| 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.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.17027825G>A | CA338272998 | SDHB | c.293C>T (p.Pro98Leu) c.422C>T (p.Pro141Leu) c.464C>T (p.Pro155Leu) n.381C>T n.398C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17027825G>C | CA338273002 | SDHB | c.293C>G (p.Pro98Arg) c.422C>G (p.Pro141Arg) c.464C>G (p.Pro155Arg) n.381C>G n.398C>G | ClinVar |
| 1 | g.17027825G= | CA1156080187 | SDHB | c.293C= (p.Pro98=) c.422C= (p.Pro141=) c.464C= (p.Pro155=) n.381C= n.398C= | |
| 1 | g.17027825G>T | CA338273013 | SDHB | c.293C>A (p.Pro98His) c.422C>A (p.Pro141His) c.464C>A (p.Pro155His) n.381C>A n.398C>A | |
| 1 | g.17027826G>A | CA089630 | SDHB | c.292C>T (p.Pro98Ser) c.421C>T (p.Pro141Ser) c.463C>T (p.Pro155Ser) n.380C>T n.397C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17027826G>C | CA338273026 | SDHB | c.292C>G (p.Pro98Ala) c.421C>G (p.Pro141Ala) c.463C>G (p.Pro155Ala) n.380C>G n.397C>G | |
| 1 | g.17027826G= | CA1156080188 | SDHB | c.292C= (p.Pro98=) c.421C= (p.Pro141=) c.463C= (p.Pro155=) n.380C= n.397C= | |
| 1 | g.17027826G>T | CA338273035 | SDHB | c.292C>A (p.Pro98Thr) c.421C>A (p.Pro141Thr) c.463C>A (p.Pro155Thr) n.380C>A n.397C>A | |
| 1 | g.17027827C>A | CA338273039 | SDHB | c.291G>T (p.Glu97Asp) c.420G>T (p.Glu140Asp) c.462G>T (p.Glu154Asp) n.379G>T n.396G>T | dbSNP |
| 1 | g.17027827C= | CA1156080189 | SDHB | c.291G= (p.Glu97=) c.420G= (p.Glu140=) c.462G= (p.Glu154=) n.379G= n.396G= | |
| 1 | g.17027827C>G | CA338273042 | SDHB | c.291G>C (p.Glu97Asp) c.420G>C (p.Glu140Asp) c.462G>C (p.Glu154Asp) n.379G>C n.396G>C | |
| 1 | g.17027827C>T | CA416086167 | SDHB | c.291G>A (p.Glu97=) c.420G>A (p.Glu140=) c.462G>A (p.Glu154=) n.379G>A n.396G>A | |
| 1 | g.17027828T>A | CA338273045 | SDHB | c.290A>T (p.Glu97Val) c.419A>T (p.Glu140Val) c.461A>T (p.Glu154Val) n.378A>T n.395A>T | |
| 1 | g.17027828T>C | CA18665969 | SDHB | c.290A>G (p.Glu97Gly) c.419A>G (p.Glu140Gly) c.461A>G (p.Glu154Gly) n.378A>G n.395A>G | dbSNP |
| 1 | g.17027828T>G | CA338273064 | SDHB | c.290A>C (p.Glu97Ala) c.419A>C (p.Glu140Ala) c.461A>C (p.Glu154Ala) n.378A>C n.395A>C | |
| 1 | g.17027828T= | CA1145610940 | SDHB | c.290A= (p.Glu97=) c.419A= (p.Glu140=) c.461A= (p.Glu154=) n.378A= n.395A= | |
| 1 | g.17027829C>A | CA338273088 | SDHB | c.289G>T (p.Glu97Ter) c.418G>T (p.Glu140Ter) c.460G>T (p.Glu154Ter) n.377G>T n.394G>T | |
| 1 | g.17027829C>G | CA338273086 | SDHB | c.289G>C (p.Glu97Gln) c.418G>C (p.Glu140Gln) c.460G>C (p.Glu154Gln) n.377G>C n.394G>C | |
| 1 | g.17027829C>T | CA338273078 | SDHB | c.289G>A (p.Glu97Lys) c.418G>A (p.Glu140Lys) c.460G>A (p.Glu154Lys) n.377G>A n.394G>A | |
| 1 | g.17027830A>C | CA338273091 | SDHB | c.288T>G (p.Ile96Met) c.417T>G (p.Ile139Met) c.459T>G (p.Ile153Met) n.376T>G n.393T>G | |
| 1 | g.17027830A>G | CA416086179 | SDHB | c.288T>C (p.Ile96=) c.417T>C (p.Ile139=) c.459T>C (p.Ile153=) n.376T>C n.393T>C | ClinVar gnomAD v4 |
| 1 | g.17027830A>T | CA416086181 | SDHB | c.288T>A (p.Ile96=) c.417T>A (p.Ile139=) c.459T>A (p.Ile153=) n.376T>A n.393T>A | |
| 1 | g.17027831A= | CA1156080190 | SDHB | c.287T= (p.Ile96=) c.416T= (p.Ile139=) c.458T= (p.Ile153=) n.375T= n.392T= | |
| 1 | g.17027831A>C | CA338273104 | SDHB | c.287T>G (p.Ile96Ser) c.416T>G (p.Ile139Ser) c.458T>G (p.Ile153Ser) n.375T>G n.392T>G | |
