UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.112094876dup | CA2695215338 | SDHD | c.*125dup (n.*125dup) c.314+5865dup (n.314+5865dup) c.386dup (p.Leu129PhefsTer?) c.269dup (p.Leu90PhefsTer?) n.319+5865dup c.*84dup (n.*84dup) c.241dup (p.Trp81LeufsTer?) c.379dup (p.Trp127LeufsTer?) c.430dup c.145+5865dup n.524dup n.475dup | |
| 11 | g.112094873_112094876dup | CA1139662340 | SDHD | c.*122_*125dup (n.*122_*125dup) c.314+5862_314+5865dup (n.314+5862_314+5865dup) c.383_386dup (p.Leu129PhefsTer?) c.266_269dup (p.Leu90PhefsTer?) n.319+5862_319+5865dup c.*81_*84dup (n.*81_*84dup) c.238_241dup (p.Trp81PhefsTer?) c.376_379dup (p.Trp127PhefsTer?) c.427_430dup c.145+5862_145+5865dup n.521_524dup n.472_475dup | ClinVar dbSNP |
| 11 | g.112094876del | CA279936 | SDHD | c.*125del (n.*125del) c.314+5865del (n.314+5865del) c.386del (p.Leu129TrpfsTer6) c.269del (p.Leu90TrpfsTer6) n.319+5865del c.*84del (n.*84del) c.241del (p.Trp81GlyfsTer?) c.379del (p.Trp127GlyfsTer?) c.430del c.145+5865del n.524del n.475del | ClinVar dbSNP |
| 11 | g.112094876T>A | CA382619131 | SDHD | c.*125T>A (n.*125T>A) c.314+5865T>A (n.314+5865T>A) c.386T>A (p.Leu129Ter) c.269T>A (p.Leu90Ter) n.319+5865T>A c.*84T>A (n.*84T>A) c.241T>A (p.Trp81Arg) c.379T>A (p.Trp127Arg) c.430T>A c.145+5865T>A n.524T>A n.475T>A | |
| 11 | g.112094876T>C | CA228555686 | SDHD | c.*125T>C (n.*125T>C) c.314+5865T>C (n.314+5865T>C) c.386T>C (p.Leu129Ser) c.269T>C (p.Leu90Ser) n.319+5865T>C c.*84T>C (n.*84T>C) c.241T>C (p.Trp81Arg) c.379T>C (p.Trp127Arg) c.430T>C c.145+5865T>C n.524T>C n.475T>C | ClinVar dbSNP COSMIC |
| 11 | g.112094876T>G | CA382619134 | SDHD | c.*125T>G (n.*125T>G) c.314+5865T>G (n.314+5865T>G) c.386T>G (p.Leu129Trp) c.269T>G (p.Leu90Trp) n.319+5865T>G c.*84T>G (n.*84T>G) c.241T>G (p.Trp81Gly) c.379T>G (p.Trp127Gly) c.430T>G c.145+5865T>G n.524T>G n.475T>G | ClinVar dbSNP |
| 11 | g.112094876T= | CA2000553987 | SDHD | c.*125T= (n.*125T=) c.314+5865T= (n.314+5865T=) c.386T= (p.Leu129=) c.269T= (p.Leu90=) n.319+5865T= c.*84T= (n.*84T=) c.241T= (p.Trp81=) c.379T= (p.Trp127=) c.430T= c.145+5865T= n.524T= n.475T= | |
| 11 | g.112094877G>A | CA382619137 | SDHD | c.*126G>A (n.*126G>A) c.314+5866G>A (n.314+5866G>A) c.387G>A (p.Leu129=) c.270G>A (p.Leu90=) n.319+5866G>A c.*85G>A (n.*85G>A) c.242G>A (p.Trp81Ter) c.380G>A (p.Trp127Ter) c.431G>A c.145+5866G>A n.525G>A n.476G>A | |
| 11 | g.112094877G>C | CA382619139 | SDHD | c.*126G>C (n.*126G>C) c.314+5866G>C (n.314+5866G>C) c.387G>C (p.Leu129Phe) c.270G>C (p.Leu90Phe) n.319+5866G>C c.*85G>C (n.*85G>C) c.242G>C (p.Trp81Ser) c.380G>C (p.Trp127Ser) c.431G>C c.145+5866G>C n.525G>C n.476G>C | |
