| 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.17028624C>A | CA18666577 | SDHB | c.228G>T (p.Met76Ile) c.357G>T (p.Met119Ile) c.399G>T (p.Met133Ile) n.316G>T n.357+30G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17028624C= | CA1143479976 | SDHB | c.228G= (p.Met76=) c.357G= (p.Met119=) c.399G= (p.Met133=) n.316G= n.357+30G= | |
| 1 | g.17028624C>G | CA338274099 | SDHB | c.228G>C (p.Met76Ile) c.357G>C (p.Met119Ile) c.399G>C (p.Met133Ile) n.316G>C n.357+30G>C | |
| 1 | g.17028624C>T | CA338274119 | SDHB | c.228G>A (p.Met76Ile) c.357G>A (p.Met119Ile) c.399G>A (p.Met133Ile) n.316G>A n.357+30G>A | dbSNP |
| 1 | g.17028624dup | CA891842432 | SDHB | c.228dup (p.Tyr77ValfsTer21) c.357dup (p.Tyr120ValfsTer21) c.399dup (p.Tyr134ValfsTer21) n.316dup n.357+30dup | ClinVar dbSNP |
| 1 | g.17028625A= | CA1146226690 | SDHB | c.227T= (p.Met76=) c.356T= (p.Met119=) c.398T= (p.Met133=) n.315T= n.357+29T= | |
| 1 | g.17028625A>C | CA338274123 | SDHB | c.227T>G (p.Met76Arg) c.356T>G (p.Met119Arg) c.398T>G (p.Met133Arg) n.315T>G n.357+29T>G | |
| 1 | g.17028625A>G | CA089604 | SDHB | c.227T>C (p.Met76Thr) c.356T>C (p.Met119Thr) c.398T>C (p.Met133Thr) n.315T>C n.357+29T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17028625A>T | CA338274126 | SDHB | c.227T>A (p.Met76Lys) c.356T>A (p.Met119Lys) c.398T>A (p.Met133Lys) n.315T>A n.357+29T>A | gnomAD v4 |
| 1 | g.17028626T>A | CA338274128 | SDHB | c.226A>T (p.Met76Leu) c.355A>T (p.Met119Leu) c.397A>T (p.Met133Leu) n.314A>T n.357+28A>T | |
| 1 | g.17028626T>C | CA338274130 | SDHB | c.226A>G (p.Met76Val) c.355A>G (p.Met119Val) c.397A>G (p.Met133Val) n.314A>G n.357+28A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17028626T>G | CA338274132 | SDHB | c.226A>C (p.Met76Leu) c.355A>C (p.Met119Leu) c.397A>C (p.Met133Leu) n.314A>C n.357+28A>C | dbSNP |
| 1 | g.17028626T= | CA1156080487 | SDHB | c.226A= (p.Met76=) c.355A= (p.Met119=) c.397A= (p.Met133=) n.314A= n.357+28A= | |
| 1 | g.17028627G>A | CA416087565 | SDHB | c.225C>T (p.His75=) c.354C>T (p.His118=) c.396C>T (p.His132=) n.313C>T n.357+27C>T | gnomAD v4 |
| 1 | g.17028627G>C | CA338274146 | SDHB | c.225C>G (p.His75Gln) c.354C>G (p.His118Gln) c.396C>G (p.His132Gln) n.313C>G n.357+27C>G | |
| 1 | g.17028627G= | CA1156080488 | SDHB | c.225C= (p.His75=) c.354C= (p.His118=) c.396C= (p.His132=) n.313C= n.357+27C= | |
| 1 | g.17028627G>T | CA338274133 | SDHB | c.225C>A (p.His75Gln) c.354C>A (p.His118Gln) c.396C>A (p.His132Gln) n.313C>A n.357+27C>A | dbSNP gnomAD v3 gnomAD v4 |
| 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 | 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 |