Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43417001G>ACA321324477SIK1c.2093C>T (p.Pro698Leu)
c.1946C>T (p.Pro649Leu)
 ClinVar dbSNP
21g.43417001G>CCA410606668SIK1c.2093C>G (p.Pro698Arg)
c.1946C>G (p.Pro649Arg)
21g.43417001G=CA2391216280SIK1c.2093C= (p.Pro698=)
c.1946C= (p.Pro649=)
21g.43417001G>TCA410606669SIK1c.2093C>A (p.Pro698His)
c.1946C>A (p.Pro649His)
21g.43417002G>ACA410606670SIK1c.2092C>T (p.Pro698Ser)
c.1945C>T (p.Pro649Ser)
 dbSNP
21g.43417002G>CCA410606671SIK1c.2092C>G (p.Pro698Ala)
c.1945C>G (p.Pro649Ala)
21g.43417002G=CA2391216281SIK1c.2092C= (p.Pro698=)
c.1945C= (p.Pro649=)
21g.43417002G>TCA410606672SIK1c.2092C>A (p.Pro698Thr)
c.1945C>A (p.Pro649Thr)
21g.43417003G>ACA321324478SIK1c.2091C>T (p.Leu697=)
c.1944C>T (p.Leu648=)
 ClinVar dbSNP
21g.43417003G=CA2391216282SIK1c.2091C= (p.Leu697=)
c.1944C= (p.Leu648=)
21g.43417004A>CCA410606673SIK1c.2090T>G (p.Leu697Arg)
c.1943T>G (p.Leu648Arg)
21g.43417004A>GCA410606674SIK1c.2090T>C (p.Leu697Pro)
c.1943T>C (p.Leu648Pro)
21g.43417004A>TCA410606675SIK1c.2090T>A (p.Leu697His)
c.1943T>A (p.Leu648His)
21g.43417005G>ACA410606676SIK1c.2089C>T (p.Leu697Phe)
c.1942C>T (p.Leu648Phe)
21g.43417005G>CCA410606677SIK1c.2089C>G (p.Leu697Val)
c.1942C>G (p.Leu648Val)
 dbSNP
21g.43417005G>TCA410606678SIK1c.2089C>A (p.Leu697Ile)
c.1942C>A (p.Leu648Ile)
 dbSNP
21g.43417006C=CA2391216283SIK1c.2088G= (p.Pro696=)
c.1941G= (p.Pro647=)
21g.43417006C>TCA321324480SIK1c.2088G>A (p.Pro696=)
c.1941G>A (p.Pro647=)
 ClinVar dbSNP COSMIC
21g.43417007G>ACA16603199SIK1c.2087C>T (p.Pro696Leu)
c.1940C>T (p.Pro647Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.43417007G>CCA410606679SIK1c.2087C>G (p.Pro696Arg)
c.1940C>G (p.Pro647Arg)
21g.43417007G=CA2391216284SIK1c.2087C= (p.Pro696=)
c.1940C= (p.Pro647=)
21g.43417007G>TCA410606680SIK1c.2087C>A (p.Pro696Gln)
c.1940C>A (p.Pro647Gln)
21g.43417010delCA2818014409SIK1c.2087del (p.Pro696ArgfsTer?)
c.1940del (p.Pro647ArgfsTer?)
21g.43417008G>ACA321324486SIK1c.2086C>T (p.Pro696Ser)
c.1939C>T (p.Pro647Ser)
 ClinVar dbSNP
21g.43417008G>CCA410606681SIK1c.2086C>G (p.Pro696Ala)
c.1939C>G (p.Pro647Ala)
21g.43417008G=CA2391216285SIK1c.2086C= (p.Pro696=)
c.1939C= (p.Pro647=)
21g.43417008G>TCA410606682SIK1c.2086C>A (p.Pro696Thr)
c.1939C>A (p.Pro647Thr)
 dbSNP
21g.43417010G>ACA410606683SIK1c.2084C>T (p.Ala695Val)
c.1937C>T (p.Ala646Val)
 ClinVar dbSNP
21g.43417010G>CCA410606684SIK1c.2084C>G (p.Ala695Gly)
c.1937C>G (p.Ala646Gly)
21g.43417010G>TCA410606685SIK1c.2084C>A (p.Ala695Asp)
c.1937C>A (p.Ala646Asp)
21g.43417011C>ACA410606686SIK1c.2083G>T (p.Ala695Ser)
c.1936G>T (p.Ala646Ser)
 gnomAD v4
21g.43417011C=CA2391216286SIK1c.2083G= (p.Ala695=)
c.1936G= (p.Ala646=)
21g.43417011C>GCA321324490SIK1c.2083G>C (p.Ala695Pro)
c.1936G>C (p.Ala646Pro)
 ClinVar
21g.43417011C>TCA410606687SIK1c.2083G>A (p.Ala695Thr)
c.1936G>A (p.Ala646Thr)
21g.43417013G>ACA410606688SIK1c.2081C>T (p.Ala694Val)
c.1934C>T (p.Ala645Val)
21g.43417013G>CCA410606690SIK1c.2081C>G (p.Ala694Gly)
c.1934C>G (p.Ala645Gly)
21g.43417013G>TCA410606689SIK1c.2081C>A (p.Ala694Asp)
c.1934C>A (p.Ala645Asp)
