| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |