Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110780957del | CA596112229 | RBM20 | c.348del (p.Ala117ProfsTer4) c.-37del (n.-37del) c.183del (p.Ala62ProfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110780957C>A | CA471506383 | RBM20 | c.348C>A (p.Ala116=) c.-37C>A (n.-37C>A) c.183C>A (p.Ala61=) | |
10 | g.110780957C>G | CA471506384 | RBM20 | c.348C>G (p.Ala116=) c.-37C>G (n.-37C>G) c.183C>G (p.Ala61=) | |
10 | g.110780957C>T | CA5688504 | RBM20 | c.348C>T (p.Ala116=) c.-37C>T (n.-37C>T) c.183C>T (p.Ala61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780958G>A | CA213234582 | RBM20 | c.349G>A (p.Ala117Thr) c.-36G>A (n.-36G>A) c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780958G>C | CA378379711 | RBM20 | c.349G>C (p.Ala117Pro) c.-36G>C (n.-36G>C) c.184G>C (p.Ala62Pro) | |
10 | g.110780958G>T | CA213234587 | RBM20 | c.349G>T (p.Ala117Ser) c.-36G>T (n.-36G>T) c.184G>T (p.Ala62Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110780959C>A | CA378379712 | RBM20 | c.350C>A (p.Ala117Asp) c.-35C>A (n.-35C>A) c.185C>A (p.Ala62Asp) | |
10 | g.110780959C>G | CA378379713 | RBM20 | c.350C>G (p.Ala117Gly) c.-35C>G (n.-35C>G) c.185C>G (p.Ala62Gly) | |
10 | g.110780959C>T | CA213234591 | RBM20 | c.350C>T (p.Ala117Val) c.-35C>T (n.-35C>T) c.185C>T (p.Ala62Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110780960C>A | CA471506387 | RBM20 | c.351C>A (p.Ala117=) c.-34C>A (n.-34C>A) c.186C>A (p.Ala62=) | |
10 | g.110780960C>G | CA471506389 | RBM20 | c.351C>G (p.Ala117=) c.-34C>G (n.-34C>G) c.186C>G (p.Ala62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110780960C>T | CA471506391 | RBM20 | c.351C>T (p.Ala117=) c.-34C>T (n.-34C>T) c.186C>T (p.Ala62=) | |
10 | g.110780961A>C | CA378379716 | RBM20 | c.352A>C (p.Thr118Pro) c.-33A>C (n.-33A>C) c.187A>C (p.Thr63Pro) | |
10 | g.110780961A>G | CA10582700 | RBM20 | c.352A>G (p.Thr118Ala) c.-33A>G (n.-33A>G) c.187A>G (p.Thr63Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110780961A>T | CA378379719 | RBM20 | c.352A>T (p.Thr118Ser) c.-33A>T (n.-33A>T) c.187A>T (p.Thr63Ser) | |
10 | g.110780962C>A | CA378379722 | RBM20 | c.353C>A (p.Thr118Lys) c.-32C>A (n.-32C>A) c.188C>A (p.Thr63Lys) | gnomAD v4 |
10 | g.110780962C>G | CA378379724 | RBM20 | c.353C>G (p.Thr118Arg) c.-32C>G (n.-32C>G) c.188C>G (p.Thr63Arg) | |
10 | g.110780962C>T | CA378379727 | RBM20 | c.353C>T (p.Thr118Ile) c.-32C>T (n.-32C>T) c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
10 | g.110780963A>C | CA471506392 | RBM20 | c.354A>C (p.Thr118=) c.-31A>C (n.-31A>C) c.189A>C (p.Thr63=) | gnomAD v4 |
10 | g.110780963A>G | CA471506393 | RBM20 | c.354A>G (p.Thr118=) c.-31A>G (n.-31A>G) c.189A>G (p.Thr63=) | |
10 | g.110780963A>T | CA471506394 | RBM20 | c.354A>T (p.Thr118=) c.-31A>T (n.-31A>T) c.189A>T (p.Thr63=) | |
10 | g.110780964G>A | CA378379738 | RBM20 | c.355G>A (p.Val119Ile) c.-30G>A (n.-30G>A) c.190G>A (p.Val64Ile) | |
10 | g.110780964G>C | CA378379742 | RBM20 | c.355G>C (p.Val119Leu) c.-30G>C (n.-30G>C) c.190G>C (p.Val64Leu) | |