21g.43417014C>ACA410606691SIK1c.2080G>T (p.Ala694Ser)
c.1933G>T (p.Ala645Ser)
21g.43417014C=CA2391216287SIK1c.2080G= (p.Ala694=)
c.1933G= (p.Ala645=)
21g.43417014C>GCA410606693SIK1c.2080G>C (p.Ala694Pro)
c.1933G>C (p.Ala645Pro)
21g.43417014C>TCA410606692SIK1c.2080G>A (p.Ala694Thr)
c.1933G>A (p.Ala645Thr)
 dbSNP
21g.43417016C>ACA410606694SIK1c.2078G>T (p.Gly693Val)
c.1931G>T (p.Gly644Val)
21g.43417016C>GCA410606695SIK1c.2078G>C (p.Gly693Ala)
c.1931G>C (p.Gly644Ala)
21g.43417016C>TCA410606696SIK1c.2078G>A (p.Gly693Glu)
c.1931G>A (p.Gly644Glu)
21g.43417017C>ACA410606697SIK1c.2077G>T (p.Gly693Trp)
c.1930G>T (p.Gly644Trp)
21g.43417017C>GCA410606698SIK1c.2077G>C (p.Gly693Arg)
c.1930G>C (p.Gly644Arg)
21g.43417017C>TCA410606699SIK1c.2077G>A (p.Gly693Arg)
c.1930G>A (p.Gly644Arg)
21g.43417018A>CCA2818014410SIK1c.2076T>G (p.Pro692=)
c.1929T>G (p.Pro643=)
21g.43417019G>ACA410606700SIK1c.2075C>T (p.Pro692Leu)
c.1928C>T (p.Pro643Leu)
21g.43417019G>CCA410606701SIK1c.2075C>G (p.Pro692Arg)
c.1928C>G (p.Pro643Arg)
21g.43417019G>TCA410606702SIK1c.2075C>A (p.Pro692His)
c.1928C>A (p.Pro643His)
21g.43417020G>ACA410606703SIK1c.2074C>T (p.Pro692Ser)
c.1927C>T (p.Pro643Ser)
 dbSNP
21g.43417020G>CCA410606704SIK1c.2074C>G (p.Pro692Ala)
c.1927C>G (p.Pro643Ala)
 ClinVar dbSNP
21g.43417020G=CA2391216288SIK1c.2074C= (p.Pro692=)
c.1927C= (p.Pro643=)
21g.43417020G>TCA410606705SIK1c.2074C>A (p.Pro692Thr)
c.1927C>A (p.Pro643Thr)
21g.43417021G>TCA2573157454SIK1c.2073C>A (p.Gly691=)
c.1926C>A (p.Gly642=)
 ClinVar dbSNP
21g.43417022C>ACA410606707SIK1c.2072G>T (p.Gly691Val)
c.1925G>T (p.Gly642Val)
21g.43417022C=CA2391216289SIK1c.2072G= (p.Gly691=)
c.1925G= (p.Gly642=)
21g.43417022C>GCA410606706SIK1c.2072G>C (p.Gly691Ala)
c.1925G>C (p.Gly642Ala)
21g.43417022C>TCA321324493SIK1c.2072G>A (p.Gly691Asp)
c.1925G>A (p.Gly642Asp)
 ClinVar dbSNP gnomAD v4
21g.43417023C>ACA410606708SIK1c.2071G>T (p.Gly691Cys)
c.1924G>T (p.Gly642Cys)
21g.43417023C>GCA410606709SIK1c.2071G>C (p.Gly691Arg)
c.1924G>C (p.Gly642Arg)
21g.43417023C>TCA410606710SIK1c.2071G>A (p.Gly691Ser)
c.1924G>A (p.Gly642Ser)
21g.43417024A>CCA410606711SIK1c.2070T>G (p.Asp690Glu)
c.1923T>G (p.Asp641Glu)
21g.43417024A>TCA410606712SIK1c.2070T>A (p.Asp690Glu)
c.1923T>A (p.Asp641Glu)
21g.43417025T>ACA410606713SIK1c.2069A>T (p.Asp690Val)
c.1922A>T (p.Asp641Val)
21g.43417025T>CCA410606714SIK1c.2069A>G (p.Asp690Gly)
c.1922A>G (p.Asp641Gly)
21g.43417025T>GCA410606715SIK1c.2069A>C (p.Asp690Ala)
c.1922A>C (p.Asp641Ala)
21g.43417026C>ACA410606716SIK1c.2068G>T (p.Asp690Tyr)
c.1921G>T (p.Asp641Tyr)
21g.43417026C>GCA410606717SIK1c.2068G>C (p.Asp690His)
c.1921G>C (p.Asp641His)
21g.43417026C>TCA410606718SIK1c.2068G>A (p.Asp690Asn)
c.1921G>A (p.Asp641Asn)
21g.43417027A>CCA410606719SIK1c.2067T>G (p.Cys689Trp)
c.1920T>G (p.Cys640Trp)
 gnomAD v4
21g.43417027A>TCA410606720SIK1c.2067T>A (p.Cys689Ter)
c.1920T>A (p.Cys640Ter)
21g.43417028C>ACA410606722SIK1c.2066G>T (p.Cys689Phe)
c.1919G>T (p.Cys640Phe)
21g.43417028C>GCA410606723SIK1c.2066G>C (p.Cys689Ser)
c.1919G>C (p.Cys640Ser)
21g.43417028C>TCA410606721SIK1c.2066G>A (p.Cys689Tyr)
c.1919G>A (p.Cys640Tyr)
