| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.44951948G>A | CA114719 | SETBP1 | c.2608G>A (p.Gly870Ser) c.2686G>A (p.Gly896Ser) c.2131G>A (p.Gly711Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.44951948G>C | CA402321816 | SETBP1 | c.2608G>C (p.Gly870Arg) c.2686G>C (p.Gly896Arg) c.2131G>C (p.Gly711Arg) | COSMIC |
| 18 | g.44951948G= | CA2300140785 | SETBP1 | c.2608G= (p.Gly870=) c.2686G= (p.Gly896=) c.2131G= (p.Gly711=) | |
| 18 | g.44951948G>T | CA402321815 | SETBP1 | c.2608G>T (p.Gly870Cys) c.2686G>T (p.Gly896Cys) c.2131G>T (p.Gly711Cys) | |
| 18 | g.44951949G>A | CA114718 | SETBP1 | c.2609G>A (p.Gly870Asp) c.2687G>A (p.Gly896Asp) c.2132G>A (p.Gly711Asp) | ClinVar dbSNP |
| 18 | g.44951949G>C | CA402321818 | SETBP1 | c.2609G>C (p.Gly870Ala) c.2687G>C (p.Gly896Ala) c.2132G>C (p.Gly711Ala) | |
| 18 | g.44951949G= | CA2300140786 | SETBP1 | c.2609G= (p.Gly870=) c.2687G= (p.Gly896=) c.2132G= (p.Gly711=) | |
| 18 | g.44951949G>T | CA402321817 | SETBP1 | c.2609G>T (p.Gly870Val) c.2687G>T (p.Gly896Val) c.2132G>T (p.Gly711Val) | dbSNP |
| 18 | g.44951950C>A | CA503982138 | SETBP1 | c.2610C>A (p.Gly870=) c.2688C>A (p.Gly896=) c.2133C>A (p.Gly711=) | |
| 18 | g.44951950C>G | CA503982139 | SETBP1 | c.2610C>G (p.Gly870=) c.2688C>G (p.Gly896=) c.2133C>G (p.Gly711=) | |
| 18 | g.44951950C>T | CA503982140 | SETBP1 | c.2610C>T (p.Gly870=) c.2688C>T (p.Gly896=) c.2133C>T (p.Gly711=) | |
| 18 | g.44951951A>C | CA402321819 | SETBP1 | c.2611A>C (p.Ile871Leu) c.2689A>C (p.Ile897Leu) c.2134A>C (p.Ile712Leu) | |
| 18 | g.44951951A>G | CA402321820 | SETBP1 | c.2611A>G (p.Ile871Val) c.2689A>G (p.Ile897Val) c.2134A>G (p.Ile712Val) | |
| 18 | g.44951951A>T | CA402321821 | SETBP1 | c.2611A>T (p.Ile871Phe) c.2689A>T (p.Ile897Phe) c.2134A>T (p.Ile712Phe) | |
| 18 | g.44951952T>A | CA402321822 | SETBP1 | c.2612T>A (p.Ile871Asn) c.2690T>A (p.Ile897Asn) c.2135T>A (p.Ile712Asn) | |
| 18 | g.44951952T>C | CA114715 | SETBP1 | c.2612T>C (p.Ile871Thr) c.2690T>C (p.Ile897Thr) c.2135T>C (p.Ile712Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.44951952T>G | CA402321823 | SETBP1 | c.2612T>G (p.Ile871Ser) c.2690T>G (p.Ile897Ser) c.2135T>G (p.Ile712Ser) | ClinVar dbSNP |
| 18 | g.44951952T= | CA2300140787 | SETBP1 | c.2612T= (p.Ile871=) c.2690T= (p.Ile897=) c.2135T= (p.Ile712=) | |
| 18 | g.44951953T>A | CA503982142 | SETBP1 | c.2613T>A (p.Ile871=) c.2691T>A (p.Ile897=) c.2136T>A (p.Ile712=) | |
| 18 | g.44951953T>C | CA503982143 | SETBP1 | c.2613T>C (p.Ile871=) c.2691T>C (p.Ile897=) c.2136T>C (p.Ile712=) | COSMIC |
| 18 | g.44951953T>G | CA402321824 | SETBP1 | c.2613T>G (p.Ile871Met) c.2691T>G (p.Ile897Met) c.2136T>G (p.Ile712Met) | |
| 18 | g.44951953T= | CA2300140788 | SETBP1 | c.2613T= (p.Ile871=) c.2691T= (p.Ile897=) c.2136T= (p.Ile712=) | |
| 18 | g.44951954G>A | CA402321825 | SETBP1 | c.2614G>A (p.Gly872Arg) c.2692G>A (p.Gly898Arg) c.2137G>A (p.Gly713Arg) | ClinVar dbSNP |
| 18 | g.44951954G>C | CA402321826 | SETBP1 | c.2614G>C (p.Gly872Arg) c.2692G>C (p.Gly898Arg) c.2137G>C (p.Gly713Arg) | |
| 18 | g.44951954G= | CA2300140789 | SETBP1 | c.2614G= (p.Gly872=) c.2692G= (p.Gly898=) c.2137G= (p.Gly713=) | |
