| 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.112094821_112094823del | CA645509539 | SDHD | c.*70_*72del (n.*70_*72del) c.314+5810_314+5812del (n.314+5810_314+5812del) c.331_333del (p.Val111del) c.214_216del (p.Val72del) n.319+5810_319+5812del c.*29_*31del (n.*29_*31del) c.186_188del (p.Leu63del) c.324_326del (p.Leu109del) c.375_377del c.145+5810_145+5812del n.469_471del n.420_422del | ClinVar dbSNP |
| 11 | g.112094823T>A | CA382618812 | SDHD | c.*72T>A (n.*72T>A) c.314+5812T>A (n.314+5812T>A) c.333T>A (p.Val111=) c.216T>A (p.Val72=) n.319+5812T>A c.*31T>A (n.*31T>A) c.188T>A (p.Leu63Ter) c.326T>A (p.Leu109Ter) c.377T>A c.145+5812T>A n.471T>A n.422T>A | |
| 11 | g.112094823T>C | CA382618815 | SDHD | c.*72T>C (n.*72T>C) c.314+5812T>C (n.314+5812T>C) c.333T>C (p.Val111=) c.216T>C (p.Val72=) n.319+5812T>C c.*31T>C (n.*31T>C) c.188T>C (p.Leu63Ser) c.326T>C (p.Leu109Ser) c.377T>C c.145+5812T>C n.471T>C n.422T>C | |
| 11 | g.112094823T>G | CA382618813 | SDHD | c.*72T>G (n.*72T>G) c.314+5812T>G (n.314+5812T>G) c.333T>G (p.Val111=) c.216T>G (p.Val72=) n.319+5812T>G c.*31T>G (n.*31T>G) c.188T>G (p.Leu63Ter) c.326T>G (p.Leu109Ter) c.377T>G c.145+5812T>G n.471T>G n.422T>G | |
| 11 | g.112094823_112094827delinsTACTG | CA2000553804 | SDHD | c.*72_*76delinsTACTG (n.*72_*76delinsTACTG) c.314+5812_314+5816delinsTACTG (n.314+5812_314+5816delinsTACTG) c.333_337delinsTACTG (p.Val111=) c.216_220delinsTACTG (p.Val72=) n.319+5812_319+5816delinsTACTG c.*31_*35delinsTACTG (n.*31_*35delinsTACTG) c.188_192delinsTACTG (p.Leu63=) c.326_330delinsTACTG (p.Leu109=) c.377_381delinsTACTG c.145+5812_145+5816delinsTACTG n.471_475delinsTACTG n.422_426delinsTACTG | |
| 11 | g.112094824A= | CA2000553809 | SDHD | c.*73A= (n.*73A=) c.314+5813A= (n.314+5813A=) c.334A= (p.Thr112=) c.217A= (p.Thr73=) n.319+5813A= c.*32A= (n.*32A=) c.189A= (p.Leu63=) c.327A= (p.Leu109=) c.378A= c.145+5813A= n.472A= n.423A= | |
| 11 | g.112094824A>C | CA382618817 | SDHD | c.*73A>C (n.*73A>C) c.314+5813A>C (n.314+5813A>C) c.334A>C (p.Thr112Pro) c.217A>C (p.Thr73Pro) n.319+5813A>C c.*32A>C (n.*32A>C) c.189A>C (p.Leu63Phe) c.327A>C (p.Leu109Phe) c.378A>C c.145+5813A>C n.472A>C n.423A>C | |
| 11 | g.112094824A>G | CA382618818 | SDHD | c.*73A>G (n.*73A>G) c.314+5813A>G (n.314+5813A>G) c.334A>G (p.Thr112Ala) c.217A>G (p.Thr73Ala) n.319+5813A>G c.*32A>G (n.*32A>G) c.189A>G (p.Leu63=) c.327A>G (p.Leu109=) c.378A>G c.145+5813A>G n.472A>G n.423A>G | ClinVar dbSNP |
