Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.43416691T>CCA321324179SIK1c.*51A>G (n.*51A>G)
dbSNP
21g.43416691T=CA2391216158SIK1c.*51A= (n.*51A=)
21g.43416691_43416692delCA2654732706SIK1c.*50_*51del (n.*50_*51del)
gnomAD v4
21g.43416694A=CA2391216159SIK1c.*48T= (n.*48T=)
21g.43416694A>CCA321324181SIK1c.*48T>G (n.*48T>G)
dbSNP
21g.43416697T>CCA321324183SIK1c.*45A>G (n.*45A>G)
21g.43416697T>GCA2818014338SIK1c.*45A>C (n.*45A>C)
21g.43416697T=CA2391216160SIK1c.*45A= (n.*45A=)
21g.43416699T>CCA321324187SIK1c.*43A>G (n.*43A>G)
dbSNP gnomAD v3 gnomAD v4
21g.43416699T=CA2391216161SIK1c.*43A= (n.*43A=)
21g.43416700T>CCA321324190SIK1c.*42A>G (n.*42A>G)
dbSNP
21g.43416700T=CA2391216162SIK1c.*42A= (n.*42A=)
21g.43416701G>ACA749584579SIK1c.*41C>T (n.*41C>T)
dbSNP
21g.43416701G=CA2391216163SIK1c.*41C= (n.*41C=)
21g.43416702C=CA2391216164SIK1c.*40G= (n.*40G=)
21g.43416702C>TCA321324196SIK1c.*40G>A (n.*40G>A)
dbSNP
21g.43416704G>CCA749584584SIK1c.*38C>G (n.*38C>G)
dbSNP
21g.43416704G=CA2391216165SIK1c.*38C= (n.*38C=)
21g.43416705T>GCA2818014339SIK1c.*37A>C (n.*37A>C)
21g.43416707A>CCA2818014340SIK1c.*35T>G (n.*35T>G)
21g.43416708G>ACA2391216167SIK1c.*34C>T (n.*34C>T)
dbSNP
21g.43416708G>CCA2391216168SIK1c.*34C>G (n.*34C>G)
dbSNP
21g.43416708G=CA2391216166SIK1c.*34C= (n.*34C=)
21g.43416708G>TCA321324202SIK1c.*34C>A (n.*34C>A)
dbSNP
21g.43416714G>ACA321324204SIK1c.*28C>T (n.*28C>T)
dbSNP
21g.43416714G=CA2391216169SIK1c.*28C= (n.*28C=)
21g.43416715T>CCA321324206SIK1c.*27A>G (n.*27A>G)
dbSNP
21g.43416715T=CA2391216170SIK1c.*27A= (n.*27A=)
21g.43416716G>ACA749584588SIK1c.*26C>T (n.*26C>T)
dbSNP
21g.43416716G=CA2391216171SIK1c.*26C= (n.*26C=)
21g.43416717T>GCA2818014342SIK1c.*25A>C (n.*25A>C)
21g.43416718C>ACA2391216173SIK1c.*24G>T (n.*24G>T)
dbSNP gnomAD v4
21g.43416718C=CA2391216172SIK1c.*24G= (n.*24G=)
21g.43416718C>GCA2654732707SIK1c.*24G>C (n.*24G>C)
gnomAD v4
21g.43416719C=CA2391216174SIK1c.*23G= (n.*23G=)
21g.43416719C>TCA321324211SIK1c.*23G>A (n.*23G>A)
dbSNP
21g.43416720G>ACA321324212SIK1c.*22C>T (n.*22C>T)
dbSNP
21g.43416720G=CA2391216175SIK1c.*22C= (n.*22C=)
21g.43416721T>CCA2737819841SIK1c.*21A>G (n.*21A>G)
dbSNP
21g.43416724C=CA2391216176SIK1c.*18G= (n.*18G=)
21g.43416724C>TCA321324215SIK1c.*18G>A (n.*18G>A)
gnomAD v3 gnomAD v4
21g.43416729T>CCA321324223SIK1c.*13A>G (n.*13A>G)
dbSNP
21g.43416729T>GCA2818014345SIK1c.*13A>C (n.*13A>C)
21g.43416729T=CA2391216177SIK1c.*13A= (n.*13A=)
21g.43416731C>ACA2573129981SIK1c.*11G>T (n.*11G>T)
21g.43416733_43416734insTCA657665510SIK1c.*8_*9insA (n.*8_*9insA)
COSMIC
21g.43416735G>ACA321324226SIK1c.*7C>T (n.*7C>T)
dbSNP gnomAD v3 gnomAD v4
21g.43416735G=CA2391216178SIK1c.*7C= (n.*7C=)
21g.43416738G>ACA2391216180SIK1c.*4C>T (n.*4C>T)
dbSNP
21g.43416738G=CA2391216179SIK1c.*4C= (n.*4C=)
21g.43416740C=CA2391216181SIK1c.*2G= (n.*2G=)
21g.43416740C>TCA321324227SIK1c.*2G>A (n.*2G>A)
dbSNP gnomAD v3 gnomAD v4
21g.43416742T>ACA410606150SIK1c.2352A>T (p.Ter784Cys)
c.2205A>T (p.Ter735Cys)
21g.43416742T>CCA410606151SIK1c.2352A>G (p.Ter784Trp)
c.2205A>G (p.Ter735Trp)
21g.43416742T>GCA410606152SIK1c.2352A>C (p.Ter784Cys)
c.2205A>C (p.Ter735Cys)
21g.43416743C>ACA410606153SIK1c.2351G>T (p.Ter784Leu)
c.2204G>T (p.Ter735Leu)
21g.43416743C>GCA410606154SIK1c.2351G>C (p.Ter784Ser)
c.2204G>C (p.Ter735Ser)
21g.43416744A>CCA410606155SIK1c.2350T>G (p.Ter784Gly)
c.2203T>G (p.Ter735Gly)
21g.43416744A>GCA410606156SIK1c.2350T>C (p.Ter784Arg)
c.2203T>C (p.Ter735Arg)
21g.43416744A>TCA410606157SIK1c.2350T>A (p.Ter784Arg)
c.2203T>A (p.Ter735Arg)
21g.43416745C>ACA410606158SIK1c.2349G>T (p.Gln783His)
c.2202G>T (p.Gln734His)
21g.43416745C>GCA410606159SIK1c.2349G>C (p.Gln783His)
c.2202G>C (p.Gln734His)
21g.43416745C>TCA2573129982SIK1c.2349G>A (p.Gln783=)
c.2202G>A (p.Gln734=)
21g.43416746T>ACA410606160SIK1c.2348A>T (p.Gln783Leu)
c.2201A>T (p.Gln734Leu)
21g.43416746T>CCA410606162SIK1c.2348A>G (p.Gln783Arg)
c.2201A>G (p.Gln734Arg)
21g.43416746T>GCA410606161SIK1c.2348A>C (p.Gln783Pro)
c.2201A>C (p.Gln734Pro)
21g.43416747G>ACA410606163SIK1c.2347C>T (p.Gln783Ter)
c.2200C>T (p.Gln734Ter)
21g.43416747G>CCA410606164SIK1c.2347C>G (p.Gln783Glu)
c.2200C>G (p.Gln734Glu)
21g.43416747G>TCA410606165SIK1c.2347C>A (p.Gln783Lys)
c.2200C>A (p.Gln734Lys)
21g.43416749A=CA2391216182SIK1c.2345T= (p.Val782=)
c.2198T= (p.Val733=)
21g.43416749A>CCA410606166SIK1c.2345T>G (p.Val782Gly)
c.2198T>G (p.Val733Gly)
21g.43416749A>GCA410606167SIK1c.2345T>C (p.Val782Ala)
c.2198T>C (p.Val733Ala)
21g.43416749A>TCA321324228SIK1c.2345T>A (p.Val782Glu)
c.2198T>A (p.Val733Glu)
dbSNP
21g.43416750C>ACA410606168SIK1c.2344G>T (p.Val782Leu)
c.2197G>T (p.Val733Leu)
21g.43416750C>GCA410606169SIK1c.2344G>C (p.Val782Leu)
c.2197G>C (p.Val733Leu)
21g.43416750C>TCA410606170SIK1c.2344G>A (p.Val782Met)
c.2197G>A (p.Val733Met)
21g.43416752A>CCA410606171SIK1c.2342T>G (p.Leu781Arg)
c.2195T>G (p.Leu732Arg)
21g.43416752A>GCA410606172SIK1c.2342T>C (p.Leu781Pro)
c.2195T>C (p.Leu732Pro)
21g.43416752A>TCA410606173SIK1c.2342T>A (p.Leu781Gln)
c.2195T>A (p.Leu732Gln)
21g.43416753G>CCA410606174SIK1c.2341C>G (p.Leu781Val)
c.2194C>G (p.Leu732Val)
COSMIC
21g.43416753G>TCA410606175SIK1c.2341C>A (p.Leu781Met)
c.2194C>A (p.Leu732Met)
21g.43416754G>ACA2573157445SIK1c.2340C>T (p.Val780=)
c.2193C>T (p.Val731=)
ClinVar dbSNP
21g.43416755A>CCA410606176SIK1c.2339T>G (p.Val780Gly)
c.2192T>G (p.Val731Gly)
21g.43416755A>GCA410606178SIK1c.2339T>C (p.Val780Ala)
c.2192T>C (p.Val731Ala)
21g.43416755A>TCA410606177SIK1c.2339T>A (p.Val780Asp)
c.2192T>A (p.Val731Asp)
21g.43416756C>ACA410606179SIK1c.2338G>T (p.Val780Phe)
c.2191G>T (p.Val731Phe)
21g.43416756C=CA2391216183SIK1c.2338G= (p.Val780=)
c.2191G= (p.Val731=)
21g.43416756C>GCA410606180SIK1c.2338G>C (p.Val780Leu)
c.2191G>C (p.Val731Leu)
21g.43416756C>TCA410606181SIK1c.2338G>A (p.Val780Ile)
c.2191G>A (p.Val731Ile)
dbSNP
21g.43416757A>CCA410606182SIK1c.2337T>G (p.Phe779Leu)
c.2190T>G (p.Phe730Leu)
21g.43416757A>TCA410606183SIK1c.2337T>A (p.Phe779Leu)
c.2190T>A (p.Phe730Leu)
21g.43416758A>CCA410606184SIK1c.2336T>G (p.Phe779Cys)
c.2189T>G (p.Phe730Cys)
gnomAD v4
21g.43416758A>GCA410606185SIK1c.2336T>C (p.Phe779Ser)
c.2189T>C (p.Phe730Ser)
21g.43416758A>TCA410606186SIK1c.2336T>A (p.Phe779Tyr)
c.2189T>A (p.Phe730Tyr)
21g.43416759A>CCA410606187SIK1c.2335T>G (p.Phe779Val)
c.2188T>G (p.Phe730Val)
gnomAD v4
21g.43416759A>GCA410606188SIK1c.2335T>C (p.Phe779Leu)
c.2188T>C (p.Phe730Leu)
21g.43416759A>TCA410606189SIK1c.2335T>A (p.Phe779Ile)
c.2188T>A (p.Phe730Ile)
21g.43416760C>ACA749584618SIK1c.2334G>T (p.Thr778=)
c.2187G>T (p.Thr729=)
dbSNP
21g.43416760C=CA2391216184SIK1c.2334G= (p.Thr778=)
c.2187G= (p.Thr729=)
21g.43416760C>TCA321324229SIK1c.2334G>A (p.Thr778=)
c.2187G>A (p.Thr729=)
ClinVar dbSNP
21g.43416761G>ACA410606192SIK1c.2333C>T (p.Thr778Met)
c.2186C>T (p.Thr729Met)
ClinVar dbSNP gnomAD v4
21g.43416761G>CCA410606190SIK1c.2333C>G (p.Thr778Arg)
c.2186C>G (p.Thr729Arg)
21g.43416761G=CA2391216185SIK1c.2333C= (p.Thr778=)
c.2186C= (p.Thr729=)
21g.43416761G>TCA410606191SIK1c.2333C>A (p.Thr778Lys)
c.2186C>A (p.Thr729Lys)
21g.43416762T>ACA410606193SIK1c.2332A>T (p.Thr778Ser)
c.2185A>T (p.Thr729Ser)
21g.43416762T>CCA410606194SIK1c.2332A>G (p.Thr778Ala)
c.2185A>G (p.Thr729Ala)
21g.43416762T>GCA410606195SIK1c.2332A>C (p.Thr778Pro)
c.2185A>C (p.Thr729Pro)
21g.43416764C>ACA410606196SIK1c.2330G>T (p.Gly777Val)
c.2183G>T (p.Gly728Val)
21g.43416764C>GCA410606197SIK1c.2330G>C (p.Gly777Ala)
c.2183G>C (p.Gly728Ala)
21g.43416764C>TCA410606198SIK1c.2330G>A (p.Gly777Asp)
c.2183G>A (p.Gly728Asp)
21g.43416765C>ACA410606199SIK1c.2329G>T (p.Gly777Cys)
c.2182G>T (p.Gly728Cys)
21g.43416765C>GCA410606200SIK1c.2329G>C (p.Gly777Arg)
c.2182G>C (p.Gly728Arg)
21g.43416765C>TCA410606201SIK1c.2329G>A (p.Gly777Ser)
c.2182G>A (p.Gly728Ser)