21g.43417029A=CA2391216290SIK1c.2065T= (p.Cys689=)
c.1918T= (p.Cys640=)
21g.43417029A>CCA410606724SIK1c.2065T>G (p.Cys689Gly)
c.1918T>G (p.Cys640Gly)
21g.43417029A>GCA410606725SIK1c.2065T>C (p.Cys689Arg)
c.1918T>C (p.Cys640Arg)
21g.43417029A>TCA321324496SIK1c.2065T>A (p.Cys689Ser)
c.1918T>A (p.Cys640Ser)
 ClinVar dbSNP
21g.43417031G>ACA410606726SIK1c.2063C>T (p.Pro688Leu)
c.1916C>T (p.Pro639Leu)
21g.43417031G>CCA410606727SIK1c.2063C>G (p.Pro688Arg)
c.1916C>G (p.Pro639Arg)
21g.43417031G>TCA410606728SIK1c.2063C>A (p.Pro688His)
c.1916C>A (p.Pro639His)
21g.43417032G>ACA410606729SIK1c.2062C>T (p.Pro688Ser)
c.1915C>T (p.Pro639Ser)
 ClinVar
21g.43417032G>CCA410606730SIK1c.2062C>G (p.Pro688Ala)
c.1915C>G (p.Pro639Ala)
 ClinVar dbSNP
21g.43417032G=CA2391216291SIK1c.2062C= (p.Pro688=)
c.1915C= (p.Pro639=)
21g.43417032G>TCA321324499SIK1c.2062C>A (p.Pro688Thr)
c.1915C>A (p.Pro639Thr)
 dbSNP
21g.43417034G>ACA410606731SIK1c.2060C>T (p.Ala687Val)
c.1913C>T (p.Ala638Val)
 ClinVar dbSNP
21g.43417034G>CCA410606732SIK1c.2060C>G (p.Ala687Gly)
c.1913C>G (p.Ala638Gly)
21g.43417034G=CA2391216292SIK1c.2060C= (p.Ala687=)
c.1913C= (p.Ala638=)
21g.43417034G>TCA410606733SIK1c.2060C>A (p.Ala687Asp)
c.1913C>A (p.Ala638Asp)
 dbSNP
21g.43417035C>ACA410606734SIK1c.2059G>T (p.Ala687Ser)
c.1912G>T (p.Ala638Ser)
 ClinVar
21g.43417035C=CA2391216293SIK1c.2059G= (p.Ala687=)
c.1912G= (p.Ala638=)
21g.43417035C>GCA410606735SIK1c.2059G>C (p.Ala687Pro)
c.1912G>C (p.Ala638Pro)
21g.43417035C>TCA321324503SIK1c.2059G>A (p.Ala687Thr)
c.1912G>A (p.Ala638Thr)
 ClinVar dbSNP gnomAD v4
21g.43417036G>ACA749584956SIK1c.2058C>T (p.Ile686=)
c.1911C>T (p.Ile637=)
 ClinVar dbSNP
21g.43417036G>CCA410606736SIK1c.2058C>G (p.Ile686Met)
c.1911C>G (p.Ile637Met)
21g.43417036G=CA2391216294SIK1c.2058C= (p.Ile686=)
c.1911C= (p.Ile637=)
21g.43417036G>TCA2391216295SIK1c.2058C>A (p.Ile686=)
c.1911C>A (p.Ile637=)
 dbSNP
21g.43417037A>CCA410606737SIK1c.2057T>G (p.Ile686Ser)
c.1910T>G (p.Ile637Ser)
21g.43417037A>GCA410606738SIK1c.2057T>C (p.Ile686Thr)
c.1910T>C (p.Ile637Thr)
21g.43417037A>TCA410606739SIK1c.2057T>A (p.Ile686Asn)
c.1910T>A (p.Ile637Asn)
21g.43417038T>ACA410606740SIK1c.2056A>T (p.Ile686Phe)
c.1909A>T (p.Ile637Phe)
21g.43417038T>CCA410606741SIK1c.2056A>G (p.Ile686Val)
c.1909A>G (p.Ile637Val)
21g.43417038T>GCA410606742SIK1c.2056A>C (p.Ile686Leu)
c.1909A>C (p.Ile637Leu)
21g.43417039C=CA2391216296SIK1c.2055G= (p.Val685=)
c.1908G= (p.Val636=)
21g.43417039C>TCA2391216297SIK1c.2055G>A (p.Val685=)
c.1908G>A (p.Val636=)
 dbSNP
21g.43417040A>CCA410606743SIK1c.2054T>G (p.Val685Gly)
c.1907T>G (p.Val636Gly)
21g.43417040A>GCA410606744SIK1c.2054T>C (p.Val685Ala)
c.1907T>C (p.Val636Ala)
21g.43417040A>TCA410606745SIK1c.2054T>A (p.Val685Glu)
c.1907T>A (p.Val636Glu)
21g.43417041C>ACA410606747SIK1c.2053G>T (p.Val685Leu)
c.1906G>T (p.Val636Leu)
 COSMIC
21g.43417041C=CA2391216298SIK1c.2053G= (p.Val685=)
c.1906G= (p.Val636=)
21g.43417041C>GCA410606748SIK1c.2053G>C (p.Val685Leu)
c.1906G>C (p.Val636Leu)
21g.43417041C>TCA410606746SIK1c.2053G>A (p.Val685Met)
c.1906G>A (p.Val636Met)
 ClinVar dbSNP
21g.43417042A=CA2391216299SIK1c.2052T= (p.Phe684=)
