| 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.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 | 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 | 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 | |
| 1 | g.17028731A>T | CA338275228 | SDHB | c.121T>A (p.Cys41Ser) c.250T>A (p.Cys84Ser) c.292T>A (p.Cys98Ser) n.209T>A n.280T>A | |
| 1 | g.17028732G>A | CA416088138 | SDHB | c.120C>T (p.Ile40=) c.249C>T (p.Ile83=) c.291C>T (p.Ile97=) n.208C>T n.279C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17028732G>C | CA338275241 | SDHB | c.120C>G (p.Ile40Met) c.249C>G (p.Ile83Met) c.291C>G (p.Ile97Met) n.208C>G n.279C>G | dbSNP |
| 1 | g.17028732G= | CA1156080541 | SDHB | c.120C= (p.Ile40=) c.249C= (p.Ile83=) c.291C= (p.Ile97=) n.208C= n.279C= | |
| 1 | g.17028732G>T | CA416088135 | SDHB | c.120C>A (p.Ile40=) c.249C>A (p.Ile83=) c.291C>A (p.Ile97=) n.208C>A n.279C>A | |
| 1 | g.17028733A>C | CA338275246 | SDHB | c.119T>G (p.Ile40Ser) c.248T>G (p.Ile83Ser) c.290T>G (p.Ile97Ser) n.207T>G n.278T>G | |
| 1 | g.17028733A>G | CA338275249 | SDHB | c.119T>C (p.Ile40Thr) c.248T>C (p.Ile83Thr) c.290T>C (p.Ile97Thr) n.207T>C n.278T>C | |
| 1 | g.17028733A>T | CA338275263 | SDHB | c.119T>A (p.Ile40Asn) c.248T>A (p.Ile83Asn) c.290T>A (p.Ile97Asn) n.207T>A n.278T>A | |
| 1 | g.17028734T>A | CA338275267 | SDHB | c.118A>T (p.Ile40Phe) c.247A>T (p.Ile83Phe) c.289A>T (p.Ile97Phe) n.206A>T n.277A>T | ClinVar dbSNP |
| 1 | g.17028734T>C | CA338275269 | SDHB | c.118A>G (p.Ile40Val) c.247A>G (p.Ile83Val) c.289A>G (p.Ile97Val) n.206A>G n.277A>G | gnomAD v4 |
| 1 | g.17028734T>G | CA338275270 | SDHB | c.118A>C (p.Ile40Leu) c.247A>C (p.Ile83Leu) c.289A>C (p.Ile97Leu) n.206A>C n.277A>C | |
| 1 | g.17028734T= | CA1156080542 | SDHB | c.118A= (p.Ile40=) c.247A= (p.Ile83=) c.289A= (p.Ile97=) n.206A= n.277A= | |
| 1 | g.17028735G>A | CA089581 | SDHB | c.117C>T (p.Gly39=) c.246C>T (p.Gly82=) c.288C>T (p.Gly96=) n.205C>T n.276C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17028735G>C | CA416088149 | SDHB | c.117C>G (p.Gly39=) c.246C>G (p.Gly82=) c.288C>G (p.Gly96=) n.205C>G n.276C>G | |
| 1 | g.17028735G= | CA1156080543 | SDHB | c.117C= (p.Gly39=) c.246C= (p.Gly82=) c.288C= (p.Gly96=) n.205C= n.276C= | |
| 1 | g.17028735G>T | CA416088151 | SDHB | c.117C>A (p.Gly39=) c.246C>A (p.Gly82=) c.288C>A (p.Gly96=) n.205C>A n.276C>A | |
| 1 | g.17028736C>A | CA338275296 | SDHB | c.116G>T (p.Gly39Val) c.245G>T (p.Gly82Val) c.287G>T (p.Gly96Val) n.204G>T n.275G>T | ClinVar dbSNP |
| 1 | g.17028736C= | CA1156080544 | SDHB | c.116G= (p.Gly39=) c.245G= (p.Gly82=) c.287G= (p.Gly96=) n.204G= n.275G= | |
| 1 | g.17028736C>G | CA338275300 | SDHB | c.116G>C (p.Gly39Ala) c.245G>C (p.Gly82Ala) c.287G>C (p.Gly96Ala) n.204G>C n.275G>C | dbSNP gnomAD v3 gnomAD v4 |