| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 21 | g.43416892A= | CA2391216224 | SIK1 | c.2202T= (p.Ile734=) c.2055T= (p.Ile685=) | |
| 21 | g.43416892A>C | CA410606456 | SIK1 | c.2202T>G (p.Ile734Met) c.2055T>G (p.Ile685Met) | |
| 21 | g.43416892A>G | CA321324348 | SIK1 | c.2202T>C (p.Ile734=) c.2055T>C (p.Ile685=) | ClinVar dbSNP |
| 21 | g.43416893A= | CA2391216225 | SIK1 | c.2201T= (p.Ile734=) c.2054T= (p.Ile685=) | |
| 21 | g.43416893A>C | CA410606457 | SIK1 | c.2201T>G (p.Ile734Ser) c.2054T>G (p.Ile685Ser) | gnomAD v4 |
| 21 | g.43416893A>G | CA321324351 | SIK1 | c.2201T>C (p.Ile734Thr) c.2054T>C (p.Ile685Thr) | ClinVar dbSNP |
| 21 | g.43416893A>T | CA410606458 | SIK1 | c.2201T>A (p.Ile734Asn) c.2054T>A (p.Ile685Asn) | |
| 21 | g.43416894T>A | CA410606459 | SIK1 | c.2200A>T (p.Ile734Phe) c.2053A>T (p.Ile685Phe) | |
| 21 | g.43416894T>C | CA410606460 | SIK1 | c.2200A>G (p.Ile734Val) c.2053A>G (p.Ile685Val) | |
| 21 | g.43416894T>G | CA410606461 | SIK1 | c.2200A>C (p.Ile734Leu) c.2053A>C (p.Ile685Leu) | ClinVar |
| 21 | g.43416895G>C | CA410606463 | SIK1 | c.2199C>G (p.His733Gln) c.2052C>G (p.His684Gln) | |
| 21 | g.43416895G>T | CA410606462 | SIK1 | c.2199C>A (p.His733Gln) c.2052C>A (p.His684Gln) | |
| 21 | g.43416896T>A | CA410606464 | SIK1 | c.2198A>T (p.His733Leu) c.2051A>T (p.His684Leu) | |
| 21 | g.43416896T>C | CA410606466 | SIK1 | c.2198A>G (p.His733Arg) c.2051A>G (p.His684Arg) | |
| 21 | g.43416896T>G | CA410606465 | SIK1 | c.2198A>C (p.His733Pro) c.2051A>C (p.His684Pro) | |
| 21 | g.43416897G>A | CA410606467 | SIK1 | c.2197C>T (p.His733Tyr) c.2050C>T (p.His684Tyr) | |
| 21 | g.43416897G>C | CA410606468 | SIK1 | c.2197C>G (p.His733Asp) c.2050C>G (p.His684Asp) | |
| 21 | g.43416897G>T | CA410606469 | SIK1 | c.2197C>A (p.His733Asn) c.2050C>A (p.His684Asn) | |
| 21 | g.43416898C= | CA2391216226 | SIK1 | c.2196G= (p.Leu732=) c.2049G= (p.Leu683=) | |
| 21 | g.43416898C>T | CA321324355 | SIK1 | c.2196G>A (p.Leu732=) c.2049G>A (p.Leu683=) | ClinVar dbSNP |
| 21 | g.43416899A= | CA2391216227 | SIK1 | c.2195T= (p.Leu732=) c.2048T= (p.Leu683=) | |
| 21 | g.43416899A>C | CA410606470 | SIK1 | c.2195T>G (p.Leu732Arg) c.2048T>G (p.Leu683Arg) | ClinVar |
| 21 | g.43416899A>G | CA410606471 | SIK1 | c.2195T>C (p.Leu732Pro) c.2048T>C (p.Leu683Pro) | dbSNP |
| 21 | g.43416899A>T | CA410606472 | SIK1 | c.2195T>A (p.Leu732Gln) c.2048T>A (p.Leu683Gln) | |
| 21 | g.43416900G>C | CA410606474 | SIK1 | c.2194C>G (p.Leu732Val) c.2047C>G (p.Leu683Val) | |
| 21 | g.43416900G= | CA2391216228 | SIK1 | c.2194C= (p.Leu732=) c.2047C= (p.Leu683=) | |
| 21 | g.43416900G>T | CA410606473 | SIK1 | c.2194C>A (p.Leu732Met) c.2047C>A (p.Leu683Met) | dbSNP |
| 21 | g.43416901G>A | CA321324358 | SIK1 | c.2193C>T (p.His731=) c.2046C>T (p.His682=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416901G>C | CA410606475 | SIK1 | c.2193C>G (p.His731Gln) c.2046C>G (p.His682Gln) | |
| 21 | g.43416901G= | CA2391216229 | SIK1 | c.2193C= (p.His731=) c.2046C= (p.His682=) | |
| 21 | g.43416901G>T | CA410606476 | SIK1 | c.2193C>A (p.His731Gln) c.2046C>A (p.His682Gln) | gnomAD v4 |
| 21 | g.43416902T>A | CA410606477 | SIK1 | c.2192A>T (p.His731Leu) c.2045A>T (p.His682Leu) | COSMIC |
| 21 | g.43416902T>C | CA410606478 | SIK1 | c.2192A>G (p.His731Arg) c.2045A>G (p.His682Arg) | |
| 21 | g.43416902T>G | CA410606479 | SIK1 | c.2192A>C (p.His731Pro) c.2045A>C (p.His682Pro) | |
| 21 | g.43416903G>A | CA410606480 | SIK1 | c.2191C>T (p.His731Tyr) c.2044C>T (p.His682Tyr) | ClinVar dbSNP |
| 21 | g.43416903G>C | CA410606482 | SIK1 | c.2191C>G (p.His731Asp) c.2044C>G (p.His682Asp) | |
| 21 | g.43416903G= | CA2391216230 | SIK1 | c.2191C= (p.His731=) c.2044C= (p.His682=) | |
| 21 | g.43416903G>T | CA410606481 | SIK1 | c.2191C>A (p.His731Asn) c.2044C>A (p.His682Asn) | ClinVar dbSNP |
| 21 | g.43416904T>G | CA2818014403 | SIK1 | c.2190A>C (p.Thr730=) c.2043A>C (p.Thr681=) | |
| 21 | g.43416905G>A | CA410606483 | SIK1 | c.2189C>T (p.Thr730Ile) c.2042C>T (p.Thr681Ile) | ClinVar |
| 21 | g.43416905G>C | CA410606484 | SIK1 | c.2189C>G (p.Thr730Arg) c.2042C>G (p.Thr681Arg) | |
| 21 | g.43416905G>T | CA410606485 | SIK1 | c.2189C>A (p.Thr730Lys) c.2042C>A (p.Thr681Lys) | |
| 21 | g.43416906T>A | CA410606486 | SIK1 | c.2188A>T (p.Thr730Ser) c.2041A>T (p.Thr681Ser) | ClinVar dbSNP |
| 21 | g.43416906T>C | CA410606487 | SIK1 | c.2188A>G (p.Thr730Ala) c.2041A>G (p.Thr681Ala) | |
| 21 | g.43416906T>G | CA410606488 | SIK1 | c.2188A>C (p.Thr730Pro) c.2041A>C (p.Thr681Pro) | |
| 21 | g.43416906T= | CA2391216231 | SIK1 | c.2188A= (p.Thr730=) c.2041A= (p.Thr681=) | |
| 21 | g.43416907G>C | CA410606489 | SIK1 | c.2187C>G (p.Asp729Glu) c.2040C>G (p.Asp680Glu) | |
| 21 | g.43416907G>T | CA410606490 | SIK1 | c.2187C>A (p.Asp729Glu) c.2040C>A (p.Asp680Glu) | |
| 21 | g.43416908T>A | CA410606491 | SIK1 | c.2186A>T (p.Asp729Val) c.2039A>T (p.Asp680Val) | |
| 21 | g.43416908T>C | CA410606492 | SIK1 | c.2186A>G (p.Asp729Gly) c.2039A>G (p.Asp680Gly) | |
| 21 | g.43416908T>G | CA410606493 | SIK1 | c.2186A>C (p.Asp729Ala) c.2039A>C (p.Asp680Ala) | |
| 21 | g.43416909C>A | CA410606494 | SIK1 | c.2185G>T (p.Asp729Tyr) c.2038G>T (p.Asp680Tyr) | |
| 21 | g.43416909C>G | CA410606496 | SIK1 | c.2185G>C (p.Asp729His) c.2038G>C (p.Asp680His) | |
| 21 | g.43416909C>T | CA410606495 | SIK1 | c.2185G>A (p.Asp729Asn) c.2038G>A (p.Asp680Asn) | |
| 21 | g.43416911A= | CA2391216232 | SIK1 | c.2183T= (p.Leu728=) c.2036T= (p.Leu679=) | |
| 21 | g.43416911A>C | CA410606497 | SIK1 | c.2183T>G (p.Leu728Arg) c.2036T>G (p.Leu679Arg) | |
| 21 | g.43416911A>G | CA410606498 | SIK1 | c.2183T>C (p.Leu728Pro) c.2036T>C (p.Leu679Pro) | |
| 21 | g.43416911A>T | CA410606499 | SIK1 | c.2183T>A (p.Leu728Gln) c.2036T>A (p.Leu679Gln) | dbSNP |
| 21 | g.43416912G>A | CA321324359 | SIK1 | c.2182C>T (p.Leu728=) c.2035C>T (p.Leu679=) | ClinVar dbSNP |
| 21 | g.43416912G>C | CA410606500 | SIK1 | c.2182C>G (p.Leu728Val) c.2035C>G (p.Leu679Val) | |
| 21 | g.43416912G= | CA2391216233 | SIK1 | c.2182C= (p.Leu728=) c.2035C= (p.Leu679=) | |
| 21 | g.43416912G>T | CA410606501 | SIK1 | c.2182C>A (p.Leu728Met) c.2035C>A (p.Leu679Met) | |
| 21 | g.43416913G>T | CA2818014405 | SIK1 | c.2181C>A (p.Leu727=) c.2034C>A (p.Leu678=) | |
| 21 | g.43416914A>C | CA410606502 | SIK1 | c.2180T>G (p.Leu727Arg) c.2033T>G (p.Leu678Arg) | |
| 21 | g.43416914A>G | CA410606503 | SIK1 | c.2180T>C (p.Leu727Pro) c.2033T>C (p.Leu678Pro) | |
| 21 | g.43416914A>T | CA410606504 | SIK1 | c.2180T>A (p.Leu727His) c.2033T>A (p.Leu678His) | |
| 21 | g.43416915G>A | CA410606505 | SIK1 | c.2179C>T (p.Leu727Phe) c.2032C>T (p.Leu678Phe) | ClinVar dbSNP |
| 21 | g.43416915G>C | CA410606506 | SIK1 | c.2179C>G (p.Leu727Val) c.2032C>G (p.Leu678Val) | |
| 21 | g.43416915G= | CA2391216234 | SIK1 | c.2179C= (p.Leu727=) c.2032C= (p.Leu678=) | |
| 21 | g.43416915G>T | CA410606507 | SIK1 | c.2179C>A (p.Leu727Ile) c.2032C>A (p.Leu678Ile) | |
| 21 | g.43416916C>A | CA410606508 | SIK1 | c.2178G>T (p.Gln726His) c.2031G>T (p.Gln677His) | |
| 21 | g.43416916C>G | CA410606509 | SIK1 | c.2178G>C (p.Gln726His) c.2031G>C (p.Gln677His) | |
| 21 | g.43416917T>A | CA410606510 | SIK1 | c.2177A>T (p.Gln726Leu) c.2030A>T (p.Gln677Leu) | |
| 21 | g.43416917T>C | CA410606512 | SIK1 | c.2177A>G (p.Gln726Arg) c.2030A>G (p.Gln677Arg) | |
| 21 | g.43416917T>G | CA410606511 | SIK1 | c.2177A>C (p.Gln726Pro) c.2030A>C (p.Gln677Pro) | |
| 21 | g.43416918G>A | CA410606513 | SIK1 | c.2176C>T (p.Gln726Ter) c.2029C>T (p.Gln677Ter) | |
| 21 | g.43416918G>C | CA410606514 | SIK1 | c.2176C>G (p.Gln726Glu) c.2029C>G (p.Gln677Glu) | |
| 21 | g.43416918G>T | CA410606515 | SIK1 | c.2176C>A (p.Gln726Lys) c.2029C>A (p.Gln677Lys) | |
| 21 | g.43416924_43416946del | CA645601762 | SIK1 | c.2154_2176del (p.Ser719AlafsTer?) c.2007_2029del (p.Ser670AlafsTer?) | COSMIC |
| 21 | g.43416919C= | CA2391216235 | SIK1 | c.2175G= (p.Ala725=) c.2028G= (p.Ala676=) | |