| 11 | g.112094877G>T | CA382619141 | SDHD | c.*126G>T (n.*126G>T) c.314+5866G>T (n.314+5866G>T) c.387G>T (p.Leu129Phe) c.270G>T (p.Leu90Phe) n.319+5866G>T c.*85G>T (n.*85G>T) c.242G>T (p.Trp81Leu) c.380G>T (p.Trp127Leu) c.431G>T c.145+5866G>T n.525G>T n.476G>T | dbSNP |
| 11 | g.112094878dup | CA645369586 | SDHD | c.*127dup (n.*127dup) c.314+5867dup (n.314+5867dup) c.388dup (p.Ala130GlyfsTer?) c.271dup (p.Ala91GlyfsTer?) n.319+5867dup c.*86dup (n.*86dup) c.243dup (p.His82AlafsTer?) c.381dup (p.His128AlafsTer?) c.432dup c.145+5867dup n.526dup n.477dup | ClinVar dbSNP |
| 11 | g.112094877_112094878dup | CA2695215339 | SDHD | c.*126_*127dup (n.*126_*127dup) c.314+5866_314+5867dup (n.314+5866_314+5867dup) c.387_388dup (p.Ala130GlyfsTer6) c.270_271dup (p.Ala91GlyfsTer6) n.319+5866_319+5867dup c.*85_*86dup (n.*85_*86dup) c.242_243dup (p.His82GlyfsTer?) c.380_381dup (p.His128GlyfsTer?) c.431_432dup c.145+5866_145+5867dup n.525_526dup n.476_477dup | |
| 11 | g.112094878G>A | CA382619144 | SDHD | c.*127G>A (n.*127G>A) c.314+5867G>A (n.314+5867G>A) c.388G>A (p.Ala130Thr) c.271G>A (p.Ala91Thr) n.319+5867G>A c.*86G>A (n.*86G>A) c.243G>A (p.Trp81Ter) c.381G>A (p.Trp127Ter) c.432G>A c.145+5867G>A n.526G>A n.477G>A | |
| 11 | g.112094878G>C | CA382619147 | SDHD | c.*127G>C (n.*127G>C) c.314+5867G>C (n.314+5867G>C) c.388G>C (p.Ala130Pro) c.271G>C (p.Ala91Pro) n.319+5867G>C c.*86G>C (n.*86G>C) c.243G>C (p.Trp81Cys) c.381G>C (p.Trp127Cys) c.432G>C c.145+5867G>C n.526G>C n.477G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112094878G= | CA2000553991 | SDHD | c.*127G= (n.*127G=) c.314+5867G= (n.314+5867G=) c.388G= (p.Ala130=) c.271G= (p.Ala91=) n.319+5867G= c.*86G= (n.*86G=) c.243G= (p.Trp81=) c.381G= (p.Trp127=) c.432G= c.145+5867G= n.526G= n.477G= | |
| 11 | g.112094878G>T | CA382619148 | SDHD | c.*127G>T (n.*127G>T) c.314+5867G>T (n.314+5867G>T) c.388G>T (p.Ala130Ser) c.271G>T (p.Ala91Ser) n.319+5867G>T c.*86G>T (n.*86G>T) c.243G>T (p.Trp81Cys) c.381G>T (p.Trp127Cys) c.432G>T c.145+5867G>T n.526G>T n.477G>T | ClinVar dbSNP |
| 11 | g.112094879C>A | CA228555690 | SDHD | c.*128C>A (n.*128C>A) c.314+5868C>A (n.314+5868C>A) c.389C>A (p.Ala130Glu) c.272C>A (p.Ala91Glu) n.319+5868C>A c.*87C>A (n.*87C>A) c.244C>A (p.His82Asn) c.382C>A (p.His128Asn) c.433C>A c.145+5868C>A n.527C>A n.478C>A | dbSNP |
| 11 | g.112094879C= | CA2000553997 | SDHD | c.*128C= (n.*128C=) c.314+5868C= (n.314+5868C=) c.389C= (p.Ala130=) c.272C= (p.Ala91=) n.319+5868C= c.*87C= (n.*87C=) c.244C= (p.His82=) c.382C= (p.His128=) c.433C= c.145+5868C= n.527C= n.478C= | |
