| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43417001G>A | CA321324477 | SIK1 | c.2093C>T (p.Pro698Leu) c.1946C>T (p.Pro649Leu) | ClinVar dbSNP |
| 21 | g.43417001G>C | CA410606668 | SIK1 | c.2093C>G (p.Pro698Arg) c.1946C>G (p.Pro649Arg) | |
| 21 | g.43417001G= | CA2391216280 | SIK1 | c.2093C= (p.Pro698=) c.1946C= (p.Pro649=) | |
| 21 | g.43417001G>T | CA410606669 | SIK1 | c.2093C>A (p.Pro698His) c.1946C>A (p.Pro649His) | |
| 21 | g.43417002G>A | CA410606670 | SIK1 | c.2092C>T (p.Pro698Ser) c.1945C>T (p.Pro649Ser) | dbSNP |
| 21 | g.43417002G>C | CA410606671 | SIK1 | c.2092C>G (p.Pro698Ala) c.1945C>G (p.Pro649Ala) | |
| 21 | g.43417002G= | CA2391216281 | SIK1 | c.2092C= (p.Pro698=) c.1945C= (p.Pro649=) | |
| 21 | g.43417002G>T | CA410606672 | SIK1 | c.2092C>A (p.Pro698Thr) c.1945C>A (p.Pro649Thr) | |
| 21 | g.43417003G>A | CA321324478 | SIK1 | c.2091C>T (p.Leu697=) c.1944C>T (p.Leu648=) | ClinVar dbSNP |
| 21 | g.43417003G= | CA2391216282 | SIK1 | c.2091C= (p.Leu697=) c.1944C= (p.Leu648=) | |
| 21 | g.43417004A>C | CA410606673 | SIK1 | c.2090T>G (p.Leu697Arg) c.1943T>G (p.Leu648Arg) | |
| 21 | g.43417004A>G | CA410606674 | SIK1 | c.2090T>C (p.Leu697Pro) c.1943T>C (p.Leu648Pro) | |
| 21 | g.43417004A>T | CA410606675 | SIK1 | c.2090T>A (p.Leu697His) c.1943T>A (p.Leu648His) | |
| 21 | g.43417005G>A | CA410606676 | SIK1 | c.2089C>T (p.Leu697Phe) c.1942C>T (p.Leu648Phe) | |
| 21 | g.43417005G>C | CA410606677 | SIK1 | c.2089C>G (p.Leu697Val) c.1942C>G (p.Leu648Val) | dbSNP |
| 21 | g.43417005G>T | CA410606678 | SIK1 | c.2089C>A (p.Leu697Ile) c.1942C>A (p.Leu648Ile) | dbSNP |
| 21 | g.43417006C= | CA2391216283 | SIK1 | c.2088G= (p.Pro696=) c.1941G= (p.Pro647=) | |
| 21 | g.43417006C>T | CA321324480 | SIK1 | c.2088G>A (p.Pro696=) c.1941G>A (p.Pro647=) | ClinVar dbSNP COSMIC |
| 21 | g.43417007G>A | CA16603199 | SIK1 | c.2087C>T (p.Pro696Leu) c.1940C>T (p.Pro647Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.43417007G>C | CA410606679 | SIK1 | c.2087C>G (p.Pro696Arg) c.1940C>G (p.Pro647Arg) | |
| 21 | g.43417007G= | CA2391216284 | SIK1 | c.2087C= (p.Pro696=) c.1940C= (p.Pro647=) | |
| 21 | g.43417007G>T | CA410606680 | SIK1 | c.2087C>A (p.Pro696Gln) c.1940C>A (p.Pro647Gln) | |
| 21 | g.43417008G>A | CA321324486 | SIK1 | c.2086C>T (p.Pro696Ser) c.1939C>T (p.Pro647Ser) | ClinVar dbSNP |
| 21 | g.43417008G>C | CA410606681 | SIK1 | c.2086C>G (p.Pro696Ala) c.1939C>G (p.Pro647Ala) | |
| 21 | g.43417008G= | CA2391216285 | SIK1 | c.2086C= (p.Pro696=) c.1939C= (p.Pro647=) | |
