WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112093693_112095870del | CA913190226 | SDHD | c.314+4682_314+6859del (n.314+4682_314+6859del) n.319+4682_319+6859del c.145+4682_145+6859del | ClinVar |
| 11 | g.112094804_112094970delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | CA2000553729 | SDHD | c.*54-1_*219delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA (n.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA) c.315-1_480delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.198-1_363delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.319+5793_319+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.*13-1_*178delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.170-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.308-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.359-1_524delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.145+5793_145+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.453-1_618delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.404-1_569delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | |
| 11 | g.112094805_112094970del | CA645509538 | SDHD | c.*54_*219del (n.*54_*219del) c.314+5794_314+5959del (n.314+5794_314+5959del) c.315_480del (p.Trp105CysfsTer8) c.198_363del (p.Trp66CysfsTer8) n.319+5794_319+5959del c.*13_*178del (n.*13_*178del) c.170_*77del (n.[c.170_*77del;Trp57SerfsTer30]) c.308_*77del (n.[c.308_*77del;Gly103AlafsTer30]) c.359_524del c.145+5794_145+5959del n.453_618del n.404_569del | ClinVar dbSNP |
| 11 | g.112094836C>A | CA382618875 | SDHD | c.*85C>A (n.*85C>A) c.314+5825C>A (n.314+5825C>A) c.346C>A (p.His116Asn) c.229C>A (p.His77Asn) n.319+5825C>A c.*44C>A (n.*44C>A) c.201C>A (p.Phe67Leu) c.339C>A (p.Phe113Leu) c.390C>A c.145+5825C>A n.484C>A n.435C>A | |
| 11 | g.112094836C>G | CA382618877 | SDHD | c.*85C>G (n.*85C>G) c.314+5825C>G (n.314+5825C>G) c.346C>G (p.His116Asp) c.229C>G (p.His77Asp) n.319+5825C>G c.*44C>G (n.*44C>G) c.201C>G (p.Phe67Leu) c.339C>G (p.Phe113Leu) c.390C>G c.145+5825C>G n.484C>G n.435C>G | |
| 11 | g.112094836C>T | CA382618880 | SDHD | c.*85C>T (n.*85C>T) c.314+5825C>T (n.314+5825C>T) c.346C>T (p.His116Tyr) c.229C>T (p.His77Tyr) n.319+5825C>T c.*44C>T (n.*44C>T) c.201C>T (p.Phe67=) c.339C>T (p.Phe113=) c.390C>T c.145+5825C>T n.484C>T n.435C>T | ClinVar dbSNP |
| 11 | g.112094837A>C | CA382618886 | SDHD | c.*86A>C (n.*86A>C) c.314+5826A>C (n.314+5826A>C) c.347A>C (p.His116Pro) c.230A>C (p.His77Pro) n.319+5826A>C c.*45A>C (n.*45A>C) c.202A>C (p.Met68Leu) c.340A>C (p.Met114Leu) c.391A>C c.145+5826A>C n.485A>C n.436A>C | gnomAD v4 |
| 11 | g.112094837A>G | CA382618885 | SDHD | c.*86A>G (n.*86A>G) c.314+5826A>G (n.314+5826A>G) c.347A>G (p.His116Arg) c.230A>G (p.His77Arg) n.319+5826A>G c.*45A>G (n.*45A>G) c.202A>G (p.Met68Val) c.340A>G (p.Met114Val) c.391A>G c.145+5826A>G n.485A>G n.436A>G | ClinVar gnomAD v4 |
