Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.159316731_159316741dup | CA2676264846 | IL12B | c.302_312dup (p.Tyr105ArgfsTer21) c.*427_*437dup (n.*427_*437dup) c.932_942dup (p.Tyr315ArgfsTer21) | gnomAD v4 |
5 | g.159316738C>A | CA362029347 | IL12B | c.304G>T (p.Asp102Tyr) c.*429G>T (n.*429G>T) c.934G>T (p.Asp312Tyr) | gnomAD v4 |
5 | g.159316738C= | CA1595046018 | IL12B | c.304G= (p.Asp102=) c.*429G= (n.*429G=) c.934G= (p.Asp312=) | |
5 | g.159316738C>G | CA362029349 | IL12B | c.304G>C (p.Asp102His) c.*429G>C (n.*429G>C) c.934G>C (p.Asp312His) | |
5 | g.159316738C>T | CA362029351 | IL12B | c.304G>A (p.Asp102Asn) c.*429G>A (n.*429G>A) c.934G>A (p.Asp312Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.159316739C>A | CA362029354 | IL12B | c.303G>T (p.Gln101His) c.*428G>T (n.*428G>T) c.933G>T (p.Gln311His) | |
5 | g.159316739C= | CA1595046019 | IL12B | c.303G= (p.Gln101=) c.*428G= (n.*428G=) c.933G= (p.Gln311=) | |
5 | g.159316739C>G | CA3538663 | IL12B | c.303G>C (p.Gln101His) c.*428G>C (n.*428G>C) c.933G>C (p.Gln311His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.159316739C>T | CA3538662 | IL12B | c.303G>A (p.Gln101=) c.*428G>A (n.*428G>A) c.933G>A (p.Gln311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.159316740T>A | CA362029358 | IL12B | c.302A>T (p.Gln101Leu) c.*427A>T (n.*427A>T) c.932A>T (p.Gln311Leu) | |
5 | g.159316740T>C | CA362029359 | IL12B | c.302A>G (p.Gln101Arg) c.*427A>G (n.*427A>G) c.932A>G (p.Gln311Arg) | |
5 | g.159316740T>G | CA362029360 | IL12B | c.302A>C (p.Gln101Pro) c.*427A>C (n.*427A>C) c.932A>C (p.Gln311Pro) | |
5 | g.159316741G>A | CA362029366 | IL12B | c.301C>T (p.Gln101Ter) c.*426C>T (n.*426C>T) c.931C>T (p.Gln311Ter) | gnomAD v4 |
5 | g.159316741G>C | CA362029361 | IL12B | c.301C>G (p.Gln101Glu) c.*426C>G (n.*426C>G) c.931C>G (p.Gln311Glu) | |
5 | g.159316741G>T | CA362029364 | IL12B | c.301C>A (p.Gln101Lys) c.*426C>A (n.*426C>A) c.931C>A (p.Gln311Lys) | |
5 | g.159316742G>A | CA447508228 | IL12B | c.300C>T (p.Ala100=) c.*425C>T (n.*425C>T) c.930C>T (p.Ala310=) | |
5 | g.159316742G>C | CA447508227 | IL12B | c.300C>G (p.Ala100=) c.*425C>G (n.*425C>G) c.930C>G (p.Ala310=) | |
5 | g.159316742G>T | CA447508226 | IL12B | c.300C>A (p.Ala100=) c.*425C>A (n.*425C>A) c.930C>A (p.Ala310=) | |
5 | g.159316743G>A | CA362029369 | IL12B | c.299C>T (p.Ala100Val) c.*424C>T (n.*424C>T) c.929C>T (p.Ala310Val) | |
5 | g.159316743G>C | CA362029371 | IL12B | c.299C>G (p.Ala100Gly) c.*424C>G (n.*424C>G) c.929C>G (p.Ala310Gly) | |
5 | g.159316743G>T | CA362029373 | IL12B | c.299C>A (p.Ala100Asp) c.*424C>A (n.*424C>A) c.929C>A (p.Ala310Asp) | |
5 | g.159316744C>A | CA362029377 | IL12B | c.298G>T (p.Ala100Ser) c.*423G>T (n.*423G>T) c.928G>T (p.Ala310Ser) | gnomAD v4 |
5 | g.159316744C>G | CA362029379 | IL12B | c.298G>C (p.Ala100Pro) c.*423G>C (n.*423G>C) c.928G>C (p.Ala310Pro) | |
5 | g.159316744C>T | CA362029381 | IL12B | c.298G>A (p.Ala100Thr) c.*423G>A (n.*423G>A) c.928G>A (p.Ala310Thr) | |
5 | g.159316745C>A | CA447508229 | IL12B | c.297G>T (p.Arg99=) c.*422G>T (n.*422G>T) c.927G>T (p.Arg309=) | dbSNP gnomAD v4 |
