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.17027787G>A | CA338272662 | SDHB | c.331C>T (p.Gln111Ter) c.460C>T (p.Gln154Ter) c.502C>T (p.Gln168Ter) n.419C>T n.436C>T | ClinVar dbSNP |
1 | g.17027787G>C | CA338272676 | SDHB | c.331C>G (p.Gln111Glu) c.460C>G (p.Gln154Glu) c.502C>G (p.Gln168Glu) n.419C>G n.436C>G | |
1 | g.17027787G= | CA1156080169 | SDHB | c.331C= (p.Gln111=) c.460C= (p.Gln154=) c.502C= (p.Gln168=) n.419C= n.436C= | |
1 | g.17027787G>T | CA338272678 | SDHB | c.331C>A (p.Gln111Lys) c.460C>A (p.Gln154Lys) c.502C>A (p.Gln168Lys) n.419C>A n.436C>A | gnomAD v4 |
1 | g.17027787dup | CA658655542 | SDHB | c.331dup (p.Gln111ProfsTer11) c.460dup (p.Gln154ProfsTer11) c.502dup (p.Gln168ProfsTer11) n.419dup n.436dup | |
1 | g.17027788C>A | CA338272680 | SDHB | c.330G>T (p.Lys110Asn) c.459G>T (p.Lys153Asn) c.501G>T (p.Lys167Asn) n.418G>T n.435G>T | ClinVar dbSNP gnomAD v4 |
1 | g.17027788C= | CA1156080170 | SDHB | c.330G= (p.Lys110=) c.459G= (p.Lys153=) c.501G= (p.Lys167=) n.418G= n.435G= | |
1 | g.17027788C>G | CA338272684 | SDHB | c.330G>C (p.Lys110Asn) c.459G>C (p.Lys153Asn) c.501G>C (p.Lys167Asn) n.418G>C n.435G>C | |
1 | g.17027788C>T | CA416085892 | SDHB | c.330G>A (p.Lys110=) c.459G>A (p.Lys153=) c.501G>A (p.Lys167=) n.418G>A n.435G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027788_17027789delinsAG | CA1139655468 | SDHB | c.329_330delinsCT (p.Lys110Thr) c.458_459delinsCT (p.Lys153Thr) c.500_501delinsCT (p.Lys167Thr) n.417_418delinsCT n.434_435delinsCT | ClinVar |
1 | g.17027789T>A | CA338272687 | SDHB | c.329A>T (p.Lys110Met) c.458A>T (p.Lys153Met) c.500A>T (p.Lys167Met) n.417A>T n.434A>T | |
1 | g.17027789T>C | CA338272692 | SDHB | c.329A>G (p.Lys110Arg) c.458A>G (p.Lys153Arg) c.500A>G (p.Lys167Arg) n.417A>G n.434A>G | |
1 | g.17027789T>G | CA338272693 | SDHB | c.329A>C (p.Lys110Thr) c.458A>C (p.Lys153Thr) c.500A>C (p.Lys167Thr) n.417A>C n.434A>C | gnomAD v4 |
1 | g.17027790T>A | CA16609934 | SDHB | c.328A>T (p.Lys110Ter) c.457A>T (p.Lys153Ter) c.499A>T (p.Lys167Ter) n.416A>T n.433A>T | ClinVar dbSNP |
1 | g.17027790T>C | CA338272695 | SDHB | c.328A>G (p.Lys110Glu) c.457A>G (p.Lys153Glu) c.499A>G (p.Lys167Glu) n.416A>G n.433A>G | |
1 | g.17027790T>G | CA338272696 | SDHB | c.328A>C (p.Lys110Gln) c.457A>C (p.Lys153Gln) c.499A>C (p.Lys167Gln) n.416A>C n.433A>C | |
1 | g.17027790T= | CA1156080171 | SDHB | c.328A= (p.Lys110=) c.457A= (p.Lys153=) c.499A= (p.Lys167=) n.416A= n.433A= | |
1 | g.17027791G>A | CA416085918 | SDHB | c.327C>T (p.Gly109=) c.456C>T (p.Gly152=) c.498C>T (p.Gly166=) n.415C>T n.432C>T | |