| 11 | g.112094837A>T | CA382618883 | SDHD | c.*86A>T (n.*86A>T) c.314+5826A>T (n.314+5826A>T) c.347A>T (p.His116Leu) c.230A>T (p.His77Leu) n.319+5826A>T c.*45A>T (n.*45A>T) c.202A>T (p.Met68Leu) c.340A>T (p.Met114Leu) c.391A>T c.145+5826A>T n.485A>T n.436A>T | ClinVar dbSNP |
| 11 | g.112094838T>A | CA382618894 | SDHD | c.*87T>A (n.*87T>A) c.314+5827T>A (n.314+5827T>A) c.348T>A (p.His116Gln) c.231T>A (p.His77Gln) n.319+5827T>A c.*46T>A (n.*46T>A) c.203T>A (p.Met68Lys) c.341T>A (p.Met114Lys) c.392T>A c.145+5827T>A n.486T>A n.437T>A | |
| 11 | g.112094838T>C | CA382618889 | SDHD | c.*87T>C (n.*87T>C) c.314+5827T>C (n.314+5827T>C) c.348T>C (p.His116=) c.231T>C (p.His77=) n.319+5827T>C c.*46T>C (n.*46T>C) c.203T>C (p.Met68Thr) c.341T>C (p.Met114Thr) c.392T>C c.145+5827T>C n.486T>C n.437T>C | ClinVar dbSNP |
| 11 | g.112094838T>G | CA382618895 | SDHD | c.*87T>G (n.*87T>G) c.314+5827T>G (n.314+5827T>G) c.348T>G (p.His116Gln) c.231T>G (p.His77Gln) n.319+5827T>G c.*46T>G (n.*46T>G) c.203T>G (p.Met68Arg) c.341T>G (p.Met114Arg) c.392T>G c.145+5827T>G n.486T>G n.437T>G | |
| 11 | g.112094838_112094839delinsTG | CA2000553862 | SDHD | c.*87_*88delinsTG (n.*87_*88delinsTG) c.314+5827_314+5828delinsTG (n.314+5827_314+5828delinsTG) c.348_349delinsTG (p.His116=) c.231_232delinsTG (p.His77=) n.319+5827_319+5828delinsTG c.*46_*47delinsTG (n.*46_*47delinsTG) c.203_204delinsTG (p.Met68=) c.341_342delinsTG (p.Met114=) c.392_393delinsTG c.145+5827_145+5828delinsTG n.486_487delinsTG n.437_438delinsTG | |
| 11 | g.112094839G>A | CA382618898 | SDHD | c.*88G>A (n.*88G>A) c.314+5828G>A (n.314+5828G>A) c.349G>A (p.Gly117Arg) c.232G>A (p.Gly78Arg) n.319+5828G>A c.*47G>A (n.*47G>A) c.204G>A (p.Met68Ile) c.342G>A (p.Met114Ile) c.393G>A c.145+5828G>A n.487G>A n.438G>A | gnomAD v4 |
| 11 | g.112094839G>C | CA382618899 | SDHD | c.*88G>C (n.*88G>C) c.314+5828G>C (n.314+5828G>C) c.349G>C (p.Gly117Arg) c.232G>C (p.Gly78Arg) n.319+5828G>C c.*47G>C (n.*47G>C) c.204G>C (p.Met68Ile) c.342G>C (p.Met114Ile) c.393G>C c.145+5828G>C n.487G>C n.438G>C | |
| 11 | g.112094839G>T | CA382618902 | SDHD | c.*88G>T (n.*88G>T) c.314+5828G>T (n.314+5828G>T) c.349G>T (p.Gly117Trp) c.232G>T (p.Gly78Trp) n.319+5828G>T c.*47G>T (n.*47G>T) c.204G>T (p.Met68Ile) c.342G>T (p.Met114Ile) c.393G>T c.145+5828G>T n.487G>T n.438G>T | |
| 11 | g.112094842del | CA645369585 | SDHD | c.*91del (n.*91del) c.314+5831del (n.314+5831del) c.352del (p.Asp118MetfsTer17) c.235del (p.Asp79MetfsTer17) n.319+5831del c.*50del (n.*50del) c.207del (p.Met70CysfsTer?) c.345del (p.Met116CysfsTer?) c.396del c.145+5831del n.490del n.441del | ClinVar dbSNP |
| 11 | g.112094840G>A | CA382618903 | SDHD | c.*89G>A (n.*89G>A) c.314+5829G>A (n.314+5829G>A) c.350G>A (p.Gly117Glu) c.233G>A (p.Gly78Glu) n.319+5829G>A c.*48G>A (n.*48G>A) c.205G>A (p.Gly69Arg) c.343G>A (p.Gly115Arg) c.394G>A c.145+5829G>A n.488G>A n.439G>A | |
