| 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.112094920_112094925del | CA2580083536 | SDHD | c.*169_*174del (n.*169_*174del) c.314+5909_314+5914del (n.314+5909_314+5914del) c.430_435del (p.Tyr144_His145del) c.313_318del (p.Tyr105_His106del) n.319+5909_319+5914del c.*128_*133del (n.*128_*133del) c.*27_*32del (n.*27_*32del) c.474_479del c.145+5909_145+5914del n.568_573del n.519_524del | ClinVar |
| 11 | g.112094923_112094928del | CA2695215342 | SDHD | c.*172_*177del (n.*172_*177del) c.314+5912_314+5917del (n.314+5912_314+5917del) c.433_438del (p.His145_Asp146del) c.316_321del (p.His106_Asp107del) n.319+5912_319+5917del c.*131_*136del (n.*131_*136del) c.*30_*35del (n.*30_*35del) c.477_482del c.145+5912_145+5917del n.571_576del n.522_527del | |
| 11 | g.112094923C>A | CA016721 | SDHD | c.*172C>A (n.*172C>A) c.314+5912C>A (n.314+5912C>A) c.433C>A (p.His145Asn) c.316C>A (p.His106Asn) n.319+5912C>A c.*131C>A (n.*131C>A) c.*30C>A (n.*30C>A) c.477C>A c.145+5912C>A n.571C>A n.522C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112094923C= | CA2000554082 | SDHD | c.*172C= (n.*172C=) c.314+5912C= (n.314+5912C=) c.433C= (p.His145=) c.316C= (p.His106=) n.319+5912C= c.*131C= (n.*131C=) c.*30C= (n.*30C=) c.477C= c.145+5912C= n.571C= n.522C= | |
| 11 | g.112094923C>G | CA382619393 | SDHD | c.*172C>G (n.*172C>G) c.314+5912C>G (n.314+5912C>G) c.433C>G (p.His145Asp) c.316C>G (p.His106Asp) n.319+5912C>G c.*131C>G (n.*131C>G) c.*30C>G (n.*30C>G) c.477C>G c.145+5912C>G n.571C>G n.522C>G | |
| 11 | g.112094923C>T | CA382619396 | SDHD | c.*172C>T (n.*172C>T) c.314+5912C>T (n.314+5912C>T) c.433C>T (p.His145Tyr) c.316C>T (p.His106Tyr) n.319+5912C>T c.*131C>T (n.*131C>T) c.*30C>T (n.*30C>T) c.477C>T c.145+5912C>T n.571C>T n.522C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094924A>C | CA382619399 | SDHD | c.*173A>C (n.*173A>C) c.314+5913A>C (n.314+5913A>C) c.434A>C (p.His145Pro) c.317A>C (p.His106Pro) n.319+5913A>C c.*132A>C (n.*132A>C) c.*31A>C (n.*31A>C) c.478A>C c.145+5913A>C n.572A>C n.523A>C | |
| 11 | g.112094924A>G | CA382619401 | SDHD | c.*173A>G (n.*173A>G) c.314+5913A>G (n.314+5913A>G) c.434A>G (p.His145Arg) c.317A>G (p.His106Arg) n.319+5913A>G c.*132A>G (n.*132A>G) c.*31A>G (n.*31A>G) c.478A>G c.145+5913A>G n.572A>G n.523A>G | |
| 11 | g.112094924A>T | CA382619402 | SDHD | c.*173A>T (n.*173A>T) c.314+5913A>T (n.314+5913A>T) c.434A>T (p.His145Leu) c.317A>T (p.His106Leu) n.319+5913A>T c.*132A>T (n.*132A>T) c.*31A>T (n.*31A>T) c.478A>T c.145+5913A>T n.572A>T n.523A>T | |
