c.1468G= (p.Glu490=)
c.1816G= (p.Glu606=)
c.1924G= (p.Glu642=)
c.1888G= (p.Glu630=)
c.1846G= (p.Glu616=)
c.1679+6087G= (n.1679+6087G=)
c.1942G= (p.Glu648=)
c.2008G= (p.Glu670=)
c.2005G= (p.Glu669=)
c.1978G= (p.Glu660=)
c.1897G= (p.Glu633=)
c.1882G= (p.Glu628=)
c.1489G= (p.Glu497=)
c.1951G= (p.Glu651=)
c.1885G= (p.Glu629=)
c.1843G= (p.Glu615=)
c.916G= (p.Glu306=)
20g.63407363C>GCA409639576KCNQ2c.1954G>C (p.Glu652Gln)
c.1900G>C (p.Glu634Gln)
c.1297G>C (p.Glu433Gln)
n.57G>C
c.1807G>C (p.Glu603Gln)
c.1468G>C (p.Glu490Gln)
c.1816G>C (p.Glu606Gln)
c.1924G>C (p.Glu642Gln)
c.1888G>C (p.Glu630Gln)
c.1846G>C (p.Glu616Gln)
c.1679+6087G>C (n.1679+6087G>C)
c.1942G>C (p.Glu648Gln)
c.2008G>C (p.Glu670Gln)
c.2005G>C (p.Glu669Gln)
c.1978G>C (p.Glu660Gln)
c.1897G>C (p.Glu633Gln)
c.1882G>C (p.Glu628Gln)
c.1489G>C (p.Glu497Gln)
c.1951G>C (p.Glu651Gln)
c.1885G>C (p.Glu629Gln)
c.1843G>C (p.Glu615Gln)
c.916G>C (p.Glu306Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63407363C>TCA409639573KCNQ2c.1954G>A (p.Glu652Lys)
c.1900G>A (p.Glu634Lys)
c.1297G>A (p.Glu433Lys)
n.57G>A
c.1807G>A (p.Glu603Lys)
c.1468G>A (p.Glu490Lys)
c.1816G>A (p.Glu606Lys)
c.1924G>A (p.Glu642Lys)
c.1888G>A (p.Glu630Lys)
c.1846G>A (p.Glu616Lys)
c.1679+6087G>A (n.1679+6087G>A)
c.1942G>A (p.Glu648Lys)
c.2008G>A (p.Glu670Lys)
c.2005G>A (p.Glu669Lys)
c.1978G>A (p.Glu660Lys)
c.1897G>A (p.Glu633Lys)
c.1882G>A (p.Glu628Lys)
c.1489G>A (p.Glu497Lys)
c.1951G>A (p.Glu651Lys)
c.1885G>A (p.Glu629Lys)
c.1843G>A (p.Glu615Lys)
c.916G>A (p.Glu306Lys)
20g.63407364C>ACA409639579KCNQ2c.1953G>T (p.Met651Ile)
c.1899G>T (p.Met633Ile)
c.1296G>T (p.Met432Ile)
n.56G>T
c.1806G>T (p.Met602Ile)
c.1467G>T (p.Met489Ile)
c.1815G>T (p.Met605Ile)
c.1923G>T (p.Met641Ile)
c.1887G>T (p.Met629Ile)
c.1845G>T (p.Met615Ile)
c.1679+6086G>T (n.1679+6086G>T)
c.1941G>T (p.Met647Ile)
c.2007G>T (p.Met669Ile)
c.2004G>T (p.Met668Ile)
c.1977G>T (p.Met659Ile)
c.1896G>T (p.Met632Ile)
c.1881G>T (p.Met627Ile)
c.1488G>T (p.Met496Ile)
c.1950G>T (p.Met650Ile)
c.1884G>T (p.Met628Ile)
c.1842G>T (p.Met614Ile)
c.915G>T (p.Met305Ile)
20g.63407364C>GCA409639581KCNQ2c.1953G>C (p.Met651Ile)
c.1899G>C (p.Met633Ile)
c.1296G>C (p.Met432Ile)
n.56G>C
c.1806G>C (p.Met602Ile)
c.1467G>C (p.Met489Ile)
c.1815G>C (p.Met605Ile)
c.1923G>C (p.Met641Ile)
c.1887G>C (p.Met629Ile)
c.1845G>C (p.Met615Ile)
c.1679+6086G>C (n.1679+6086G>C)
c.1941G>C (p.Met647Ile)
c.2007G>C (p.Met669Ile)
c.2004G>C (p.Met668Ile)
c.1977G>C (p.Met659Ile)
c.1896G>C (p.Met632Ile)
c.1881G>C (p.Met627Ile)
c.1488G>C (p.Met496Ile)