| 21 | g.43417008G>T | CA410606682 | SIK1 | c.2086C>A (p.Pro696Thr) c.1939C>A (p.Pro647Thr) | dbSNP |
| 21 | g.43417010G>A | CA410606683 | SIK1 | c.2084C>T (p.Ala695Val) c.1937C>T (p.Ala646Val) | ClinVar dbSNP |
| 21 | g.43417010G>C | CA410606684 | SIK1 | c.2084C>G (p.Ala695Gly) c.1937C>G (p.Ala646Gly) | |
| 21 | g.43417010G>T | CA410606685 | SIK1 | c.2084C>A (p.Ala695Asp) c.1937C>A (p.Ala646Asp) | |
| 21 | g.43417011C>A | CA410606686 | SIK1 | c.2083G>T (p.Ala695Ser) c.1936G>T (p.Ala646Ser) | gnomAD v4 |
| 21 | g.43417011C= | CA2391216286 | SIK1 | c.2083G= (p.Ala695=) c.1936G= (p.Ala646=) | |
| 21 | g.43417011C>G | CA321324490 | SIK1 | c.2083G>C (p.Ala695Pro) c.1936G>C (p.Ala646Pro) | ClinVar |
| 21 | g.43417011C>T | CA410606687 | SIK1 | c.2083G>A (p.Ala695Thr) c.1936G>A (p.Ala646Thr) | |
| 21 | g.43417013G>A | CA410606688 | SIK1 | c.2081C>T (p.Ala694Val) c.1934C>T (p.Ala645Val) | |
| 21 | g.43417013G>C | CA410606690 | SIK1 | c.2081C>G (p.Ala694Gly) c.1934C>G (p.Ala645Gly) | |
| 21 | g.43417013G>T | CA410606689 | SIK1 | c.2081C>A (p.Ala694Asp) c.1934C>A (p.Ala645Asp) | |
| 21 | g.43417014C>A | CA410606691 | SIK1 | c.2080G>T (p.Ala694Ser) c.1933G>T (p.Ala645Ser) | |
| 21 | g.43417014C= | CA2391216287 | SIK1 | c.2080G= (p.Ala694=) c.1933G= (p.Ala645=) | |
| 21 | g.43417014C>G | CA410606693 | SIK1 | c.2080G>C (p.Ala694Pro) c.1933G>C (p.Ala645Pro) | |
| 21 | g.43417014C>T | CA410606692 | SIK1 | c.2080G>A (p.Ala694Thr) c.1933G>A (p.Ala645Thr) | dbSNP |
| 21 | g.43417016C>A | CA410606694 | SIK1 | c.2078G>T (p.Gly693Val) c.1931G>T (p.Gly644Val) | |
| 21 | g.43417016C>G | CA410606695 | SIK1 | c.2078G>C (p.Gly693Ala) c.1931G>C (p.Gly644Ala) | |
| 21 | g.43417016C>T | CA410606696 | SIK1 | c.2078G>A (p.Gly693Glu) c.1931G>A (p.Gly644Glu) | |
| 21 | g.43417017C>A | CA410606697 | SIK1 | c.2077G>T (p.Gly693Trp) c.1930G>T (p.Gly644Trp) | |
| 21 | g.43417017C>G | CA410606698 | SIK1 | c.2077G>C (p.Gly693Arg) c.1930G>C (p.Gly644Arg) | |
| 21 | g.43417017C>T | CA410606699 | SIK1 | c.2077G>A (p.Gly693Arg) c.1930G>A (p.Gly644Arg) | |
| 21 | g.43417019G>A | CA410606700 | SIK1 | c.2075C>T (p.Pro692Leu) c.1928C>T (p.Pro643Leu) | |
| 21 | g.43417019G>C | CA410606701 | SIK1 | c.2075C>G (p.Pro692Arg) c.1928C>G (p.Pro643Arg) | |
| 21 | g.43417019G>T | CA410606702 | SIK1 | c.2075C>A (p.Pro692His) c.1928C>A (p.Pro643His) | |
| 21 | g.43417020G>A | CA410606703 | SIK1 | c.2074C>T (p.Pro692Ser) c.1927C>T (p.Pro643Ser) | dbSNP |