| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43416685C= | CA2391216156 | SIK1 | c.*57G= (n.*57G=) | |
| 21 | g.43416685C>T | CA749584575 | SIK1 | c.*57G>A (n.*57G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416687C= | CA2391216157 | SIK1 | c.*55G= (n.*55G=) | |
| 21 | g.43416687C>T | CA321324176 | SIK1 | c.*55G>A (n.*55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416688C>T | CA2654732705 | SIK1 | c.*54G>A (n.*54G>A) | gnomAD v4 |
| 21 | g.43416691T>C | CA321324179 | SIK1 | c.*51A>G (n.*51A>G) | dbSNP |
| 21 | g.43416691T= | CA2391216158 | SIK1 | c.*51A= (n.*51A=) | |
| 21 | g.43416691_43416692del | CA2654732706 | SIK1 | c.*50_*51del (n.*50_*51del) | gnomAD v4 |
| 21 | g.43416694A= | CA2391216159 | SIK1 | c.*48T= (n.*48T=) | |
| 21 | g.43416694A>C | CA321324181 | SIK1 | c.*48T>G (n.*48T>G) | dbSNP |
| 21 | g.43416697T>C | CA321324183 | SIK1 | c.*45A>G (n.*45A>G) | |
| 21 | g.43416697T>G | CA2818014338 | SIK1 | c.*45A>C (n.*45A>C) | |
| 21 | g.43416697T= | CA2391216160 | SIK1 | c.*45A= (n.*45A=) | |
| 21 | g.43416699T>C | CA321324187 | SIK1 | c.*43A>G (n.*43A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416699T= | CA2391216161 | SIK1 | c.*43A= (n.*43A=) | |
| 21 | g.43416700T>C | CA321324190 | SIK1 | c.*42A>G (n.*42A>G) | dbSNP |
| 21 | g.43416700T= | CA2391216162 | SIK1 | c.*42A= (n.*42A=) | |
| 21 | g.43416701G>A | CA749584579 | SIK1 | c.*41C>T (n.*41C>T) | dbSNP |
| 21 | g.43416701G= | CA2391216163 | SIK1 | c.*41C= (n.*41C=) | |
| 21 | g.43416702C= | CA2391216164 | SIK1 | c.*40G= (n.*40G=) | |
| 21 | g.43416702C>T | CA321324196 | SIK1 | c.*40G>A (n.*40G>A) | dbSNP |
| 21 | g.43416704G>C | CA749584584 | SIK1 | c.*38C>G (n.*38C>G) | dbSNP |
| 21 | g.43416704G= | CA2391216165 | SIK1 | c.*38C= (n.*38C=) | |
| 21 | g.43416705T>G | CA2818014339 | SIK1 | c.*37A>C (n.*37A>C) | |
| 21 | g.43416707A>C | CA2818014340 | SIK1 | c.*35T>G (n.*35T>G) | |
| 21 | g.43416708G>A | CA2391216167 | SIK1 | c.*34C>T (n.*34C>T) | dbSNP |
| 21 | g.43416708G>C | CA2391216168 | SIK1 | c.*34C>G (n.*34C>G) | dbSNP |
| 21 | g.43416708G= | CA2391216166 | SIK1 | c.*34C= (n.*34C=) | |
| 21 | g.43416708G>T | CA321324202 | SIK1 | c.*34C>A (n.*34C>A) | dbSNP |
| 21 | g.43416714G>A | CA321324204 | SIK1 | c.*28C>T (n.*28C>T) | dbSNP |
| 21 | g.43416714G= | CA2391216169 | SIK1 | c.*28C= (n.*28C=) | |
| 21 | g.43416715T>C | CA321324206 | SIK1 | c.*27A>G (n.*27A>G) | dbSNP |
| 21 | g.43416715T= | CA2391216170 | SIK1 | c.*27A= (n.*27A=) | |
