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.17028708_17028718del | CA2580060626 | SDHB | c.134_144del (p.Ala45GlufsTer13) c.263_273del (p.Ala88GlufsTer13) c.305_315del (p.Ala102GlufsTer13) n.222_232del n.293_303del | ClinVar |
1 | g.17028715A= | CA1156080533 | SDHB | c.137T= (p.Met46=) c.266T= (p.Met89=) c.308T= (p.Met103=) n.225T= n.296T= | |
1 | g.17028715A>C | CA338275051 | SDHB | c.137T>G (p.Met46Arg) c.266T>G (p.Met89Arg) c.308T>G (p.Met103Arg) n.225T>G n.296T>G | ClinVar dbSNP |
1 | g.17028715A>G | CA338275056 | SDHB | c.137T>C (p.Met46Thr) c.266T>C (p.Met89Thr) c.308T>C (p.Met103Thr) n.225T>C n.296T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17028715A>T | CA338275065 | SDHB | c.137T>A (p.Met46Lys) c.266T>A (p.Met89Lys) c.308T>A (p.Met103Lys) n.225T>A n.296T>A | |
1 | g.17028716T>A | CA338275068 | SDHB | c.136A>T (p.Met46Leu) c.265A>T (p.Met89Leu) c.307A>T (p.Met103Leu) n.224A>T n.295A>T | |
1 | g.17028716T>C | CA089584 | SDHB | c.136A>G (p.Met46Val) c.265A>G (p.Met89Val) c.307A>G (p.Met103Val) n.224A>G n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028716T>G | CA338275074 | SDHB | c.136A>C (p.Met46Leu) c.265A>C (p.Met89Leu) c.307A>C (p.Met103Leu) n.224A>C n.295A>C | |
1 | g.17028716T= | CA1141726522 | SDHB | c.136A= (p.Met46=) c.265A= (p.Met89=) c.307A= (p.Met103=) n.224A= n.295A= | |
1 | g.17028717T>A | CA416088071 | SDHB | c.135A>T (p.Ala45=) c.264A>T (p.Ala88=) c.306A>T (p.Ala102=) n.223A>T n.294A>T | |
1 | g.17028717T>C | CA416088073 | SDHB | c.135A>G (p.Ala45=) c.264A>G (p.Ala88=) c.306A>G (p.Ala102=) n.223A>G n.294A>G | ClinVar dbSNP |
1 | g.17028717T>G | CA416088075 | SDHB | c.135A>C (p.Ala45=) c.264A>C (p.Ala88=) c.306A>C (p.Ala102=) n.223A>C n.294A>C | gnomAD v4 |
1 | g.17028717T= | CA1156080534 | SDHB | c.135A= (p.Ala45=) c.264A= (p.Ala88=) c.306A= (p.Ala102=) n.223A= n.294A= | |
1 | g.17028718G>A | CA338275075 | SDHB | c.134C>T (p.Ala45Val) c.263C>T (p.Ala88Val) c.305C>T (p.Ala102Val) n.222C>T n.293C>T | dbSNP |
1 | g.17028718G>C | CA338275077 | SDHB | c.134C>G (p.Ala45Gly) c.263C>G (p.Ala88Gly) c.305C>G (p.Ala102Gly) n.222C>G n.293C>G | |
1 | g.17028718G>T | CA338275080 | SDHB | c.134C>A (p.Ala45Glu) c.263C>A (p.Ala88Glu) c.305C>A (p.Ala102Glu) n.222C>A n.293C>A | |
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 |