Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
21 | g.43416777G>A | CA410606223 | SIK1 | c.2317C>T (p.Pro773Ser) c.2170C>T (p.Pro724Ser) | dbSNP gnomAD v4 |
21 | g.43416777G>C | CA321324233 | SIK1 | c.2317C>G (p.Pro773Ala) c.2170C>G (p.Pro724Ala) | dbSNP |
21 | g.43416777G= | CA2391216187 | SIK1 | c.2317C= (p.Pro773=) c.2170C= (p.Pro724=) | |
21 | g.43416777G>T | CA410606224 | SIK1 | c.2317C>A (p.Pro773Thr) c.2170C>A (p.Pro724Thr) | |
21 | g.43416778C>A | CA410606225 | SIK1 | c.2316G>T (p.Met772Ile) c.2169G>T (p.Met723Ile) | |
21 | g.43416778C= | CA2391216188 | SIK1 | c.2316G= (p.Met772=) c.2169G= (p.Met723=) | |
21 | g.43416778C>G | CA410606226 | SIK1 | c.2316G>C (p.Met772Ile) c.2169G>C (p.Met723Ile) | |
21 | g.43416778C>T | CA410606227 | SIK1 | c.2316G>A (p.Met772Ile) c.2169G>A (p.Met723Ile) | dbSNP gnomAD v4 |
21 | g.43416779A>C | CA410606228 | SIK1 | c.2315T>G (p.Met772Arg) c.2168T>G (p.Met723Arg) | |
21 | g.43416779A>G | CA410606229 | SIK1 | c.2315T>C (p.Met772Thr) c.2168T>C (p.Met723Thr) | |
21 | g.43416779A>T | CA410606230 | SIK1 | c.2315T>A (p.Met772Lys) c.2168T>A (p.Met723Lys) | |
21 | g.43416780T>A | CA410606231 | SIK1 | c.2314A>T (p.Met772Leu) c.2167A>T (p.Met723Leu) | |
21 | g.43416780T>C | CA410606232 | SIK1 | c.2314A>G (p.Met772Val) c.2167A>G (p.Met723Val) | |
21 | g.43416780T>G | CA410606233 | SIK1 | c.2314A>C (p.Met772Leu) c.2167A>C (p.Met723Leu) | |
21 | g.43416782A>C | CA410606234 | SIK1 | c.2312T>G (p.Leu771Arg) c.2165T>G (p.Leu722Arg) | |
21 | g.43416782A>G | CA410606236 | SIK1 | c.2312T>C (p.Leu771Pro) c.2165T>C (p.Leu722Pro) | |
21 | g.43416782A>T | CA410606235 | SIK1 | c.2312T>A (p.Leu771Gln) c.2165T>A (p.Leu722Gln) | |
21 | g.43416783G>A | CA645601759 | SIK1 | c.2311C>T (p.Leu771=) c.2164C>T (p.Leu722=) | ClinVar dbSNP COSMIC |
21 | g.43416783G>C | CA410606237 | SIK1 | c.2311C>G (p.Leu771Val) c.2164C>G (p.Leu722Val) | |
21 | g.43416783G>T | CA410606238 | SIK1 | c.2311C>A (p.Leu771Met) c.2164C>A (p.Leu722Met) | |
21 | g.43416784G>C | CA410606239 | SIK1 | c.2310C>G (p.Asp770Glu) c.2163C>G (p.Asp721Glu) | |
21 | g.43416784G>T | CA410606240 | SIK1 | c.2310C>A (p.Asp770Glu) c.2163C>A (p.Asp721Glu) | |
21 | g.43416785T>A | CA410606241 | SIK1 | c.2309A>T (p.Asp770Val) c.2162A>T (p.Asp721Val) | |
21 | g.43416785T>C | CA410606242 | SIK1 | c.2309A>G (p.Asp770Gly) c.2162A>G (p.Asp721Gly) | |
21 | g.43416785T>G | CA410606243 | SIK1 | c.2309A>C (p.Asp770Ala) c.2162A>C (p.Asp721Ala) | |
21 | g.43416786C>A | CA410606244 | SIK1 | c.2308G>T (p.Asp770Tyr) c.2161G>T (p.Asp721Tyr) | |
21 | g.43416786C= | CA2391216189 | SIK1 | c.2308G= (p.Asp770=) c.2161G= (p.Asp721=) | |
21 | g.43416786C>G | CA410606245 | SIK1 | c.2308G>C (p.Asp770His) c.2161G>C (p.Asp721His) | |
21 | g.43416786C>T | CA410606246 | SIK1 | c.2308G>A (p.Asp770Asn) c.2161G>A (p.Asp721Asn) | dbSNP |
21 | g.43416787C>A | CA410606247 | SIK1 | c.2307G>T (p.Glu769Asp) c.2160G>T (p.Glu720Asp) | |
21 | g.43416787C>G | CA410606248 | SIK1 | c.2307G>C (p.Glu769Asp) c.2160G>C (p.Glu720Asp) | |
21 | g.43416788T>A | CA410606249 | SIK1 | c.2306A>T (p.Glu769Val) c.2159A>T (p.Glu720Val) | |
21 | g.43416788T>C | CA410606250 | SIK1 | c.2306A>G (p.Glu769Gly) c.2159A>G (p.Glu720Gly) | |
21 | g.43416788T>G | CA410606251 | SIK1 | c.2306A>C (p.Glu769Ala) c.2159A>C (p.Glu720Ala) | |
21 | g.43416789C>A | CA410606252 | SIK1 | c.2305G>T (p.Glu769Ter) c.2158G>T (p.Glu720Ter) | |
21 | g.43416789C= | CA2391216190 | SIK1 | c.2305G= (p.Glu769=) c.2158G= (p.Glu720=) | |
21 | g.43416789C>G | CA410606253 | SIK1 | c.2305G>C (p.Glu769Gln) c.2158G>C (p.Glu720Gln) | |
21 | g.43416789C>T | CA321324242 | SIK1 | c.2305G>A (p.Glu769Lys) c.2158G>A (p.Glu720Lys) | ClinVar dbSNP COSMIC |
21 | g.43416790C>A | CA410606254 | SIK1 | c.2304G>T (p.Met768Ile) c.2157G>T (p.Met719Ile) | |
21 | g.43416790C>G | CA410606255 | SIK1 | c.2304G>C (p.Met768Ile) c.2157G>C (p.Met719Ile) | |
21 | g.43416790C>T | CA410606256 | SIK1 | c.2304G>A (p.Met768Ile) c.2157G>A (p.Met719Ile) | |
21 | g.43416791A>C | CA410606257 | SIK1 | c.2303T>G (p.Met768Arg) c.2156T>G (p.Met719Arg) | |
21 | g.43416791A>G | CA410606258 | SIK1 | c.2303T>C (p.Met768Thr) c.2156T>C (p.Met719Thr) | |
21 | g.43416791A>T | CA410606259 | SIK1 | c.2303T>A (p.Met768Lys) c.2156T>A (p.Met719Lys) | |
21 | g.43416792T>A | CA410606260 | SIK1 | c.2302A>T (p.Met768Leu) c.2155A>T (p.Met719Leu) | |
21 | g.43416792T>C | CA410606261 | SIK1 | c.2302A>G (p.Met768Val) c.2155A>G (p.Met719Val) | ClinVar |
21 | g.43416792T>G | CA410606262 | SIK1 | c.2302A>C (p.Met768Leu) c.2155A>C (p.Met719Leu) | |
21 | g.43416793C>A | CA410606263 | SIK1 | c.2301G>T (p.Glu767Asp) c.2154G>T (p.Glu718Asp) | |
21 | g.43416793C>G | CA410606264 | SIK1 | c.2301G>C (p.Glu767Asp) c.2154G>C (p.Glu718Asp) | |
21 | g.43416794T>A | CA410606267 | SIK1 | c.2300A>T (p.Glu767Val) c.2153A>T (p.Glu718Val) | |
21 | g.43416794T>C | CA410606266 | SIK1 | c.2300A>G (p.Glu767Gly) c.2153A>G (p.Glu718Gly) | |
21 | g.43416794T>G | CA410606265 | SIK1 | c.2300A>C (p.Glu767Ala) c.2153A>C (p.Glu718Ala) | |
21 | g.43416795C>A | CA410606270 | SIK1 | c.2299G>T (p.Glu767Ter) c.2152G>T (p.Glu718Ter) | |
21 | g.43416795C>G | CA410606268 | SIK1 | c.2299G>C (p.Glu767Gln) c.2152G>C (p.Glu718Gln) | |
21 | g.43416795C>T | CA410606269 | SIK1 | c.2299G>A (p.Glu767Lys) c.2152G>A (p.Glu718Lys) | |
21 | g.43416796A>C | CA410606271 | SIK1 | c.2298T>G (p.Cys766Trp) c.2151T>G (p.Cys717Trp) | gnomAD v4 |
21 | g.43416796A>T | CA410606272 | SIK1 | c.2298T>A (p.Cys766Ter) c.2151T>A (p.Cys717Ter) | |
21 | g.43416797C>A | CA410606273 | SIK1 | c.2297G>T (p.Cys766Phe) c.2150G>T (p.Cys717Phe) | |
21 | g.43416797C>G | CA410606274 | SIK1 | c.2297G>C (p.Cys766Ser) c.2150G>C (p.Cys717Ser) | |
21 | g.43416797C>T | CA410606275 | SIK1 | c.2297G>A (p.Cys766Tyr) c.2150G>A (p.Cys717Tyr) | |
21 | g.43416798A>C | CA410606276 | SIK1 | c.2296T>G (p.Cys766Gly) c.2149T>G (p.Cys717Gly) | gnomAD v4 |
21 | g.43416798A>G | CA410606277 | SIK1 | c.2296T>C (p.Cys766Arg) c.2149T>C (p.Cys717Arg) | |
21 | g.43416798A>T | CA410606278 | SIK1 | c.2296T>A (p.Cys766Ser) c.2149T>A (p.Cys717Ser) | |
21 | g.43416799G>A | CA645601760 | SIK1 | c.2295C>T (p.Asp765=) c.2148C>T (p.Asp716=) | COSMIC |
21 | g.43416799G>C | CA410606279 | SIK1 | c.2295C>G (p.Asp765Glu) c.2148C>G (p.Asp716Glu) | |
21 | g.43416799G>T | CA410606280 | SIK1 | c.2295C>A (p.Asp765Glu) c.2148C>A (p.Asp716Glu) | |
21 | g.43416800T>A | CA410606282 | SIK1 | c.2294A>T (p.Asp765Val) c.2147A>T (p.Asp716Val) | |
21 | g.43416800T>C | CA410606283 | SIK1 | c.2294A>G (p.Asp765Gly) c.2147A>G (p.Asp716Gly) | gnomAD v4 |
21 | g.43416800T>G | CA410606281 | SIK1 | c.2294A>C (p.Asp765Ala) c.2147A>C (p.Asp716Ala) | gnomAD v4 |
21 | g.43416801C>A | CA321324244 | SIK1 | c.2293G>T (p.Asp765Tyr) c.2146G>T (p.Asp716Tyr) | ClinVar dbSNP gnomAD v4 |
21 | g.43416801C= | CA2391216191 | SIK1 | c.2293G= (p.Asp765=) c.2146G= (p.Asp716=) | |
21 | g.43416801C>G | CA410606284 | SIK1 | c.2293G>C (p.Asp765His) c.2146G>C (p.Asp716His) | |
21 | g.43416801C>T | CA321324247 | SIK1 | c.2293G>A (p.Asp765Asn) c.2146G>A (p.Asp716Asn) | dbSNP |
21 | g.43416802C= | CA2391216192 | SIK1 | c.2292G= (p.Gly764=) c.2145G= (p.Gly715=) | |
21 | g.43416802C>T | CA749584666 | SIK1 | c.2292G>A (p.Gly764=) c.2145G>A (p.Gly715=) | dbSNP |
21 | g.43416803C>A | CA410606285 | SIK1 | c.2291G>T (p.Gly764Val) c.2144G>T (p.Gly715Val) | |
21 | g.43416803C= | CA2391216193 | SIK1 | c.2291G= (p.Gly764=) c.2144G= (p.Gly715=) | |
21 | g.43416803C>G | CA410606286 | SIK1 | c.2291G>C (p.Gly764Ala) c.2144G>C (p.Gly715Ala) | |
21 | g.43416803C>T | CA410606287 | SIK1 | c.2291G>A (p.Gly764Glu) c.2144G>A (p.Gly715Glu) | dbSNP |
21 | g.43416804C>A | CA410606288 | SIK1 | c.2290G>T (p.Gly764Trp) c.2143G>T (p.Gly715Trp) | |
21 | g.43416804C>G | CA410606290 | SIK1 | c.2290G>C (p.Gly764Arg) c.2143G>C (p.Gly715Arg) | |
21 | g.43416804C>T | CA410606289 | SIK1 | c.2290G>A (p.Gly764Arg) c.2143G>A (p.Gly715Arg) | |