| 21 | g.43416919C>T | CA321324363 | SIK1 | c.2175G>A (p.Ala725=) c.2028G>A (p.Ala676=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416920G>A | CA321324365 | SIK1 | c.2174C>T (p.Ala725Val) c.2027C>T (p.Ala676Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416920G>C | CA410606516 | SIK1 | c.2174C>G (p.Ala725Gly) c.2027C>G (p.Ala676Gly) | |
| 21 | g.43416920G= | CA2391216236 | SIK1 | c.2174C= (p.Ala725=) c.2027C= (p.Ala676=) | |
| 21 | g.43416920G>T | CA410606517 | SIK1 | c.2174C>A (p.Ala725Glu) c.2027C>A (p.Ala676Glu) | |
| 21 | g.43416921C>A | CA410606518 | SIK1 | c.2173G>T (p.Ala725Ser) c.2026G>T (p.Ala676Ser) | |
| 21 | g.43416921C>G | CA410606519 | SIK1 | c.2173G>C (p.Ala725Pro) c.2026G>C (p.Ala676Pro) | |
| 21 | g.43416921C>T | CA410606520 | SIK1 | c.2173G>A (p.Ala725Thr) c.2026G>A (p.Ala676Thr) | ClinVar |
| 21 | g.43416922C= | CA2391216237 | SIK1 | c.2172G= (p.Ala724=) c.2025G= (p.Ala675=) | |
| 21 | g.43416922C>T | CA321324367 | SIK1 | c.2172G>A (p.Ala724=) c.2025G>A (p.Ala675=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416923G>A | CA321324370 | SIK1 | c.2171C>T (p.Ala724Val) c.2024C>T (p.Ala675Val) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416923G>C | CA410606522 | SIK1 | c.2171C>G (p.Ala724Gly) c.2024C>G (p.Ala675Gly) | |
| 21 | g.43416923G= | CA2391216238 | SIK1 | c.2171C= (p.Ala724=) c.2024C= (p.Ala675=) | |
| 21 | g.43416923G>T | CA410606521 | SIK1 | c.2171C>A (p.Ala724Glu) c.2024C>A (p.Ala675Glu) | |
| 21 | g.43416924_43416926del | CA2739267694 | SIK1 | c.2169_2171del (p.Ala724del) c.2022_2024del (p.Ala675del) | ClinVar |
| 21 | g.43416924C>A | CA410606523 | SIK1 | c.2170G>T (p.Ala724Ser) c.2023G>T (p.Ala675Ser) | |
| 21 | g.43416924C>G | CA410606525 | SIK1 | c.2170G>C (p.Ala724Pro) c.2023G>C (p.Ala675Pro) | |
| 21 | g.43416924C>T | CA410606524 | SIK1 | c.2170G>A (p.Ala724Thr) c.2023G>A (p.Ala675Thr) | |
| 21 | g.43416925T>A | CA2818014407 | SIK1 | c.2169A>T (p.Ser723=) c.2022A>T (p.Ser674=) | |
| 21 | g.43416925T>C | CA2737819887 | SIK1 | c.2169A>G (p.Ser723=) c.2022A>G (p.Ser674=) | dbSNP |
| 21 | g.43416925T>G | CA1022641456 | SIK1 | c.2169A>C (p.Ser723=) c.2022A>C (p.Ser674=) | gnomAD v3 gnomAD v4 |
| 21 | g.43416926G>A | CA410606526 | SIK1 | c.2168C>T (p.Ser723Leu) c.2021C>T (p.Ser674Leu) | |
| 21 | g.43416926G>C | CA410606527 | SIK1 | c.2168C>G (p.Ser723Ter) c.2021C>G (p.Ser674Ter) | |
| 21 | g.43416926G>T | CA410606528 | SIK1 | c.2168C>A (p.Ser723Ter) c.2021C>A (p.Ser674Ter) | |
| 21 | g.43416927A>C | CA410606529 | SIK1 | c.2167T>G (p.Ser723Ala) c.2020T>G (p.Ser674Ala) | |
| 21 | g.43416927A>G | CA410606530 | SIK1 | c.2167T>C (p.Ser723Pro) c.2020T>C (p.Ser674Pro) | |
| 21 | g.43416927A>T | CA410606531 | SIK1 | c.2167T>A (p.Ser723Thr) c.2020T>A (p.Ser674Thr) | |
| 21 | g.43416928G>A | CA321324381 | SIK1 | c.2166C>T (p.Ala722=) c.2019C>T (p.Ala673=) | ClinVar dbSNP |
| 21 | g.43416928G= | CA2391216239 | SIK1 | c.2166C= (p.Ala722=) c.2019C= (p.Ala673=) | |
| 21 | g.43416929G>A | CA410606532 | SIK1 | c.2165C>T (p.Ala722Val) c.2018C>T (p.Ala673Val) | |
| 21 | g.43416929G>C | CA410606533 | SIK1 | c.2165C>G (p.Ala722Gly) c.2018C>G (p.Ala673Gly) | |
| 21 | g.43416929G= | CA2391216240 | SIK1 | c.2165C= (p.Ala722=) c.2018C= (p.Ala673=) | |
| 21 | g.43416929G>T | CA410606534 | SIK1 | c.2165C>A (p.Ala722Asp) c.2018C>A (p.Ala673Asp) | ClinVar dbSNP |
| 21 | g.43416930C>A | CA410606535 | SIK1 | c.2164G>T (p.Ala722Ser) c.2017G>T (p.Ala673Ser) | |
| 21 | g.43416930C>G | CA410606536 | SIK1 | c.2164G>C (p.Ala722Pro) c.2017G>C (p.Ala673Pro) | |
| 21 | g.43416930C>T | CA410606537 | SIK1 | c.2164G>A (p.Ala722Thr) c.2017G>A (p.Ala673Thr) | |
| 21 | g.43416932A= | CA2391216241 | SIK1 | c.2162T= (p.Val721=) c.2015T= (p.Val672=) | |
| 21 | g.43416932A>C | CA410606538 | SIK1 | c.2162T>G (p.Val721Gly) c.2015T>G (p.Val672Gly) | dbSNP |
| 21 | g.43416932A>G | CA410606540 | SIK1 | c.2162T>C (p.Val721Ala) c.2015T>C (p.Val672Ala) | dbSNP |
| 21 | g.43416932A>T | CA410606539 | SIK1 | c.2162T>A (p.Val721Glu) c.2015T>A (p.Val672Glu) | dbSNP |
| 21 | g.43416933C>A | CA321324384 | SIK1 | c.2161G>T (p.Val721Leu) c.2014G>T (p.Val672Leu) | ClinVar dbSNP |
| 21 | g.43416933C= | CA2391216242 | SIK1 | c.2161G= (p.Val721=) c.2014G= (p.Val672=) | |
| 21 | g.43416933C>G | CA410606541 | SIK1 | c.2161G>C (p.Val721Leu) c.2014G>C (p.Val672Leu) | |
| 21 | g.43416933C>T | CA410606542 | SIK1 | c.2161G>A (p.Val721Met) c.2014G>A (p.Val672Met) | ClinVar dbSNP |
| 21 | g.43416934C>A | CA321324388 | SIK1 | c.2160G>T (p.Pro720=) c.2013G>T (p.Pro671=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416934C= | CA2391216244 | SIK1 | c.2160G= (p.Pro720=) c.2013G= (p.Pro671=) | |
| 21 | g.43416934C>G | CA749584815 | SIK1 | c.2160G>C (p.Pro720=) c.2013G>C (p.Pro671=) | dbSNP |
| 21 | g.43416934C>T | CA749584817 | SIK1 | c.2160G>A (p.Pro720=) c.2013G>A (p.Pro671=) | ClinVar dbSNP |
| 21 | g.43416934_43416935delinsCG | CA2391216243 | SIK1 | c.2159_2160delinsCG (p.Pro720=) c.2012_2013delinsCG (p.Pro671=) | |
| 21 | g.43416935G>A | CA321324392 | SIK1 | c.2159C>T (p.Pro720Leu) c.2012C>T (p.Pro671Leu) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416935G>C | CA410606543 | SIK1 | c.2159C>G (p.Pro720Arg) c.2012C>G (p.Pro671Arg) | |