| 18 | g.44951954G>T | CA402321827 | SETBP1 | c.2614G>T (p.Gly872Trp) c.2692G>T (p.Gly898Trp) c.2137G>T (p.Gly713Trp) | |
| 18 | g.44951956dup | CA299698615 | SETBP1 | c.2616dup (p.Thr873AspfsTer8) c.2694dup (p.Thr899AspfsTer8) c.2139dup (p.Thr714AspfsTer8) | dbSNP |
| 18 | g.44951955G>A | CA402321830 | SETBP1 | c.2615G>A (p.Gly872Glu) c.2693G>A (p.Gly898Glu) c.2138G>A (p.Gly713Glu) | |
| 18 | g.44951955G>C | CA402321829 | SETBP1 | c.2615G>C (p.Gly872Ala) c.2693G>C (p.Gly898Ala) c.2138G>C (p.Gly713Ala) | |
| 18 | g.44951955G>T | CA402321828 | SETBP1 | c.2615G>T (p.Gly872Val) c.2693G>T (p.Gly898Val) c.2138G>T (p.Gly713Val) | |
| 18 | g.44951956G>A | CA503982146 | SETBP1 | c.2616G>A (p.Gly872=) c.2694G>A (p.Gly898=) c.2139G>A (p.Gly713=) | ClinVar |
| 18 | g.44951956G>C | CA299698620 | SETBP1 | c.2616G>C (p.Gly872=) c.2694G>C (p.Gly898=) c.2139G>C (p.Gly713=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44951956G= | CA2300140790 | SETBP1 | c.2616G= (p.Gly872=) c.2694G= (p.Gly898=) c.2139G= (p.Gly713=) | |
| 18 | g.44951956G>T | CA503982147 | SETBP1 | c.2616G>T (p.Gly872=) c.2694G>T (p.Gly898=) c.2139G>T (p.Gly713=) | |
| 18 | g.44951957A>C | CA402321831 | SETBP1 | c.2617A>C (p.Thr873Pro) c.2695A>C (p.Thr899Pro) c.2140A>C (p.Thr714Pro) | |
| 18 | g.44951957A>G | CA402321832 | SETBP1 | c.2617A>G (p.Thr873Ala) c.2695A>G (p.Thr899Ala) c.2140A>G (p.Thr714Ala) | |
| 18 | g.44951957A>T | CA402321833 | SETBP1 | c.2617A>T (p.Thr873Ser) c.2695A>T (p.Thr899Ser) c.2140A>T (p.Thr714Ser) | |
| 18 | g.44951958C>A | CA402321834 | SETBP1 | c.2618C>A (p.Thr873Lys) c.2696C>A (p.Thr899Lys) c.2141C>A (p.Thr714Lys) | |
| 18 | g.44951958C>G | CA402321835 | SETBP1 | c.2618C>G (p.Thr873Arg) c.2696C>G (p.Thr899Arg) c.2141C>G (p.Thr714Arg) | COSMIC |
| 18 | g.44951958C>T | CA402321836 | SETBP1 | c.2618C>T (p.Thr873Ile) c.2696C>T (p.Thr899Ile) c.2141C>T (p.Thr714Ile) | |
| 18 | g.44951959A>C | CA503982150 | SETBP1 | c.2619A>C (p.Thr873=) c.2697A>C (p.Thr899=) c.2142A>C (p.Thr714=) | |
| 18 | g.44951959A>G | CA503982152 | SETBP1 | c.2619A>G (p.Thr873=) c.2697A>G (p.Thr899=) c.2142A>G (p.Thr714=) | gnomAD v4 |
| 18 | g.44951959A>T | CA503982154 | SETBP1 | c.2619A>T (p.Thr873=) c.2697A>T (p.Thr899=) c.2142A>T (p.Thr714=) | |
| 18 | g.44951960G>A | CA402321837 | SETBP1 | c.2620G>A (p.Asp874Asn) c.2698G>A (p.Asp900Asn) c.2143G>A (p.Asp715Asn) | |
| 18 | g.44951960G>C | CA402321838 | SETBP1 | c.2620G>C (p.Asp874His) c.2698G>C (p.Asp900His) c.2143G>C (p.Asp715His) | |
| 18 | g.44951960G>T | CA402321839 | SETBP1 | c.2620G>T (p.Asp874Tyr) c.2698G>T (p.Asp900Tyr) c.2143G>T (p.Asp715Tyr) | COSMIC |
| 18 | g.44951960_44951963delinsGACA | CA2300140791 | SETBP1 | c.2620_2623delinsGACA (p.Asp874=) c.2698_2701delinsGACA (p.Asp900=) c.2143_2146delinsGACA (p.Asp715=) | |
| 18 | g.44951961A= | CA2300140792 | SETBP1 | c.2621A= (p.Asp874=) c.2699A= (p.Asp900=) c.2144A= (p.Asp715=) | |
| 18 | g.44951961A>C | CA402321840 | SETBP1 | c.2621A>C (p.Asp874Ala) c.2699A>C (p.Asp900Ala) c.2144A>C (p.Asp715Ala) | |
| 18 | g.44951961A>G | CA402321841 | SETBP1 | c.2621A>G (p.Asp874Gly) c.2699A>G (p.Asp900Gly) c.2144A>G (p.Asp715Gly) | ClinVar dbSNP |