| 11 | g.112094879C>G | CA382619151 | SDHD | c.*128C>G (n.*128C>G) c.314+5868C>G (n.314+5868C>G) c.389C>G (p.Ala130Gly) c.272C>G (p.Ala91Gly) n.319+5868C>G c.*87C>G (n.*87C>G) c.244C>G (p.His82Asp) c.382C>G (p.His128Asp) c.433C>G c.145+5868C>G n.527C>G n.478C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094879C>T | CA382619153 | SDHD | c.*128C>T (n.*128C>T) c.314+5868C>T (n.314+5868C>T) c.389C>T (p.Ala130Val) c.272C>T (p.Ala91Val) n.319+5868C>T c.*87C>T (n.*87C>T) c.244C>T (p.His82Tyr) c.382C>T (p.His128Tyr) c.433C>T c.145+5868C>T n.527C>T n.478C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094880A= | CA2000554000 | SDHD | c.*129A= (n.*129A=) c.314+5869A= (n.314+5869A=) c.390A= (p.Ala130=) c.273A= (p.Ala91=) n.319+5869A= c.*88A= (n.*88A=) c.245A= (p.His82=) c.383A= (p.His128=) c.434A= c.145+5869A= n.528A= n.479A= | |
| 11 | g.112094880A>C | CA382619157 | SDHD | c.*129A>C (n.*129A>C) c.314+5869A>C (n.314+5869A>C) c.390A>C (p.Ala130=) c.273A>C (p.Ala91=) n.319+5869A>C c.*88A>C (n.*88A>C) c.245A>C (p.His82Pro) c.383A>C (p.His128Pro) c.434A>C c.145+5869A>C n.528A>C n.479A>C | |
| 11 | g.112094880A>G | CA382619160 | SDHD | c.*129A>G (n.*129A>G) c.314+5869A>G (n.314+5869A>G) c.390A>G (p.Ala130=) c.273A>G (p.Ala91=) n.319+5869A>G c.*88A>G (n.*88A>G) c.245A>G (p.His82Arg) c.383A>G (p.His128Arg) c.434A>G c.145+5869A>G n.528A>G n.479A>G | ClinVar |
| 11 | g.112094880A>T | CA382619155 | SDHD | c.*129A>T (n.*129A>T) c.314+5869A>T (n.314+5869A>T) c.390A>T (p.Ala130=) c.273A>T (p.Ala91=) n.319+5869A>T c.*88A>T (n.*88A>T) c.245A>T (p.His82Leu) c.383A>T (p.His128Leu) c.434A>T c.145+5869A>T n.528A>T n.479A>T | dbSNP |
| 11 | g.112094881C>A | CA382619167 | SDHD | c.*130C>A (n.*130C>A) c.314+5870C>A (n.314+5870C>A) c.391C>A (p.Leu131Ile) c.274C>A (p.Leu92Ile) n.319+5870C>A c.*89C>A (n.*89C>A) c.246C>A (p.His82Gln) c.384C>A (p.His128Gln) c.435C>A c.145+5870C>A n.529C>A n.480C>A | |
| 11 | g.112094881C>G | CA382619162 | SDHD | c.*130C>G (n.*130C>G) c.314+5870C>G (n.314+5870C>G) c.391C>G (p.Leu131Val) c.274C>G (p.Leu92Val) n.319+5870C>G c.*89C>G (n.*89C>G) c.246C>G (p.His82Gln) c.384C>G (p.His128Gln) c.435C>G c.145+5870C>G n.529C>G n.480C>G | |
| 11 | g.112094881C>T | CA382619165 | SDHD | c.*130C>T (n.*130C>T) c.314+5870C>T (n.314+5870C>T) c.391C>T (p.Leu131Phe) c.274C>T (p.Leu92Phe) n.319+5870C>T c.*89C>T (n.*89C>T) c.246C>T (p.His82=) c.384C>T (p.His128=) c.435C>T c.145+5870C>T n.529C>T n.480C>T | ClinVar |