| 11 | g.112094925C>A | CA382619404 | SDHD | c.*174C>A (n.*174C>A) c.314+5914C>A (n.314+5914C>A) c.435C>A (p.His145Gln) c.318C>A (p.His106Gln) n.319+5914C>A c.*133C>A (n.*133C>A) c.*32C>A (n.*32C>A) c.479C>A c.145+5914C>A n.573C>A n.524C>A | ClinVar |
| 11 | g.112094925C= | CA2000554085 | SDHD | c.*174C= (n.*174C=) c.314+5914C= (n.314+5914C=) c.435C= (p.His145=) c.318C= (p.His106=) n.319+5914C= c.*133C= (n.*133C=) c.*32C= (n.*32C=) c.479C= c.145+5914C= n.573C= n.524C= | |
| 11 | g.112094925C>G | CA382619403 | SDHD | c.*174C>G (n.*174C>G) c.314+5914C>G (n.314+5914C>G) c.435C>G (p.His145Gln) c.318C>G (p.His106Gln) n.319+5914C>G c.*133C>G (n.*133C>G) c.*32C>G (n.*32C>G) c.479C>G c.145+5914C>G n.573C>G n.524C>G | |
| 11 | g.112094925C>T | CA071406 | SDHD | c.*174C>T (n.*174C>T) c.314+5914C>T (n.314+5914C>T) c.435C>T (p.His145=) c.318C>T (p.His106=) n.319+5914C>T c.*133C>T (n.*133C>T) c.*32C>T (n.*32C>T) c.479C>T c.145+5914C>T n.573C>T n.524C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094926G>A | CA382619406 | SDHD | c.*175G>A (n.*175G>A) c.314+5915G>A (n.314+5915G>A) c.436G>A (p.Asp146Asn) c.319G>A (p.Asp107Asn) n.319+5915G>A c.*134G>A (n.*134G>A) c.*33G>A (n.*33G>A) c.480G>A c.145+5915G>A n.574G>A n.525G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094926G>C | CA382619408 | SDHD | c.*175G>C (n.*175G>C) c.314+5915G>C (n.314+5915G>C) c.436G>C (p.Asp146His) c.319G>C (p.Asp107His) n.319+5915G>C c.*134G>C (n.*134G>C) c.*33G>C (n.*33G>C) c.480G>C c.145+5915G>C n.574G>C n.525G>C | ClinVar COSMIC |
| 11 | g.112094926G= | CA2000554092 | SDHD | c.*175G= (n.*175G=) c.314+5915G= (n.314+5915G=) c.436G= (p.Asp146=) c.319G= (p.Asp107=) n.319+5915G= c.*134G= (n.*134G=) c.*33G= (n.*33G=) c.480G= c.145+5915G= n.574G= n.525G= | |
| 11 | g.112094926G>T | CA382619410 | SDHD | c.*175G>T (n.*175G>T) c.314+5915G>T (n.314+5915G>T) c.436G>T (p.Asp146Tyr) c.319G>T (p.Asp107Tyr) n.319+5915G>T c.*134G>T (n.*134G>T) c.*33G>T (n.*33G>T) c.480G>T c.145+5915G>T n.574G>T n.525G>T | ClinVar dbSNP |
| 11 | g.112094927A>C | CA382619412 | SDHD | c.*176A>C (n.*176A>C) c.314+5916A>C (n.314+5916A>C) c.437A>C (p.Asp146Ala) c.320A>C (p.Asp107Ala) n.319+5916A>C c.*135A>C (n.*135A>C) c.*34A>C (n.*34A>C) c.481A>C c.145+5916A>C n.575A>C n.526A>C | |
| 11 | g.112094927A>G | CA382619415 | SDHD | c.*176A>G (n.*176A>G) c.314+5916A>G (n.314+5916A>G) c.437A>G (p.Asp146Gly) c.320A>G (p.Asp107Gly) n.319+5916A>G c.*135A>G (n.*135A>G) c.*34A>G (n.*34A>G) c.481A>G c.145+5916A>G n.575A>G n.526A>G | |
