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.17028619A>C | CA338274044 | SDHB | c.233T>G (p.Val78Gly) c.362T>G (p.Val121Gly) c.404T>G (p.Val135Gly) n.321T>G n.357+35T>G | |
1 | g.17028619A>G | CA338274046 | SDHB | c.233T>C (p.Val78Ala) c.362T>C (p.Val121Ala) c.404T>C (p.Val135Ala) n.321T>C n.357+35T>C | |
1 | g.17028619A>T | CA338274050 | SDHB | c.233T>A (p.Val78Glu) c.362T>A (p.Val121Glu) c.404T>A (p.Val135Glu) n.321T>A n.357+35T>A | |
1 | g.17028620C>A | CA338274052 | SDHB | c.232G>T (p.Val78Leu) c.361G>T (p.Val121Leu) c.403G>T (p.Val135Leu) n.320G>T n.357+34G>T | dbSNP |
1 | g.17028620C= | CA1143492238 | SDHB | c.232G= (p.Val78=) c.361G= (p.Val121=) c.403G= (p.Val135=) n.320G= n.357+34G= | |
1 | g.17028620C>G | CA338274073 | SDHB | c.232G>C (p.Val78Leu) c.361G>C (p.Val121Leu) c.403G>C (p.Val135Leu) n.320G>C n.357+34G>C | |
1 | g.17028620C>T | CA015827 | SDHB | c.232G>A (p.Val78Met) c.361G>A (p.Val121Met) c.403G>A (p.Val135Met) n.320G>A n.357+34G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17028621A>C | CA338274080 | SDHB | c.231T>G (p.Tyr77Ter) c.360T>G (p.Tyr120Ter) c.402T>G (p.Tyr134Ter) n.319T>G n.357+33T>G | |
1 | g.17028621A>G | CA416087534 | SDHB | c.231T>C (p.Tyr77=) c.360T>C (p.Tyr120=) c.402T>C (p.Tyr134=) n.319T>C n.357+33T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17028621A>T | CA338274082 | SDHB | c.231T>A (p.Tyr77Ter) c.360T>A (p.Tyr120Ter) c.402T>A (p.Tyr134Ter) n.319T>A n.357+33T>A | |
1 | g.17028622T>A | CA338274087 | SDHB | c.230A>T (p.Tyr77Phe) c.359A>T (p.Tyr120Phe) c.401A>T (p.Tyr134Phe) n.318A>T n.357+32A>T | |
1 | g.17028622T>C | CA18666569 | SDHB | c.230A>G (p.Tyr77Cys) c.359A>G (p.Tyr120Cys) c.401A>G (p.Tyr134Cys) n.318A>G n.357+32A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028622T>G | CA338274086 | SDHB | c.230A>C (p.Tyr77Ser) c.359A>C (p.Tyr120Ser) c.401A>C (p.Tyr134Ser) n.318A>C n.357+32A>C | |
1 | g.17028622T= | CA1143446877 | SDHB | c.230A= (p.Tyr77=) c.359A= (p.Tyr120=) c.401A= (p.Tyr134=) n.318A= n.357+32A= | |
1 | g.17028622dup | CA2573334464 | SDHB | c.230dup (p.Tyr77Ter) c.359dup (p.Tyr120Ter) c.401dup (p.Tyr134Ter) n.318dup n.357+32dup | |
1 | g.17028623A= | CA1156080486 | SDHB | c.229T= (p.Tyr77=) c.358T= (p.Tyr120=) c.400T= (p.Tyr134=) n.317T= n.357+31T= | |
1 | g.17028623A>C | CA338274088 | SDHB | c.229T>G (p.Tyr77Asp) c.358T>G (p.Tyr120Asp) c.400T>G (p.Tyr134Asp) n.317T>G n.357+31T>G | |
1 | g.17028623A>G | CA089606 | SDHB | c.229T>C (p.Tyr77His) c.358T>C (p.Tyr120His) c.400T>C (p.Tyr134His) n.317T>C n.357+31T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028623A>T | CA338274095 | SDHB | c.229T>A (p.Tyr77Asn) c.358T>A (p.Tyr120Asn) c.400T>A (p.Tyr134Asn) n.317T>A n.357+31T>A | |
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 | ClinVar 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 | ClinVar 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 | 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 |