10 | g.110780964G>T | CA378379746 | RBM20 | c.355G>T (p.Val119Phe) c.-30G>T (n.-30G>T) c.190G>T (p.Val64Phe) | gnomAD v4 |
10 | g.110780965T>A | CA378379749 | RBM20 | c.356T>A (p.Val119Asp) c.-29T>A (n.-29T>A) c.191T>A (p.Val64Asp) | |
10 | g.110780965T>C | CA378379752 | RBM20 | c.356T>C (p.Val119Ala) c.-29T>C (n.-29T>C) c.191T>C (p.Val64Ala) | dbSNP gnomAD v2 |
10 | g.110780965T>G | CA378379755 | RBM20 | c.356T>G (p.Val119Gly) c.-29T>G (n.-29T>G) c.191T>G (p.Val64Gly) | |
10 | g.110780966C>A | CA471506397 | RBM20 | c.357C>A (p.Val119=) c.-28C>A (n.-28C>A) c.192C>A (p.Val64=) | |
10 | g.110780966C>G | CA471506398 | RBM20 | c.357C>G (p.Val119=) c.-28C>G (n.-28C>G) c.192C>G (p.Val64=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110780966C>T | CA471506400 | RBM20 | c.357C>T (p.Val119=) c.-28C>T (n.-28C>T) c.192C>T (p.Val64=) | |
10 | g.110780967C>A | CA378379766 | RBM20 | c.358C>A (p.Leu120Met) c.-27C>A (n.-27C>A) c.193C>A (p.Leu65Met) | |
10 | g.110780967C>G | CA378379769 | RBM20 | c.358C>G (p.Leu120Val) c.-27C>G (n.-27C>G) c.193C>G (p.Leu65Val) | |
10 | g.110780967C>T | CA471506403 | RBM20 | c.358C>T (p.Leu120=) c.-27C>T (n.-27C>T) c.193C>T (p.Leu65=) | |
10 | g.110780968del | CA596112230 | RBM20 | c.359del (p.Leu120ArgfsTer18) c.-26del (n.-26del) c.194del (p.Leu65ArgfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780968T>A | CA378379781 | RBM20 | c.359T>A (p.Leu120Gln) c.-26T>A (n.-26T>A) c.194T>A (p.Leu65Gln) | |
10 | g.110780968T>C | CA378379777 | RBM20 | c.359T>C (p.Leu120Pro) c.-26T>C (n.-26T>C) c.194T>C (p.Leu65Pro) | COSMIC |
10 | g.110780968T>G | CA378379773 | RBM20 | c.359T>G (p.Leu120Arg) c.-26T>G (n.-26T>G) c.194T>G (p.Leu65Arg) | |
10 | g.110780969G>A | CA471506404 | RBM20 | c.360G>A (p.Leu120=) c.-25G>A (n.-25G>A) c.195G>A (p.Leu65=) | |
10 | g.110780969G>C | CA471506405 | RBM20 | c.360G>C (p.Leu120=) c.-25G>C (n.-25G>C) c.195G>C (p.Leu65=) | |
10 | g.110780969G>T | CA471506406 | RBM20 | c.360G>T (p.Leu120=) c.-25G>T (n.-25G>T) c.195G>T (p.Leu65=) | |
10 | g.110780970A>C | CA378379783 | RBM20 | c.361A>C (p.Asn121His) c.-24A>C (n.-24A>C) c.196A>C (p.Asn66His) | |
10 | g.110780970A>G | CA378379796 | RBM20 | c.361A>G (p.Asn121Asp) c.-24A>G (n.-24A>G) c.196A>G (p.Asn66Asp) | |
10 | g.110780970A>T | CA378379787 | RBM20 | c.361A>T (p.Asn121Tyr) c.-24A>T (n.-24A>T) c.196A>T (p.Asn66Tyr) | |
10 | g.110780971A>C | CA378379800 | RBM20 | c.362A>C (p.Asn121Thr) c.-23A>C (n.-23A>C) c.197A>C (p.Asn66Thr) | |
10 | g.110780971A>G | CA378379801 | RBM20 | c.362A>G (p.Asn121Ser) c.-23A>G (n.-23A>G) c.197A>G (p.Asn66Ser) | dbSNP gnomAD v4 |
10 | g.110780971A>T | CA378379803 | RBM20 | c.362A>T (p.Asn121Ile) c.-23A>T (n.-23A>T) c.197A>T (p.Asn66Ile) | |
10 | g.110780972C>A | CA378379804 | RBM20 | c.363C>A (p.Asn121Lys) c.-22C>A (n.-22C>A) c.198C>A (p.Asn66Lys) | |
10 | g.110780972C>G | CA378379807 | RBM20 | c.363C>G (p.Asn121Lys) c.-22C>G (n.-22C>G) c.198C>G (p.Asn66Lys) | ClinVar dbSNP gnomAD v4 |
10 | g.110780972C>T | CA184615 | RBM20 | c.363C>T (p.Asn121=) c.-22C>T (n.-22C>T) c.198C>T (p.Asn66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |