Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
21 | g.43416855G>A | CA410606387 | SIK1 | c.2239C>T (p.Pro747Ser) c.2092C>T (p.Pro698Ser) | |
21 | g.43416855G>C | CA410606388 | SIK1 | c.2239C>G (p.Pro747Ala) c.2092C>G (p.Pro698Ala) | |
21 | g.43416855G>T | CA410606389 | SIK1 | c.2239C>A (p.Pro747Thr) c.2092C>A (p.Pro698Thr) | |
21 | g.43416856T>C | CA2739267692 | SIK1 | c.2238A>G (p.Pro746=) c.2091A>G (p.Pro697=) | ClinVar |
21 | g.43416856T>G | CA2654732711 | SIK1 | c.2238A>C (p.Pro746=) c.2091A>C (p.Pro697=) | gnomAD v4 |
21 | g.43416857G>A | CA410606390 | SIK1 | c.2237C>T (p.Pro746Leu) c.2090C>T (p.Pro697Leu) | |
21 | g.43416857G>C | CA410606391 | SIK1 | c.2237C>G (p.Pro746Arg) c.2090C>G (p.Pro697Arg) | |
21 | g.43416857G>T | CA410606392 | SIK1 | c.2237C>A (p.Pro746Gln) c.2090C>A (p.Pro697Gln) | |
21 | g.43416858G>A | CA410606393 | SIK1 | c.2236C>T (p.Pro746Ser) c.2089C>T (p.Pro697Ser) | |
21 | g.43416858G>C | CA410606394 | SIK1 | c.2236C>G (p.Pro746Ala) c.2089C>G (p.Pro697Ala) | |
21 | g.43416858G>T | CA410606395 | SIK1 | c.2236C>A (p.Pro746Thr) c.2089C>A (p.Pro697Thr) | |
21 | g.43416860G>A | CA410606396 | SIK1 | c.2234C>T (p.Pro745Leu) c.2087C>T (p.Pro696Leu) | |
21 | g.43416860G>C | CA410606397 | SIK1 | c.2234C>G (p.Pro745Arg) c.2087C>G (p.Pro696Arg) | |
21 | g.43416860G>T | CA410606398 | SIK1 | c.2234C>A (p.Pro745His) c.2087C>A (p.Pro696His) | |
21 | g.43416861G>A | CA410606401 | SIK1 | c.2233C>T (p.Pro745Ser) c.2086C>T (p.Pro696Ser) | |
21 | g.43416861G>C | CA410606399 | SIK1 | c.2233C>G (p.Pro745Ala) c.2086C>G (p.Pro696Ala) | |
21 | g.43416861G>T | CA410606400 | SIK1 | c.2233C>A (p.Pro745Thr) c.2086C>A (p.Pro696Thr) | |
21 | g.43416862C>T | CA645601761 | SIK1 | c.2232G>A (p.Val744=) c.2085G>A (p.Val695=) | COSMIC |
21 | g.43416863A>C | CA410606402 | SIK1 | c.2231T>G (p.Val744Gly) c.2084T>G (p.Val695Gly) | |
21 | g.43416863A>G | CA410606403 | SIK1 | c.2231T>C (p.Val744Ala) c.2084T>C (p.Val695Ala) | |
21 | g.43416863A>T | CA410606404 | SIK1 | c.2231T>A (p.Val744Glu) c.2084T>A (p.Val695Glu) | |
21 | g.43416864C>A | CA410606405 | SIK1 | c.2230G>T (p.Val744Leu) c.2083G>T (p.Val695Leu) | |
21 | g.43416864C= | CA2391216212 | SIK1 | c.2230G= (p.Val744=) c.2083G= (p.Val695=) | |
21 | g.43416864C>G | CA410606406 | SIK1 | c.2230G>C (p.Val744Leu) c.2083G>C (p.Val695Leu) | ClinVar |
