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 | |
1 | g.17028640T>A | CA338274314 | SDHB | c.212A>T (p.Tyr71Phe) c.341A>T (p.Tyr114Phe) c.383A>T (p.Tyr128Phe) n.300A>T n.357+14A>T | ClinVar gnomAD v4 |
1 | g.17028640T>C | CA089601 | SDHB | c.212A>G (p.Tyr71Cys) c.341A>G (p.Tyr114Cys) c.383A>G (p.Tyr128Cys) n.300A>G n.357+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028640T>G | CA338274317 | SDHB | c.212A>C (p.Tyr71Ser) c.341A>C (p.Tyr114Ser) c.383A>C (p.Tyr128Ser) n.300A>C n.357+14A>C | ClinVar |
1 | g.17028640T= | CA1156080491 | SDHB | c.212A= (p.Tyr71=) c.341A= (p.Tyr114=) c.383A= (p.Tyr128=) n.300A= n.357+14A= | |
1 | g.17028641A>C | CA338274328 | SDHB | c.211T>G (p.Tyr71Asp) c.340T>G (p.Tyr114Asp) c.382T>G (p.Tyr128Asp) n.299T>G n.357+13T>G | |
1 | g.17028641A>G | CA338274321 | SDHB | c.211T>C (p.Tyr71His) c.340T>C (p.Tyr114His) c.382T>C (p.Tyr128His) n.299T>C n.357+13T>C | |
1 | g.17028641A>T | CA338274327 | SDHB | c.211T>A (p.Tyr71Asn) c.340T>A (p.Tyr114Asn) c.382T>A (p.Tyr128Asn) n.299T>A n.357+13T>A | |
1 | g.17028642G>A | CA416087646 | SDHB | c.210C>T (p.Ile70=) c.339C>T (p.Ile113=) c.381C>T (p.Ile127=) n.298C>T n.357+12C>T | gnomAD v4 |
1 | g.17028642G>C | CA338274330 | SDHB | c.210C>G (p.Ile70Met) c.339C>G (p.Ile113Met) c.381C>G (p.Ile127Met) n.298C>G n.357+12C>G | |
1 | g.17028642G>T | CA416087649 | SDHB | c.210C>A (p.Ile70=) c.339C>A (p.Ile113=) c.381C>A (p.Ile127=) n.298C>A n.357+12C>A | |
1 | g.17028643A= | CA1156080492 | SDHB | c.209T= (p.Ile70=) c.338T= (p.Ile113=) c.380T= (p.Ile127=) n.297T= n.357+11T= | |
1 | g.17028643A>C | CA015797 | SDHB | c.209T>G (p.Ile70Ser) c.338T>G (p.Ile113Ser) c.380T>G (p.Ile127Ser) n.297T>G n.357+11T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028643A>G | CA338274344 | SDHB | c.209T>C (p.Ile70Thr) c.338T>C (p.Ile113Thr) c.380T>C (p.Ile127Thr) n.297T>C n.357+11T>C | |
1 | g.17028643A>T | CA338274352 | SDHB | c.209T>A (p.Ile70Asn) c.338T>A (p.Ile113Asn) c.380T>A (p.Ile127Asn) n.297T>A n.357+11T>A | |
1 | g.17028644T>A | CA338274354 | SDHB | c.208A>T (p.Ile70Phe) c.337A>T (p.Ile113Phe) c.379A>T (p.Ile127Phe) n.296A>T n.357+10A>T | |
1 | g.17028644T>C | CA338274355 | SDHB | c.208A>G (p.Ile70Val) c.337A>G (p.Ile113Val) c.379A>G (p.Ile127Val) n.296A>G n.357+10A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028644T>G | CA16609924 | SDHB | c.208A>C (p.Ile70Leu) c.337A>C (p.Ile113Leu) c.379A>C (p.Ile127Leu) n.296A>C n.357+10A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028644T= | CA1143478094 | SDHB | c.208A= (p.Ile70=) c.337A= (p.Ile113=) c.379A= (p.Ile127=) n.296A= n.357+10A= | |
1 | g.17028648dup | CA658655535 | SDHB | c.208dup (p.Ile70AsnfsTer28) c.337dup (p.Ile113AsnfsTer28) c.379dup (p.Ile127AsnfsTer28) n.296dup n.357+10dup | ClinVar dbSNP |
1 | g.17028645T>A | CA338274369 | SDHB | c.207A>T (p.Lys69Asn) c.336A>T (p.Lys112Asn) c.378A>T (p.Lys126Asn) n.295A>T n.357+9A>T | |
1 | g.17028645T>C | CA416087659 | SDHB | c.207A>G (p.Lys69=) c.336A>G (p.Lys112=) c.378A>G (p.Lys126=) n.295A>G n.357+9A>G | |
1 | g.17028645T>G | CA338274360 | SDHB | c.207A>C (p.Lys69Asn) c.336A>C (p.Lys112Asn) c.378A>C (p.Lys126Asn) n.295A>C n.357+9A>C | |
1 | g.17028646T>A | CA338274372 | SDHB | c.206A>T (p.Lys69Ile) c.335A>T (p.Lys112Ile) c.377A>T (p.Lys126Ile) n.294A>T n.357+8A>T | |
1 | g.17028646T>C | CA338274377 | SDHB | c.206A>G (p.Lys69Arg) c.335A>G (p.Lys112Arg) c.377A>G (p.Lys126Arg) n.294A>G n.357+8A>G | |
1 | g.17028646T>G | CA338274386 | SDHB | c.206A>C (p.Lys69Thr) c.335A>C (p.Lys112Thr) c.377A>C (p.Lys126Thr) n.294A>C n.357+8A>C | |
1 | g.17028647T>A | CA338274390 | SDHB | c.205A>T (p.Lys69Ter) c.334A>T (p.Lys112Ter) c.376A>T (p.Lys126Ter) n.293A>T n.357+7A>T | |
1 | g.17028647T>C | CA18666643 | SDHB | c.205A>G (p.Lys69Glu) c.334A>G (p.Lys112Glu) c.376A>G (p.Lys126Glu) n.293A>G n.357+7A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028647T>G | CA338274397 | SDHB | c.205A>C (p.Lys69Gln) c.334A>C (p.Lys112Gln) c.376A>C (p.Lys126Gln) n.293A>C n.357+7A>C | |
1 | g.17028647T= | CA1143525359 | SDHB | c.205A= (p.Lys69=) c.334A= (p.Lys112=) c.376A= (p.Lys126=) n.293A= n.357+7A= | |
1 | g.17028647_17028648delinsAC | CA2838032013 | SDHB | c.204_205delinsGT (p.Ser69Ter) c.333_334delinsGT (p.Ser112Ter) c.375_376delinsGT (p.Ser126Ter) n.292_293delinsGT n.357+6_357+7delinsGT | |
1 | g.17028648T>A | CA416087675 | SDHB | c.204A>T (p.Ser68=) c.333A>T (p.Ser111=) c.375A>T (p.Ser125=) n.292A>T n.357+6A>T | |
1 | g.17028648T>C | CA416087677 | SDHB | c.204A>G (p.Ser68=) c.333A>G (p.Ser111=) c.375A>G (p.Ser125=) n.292A>G n.357+6A>G | ClinVar dbSNP |
1 | g.17028648T>G | CA416087679 | SDHB | c.204A>C (p.Ser68=) c.333A>C (p.Ser111=) c.375A>C (p.Ser125=) n.292A>C n.357+6A>C | |
1 | g.17028649G>A | CA338274404 | SDHB | c.203C>T (p.Ser68Leu) c.332C>T (p.Ser111Leu) c.374C>T (p.Ser125Leu) n.291C>T n.357+5C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028649G>C | CA16609939 | SDHB | c.203C>G (p.Ser68Ter) c.332C>G (p.Ser111Ter) c.374C>G (p.Ser125Ter) n.291C>G n.357+5C>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028649G= | CA1156080493 | SDHB | c.203C= (p.Ser68=) c.332C= (p.Ser111=) c.374C= (p.Ser125=) n.291C= n.357+5C= | |
1 | g.17028649G>T | CA015788 | SDHB | c.203C>A (p.Ser68Ter) c.332C>A (p.Ser111Ter) c.374C>A (p.Ser125Ter) n.291C>A n.357+5C>A | ClinVar dbSNP |
1 | g.17028650A>C | CA338274405 | SDHB | c.202T>G (p.Ser68Ala) c.331T>G (p.Ser111Ala) c.373T>G (p.Ser125Ala) n.290T>G n.357+4T>G | |
1 | g.17028650A>G | CA338274406 | SDHB | c.202T>C (p.Ser68Pro) c.331T>C (p.Ser111Pro) c.373T>C (p.Ser125Pro) n.290T>C n.357+4T>C | |
1 | g.17028650A>T | CA338274407 | SDHB | c.202T>A (p.Ser68Thr) c.331T>A (p.Ser111Thr) c.373T>A (p.Ser125Thr) n.290T>A n.357+4T>A | dbSNP |
1 | g.17028651G>A | CA416087702 | SDHB | c.201C>T (p.Val67=) c.330C>T (p.Val110=) c.372C>T (p.Val124=) n.289C>T n.357+3C>T | |
1 | g.17028651G>C | CA416087707 | SDHB | c.201C>G (p.Val67=) c.330C>G (p.Val110=) c.372C>G (p.Val124=) n.289C>G n.357+3C>G | |
