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.17028719C>A | CA338275083 | SDHB | c.133G>T (p.Ala45Ser) c.262G>T (p.Ala88Ser) c.304G>T (p.Ala102Ser) n.221G>T n.292G>T | |
1 | g.17028719C= | CA1156080535 | SDHB | c.133G= (p.Ala45=) c.262G= (p.Ala88=) c.304G= (p.Ala102=) n.221G= n.292G= | |
1 | g.17028719C>G | CA338275085 | SDHB | c.133G>C (p.Ala45Pro) c.262G>C (p.Ala88Pro) c.304G>C (p.Ala102Pro) n.221G>C n.292G>C | |
1 | g.17028719C>T | CA089583 | SDHB | c.133G>A (p.Ala45Thr) c.262G>A (p.Ala88Thr) c.304G>A (p.Ala102Thr) n.221G>A n.292G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028720A>C | CA338275096 | SDHB | c.132T>G (p.Cys44Trp) c.261T>G (p.Cys87Trp) c.303T>G (p.Cys101Trp) n.220T>G n.291T>G | |
1 | g.17028720A>G | CA416088090 | SDHB | c.132T>C (p.Cys44=) c.261T>C (p.Cys87=) c.303T>C (p.Cys101=) n.220T>C n.291T>C | ClinVar dbSNP |
1 | g.17028720A>T | CA338275098 | SDHB | c.132T>A (p.Cys44Ter) c.261T>A (p.Cys87Ter) c.303T>A (p.Cys101Ter) n.220T>A n.291T>A | |
1 | g.17028721C>A | CA338275113 | SDHB | c.131G>T (p.Cys44Phe) c.260G>T (p.Cys87Phe) c.302G>T (p.Cys101Phe) n.219G>T n.290G>T | |
1 | g.17028721C= | CA1140886349 | SDHB | c.131G= (p.Cys44=) c.260G= (p.Cys87=) c.302G= (p.Cys101=) n.219G= n.290G= | |
1 | g.17028721C>G | CA338275116 | SDHB | c.131G>C (p.Cys44Ser) c.260G>C (p.Cys87Ser) c.302G>C (p.Cys101Ser) n.219G>C n.290G>C | ClinVar dbSNP |
1 | g.17028721C>T | CA015737 | SDHB | c.131G>A (p.Cys44Tyr) c.260G>A (p.Cys87Tyr) c.302G>A (p.Cys101Tyr) n.219G>A n.290G>A | ClinVar dbSNP |
1 | g.17028722A>C | CA338275123 | SDHB | c.130T>G (p.Cys44Gly) c.259T>G (p.Cys87Gly) c.301T>G (p.Cys101Gly) n.218T>G n.289T>G | |
1 | g.17028722A>G | CA338275122 | SDHB | c.130T>C (p.Cys44Arg) c.259T>C (p.Cys87Arg) c.301T>C (p.Cys101Arg) n.218T>C n.289T>C | |
1 | g.17028722A>T | CA338275120 | SDHB | c.130T>A (p.Cys44Ser) c.259T>A (p.Cys87Ser) c.301T>A (p.Cys101Ser) n.218T>A n.289T>A | |
1 | g.17028723del | CA2586966133 | SDHB | c.130del (p.Cys44ValfsTer3) c.259del (p.Cys87ValfsTer3) c.301del (p.Cys101ValfsTer3) n.218del n.289del | |
1 | g.17028723A= | CA1140263948 | SDHB | c.129T= (p.Ser43=) c.258T= (p.Ser86=) c.300T= (p.Ser100=) n.217T= n.288T= | |
1 | g.17028723A>C | CA416088103 | SDHB | c.129T>G (p.Ser43=) c.258T>G (p.Ser86=) c.300T>G (p.Ser100=) n.217T>G n.288T>G | |
1 | g.17028723A>G | CA015729 | SDHB | c.129T>C (p.Ser43=) c.258T>C (p.Ser86=) c.300T>C (p.Ser100=) n.217T>C n.288T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028723A>T | CA416088107 | SDHB | c.129T>A (p.Ser43=) c.258T>A (p.Ser86=) c.300T>A (p.Ser100=) n.217T>A n.288T>A | |
1 | g.17028724G>A | CA015720 | SDHB | c.128C>T (p.Ser43Phe) c.257C>T (p.Ser86Phe) c.299C>T (p.Ser100Phe) n.216C>T n.287C>T | ClinVar dbSNP |
1 | g.17028724G>C | CA338275124 | SDHB | c.128C>G (p.Ser43Cys) c.257C>G (p.Ser86Cys) c.299C>G (p.Ser100Cys) n.216C>G n.287C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028724G= | CA1141580615 | SDHB | c.128C= (p.Ser43=) c.257C= (p.Ser86=) c.299C= (p.Ser100=) n.216C= n.287C= | |
1 | g.17028724G>T | CA338275131 | SDHB | c.128C>A (p.Ser43Tyr) c.257C>A (p.Ser86Tyr) c.299C>A (p.Ser100Tyr) n.216C>A n.287C>A | |
1 | g.17028725A>C | CA338275136 | SDHB | c.127T>G (p.Ser43Ala) c.256T>G (p.Ser86Ala) c.298T>G (p.Ser100Ala) n.215T>G n.286T>G | |
1 | g.17028725A>G | CA338275142 | SDHB | c.127T>C (p.Ser43Pro) c.256T>C (p.Ser86Pro) c.298T>C (p.Ser100Pro) n.215T>C n.286T>C | gnomAD v4 |