21 | g.43416864C>T | CA321324291 | SIK1 | c.2230G>A (p.Val744Met) c.2083G>A (p.Val695Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416865A>C | CA2654732712 | SIK1 | c.2229T>G (p.Ala743=) c.2082T>G (p.Ala694=) | gnomAD v4 |
21 | g.43416866G>A | CA410606407 | SIK1 | c.2228C>T (p.Ala743Val) c.2081C>T (p.Ala694Val) | |
21 | g.43416866G>C | CA410606408 | SIK1 | c.2228C>G (p.Ala743Gly) c.2081C>G (p.Ala694Gly) | dbSNP |
21 | g.43416866G>T | CA410606409 | SIK1 | c.2228C>A (p.Ala743Asp) c.2081C>A (p.Ala694Asp) | dbSNP |
21 | g.43416867C>A | CA410606410 | SIK1 | c.2227G>T (p.Ala743Ser) c.2080G>T (p.Ala694Ser) | |
21 | g.43416867C= | CA2391216213 | SIK1 | c.2227G= (p.Ala743=) c.2080G= (p.Ala694=) | |
21 | g.43416867C>G | CA410606411 | SIK1 | c.2227G>C (p.Ala743Pro) c.2080G>C (p.Ala694Pro) | |
21 | g.43416867C>T | CA321324294 | SIK1 | c.2227G>A (p.Ala743Thr) c.2080G>A (p.Ala694Thr) | ClinVar dbSNP gnomAD v4 |
21 | g.43416868G>A | CA321324296 | SIK1 | c.2226C>T (p.Pro742=) c.2079C>T (p.Pro693=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416868G>C | CA321324300 | SIK1 | c.2226C>G (p.Pro742=) c.2079C>G (p.Pro693=) | ClinVar dbSNP gnomAD v4 |
21 | g.43416868G= | CA2391216214 | SIK1 | c.2226C= (p.Pro742=) c.2079C= (p.Pro693=) | |
21 | g.43416869G>A | CA321324320 | SIK1 | c.2225C>T (p.Pro742Leu) c.2078C>T (p.Pro693Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416869G>C | CA410606413 | SIK1 | c.2225C>G (p.Pro742Arg) c.2078C>G (p.Pro693Arg) | |
21 | g.43416869G= | CA2391216215 | SIK1 | c.2225C= (p.Pro742=) c.2078C= (p.Pro693=) | |
21 | g.43416869G>T | CA410606412 | SIK1 | c.2225C>A (p.Pro742His) c.2078C>A (p.Pro693His) | |
21 | g.43416870G>A | CA410606414 | SIK1 | c.2224C>T (p.Pro742Ser) c.2077C>T (p.Pro693Ser) | COSMIC |
21 | g.43416870G>C | CA410606415 | SIK1 | c.2224C>G (p.Pro742Ala) c.2077C>G (p.Pro693Ala) | |
21 | g.43416870G>T | CA410606416 | SIK1 | c.2224C>A (p.Pro742Thr) c.2077C>A (p.Pro693Thr) | |
21 | g.43416872A= | CA2391216216 | SIK1 | c.2222T= (p.Leu741=) c.2075T= (p.Leu692=) | |
21 | g.43416872A>C | CA410606417 | SIK1 | c.2222T>G (p.Leu741Arg) c.2075T>G (p.Leu692Arg) | ClinVar dbSNP |
21 | g.43416872A>G | CA410606418 | SIK1 | c.2222T>C (p.Leu741Pro) c.2075T>C (p.Leu692Pro) | |
21 | g.43416872A>T | CA410606419 | SIK1 | c.2222T>A (p.Leu741His) c.2075T>A (p.Leu692His) | |
21 | g.43416873G>A | CA410606420 | SIK1 | c.2221C>T (p.Leu741Phe) c.2074C>T (p.Leu692Phe) | |
21 | g.43416873G>C | CA410606421 | SIK1 | c.2221C>G (p.Leu741Val) c.2074C>G (p.Leu692Val) | |