| 21 | g.43416716G>A | CA749584588 | SIK1 | c.*26C>T (n.*26C>T) | dbSNP |
| 21 | g.43416716G= | CA2391216171 | SIK1 | c.*26C= (n.*26C=) | |
| 21 | g.43416717T>G | CA2818014342 | SIK1 | c.*25A>C (n.*25A>C) | |
| 21 | g.43416718C>A | CA2391216173 | SIK1 | c.*24G>T (n.*24G>T) | dbSNP gnomAD v4 |
| 21 | g.43416718C= | CA2391216172 | SIK1 | c.*24G= (n.*24G=) | |
| 21 | g.43416718C>G | CA2654732707 | SIK1 | c.*24G>C (n.*24G>C) | gnomAD v4 |
| 21 | g.43416719C= | CA2391216174 | SIK1 | c.*23G= (n.*23G=) | |
| 21 | g.43416719C>T | CA321324211 | SIK1 | c.*23G>A (n.*23G>A) | dbSNP |
| 21 | g.43416720G>A | CA321324212 | SIK1 | c.*22C>T (n.*22C>T) | dbSNP |
| 21 | g.43416720G= | CA2391216175 | SIK1 | c.*22C= (n.*22C=) | |
| 21 | g.43416721T>C | CA2737819841 | SIK1 | c.*21A>G (n.*21A>G) | dbSNP |
| 21 | g.43416724C= | CA2391216176 | SIK1 | c.*18G= (n.*18G=) | |
| 21 | g.43416724C>T | CA321324215 | SIK1 | c.*18G>A (n.*18G>A) | gnomAD v3 gnomAD v4 |
| 21 | g.43416729T>C | CA321324223 | SIK1 | c.*13A>G (n.*13A>G) | dbSNP |
| 21 | g.43416729T>G | CA2818014345 | SIK1 | c.*13A>C (n.*13A>C) | |
| 21 | g.43416729T= | CA2391216177 | SIK1 | c.*13A= (n.*13A=) | |
| 21 | g.43416731C>A | CA2573129981 | SIK1 | c.*11G>T (n.*11G>T) | |
| 21 | g.43416733_43416734insT | CA657665510 | SIK1 | c.*8_*9insA (n.*8_*9insA) | COSMIC |
| 21 | g.43416735G>A | CA321324226 | SIK1 | c.*7C>T (n.*7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416735G= | CA2391216178 | SIK1 | c.*7C= (n.*7C=) | |
| 21 | g.43416738G>A | CA2391216180 | SIK1 | c.*4C>T (n.*4C>T) | dbSNP |
| 21 | g.43416738G= | CA2391216179 | SIK1 | c.*4C= (n.*4C=) | |
| 21 | g.43416740C= | CA2391216181 | SIK1 | c.*2G= (n.*2G=) | |
| 21 | g.43416740C>T | CA321324227 | SIK1 | c.*2G>A (n.*2G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416742T>A | CA410606150 | SIK1 | c.2352A>T (p.Ter784Cys) c.2205A>T (p.Ter735Cys) | |
| 21 | g.43416742T>C | CA410606151 | SIK1 | c.2352A>G (p.Ter784Trp) c.2205A>G (p.Ter735Trp) | |
| 21 | g.43416742T>G | CA410606152 | SIK1 | c.2352A>C (p.Ter784Cys) c.2205A>C (p.Ter735Cys) | |
| 21 | g.43416743C>A | CA410606153 | SIK1 | c.2351G>T (p.Ter784Leu) c.2204G>T (p.Ter735Leu) | |
| 21 | g.43416743C>G | CA410606154 | SIK1 | c.2351G>C (p.Ter784Ser) c.2204G>C (p.Ter735Ser) | |
| 21 | g.43416744A>C | CA410606155 | SIK1 | c.2350T>G (p.Ter784Gly) c.2203T>G (p.Ter735Gly) | |
| 21 | g.43416744A>G | CA410606156 | SIK1 | c.2350T>C (p.Ter784Arg) c.2203T>C (p.Ter735Arg) | |
| 21 | g.43416744A>T | CA410606157 | SIK1 | c.2350T>A (p.Ter784Arg) c.2203T>A (p.Ter735Arg) | |
