| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | ClinVar |
| 1 | g.17028628T>A | CA338274150 | SDHB | c.224A>T (p.His75Leu) c.353A>T (p.His118Leu) c.395A>T (p.His132Leu) n.312A>T n.357+26A>T | gnomAD v4 |
| 1 | g.17028628T>C | CA16609937 | SDHB | c.224A>G (p.His75Arg) c.353A>G (p.His118Arg) c.395A>G (p.His132Arg) n.312A>G n.357+26A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028628T>G | CA015817 | SDHB | c.224A>C (p.His75Pro) c.353A>C (p.His118Pro) c.395A>C (p.His132Pro) n.312A>C n.357+26A>C | ClinVar dbSNP |
| 1 | g.17028628T= | CA1140886355 | SDHB | c.224A= (p.His75=) c.353A= (p.His118=) c.395A= (p.His132=) n.312A= n.357+26A= | |
| 1 | g.17028629G>A | CA338274207 | SDHB | c.223C>T (p.His75Tyr) c.352C>T (p.His118Tyr) c.394C>T (p.His132Tyr) n.311C>T n.357+25C>T | |
| 1 | g.17028629G>C | CA338274209 | SDHB | c.223C>G (p.His75Asp) c.352C>G (p.His118Asp) c.394C>G (p.His132Asp) n.311C>G n.357+25C>G | |
| 1 | g.17028629G>T | CA338274211 | SDHB | c.223C>A (p.His75Asn) c.352C>A (p.His118Asn) c.394C>A (p.His132Asn) n.311C>A n.357+25C>A | |
| 1 | g.17028630del | CA2586966131 | SDHB | c.222del (p.His75ThrfsTer4) c.351del (p.His118ThrfsTer4) c.393del (p.His132ThrfsTer4) n.310del n.357+24del | |
| 1 | g.17028630T>A | CA416087581 | SDHB | c.222A>T (p.Pro74=) c.351A>T (p.Pro117=) c.393A>T (p.Pro131=) n.310A>T n.357+24A>T | |
| 1 | g.17028630T>C | CA416087582 | SDHB | c.222A>G (p.Pro74=) c.351A>G (p.Pro117=) c.393A>G (p.Pro131=) n.310A>G n.357+24A>G | ClinVar gnomAD v4 |
| 1 | g.17028630T>G | CA416087583 | SDHB | c.222A>C (p.Pro74=) c.351A>C (p.Pro117=) c.393A>C (p.Pro131=) n.310A>C n.357+24A>C | |
| 1 | g.17028630_17028631delinsTG | CA1156080489 | SDHB | c.221_222delinsCA (p.Pro74=) c.350_351delinsCA (p.Pro117=) c.392_393delinsCA (p.Pro131=) n.309_310delinsCA n.357+23_357+24delinsCA | |
| 1 | g.17028631G>A | CA338274230 | SDHB | c.221C>T (p.Pro74Leu) c.350C>T (p.Pro117Leu) c.392C>T (p.Pro131Leu) n.309C>T n.357+23C>T | ClinVar dbSNP |
| 1 | g.17028631G>C | CA338274223 | SDHB | c.221C>G (p.Pro74Arg) c.350C>G (p.Pro117Arg) c.392C>G (p.Pro131Arg) n.309C>G n.357+23C>G | |
| 1 | g.17028631G>T | CA338274215 | SDHB | c.221C>A (p.Pro74Gln) c.350C>A (p.Pro117Gln) c.392C>A (p.Pro131Gln) n.309C>A n.357+23C>A | |
| 1 | g.17028632del | CA645509069 | SDHB | c.221del (p.Pro74HisfsTer5) c.350del (p.Pro117HisfsTer5) c.392del (p.Pro131HisfsTer5) n.309del n.357+23del | ClinVar dbSNP |
| 1 | g.17028632G>A | CA338274233 | SDHB | c.220C>T (p.Pro74Ser) c.349C>T (p.Pro117Ser) c.391C>T (p.Pro131Ser) n.308C>T n.357+22C>T | COSMIC |
| 1 | g.17028632G>C | CA338274234 | SDHB | c.220C>G (p.Pro74Ala) c.349C>G (p.Pro117Ala) c.391C>G (p.Pro131Ala) n.308C>G n.357+22C>G | |
| 1 | g.17028632G>T | CA338274235 | SDHB | c.220C>A (p.Pro74Thr) c.349C>A (p.Pro117Thr) c.391C>A (p.Pro131Thr) n.308C>A n.357+22C>A | |
| 1 | g.17028633A>C | CA416087592 | SDHB | c.219T>G (p.Leu73=) c.348T>G (p.Leu116=) c.390T>G (p.Leu130=) n.307T>G n.357+21T>G | |
| 1 | g.17028633A>G | CA416087594 | SDHB | c.219T>C (p.Leu73=) c.348T>C (p.Leu116=) c.390T>C (p.Leu130=) n.307T>C n.357+21T>C | |
| 1 | g.17028633A>T | CA416087601 | SDHB | c.219T>A (p.Leu73=) c.348T>A (p.Leu116=) c.390T>A (p.Leu130=) n.307T>A n.357+21T>A | |
| 1 | g.17028634A= | CA1148278848 | SDHB | c.218T= (p.Leu73=) c.347T= (p.Leu116=) c.389T= (p.Leu130=) n.306T= n.357+20T= | |
| 1 | g.17028634A>C | CA338274236 | SDHB | c.218T>G (p.Leu73Arg) c.347T>G (p.Leu116Arg) c.389T>G (p.Leu130Arg) n.306T>G n.357+20T>G | |