c.1905T= (p.Phe635=)
21g.43417042A>CCA321324505SIK1c.2052T>G (p.Phe684Leu)
c.1905T>G (p.Phe635Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417042A>GCA2499225950SIK1c.2052T>C (p.Phe684=)
c.1905T>C (p.Phe635=)
 ClinVar dbSNP
21g.43417042A>TCA410606749SIK1c.2052T>A (p.Phe684Leu)
c.1905T>A (p.Phe635Leu)
 ClinVar dbSNP
21g.43417043A>CCA410606750SIK1c.2051T>G (p.Phe684Cys)
c.1904T>G (p.Phe635Cys)
 gnomAD v4
21g.43417043A>GCA410606751SIK1c.2051T>C (p.Phe684Ser)
c.1904T>C (p.Phe635Ser)
 dbSNP
21g.43417043A>TCA410606752SIK1c.2051T>A (p.Phe684Tyr)
c.1904T>A (p.Phe635Tyr)
21g.43417044A>CCA410606755SIK1c.2050T>G (p.Phe684Val)
c.1903T>G (p.Phe635Val)
 gnomAD v4
21g.43417044A>GCA410606754SIK1c.2050T>C (p.Phe684Leu)
c.1903T>C (p.Phe635Leu)
21g.43417044A>TCA410606753SIK1c.2050T>A (p.Phe684Ile)
c.1903T>A (p.Phe635Ile)
21g.43417045C=CA2391216300SIK1c.2049G= (p.Pro683=)
c.1902G= (p.Pro634=)
21g.43417045C>TCA321324508SIK1c.2049G>A (p.Pro683=)
c.1902G>A (p.Pro634=)
 ClinVar dbSNP gnomAD v4
21g.43417046G>ACA321324511SIK1c.2048C>T (p.Pro683Leu)
c.1901C>T (p.Pro634Leu)
 ClinVar dbSNP gnomAD v4
21g.43417046G>CCA410606756SIK1c.2048C>G (p.Pro683Arg)
c.1901C>G (p.Pro634Arg)
21g.43417046G=CA2391216301SIK1c.2048C= (p.Pro683=)
c.1901C= (p.Pro634=)
21g.43417046G>TCA321324516SIK1c.2048C>A (p.Pro683Gln)
c.1901C>A (p.Pro634Gln)
 dbSNP
21g.43417047G>ACA410606757SIK1c.2047C>T (p.Pro683Ser)
c.1900C>T (p.Pro634Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417047G>CCA410606758SIK1c.2047C>G (p.Pro683Ala)
c.1900C>G (p.Pro634Ala)
21g.43417047G=CA2391216302SIK1c.2047C= (p.Pro683=)
c.1900C= (p.Pro634=)
21g.43417047G>TCA410606759SIK1c.2047C>A (p.Pro683Thr)
c.1900C>A (p.Pro634Thr)
21g.43417048G>ACA749584977SIK1c.2046C>T (p.Ala682=)
c.1899C>T (p.Ala633=)
 dbSNP
21g.43417048G=CA2391216303SIK1c.2046C= (p.Ala682=)
c.1899C= (p.Ala633=)
21g.43417049G>ACA410606760SIK1c.2045C>T (p.Ala682Val)
c.1898C>T (p.Ala633Val)
 ClinVar dbSNP
21g.43417049G>CCA410606762SIK1c.2045C>G (p.Ala682Gly)
c.1898C>G (p.Ala633Gly)
21g.43417049G=CA2391216304SIK1c.2045C= (p.Ala682=)
c.1898C= (p.Ala633=)
21g.43417049G>TCA410606761SIK1c.2045C>A (p.Ala682Asp)
c.1898C>A (p.Ala633Asp)
21g.43417050C>ACA410606763SIK1c.2044G>T (p.Ala682Ser)
c.1897G>T (p.Ala633Ser)
21g.43417050C>GCA410606764SIK1c.2044G>C (p.Ala682Pro)
c.1897G>C (p.Ala633Pro)
21g.43417050C>TCA410606765SIK1c.2044G>A (p.Ala682Thr)
c.1897G>A (p.Ala633Thr)
 gnomAD v3 gnomAD v4
21g.43417051A>CCA2818014411SIK1c.2043T>G (p.Pro681=)
c.1896T>G (p.Pro632=)
21g.43417052G>ACA410606766SIK1c.2042C>T (p.Pro681Leu)
c.1895C>T (p.Pro632Leu)
 ClinVar dbSNP
21g.43417052G>CCA410606767SIK1c.2042C>G (p.Pro681Arg)
c.1895C>G (p.Pro632Arg)
21g.43417052G>TCA410606768SIK1c.2042C>A (p.Pro681His)
c.1895C>A (p.Pro632His)
21g.43417053G>ACA410606769SIK1c.2041C>T (p.Pro681Ser)
c.1894C>T (p.Pro632Ser)
21g.43417053G>CCA410606770SIK1c.2041C>G (p.Pro681Ala)
c.1894C>G (p.Pro632Ala)
21g.43417053G>TCA410606771SIK1c.2041C>A (p.Pro681Thr)
c.1894C>A (p.Pro632Thr)
21g.43417055G>ACA410606772SIK1c.2039C>T (p.Ala680Val)
c.1892C>T (p.Ala631Val)
21g.43417055G>CCA410606773SIK1c.2039C>G (p.Ala680Gly)