| 21 | g.43416745C>A | CA410606158 | SIK1 | c.2349G>T (p.Gln783His) c.2202G>T (p.Gln734His) | |
| 21 | g.43416745C>G | CA410606159 | SIK1 | c.2349G>C (p.Gln783His) c.2202G>C (p.Gln734His) | |
| 21 | g.43416745C>T | CA2573129982 | SIK1 | c.2349G>A (p.Gln783=) c.2202G>A (p.Gln734=) | |
| 21 | g.43416746T>A | CA410606160 | SIK1 | c.2348A>T (p.Gln783Leu) c.2201A>T (p.Gln734Leu) | |
| 21 | g.43416746T>C | CA410606162 | SIK1 | c.2348A>G (p.Gln783Arg) c.2201A>G (p.Gln734Arg) | |
| 21 | g.43416746T>G | CA410606161 | SIK1 | c.2348A>C (p.Gln783Pro) c.2201A>C (p.Gln734Pro) | |
| 21 | g.43416747G>A | CA410606163 | SIK1 | c.2347C>T (p.Gln783Ter) c.2200C>T (p.Gln734Ter) | |
| 21 | g.43416747G>C | CA410606164 | SIK1 | c.2347C>G (p.Gln783Glu) c.2200C>G (p.Gln734Glu) | |
| 21 | g.43416747G>T | CA410606165 | SIK1 | c.2347C>A (p.Gln783Lys) c.2200C>A (p.Gln734Lys) | |
| 21 | g.43416749A= | CA2391216182 | SIK1 | c.2345T= (p.Val782=) c.2198T= (p.Val733=) | |
| 21 | g.43416749A>C | CA410606166 | SIK1 | c.2345T>G (p.Val782Gly) c.2198T>G (p.Val733Gly) | |
| 21 | g.43416749A>G | CA410606167 | SIK1 | c.2345T>C (p.Val782Ala) c.2198T>C (p.Val733Ala) | |
| 21 | g.43416749A>T | CA321324228 | SIK1 | c.2345T>A (p.Val782Glu) c.2198T>A (p.Val733Glu) | dbSNP |
| 21 | g.43416750C>A | CA410606168 | SIK1 | c.2344G>T (p.Val782Leu) c.2197G>T (p.Val733Leu) | |
| 21 | g.43416750C>G | CA410606169 | SIK1 | c.2344G>C (p.Val782Leu) c.2197G>C (p.Val733Leu) | |
| 21 | g.43416750C>T | CA410606170 | SIK1 | c.2344G>A (p.Val782Met) c.2197G>A (p.Val733Met) | |
| 21 | g.43416752A>C | CA410606171 | SIK1 | c.2342T>G (p.Leu781Arg) c.2195T>G (p.Leu732Arg) | |
| 21 | g.43416752A>G | CA410606172 | SIK1 | c.2342T>C (p.Leu781Pro) c.2195T>C (p.Leu732Pro) | |
| 21 | g.43416752A>T | CA410606173 | SIK1 | c.2342T>A (p.Leu781Gln) c.2195T>A (p.Leu732Gln) | |
| 21 | g.43416753G>C | CA410606174 | SIK1 | c.2341C>G (p.Leu781Val) c.2194C>G (p.Leu732Val) | COSMIC |
| 21 | g.43416753G>T | CA410606175 | SIK1 | c.2341C>A (p.Leu781Met) c.2194C>A (p.Leu732Met) | |
| 21 | g.43416754G>A | CA2573157445 | SIK1 | c.2340C>T (p.Val780=) c.2193C>T (p.Val731=) | ClinVar dbSNP |
| 21 | g.43416755A>C | CA410606176 | SIK1 | c.2339T>G (p.Val780Gly) c.2192T>G (p.Val731Gly) | |
| 21 | g.43416755A>G | CA410606178 | SIK1 | c.2339T>C (p.Val780Ala) c.2192T>C (p.Val731Ala) | |
| 21 | g.43416755A>T | CA410606177 | SIK1 | c.2339T>A (p.Val780Asp) c.2192T>A (p.Val731Asp) | |
| 21 | g.43416756C>A | CA410606179 | SIK1 | c.2338G>T (p.Val780Phe) c.2191G>T (p.Val731Phe) | |
| 21 | g.43416756C= | CA2391216183 | SIK1 | c.2338G= (p.Val780=) c.2191G= (p.Val731=) | |
| 21 | g.43416756C>G | CA410606180 | SIK1 | c.2338G>C (p.Val780Leu) c.2191G>C (p.Val731Leu) | |
| 21 | g.43416756C>T | CA410606181 | SIK1 | c.2338G>A (p.Val780Ile) c.2191G>A (p.Val731Ile) | dbSNP |
| 21 | g.43416757A>C | CA410606182 | SIK1 | c.2337T>G (p.Phe779Leu) c.2190T>G (p.Phe730Leu) | |
| 21 | g.43416757A>T | CA410606183 | SIK1 | c.2337T>A (p.Phe779Leu) c.2190T>A (p.Phe730Leu) | |
| 21 | g.43416758A>C | CA410606184 | SIK1 | c.2336T>G (p.Phe779Cys) c.2189T>G (p.Phe730Cys) | gnomAD v4 |
| 21 | g.43416758A>G | CA410606185 | SIK1 | c.2336T>C (p.Phe779Ser) c.2189T>C (p.Phe730Ser) | |
| 21 | g.43416758A>T | CA410606186 | SIK1 | c.2336T>A (p.Phe779Tyr) c.2189T>A (p.Phe730Tyr) | |
| 21 | g.43416759A>C | CA410606187 | SIK1 | c.2335T>G (p.Phe779Val) c.2188T>G (p.Phe730Val) | gnomAD v4 |
| 21 | g.43416759A>G | CA410606188 | SIK1 | c.2335T>C (p.Phe779Leu) c.2188T>C (p.Phe730Leu) | |
| 21 | g.43416759A>T | CA410606189 | SIK1 | c.2335T>A (p.Phe779Ile) c.2188T>A (p.Phe730Ile) | |
| 21 | g.43416760C>A | CA749584618 | SIK1 | c.2334G>T (p.Thr778=) c.2187G>T (p.Thr729=) | dbSNP |
| 21 | g.43416760C= | CA2391216184 | SIK1 | c.2334G= (p.Thr778=) c.2187G= (p.Thr729=) | |
| 21 | g.43416760C>T | CA321324229 | SIK1 | c.2334G>A (p.Thr778=) c.2187G>A (p.Thr729=) | ClinVar dbSNP |
| 21 | g.43416761G>A | CA410606192 | SIK1 | c.2333C>T (p.Thr778Met) c.2186C>T (p.Thr729Met) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416761G>C | CA410606190 | SIK1 | c.2333C>G (p.Thr778Arg) c.2186C>G (p.Thr729Arg) | |
| 21 | g.43416761G= | CA2391216185 | SIK1 | c.2333C= (p.Thr778=) c.2186C= (p.Thr729=) | |
| 21 | g.43416761G>T | CA410606191 | SIK1 | c.2333C>A (p.Thr778Lys) c.2186C>A (p.Thr729Lys) | |
| 21 | g.43416762T>A | CA410606193 | SIK1 | c.2332A>T (p.Thr778Ser) c.2185A>T (p.Thr729Ser) | |
| 21 | g.43416762T>C | CA410606194 | SIK1 | c.2332A>G (p.Thr778Ala) c.2185A>G (p.Thr729Ala) | |
| 21 | g.43416762T>G | CA410606195 | SIK1 | c.2332A>C (p.Thr778Pro) c.2185A>C (p.Thr729Pro) | |
| 21 | g.43416764C>A | CA410606196 | SIK1 | c.2330G>T (p.Gly777Val) c.2183G>T (p.Gly728Val) | |
| 21 | g.43416764C>G | CA410606197 | SIK1 | c.2330G>C (p.Gly777Ala) c.2183G>C (p.Gly728Ala) | |
| 21 | g.43416764C>T | CA410606198 | SIK1 | c.2330G>A (p.Gly777Asp) c.2183G>A (p.Gly728Asp) | |
| 21 | g.43416765C>A | CA410606199 | SIK1 | c.2329G>T (p.Gly777Cys) c.2182G>T (p.Gly728Cys) | |