| 11 | g.112094927A>T | CA382619416 | SDHD | c.*176A>T (n.*176A>T) c.314+5916A>T (n.314+5916A>T) c.437A>T (p.Asp146Val) c.320A>T (p.Asp107Val) n.319+5916A>T c.*135A>T (n.*135A>T) c.*34A>T (n.*34A>T) c.481A>T c.145+5916A>T n.575A>T n.526A>T | gnomAD v4 |
| 11 | g.112094928T>A | CA382619419 | SDHD | c.*177T>A (n.*177T>A) c.314+5917T>A (n.314+5917T>A) c.438T>A (p.Asp146Glu) c.321T>A (p.Asp107Glu) n.319+5917T>A c.*136T>A (n.*136T>A) c.*35T>A (n.*35T>A) c.482T>A c.145+5917T>A n.576T>A n.527T>A | |
| 11 | g.112094928T>C | CA071414 | SDHD | c.*177T>C (n.*177T>C) c.314+5917T>C (n.314+5917T>C) c.438T>C (p.Asp146=) c.321T>C (p.Asp107=) n.319+5917T>C c.*136T>C (n.*136T>C) c.*35T>C (n.*35T>C) c.482T>C c.145+5917T>C n.576T>C n.527T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094928T>G | CA382619421 | SDHD | c.*177T>G (n.*177T>G) c.314+5917T>G (n.314+5917T>G) c.438T>G (p.Asp146Glu) c.321T>G (p.Asp107Glu) n.319+5917T>G c.*136T>G (n.*136T>G) c.*35T>G (n.*35T>G) c.482T>G c.145+5917T>G n.576T>G n.527T>G | |
| 11 | g.112094928T= | CA2000554098 | SDHD | c.*177T= (n.*177T=) c.314+5917T= (n.314+5917T=) c.438T= (p.Asp146=) c.321T= (p.Asp107=) n.319+5917T= c.*136T= (n.*136T=) c.*35T= (n.*35T=) c.482T= c.145+5917T= n.576T= n.527T= | |
| 11 | g.112094929G>A | CA382619424 | SDHD | c.*178G>A (n.*178G>A) c.314+5918G>A (n.314+5918G>A) c.439G>A (p.Val147Met) c.322G>A (p.Val108Met) n.319+5918G>A c.*137G>A (n.*137G>A) c.*36G>A (n.*36G>A) c.483G>A c.145+5918G>A n.577G>A n.528G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094929G>C | CA382619426 | SDHD | c.*178G>C (n.*178G>C) c.314+5918G>C (n.314+5918G>C) c.439G>C (p.Val147Leu) c.322G>C (p.Val108Leu) n.319+5918G>C c.*137G>C (n.*137G>C) c.*36G>C (n.*36G>C) c.483G>C c.145+5918G>C n.577G>C n.528G>C | |
| 11 | g.112094929G= | CA2000554102 | SDHD | c.*178G= (n.*178G=) c.314+5918G= (n.314+5918G=) c.439G= (p.Val147=) c.322G= (p.Val108=) n.319+5918G= c.*137G= (n.*137G=) c.*36G= (n.*36G=) c.483G= c.145+5918G= n.577G= n.528G= | |
| 11 | g.112094929G>T | CA382619429 | SDHD | c.*178G>T (n.*178G>T) c.314+5918G>T (n.314+5918G>T) c.439G>T (p.Val147Leu) c.322G>T (p.Val108Leu) n.319+5918G>T c.*137G>T (n.*137G>T) c.*36G>T (n.*36G>T) c.483G>T c.145+5918G>T n.577G>T n.528G>T | |
| 11 | g.112094930T>A | CA382619436 | SDHD | c.*179T>A (n.*179T>A) c.314+5919T>A (n.314+5919T>A) c.440T>A (p.Val147Glu) c.323T>A (p.Val108Glu) n.319+5919T>A c.*138T>A (n.*138T>A) c.*37T>A (n.*37T>A) c.484T>A c.145+5919T>A n.578T>A n.529T>A | |