c.1950G>C (p.Met650Ile)
c.1884G>C (p.Met628Ile)
c.1842G>C (p.Met614Ile)
c.915G>C (p.Met305Ile)
20g.63407364C>TCA409639582KCNQ2c.1953G>A (p.Met651Ile)
c.1899G>A (p.Met633Ile)
c.1296G>A (p.Met432Ile)
n.56G>A
c.1806G>A (p.Met602Ile)
c.1467G>A (p.Met489Ile)
c.1815G>A (p.Met605Ile)
c.1923G>A (p.Met641Ile)
c.1887G>A (p.Met629Ile)
c.1845G>A (p.Met615Ile)
c.1679+6086G>A (n.1679+6086G>A)
c.1941G>A (p.Met647Ile)
c.2007G>A (p.Met669Ile)
c.2004G>A (p.Met668Ile)
c.1977G>A (p.Met659Ile)
c.1896G>A (p.Met632Ile)
c.1881G>A (p.Met627Ile)
c.1488G>A (p.Met496Ile)
c.1950G>A (p.Met650Ile)
c.1884G>A (p.Met628Ile)
c.1842G>A (p.Met614Ile)
c.915G>A (p.Met305Ile)
 COSMIC COSMIC COSMIC
20g.63407365A=CA2374774571KCNQ2c.1952T= (p.Met651=)
c.1898T= (p.Met633=)
c.1295T= (p.Met432=)
n.55T=
c.1805T= (p.Met602=)
c.1466T= (p.Met489=)
c.1814T= (p.Met605=)
c.1922T= (p.Met641=)
c.1886T= (p.Met629=)
c.1844T= (p.Met615=)
c.1679+6085T= (n.1679+6085T=)
c.1940T= (p.Met647=)
c.2006T= (p.Met669=)
c.2003T= (p.Met668=)
c.1976T= (p.Met659=)
c.1895T= (p.Met632=)
c.1880T= (p.Met627=)
c.1487T= (p.Met496=)
c.1949T= (p.Met650=)
c.1883T= (p.Met628=)
c.1841T= (p.Met614=)
c.914T= (p.Met305=)
20g.63407365A>CCA409639585KCNQ2c.1952T>G (p.Met651Arg)
c.1898T>G (p.Met633Arg)
c.1295T>G (p.Met432Arg)
n.55T>G
c.1805T>G (p.Met602Arg)
c.1466T>G (p.Met489Arg)
c.1814T>G (p.Met605Arg)
c.1922T>G (p.Met641Arg)
c.1886T>G (p.Met629Arg)
c.1844T>G (p.Met615Arg)
c.1679+6085T>G (n.1679+6085T>G)
c.1940T>G (p.Met647Arg)
c.2006T>G (p.Met669Arg)
c.2003T>G (p.Met668Arg)
c.1976T>G (p.Met659Arg)
c.1895T>G (p.Met632Arg)
c.1880T>G (p.Met627Arg)
c.1487T>G (p.Met496Arg)
c.1949T>G (p.Met650Arg)
c.1883T>G (p.Met628Arg)
c.1841T>G (p.Met614Arg)
c.914T>G (p.Met305Arg)
20g.63407365A>GCA9958202KCNQ2c.1952T>C (p.Met651Thr)
c.1898T>C (p.Met633Thr)
c.1295T>C (p.Met432Thr)
n.55T>C
c.1805T>C (p.Met602Thr)
c.1466T>C (p.Met489Thr)
c.1814T>C (p.Met605Thr)
c.1922T>C (p.Met641Thr)
c.1886T>C (p.Met629Thr)
c.1844T>C (p.Met615Thr)
c.1679+6085T>C (n.1679+6085T>C)
c.1940T>C (p.Met647Thr)
c.2006T>C (p.Met669Thr)
c.2003T>C (p.Met668Thr)
c.1976T>C (p.Met659Thr)
c.1895T>C (p.Met632Thr)
c.1880T>C (p.Met627Thr)
c.1487T>C (p.Met496Thr)
c.1949T>C (p.Met650Thr)
c.1883T>C (p.Met628Thr)
c.1841T>C (p.Met614Thr)
c.914T>C (p.Met305Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63407365A>TCA409639589KCNQ2c.1952T>A (p.Met651Lys)
c.1898T>A (p.Met633Lys)
c.1295T>A (p.Met432Lys)
n.55T>A
c.1805T>A (p.Met602Lys)
c.1466T>A (p.Met489Lys)
c.1814T>A (p.Met605Lys)
c.1922T>A (p.Met641Lys)
c.1886T>A (p.Met629Lys)