21 | g.43416805C>A | CA410606291 | SIK1 | c.2289G>T (p.Gln763His) c.2142G>T (p.Gln714His) | |
21 | g.43416805C>G | CA410606292 | SIK1 | c.2289G>C (p.Gln763His) c.2142G>C (p.Gln714His) | |
21 | g.43416805C>T | CA2654732708 | SIK1 | c.2289G>A (p.Gln763=) c.2142G>A (p.Gln714=) | gnomAD v4 |
21 | g.43416806T>A | CA410606293 | SIK1 | c.2288A>T (p.Gln763Leu) c.2141A>T (p.Gln714Leu) | gnomAD v4 |
21 | g.43416806T>C | CA410606294 | SIK1 | c.2288A>G (p.Gln763Arg) c.2141A>G (p.Gln714Arg) | |
21 | g.43416806T>G | CA410606295 | SIK1 | c.2288A>C (p.Gln763Pro) c.2141A>C (p.Gln714Pro) | gnomAD v4 |
21 | g.43416807G>A | CA410606297 | SIK1 | c.2287C>T (p.Gln763Ter) c.2140C>T (p.Gln714Ter) | |
21 | g.43416807G>C | CA410606298 | SIK1 | c.2287C>G (p.Gln763Glu) c.2140C>G (p.Gln714Glu) | |
21 | g.43416807G>T | CA410606296 | SIK1 | c.2287C>A (p.Gln763Lys) c.2140C>A (p.Gln714Lys) | |
21 | g.43416808C>A | CA2847847594 | SIK1 | c.2286G>T (p.Leu762=) c.2139G>T (p.Leu713=) | |
21 | g.43416808C= | CA2391216194 | SIK1 | c.2286G= (p.Leu762=) c.2139G= (p.Leu713=) | |
21 | g.43416808C>T | CA749584676 | SIK1 | c.2286G>A (p.Leu762=) c.2139G>A (p.Leu713=) | dbSNP gnomAD v4 |
21 | g.43416809A>C | CA410606299 | SIK1 | c.2285T>G (p.Leu762Arg) c.2138T>G (p.Leu713Arg) | |
21 | g.43416809A>G | CA410606301 | SIK1 | c.2285T>C (p.Leu762Pro) c.2138T>C (p.Leu713Pro) | |
21 | g.43416809A>T | CA410606300 | SIK1 | c.2285T>A (p.Leu762Gln) c.2138T>A (p.Leu713Gln) | |
21 | g.43416810G>A | CA2818014358 | SIK1 | c.2284C>T (p.Leu762=) c.2137C>T (p.Leu713=) | |
21 | g.43416810G>C | CA410606302 | SIK1 | c.2284C>G (p.Leu762Val) c.2137C>G (p.Leu713Val) | |
21 | g.43416810G>T | CA410606303 | SIK1 | c.2284C>A (p.Leu762Met) c.2137C>A (p.Leu713Met) | |
21 | g.43416811C= | CA2391216195 | SIK1 | c.2283G= (p.Leu761=) c.2136G= (p.Leu712=) | |
21 | g.43416811C>T | CA321324250 | SIK1 | c.2283G>A (p.Leu761=) c.2136G>A (p.Leu712=) | dbSNP |
21 | g.43416812A>C | CA410606304 | SIK1 | c.2282T>G (p.Leu761Arg) c.2135T>G (p.Leu712Arg) | |
21 | g.43416812A>G | CA410606305 | SIK1 | c.2282T>C (p.Leu761Pro) c.2135T>C (p.Leu712Pro) | |
21 | g.43416812A>T | CA410606306 | SIK1 | c.2282T>A (p.Leu761Gln) c.2135T>A (p.Leu712Gln) | |
21 | g.43416813G>C | CA410606307 | SIK1 | c.2281C>G (p.Leu761Val) c.2134C>G (p.Leu712Val) | |
21 | g.43416813G>T | CA410606308 | SIK1 | c.2281C>A (p.Leu761Met) c.2134C>A (p.Leu712Met) | |
21 | g.43416814C>A | CA321324253 | SIK1 | c.2280G>T (p.Gly760=) c.2133G>T (p.Gly711=) | dbSNP |
21 | g.43416814C= | CA2391216196 | SIK1 | c.2280G= (p.Gly760=) c.2133G= (p.Gly711=) | |
21 | g.43416815C>A | CA410606309 | SIK1 | c.2279G>T (p.Gly760Val) c.2132G>T (p.Gly711Val) | dbSNP |