| 1 | g.17028634A>G | CA089602 | SDHB | c.218T>C (p.Leu73Pro) c.347T>C (p.Leu116Pro) c.389T>C (p.Leu130Pro) n.306T>C n.357+20T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028634A>T | CA338274255 | SDHB | c.218T>A (p.Leu73His) c.347T>A (p.Leu116His) c.389T>A (p.Leu130His) n.306T>A n.357+20T>A | |
| 1 | g.17028635G>A | CA338274262 | SDHB | c.217C>T (p.Leu73Phe) c.346C>T (p.Leu116Phe) c.388C>T (p.Leu130Phe) n.305C>T n.357+19C>T | ClinVar dbSNP |
| 1 | g.17028635G>C | CA338274269 | SDHB | c.217C>G (p.Leu73Val) c.346C>G (p.Leu116Val) c.388C>G (p.Leu130Val) n.305C>G n.357+19C>G | |
| 1 | g.17028635G>T | CA338274266 | SDHB | c.217C>A (p.Leu73Ile) c.346C>A (p.Leu116Ile) c.388C>A (p.Leu130Ile) n.305C>A n.357+19C>A | |
| 1 | g.17028636A>C | CA416087615 | SDHB | c.216T>G (p.Pro72=) c.345T>G (p.Pro115=) c.387T>G (p.Pro129=) n.304T>G n.357+18T>G | |
| 1 | g.17028636A>G | CA416087613 | SDHB | c.216T>C (p.Pro72=) c.345T>C (p.Pro115=) c.387T>C (p.Pro129=) n.304T>C n.357+18T>C | |
| 1 | g.17028636A>T | CA416087614 | SDHB | c.216T>A (p.Pro72=) c.345T>A (p.Pro115=) c.387T>A (p.Pro129=) n.304T>A n.357+18T>A | |
| 1 | g.17028637G>A | CA338274280 | SDHB | c.215C>T (p.Pro72Leu) c.344C>T (p.Pro115Leu) c.386C>T (p.Pro129Leu) n.303C>T n.357+17C>T | gnomAD v4 |
| 1 | g.17028637G>C | CA015807 | SDHB | c.215C>G (p.Pro72Arg) c.344C>G (p.Pro115Arg) c.386C>G (p.Pro129Arg) n.303C>G n.357+17C>G | ClinVar dbSNP COSMIC |
| 1 | g.17028637G= | CA1148224198 | SDHB | c.215C= (p.Pro72=) c.344C= (p.Pro115=) c.386C= (p.Pro129=) n.303C= n.357+17C= | |
| 1 | g.17028637G>T | CA338274287 | SDHB | c.215C>A (p.Pro72His) c.344C>A (p.Pro115His) c.386C>A (p.Pro129His) n.303C>A n.357+17C>A | |
| 1 | g.17028638G>A | CA338274290 | SDHB | c.214C>T (p.Pro72Ser) c.343C>T (p.Pro115Ser) c.385C>T (p.Pro129Ser) n.302C>T n.357+16C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028638G>C | CA338274293 | SDHB | c.214C>G (p.Pro72Ala) c.343C>G (p.Pro115Ala) c.385C>G (p.Pro129Ala) n.302C>G n.357+16C>G | ClinVar dbSNP |
| 1 | g.17028638G= | CA1156080490 | SDHB | c.214C= (p.Pro72=) c.343C= (p.Pro115=) c.385C= (p.Pro129=) n.302C= n.357+16C= | |
| 1 | g.17028638G>T | CA338274306 | SDHB | c.214C>A (p.Pro72Thr) c.343C>A (p.Pro115Thr) c.385C>A (p.Pro129Thr) n.302C>A n.357+16C>A | ClinVar |
| 1 | g.17028639G>A | CA416087632 | SDHB | c.213C>T (p.Tyr71=) c.342C>T (p.Tyr114=) c.384C>T (p.Tyr128=) n.301C>T n.357+15C>T | dbSNP gnomAD v4 |
| 1 | g.17028639G>C | CA338274311 | SDHB | c.213C>G (p.Tyr71Ter) c.342C>G (p.Tyr114Ter) c.384C>G (p.Tyr128Ter) n.301C>G n.357+15C>G | COSMIC |
| 1 | g.17028639G>T | CA338274313 | SDHB | c.213C>A (p.Tyr71Ter) c.342C>A (p.Tyr114Ter) c.384C>A (p.Tyr128Ter) n.301C>A n.357+15C>A | ClinVar |
| 1 | g.17028640T>A | CA338274314 | SDHB | c.212A>T (p.Tyr71Phe) c.341A>T (p.Tyr114Phe) c.383A>T (p.Tyr128Phe) n.300A>T n.357+14A>T | ClinVar gnomAD v4 |
| 1 | g.17028640T>C | CA089601 | SDHB | c.212A>G (p.Tyr71Cys) c.341A>G (p.Tyr114Cys) c.383A>G (p.Tyr128Cys) n.300A>G n.357+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028640T>G | CA338274317 | SDHB | c.212A>C (p.Tyr71Ser) c.341A>C (p.Tyr114Ser) c.383A>C (p.Tyr128Ser) n.300A>C n.357+14A>C | ClinVar |
| 1 | g.17028640T= | CA1156080491 | SDHB | c.212A= (p.Tyr71=) c.341A= (p.Tyr114=) c.383A= (p.Tyr128=) n.300A= n.357+14A= | |
| 1 | g.17028641A>C | CA338274328 | SDHB | c.211T>G (p.Tyr71Asp) c.340T>G (p.Tyr114Asp) c.382T>G (p.Tyr128Asp) n.299T>G n.357+13T>G | |
| 1 | g.17028641A>G | CA338274321 | SDHB | c.211T>C (p.Tyr71His) c.340T>C (p.Tyr114His) c.382T>C (p.Tyr128His) n.299T>C n.357+13T>C |