1 | g.17027791G>C | CA416085915 | SDHB | c.327C>G (p.Gly109=) c.456C>G (p.Gly152=) c.498C>G (p.Gly166=) n.415C>G n.432C>G | |
1 | g.17027791G>T | CA416085919 | SDHB | c.327C>A (p.Gly109=) c.456C>A (p.Gly152=) c.498C>A (p.Gly166=) n.415C>A n.432C>A | |
1 | g.17027792C>A | CA338272697 | SDHB | c.326G>T (p.Gly109Val) c.455G>T (p.Gly152Val) c.497G>T (p.Gly166Val) n.414G>T n.431G>T | |
1 | g.17027792C= | CA1156080172 | SDHB | c.326G= (p.Gly109=) c.455G= (p.Gly152=) c.497G= (p.Gly166=) n.414G= n.431G= | |
1 | g.17027792C>G | CA338272698 | SDHB | c.326G>C (p.Gly109Ala) c.455G>C (p.Gly152Ala) c.497G>C (p.Gly166Ala) n.414G>C n.431G>C | |
1 | g.17027792C>T | CA16609936 | SDHB | c.326G>A (p.Gly109Asp) c.455G>A (p.Gly152Asp) c.497G>A (p.Gly166Asp) n.414G>A n.431G>A | ClinVar dbSNP gnomAD v4 |
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.17027793C>A | CA338272705 | SDHB | c.325G>T (p.Gly109Cys) c.454G>T (p.Gly152Cys) c.496G>T (p.Gly166Cys) n.413G>T n.430G>T | |
1 | g.17027793C>G | CA338272706 | SDHB | c.325G>C (p.Gly109Arg) c.454G>C (p.Gly152Arg) c.496G>C (p.Gly166Arg) n.413G>C n.430G>C | |
1 | g.17027793C>T | CA338272701 | SDHB | c.325G>A (p.Gly109Ser) c.454G>A (p.Gly152Ser) c.496G>A (p.Gly166Ser) n.413G>A n.430G>A | gnomAD v4 |
1 | g.17027794T>A | CA338272708 | SDHB | c.324A>T (p.Glu108Asp) c.453A>T (p.Glu151Asp) c.495A>T (p.Glu165Asp) n.412A>T n.429A>T | |
1 | g.17027794T>C | CA416085942 | SDHB | c.324A>G (p.Glu108=) c.453A>G (p.Glu151=) c.495A>G (p.Glu165=) n.412A>G n.429A>G | gnomAD v4 |
1 | g.17027794T>G | CA338272710 | SDHB | c.324A>C (p.Glu108Asp) c.453A>C (p.Glu151Asp) c.495A>C (p.Glu165Asp) n.412A>C n.429A>C | |
1 | g.17027795T>A | CA338272712 | SDHB | c.323A>T (p.Glu108Val) c.452A>T (p.Glu151Val) c.494A>T (p.Glu165Val) n.411A>T n.428A>T | |
1 | g.17027795T>C | CA338272716 | SDHB | c.323A>G (p.Glu108Gly) c.452A>G (p.Glu151Gly) c.494A>G (p.Glu165Gly) n.411A>G n.428A>G | |
1 | g.17027795T>G | CA338272718 | SDHB | c.323A>C (p.Glu108Ala) c.452A>C (p.Glu151Ala) c.494A>C (p.Glu165Ala) n.411A>C n.428A>C | |
1 | g.17027796C>A | CA338272720 | SDHB | c.322G>T (p.Glu108Ter) c.451G>T (p.Glu151Ter) c.493G>T (p.Glu165Ter) n.410G>T n.427G>T | |
1 | g.17027796C>G | CA338272721 | SDHB | c.322G>C (p.Glu108Gln) c.451G>C (p.Glu151Gln) c.493G>C (p.Glu165Gln) n.410G>C n.427G>C | |
1 | g.17027796C>T | CA338272724 | SDHB | c.322G>A (p.Glu108Lys) c.451G>A (p.Glu151Lys) c.493G>A (p.Glu165Lys) n.410G>A n.427G>A | ClinVar dbSNP |
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 |