| 11 | g.112094881_112094882delinsCT | CA2000554002 | SDHD | c.*130_*131delinsCT (n.*130_*131delinsCT) c.314+5870_314+5871delinsCT (n.314+5870_314+5871delinsCT) c.391_392delinsCT (p.Leu131=) c.274_275delinsCT (p.Leu92=) n.319+5870_319+5871delinsCT c.*89_*90delinsCT (n.*89_*90delinsCT) c.246_247delinsCT (p.His82=) c.384_385delinsCT (p.His128=) c.435_436delinsCT c.145+5870_145+5871delinsCT n.529_530delinsCT n.480_481delinsCT | |
| 11 | g.112094882T>A | CA382619170 | SDHD | c.*131T>A (n.*131T>A) c.314+5871T>A (n.314+5871T>A) c.392T>A (p.Leu131His) c.275T>A (p.Leu92His) n.319+5871T>A c.*90T>A (n.*90T>A) c.247T>A (p.Phe83Ile) c.385T>A (p.Phe129Ile) c.436T>A c.145+5871T>A n.530T>A n.481T>A | |
| 11 | g.112094882T>C | CA382619171 | SDHD | c.*131T>C (n.*131T>C) c.314+5871T>C (n.314+5871T>C) c.392T>C (p.Leu131Pro) c.275T>C (p.Leu92Pro) n.319+5871T>C c.*90T>C (n.*90T>C) c.247T>C (p.Phe83Leu) c.385T>C (p.Phe129Leu) c.436T>C c.145+5871T>C n.530T>C n.481T>C | |
| 11 | g.112094882T>G | CA382619173 | SDHD | c.*131T>G (n.*131T>G) c.314+5871T>G (n.314+5871T>G) c.392T>G (p.Leu131Arg) c.275T>G (p.Leu92Arg) n.319+5871T>G c.*90T>G (n.*90T>G) c.247T>G (p.Phe83Val) c.385T>G (p.Phe129Val) c.436T>G c.145+5871T>G n.530T>G n.481T>G | |
| 11 | g.112094884del | CA16613229 | SDHD | c.*133del (n.*133del) c.314+5873del (n.314+5873del) c.394del (p.Ser132GlnfsTer3) c.277del (p.Ser93GlnfsTer3) n.319+5873del c.*92del (n.*92del) c.249del (p.Gln84SerfsTer?) c.387del (p.Gln130SerfsTer?) c.438del c.145+5873del n.532del n.483del | ClinVar dbSNP |
| 11 | g.112094883T>A | CA382619179 | SDHD | c.*132T>A (n.*132T>A) c.314+5872T>A (n.314+5872T>A) c.393T>A (p.Leu131=) c.276T>A (p.Leu92=) n.319+5872T>A c.*91T>A (n.*91T>A) c.248T>A (p.Phe83Tyr) c.386T>A (p.Phe129Tyr) c.437T>A c.145+5872T>A n.531T>A n.482T>A | |
| 11 | g.112094883T>C | CA382619178 | SDHD | c.*132T>C (n.*132T>C) c.314+5872T>C (n.314+5872T>C) c.393T>C (p.Leu131=) c.276T>C (p.Leu92=) n.319+5872T>C c.*91T>C (n.*91T>C) c.248T>C (p.Phe83Ser) c.386T>C (p.Phe129Ser) c.437T>C c.145+5872T>C n.531T>C n.482T>C | ClinVar |
| 11 | g.112094883T>G | CA382619176 | SDHD | c.*132T>G (n.*132T>G) c.314+5872T>G (n.314+5872T>G) c.393T>G (p.Leu131=) c.276T>G (p.Leu92=) n.319+5872T>G c.*91T>G (n.*91T>G) c.248T>G (p.Phe83Cys) c.386T>G (p.Phe129Cys) c.437T>G c.145+5872T>G n.531T>G n.482T>G | |
| 11 | g.112094884T>A | CA382619181 | SDHD | c.*133T>A (n.*133T>A) c.314+5873T>A (n.314+5873T>A) c.394T>A (p.Ser132Thr) c.277T>A (p.Ser93Thr) n.319+5873T>A c.*92T>A (n.*92T>A) c.249T>A (p.Phe83Leu) c.387T>A (p.Phe129Leu) c.438T>A c.145+5873T>A n.532T>A n.483T>A | |
| 11 | g.112094884T>C | CA382619183 | SDHD | c.*133T>C (n.*133T>C) c.314+5873T>C (n.314+5873T>C) c.394T>C (p.Ser132Pro) c.277T>C (p.Ser93Pro) n.319+5873T>C c.*92T>C (n.*92T>C) c.249T>C (p.Phe83=) c.387T>C (p.Phe129=) c.438T>C c.145+5873T>C n.532T>C n.483T>C | |