21 | g.43416815C= | CA2391216197 | SIK1 | c.2279G= (p.Gly760=) c.2132G= (p.Gly711=) | |
21 | g.43416815C>G | CA410606310 | SIK1 | c.2279G>C (p.Gly760Ala) c.2132G>C (p.Gly711Ala) | |
21 | g.43416815C>T | CA410606311 | SIK1 | c.2279G>A (p.Gly760Glu) c.2132G>A (p.Gly711Glu) | ClinVar dbSNP |
21 | g.43416816C>A | CA410606314 | SIK1 | c.2278G>T (p.Gly760Trp) c.2131G>T (p.Gly711Trp) | |
21 | g.43416816C>G | CA410606312 | SIK1 | c.2278G>C (p.Gly760Arg) c.2131G>C (p.Gly711Arg) | |
21 | g.43416816C>T | CA410606313 | SIK1 | c.2278G>A (p.Gly760Arg) c.2131G>A (p.Gly711Arg) | |
21 | g.43416818A>C | CA410606315 | SIK1 | c.2276T>G (p.Leu759Arg) c.2129T>G (p.Leu710Arg) | |
21 | g.43416818A>G | CA410606316 | SIK1 | c.2276T>C (p.Leu759Pro) c.2129T>C (p.Leu710Pro) | |
21 | g.43416818A>T | CA410606317 | SIK1 | c.2276T>A (p.Leu759Gln) c.2129T>A (p.Leu710Gln) | |
21 | g.43416819G>C | CA410606318 | SIK1 | c.2275C>G (p.Leu759Val) c.2128C>G (p.Leu710Val) | |
21 | g.43416819G>T | CA410606319 | SIK1 | c.2275C>A (p.Leu759Met) c.2128C>A (p.Leu710Met) | |
21 | g.43416820G>A | CA2818014360 | SIK1 | c.2274C>T (p.Pro758=) c.2127C>T (p.Pro709=) | |
21 | g.43416821G>A | CA410606320 | SIK1 | c.2273C>T (p.Pro758Leu) c.2126C>T (p.Pro709Leu) | COSMIC |
21 | g.43416821G>C | CA410606321 | SIK1 | c.2273C>G (p.Pro758Arg) c.2126C>G (p.Pro709Arg) | |
21 | g.43416821G>T | CA410606322 | SIK1 | c.2273C>A (p.Pro758His) c.2126C>A (p.Pro709His) | |
21 | g.43416822G>A | CA410606323 | SIK1 | c.2272C>T (p.Pro758Ser) c.2125C>T (p.Pro709Ser) | ClinVar dbSNP |
21 | g.43416822G>C | CA410606324 | SIK1 | c.2272C>G (p.Pro758Ala) c.2125C>G (p.Pro709Ala) | |
21 | g.43416822G= | CA2391216198 | SIK1 | c.2272C= (p.Pro758=) c.2125C= (p.Pro709=) | |
21 | g.43416822G>T | CA410606325 | SIK1 | c.2272C>A (p.Pro758Thr) c.2125C>A (p.Pro709Thr) | |
21 | g.43416823C>A | CA410606326 | SIK1 | c.2271G>T (p.Glu757Asp) c.2124G>T (p.Glu708Asp) | |
21 | g.43416823C= | CA2391216199 | SIK1 | c.2271G= (p.Glu757=) c.2124G= (p.Glu708=) | |
21 | g.43416823C>G | CA410606327 | SIK1 | c.2271G>C (p.Glu757Asp) c.2124G>C (p.Glu708Asp) | |
21 | g.43416823C>T | CA749584699 | SIK1 | c.2271G>A (p.Glu757=) c.2124G>A (p.Glu708=) | dbSNP |
21 | g.43416824T>A | CA410606328 | SIK1 | c.2270A>T (p.Glu757Val) c.2123A>T (p.Glu708Val) | |
21 | g.43416824T>C | CA410606329 | SIK1 | c.2270A>G (p.Glu757Gly) c.2123A>G (p.Glu708Gly) | |
21 | g.43416824T>G | CA410606330 | SIK1 | c.2270A>C (p.Glu757Ala) c.2123A>C (p.Glu708Ala) | |
21 | g.43416825C>A | CA410606331 | SIK1 | c.2269G>T (p.Glu757Ter) c.2122G>T (p.Glu708Ter) | |
21 | g.43416825C>G | CA410606332 | SIK1 | c.2269G>C (p.Glu757Gln) c.2122G>C (p.Glu708Gln) | |
21 | g.43416825C>T | CA410606333 | SIK1 | c.2269G>A (p.Glu757Lys) c.2122G>A (p.Glu708Lys) | |
21 | g.43416826A>C | CA410606335 | SIK1 | c.2268T>G (p.Cys756Trp) c.2121T>G (p.Cys707Trp) | |
21 | g.43416826A>T | CA410606334 | SIK1 | c.2268T>A (p.Cys756Ter) c.2121T>A (p.Cys707Ter) | |
21 | g.43416827C>A | CA410606336 | SIK1 | c.2267G>T (p.Cys756Phe) c.2120G>T (p.Cys707Phe) | |
21 | g.43416827C>G | CA410606337 | SIK1 | c.2267G>C (p.Cys756Ser) c.2120G>C (p.Cys707Ser) | |
21 | g.43416827C>T | CA410606338 | SIK1 | c.2267G>A (p.Cys756Tyr) c.2120G>A (p.Cys707Tyr) | |
21 | g.43416828A>C | CA410606339 | SIK1 | c.2266T>G (p.Cys756Gly) c.2119T>G (p.Cys707Gly) | gnomAD v4 |
21 | g.43416828A>G | CA410606340 | SIK1 | c.2266T>C (p.Cys756Arg) c.2119T>C (p.Cys707Arg) | |
21 | g.43416828A>T | CA410606341 | SIK1 | c.2266T>A (p.Cys756Ser) c.2119T>A (p.Cys707Ser) | |
21 | g.43416829A>C | CA2654732709 | SIK1 | c.2265T>G (p.Gly755=) c.2118T>G (p.Gly706=) | gnomAD v4 |
21 | g.43416830C>A | CA410606342 | SIK1 | c.2264G>T (p.Gly755Val) c.2117G>T (p.Gly706Val) | |
21 | g.43416830C= | CA2391216200 | SIK1 | c.2264G= (p.Gly755=) c.2117G= (p.Gly706=) | |
21 | g.43416830C>G | CA410606344 | SIK1 | c.2264G>C (p.Gly755Ala) c.2117G>C (p.Gly706Ala) | |
21 | g.43416830C>T | CA410606343 | SIK1 | c.2264G>A (p.Gly755Asp) c.2117G>A (p.Gly706Asp) | dbSNP |
21 | g.43416831C>A | CA410606345 | SIK1 | c.2263G>T (p.Gly755Cys) c.2116G>T (p.Gly706Cys) | |
21 | g.43416831C>G | CA410606346 | SIK1 | c.2263G>C (p.Gly755Arg) c.2116G>C (p.Gly706Arg) | ClinVar |
21 | g.43416831C>T | CA410606347 | SIK1 | c.2263G>A (p.Gly755Ser) c.2116G>A (p.Gly706Ser) | |
21 | g.43416832T>A | CA321324257 | SIK1 | c.2262A>T (p.Pro754=) c.2115A>T (p.Pro705=) | dbSNP |
21 | g.43416832T>G | CA2391216202 | SIK1 | c.2262A>C (p.Pro754=) c.2115A>C (p.Pro705=) | dbSNP gnomAD v4 |
21 | g.43416832T= | CA2391216201 | SIK1 | c.2262A= (p.Pro754=) c.2115A= (p.Pro705=) | |
21 | g.43416833G>A | CA410606348 | SIK1 | c.2261C>T (p.Pro754Leu) c.2114C>T (p.Pro705Leu) | dbSNP |
21 | g.43416833G>C | CA410606349 | SIK1 | c.2261C>G (p.Pro754Arg) c.2114C>G (p.Pro705Arg) | |
21 | g.43416833G= | CA2391216203 | SIK1 | c.2261C= (p.Pro754=) c.2114C= (p.Pro705=) | |
21 | g.43416833G>T | CA410606350 | SIK1 | c.2261C>A (p.Pro754Gln) c.2114C>A (p.Pro705Gln) | |
21 | g.43416834G>A | CA410606351 | SIK1 | c.2260C>T (p.Pro754Ser) c.2113C>T (p.Pro705Ser) | |
21 | g.43416834G>C | CA410606352 | SIK1 | c.2260C>G (p.Pro754Ala) c.2113C>G (p.Pro705Ala) | |
21 | g.43416834G>T | CA410606353 | SIK1 | c.2260C>A (p.Pro754Thr) c.2113C>A (p.Pro705Thr) | |
21 | g.43416835G>T | CA2837240922 | SIK1 | c.2259C>A (p.Ala753=) c.2112C>A (p.Ala704=) | |