| 11 | g.112094824A>T | CA382618819 | SDHD | c.*73A>T (n.*73A>T) c.314+5813A>T (n.314+5813A>T) c.334A>T (p.Thr112Ser) c.217A>T (p.Thr73Ser) n.319+5813A>T c.*32A>T (n.*32A>T) c.189A>T (p.Leu63Phe) c.327A>T (p.Leu109Phe) c.378A>T c.145+5813A>T n.472A>T n.423A>T | ClinVar |
| 11 | g.112094827_112094830del | CA016955 | SDHD | c.*76_*79del (n.*76_*79del) c.314+5816_314+5819del (n.314+5816_314+5819del) c.337_340del (p.Asp113MetfsTer21) c.220_223del (p.Asp74MetfsTer21) n.319+5816_319+5819del c.*35_*38del (n.*35_*38del) c.192_195del (p.Thr65CysfsTer?) c.330_333del (p.Thr111CysfsTer?) c.381_384del c.145+5816_145+5819del n.475_478del n.426_429del | ClinVar dbSNP |
| 11 | g.112094825C>A | CA382618821 | SDHD | c.*74C>A (n.*74C>A) c.314+5814C>A (n.314+5814C>A) c.335C>A (p.Thr112Asn) c.218C>A (p.Thr73Asn) n.319+5814C>A c.*33C>A (n.*33C>A) c.190C>A (p.Leu64Met) c.328C>A (p.Leu110Met) c.379C>A c.145+5814C>A n.473C>A n.424C>A | |
| 11 | g.112094825C= | CA2000553812 | SDHD | c.*74C= (n.*74C=) c.314+5814C= (n.314+5814C=) c.335C= (p.Thr112=) c.218C= (p.Thr73=) n.319+5814C= c.*33C= (n.*33C=) c.190C= (p.Leu64=) c.328C= (p.Leu110=) c.379C= c.145+5814C= n.473C= n.424C= | |
| 11 | g.112094825C>G | CA382618822 | SDHD | c.*74C>G (n.*74C>G) c.314+5814C>G (n.314+5814C>G) c.335C>G (p.Thr112Ser) c.218C>G (p.Thr73Ser) n.319+5814C>G c.*33C>G (n.*33C>G) c.190C>G (p.Leu64Val) c.328C>G (p.Leu110Val) c.379C>G c.145+5814C>G n.473C>G n.424C>G | |
| 11 | g.112094825C>T | CA071254 | SDHD | c.*74C>T (n.*74C>T) c.314+5814C>T (n.314+5814C>T) c.335C>T (p.Thr112Ile) c.218C>T (p.Thr73Ile) n.319+5814C>T c.*33C>T (n.*33C>T) c.190C>T (p.Leu64=) c.328C>T (p.Leu110=) c.379C>T c.145+5814C>T n.473C>T n.424C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094826T>A | CA382618825 | SDHD | c.*75T>A (n.*75T>A) c.314+5815T>A (n.314+5815T>A) c.336T>A (p.Thr112=) c.219T>A (p.Thr73=) n.319+5815T>A c.*34T>A (n.*34T>A) c.191T>A (p.Leu64Gln) c.329T>A (p.Leu110Gln) c.380T>A c.145+5815T>A n.474T>A n.425T>A | |
| 11 | g.112094826T>C | CA382618827 | SDHD | c.*75T>C (n.*75T>C) c.314+5815T>C (n.314+5815T>C) c.336T>C (p.Thr112=) c.219T>C (p.Thr73=) n.319+5815T>C c.*34T>C (n.*34T>C) c.191T>C (p.Leu64Pro) c.329T>C (p.Leu110Pro) c.380T>C c.145+5815T>C n.474T>C n.425T>C | ClinVar |
| 11 | g.112094826T>G | CA382618828 | SDHD | c.*75T>G (n.*75T>G) c.314+5815T>G (n.314+5815T>G) c.336T>G (p.Thr112=) c.219T>G (p.Thr73=) n.319+5815T>G c.*34T>G (n.*34T>G) c.191T>G (p.Leu64Arg) c.329T>G (p.Leu110Arg) c.380T>G c.145+5815T>G n.474T>G n.425T>G | |
| 11 | g.112094826dup | CA658821856 | SDHD | c.*75dup (n.*75dup) c.314+5815dup (n.314+5815dup) c.336dup (p.Asp113Ter) c.219dup (p.Asp74Ter) n.319+5815dup c.*34dup (n.*34dup) c.191dup (p.Thr65AspfsTer?) c.329dup (p.Thr111AspfsTer?) c.380dup c.145+5815dup n.474dup n.425dup | ClinVar dbSNP |
| 11 | g.112094827G>A | CA382618832 | SDHD | c.*76G>A (n.*76G>A) c.314+5816G>A (n.314+5816G>A) c.337G>A (p.Asp113Asn) c.220G>A (p.Asp74Asn) n.319+5816G>A c.*35G>A (n.*35G>A) c.192G>A (p.Leu64=) c.330G>A (p.Leu110=) c.381G>A c.145+5816G>A n.475G>A n.426G>A | |
| 11 | g.112094827G>C | CA382618834 | SDHD | c.*76G>C (n.*76G>C) c.314+5816G>C (n.314+5816G>C) c.337G>C (p.Asp113His) c.220G>C (p.Asp74His) n.319+5816G>C c.*35G>C (n.*35G>C) c.192G>C (p.Leu64=) c.330G>C (p.Leu110=) c.381G>C c.145+5816G>C n.475G>C n.426G>C | ClinVar |
| 11 | g.112094827G= | CA2000553820 | SDHD | c.*76G= (n.*76G=) c.314+5816G= (n.314+5816G=) c.337G= (p.Asp113=) c.220G= (p.Asp74=) n.319+5816G= c.*35G= (n.*35G=) c.192G= (p.Leu64=) c.330G= (p.Leu110=) c.381G= c.145+5816G= n.475G= n.426G= | |
| 11 | g.112094827G>T | CA382618830 | SDHD | c.*76G>T (n.*76G>T) c.314+5816G>T (n.314+5816G>T) c.337G>T (p.Asp113Tyr) c.220G>T (p.Asp74Tyr) n.319+5816G>T c.*35G>T (n.*35G>T) c.192G>T (p.Leu64=) c.330G>T (p.Leu110=) c.381G>T c.145+5816G>T n.475G>T n.426G>T | gnomAD v4 |
| 11 | g.112094827_112094828insT | CA016947 | SDHD | c.*76_*77insT (n.*76_*77insT) c.314+5816_314+5817insT (n.314+5816_314+5817insT) c.337_338insT (p.Asp113ValfsTer?) c.220_221insT (p.Asp74ValfsTer?) n.319+5816_319+5817insT c.*35_*36insT (n.*35_*36insT) c.192_193insT (p.Thr65TyrfsTer?) c.330_331insT (p.Thr111TyrfsTer?) c.381_382insT c.145+5816_145+5817insT n.475_476insT n.426_427insT | ClinVar dbSNP |
| 11 | g.112094828A= | CA2000553828 | SDHD | c.*77A= (n.*77A=) c.314+5817A= (n.314+5817A=) c.338A= (p.Asp113=) c.221A= (p.Asp74=) n.319+5817A= c.*36A= (n.*36A=) c.193A= (p.Thr65=) c.331A= (p.Thr111=) c.382A= c.145+5817A= n.476A= n.427A= | |
| 11 | g.112094828A>C | CA382618835 | SDHD | c.*77A>C (n.*77A>C) c.314+5817A>C (n.314+5817A>C) c.338A>C (p.Asp113Ala) c.221A>C (p.Asp74Ala) n.319+5817A>C c.*36A>C (n.*36A>C) c.193A>C (p.Thr65Pro) c.331A>C (p.Thr111Pro) c.382A>C c.145+5817A>C n.476A>C n.427A>C | |
| 11 | g.112094828A>G | CA382618837 | SDHD | c.*77A>G (n.*77A>G) c.314+5817A>G (n.314+5817A>G) c.338A>G (p.Asp113Gly) c.221A>G (p.Asp74Gly) n.319+5817A>G c.*36A>G (n.*36A>G) c.193A>G (p.Thr65Ala) c.331A>G (p.Thr111Ala) c.382A>G c.145+5817A>G n.476A>G n.427A>G | ClinVar dbSNP |
| 11 | g.112094828A>T | CA016960 | SDHD | c.*77A>T (n.*77A>T) c.314+5817A>T (n.314+5817A>T) c.338A>T (p.Asp113Val) c.221A>T (p.Asp74Val) n.319+5817A>T c.*36A>T (n.*36A>T) c.193A>T (p.Thr65Ser) c.331A>T (p.Thr111Ser) c.382A>T c.145+5817A>T n.476A>T n.427A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094829C>A | CA382618842 | SDHD | c.*78C>A (n.*78C>A) c.314+5818C>A (n.314+5818C>A) c.339C>A (p.Asp113Glu) c.222C>A (p.Asp74Glu) n.319+5818C>A c.*37C>A (n.*37C>A) c.194C>A (p.Thr65Asn) c.332C>A (p.Thr111Asn) c.383C>A c.145+5818C>A n.477C>A n.428C>A | |
| 11 | g.112094829C>G | CA382618841 | SDHD | c.*78C>G (n.*78C>G) c.314+5818C>G (n.314+5818C>G) c.339C>G (p.Asp113Glu) c.222C>G (p.Asp74Glu) n.319+5818C>G c.*37C>G (n.*37C>G) c.194C>G (p.Thr65Ser) c.332C>G (p.Thr111Ser) c.383C>G c.145+5818C>G n.477C>G n.428C>G | |
| 11 | g.112094829C>T | CA382618839 | SDHD | c.*78C>T (n.*78C>T) c.314+5818C>T (n.314+5818C>T) c.339C>T (p.Asp113=) c.222C>T (p.Asp74=) n.319+5818C>T c.*37C>T (n.*37C>T) c.194C>T (p.Thr65Ile) c.332C>T (p.Thr111Ile) c.383C>T c.145+5818C>T n.477C>T n.428C>T | |
| 11 | g.112094830T>A | CA10579347 | SDHD | c.*79T>A (n.*79T>A) c.314+5819T>A (n.314+5819T>A) c.340T>A (p.Tyr114Asn) c.223T>A (p.Tyr75Asn) n.319+5819T>A c.*38T>A (n.*38T>A) c.195T>A (p.Thr65=) c.333T>A (p.Thr111=) c.384T>A c.145+5819T>A n.478T>A n.429T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094830T>C | CA382618845 | SDHD | c.*79T>C (n.*79T>C) c.314+5819T>C (n.314+5819T>C) c.340T>C (p.Tyr114His) c.223T>C (p.Tyr75His) n.319+5819T>C c.*38T>C (n.*38T>C) c.195T>C (p.Thr65=) c.333T>C (p.Thr111=) c.384T>C c.145+5819T>C n.478T>C n.429T>C | ClinVar dbSNP |
| 11 | g.112094830T>G | CA382618847 | SDHD | c.*79T>G (n.*79T>G) c.314+5819T>G (n.314+5819T>G) c.340T>G (p.Tyr114Asp) c.223T>G (p.Tyr75Asp) n.319+5819T>G c.*38T>G (n.*38T>G) c.195T>G (p.Thr65=) c.333T>G (p.Thr111=) c.384T>G c.145+5819T>G n.478T>G n.429T>G | ClinVar dbSNP |
| 11 | g.112094830T= | CA2000553831 | SDHD | c.*79T= (n.*79T=) c.314+5819T= (n.314+5819T=) c.340T= (p.Tyr114=) c.223T= (p.Tyr75=) n.319+5819T= c.*38T= (n.*38T=) c.195T= (p.Thr65=) c.333T= (p.Thr111=) c.384T= c.145+5819T= n.478T= n.429T= | |
| 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 | ClinVar 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 |