| 1 | g.17027831A>G | CA338273094 | SDHB | c.287T>C (p.Ile96Thr) c.416T>C (p.Ile139Thr) c.458T>C (p.Ile153Thr) n.375T>C n.392T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17027831A>T | CA338273097 | SDHB | c.287T>A (p.Ile96Asn) c.416T>A (p.Ile139Asn) c.458T>A (p.Ile153Asn) n.375T>A n.392T>A | |
| 1 | g.17027832T>A | CA338273110 | SDHB | c.286A>T (p.Ile96Phe) c.415A>T (p.Ile139Phe) c.457A>T (p.Ile153Phe) n.374A>T n.391A>T | ClinVar dbSNP |
| 1 | g.17027832T>C | CA338273114 | SDHB | c.286A>G (p.Ile96Val) c.415A>G (p.Ile139Val) c.457A>G (p.Ile153Val) n.374A>G n.391A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17027832T>G | CA338273130 | SDHB | c.286A>C (p.Ile96Leu) c.415A>C (p.Ile139Leu) c.457A>C (p.Ile153Leu) n.374A>C n.391A>C | gnomAD v4 |
| 1 | g.17027832T= | CA1156080191 | SDHB | c.286A= (p.Ile96=) c.415A= (p.Ile139=) c.457A= (p.Ile153=) n.374A= n.391A= | |
| 1 | g.17027833G>A | CA416086199 | SDHB | c.285C>T (p.Ser95=) c.414C>T (p.Ser138=) c.456C>T (p.Ser152=) n.373C>T n.390C>T | dbSNP |
| 1 | g.17027833G>C | CA416086202 | SDHB | c.285C>G (p.Ser95=) c.414C>G (p.Ser138=) c.456C>G (p.Ser152=) n.373C>G n.390C>G | |
| 1 | g.17027833G= | CA1156080192 | SDHB | c.285C= (p.Ser95=) c.414C= (p.Ser138=) c.456C= (p.Ser152=) n.373C= n.390C= | |
| 1 | g.17027833G>T | CA416086203 | SDHB | c.285C>A (p.Ser95=) c.414C>A (p.Ser138=) c.456C>A (p.Ser152=) n.373C>A n.390C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17027834G>A | CA089629 | SDHB | c.284C>T (p.Ser95Phe) c.413C>T (p.Ser138Phe) c.455C>T (p.Ser152Phe) n.372C>T n.389C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17027834G>C | CA338273136 | SDHB | c.284C>G (p.Ser95Cys) c.413C>G (p.Ser138Cys) c.455C>G (p.Ser152Cys) n.372C>G n.389C>G | |
| 1 | g.17027834G= | CA1143415682 | SDHB | c.284C= (p.Ser95=) c.413C= (p.Ser138=) c.455C= (p.Ser152=) n.372C= n.389C= | |
| 1 | g.17027834G>T | CA338273140 | SDHB | c.284C>A (p.Ser95Tyr) c.413C>A (p.Ser138Tyr) c.455C>A (p.Ser152Tyr) n.372C>A n.389C>A | ClinVar dbSNP |
| 1 | g.17027835A= | CA1156080193 | SDHB | c.283T= (p.Ser95=) c.412T= (p.Ser138=) c.454T= (p.Ser152=) n.371T= n.388T= | |
| 1 | g.17027835A>C | CA338273142 | SDHB | c.283T>G (p.Ser95Ala) c.412T>G (p.Ser138Ala) c.454T>G (p.Ser152Ala) n.371T>G n.388T>G | |
| 1 | g.17027835A>G | CA10608342 | SDHB | c.283T>C (p.Ser95Pro) c.412T>C (p.Ser138Pro) c.454T>C (p.Ser152Pro) n.371T>C n.388T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.17027835A>T | CA338273143 | SDHB | c.283T>A (p.Ser95Thr) c.412T>A (p.Ser138Thr) c.454T>A (p.Ser152Thr) n.371T>A n.388T>A | |
| 1 | g.17027836T>A | CA338273144 | SDHB | c.282A>T (p.Lys94Asn) c.411A>T (p.Lys137Asn) c.453A>T (p.Lys151Asn) n.370A>T n.387A>T | |
| 1 | g.17027836T>C | CA416086220 | SDHB | c.282A>G (p.Lys94=) c.411A>G (p.Lys137=) c.453A>G (p.Lys151=) n.370A>G n.387A>G | ClinVar dbSNP |
| 1 | g.17027836T>G | CA338273145 | SDHB | c.282A>C (p.Lys94Asn) c.411A>C (p.Lys137Asn) c.453A>C (p.Lys151Asn) n.370A>C n.387A>C | |
| 1 | g.17027836T= | CA1156080194 | SDHB | c.282A= (p.Lys94=) c.411A= (p.Lys137=) c.453A= (p.Lys151=) n.370A= n.387A= | |
| 1 | g.17027838del | CA2586964061 | SDHB | c.282del (p.Lys94AsnfsTer7) c.411del (p.Lys137AsnfsTer7) c.453del (p.Lys151AsnfsTer7) n.370del n.387del | |
| 1 | g.17027836_17027840del | CA2586964060 | SDHB | c.278_282del (p.Tyr93PhefsTer3) c.407_411del (p.Tyr136PhefsTer3) c.449_453del (p.Tyr150PhefsTer3) n.366_370del n.383_387del |