21 | g.43416873G>T | CA410606422 | SIK1 | c.2221C>A (p.Leu741Ile) c.2074C>A (p.Leu692Ile) | |
21 | g.43416874G>A | CA2739267693 | SIK1 | c.2220C>T (p.Ala740=) c.2073C>T (p.Ala691=) | ClinVar |
21 | g.43416875G>A | CA410606423 | SIK1 | c.2219C>T (p.Ala740Val) c.2072C>T (p.Ala691Val) | |
21 | g.43416875G>C | CA410606424 | SIK1 | c.2219C>G (p.Ala740Gly) c.2072C>G (p.Ala691Gly) | |
21 | g.43416875G>T | CA410606425 | SIK1 | c.2219C>A (p.Ala740Asp) c.2072C>A (p.Ala691Asp) | |
21 | g.43416876C>A | CA410606427 | SIK1 | c.2218G>T (p.Ala740Ser) c.2071G>T (p.Ala691Ser) | |
21 | g.43416876C= | CA2391216217 | SIK1 | c.2218G= (p.Ala740=) c.2071G= (p.Ala691=) | |
21 | g.43416876C>G | CA410606426 | SIK1 | c.2218G>C (p.Ala740Pro) c.2071G>C (p.Ala691Pro) | |
21 | g.43416876C>T | CA321324323 | SIK1 | c.2218G>A (p.Ala740Thr) c.2071G>A (p.Ala691Thr) | ClinVar dbSNP gnomAD v4 |
21 | g.43416877G>A | CA321324326 | SIK1 | c.2217C>T (p.Thr739=) c.2070C>T (p.Thr690=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416877G= | CA2391216218 | SIK1 | c.2217C= (p.Thr739=) c.2070C= (p.Thr690=) | |
21 | g.43416878G>A | CA410606428 | SIK1 | c.2216C>T (p.Thr739Ile) c.2069C>T (p.Thr690Ile) | |
21 | g.43416878G>C | CA410606429 | SIK1 | c.2216C>G (p.Thr739Ser) c.2069C>G (p.Thr690Ser) | |
21 | g.43416878G>T | CA410606430 | SIK1 | c.2216C>A (p.Thr739Asn) c.2069C>A (p.Thr690Asn) | |
21 | g.43416879T>A | CA410606431 | SIK1 | c.2215A>T (p.Thr739Ser) c.2068A>T (p.Thr690Ser) | gnomAD v4 |
21 | g.43416879T>C | CA410606432 | SIK1 | c.2215A>G (p.Thr739Ala) c.2068A>G (p.Thr690Ala) | |
21 | g.43416879T>G | CA410606433 | SIK1 | c.2215A>C (p.Thr739Pro) c.2068A>C (p.Thr690Pro) | |
21 | g.43416880G>A | CA749584756 | SIK1 | c.2214C>T (p.Pro738=) c.2067C>T (p.Pro689=) | dbSNP |
21 | g.43416880G= | CA2391216219 | SIK1 | c.2214C= (p.Pro738=) c.2067C= (p.Pro689=) | |
21 | g.43416881G>A | CA410606434 | SIK1 | c.2213C>T (p.Pro738Leu) c.2066C>T (p.Pro689Leu) | |
21 | g.43416881G>C | CA410606435 | SIK1 | c.2213C>G (p.Pro738Arg) c.2066C>G (p.Pro689Arg) | |
21 | g.43416881G>T | CA410606436 | SIK1 | c.2213C>A (p.Pro738His) c.2066C>A (p.Pro689His) | |
21 | g.43416882G>A | CA410606439 | SIK1 | c.2212C>T (p.Pro738Ser) c.2065C>T (p.Pro689Ser) | |
21 | g.43416882G>C | CA410606438 | SIK1 | c.2212C>G (p.Pro738Ala) c.2065C>G (p.Pro689Ala) | gnomAD v4 |
21 | g.43416882G>T | CA410606437 | SIK1 | c.2212C>A (p.Pro738Thr) c.2065C>A (p.Pro689Thr) | |