| 21 | g.43416935G= | CA2391216246 | SIK1 | c.2159C= (p.Pro720=) c.2012C= (p.Pro671=) | |
| 21 | g.43416935G>T | CA410606544 | SIK1 | c.2159C>A (p.Pro720Gln) c.2012C>A (p.Pro671Gln) | |
| 21 | g.43416938del | CA2391216245 | SIK1 | c.2159del (p.Pro720ArgfsTer?) c.2012del (p.Pro671ArgfsTer?) | dbSNP |
| 21 | g.43416936G>A | CA321324395 | SIK1 | c.2158C>T (p.Pro720Ser) c.2011C>T (p.Pro671Ser) | dbSNP |
| 21 | g.43416936G>C | CA410606545 | SIK1 | c.2158C>G (p.Pro720Ala) c.2011C>G (p.Pro671Ala) | |
| 21 | g.43416936G= | CA2391216247 | SIK1 | c.2158C= (p.Pro720=) c.2011C= (p.Pro671=) | |
| 21 | g.43416936G>T | CA410606546 | SIK1 | c.2158C>A (p.Pro720Thr) c.2011C>A (p.Pro671Thr) | |
| 21 | g.43416937G>A | CA749584822 | SIK1 | c.2157C>T (p.Ser719=) c.2010C>T (p.Ser670=) | dbSNP |
| 21 | g.43416937G= | CA2391216248 | SIK1 | c.2157C= (p.Ser719=) c.2010C= (p.Ser670=) | |
| 21 | g.43416938G>A | CA410606548 | SIK1 | c.2156C>T (p.Ser719Phe) c.2009C>T (p.Ser670Phe) | gnomAD v4 |
| 21 | g.43416938G>C | CA410606549 | SIK1 | c.2156C>G (p.Ser719Cys) c.2009C>G (p.Ser670Cys) | |
| 21 | g.43416938G>T | CA410606547 | SIK1 | c.2156C>A (p.Ser719Tyr) c.2009C>A (p.Ser670Tyr) | |
| 21 | g.43416939A>C | CA410606550 | SIK1 | c.2155T>G (p.Ser719Ala) c.2008T>G (p.Ser670Ala) | |
| 21 | g.43416939A>G | CA410606551 | SIK1 | c.2155T>C (p.Ser719Pro) c.2008T>C (p.Ser670Pro) | |
| 21 | g.43416939A>T | CA410606552 | SIK1 | c.2155T>A (p.Ser719Thr) c.2008T>A (p.Ser670Thr) | |
| 21 | g.43416939_43416941delinsACG | CA2391216249 | SIK1 | c.2153_2155delinsCGT (p.Ala718=) c.2006_2008delinsCGT (p.Ala669=) | |
| 21 | g.43416940C= | CA2391216251 | SIK1 | c.2154G= (p.Ala718=) c.2007G= (p.Ala669=) | |
| 21 | g.43416940C>T | CA321324398 | SIK1 | c.2154G>A (p.Ala718=) c.2007G>A (p.Ala669=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416943_43416944del | CA2391216250 | SIK1 | c.2153_2154del (p.Ala718ValfsTer?) c.2006_2007del (p.Ala669ValfsTer?) | dbSNP |
| 21 | g.43416941G>A | CA321324401 | SIK1 | c.2153C>T (p.Ala718Val) c.2006C>T (p.Ala669Val) | ClinVar dbSNP |
| 21 | g.43416941G>C | CA410606553 | SIK1 | c.2153C>G (p.Ala718Gly) c.2006C>G (p.Ala669Gly) | |
| 21 | g.43416941G= | CA2391216252 | SIK1 | c.2153C= (p.Ala718=) c.2006C= (p.Ala669=) | |
| 21 | g.43416941G>T | CA410606554 | SIK1 | c.2153C>A (p.Ala718Glu) c.2006C>A (p.Ala669Glu) | |
| 21 | g.43416942C>A | CA410606555 | SIK1 | c.2152G>T (p.Ala718Ser) c.2005G>T (p.Ala669Ser) | |
| 21 | g.43416942C= | CA2391216253 | SIK1 | c.2152G= (p.Ala718=) c.2005G= (p.Ala669=) | |
| 21 | g.43416942C>G | CA410606556 | SIK1 | c.2152G>C (p.Ala718Pro) c.2005G>C (p.Ala669Pro) | |