| 11 | g.112094930T>C | CA382619441 | SDHD | c.*179T>C (n.*179T>C) c.314+5919T>C (n.314+5919T>C) c.440T>C (p.Val147Ala) c.323T>C (p.Val108Ala) n.319+5919T>C c.*138T>C (n.*138T>C) c.*37T>C (n.*37T>C) c.484T>C c.145+5919T>C n.578T>C n.529T>C | gnomAD v4 |
| 11 | g.112094930T>G | CA382619438 | SDHD | c.*179T>G (n.*179T>G) c.314+5919T>G (n.314+5919T>G) c.440T>G (p.Val147Gly) c.323T>G (p.Val108Gly) n.319+5919T>G c.*138T>G (n.*138T>G) c.*37T>G (n.*37T>G) c.484T>G c.145+5919T>G n.578T>G n.529T>G | gnomAD v4 |
| 11 | g.112094930_112094931delinsTG | CA2000554104 | SDHD | c.*179_*180delinsTG (n.*179_*180delinsTG) c.314+5919_314+5920delinsTG (n.314+5919_314+5920delinsTG) c.440_441delinsTG (p.Val147=) c.323_324delinsTG (p.Val108=) n.319+5919_319+5920delinsTG c.*138_*139delinsTG (n.*138_*139delinsTG) c.*37_*38delinsTG (n.*37_*38delinsTG) c.484_485delinsTG c.145+5919_145+5920delinsTG n.578_579delinsTG n.529_530delinsTG | |
| 11 | g.112094931G>A | CA476790988 | SDHD | c.*180G>A (n.*180G>A) c.314+5920G>A (n.314+5920G>A) c.441G>A (p.Val147=) c.324G>A (p.Val108=) n.319+5920G>A c.*139G>A (n.*139G>A) c.*38G>A (n.*38G>A) c.485G>A c.145+5920G>A n.579G>A n.530G>A | |
| 11 | g.112094931G>C | CA476790986 | SDHD | c.*180G>C (n.*180G>C) c.314+5920G>C (n.314+5920G>C) c.441G>C (p.Val147=) c.324G>C (p.Val108=) n.319+5920G>C c.*139G>C (n.*139G>C) c.*38G>C (n.*38G>C) c.485G>C c.145+5920G>C n.579G>C n.530G>C | |
| 11 | g.112094931G>T | CA476790987 | SDHD | c.*180G>T (n.*180G>T) c.314+5920G>T (n.314+5920G>T) c.441G>T (p.Val147=) c.324G>T (p.Val108=) n.319+5920G>T c.*139G>T (n.*139G>T) c.*38G>T (n.*38G>T) c.485G>T c.145+5920G>T n.579G>T n.530G>T | |
| 11 | g.112094933del | CA017041 | SDHD | c.*182del (n.*182del) c.314+5922del (n.314+5922del) c.443del (p.Gly148AlafsTer20) c.326del (p.Gly109AlafsTer20) n.319+5922del c.*141del (n.*141del) c.*40del (n.*40del) c.487del c.145+5922del n.581del n.532del | ClinVar dbSNP |
| 11 | g.112094932G>A | CA382619445 | SDHD | c.*181G>A (n.*181G>A) c.314+5921G>A (n.314+5921G>A) c.442G>A (p.Gly148Ser) c.325G>A (p.Gly109Ser) n.319+5921G>A c.*140G>A (n.*140G>A) c.*39G>A (n.*39G>A) c.486G>A c.145+5921G>A n.580G>A n.531G>A | |
| 11 | g.112094932G>C | CA382619447 | SDHD | c.*181G>C (n.*181G>C) c.314+5921G>C (n.314+5921G>C) c.442G>C (p.Gly148Arg) c.325G>C (p.Gly109Arg) n.319+5921G>C c.*140G>C (n.*140G>C) c.*39G>C (n.*39G>C) c.486G>C c.145+5921G>C n.580G>C n.531G>C | |
| 11 | g.112094932G>T | CA382619450 | SDHD | c.*181G>T (n.*181G>T) c.314+5921G>T (n.314+5921G>T) c.442G>T (p.Gly148Cys) c.325G>T (p.Gly109Cys) n.319+5921G>T c.*140G>T (n.*140G>T) c.*39G>T (n.*39G>T) c.486G>T c.145+5921G>T n.580G>T n.531G>T | |
| 11 | g.112094933G>A | CA382619454 | SDHD | c.*182G>A (n.*182G>A) c.314+5922G>A (n.314+5922G>A) c.443G>A (p.Gly148Asp) c.326G>A (p.Gly109Asp) n.319+5922G>A c.*141G>A (n.*141G>A) c.*40G>A (n.*40G>A) c.487G>A c.145+5922G>A n.581G>A n.532G>A | ClinVar dbSNP |
| 11 | g.112094933G>C | CA382619456 | SDHD | c.*182G>C (n.*182G>C) c.314+5922G>C (n.314+5922G>C) c.443G>C (p.Gly148Ala) c.326G>C (p.Gly109Ala) n.319+5922G>C c.*141G>C (n.*141G>C) c.*40G>C (n.*40G>C) c.487G>C c.145+5922G>C n.581G>C n.532G>C | |
| 11 | g.112094933G= | CA2000554113 | SDHD | c.*182G= (n.*182G=) c.314+5922G= (n.314+5922G=) c.443G= (p.Gly148=) c.326G= (p.Gly109=) n.319+5922G= c.*141G= (n.*141G=) c.*40G= (n.*40G=) c.487G= c.145+5922G= n.581G= n.532G= | |
| 11 | g.112094933G>T | CA382619459 | SDHD | c.*182G>T (n.*182G>T) c.314+5922G>T (n.314+5922G>T) c.443G>T (p.Gly148Val) c.326G>T (p.Gly109Val) n.319+5922G>T c.*141G>T (n.*141G>T) c.*40G>T (n.*40G>T) c.487G>T c.145+5922G>T n.581G>T n.532G>T | ClinVar dbSNP |
| 11 | g.112094933_112094934delinsGC | CA2000554117 | SDHD | c.*182_*183delinsGC (n.*182_*183delinsGC) c.314+5922_314+5923delinsGC (n.314+5922_314+5923delinsGC) c.443_444delinsGC (p.Gly148=) c.326_327delinsGC (p.Gly109=) n.319+5922_319+5923delinsGC c.*141_*142delinsGC (n.*141_*142delinsGC) c.*40_*41delinsGC (n.*40_*41delinsGC) c.487_488delinsGC c.145+5922_145+5923delinsGC n.581_582delinsGC n.532_533delinsGC | |
| 11 | g.112094933_112094934delinsTT | CA658658107 | SDHD | c.*182_*183delinsTT (n.*182_*183delinsTT) c.314+5922_314+5923delinsTT (n.314+5922_314+5923delinsTT) c.443_444delinsTT (p.Gly148Val) c.326_327delinsTT (p.Gly109Val) n.319+5922_319+5923delinsTT c.*141_*142delinsTT (n.*141_*142delinsTT) c.*40_*41delinsTT (n.*40_*41delinsTT) c.487_488delinsTT c.145+5922_145+5923delinsTT n.581_582delinsTT n.532_533delinsTT | ClinVar dbSNP |
| 11 | g.112094934C>A | CA071419 | SDHD | c.*183C>A (n.*183C>A) c.314+5923C>A (n.314+5923C>A) c.444C>A (p.Gly148=) c.327C>A (p.Gly109=) n.319+5923C>A c.*142C>A (n.*142C>A) c.*41C>A (n.*41C>A) c.488C>A c.145+5923C>A n.582C>A n.533C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.112094934C= | CA2000554123 | SDHD | c.*183C= (n.*183C=) c.314+5923C= (n.314+5923C=) c.444C= (p.Gly148=) c.327C= (p.Gly109=) n.319+5923C= c.*142C= (n.*142C=) c.*41C= (n.*41C=) c.488C= c.145+5923C= n.582C= n.533C= |