c.1892C>G (p.Ala631Gly)
21g.43417055G>TCA410606774SIK1c.2039C>A (p.Ala680Asp)
c.1892C>A (p.Ala631Asp)
21g.43417056C>ACA410606775SIK1c.2038G>T (p.Ala680Ser)
c.1891G>T (p.Ala631Ser)
21g.43417056C=CA2391216305SIK1c.2038G= (p.Ala680=)
c.1891G= (p.Ala631=)
21g.43417056C>GCA410606777SIK1c.2038G>C (p.Ala680Pro)
c.1891G>C (p.Ala631Pro)
21g.43417056C>TCA410606776SIK1c.2038G>A (p.Ala680Thr)
c.1891G>A (p.Ala631Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417057C=CA2391216306SIK1c.2037G= (p.Pro679=)
c.1890G= (p.Pro630=)
21g.43417057C>TCA321324519SIK1c.2037G>A (p.Pro679=)
c.1890G>A (p.Pro630=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417058G>ACA321324521SIK1c.2036C>T (p.Pro679Leu)
c.1889C>T (p.Pro630Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.43417058G>CCA410606778SIK1c.2036C>G (p.Pro679Arg)
c.1889C>G (p.Pro630Arg)
21g.43417058G=CA2391216307SIK1c.2036C= (p.Pro679=)
c.1889C= (p.Pro630=)
21g.43417058G>TCA410606779SIK1c.2036C>A (p.Pro679Gln)
c.1889C>A (p.Pro630Gln)
 gnomAD v4
21g.43417059G>ACA410606780SIK1c.2035C>T (p.Pro679Ser)
c.1888C>T (p.Pro630Ser)
21g.43417059G>CCA410606781SIK1c.2035C>G (p.Pro679Ala)
c.1888C>G (p.Pro630Ala)
21g.43417059G>TCA410606782SIK1c.2035C>A (p.Pro679Thr)
c.1888C>A (p.Pro630Thr)
 COSMIC
21g.43417060C>ACA321324524SIK1c.2034G>T (p.Gln678His)
c.1887G>T (p.Gln629His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417060C=CA2391216308SIK1c.2034G= (p.Gln678=)
c.1887G= (p.Gln629=)
21g.43417060C>GCA410606783SIK1c.2034G>C (p.Gln678His)
c.1887G>C (p.Gln629His)
21g.43417061T>ACA410606784SIK1c.2033A>T (p.Gln678Leu)
c.1886A>T (p.Gln629Leu)
21g.43417061T>CCA410606785SIK1c.2033A>G (p.Gln678Arg)
c.1886A>G (p.Gln629Arg)
21g.43417061T>GCA321324527SIK1c.2033A>C (p.Gln678Pro)
c.1886A>C (p.Gln629Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417061T=CA2391216310SIK1c.2033A= (p.Gln678=)
c.1886A= (p.Gln629=)
21g.43417061_43417062delinsTGCA2391216309SIK1c.2032_2033delinsCA (p.Gln678=)
c.1885_1886delinsCA (p.Gln629=)
21g.43417062G>ACA410606786SIK1c.2032C>T (p.Gln678Ter)
c.1885C>T (p.Gln629Ter)
21g.43417062G>CCA410606787SIK1c.2032C>G (p.Gln678Glu)
c.1885C>G (p.Gln629Glu)
21g.43417062G>TCA410606788SIK1c.2032C>A (p.Gln678Lys)
c.1885C>A (p.Gln629Lys)
21g.43417067delCA321324532SIK1c.2032del (p.Gln678SerfsTer8)
c.1885del (p.Gln629SerfsTer8)
 gnomAD v4
21g.43417064G>ACA410606789SIK1c.2030C>T (p.Pro677Leu)
c.1883C>T (p.Pro628Leu)
21g.43417064G>CCA410606791SIK1c.2030C>G (p.Pro677Arg)
c.1883C>G (p.Pro628Arg)
21g.43417064G>TCA410606790SIK1c.2030C>A (p.Pro677His)
c.1883C>A (p.Pro628His)
21g.43417065G>ACA410606792SIK1c.2029C>T (p.Pro677Ser)
c.1882C>T (p.Pro628Ser)
 COSMIC
21g.43417065G>CCA410606793SIK1c.2029C>G (p.Pro677Ala)
c.1882C>G (p.Pro628Ala)
21g.43417065G>TCA410606794SIK1c.2029C>A (p.Pro677Thr)
c.1882C>A (p.Pro628Thr)
21g.43417066G>ACA749585003SIK1c.2028C>T (p.Ala676=)
c.1881C>T (p.Ala627=)
 dbSNP
21g.43417066G=CA2391216311SIK1c.2028C= (p.Ala676=)
c.1881C= (p.Ala627=)
21g.43417067G>ACA410606795SIK1c.2027C>T (p.Ala676Val)
c.1880C>T (p.Ala627Val)
 dbSNP
21g.43417067G>CCA410606796SIK1c.2027C>G (p.Ala676Gly)
c.1880C>G (p.Ala627Gly)
21g.43417067G=CA2391216312SIK1c.2027C= (p.Ala676=)
c.1880C= (p.Ala627=)
21g.43417067G>TCA410606797SIK1c.2027C>A (p.Ala676Asp)
c.1880C>A (p.Ala627Asp)
21g.43417068C>ACA410606798SIK1c.2026G>T (p.Ala676Ser)
c.1879G>T (p.Ala627Ser)
21g.43417068C>GCA410606799SIK1c.2026G>C (p.Ala676Pro)
c.1879G>C (p.Ala627Pro)
21g.43417068C>TCA410606800SIK1c.2026G>A (p.Ala676Thr)
c.1879G>A (p.Ala627Thr)
 ClinVar
21g.43417069C>ACA410606801SIK1c.2025G>T (p.Gln675His)
c.1878G>T (p.Gln626His)
21g.43417069C>GCA410606802SIK1c.2025G>C (p.Gln675His)
c.1878G>C (p.Gln626His)
21g.43417070T>ACA410606804SIK1c.2024A>T (p.Gln675Leu)
c.1877A>T (p.Gln626Leu)
21g.43417070T>CCA410606805SIK1c.2024A>G (p.Gln675Arg)
c.1877A>G (p.Gln626Arg)
21g.43417070T>GCA410606803SIK1c.2024A>C (p.Gln675Pro)
c.1877A>C (p.Gln626Pro)
21g.43417071G>ACA410606807SIK1c.2023C>T (p.Gln675Ter)
c.1876C>T (p.Gln626Ter)
 dbSNP
21g.43417071G>CCA410606806SIK1c.2023C>G (p.Gln675Glu)
c.1876C>G (p.Gln626Glu)
 dbSNP
21g.43417071G>TCA410606808SIK1c.2023C>A (p.Gln675Lys)
c.1876C>A (p.Gln626Lys)
21g.43417072G>TCA2737820006SIK1c.2022C>A (p.Ser674=)
c.1875C>A (p.Ser625=)
 dbSNP
21g.43417073G>ACA410606809SIK1c.2021C>T (p.Ser674Phe)
c.1874C>T (p.Ser625Phe)
21g.43417073G>CCA410606811SIK1c.2021C>G (p.Ser674Cys)
c.1874C>G (p.Ser625Cys)
21g.43417073G=CA2391216313SIK1c.2021C= (p.Ser674=)
c.1874C= (p.Ser625=)
21g.43417073G>TCA410606810SIK1c.2021C>A (p.Ser674Tyr)
c.1874C>A (p.Ser625Tyr)
 dbSNP gnomAD v4
21g.43417074A>CCA410606812SIK1c.2020T>G (p.Ser674Ala)
c.1873T>G (p.Ser625Ala)
21g.43417074A>GCA410606813SIK1c.2020T>C (p.Ser674Pro)
c.1873T>C (p.Ser625Pro)
21g.43417074A>TCA410606814SIK1c.2020T>A (p.Ser674Thr)
c.1873T>A (p.Ser625Thr)
21g.43417074_43417084delinsAGCAGCCGGGTCA2391216314SIK1c.2010_2020delinsACCCGGCTGCT (p.Ala670=)
c.1863_1873delinsACCCGGCTGCT (p.Ala621=)
21g.43417075G>ACA749585012SIK1c.2019C>T (p.Cys673=)
c.1872C>T (p.Cys624=)
 dbSNP
21g.43417075G>CCA410606815SIK1c.2019C>G (p.Cys673Trp)
c.1872C>G (p.Cys624Trp)
21g.43417075G=CA2391216315SIK1c.2019C= (p.Cys673=)
c.1872C= (p.Cys624=)
21g.43417075G>TCA410606816SIK1c.2019C>A (p.Cys673Ter)
c.1872C>A (p.Cys624Ter)
21g.43417080_43417089delCA749585011SIK1c.2010_2019del (p.Gly672ArgfsTer11)
c.1863_1872del (p.Gly623ArgfsTer11)
 dbSNP
21g.43417076C>ACA410606817SIK1c.2018G>T (p.Cys673Phe)
c.1871G>T (p.Cys624Phe)
21g.43417076C>GCA410606818SIK1c.2018G>C (p.Cys673Ser)
c.1871G>C (p.Cys624Ser)
21g.43417076C>TCA410606819SIK1c.2018G>A (p.Cys673Tyr)
c.1871G>A (p.Cys624Tyr)
21g.43417077A>CCA410606820SIK1c.2017T>G (p.Cys673Gly)
c.1870T>G (p.Cys624Gly)
21g.43417077A>GCA410606821SIK1c.2017T>C (p.Cys673Arg)
c.1870T>C (p.Cys624Arg)
21g.43417077A>TCA410606822SIK1c.2017T>A (p.Cys673Ser)
c.1870T>A (p.Cys624Ser)
21g.43417077_43417090delinsAGCCGGGTGCAGCGCA2391216316SIK1c.2004_2017delinsCGCTGCACCCGGCT (p.Ala668=)
c.1857_1870delinsCGCTGCACCCGGCT (p.Ala619=)
21g.43417078G>CCA321324533SIK1c.2016C>G (p.Gly672=)
c.1869C>G (p.Gly623=)
 ClinVar dbSNP
21g.43417078G=CA2391216317SIK1c.2016C= (p.Gly672=)
c.1869C= (p.Gly623=)
21g.43417086_43417098delCA1139666890SIK1c.2004_2016del (p.Ala670ProfsTer12)