21 | g.43416836G>A | CA410606354 | SIK1 | c.2258C>T (p.Ala753Val) c.2111C>T (p.Ala704Val) | ClinVar dbSNP |
21 | g.43416836G>C | CA410606356 | SIK1 | c.2258C>G (p.Ala753Gly) c.2111C>G (p.Ala704Gly) | ClinVar dbSNP gnomAD v4 |
21 | g.43416836G= | CA2391216204 | SIK1 | c.2258C= (p.Ala753=) c.2111C= (p.Ala704=) | |
21 | g.43416836G>T | CA410606355 | SIK1 | c.2258C>A (p.Ala753Asp) c.2111C>A (p.Ala704Asp) | dbSNP |
21 | g.43416837C>A | CA321324264 | SIK1 | c.2257G>T (p.Ala753Ser) c.2110G>T (p.Ala704Ser) | ClinVar dbSNP |
21 | g.43416837C= | CA2391216206 | SIK1 | c.2257G= (p.Ala753=) c.2110G= (p.Ala704=) | |
21 | g.43416837C>G | CA410606358 | SIK1 | c.2257G>C (p.Ala753Pro) c.2110G>C (p.Ala704Pro) | |
21 | g.43416837C>T | CA410606357 | SIK1 | c.2257G>A (p.Ala753Thr) c.2110G>A (p.Ala704Thr) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416837_43416838delinsAT | CA915952648 | SIK1 | c.2256_2257delinsAT (p.Ala753Ser) c.2109_2110delinsAT (p.Ala704Ser) | ClinVar dbSNP |
21 | g.43416837_43416838delinsCC | CA2391216205 | SIK1 | c.2256_2257delinsGG (p.Leu752=) c.2109_2110delinsGG (p.Leu703=) | |
21 | g.43416838C= | CA2391216207 | SIK1 | c.2256G= (p.Leu752=) c.2109G= (p.Leu703=) | |
21 | g.43416838C>T | CA321324268 | SIK1 | c.2256G>A (p.Leu752=) c.2109G>A (p.Leu703=) | dbSNP |
21 | g.43416839A>C | CA410606360 | SIK1 | c.2255T>G (p.Leu752Arg) c.2108T>G (p.Leu703Arg) | |
21 | g.43416839A>G | CA410606359 | SIK1 | c.2255T>C (p.Leu752Pro) c.2108T>C (p.Leu703Pro) | ClinVar |
21 | g.43416839A>T | CA410606361 | SIK1 | c.2255T>A (p.Leu752Gln) c.2108T>A (p.Leu703Gln) | |
21 | g.43416840G>C | CA410606362 | SIK1 | c.2254C>G (p.Leu752Val) c.2107C>G (p.Leu703Val) | |
21 | g.43416840G>T | CA410606363 | SIK1 | c.2254C>A (p.Leu752Met) c.2107C>A (p.Leu703Met) | |
21 | g.43416841C>A | CA410606364 | SIK1 | c.2253G>T (p.Arg751Ser) c.2106G>T (p.Arg702Ser) | |
21 | g.43416841C= | CA2391216208 | SIK1 | c.2253G= (p.Arg751=) c.2106G= (p.Arg702=) | |
21 | g.43416841C>G | CA321324272 | SIK1 | c.2253G>C (p.Arg751Ser) c.2106G>C (p.Arg702Ser) | dbSNP |
21 | g.43416842C>A | CA410606365 | SIK1 | c.2252G>T (p.Arg751Met) c.2105G>T (p.Arg702Met) | |
21 | g.43416842C= | CA2391216209 | SIK1 | c.2252G= (p.Arg751=) c.2105G= (p.Arg702=) | |
21 | g.43416842C>G | CA410606366 | SIK1 | c.2252G>C (p.Arg751Thr) c.2105G>C (p.Arg702Thr) | dbSNP |
21 | g.43416842C>T | CA410606367 | SIK1 | c.2252G>A (p.Arg751Lys) c.2105G>A (p.Arg702Lys) | |
21 | g.43416843T>A | CA410606368 | SIK1 | c.2251A>T (p.Arg751Trp) c.2104A>T (p.Arg702Trp) | |
21 | g.43416843T>C | CA410606369 | SIK1 | c.2251A>G (p.Arg751Gly) c.2104A>G (p.Arg702Gly) | |