21g.43416767A>CCA410606202SIK1c.2327T>G (p.Leu776Arg)
c.2180T>G (p.Leu727Arg)
21g.43416767A>GCA410606203SIK1c.2327T>C (p.Leu776Pro)
c.2180T>C (p.Leu727Pro)
21g.43416767A>TCA410606204SIK1c.2327T>A (p.Leu776Gln)
c.2180T>A (p.Leu727Gln)
21g.43416768G>CCA410606206SIK1c.2326C>G (p.Leu776Val)
c.2179C>G (p.Leu727Val)
21g.43416768G>TCA410606205SIK1c.2326C>A (p.Leu776Ile)
c.2179C>A (p.Leu727Ile)
21g.43416770G>ACA410606207SIK1c.2324C>T (p.Ser775Phe)
c.2177C>T (p.Ser726Phe)
21g.43416770G>CCA410606209SIK1c.2324C>G (p.Ser775Cys)
c.2177C>G (p.Ser726Cys)
21g.43416770G>TCA410606208SIK1c.2324C>A (p.Ser775Tyr)
c.2177C>A (p.Ser726Tyr)
21g.43416771A>CCA410606210SIK1c.2323T>G (p.Ser775Ala)
c.2176T>G (p.Ser726Ala)
21g.43416771A>GCA410606211SIK1c.2323T>C (p.Ser775Pro)
c.2176T>C (p.Ser726Pro)
21g.43416771A>TCA410606212SIK1c.2323T>A (p.Ser775Thr)
c.2176T>A (p.Ser726Thr)
21g.43416772G>CCA410606213SIK1c.2322C>G (p.Cys774Trp)
c.2175C>G (p.Cys725Trp)
21g.43416772G>TCA410606214SIK1c.2322C>A (p.Cys774Ter)
c.2175C>A (p.Cys725Ter)
21g.43416773C>ACA410606215SIK1c.2321G>T (p.Cys774Phe)
c.2174G>T (p.Cys725Phe)
21g.43416773C>GCA410606216SIK1c.2321G>C (p.Cys774Ser)
c.2174G>C (p.Cys725Ser)
ClinVar dbSNP
21g.43416773C>TCA410606217SIK1c.2321G>A (p.Cys774Tyr)
c.2174G>A (p.Cys725Tyr)
21g.43416774A=CA2391216186SIK1c.2320T= (p.Cys774=)
c.2173T= (p.Cys725=)
21g.43416774A>CCA321324230SIK1c.2320T>G (p.Cys774Gly)
c.2173T>G (p.Cys725Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.43416774A>GCA410606218SIK1c.2320T>C (p.Cys774Arg)
c.2173T>C (p.Cys725Arg)
ClinVar dbSNP
21g.43416774A>TCA410606219SIK1c.2320T>A (p.Cys774Ser)
c.2173T>A (p.Cys725Ser)
21g.43416776G>ACA410606222SIK1c.2318C>T (p.Pro773Leu)
c.2171C>T (p.Pro724Leu)
21g.43416776G>CCA410606221SIK1c.2318C>G (p.Pro773Arg)
c.2171C>G (p.Pro724Arg)
21g.43416776G>TCA410606220SIK1c.2318C>A (p.Pro773His)
c.2171C>A (p.Pro724His)
21g.43416777G>ACA410606223SIK1c.2317C>T (p.Pro773Ser)
c.2170C>T (p.Pro724Ser)
dbSNP gnomAD v4
21g.43416777G>CCA321324233SIK1c.2317C>G (p.Pro773Ala)
c.2170C>G (p.Pro724Ala)
dbSNP
21g.43416777G=CA2391216187SIK1c.2317C= (p.Pro773=)
c.2170C= (p.Pro724=)
21g.43416777G>TCA410606224SIK1c.2317C>A (p.Pro773Thr)
c.2170C>A (p.Pro724Thr)
21g.43416778C>ACA410606225SIK1c.2316G>T (p.Met772Ile)
c.2169G>T (p.Met723Ile)
21g.43416778C=CA2391216188SIK1c.2316G= (p.Met772=)
c.2169G= (p.Met723=)
21g.43416778C>GCA410606226SIK1c.2316G>C (p.Met772Ile)
c.2169G>C (p.Met723Ile)
21g.43416778C>TCA410606227SIK1c.2316G>A (p.Met772Ile)
c.2169G>A (p.Met723Ile)
dbSNP gnomAD v4
21g.43416779A>CCA410606228SIK1c.2315T>G (p.Met772Arg)