c.1844T>A (p.Met615Lys)
c.1679+6085T>A (n.1679+6085T>A)
c.1940T>A (p.Met647Lys)
c.2006T>A (p.Met669Lys)
c.2003T>A (p.Met668Lys)
c.1976T>A (p.Met659Lys)
c.1895T>A (p.Met632Lys)
c.1880T>A (p.Met627Lys)
c.1487T>A (p.Met496Lys)
c.1949T>A (p.Met650Lys)
c.1883T>A (p.Met628Lys)
c.1841T>A (p.Met614Lys)
c.914T>A (p.Met305Lys)
20g.63407366T>ACA409639591KCNQ2c.1951A>T (p.Met651Leu)
c.1897A>T (p.Met633Leu)
c.1294A>T (p.Met432Leu)
n.54A>T
c.1804A>T (p.Met602Leu)
c.1465A>T (p.Met489Leu)
c.1813A>T (p.Met605Leu)
c.1921A>T (p.Met641Leu)
c.1885A>T (p.Met629Leu)
c.1843A>T (p.Met615Leu)
c.1679+6084A>T (n.1679+6084A>T)
c.1939A>T (p.Met647Leu)
c.2005A>T (p.Met669Leu)
c.2002A>T (p.Met668Leu)
c.1975A>T (p.Met659Leu)
c.1894A>T (p.Met632Leu)
c.1879A>T (p.Met627Leu)
c.1486A>T (p.Met496Leu)
c.1948A>T (p.Met650Leu)
c.1882A>T (p.Met628Leu)
c.1840A>T (p.Met614Leu)
c.913A>T (p.Met305Leu)
20g.63407366T>CCA317422652KCNQ2c.1951A>G (p.Met651Val)
c.1897A>G (p.Met633Val)
c.1294A>G (p.Met432Val)
n.54A>G
c.1804A>G (p.Met602Val)
c.1465A>G (p.Met489Val)
c.1813A>G (p.Met605Val)
c.1921A>G (p.Met641Val)
c.1885A>G (p.Met629Val)
c.1843A>G (p.Met615Val)
c.1679+6084A>G (n.1679+6084A>G)
c.1939A>G (p.Met647Val)
c.2005A>G (p.Met669Val)
c.2002A>G (p.Met668Val)
c.1975A>G (p.Met659Val)
c.1894A>G (p.Met632Val)
c.1879A>G (p.Met627Val)
c.1486A>G (p.Met496Val)
c.1948A>G (p.Met650Val)
c.1882A>G (p.Met628Val)
c.1840A>G (p.Met614Val)
c.913A>G (p.Met305Val)
 dbSNP gnomAD v3 gnomAD v4
20g.63407366T>GCA409639594KCNQ2c.1951A>C (p.Met651Leu)
c.1897A>C (p.Met633Leu)
c.1294A>C (p.Met432Leu)
n.54A>C
c.1804A>C (p.Met602Leu)
c.1465A>C (p.Met489Leu)
c.1813A>C (p.Met605Leu)
c.1921A>C (p.Met641Leu)
c.1885A>C (p.Met629Leu)
c.1843A>C (p.Met615Leu)
c.1679+6084A>C (n.1679+6084A>C)
c.1939A>C (p.Met647Leu)
c.2005A>C (p.Met669Leu)
c.2002A>C (p.Met668Leu)
c.1975A>C (p.Met659Leu)
c.1894A>C (p.Met632Leu)
c.1879A>C (p.Met627Leu)
c.1486A>C (p.Met496Leu)
c.1948A>C (p.Met650Leu)
c.1882A>C (p.Met628Leu)
c.1840A>C (p.Met614Leu)
c.913A>C (p.Met305Leu)
20g.63407366T=CA2374774572KCNQ2c.1951A= (p.Met651=)
c.1897A= (p.Met633=)
c.1294A= (p.Met432=)
n.54A=
c.1804A= (p.Met602=)
c.1465A= (p.Met489=)
c.1813A= (p.Met605=)
c.1921A= (p.Met641=)
c.1885A= (p.Met629=)
c.1843A= (p.Met615=)
c.1679+6084A= (n.1679+6084A=)
c.1939A= (p.Met647=)
c.2005A= (p.Met669=)
c.2002A= (p.Met668=)
c.1975A= (p.Met659=)
c.1894A= (p.Met632=)
c.1879A= (p.Met627=)
c.1486A= (p.Met496=)
c.1948A= (p.Met650=)
c.1882A= (p.Met628=)
c.1840A= (p.Met614=)
c.913A= (p.Met305=)

Number of alleles fetched