| 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.112094831_112094832del | CA2580083517 | SDHD | c.*80_*81del (n.*80_*81del) c.314+5820_314+5821del (n.314+5820_314+5821del) c.341_342del (p.Tyr114CysfsTer?) c.224_225del (p.Tyr75CysfsTer?) n.319+5820_319+5821del c.*39_*40del (n.*39_*40del) c.196_197del (p.Met66ValfsTer?) c.334_335del (p.Met112ValfsTer?) c.385_386del c.145+5820_145+5821del n.479_480del n.430_431del | ClinVar |
| 11 | g.112094831A= | CA2000553843 | SDHD | c.*80A= (n.*80A=) c.314+5820A= (n.314+5820A=) c.341A= (p.Tyr114=) c.224A= (p.Tyr75=) n.319+5820A= c.*39A= (n.*39A=) c.196A= (p.Met66=) c.334A= (p.Met112=) c.385A= c.145+5820A= n.479A= n.430A= | |
| 11 | g.112094831A>C | CA382618848 | SDHD | c.*80A>C (n.*80A>C) c.314+5820A>C (n.314+5820A>C) c.341A>C (p.Tyr114Ser) c.224A>C (p.Tyr75Ser) n.319+5820A>C c.*39A>C (n.*39A>C) c.196A>C (p.Met66Leu) c.334A>C (p.Met112Leu) c.385A>C c.145+5820A>C n.479A>C n.430A>C | |
| 11 | g.112094831A>G | CA016797 | SDHD | c.*80A>G (n.*80A>G) c.314+5820A>G (n.314+5820A>G) c.341A>G (p.Tyr114Cys) c.224A>G (p.Tyr75Cys) n.319+5820A>G c.*39A>G (n.*39A>G) c.196A>G (p.Met66Val) c.334A>G (p.Met112Val) c.385A>G c.145+5820A>G n.479A>G n.430A>G | ClinVar dbSNP |
| 11 | g.112094831A>T | CA382618850 | SDHD | c.*80A>T (n.*80A>T) c.314+5820A>T (n.314+5820A>T) c.341A>T (p.Tyr114Phe) c.224A>T (p.Tyr75Phe) n.319+5820A>T c.*39A>T (n.*39A>T) c.196A>T (p.Met66Leu) c.334A>T (p.Met112Leu) c.385A>T c.145+5820A>T n.479A>T n.430A>T | |
| 11 | g.112094832T>A | CA382618852 | SDHD | c.*81T>A (n.*81T>A) c.314+5821T>A (n.314+5821T>A) c.342T>A (p.Tyr114Ter) c.225T>A (p.Tyr75Ter) n.319+5821T>A c.*40T>A (n.*40T>A) c.197T>A (p.Met66Lys) c.335T>A (p.Met112Lys) c.386T>A c.145+5821T>A n.480T>A n.431T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094832T>C | CA228555628 | SDHD | c.*81T>C (n.*81T>C) c.314+5821T>C (n.314+5821T>C) c.342T>C (p.Tyr114=) c.225T>C (p.Tyr75=) n.319+5821T>C c.*40T>C (n.*40T>C) c.197T>C (p.Met66Thr) c.335T>C (p.Met112Thr) c.386T>C c.145+5821T>C n.480T>C n.431T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094832T>G | CA382618854 | SDHD | c.*81T>G (n.*81T>G) c.314+5821T>G (n.314+5821T>G) c.342T>G (p.Tyr114Ter) c.225T>G (p.Tyr75Ter) n.319+5821T>G c.*40T>G (n.*40T>G) c.197T>G (p.Met66Arg) c.335T>G (p.Met112Arg) c.386T>G c.145+5821T>G n.480T>G n.431T>G | |
| 11 | g.112094832T= | CA2000553849 | SDHD | c.*81T= (n.*81T=) c.314+5821T= (n.314+5821T=) c.342T= (p.Tyr114=) c.225T= (p.Tyr75=) n.319+5821T= c.*40T= (n.*40T=) c.197T= (p.Met66=) c.335T= (p.Met112=) c.386T= c.145+5821T= n.480T= n.431T= | |
| 11 | g.112094833G>A | CA382618857 | SDHD | c.*82G>A (n.*82G>A) c.314+5822G>A (n.314+5822G>A) c.343G>A (p.Val115Ile) c.226G>A (p.Val76Ile) n.319+5822G>A c.*41G>A (n.*41G>A) c.198G>A (p.Met66Ile) c.336G>A (p.Met112Ile) c.387G>A c.145+5822G>A n.481G>A n.432G>A | dbSNP gnomAD v2 |
| 11 | g.112094833G>C | CA382618858 | SDHD | c.*82G>C (n.*82G>C) c.314+5822G>C (n.314+5822G>C) c.343G>C (p.Val115Leu) c.226G>C (p.Val76Leu) n.319+5822G>C c.*41G>C (n.*41G>C) c.198G>C (p.Met66Ile) c.336G>C (p.Met112Ile) c.387G>C c.145+5822G>C n.481G>C n.432G>C | |
| 11 | g.112094833G= | CA2000553856 | SDHD | c.*82G= (n.*82G=) c.314+5822G= (n.314+5822G=) c.343G= (p.Val115=) c.226G= (p.Val76=) n.319+5822G= c.*41G= (n.*41G=) c.198G= (p.Met66=) c.336G= (p.Met112=) c.387G= c.145+5822G= n.481G= n.432G= | |
| 11 | g.112094833G>T | CA382618859 | SDHD | c.*82G>T (n.*82G>T) c.314+5822G>T (n.314+5822G>T) c.343G>T (p.Val115Phe) c.226G>T (p.Val76Phe) n.319+5822G>T c.*41G>T (n.*41G>T) c.198G>T (p.Met66Ile) c.336G>T (p.Met112Ile) c.387G>T c.145+5822G>T n.481G>T n.432G>T | |
| 11 | g.112094834T>A | CA382618862 | SDHD | c.*83T>A (n.*83T>A) c.314+5823T>A (n.314+5823T>A) c.344T>A (p.Val115Asp) c.227T>A (p.Val76Asp) n.319+5823T>A c.*42T>A (n.*42T>A) c.199T>A (p.Phe67Ile) c.337T>A (p.Phe113Ile) c.388T>A c.145+5823T>A n.482T>A n.433T>A | |
| 11 | g.112094834T>C | CA382618865 | SDHD | c.*83T>C (n.*83T>C) c.314+5823T>C (n.314+5823T>C) c.344T>C (p.Val115Ala) c.227T>C (p.Val76Ala) n.319+5823T>C c.*42T>C (n.*42T>C) c.199T>C (p.Phe67Leu) c.337T>C (p.Phe113Leu) c.388T>C c.145+5823T>C n.482T>C n.433T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094834T>G | CA382618868 | SDHD | c.*83T>G (n.*83T>G) c.314+5823T>G (n.314+5823T>G) c.344T>G (p.Val115Gly) c.227T>G (p.Val76Gly) n.319+5823T>G c.*42T>G (n.*42T>G) c.199T>G (p.Phe67Val) c.337T>G (p.Phe113Val) c.388T>G c.145+5823T>G n.482T>G n.433T>G | |
| 11 | g.112094834T= | CA2000553858 | SDHD | c.*83T= (n.*83T=) c.314+5823T= (n.314+5823T=) c.344T= (p.Val115=) c.227T= (p.Val76=) n.319+5823T= c.*42T= (n.*42T=) c.199T= (p.Phe67=) c.337T= (p.Phe113=) c.388T= c.145+5823T= n.482T= n.433T= | |
| 11 | g.112094835T>A | CA382618869 | SDHD | c.*84T>A (n.*84T>A) c.314+5824T>A (n.314+5824T>A) c.345T>A (p.Val115=) c.228T>A (p.Val76=) n.319+5824T>A c.*43T>A (n.*43T>A) c.200T>A (p.Phe67Tyr) c.338T>A (p.Phe113Tyr) c.389T>A c.145+5824T>A n.483T>A n.434T>A | |
| 11 | g.112094835T>C | CA382618871 | SDHD | c.*84T>C (n.*84T>C) c.314+5824T>C (n.314+5824T>C) c.345T>C (p.Val115=) c.228T>C (p.Val76=) n.319+5824T>C c.*43T>C (n.*43T>C) c.200T>C (p.Phe67Ser) c.338T>C (p.Phe113Ser) c.389T>C c.145+5824T>C n.483T>C n.434T>C | gnomAD v4 |
| 11 | g.112094835T>G | CA382618873 | SDHD | c.*84T>G (n.*84T>G) c.314+5824T>G (n.314+5824T>G) c.345T>G (p.Val115=) c.228T>G (p.Val76=) n.319+5824T>G c.*43T>G (n.*43T>G) c.200T>G (p.Phe67Cys) c.338T>G (p.Phe113Cys) c.389T>G c.145+5824T>G n.483T>G n.434T>G | |
| 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 | 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 | |
| 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= |