Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17027750_17028737del | CA645509076 | SDHB | c.117_369+1del c.246_498+1del c.288_540+1del n.205_458del n.276_474+1del | ClinVar |
1 | g.17027795_17027798del | CA2573334482 | SDHB | c.323_326del (p.Glu108AlafsTer9) c.452_455del (p.Glu151AlafsTer9) c.494_497del (p.Glu165AlafsTer9) n.411_414del n.428_431del | |
1 | g.17027797del | CA658655541 | SDHB | c.322del (p.Glu108LysfsTer10) c.451del (p.Glu151LysfsTer10) c.493del (p.Glu165LysfsTer10) n.410del n.427del | |
1 | g.17027797C>A | CA338272726 | SDHB | c.321G>T (p.Gln107His) c.450G>T (p.Gln150His) c.492G>T (p.Gln164His) n.409G>T n.426G>T | |
1 | g.17027797C>G | CA338272734 | SDHB | c.321G>C (p.Gln107His) c.450G>C (p.Gln150His) c.492G>C (p.Gln164His) n.409G>C n.426G>C | |
1 | g.17027797C>T | CA416085962 | SDHB | c.321G>A (p.Gln107=) c.450G>A (p.Gln150=) c.492G>A (p.Gln164=) n.409G>A n.426G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027797_17027798delinsCT | CA1156080173 | SDHB | c.320_321delinsAG (p.Gln107=) c.449_450delinsAG (p.Gln150=) c.491_492delinsAG (p.Gln164=) n.408_409delinsAG n.425_426delinsAG | |
1 | g.17027798del | CA658795404 | SDHB | c.320del (p.Gln107ArgfsTer11) c.449del (p.Gln150ArgfsTer11) c.491del (p.Gln164ArgfsTer11) n.408del n.425del | ClinVar dbSNP |
1 | g.17027798T>A | CA338272736 | SDHB | c.320A>T (p.Gln107Leu) c.449A>T (p.Gln150Leu) c.491A>T (p.Gln164Leu) n.408A>T n.425A>T | |
1 | g.17027798T>C | CA089634 | SDHB | c.320A>G (p.Gln107Arg) c.449A>G (p.Gln150Arg) c.491A>G (p.Gln164Arg) n.408A>G n.425A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027798T>G | CA338272743 | SDHB | c.320A>C (p.Gln107Pro) c.449A>C (p.Gln150Pro) c.491A>C (p.Gln164Pro) n.408A>C n.425A>C | |
1 | g.17027798T= | CA1148714518 | SDHB | c.320A= (p.Gln107=) c.449A= (p.Gln150=) c.491A= (p.Gln164=) n.408A= n.425A= | |
1 | g.17027799G>A | CA338272750 | SDHB | c.319C>T (p.Gln107Ter) c.448C>T (p.Gln150Ter) c.490C>T (p.Gln164Ter) n.407C>T n.424C>T | ClinVar dbSNP |
1 | g.17027799G>C | CA338272746 | SDHB | c.319C>G (p.Gln107Glu) c.448C>G (p.Gln150Glu) c.490C>G (p.Gln164Glu) n.407C>G n.424C>G | |
1 | g.17027799G= | CA1156080174 | SDHB | c.319C= (p.Gln107=) c.448C= (p.Gln150=) c.490C= (p.Gln164=) n.407C= n.424C= | |
1 | g.17027799G>T | CA338272748 | SDHB | c.319C>A (p.Gln107Lys) c.448C>A (p.Gln150Lys) c.490C>A (p.Gln164Lys) n.407C>A n.424C>A | |
1 | g.17027800A>C | CA416085976 | SDHB | c.318T>G (p.Ser106=) c.447T>G (p.Ser149=) c.489T>G (p.Ser163=) n.406T>G n.423T>G | |
1 | g.17027800A>G | CA416085979 | SDHB | c.318T>C (p.Ser106=) c.447T>C (p.Ser149=) c.489T>C (p.Ser163=) n.406T>C n.423T>C | |
1 | g.17027800A>T | CA416085981 | SDHB | c.318T>A (p.Ser106=) c.447T>A (p.Ser149=) c.489T>A (p.Ser163=) n.406T>A n.423T>A | |
1 | g.17027801G>A | CA089633 | SDHB | c.317C>T (p.Ser106Phe) c.446C>T (p.Ser149Phe) c.488C>T (p.Ser163Phe) n.405C>T n.422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.17027801G>C | CA338272752 | SDHB | c.317C>G (p.Ser106Cys) c.446C>G (p.Ser149Cys) c.488C>G (p.Ser163Cys) n.405C>G n.422C>G | dbSNP |
1 | g.17027801G= | CA1156080175 | SDHB | c.317C= (p.Ser106=) c.446C= (p.Ser149=) c.488C= (p.Ser163=) n.405C= n.422C= | |
1 | g.17027801G>T | CA338272755 | SDHB | c.317C>A (p.Ser106Tyr) c.446C>A (p.Ser149Tyr) c.488C>A (p.Ser163Tyr) n.405C>A n.422C>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.17027802A= | CA1140495524 | SDHB | c.316T= (p.Ser106=) c.445T= (p.Ser149=) c.487T= (p.Ser163=) n.404T= n.421T= | |
1 | g.17027802A>C | CA338272759 | SDHB | c.316T>G (p.Ser106Ala) c.445T>G (p.Ser149Ala) c.487T>G (p.Ser163Ala) n.404T>G n.421T>G | |
1 | g.17027802A>G | CA015910 | SDHB | c.316T>C (p.Ser106Pro) c.445T>C (p.Ser149Pro) c.487T>C (p.Ser163Pro) n.404T>C n.421T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17027802A>T | CA338272762 | SDHB | c.316T>A (p.Ser106Thr) c.445T>A (p.Ser149Thr) c.487T>A (p.Ser163Thr) n.404T>A n.421T>A | |
1 | g.17027803T>A | CA338272766 | SDHB | c.315A>T (p.Glu105Asp) c.444A>T (p.Glu148Asp) c.486A>T (p.Glu162Asp) n.403A>T n.420A>T | |
1 | g.17027803T>C | CA416085998 | SDHB | c.315A>G (p.Glu105=) c.444A>G (p.Glu148=) c.486A>G (p.Glu162=) n.403A>G n.420A>G | ClinVar dbSNP |
1 | g.17027803T>G | CA338272767 | SDHB | c.315A>C (p.Glu105Asp) c.444A>C (p.Glu148Asp) c.486A>C (p.Glu162Asp) n.403A>C n.420A>C | |
1 | g.17027803T= | CA1156080176 | SDHB | c.315A= (p.Glu105=) c.444A= (p.Glu148=) c.486A= (p.Glu162=) n.403A= n.420A= | |
1 | g.17027804T>A | CA338272770 | SDHB | c.314A>T (p.Glu105Val) c.443A>T (p.Glu148Val) c.485A>T (p.Glu162Val) n.402A>T n.419A>T | ClinVar |
1 | g.17027804T>C | CA338272772 | SDHB | c.314A>G (p.Glu105Gly) c.443A>G (p.Glu148Gly) c.485A>G (p.Glu162Gly) n.402A>G n.419A>G | ClinVar |
1 | g.17027804T>G | CA338272773 | SDHB | c.314A>C (p.Glu105Ala) c.443A>C (p.Glu148Ala) c.485A>C (p.Glu162Ala) n.402A>C n.419A>C | |
1 | g.17027805C>A | CA338272779 | SDHB | c.313G>T (p.Glu105Ter) c.442G>T (p.Glu148Ter) c.484G>T (p.Glu162Ter) n.401G>T n.418G>T | ClinVar dbSNP |
1 | g.17027805C>G | CA338272777 | SDHB | c.313G>C (p.Glu105Gln) c.442G>C (p.Glu148Gln) c.484G>C (p.Glu162Gln) n.401G>C n.418G>C | |
1 | g.17027805C>T | CA338272775 | SDHB | c.313G>A (p.Glu105Lys) c.442G>A (p.Glu148Lys) c.484G>A (p.Glu162Lys) n.401G>A n.418G>A | |
1 | g.17027806A>C | CA338272781 | SDHB | c.312T>G (p.Asp104Glu) c.441T>G (p.Asp147Glu) c.483T>G (p.Asp161Glu) n.400T>G n.417T>G | |
1 | g.17027806A>G | CA416086012 | SDHB | c.312T>C (p.Asp104=) c.441T>C (p.Asp147=) c.483T>C (p.Asp161=) n.400T>C n.417T>C | |
1 | g.17027806A>T | CA338272787 | SDHB | c.312T>A (p.Asp104Glu) c.441T>A (p.Asp147Glu) c.483T>A (p.Asp161Glu) n.400T>A n.417T>A | gnomAD v4 |
1 | g.17027807T>A | CA338272790 | SDHB | c.311A>T (p.Asp104Val) c.440A>T (p.Asp147Val) c.482A>T (p.Asp161Val) n.399A>T n.416A>T | ClinVar dbSNP |
1 | g.17027807T>C | CA18665939 | SDHB | c.311A>G (p.Asp104Gly) c.440A>G (p.Asp147Gly) c.482A>G (p.Asp161Gly) n.399A>G n.416A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17027807T>G | CA338272795 | SDHB | c.311A>C (p.Asp104Ala) c.440A>C (p.Asp147Ala) c.482A>C (p.Asp161Ala) n.399A>C n.416A>C | |
1 | g.17027807T= | CA1156080178 | SDHB | c.311A= (p.Asp104=) c.440A= (p.Asp147=) c.482A= (p.Asp161=) n.399A= n.416A= | |
1 | g.17027807_17027808delinsTC | CA1156080177 | SDHB | c.310_311delinsGA (p.Asp104=) c.439_440delinsGA (p.Asp147=) c.481_482delinsGA (p.Asp161=) n.398_399delinsGA n.415_416delinsGA | |
1 | g.17027809_17027812del | CA2499214300 | SDHB | c.308_311del (p.Lys103MetfsTer14) c.437_440del (p.Lys146MetfsTer14) c.479_482del (p.Lys160MetfsTer14) n.396_399del n.413_416del | ClinVar dbSNP |
1 | g.17027809_17027829del | CA658655540 | SDHB | c.291_311del (p.Glu97_Lys103del) c.420_440del (p.Glu140_Lys146del) c.462_482del (p.Glu154_Lys160del) n.379_399del n.396_416del | |
1 | g.17027808C>A | CA338272803 | SDHB | c.310G>T (p.Asp104Tyr) c.439G>T (p.Asp147Tyr) c.481G>T (p.Asp161Tyr) n.398G>T n.415G>T | dbSNP |
1 | g.17027808C= | CA1156080180 | SDHB | c.310G= (p.Asp104=) c.439G= (p.Asp147=) c.481G= (p.Asp161=) n.398G= n.415G= | |
1 | g.17027808C>G | CA338272806 | SDHB | c.310G>C (p.Asp104His) c.439G>C (p.Asp147His) c.481G>C (p.Asp161His) n.398G>C n.415G>C |