| 21 | g.43416942C>T | CA321324406 | SIK1 | c.2152G>A (p.Ala718Thr) c.2005G>A (p.Ala669Thr) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416943G>A | CA321324409 | SIK1 | c.2151C>T (p.Gly717=) c.2004C>T (p.Gly668=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416943G>C | CA2499225949 | SIK1 | c.2151C>G (p.Gly717=) c.2004C>G (p.Gly668=) | ClinVar dbSNP |
| 21 | g.43416943G= | CA2391216254 | SIK1 | c.2151C= (p.Gly717=) c.2004C= (p.Gly668=) | |
| 21 | g.43416944C>A | CA410606557 | SIK1 | c.2150G>T (p.Gly717Val) c.2003G>T (p.Gly668Val) | |
| 21 | g.43416944C>G | CA410606558 | SIK1 | c.2150G>C (p.Gly717Ala) c.2003G>C (p.Gly668Ala) | |
| 21 | g.43416944C>T | CA410606559 | SIK1 | c.2150G>A (p.Gly717Asp) c.2003G>A (p.Gly668Asp) | |
| 21 | g.43416945C>A | CA410606560 | SIK1 | c.2149G>T (p.Gly717Cys) c.2002G>T (p.Gly668Cys) | |
| 21 | g.43416945C= | CA2391216255 | SIK1 | c.2149G= (p.Gly717=) c.2002G= (p.Gly668=) | |
| 21 | g.43416945C>G | CA410606561 | SIK1 | c.2149G>C (p.Gly717Arg) c.2002G>C (p.Gly668Arg) | |
| 21 | g.43416945C>T | CA321324414 | SIK1 | c.2149G>A (p.Gly717Ser) c.2002G>A (p.Gly668Ser) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416946G>A | CA321324417 | SIK1 | c.2148C>T (p.Thr716=) c.2001C>T (p.Thr667=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.43416946G>C | CA2739267695 | SIK1 | c.2148C>G (p.Thr716=) c.2001C>G (p.Thr667=) | ClinVar |
| 21 | g.43416946G= | CA2391216256 | SIK1 | c.2148C= (p.Thr716=) c.2001C= (p.Thr667=) | |
| 21 | g.43416947G>A | CA410606562 | SIK1 | c.2147C>T (p.Thr716Ile) c.2000C>T (p.Thr667Ile) | |
| 21 | g.43416947G>C | CA410606563 | SIK1 | c.2147C>G (p.Thr716Ser) c.2000C>G (p.Thr667Ser) | |
| 21 | g.43416947G>T | CA410606564 | SIK1 | c.2147C>A (p.Thr716Asn) c.2000C>A (p.Thr667Asn) | |
| 21 | g.43416948T>A | CA410606565 | SIK1 | c.2146A>T (p.Thr716Ser) c.1999A>T (p.Thr667Ser) | |
| 21 | g.43416948T>C | CA410606566 | SIK1 | c.2146A>G (p.Thr716Ala) c.1999A>G (p.Thr667Ala) | |
| 21 | g.43416948T>G | CA410606567 | SIK1 | c.2146A>C (p.Thr716Pro) c.1999A>C (p.Thr667Pro) | |
| 21 | g.43416949C>A | CA410606568 | SIK1 | c.2145G>T (p.Gln715His) c.1998G>T (p.Gln666His) | |
| 21 | g.43416949C>G | CA410606569 | SIK1 | c.2145G>C (p.Gln715His) c.1998G>C (p.Gln666His) | |
| 21 | g.43416950T>A | CA410606570 | SIK1 | c.2144A>T (p.Gln715Leu) c.1997A>T (p.Gln666Leu) | |
| 21 | g.43416950T>C | CA410606571 | SIK1 | c.2144A>G (p.Gln715Arg) c.1997A>G (p.Gln666Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.43416950T>G | CA410606572 | SIK1 | c.2144A>C (p.Gln715Pro) c.1997A>C (p.Gln666Pro) | |
| 21 | g.43416950T= | CA2391216257 | SIK1 | c.2144A= (p.Gln715=) c.1997A= (p.Gln666=) |