5 | g.159316745C= | CA1595046020 | IL12B | c.297G= (p.Arg99=) c.*422G= (n.*422G=) c.927G= (p.Arg309=) | |
5 | g.159316745C>G | CA447508231 | IL12B | c.297G>C (p.Arg99=) c.*422G>C (n.*422G>C) c.927G>C (p.Arg309=) | |
5 | g.159316745C>T | CA447508230 | IL12B | c.297G>A (p.Arg99=) c.*422G>A (n.*422G>A) c.927G>A (p.Arg309=) | gnomAD v4 |
5 | g.159316746C>A | CA362029383 | IL12B | c.296G>T (p.Arg99Leu) c.*421G>T (n.*421G>T) c.926G>T (p.Arg309Leu) | dbSNP gnomAD v2 |
5 | g.159316746C= | CA1595046021 | IL12B | c.296G= (p.Arg99=) c.*421G= (n.*421G=) c.926G= (p.Arg309=) | |
5 | g.159316746C>G | CA362029385 | IL12B | c.296G>C (p.Arg99Pro) c.*421G>C (n.*421G>C) c.926G>C (p.Arg309Pro) | |
5 | g.159316746C>T | CA362029386 | IL12B | c.296G>A (p.Arg99Gln) c.*421G>A (n.*421G>A) c.926G>A (p.Arg309Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.159316747G>A | CA3538665 | IL12B | c.295C>T (p.Arg99Trp) c.*420C>T (n.*420C>T) c.925C>T (p.Arg309Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.159316747G>C | CA362029387 | IL12B | c.295C>G (p.Arg99Gly) c.*420C>G (n.*420C>G) c.925C>G (p.Arg309Gly) | |
5 | g.159316747G= | CA1595046022 | IL12B | c.295C= (p.Arg99=) c.*420C= (n.*420C=) c.925C= (p.Arg309=) | |
5 | g.159316747G>T | CA3538664 | IL12B | c.295C>A (p.Arg99=) c.*420C>A (n.*420C>A) c.925C>A (p.Arg309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.159316748C>A | CA447508232 | IL12B | c.294G>T (p.Val98=) c.*419G>T (n.*419G>T) c.924G>T (p.Val308=) | |
5 | g.159316748C= | CA1595046023 | IL12B | c.294G= (p.Val98=) c.*419G= (n.*419G=) c.924G= (p.Val308=) | |
5 | g.159316748C>G | CA447508233 | IL12B | c.294G>C (p.Val98=) c.*419G>C (n.*419G>C) c.924G>C (p.Val308=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.159316748C>T | CA447508234 | IL12B | c.294G>A (p.Val98=) c.*419G>A (n.*419G>A) c.924G>A (p.Val308=) | gnomAD v4 |
5 | g.159316749A= | CA1595046024 | IL12B | c.293T= (p.Val98=) c.*418T= (n.*418T=) c.923T= (p.Val308=) | |
5 | g.159316749A>C | CA362029391 | IL12B | c.293T>G (p.Val98Gly) c.*418T>G (n.*418T>G) c.923T>G (p.Val308Gly) | |
5 | g.159316749A>G | CA362029389 | IL12B | c.293T>C (p.Val98Ala) c.*418T>C (n.*418T>C) c.923T>C (p.Val308Ala) | dbSNP |
5 | g.159316749A>T | CA362029388 | IL12B | c.293T>A (p.Val98Glu) c.*418T>A (n.*418T>A) c.923T>A (p.Val308Glu) | |
5 | g.159316750C>A | CA3538666 | IL12B | c.292G>T (p.Val98Leu) c.*417G>T (n.*417G>T) c.922G>T (p.Val308Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.159316750C= | CA1595046025 | IL12B | c.292G= (p.Val98=) c.*417G= (n.*417G=) c.922G= (p.Val308=) | |
5 | g.159316750C>G | CA362029393 | IL12B | c.292G>C (p.Val98Leu) c.*417G>C (n.*417G>C) c.922G>C (p.Val308Leu) | dbSNP |
5 | g.159316750C>T | CA362029394 | IL12B | c.292G>A (p.Val98Met) c.*417G>A (n.*417G>A) c.922G>A (p.Val308Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.159316751G>A | CA3538667 | IL12B | c.291C>T (p.Ser97=) c.*416C>T (n.*416C>T) c.921C>T (p.Ser307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.159316751G>C | CA362029397 | IL12B | c.291C>G (p.Ser97Arg) c.*416C>G (n.*416C>G) c.921C>G (p.Ser307Arg) |