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.17028690_17028700del | CA658655532 | SDHB | c.154_164del (p.Asn52LeufsTer6) c.283_293del (p.Asn95LeufsTer6) c.325_335del (p.Asn109LeufsTer6) n.242_252del n.313_323del | ClinVar dbSNP |
1 | g.17028690_17028693dup | CA308155 | SDHB | c.159_162dup (p.Ala55SerfsTer8) c.288_291dup (p.Ala98SerfsTer8) c.330_333dup (p.Ala112SerfsTer8) n.247_250dup n.318_321dup | ClinVar dbSNP |
1 | g.17028693_17028694del | CA16609938 | SDHB | c.160_161del (p.Leu54SerfsTer7) c.289_290del (p.Leu97SerfsTer7) c.331_332del (p.Leu111SerfsTer7) n.248_249del n.319_320del | ClinVar dbSNP |
1 | g.17028693A>C | CA416087952 | SDHB | c.159T>G (p.Thr53=) c.288T>G (p.Thr96=) c.330T>G (p.Thr110=) n.247T>G n.318T>G | |
1 | g.17028693A>G | CA416087954 | SDHB | c.159T>C (p.Thr53=) c.288T>C (p.Thr96=) c.330T>C (p.Thr110=) n.247T>C n.318T>C | ClinVar dbSNP |
1 | g.17028693A>T | CA416087958 | SDHB | c.159T>A (p.Thr53=) c.288T>A (p.Thr96=) c.330T>A (p.Thr110=) n.247T>A n.318T>A | |
1 | g.17028694G>A | CA338274850 | SDHB | c.158C>T (p.Thr53Ile) c.287C>T (p.Thr96Ile) c.329C>T (p.Thr110Ile) n.246C>T n.317C>T | ClinVar gnomAD v4 |
1 | g.17028694G>C | CA338274853 | SDHB | c.158C>G (p.Thr53Ser) c.287C>G (p.Thr96Ser) c.329C>G (p.Thr110Ser) n.246C>G n.317C>G | |
1 | g.17028694G>T | CA338274856 | SDHB | c.158C>A (p.Thr53Asn) c.287C>A (p.Thr96Asn) c.329C>A (p.Thr110Asn) n.246C>A n.317C>A | |
1 | g.17028695T>A | CA338274868 | SDHB | c.157A>T (p.Thr53Ser) c.286A>T (p.Thr96Ser) c.328A>T (p.Thr110Ser) n.245A>T n.316A>T | ClinVar dbSNP gnomAD v2 |
1 | g.17028695T>C | CA338274859 | SDHB | c.157A>G (p.Thr53Ala) c.286A>G (p.Thr96Ala) c.328A>G (p.Thr110Ala) n.245A>G n.316A>G | COSMIC |
1 | g.17028695T>G | CA338274862 | SDHB | c.157A>C (p.Thr53Pro) c.286A>C (p.Thr96Pro) c.328A>C (p.Thr110Pro) n.245A>C n.316A>C | |
1 | g.17028695T= | CA1156080519 | SDHB | c.157A= (p.Thr53=) c.286A= (p.Thr96=) c.328A= (p.Thr110=) n.245A= n.316A= | |
1 | g.17028696G>A | CA416087970 | SDHB | c.156C>T (p.Asn52=) c.285C>T (p.Asn95=) c.327C>T (p.Asn109=) n.244C>T n.315C>T | ClinVar dbSNP |
1 | g.17028696G>C | CA338274872 | SDHB | c.156C>G (p.Asn52Lys) c.285C>G (p.Asn95Lys) c.327C>G (p.Asn109Lys) n.244C>G n.315C>G | |
1 | g.17028696G= | CA1156080520 | SDHB | c.156C= (p.Asn52=) c.285C= (p.Asn95=) c.327C= (p.Asn109=) n.244C= n.315C= | |
1 | g.17028696G>T | CA338274885 | SDHB | c.156C>A (p.Asn52Lys) c.285C>A (p.Asn95Lys) c.327C>A (p.Asn109Lys) n.244C>A n.315C>A | |
1 | g.17028697T>A | CA338274889 | SDHB | c.155A>T (p.Asn52Ile) c.284A>T (p.Asn95Ile) c.326A>T (p.Asn109Ile) n.243A>T n.314A>T | |
1 | g.17028697T>C | CA338274896 | SDHB | c.155A>G (p.Asn52Ser) c.284A>G (p.Asn95Ser) c.326A>G (p.Asn109Ser) n.243A>G n.314A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028697T>G | CA338274897 | SDHB | c.155A>C (p.Asn52Thr) c.284A>C (p.Asn95Thr) c.326A>C (p.Asn109Thr) n.243A>C n.314A>C | |
1 | g.17028697T= | CA1156080521 | SDHB | c.155A= (p.Asn52=) c.284A= (p.Asn95=) c.326A= (p.Asn109=) n.243A= n.314A= | |
1 | g.17028698T>A | CA338274900 | SDHB | c.154A>T (p.Asn52Tyr) c.283A>T (p.Asn95Tyr) c.325A>T (p.Asn109Tyr) n.242A>T n.313A>T | |
1 | g.17028698T>C | CA338274899 | SDHB | c.154A>G (p.Asn52Asp) c.283A>G (p.Asn95Asp) c.325A>G (p.Asn109Asp) n.242A>G n.313A>G | |
1 | g.17028698T>G | CA338274898 | SDHB | c.154A>C (p.Asn52His) c.283A>C (p.Asn95His) c.325A>C (p.Asn109His) n.242A>C n.313A>C | dbSNP gnomAD v2 |
1 | g.17028698T= | CA1156080522 | SDHB | c.154A= (p.Asn52=) c.283A= (p.Asn95=) c.325A= (p.Asn109=) n.242A= n.313A= | |
1 | g.17028699G>A | CA416087982 | SDHB | c.153C>T (p.Gly51=) c.282C>T (p.Gly94=) c.324C>T (p.Gly108=) n.241C>T n.312C>T | dbSNP |
1 | g.17028699G>C | CA416087985 | SDHB | c.153C>G (p.Gly51=) c.282C>G (p.Gly94=) c.324C>G (p.Gly108=) n.241C>G n.312C>G | dbSNP |
1 | g.17028699G>T | CA416087987 | SDHB | c.153C>A (p.Gly51=) c.282C>A (p.Gly94=) c.324C>A (p.Gly108=) n.241C>A n.312C>A | dbSNP |
1 | g.17028700C>A | CA338274903 | SDHB | c.152G>T (p.Gly51Val) c.281G>T (p.Gly94Val) c.323G>T (p.Gly108Val) n.240G>T n.311G>T | |
1 | g.17028700C= | CA1156080523 | SDHB | c.152G= (p.Gly51=) c.281G= (p.Gly94=) c.323G= (p.Gly108=) n.240G= n.311G= | |
1 | g.17028700C>G | CA338274918 | SDHB | c.152G>C (p.Gly51Ala) c.281G>C (p.Gly94Ala) c.323G>C (p.Gly108Ala) n.240G>C n.311G>C | |
1 | g.17028700C>T | CA089588 | SDHB | c.152G>A (p.Gly51Asp) c.281G>A (p.Gly94Asp) c.323G>A (p.Gly108Asp) n.240G>A n.311G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028701C>A | CA338274921 | SDHB | c.151G>T (p.Gly51Cys) c.280G>T (p.Gly94Cys) c.322G>T (p.Gly108Cys) n.239G>T n.310G>T | |
1 | g.17028701C>G | CA338274922 | SDHB | c.151G>C (p.Gly51Arg) c.280G>C (p.Gly94Arg) c.322G>C (p.Gly108Arg) n.239G>C n.310G>C | |
1 | g.17028701C>T | CA338274923 | SDHB | c.151G>A (p.Gly51Ser) c.280G>A (p.Gly94Ser) c.322G>A (p.Gly108Ser) n.239G>A n.310G>A | |
1 | g.17028702T>A | CA416087998 | SDHB | c.150A>T (p.Gly50=) c.279A>T (p.Gly93=) c.321A>T (p.Gly107=) n.238A>T n.309A>T | dbSNP |
1 | g.17028702T>C | CA416088002 | SDHB | c.150A>G (p.Gly50=) c.279A>G (p.Gly93=) c.321A>G (p.Gly107=) n.238A>G n.309A>G | dbSNP |
1 | g.17028702T>G | CA416088000 | SDHB | c.150A>C (p.Gly50=) c.279A>C (p.Gly93=) c.321A>C (p.Gly107=) n.238A>C n.309A>C | |
1 | g.17028703C>A | CA338274924 | SDHB | c.149G>T (p.Gly50Val) c.278G>T (p.Gly93Val) c.320G>T (p.Gly107Val) n.237G>T n.308G>T | |
1 | g.17028703C>G | CA338274925 | SDHB | c.149G>C (p.Gly50Ala) c.278G>C (p.Gly93Ala) c.320G>C (p.Gly107Ala) n.237G>C n.308G>C | |
1 | g.17028703C>T | CA338274926 | SDHB | c.149G>A (p.Gly50Glu) c.278G>A (p.Gly93Glu) c.320G>A (p.Gly107Glu) n.237G>A n.308G>A | ClinVar |
1 | g.17028704C>A | CA338274927 | SDHB | c.148G>T (p.Gly50Ter) c.277G>T (p.Gly93Ter) c.319G>T (p.Gly107Ter) n.236G>T n.307G>T | dbSNP |
1 | g.17028704C= | CA1156080524 | SDHB | c.148G= (p.Gly50=) c.277G= (p.Gly93=) c.319G= (p.Gly107=) n.236G= n.307G= | |
1 | g.17028704C>G | CA338274929 | SDHB | c.148G>C (p.Gly50Arg) c.277G>C (p.Gly93Arg) c.319G>C (p.Gly107Arg) n.236G>C n.307G>C | |
1 | g.17028704C>T | CA089586 | SDHB | c.148G>A (p.Gly50Arg) c.277G>A (p.Gly93Arg) c.319G>A (p.Gly107Arg) n.236G>A n.307G>A | dbSNP ExAC gnomAD v2 |
1 | g.17028705A>C | CA338274936 | SDHB | c.147T>G (p.Asn49Lys) c.276T>G (p.Asn92Lys) c.318T>G (p.Asn106Lys) n.235T>G n.306T>G | |
1 | g.17028705A>G | CA416088015 | SDHB | c.147T>C (p.Asn49=) c.276T>C (p.Asn92=) c.318T>C (p.Asn106=) n.235T>C n.306T>C | ClinVar dbSNP |
1 | g.17028705A>T | CA338274941 | SDHB | c.147T>A (p.Asn49Lys) c.276T>A (p.Asn92Lys) c.318T>A (p.Asn106Lys) n.235T>A n.306T>A | |
1 | g.17028706T>A | CA338274955 | SDHB | c.146A>T (p.Asn49Ile) c.275A>T (p.Asn92Ile) c.317A>T (p.Asn106Ile) n.234A>T n.305A>T |