c.1857_1869del (p.Ala621ProfsTer12)
 ClinVar dbSNP
21g.43417079C>ACA410606825SIK1c.2015G>T (p.Gly672Val)
c.1868G>T (p.Gly623Val)
 dbSNP
21g.43417079C=CA2391216318SIK1c.2015G= (p.Gly672=)
c.1868G= (p.Gly623=)
21g.43417079C>GCA410606823SIK1c.2015G>C (p.Gly672Ala)
c.1868G>C (p.Gly623Ala)
21g.43417079C>TCA410606824SIK1c.2015G>A (p.Gly672Asp)
c.1868G>A (p.Gly623Asp)
21g.43417080C>ACA410606826SIK1c.2014G>T (p.Gly672Cys)
c.1867G>T (p.Gly623Cys)
21g.43417080C=CA2391216319SIK1c.2014G= (p.Gly672=)
c.1867G= (p.Gly623=)
21g.43417080C>GCA410606827SIK1c.2014G>C (p.Gly672Arg)
c.1867G>C (p.Gly623Arg)
 ClinVar dbSNP
21g.43417080C>TCA321324536SIK1c.2014G>A (p.Gly672Ser)
c.1867G>A (p.Gly623Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417081G>ACA321324538SIK1c.2013C>T (p.Pro671=)
c.1866C>T (p.Pro622=)
 ClinVar dbSNP
21g.43417081G>CCA2499225951SIK1c.2013C>G (p.Pro671=)
c.1866C>G (p.Pro622=)
 ClinVar dbSNP
21g.43417081G=CA2391216320SIK1c.2013C= (p.Pro671=)
c.1866C= (p.Pro622=)
21g.43417081G>TCA321324537SIK1c.2013C>A (p.Pro671=)
c.1866C>A (p.Pro622=)
 ClinVar dbSNP
21g.43417083delCA1022641531SIK1c.2013del (p.Gly672AlafsTer14)
c.1866del (p.Gly623AlafsTer14)
 gnomAD v3 gnomAD v4
21g.43417082G>ACA321324539SIK1c.2012C>T (p.Pro671Leu)
c.1865C>T (p.Pro622Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417082G>CCA410606828SIK1c.2012C>G (p.Pro671Arg)
c.1865C>G (p.Pro622Arg)
21g.43417082G=CA2391216321SIK1c.2012C= (p.Pro671=)
c.1865C= (p.Pro622=)
21g.43417082G>TCA410606829SIK1c.2012C>A (p.Pro671His)
c.1865C>A (p.Pro622His)
21g.43417083G>ACA410606830SIK1c.2011C>T (p.Pro671Ser)
c.1864C>T (p.Pro622Ser)
 ClinVar dbSNP
21g.43417083G>CCA410606831SIK1c.2011C>G (p.Pro671Ala)
c.1864C>G (p.Pro622Ala)
21g.43417083G=CA2391216322SIK1c.2011C= (p.Pro671=)
c.1864C= (p.Pro622=)
21g.43417083G>TCA410606832SIK1c.2011C>A (p.Pro671Thr)
c.1864C>A (p.Pro622Thr)
21g.43417085G>ACA410606835SIK1c.2009C>T (p.Ala670Val)
c.1862C>T (p.Ala621Val)
21g.43417085G>CCA410606834SIK1c.2009C>G (p.Ala670Gly)
c.1862C>G (p.Ala621Gly)
21g.43417085G>TCA410606833SIK1c.2009C>A (p.Ala670Glu)
c.1862C>A (p.Ala621Glu)
21g.43417086C>ACA410606836SIK1c.2008G>T (p.Ala670Ser)
c.1861G>T (p.Ala621Ser)
21g.43417086C>GCA410606837SIK1c.2008G>C (p.Ala670Pro)
c.1861G>C (p.Ala621Pro)
21g.43417086C>TCA410606838SIK1c.2008G>A (p.Ala670Thr)
c.1861G>A (p.Ala621Thr)
 gnomAD v4
21g.43417088G>ACA410606839SIK1c.2006C>T (p.Ala669Val)
c.1859C>T (p.Ala620Val)
 dbSNP
21g.43417088G>CCA410606840SIK1c.2006C>G (p.Ala669Gly)
c.1859C>G (p.Ala620Gly)
21g.43417088G=CA2391216323SIK1c.2006C= (p.Ala669=)
c.1859C= (p.Ala620=)
21g.43417088G>TCA410606841SIK1c.2006C>A (p.Ala669Asp)
c.1859C>A (p.Ala620Asp)
21g.43417089C>ACA410606842SIK1c.2005G>T (p.Ala669Ser)
c.1858G>T (p.Ala620Ser)
21g.43417089C=CA2391216324SIK1c.2005G= (p.Ala669=)
c.1858G= (p.Ala620=)
21g.43417089C>GCA410606843SIK1c.2005G>C (p.Ala669Pro)
c.1858G>C (p.Ala620Pro)
21g.43417089C>TCA321324540SIK1c.2005G>A (p.Ala669Thr)
c.1858G>A (p.Ala620Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417090G>ACA749585029SIK1c.2004C>T (p.Ala668=)