| 21 | g.43416765C>G | CA410606200 | SIK1 | c.2329G>C (p.Gly777Arg) c.2182G>C (p.Gly728Arg) | |
| 21 | g.43416765C>T | CA410606201 | SIK1 | c.2329G>A (p.Gly777Ser) c.2182G>A (p.Gly728Ser) | |
| 21 | g.43416767A>C | CA410606202 | SIK1 | c.2327T>G (p.Leu776Arg) c.2180T>G (p.Leu727Arg) | |
| 21 | g.43416767A>G | CA410606203 | SIK1 | c.2327T>C (p.Leu776Pro) c.2180T>C (p.Leu727Pro) | |
| 21 | g.43416767A>T | CA410606204 | SIK1 | c.2327T>A (p.Leu776Gln) c.2180T>A (p.Leu727Gln) | |
| 21 | g.43416768G>C | CA410606206 | SIK1 | c.2326C>G (p.Leu776Val) c.2179C>G (p.Leu727Val) | |
| 21 | g.43416768G>T | CA410606205 | SIK1 | c.2326C>A (p.Leu776Ile) c.2179C>A (p.Leu727Ile) | |
| 21 | g.43416770G>A | CA410606207 | SIK1 | c.2324C>T (p.Ser775Phe) c.2177C>T (p.Ser726Phe) | |
| 21 | g.43416770G>C | CA410606209 | SIK1 | c.2324C>G (p.Ser775Cys) c.2177C>G (p.Ser726Cys) | |
| 21 | g.43416770G>T | CA410606208 | SIK1 | c.2324C>A (p.Ser775Tyr) c.2177C>A (p.Ser726Tyr) | |
| 21 | g.43416771A>C | CA410606210 | SIK1 | c.2323T>G (p.Ser775Ala) c.2176T>G (p.Ser726Ala) | |
| 21 | g.43416771A>G | CA410606211 | SIK1 | c.2323T>C (p.Ser775Pro) c.2176T>C (p.Ser726Pro) | |
| 21 | g.43416771A>T | CA410606212 | SIK1 | c.2323T>A (p.Ser775Thr) c.2176T>A (p.Ser726Thr) | |
| 21 | g.43416772G>C | CA410606213 | SIK1 | c.2322C>G (p.Cys774Trp) c.2175C>G (p.Cys725Trp) | |
| 21 | g.43416772G>T | CA410606214 | SIK1 | c.2322C>A (p.Cys774Ter) c.2175C>A (p.Cys725Ter) | |
| 21 | g.43416773C>A | CA410606215 | SIK1 | c.2321G>T (p.Cys774Phe) c.2174G>T (p.Cys725Phe) | |
| 21 | g.43416773C>G | CA410606216 | SIK1 | c.2321G>C (p.Cys774Ser) c.2174G>C (p.Cys725Ser) | ClinVar dbSNP |
| 21 | g.43416773C>T | CA410606217 | SIK1 | c.2321G>A (p.Cys774Tyr) c.2174G>A (p.Cys725Tyr) | |
| 21 | g.43416774A= | CA2391216186 | SIK1 | c.2320T= (p.Cys774=) c.2173T= (p.Cys725=) | |
| 21 | g.43416774A>C | CA321324230 | SIK1 | c.2320T>G (p.Cys774Gly) c.2173T>G (p.Cys725Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416774A>G | CA410606218 | SIK1 | c.2320T>C (p.Cys774Arg) c.2173T>C (p.Cys725Arg) | ClinVar dbSNP |
| 21 | g.43416774A>T | CA410606219 | SIK1 | c.2320T>A (p.Cys774Ser) c.2173T>A (p.Cys725Ser) | |
| 21 | g.43416776G>A | CA410606222 | SIK1 | c.2318C>T (p.Pro773Leu) c.2171C>T (p.Pro724Leu) | |
| 21 | g.43416776G>C | CA410606221 | SIK1 | c.2318C>G (p.Pro773Arg) c.2171C>G (p.Pro724Arg) | |
| 21 | g.43416776G>T | CA410606220 | SIK1 | c.2318C>A (p.Pro773His) c.2171C>A (p.Pro724His) |