| 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.112094853G>A | CA382618986 | SDHD | c.*102G>A (n.*102G>A) c.314+5842G>A (n.314+5842G>A) c.363G>A (p.Gln121=) c.246G>A (p.Gln82=) n.319+5842G>A c.*61G>A (n.*61G>A) c.218G>A (p.Arg73Lys) c.356G>A (p.Arg119Lys) c.407G>A c.145+5842G>A n.501G>A n.452G>A | ClinVar dbSNP |
| 11 | g.112094853G>C | CA382618989 | SDHD | c.*102G>C (n.*102G>C) c.314+5842G>C (n.314+5842G>C) c.363G>C (p.Gln121His) c.246G>C (p.Gln82His) n.319+5842G>C c.*61G>C (n.*61G>C) c.218G>C (p.Arg73Thr) c.356G>C (p.Arg119Thr) c.407G>C c.145+5842G>C n.501G>C n.452G>C | |
| 11 | g.112094853G>T | CA382618991 | SDHD | c.*102G>T (n.*102G>T) c.314+5842G>T (n.314+5842G>T) c.363G>T (p.Gln121His) c.246G>T (p.Gln82His) n.319+5842G>T c.*61G>T (n.*61G>T) c.218G>T (p.Arg73Ile) c.356G>T (p.Arg119Ile) c.407G>T c.145+5842G>T n.501G>T n.452G>T | |
| 11 | g.112094854A>C | CA382618992 | SDHD | c.*103A>C (n.*103A>C) c.314+5843A>C (n.314+5843A>C) c.364A>C (p.Lys122Gln) c.247A>C (p.Lys83Gln) n.319+5843A>C c.*62A>C (n.*62A>C) c.219A>C (p.Arg73Ser) c.357A>C (p.Arg119Ser) c.408A>C c.145+5843A>C n.502A>C n.453A>C | |
| 11 | g.112094854A>G | CA382618995 | SDHD | c.*103A>G (n.*103A>G) c.314+5843A>G (n.314+5843A>G) c.364A>G (p.Lys122Glu) c.247A>G (p.Lys83Glu) n.319+5843A>G c.*62A>G (n.*62A>G) c.219A>G (p.Arg73=) c.357A>G (p.Arg119=) c.408A>G c.145+5843A>G n.502A>G n.453A>G | |
| 11 | g.112094854A>T | CA382618993 | SDHD | c.*103A>T (n.*103A>T) c.314+5843A>T (n.314+5843A>T) c.364A>T (p.Lys122Ter) c.247A>T (p.Lys83Ter) n.319+5843A>T c.*62A>T (n.*62A>T) c.219A>T (p.Arg73Ser) c.357A>T (p.Arg119Ser) c.408A>T c.145+5843A>T n.502A>T n.453A>T | ClinVar |
| 11 | g.112094856del | CA2695215334 | SDHD | c.*105del (n.*105del) c.314+5845del (n.314+5845del) c.366del (p.Ala123LeufsTer12) c.249del (p.Ala84LeufsTer12) n.319+5845del c.*64del (n.*64del) c.221del (p.Lys74SerfsTer?) c.359del (p.Lys120SerfsTer?) c.410del c.145+5845del n.504del n.455del | |
| 11 | g.112094855A>C | CA382618997 | SDHD | c.*104A>C (n.*104A>C) c.314+5844A>C (n.314+5844A>C) c.365A>C (p.Lys122Thr) c.248A>C (p.Lys83Thr) n.319+5844A>C c.*63A>C (n.*63A>C) c.220A>C (p.Lys74Gln) c.358A>C (p.Lys120Gln) c.409A>C c.145+5844A>C n.503A>C n.454A>C | |
| 11 | g.112094855A>G | CA382618999 | SDHD | c.*104A>G (n.*104A>G) c.314+5844A>G (n.314+5844A>G) c.365A>G (p.Lys122Arg) c.248A>G (p.Lys83Arg) n.319+5844A>G c.*63A>G (n.*63A>G) c.220A>G (p.Lys74Glu) c.358A>G (p.Lys120Glu) c.409A>G c.145+5844A>G n.503A>G n.454A>G | ClinVar |
| 11 | g.112094855A>T | CA382619000 | SDHD | c.*104A>T (n.*104A>T) c.314+5844A>T (n.314+5844A>T) c.365A>T (p.Lys122Ile) c.248A>T (p.Lys83Ile) n.319+5844A>T c.*63A>T (n.*63A>T) c.220A>T (p.Lys74Ter) c.358A>T (p.Lys120Ter) c.409A>T c.145+5844A>T n.503A>T n.454A>T | |
| 11 | g.112094856A= | CA2000553928 | SDHD | c.*105A= (n.*105A=) c.314+5845A= (n.314+5845A=) c.366A= (p.Lys122=) c.249A= (p.Lys83=) n.319+5845A= c.*64A= (n.*64A=) c.221A= (p.Lys74=) c.359A= (p.Lys120=) c.410A= c.145+5845A= n.504A= n.455A= | |
| 11 | g.112094856A>C | CA382619001 | SDHD | c.*105A>C (n.*105A>C) c.314+5845A>C (n.314+5845A>C) c.366A>C (p.Lys122Asn) c.249A>C (p.Lys83Asn) n.319+5845A>C c.*64A>C (n.*64A>C) c.221A>C (p.Lys74Thr) c.359A>C (p.Lys120Thr) c.410A>C c.145+5845A>C n.504A>C n.455A>C | |
| 11 | g.112094856A>G | CA071307 | SDHD | c.*105A>G (n.*105A>G) c.314+5845A>G (n.314+5845A>G) c.366A>G (p.Lys122=) c.249A>G (p.Lys83=) n.319+5845A>G c.*64A>G (n.*64A>G) c.221A>G (p.Lys74Arg) c.359A>G (p.Lys120Arg) c.410A>G c.145+5845A>G n.504A>G n.455A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112094856A>T | CA382619003 | SDHD | c.*105A>T (n.*105A>T) c.314+5845A>T (n.314+5845A>T) c.366A>T (p.Lys122Asn) c.249A>T (p.Lys83Asn) n.319+5845A>T c.*64A>T (n.*64A>T) c.221A>T (p.Lys74Met) c.359A>T (p.Lys120Met) c.410A>T c.145+5845A>T n.504A>T n.455A>T | |
| 11 | g.112094857G>A | CA382619005 | SDHD | c.*106G>A (n.*106G>A) c.314+5846G>A (n.314+5846G>A) c.367G>A (p.Ala123Thr) c.250G>A (p.Ala84Thr) n.319+5846G>A c.*65G>A (n.*65G>A) c.222G>A (p.Lys74=) c.360G>A (p.Lys120=) c.411G>A c.145+5846G>A n.505G>A n.456G>A | dbSNP gnomAD v4 |
| 11 | g.112094857G>C | CA382619007 | SDHD | c.*106G>C (n.*106G>C) c.314+5846G>C (n.314+5846G>C) c.367G>C (p.Ala123Pro) c.250G>C (p.Ala84Pro) n.319+5846G>C c.*65G>C (n.*65G>C) c.222G>C (p.Lys74Asn) c.360G>C (p.Lys120Asn) c.411G>C c.145+5846G>C n.505G>C n.456G>C | dbSNP |
| 11 | g.112094857G>T | CA382619008 | SDHD | c.*106G>T (n.*106G>T) c.314+5846G>T (n.314+5846G>T) c.367G>T (p.Ala123Ser) c.250G>T (p.Ala84Ser) n.319+5846G>T c.*65G>T (n.*65G>T) c.222G>T (p.Lys74Asn) c.360G>T (p.Lys120Asn) c.411G>T c.145+5846G>T n.505G>T n.456G>T | |
| 11 | g.112094858C>A | CA382619010 | SDHD | c.*107C>A (n.*107C>A) c.314+5847C>A (n.314+5847C>A) c.368C>A (p.Ala123Asp) c.251C>A (p.Ala84Asp) n.319+5847C>A c.*66C>A (n.*66C>A) c.223C>A (p.Leu75Met) c.361C>A (p.Leu121Met) c.412C>A c.145+5847C>A n.506C>A n.457C>A | |
| 11 | g.112094858C>G | CA382619012 | SDHD | c.*107C>G (n.*107C>G) c.314+5847C>G (n.314+5847C>G) c.368C>G (p.Ala123Gly) c.251C>G (p.Ala84Gly) n.319+5847C>G c.*66C>G (n.*66C>G) c.223C>G (p.Leu75Val) c.361C>G (p.Leu121Val) c.412C>G c.145+5847C>G n.506C>G n.457C>G | |
| 11 | g.112094858C>T | CA382619013 | SDHD | c.*107C>T (n.*107C>T) c.314+5847C>T (n.314+5847C>T) c.368C>T (p.Ala123Val) c.251C>T (p.Ala84Val) n.319+5847C>T c.*66C>T (n.*66C>T) c.223C>T (p.Leu75=) c.361C>T (p.Leu121=) c.412C>T c.145+5847C>T n.506C>T n.457C>T | |
| 11 | g.112094859T>A | CA382619015 | SDHD | c.*108T>A (n.*108T>A) c.314+5848T>A (n.314+5848T>A) c.369T>A (p.Ala123=) c.252T>A (p.Ala84=) n.319+5848T>A c.*67T>A (n.*67T>A) c.224T>A (p.Leu75Gln) c.362T>A (p.Leu121Gln) c.413T>A c.145+5848T>A n.507T>A n.458T>A | |
| 11 | g.112094859T>C | CA382619016 | SDHD | c.*108T>C (n.*108T>C) c.314+5848T>C (n.314+5848T>C) c.369T>C (p.Ala123=) c.252T>C (p.Ala84=) n.319+5848T>C c.*67T>C (n.*67T>C) c.224T>C (p.Leu75Pro) c.362T>C (p.Leu121Pro) c.413T>C c.145+5848T>C n.507T>C n.458T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094859T>G | CA071312 | SDHD | c.*108T>G (n.*108T>G) c.314+5848T>G (n.314+5848T>G) c.369T>G (p.Ala123=) c.252T>G (p.Ala84=) n.319+5848T>G c.*67T>G (n.*67T>G) c.224T>G (p.Leu75Arg) c.362T>G (p.Leu121Arg) c.413T>G c.145+5848T>G n.507T>G n.458T>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.112094859T= | CA2000553936 | SDHD | c.*108T= (n.*108T=) c.314+5848T= (n.314+5848T=) c.369T= (p.Ala123=) c.252T= (p.Ala84=) n.319+5848T= c.*67T= (n.*67T=) c.224T= (p.Leu75=) c.362T= (p.Leu121=) c.413T= c.145+5848T= n.507T= n.458T= | |
| 11 | g.112094860del | CA2695215335 | SDHD | c.*109del (n.*109del) c.314+5849del (n.314+5849del) c.370del (p.Ala124ProfsTer11) c.253del (p.Ala85ProfsTer11) n.319+5849del c.*68del (n.*68del) c.225del (p.Pro76GlnfsTer?) c.363del (p.Pro122GlnfsTer?) c.414del c.145+5849del n.508del n.459del | |
| 11 | g.112094860G>A | CA382619018 | SDHD | c.*109G>A (n.*109G>A) c.314+5849G>A (n.314+5849G>A) c.370G>A (p.Ala124Thr) c.253G>A (p.Ala85Thr) n.319+5849G>A c.*68G>A (n.*68G>A) c.225G>A (p.Leu75=) c.363G>A (p.Leu121=) c.414G>A c.145+5849G>A n.508G>A n.459G>A | ClinVar dbSNP |
| 11 | g.112094860G>C | CA382619023 | SDHD | c.*109G>C (n.*109G>C) c.314+5849G>C (n.314+5849G>C) c.370G>C (p.Ala124Pro) c.253G>C (p.Ala85Pro) n.319+5849G>C c.*68G>C (n.*68G>C) c.225G>C (p.Leu75=) c.363G>C (p.Leu121=) c.414G>C c.145+5849G>C n.508G>C n.459G>C | dbSNP |
| 11 | g.112094860G= | CA2000553942 | SDHD | c.*109G= (n.*109G=) c.314+5849G= (n.314+5849G=) c.370G= (p.Ala124=) c.253G= (p.Ala85=) n.319+5849G= c.*68G= (n.*68G=) c.225G= (p.Leu75=) c.363G= (p.Leu121=) c.414G= c.145+5849G= n.508G= n.459G= | |
| 11 | g.112094860G>T | CA382619020 | SDHD | c.*109G>T (n.*109G>T) c.314+5849G>T (n.314+5849G>T) c.370G>T (p.Ala124Ser) c.253G>T (p.Ala85Ser) n.319+5849G>T c.*68G>T (n.*68G>T) c.225G>T (p.Leu75=) c.363G>T (p.Leu121=) c.414G>T c.145+5849G>T n.508G>T n.459G>T | ClinVar |
| 11 | g.112094861C>A | CA382619025 | SDHD | c.*110C>A (n.*110C>A) c.314+5850C>A (n.314+5850C>A) c.371C>A (p.Ala124Asp) c.254C>A (p.Ala85Asp) n.319+5850C>A c.*69C>A (n.*69C>A) c.226C>A (p.Pro76Thr) c.364C>A (p.Pro122Thr) c.415C>A c.145+5850C>A n.509C>A n.460C>A | |
| 11 | g.112094861C= | CA2000553948 | SDHD | c.*110C= (n.*110C=) c.314+5850C= (n.314+5850C=) c.371C= (p.Ala124=) c.254C= (p.Ala85=) n.319+5850C= c.*69C= (n.*69C=) c.226C= (p.Pro76=) c.364C= (p.Pro122=) c.415C= c.145+5850C= n.509C= n.460C= | |
| 11 | g.112094861C>G | CA382619031 | SDHD | c.*110C>G (n.*110C>G) c.314+5850C>G (n.314+5850C>G) c.371C>G (p.Ala124Gly) c.254C>G (p.Ala85Gly) n.319+5850C>G c.*69C>G (n.*69C>G) c.226C>G (p.Pro76Ala) c.364C>G (p.Pro122Ala) c.415C>G c.145+5850C>G n.509C>G n.460C>G | |
| 11 | g.112094861C>T | CA382619027 | SDHD | c.*110C>T (n.*110C>T) c.314+5850C>T (n.314+5850C>T) c.371C>T (p.Ala124Val) c.254C>T (p.Ala85Val) n.319+5850C>T c.*69C>T (n.*69C>T) c.226C>T (p.Pro76Ser) c.364C>T (p.Pro122Ser) c.415C>T c.145+5850C>T n.509C>T n.460C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094861_112094880delinsGG | CA2695215336 | SDHD | c.*110_*129delinsGG (n.*110_*129delinsGG) c.314+5850_314+5869delinsGG (n.314+5850_314+5869delinsGG) c.371_390delinsGG (p.Ala124_Ala130delinsGly) c.254_273delinsGG (p.Ala85_Ala91delinsGly) n.319+5850_319+5869delinsGG c.*69_*88delinsGG (n.*69_*88delinsGG) c.226_245delinsGG (p.Pro76_His82delinsGly) c.364_383delinsGG (p.Pro122_His128delinsGly) c.415_434delinsGG c.145+5850_145+5869delinsGG n.509_528delinsGG n.460_479delinsGG | |
| 11 | g.112094862C>A | CA382619034 | SDHD | c.*111C>A (n.*111C>A) c.314+5851C>A (n.314+5851C>A) c.372C>A (p.Ala124=) c.255C>A (p.Ala85=) n.319+5851C>A c.*70C>A (n.*70C>A) c.227C>A (p.Pro76Gln) c.365C>A (p.Pro122Gln) c.416C>A c.145+5851C>A n.510C>A n.461C>A | |
| 11 | g.112094862C>G | CA382619035 | SDHD | c.*111C>G (n.*111C>G) c.314+5851C>G (n.314+5851C>G) c.372C>G (p.Ala124=) c.255C>G (p.Ala85=) n.319+5851C>G c.*70C>G (n.*70C>G) c.227C>G (p.Pro76Arg) c.365C>G (p.Pro122Arg) c.416C>G c.145+5851C>G n.510C>G n.461C>G | ClinVar dbSNP |
| 11 | g.112094862C>T | CA382619036 | SDHD | c.*111C>T (n.*111C>T) c.314+5851C>T (n.314+5851C>T) c.372C>T (p.Ala124=) c.255C>T (p.Ala85=) n.319+5851C>T c.*70C>T (n.*70C>T) c.227C>T (p.Pro76Leu) c.365C>T (p.Pro122Leu) c.416C>T c.145+5851C>T n.510C>T n.461C>T | gnomAD v4 |
| 11 | g.112094863A>C | CA382619039 | SDHD | c.*112A>C (n.*112A>C) c.314+5852A>C (n.314+5852A>C) c.373A>C (p.Lys125Gln) c.256A>C (p.Lys86Gln) n.319+5852A>C c.*71A>C (n.*71A>C) c.228A>C (p.Pro76=) c.366A>C (p.Pro122=) c.417A>C c.145+5852A>C n.511A>C n.462A>C | |
| 11 | g.112094863A>G | CA382619040 | SDHD | c.*112A>G (n.*112A>G) c.314+5852A>G (n.314+5852A>G) c.373A>G (p.Lys125Glu) c.256A>G (p.Lys86Glu) n.319+5852A>G c.*71A>G (n.*71A>G) c.228A>G (p.Pro76=) c.366A>G (p.Pro122=) c.417A>G c.145+5852A>G n.511A>G n.462A>G | ClinVar |
| 11 | g.112094863A>T | CA382619042 | SDHD | c.*112A>T (n.*112A>T) c.314+5852A>T (n.314+5852A>T) c.373A>T (p.Lys125Ter) c.256A>T (p.Lys86Ter) n.319+5852A>T c.*71A>T (n.*71A>T) c.228A>T (p.Pro76=) c.366A>T (p.Pro122=) c.417A>T c.145+5852A>T n.511A>T n.462A>T | |
| 11 | g.112094864A= | CA2000553954 | SDHD | c.*113A= (n.*113A=) c.314+5853A= (n.314+5853A=) c.374A= (p.Lys125=) c.257A= (p.Lys86=) n.319+5853A= c.*72A= (n.*72A=) c.229A= (p.Arg77=) c.367A= (p.Arg123=) c.418A= c.145+5853A= n.512A= n.463A= | |
| 11 | g.112094864A>C | CA382619045 | SDHD | c.*113A>C (n.*113A>C) c.314+5853A>C (n.314+5853A>C) c.374A>C (p.Lys125Thr) c.257A>C (p.Lys86Thr) n.319+5853A>C c.*72A>C (n.*72A>C) c.229A>C (p.Arg77=) c.367A>C (p.Arg123=) c.418A>C c.145+5853A>C n.512A>C n.463A>C | |
| 11 | g.112094864A>G | CA382619046 | SDHD | c.*113A>G (n.*113A>G) c.314+5853A>G (n.314+5853A>G) c.374A>G (p.Lys125Arg) c.257A>G (p.Lys86Arg) n.319+5853A>G c.*72A>G (n.*72A>G) c.229A>G (p.Arg77Gly) c.367A>G (p.Arg123Gly) c.418A>G c.145+5853A>G n.512A>G n.463A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094864A>T | CA382619049 | SDHD | c.*113A>T (n.*113A>T) c.314+5853A>T (n.314+5853A>T) c.374A>T (p.Lys125Met) c.257A>T (p.Lys86Met) n.319+5853A>T c.*72A>T (n.*72A>T) c.229A>T (p.Arg77Trp) c.367A>T (p.Arg123Trp) c.418A>T c.145+5853A>T n.512A>T n.463A>T | gnomAD v4 |
| 11 | g.112094865G>A | CA382619051 | SDHD | c.*114G>A (n.*114G>A) c.314+5854G>A (n.314+5854G>A) c.375G>A (p.Lys125=) c.258G>A (p.Lys86=) n.319+5854G>A c.*73G>A (n.*73G>A) c.230G>A (p.Arg77Lys) c.368G>A (p.Arg123Lys) c.419G>A c.145+5854G>A n.513G>A n.464G>A | ClinVar |
| 11 | g.112094865G>C | CA382619055 | SDHD | c.*114G>C (n.*114G>C) c.314+5854G>C (n.314+5854G>C) c.375G>C (p.Lys125Asn) c.258G>C (p.Lys86Asn) n.319+5854G>C c.*73G>C (n.*73G>C) c.230G>C (p.Arg77Thr) c.368G>C (p.Arg123Thr) c.419G>C c.145+5854G>C n.513G>C n.464G>C | |
| 11 | g.112094865G= | CA2000553962 | SDHD | c.*114G= (n.*114G=) c.314+5854G= (n.314+5854G=) c.375G= (p.Lys125=) c.258G= (p.Lys86=) n.319+5854G= c.*73G= (n.*73G=) c.230G= (p.Arg77=) c.368G= (p.Arg123=) c.419G= c.145+5854G= n.513G= n.464G= |