c.1857C>T (p.Ala619=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417090G=CA2391216325SIK1c.2004C= (p.Ala668=)
c.1857C= (p.Ala619=)
21g.43417091G>ACA410606844SIK1c.2003C>T (p.Ala668Val)
c.1856C>T (p.Ala619Val)
 gnomAD v4
21g.43417091G>CCA410606845SIK1c.2003C>G (p.Ala668Gly)
c.1856C>G (p.Ala619Gly)
21g.43417091G=CA2391216326SIK1c.2003C= (p.Ala668=)
c.1856C= (p.Ala619=)
21g.43417091G>TCA410606846SIK1c.2003C>A (p.Ala668Asp)
c.1856C>A (p.Ala619Asp)
 dbSNP
21g.43417092C>ACA321324543SIK1c.2002G>T (p.Ala668Ser)
c.1855G>T (p.Ala619Ser)
 dbSNP
21g.43417092C=CA2391216327SIK1c.2002G= (p.Ala668=)
c.1855G= (p.Ala619=)
21g.43417092C>GCA410606847SIK1c.2002G>C (p.Ala668Pro)
c.1855G>C (p.Ala619Pro)
21g.43417092C>TCA410606848SIK1c.2002G>A (p.Ala668Thr)
c.1855G>A (p.Ala619Thr)
21g.43417093C=CA2391216328SIK1c.2001G= (p.Pro667=)
c.1854G= (p.Pro618=)
21g.43417093C>TCA321324547SIK1c.2001G>A (p.Pro667=)
c.1854G>A (p.Pro618=)
 ClinVar dbSNP
21g.43417094G>ACA321324553SIK1c.2000C>T (p.Pro667Leu)
c.1853C>T (p.Pro618Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43417094G>CCA410606849SIK1c.2000C>G (p.Pro667Arg)
c.1853C>G (p.Pro618Arg)
21g.43417094G=CA2391216329SIK1c.2000C= (p.Pro667=)
c.1853C= (p.Pro618=)
21g.43417094G>TCA410606850SIK1c.2000C>A (p.Pro667Gln)
c.1853C>A (p.Pro618Gln)
21g.43417095G>ACA410606851SIK1c.1999C>T (p.Pro667Ser)
c.1852C>T (p.Pro618Ser)
21g.43417095G>CCA410606852SIK1c.1999C>G (p.Pro667Ala)
c.1852C>G (p.Pro618Ala)
 dbSNP
21g.43417095G=CA2391216330SIK1c.1999C= (p.Pro667=)
c.1852C= (p.Pro618=)
21g.43417095G>TCA321324556SIK1c.1999C>A (p.Pro667Thr)
c.1852C>A (p.Pro618Thr)
 ClinVar dbSNP
21g.43417096G>CCA410606853SIK1c.1998C>G (p.His666Gln)
c.1851C>G (p.His617Gln)
21g.43417096G>TCA410606854SIK1c.1998C>A (p.His666Gln)
c.1851C>A (p.His617Gln)
21g.43417097T>ACA410606855SIK1c.1997A>T (p.His666Leu)
c.1850A>T (p.His617Leu)
21g.43417097T>CCA410606856SIK1c.1997A>G (p.His666Arg)
c.1850A>G (p.His617Arg)
21g.43417097T>GCA410606857SIK1c.1997A>C (p.His666Pro)
c.1850A>C (p.His617Pro)
21g.43417098G>ACA410606859SIK1c.1996C>T (p.His666Tyr)
c.1849C>T (p.His617Tyr)
21g.43417098G>CCA410606860SIK1c.1996C>G (p.His666Asp)
c.1849C>G (p.His617Asp)
21g.43417098G>TCA410606858SIK1c.1996C>A (p.His666Asn)
c.1849C>A (p.His617Asn)
21g.43417099G>ACA749585049SIK1c.1995C>T (p.His665=)
c.1848C>T (p.His616=)
 dbSNP
21g.43417099G>CCA410606862SIK1c.1995C>G (p.His665Gln)
c.1848C>G (p.His616Gln)
21g.43417099G=CA2391216331SIK1c.1995C= (p.His665=)
c.1848C= (p.His616=)
21g.43417099G>TCA410606861SIK1c.1995C>A (p.His665Gln)
c.1848C>A (p.His616Gln)
21g.43417100T>ACA410606863SIK1c.1994A>T (p.His665Leu)
c.1847A>T (p.His616Leu)
21g.43417100T>CCA410606864SIK1c.1994A>G (p.His665Arg)
c.1847A>G (p.His616Arg)
 dbSNP
21g.43417100T>GCA410606865SIK1c.1994A>C (p.His665Pro)
c.1847A>C (p.His616Pro)
21g.43417100T=CA2391216332SIK1c.1994A= (p.His665=)
c.1847A= (p.His616=)
21g.43417101G>ACA410606866SIK1c.1993C>T (p.His665Tyr)
c.1846C>T (p.His616Tyr)
 gnomAD v4
21g.43417101G>CCA410606867SIK1c.1993C>G (p.His665Asp)
c.1846C>G (p.His616Asp)
21g.43417101G>TCA410606868SIK1c.1993C>A (p.His665Asn)
c.1846C>A (p.His616Asn)

Number of alleles fetched