c.2168T>G (p.Met723Arg)
21g.43416779A>GCA410606229SIK1c.2315T>C (p.Met772Thr)
c.2168T>C (p.Met723Thr)
21g.43416779A>TCA410606230SIK1c.2315T>A (p.Met772Lys)
c.2168T>A (p.Met723Lys)
21g.43416780T>ACA410606231SIK1c.2314A>T (p.Met772Leu)
c.2167A>T (p.Met723Leu)
21g.43416780T>CCA410606232SIK1c.2314A>G (p.Met772Val)
c.2167A>G (p.Met723Val)
21g.43416780T>GCA410606233SIK1c.2314A>C (p.Met772Leu)
c.2167A>C (p.Met723Leu)
21g.43416782A>CCA410606234SIK1c.2312T>G (p.Leu771Arg)
c.2165T>G (p.Leu722Arg)
21g.43416782A>GCA410606236SIK1c.2312T>C (p.Leu771Pro)
c.2165T>C (p.Leu722Pro)
21g.43416782A>TCA410606235SIK1c.2312T>A (p.Leu771Gln)
c.2165T>A (p.Leu722Gln)
21g.43416783G>ACA645601759SIK1c.2311C>T (p.Leu771=)
c.2164C>T (p.Leu722=)
ClinVar dbSNP COSMIC
21g.43416783G>CCA410606237SIK1c.2311C>G (p.Leu771Val)
c.2164C>G (p.Leu722Val)
21g.43416783G>TCA410606238SIK1c.2311C>A (p.Leu771Met)
c.2164C>A (p.Leu722Met)
21g.43416784G>CCA410606239SIK1c.2310C>G (p.Asp770Glu)
c.2163C>G (p.Asp721Glu)
21g.43416784G>TCA410606240SIK1c.2310C>A (p.Asp770Glu)
c.2163C>A (p.Asp721Glu)
21g.43416785T>ACA410606241SIK1c.2309A>T (p.Asp770Val)
c.2162A>T (p.Asp721Val)
21g.43416785T>CCA410606242SIK1c.2309A>G (p.Asp770Gly)
c.2162A>G (p.Asp721Gly)
21g.43416785T>GCA410606243SIK1c.2309A>C (p.Asp770Ala)
c.2162A>C (p.Asp721Ala)
21g.43416786C>ACA410606244SIK1c.2308G>T (p.Asp770Tyr)
c.2161G>T (p.Asp721Tyr)
21g.43416786C=CA2391216189SIK1c.2308G= (p.Asp770=)
c.2161G= (p.Asp721=)
21g.43416786C>GCA410606245SIK1c.2308G>C (p.Asp770His)
c.2161G>C (p.Asp721His)
21g.43416786C>TCA410606246SIK1c.2308G>A (p.Asp770Asn)
c.2161G>A (p.Asp721Asn)
dbSNP
21g.43416787C>ACA410606247SIK1c.2307G>T (p.Glu769Asp)
c.2160G>T (p.Glu720Asp)
21g.43416787C>GCA410606248SIK1c.2307G>C (p.Glu769Asp)
c.2160G>C (p.Glu720Asp)
21g.43416788T>ACA410606249SIK1c.2306A>T (p.Glu769Val)
c.2159A>T (p.Glu720Val)
21g.43416788T>CCA410606250SIK1c.2306A>G (p.Glu769Gly)
c.2159A>G (p.Glu720Gly)
21g.43416788T>GCA410606251SIK1c.2306A>C (p.Glu769Ala)
c.2159A>C (p.Glu720Ala)
21g.43416789C>ACA410606252SIK1c.2305G>T (p.Glu769Ter)
c.2158G>T (p.Glu720Ter)
21g.43416789C=CA2391216190SIK1c.2305G= (p.Glu769=)
c.2158G= (p.Glu720=)
21g.43416789C>GCA410606253SIK1c.2305G>C (p.Glu769Gln)
c.2158G>C (p.Glu720Gln)
21g.43416789C>TCA321324242SIK1c.2305G>A (p.Glu769Lys)
c.2158G>A (p.Glu720Lys)
ClinVar dbSNP COSMIC
21g.43416790C>ACA410606254SIK1c.2304G>T (p.Met768Ile)
c.2157G>T (p.Met719Ile)
21g.43416790C>GCA410606255SIK1c.2304G>C (p.Met768Ile)
c.2157G>C (p.Met719Ile)
21g.43416790C>TCA410606256SIK1c.2304G>A (p.Met768Ile)
c.2157G>A (p.Met719Ile)

Number of alleles fetched