| 11 | g.112094840G>C | CA382618905 | SDHD | c.*89G>C (n.*89G>C) c.314+5829G>C (n.314+5829G>C) c.350G>C (p.Gly117Ala) c.233G>C (p.Gly78Ala) n.319+5829G>C c.*48G>C (n.*48G>C) c.205G>C (p.Gly69Arg) c.343G>C (p.Gly115Arg) c.394G>C c.145+5829G>C n.488G>C n.439G>C | |
| 11 | g.112094840G>T | CA382618907 | SDHD | c.*89G>T (n.*89G>T) c.314+5829G>T (n.314+5829G>T) c.350G>T (p.Gly117Val) c.233G>T (p.Gly78Val) n.319+5829G>T c.*48G>T (n.*48G>T) c.205G>T (p.Gly69Trp) c.343G>T (p.Gly115Trp) c.394G>T c.145+5829G>T n.488G>T n.439G>T | COSMIC |
| 11 | g.112094841G>A | CA382618909 | SDHD | c.*90G>A (n.*90G>A) c.314+5830G>A (n.314+5830G>A) c.351G>A (p.Gly117=) c.234G>A (p.Gly78=) n.319+5830G>A c.*49G>A (n.*49G>A) c.206G>A (p.Gly69Glu) c.344G>A (p.Gly115Glu) c.395G>A c.145+5830G>A n.489G>A n.440G>A | ClinVar |
| 11 | g.112094841G>C | CA382618912 | SDHD | c.*90G>C (n.*90G>C) c.314+5830G>C (n.314+5830G>C) c.351G>C (p.Gly117=) c.234G>C (p.Gly78=) n.319+5830G>C c.*49G>C (n.*49G>C) c.206G>C (p.Gly69Ala) c.344G>C (p.Gly115Ala) c.395G>C c.145+5830G>C n.489G>C n.440G>C | |
| 11 | g.112094841G= | CA2000553868 | SDHD | c.*90G= (n.*90G=) c.314+5830G= (n.314+5830G=) c.351G= (p.Gly117=) c.234G= (p.Gly78=) n.319+5830G= c.*49G= (n.*49G=) c.206G= (p.Gly69=) c.344G= (p.Gly115=) c.395G= c.145+5830G= n.489G= n.440G= | |
| 11 | g.112094841G>T | CA382618914 | SDHD | c.*90G>T (n.*90G>T) c.314+5830G>T (n.314+5830G>T) c.351G>T (p.Gly117=) c.234G>T (p.Gly78=) n.319+5830G>T c.*49G>T (n.*49G>T) c.206G>T (p.Gly69Val) c.344G>T (p.Gly115Val) c.395G>T c.145+5830G>T n.489G>T n.440G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094842G>A | CA382618916 | SDHD | c.*91G>A (n.*91G>A) c.314+5831G>A (n.314+5831G>A) c.352G>A (p.Asp118Asn) c.235G>A (p.Asp79Asn) n.319+5831G>A c.*50G>A (n.*50G>A) c.207G>A (p.Gly69=) c.345G>A (p.Gly115=) c.396G>A c.145+5831G>A n.490G>A n.441G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094842G>C | CA382618918 | SDHD | c.*91G>C (n.*91G>C) c.314+5831G>C (n.314+5831G>C) c.352G>C (p.Asp118His) c.235G>C (p.Asp79His) n.319+5831G>C c.*50G>C (n.*50G>C) c.207G>C (p.Gly69=) c.345G>C (p.Gly115=) c.396G>C c.145+5831G>C n.490G>C n.441G>C | dbSNP |
| 11 | g.112094842G= | CA2000553875 | SDHD | c.*91G= (n.*91G=) c.314+5831G= (n.314+5831G=) c.352G= (p.Asp118=) c.235G= (p.Asp79=) n.319+5831G= c.*50G= (n.*50G=) c.207G= (p.Gly69=) c.345G= (p.Gly115=) c.396G= c.145+5831G= n.490G= n.441G= | |
| 11 | g.112094842G>T | CA382618921 | SDHD | c.*91G>T (n.*91G>T) c.314+5831G>T (n.314+5831G>T) c.352G>T (p.Asp118Tyr) c.235G>T (p.Asp79Tyr) n.319+5831G>T c.*50G>T (n.*50G>T) c.207G>T (p.Gly69=) c.345G>T (p.Gly115=) c.396G>T c.145+5831G>T n.490G>T n.441G>T | |
| 11 | g.112094842_112094843delinsAT | CA2740090851 | SDHD | c.*91_*92delinsAT (n.*91_*92delinsAT) c.314+5831_314+5832delinsAT (n.314+5831_314+5832delinsAT) c.352_353delinsAT (p.Asp118Ile) c.235_236delinsAT (p.Asp79Ile) n.319+5831_319+5832delinsAT c.*50_*51delinsAT (n.*50_*51delinsAT) c.207_208delinsAT (p.Met70Leu) c.345_346delinsAT (p.Met116Leu) c.396_397delinsAT c.145+5831_145+5832delinsAT n.490_491delinsAT n.441_442delinsAT | ClinVar |
| 11 | g.112094843A= | CA2000553881 | SDHD | c.*92A= (n.*92A=) c.314+5832A= (n.314+5832A=) c.353A= (p.Asp118=) c.236A= (p.Asp79=) n.319+5832A= c.*51A= (n.*51A=) c.208A= (p.Met70=) c.346A= (p.Met116=) c.397A= c.145+5832A= n.491A= n.442A= | |
| 11 | g.112094843A>C | CA382618931 | SDHD | c.*92A>C (n.*92A>C) c.314+5832A>C (n.314+5832A>C) c.353A>C (p.Asp118Ala) c.236A>C (p.Asp79Ala) n.319+5832A>C c.*51A>C (n.*51A>C) c.208A>C (p.Met70Leu) c.346A>C (p.Met116Leu) c.397A>C c.145+5832A>C n.491A>C n.442A>C | ClinVar gnomAD v4 |
| 11 | g.112094843A>G | CA071271 | SDHD | c.*92A>G (n.*92A>G) c.314+5832A>G (n.314+5832A>G) c.353A>G (p.Asp118Gly) c.236A>G (p.Asp79Gly) n.319+5832A>G c.*51A>G (n.*51A>G) c.208A>G (p.Met70Val) c.346A>G (p.Met116Val) c.397A>G c.145+5832A>G n.491A>G n.442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094843A>T | CA382618929 | SDHD | c.*92A>T (n.*92A>T) c.314+5832A>T (n.314+5832A>T) c.353A>T (p.Asp118Val) c.236A>T (p.Asp79Val) n.319+5832A>T c.*51A>T (n.*51A>T) c.208A>T (p.Met70Leu) c.346A>T (p.Met116Leu) c.397A>T c.145+5832A>T n.491A>T n.442A>T | |
| 11 | g.112094844T>A | CA382618932 | SDHD | c.*93T>A (n.*93T>A) c.314+5833T>A (n.314+5833T>A) c.354T>A (p.Asp118Glu) c.237T>A (p.Asp79Glu) n.319+5833T>A c.*52T>A (n.*52T>A) c.209T>A (p.Met70Lys) c.347T>A (p.Met116Lys) c.398T>A c.145+5833T>A n.492T>A n.443T>A | |
| 11 | g.112094844T>C | CA228555645 | SDHD | c.*93T>C (n.*93T>C) c.314+5833T>C (n.314+5833T>C) c.354T>C (p.Asp118=) c.237T>C (p.Asp79=) n.319+5833T>C c.*52T>C (n.*52T>C) c.209T>C (p.Met70Thr) c.347T>C (p.Met116Thr) c.398T>C c.145+5833T>C n.492T>C n.443T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094844T>G | CA382618935 | SDHD | c.*93T>G (n.*93T>G) c.314+5833T>G (n.314+5833T>G) c.354T>G (p.Asp118Glu) c.237T>G (p.Asp79Glu) n.319+5833T>G c.*52T>G (n.*52T>G) c.209T>G (p.Met70Arg) c.347T>G (p.Met116Arg) c.398T>G c.145+5833T>G n.492T>G n.443T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094844T= | CA2000553890 | SDHD | c.*93T= (n.*93T=) c.314+5833T= (n.314+5833T=) c.354T= (p.Asp118=) c.237T= (p.Asp79=) n.319+5833T= c.*52T= (n.*52T=) c.209T= (p.Met70=) c.347T= (p.Met116=) c.398T= c.145+5833T= n.492T= n.443T= | |
| 11 | g.112094845G>A | CA228555656 | SDHD | c.*94G>A (n.*94G>A) c.314+5834G>A (n.314+5834G>A) c.355G>A (p.Ala119Thr) c.238G>A (p.Ala80Thr) n.319+5834G>A c.*53G>A (n.*53G>A) c.210G>A (p.Met70Ile) c.348G>A (p.Met116Ile) c.399G>A c.145+5834G>A n.493G>A n.444G>A | dbSNP |
| 11 | g.112094845G>C | CA382618939 | SDHD | c.*94G>C (n.*94G>C) c.314+5834G>C (n.314+5834G>C) c.355G>C (p.Ala119Pro) c.238G>C (p.Ala80Pro) n.319+5834G>C c.*53G>C (n.*53G>C) c.210G>C (p.Met70Ile) c.348G>C (p.Met116Ile) c.399G>C c.145+5834G>C n.493G>C n.444G>C | gnomAD v4 |
| 11 | g.112094845G= | CA2000553894 | SDHD | c.*94G= (n.*94G=) c.314+5834G= (n.314+5834G=) c.355G= (p.Ala119=) c.238G= (p.Ala80=) n.319+5834G= c.*53G= (n.*53G=) c.210G= (p.Met70=) c.348G= (p.Met116=) c.399G= c.145+5834G= n.493G= n.444G= | |
| 11 | g.112094845G>T | CA382618942 | SDHD | c.*94G>T (n.*94G>T) c.314+5834G>T (n.314+5834G>T) c.355G>T (p.Ala119Ser) c.238G>T (p.Ala80Ser) n.319+5834G>T c.*53G>T (n.*53G>T) c.210G>T (p.Met70Ile) c.348G>T (p.Met116Ile) c.399G>T c.145+5834G>T n.493G>T n.444G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094846C>A | CA382618944 | SDHD | c.*95C>A (n.*95C>A) c.314+5835C>A (n.314+5835C>A) c.356C>A (p.Ala119Asp) c.239C>A (p.Ala80Asp) n.319+5835C>A c.*54C>A (n.*54C>A) c.211C>A (p.Pro71Thr) c.349C>A (p.Pro117Thr) c.400C>A c.145+5835C>A n.494C>A n.445C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094846C= | CA2000553901 | SDHD | c.*95C= (n.*95C=) c.314+5835C= (n.314+5835C=) c.356C= (p.Ala119=) c.239C= (p.Ala80=) n.319+5835C= c.*54C= (n.*54C=) c.211C= (p.Pro71=) c.349C= (p.Pro117=) c.400C= c.145+5835C= n.494C= n.445C= | |
| 11 | g.112094846C>G | CA382618947 | SDHD | c.*95C>G (n.*95C>G) c.314+5835C>G (n.314+5835C>G) c.356C>G (p.Ala119Gly) c.239C>G (p.Ala80Gly) n.319+5835C>G c.*54C>G (n.*54C>G) c.211C>G (p.Pro71Ala) c.349C>G (p.Pro117Ala) c.400C>G c.145+5835C>G n.494C>G n.445C>G | |
| 11 | g.112094846C>T | CA071275 | SDHD | c.*95C>T (n.*95C>T) c.314+5835C>T (n.314+5835C>T) c.356C>T (p.Ala119Val) c.239C>T (p.Ala80Val) n.319+5835C>T c.*54C>T (n.*54C>T) c.211C>T (p.Pro71Ser) c.349C>T (p.Pro117Ser) c.400C>T c.145+5835C>T n.494C>T n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112094847C>A | CA382618949 | SDHD | c.*96C>A (n.*96C>A) c.314+5836C>A (n.314+5836C>A) c.357C>A (p.Ala119=) c.240C>A (p.Ala80=) n.319+5836C>A c.*55C>A (n.*55C>A) c.212C>A (p.Pro71His) c.350C>A (p.Pro117His) c.401C>A c.145+5836C>A n.495C>A n.446C>A | |
| 11 | g.112094847C>G | CA382618951 | SDHD | c.*96C>G (n.*96C>G) c.314+5836C>G (n.314+5836C>G) c.357C>G (p.Ala119=) c.240C>G (p.Ala80=) n.319+5836C>G c.*55C>G (n.*55C>G) c.212C>G (p.Pro71Arg) c.350C>G (p.Pro117Arg) c.401C>G c.145+5836C>G n.495C>G n.446C>G | |
| 11 | g.112094847C>T | CA382618953 | SDHD | c.*96C>T (n.*96C>T) c.314+5836C>T (n.314+5836C>T) c.357C>T (p.Ala119=) c.240C>T (p.Ala80=) n.319+5836C>T c.*55C>T (n.*55C>T) c.212C>T (p.Pro71Leu) c.350C>T (p.Pro117Leu) c.401C>T c.145+5836C>T n.495C>T n.446C>T | ClinVar dbSNP |
| 11 | g.112094848T>A | CA382618958 | SDHD | c.*97T>A (n.*97T>A) c.314+5837T>A (n.314+5837T>A) c.358T>A (p.Leu120Met) c.241T>A (p.Leu81Met) n.319+5837T>A c.*56T>A (n.*56T>A) c.213T>A (p.Pro71=) c.351T>A (p.Pro117=) c.402T>A c.145+5837T>A n.496T>A n.447T>A | |
| 11 | g.112094848T>C | CA476790943 | SDHD | c.*97T>C (n.*97T>C) c.314+5837T>C (n.314+5837T>C) c.358T>C (p.Leu120=) c.241T>C (p.Leu81=) n.319+5837T>C c.*56T>C (n.*56T>C) c.213T>C (p.Pro71=) c.351T>C (p.Pro117=) c.402T>C c.145+5837T>C n.496T>C n.447T>C |