1 | g.17028725A>T | CA338275144 | SDHB | c.127T>A (p.Ser43Thr) c.256T>A (p.Ser86Thr) c.298T>A (p.Ser100Thr) n.215T>A n.286T>A | |
1 | g.17028726del | CA658655530 | SDHB | c.126del (p.Ser43LeufsTer4) c.255del (p.Ser86LeufsTer4) c.297del (p.Ser100LeufsTer4) n.214del n.285del | gnomAD v4 |
1 | g.17028726G>A | CA416088118 | SDHB | c.126C>T (p.Gly42=) c.255C>T (p.Gly85=) c.297C>T (p.Gly99=) n.214C>T n.285C>T | |
1 | g.17028726G>C | CA416088122 | SDHB | c.126C>G (p.Gly42=) c.255C>G (p.Gly85=) c.297C>G (p.Gly99=) n.214C>G n.285C>G | ClinVar |
1 | g.17028726G>T | CA416088120 | SDHB | c.126C>A (p.Gly42=) c.255C>A (p.Gly85=) c.297C>A (p.Gly99=) n.214C>A n.285C>A | |
1 | g.17028727C>A | CA338275155 | SDHB | c.125G>T (p.Gly42Val) c.254G>T (p.Gly85Val) c.296G>T (p.Gly99Val) n.213G>T n.284G>T | dbSNP |
1 | g.17028727C= | CA1156080536 | SDHB | c.125G= (p.Gly42=) c.254G= (p.Gly85=) c.296G= (p.Gly99=) n.213G= n.284G= | |
1 | g.17028727C>G | CA338275157 | SDHB | c.125G>C (p.Gly42Ala) c.254G>C (p.Gly85Ala) c.296G>C (p.Gly99Ala) n.213G>C n.284G>C | |
1 | g.17028727C>T | CA10581747 | SDHB | c.125G>A (p.Gly42Asp) c.254G>A (p.Gly85Asp) c.296G>A (p.Gly99Asp) n.213G>A n.284G>A | ClinVar dbSNP |
1 | g.17028727_17028746delinsCCACAGATGCCTGAAAGAGA | CA1156080537 | SDHB | c.116-10_125delinsTCTCTTTCAGGCATCTGTGG c.245-10_254delinsTCTCTTTCAGGCATCTGTGG c.287-10_296delinsTCTCTTTCAGGCATCTGTGG n.204-10_213delinsTCTCTTTCAGGCATCTGTGG n.275-10_284delinsTCTCTTTCAGGCATCTGTGG | |
1 | g.17028728C>A | CA338275166 | SDHB | c.124G>T (p.Gly42Cys) c.253G>T (p.Gly85Cys) c.295G>T (p.Gly99Cys) n.212G>T n.283G>T | |
1 | g.17028728C= | CA1156080538 | SDHB | c.124G= (p.Gly42=) c.253G= (p.Gly85=) c.295G= (p.Gly99=) n.212G= n.283G= | |
1 | g.17028728C>G | CA338275177 | SDHB | c.124G>C (p.Gly42Arg) c.253G>C (p.Gly85Arg) c.295G>C (p.Gly99Arg) n.212G>C n.283G>C | |
1 | g.17028728C>T | CA18666849 | SDHB | c.124G>A (p.Gly42Ser) c.253G>A (p.Gly85Ser) c.295G>A (p.Gly99Ser) n.212G>A n.283G>A | ClinVar dbSNP |
1 | g.17028732_17028750del | CA1156080539 | SDHB | c.116-10_124del c.245-10_253del c.287-10_295del n.204-10_212del n.275-10_283del | ClinVar dbSNP |
1 | g.17028729A>C | CA338275187 | SDHB | c.123T>G (p.Cys41Trp) c.252T>G (p.Cys84Trp) c.294T>G (p.Cys98Trp) n.211T>G n.282T>G | |
1 | g.17028729A>G | CA416088133 | SDHB | c.123T>C (p.Cys41=) c.252T>C (p.Cys84=) c.294T>C (p.Cys98=) n.211T>C n.282T>C | COSMIC |
1 | g.17028729A>T | CA338275191 | SDHB | c.123T>A (p.Cys41Ter) c.252T>A (p.Cys84Ter) c.294T>A (p.Cys98Ter) n.211T>A n.282T>A | |
1 | g.17028730C>A | CA338275203 | SDHB | c.122G>T (p.Cys41Phe) c.251G>T (p.Cys84Phe) c.293G>T (p.Cys98Phe) n.210G>T n.281G>T | |
1 | g.17028730C= | CA1156080540 | SDHB | c.122G= (p.Cys41=) c.251G= (p.Cys84=) c.293G= (p.Cys98=) n.210G= n.281G= | |
1 | g.17028730C>G | CA338275194 | SDHB | c.122G>C (p.Cys41Ser) c.251G>C (p.Cys84Ser) c.293G>C (p.Cys98Ser) n.210G>C n.281G>C | |
1 | g.17028730C>T | CA338275198 | SDHB | c.122G>A (p.Cys41Tyr) c.251G>A (p.Cys84Tyr) c.293G>A (p.Cys98Tyr) n.210G>A n.281G>A | ClinVar dbSNP |
1 | g.17028731A>C | CA338275206 | SDHB | c.121T>G (p.Cys41Gly) c.250T>G (p.Cys84Gly) c.292T>G (p.Cys98Gly) n.209T>G n.280T>G | |
1 | g.17028731A>G | CA338275224 | SDHB | c.121T>C (p.Cys41Arg) c.250T>C (p.Cys84Arg) c.292T>C (p.Cys98Arg) n.209T>C n.280T>C | ClinVar |