| 11 | g.112094884T>G | CA382619186 | SDHD | c.*133T>G (n.*133T>G) c.314+5873T>G (n.314+5873T>G) c.394T>G (p.Ser132Ala) c.277T>G (p.Ser93Ala) n.319+5873T>G c.*92T>G (n.*92T>G) c.249T>G (p.Phe83Leu) c.387T>G (p.Phe129Leu) c.438T>G c.145+5873T>G n.532T>G n.483T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094885C>A | CA382619188 | SDHD | c.*134C>A (n.*134C>A) c.314+5874C>A (n.314+5874C>A) c.395C>A (p.Ser132Ter) c.278C>A (p.Ser93Ter) n.319+5874C>A c.*93C>A (n.*93C>A) c.250C>A (p.Gln84Lys) c.388C>A (p.Gln130Lys) c.439C>A c.145+5874C>A n.533C>A n.484C>A | |
| 11 | g.112094885C>G | CA382619191 | SDHD | c.*134C>G (n.*134C>G) c.314+5874C>G (n.314+5874C>G) c.395C>G (p.Ser132Ter) c.278C>G (p.Ser93Ter) n.319+5874C>G c.*93C>G (n.*93C>G) c.250C>G (p.Gln84Glu) c.388C>G (p.Gln130Glu) c.439C>G c.145+5874C>G n.533C>G n.484C>G | ClinVar |
| 11 | g.112094885C>T | CA382619195 | SDHD | c.*134C>T (n.*134C>T) c.314+5874C>T (n.314+5874C>T) c.395C>T (p.Ser132Leu) c.278C>T (p.Ser93Leu) n.319+5874C>T c.*93C>T (n.*93C>T) c.250C>T (p.Gln84Ter) c.388C>T (p.Gln130Ter) c.439C>T c.145+5874C>T n.533C>T n.484C>T | ClinVar gnomAD v4 |
| 11 | g.112094886A>C | CA382619197 | SDHD | c.*135A>C (n.*135A>C) c.314+5875A>C (n.314+5875A>C) c.396A>C (p.Ser132=) c.279A>C (p.Ser93=) n.319+5875A>C c.*94A>C (n.*94A>C) c.251A>C (p.Gln84Pro) c.389A>C (p.Gln130Pro) c.440A>C c.145+5875A>C n.534A>C n.485A>C | ClinVar dbSNP |
| 11 | g.112094886A>G | CA382619201 | SDHD | c.*135A>G (n.*135A>G) c.314+5875A>G (n.314+5875A>G) c.396A>G (p.Ser132=) c.279A>G (p.Ser93=) n.319+5875A>G c.*94A>G (n.*94A>G) c.251A>G (p.Gln84Arg) c.389A>G (p.Gln130Arg) c.440A>G c.145+5875A>G n.534A>G n.485A>G | |
| 11 | g.112094886A>T | CA382619199 | SDHD | c.*135A>T (n.*135A>T) c.314+5875A>T (n.314+5875A>T) c.396A>T (p.Ser132=) c.279A>T (p.Ser93=) n.319+5875A>T c.*94A>T (n.*94A>T) c.251A>T (p.Gln84Leu) c.389A>T (p.Gln130Leu) c.440A>T c.145+5875A>T n.534A>T n.485A>T | ClinVar |
| 11 | g.112094887G>A | CA382619205 | SDHD | c.*136G>A (n.*136G>A) c.314+5876G>A (n.314+5876G>A) c.397G>A (p.Ala133Thr) c.280G>A (p.Ala94Thr) n.319+5876G>A c.*95G>A (n.*95G>A) c.252G>A (p.Gln84=) c.390G>A (p.Gln130=) c.441G>A c.145+5876G>A n.535G>A n.486G>A | ClinVar dbSNP |
| 11 | g.112094887G>C | CA16613234 | SDHD | c.*136G>C (n.*136G>C) c.314+5876G>C (n.314+5876G>C) c.397G>C (p.Ala133Pro) c.280G>C (p.Ala94Pro) n.319+5876G>C c.*95G>C (n.*95G>C) c.252G>C (p.Gln84His) c.390G>C (p.Gln130His) c.441G>C c.145+5876G>C n.535G>C n.486G>C | ClinVar dbSNP |