21 | g.43416843T>G | CA2518212919 | SIK1 | c.2251A>C (p.Arg751=) c.2104A>C (p.Arg702=) | |
21 | g.43416844G>A | CA2580098747 | SIK1 | c.2250C>T (p.Ala750=) c.2103C>T (p.Ala701=) | ClinVar |
21 | g.43416845G>A | CA410606370 | SIK1 | c.2249C>T (p.Ala750Val) c.2102C>T (p.Ala701Val) | |
21 | g.43416845G>C | CA410606371 | SIK1 | c.2249C>G (p.Ala750Gly) c.2102C>G (p.Ala701Gly) | |
21 | g.43416845G>T | CA410606372 | SIK1 | c.2249C>A (p.Ala750Asp) c.2102C>A (p.Ala701Asp) | |
21 | g.43416846C>A | CA410606375 | SIK1 | c.2248G>T (p.Ala750Ser) c.2101G>T (p.Ala701Ser) | |
21 | g.43416846C>G | CA410606373 | SIK1 | c.2248G>C (p.Ala750Pro) c.2101G>C (p.Ala701Pro) | |
21 | g.43416846C>T | CA410606374 | SIK1 | c.2248G>A (p.Ala750Thr) c.2101G>A (p.Ala701Thr) | |
21 | g.43416847del | CA2654732710 | SIK1 | c.2248del (p.Ala750ProfsTer22) c.2101del (p.Ala701ProfsTer22) | gnomAD v4 |
21 | g.43416848A>C | CA410606376 | SIK1 | c.2246T>G (p.Leu749Arg) c.2099T>G (p.Leu700Arg) | |
21 | g.43416848A>G | CA410606377 | SIK1 | c.2246T>C (p.Leu749Pro) c.2099T>C (p.Leu700Pro) | |
21 | g.43416848A>T | CA410606378 | SIK1 | c.2246T>A (p.Leu749Gln) c.2099T>A (p.Leu700Gln) | |
21 | g.43416849G>A | CA2818014365 | SIK1 | c.2245C>T (p.Leu749=) c.2098C>T (p.Leu700=) | |
21 | g.43416849G>C | CA410606379 | SIK1 | c.2245C>G (p.Leu749Val) c.2098C>G (p.Leu700Val) | |
21 | g.43416849G>T | CA410606380 | SIK1 | c.2245C>A (p.Leu749Met) c.2098C>A (p.Leu700Met) | |
21 | g.43416851C>A | CA321324284 | SIK1 | c.2243G>T (p.Arg748Leu) c.2096G>T (p.Arg699Leu) | ClinVar dbSNP gnomAD v4 |
21 | g.43416851C= | CA2391216210 | SIK1 | c.2243G= (p.Arg748=) c.2096G= (p.Arg699=) | |
21 | g.43416851C>G | CA410606381 | SIK1 | c.2243G>C (p.Arg748Pro) c.2096G>C (p.Arg699Pro) | |
21 | g.43416851C>T | CA321324276 | SIK1 | c.2243G>A (p.Arg748His) c.2096G>A (p.Arg699His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416852G>A | CA321324287 | SIK1 | c.2242C>T (p.Arg748Cys) c.2095C>T (p.Arg699Cys) | ClinVar dbSNP gnomAD v4 |
21 | g.43416852G>C | CA410606382 | SIK1 | c.2242C>G (p.Arg748Gly) c.2095C>G (p.Arg699Gly) | |
21 | g.43416852G= | CA2391216211 | SIK1 | c.2242C= (p.Arg748=) c.2095C= (p.Arg699=) | |
21 | g.43416852G>T | CA410606383 | SIK1 | c.2242C>A (p.Arg748Ser) c.2095C>A (p.Arg699Ser) | |
21 | g.43416853T>G | CA2847847595 | SIK1 | c.2241A>C (p.Pro747=) c.2094A>C (p.Pro698=) | |
21 | g.43416854G>A | CA410606386 | SIK1 | c.2240C>T (p.Pro747Leu) c.2093C>T (p.Pro698Leu) | |
21 | g.43416854G>C | CA410606385 | SIK1 | c.2240C>G (p.Pro747Arg) c.2093C>G (p.Pro698Arg) | |
21 | g.43416854G>T | CA410606384 | SIK1 | c.2240C>A (p.Pro747Gln) c.2093C>A (p.Pro698Gln) |