21 | g.43416883G>A | CA321324329 | SIK1 | c.2211C>T (p.Gly737=) c.2064C>T (p.Gly688=) | ClinVar dbSNP |
21 | g.43416883G= | CA2391216220 | SIK1 | c.2211C= (p.Gly737=) c.2064C= (p.Gly688=) | |
21 | g.43416884C>A | CA410606440 | SIK1 | c.2210G>T (p.Gly737Val) c.2063G>T (p.Gly688Val) | COSMIC |
21 | g.43416884C>G | CA410606441 | SIK1 | c.2210G>C (p.Gly737Ala) c.2063G>C (p.Gly688Ala) | |
21 | g.43416884C>T | CA410606442 | SIK1 | c.2210G>A (p.Gly737Asp) c.2063G>A (p.Gly688Asp) | |
21 | g.43416885C>A | CA410606443 | SIK1 | c.2209G>T (p.Gly737Cys) c.2062G>T (p.Gly688Cys) | dbSNP |
21 | g.43416885C= | CA2391216221 | SIK1 | c.2209G= (p.Gly737=) c.2062G= (p.Gly688=) | |
21 | g.43416885C>G | CA410606444 | SIK1 | c.2209G>C (p.Gly737Arg) c.2062G>C (p.Gly688Arg) | |
21 | g.43416885C>T | CA321324332 | SIK1 | c.2209G>A (p.Gly737Ser) c.2062G>A (p.Gly688Ser) | ClinVar dbSNP gnomAD v4 |
21 | g.43416886G>A | CA321324333 | SIK1 | c.2208C>T (p.Thr736=) c.2061C>T (p.Thr687=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416886G>C | CA321324336 | SIK1 | c.2208C>G (p.Thr736=) c.2061C>G (p.Thr687=) | ClinVar dbSNP |
21 | g.43416886G= | CA2391216222 | SIK1 | c.2208C= (p.Thr736=) c.2061C= (p.Thr687=) | |
21 | g.43416887G>A | CA410606445 | SIK1 | c.2207C>T (p.Thr736Ile) c.2060C>T (p.Thr687Ile) | |
21 | g.43416887G>C | CA410606446 | SIK1 | c.2207C>G (p.Thr736Ser) c.2060C>G (p.Thr687Ser) | |
21 | g.43416887G>T | CA410606447 | SIK1 | c.2207C>A (p.Thr736Asn) c.2060C>A (p.Thr687Asn) | |
21 | g.43416888T>A | CA410606448 | SIK1 | c.2206A>T (p.Thr736Ser) c.2059A>T (p.Thr687Ser) | |
21 | g.43416888T>C | CA410606449 | SIK1 | c.2206A>G (p.Thr736Ala) c.2059A>G (p.Thr687Ala) | |
21 | g.43416888T>G | CA410606450 | SIK1 | c.2206A>C (p.Thr736Pro) c.2059A>C (p.Thr687Pro) | |
21 | g.43416890C>A | CA410606451 | SIK1 | c.2204G>T (p.Gly735Val) c.2057G>T (p.Gly686Val) | |
21 | g.43416890C= | CA2391216223 | SIK1 | c.2204G= (p.Gly735=) c.2057G= (p.Gly686=) | |
21 | g.43416890C>G | CA410606452 | SIK1 | c.2204G>C (p.Gly735Ala) c.2057G>C (p.Gly686Ala) | |
21 | g.43416890C>T | CA321324346 | SIK1 | c.2204G>A (p.Gly735Asp) c.2057G>A (p.Gly686Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43416891C>A | CA410606453 | SIK1 | c.2203G>T (p.Gly735Cys) c.2056G>T (p.Gly686Cys) | |
21 | g.43416891C>G | CA410606454 | SIK1 | c.2203G>C (p.Gly735Arg) c.2056G>C (p.Gly686Arg) | |
21 | g.43416891C>T | CA410606455 | SIK1 | c.2203G>A (p.Gly735Ser) c.2056G>A (p.Gly686Ser) |