1 | g.17028651G>T | CA416087705 | SDHB | c.201C>A (p.Val67=) c.330C>A (p.Val110=) c.372C>A (p.Val124=) n.289C>A n.357+3C>A | |
1 | g.17028652A= | CA1156080494 | SDHB | c.200T= (p.Val67=) c.329T= (p.Val110=) c.371T= (p.Val124=) n.288T= n.357+2T= | |
1 | g.17028652A>C | CA338274410 | SDHB | c.200T>G (p.Val67Gly) c.329T>G (p.Val110Gly) c.371T>G (p.Val124Gly) n.288T>G n.357+2T>G | |
1 | g.17028652A>G | CA338274420 | SDHB | c.200T>C (p.Val67Ala) c.329T>C (p.Val110Ala) c.371T>C (p.Val124Ala) n.288T>C n.357+2T>C | ClinVar dbSNP |
1 | g.17028652A>T | CA338274423 | SDHB | c.200T>A (p.Val67Asp) c.329T>A (p.Val110Asp) c.371T>A (p.Val124Asp) n.288T>A n.357+2T>A | |
1 | g.17028653C>A | CA18666648 | SDHB | c.199G>T (p.Val67Phe) c.328G>T (p.Val110Phe) c.370G>T (p.Val124Phe) n.287G>T n.357+1G>T | dbSNP |
1 | g.17028653C= | CA1156080495 | SDHB | c.199G= (p.Val67=) c.328G= (p.Val110=) c.370G= (p.Val124=) n.287G= n.357+1G= | |
1 | g.17028653C>G | CA338274429 | SDHB | c.199G>C (p.Val67Leu) c.328G>C (p.Val110Leu) c.370G>C (p.Val124Leu) n.287G>C n.357+1G>C | |
1 | g.17028653C>T | CA338274431 | SDHB | c.199G>A (p.Val67Ile) c.328G>A (p.Val110Ile) c.370G>A (p.Val124Ile) n.287G>A n.357+1G>A | ClinVar dbSNP |
1 | g.17028653_17028654insT | CA645509070 | SDHB | c.198_199insA (p.Val67SerfsTer?) c.327_328insA (p.Val110SerfsTer?) c.369_370insA (p.Val124SerfsTer?) n.286_287insA n.357_357+1insA | ClinVar dbSNP |
1 | g.17028654C>A | CA338274434 | SDHB | c.198G>T (p.Lys66Asn) c.327G>T (p.Lys109Asn) c.369G>T (p.Lys123Asn) n.286G>T n.357G>T | dbSNP |
1 | g.17028654C>G | CA338274440 | SDHB | c.198G>C (p.Lys66Asn) c.327G>C (p.Lys109Asn) c.369G>C (p.Lys123Asn) n.286G>C n.357G>C | |
1 | g.17028654C>T | CA416087738 | SDHB | c.198G>A (p.Lys66=) c.327G>A (p.Lys109=) c.369G>A (p.Lys123=) n.286G>A n.357G>A | ClinVar dbSNP |
1 | g.17028655T>A | CA338274447 | SDHB | c.197A>T (p.Lys66Met) c.326A>T (p.Lys109Met) c.368A>T (p.Lys123Met) n.285A>T n.356A>T | |
1 | g.17028655T>C | CA338274443 | SDHB | c.197A>G (p.Lys66Arg) c.326A>G (p.Lys109Arg) c.368A>G (p.Lys123Arg) n.285A>G n.356A>G | ClinVar dbSNP |
1 | g.17028655T>G | CA338274445 | SDHB | c.197A>C (p.Lys66Thr) c.326A>C (p.Lys109Thr) c.368A>C (p.Lys123Thr) n.285A>C n.356A>C | ClinVar dbSNP gnomAD v4 |
1 | g.17028655T= | CA1156080496 | SDHB | c.197A= (p.Lys66=) c.326A= (p.Lys109=) c.368A= (p.Lys123=) n.285A= n.356A= | |
1 | g.17028656T>A | CA338274450 | SDHB | c.196A>T (p.Lys66Ter) c.325A>T (p.Lys109Ter) c.367A>T (p.Lys123Ter) n.284A>T n.355A>T | |
1 | g.17028656T>C | CA338274454 | SDHB | c.196A>G (p.Lys66Glu) c.325A>G (p.Lys109Glu) c.367A>G (p.Lys123Glu) n.284A>G n.355A>G | ClinVar dbSNP |
1 | g.17028656T>G | CA338274459 | SDHB | c.196A>C (p.Lys66Gln) c.325A>C (p.Lys109Gln) c.367A>C (p.Lys123Gln) n.284A>C n.355A>C | |
1 | g.17028656T= | CA1156080497 | SDHB | c.196A= (p.Lys66=) c.325A= (p.Lys109=) c.367A= (p.Lys123=) n.284A= n.355A= | |
1 | g.17028657A= | CA1156080498 | SDHB | c.195T= (p.Asn65=) c.324T= (p.Asn108=) c.366T= (p.Asn122=) n.283T= n.354T= | |
1 | g.17028657A>C | CA338274461 | SDHB | c.195T>G (p.Asn65Lys) c.324T>G (p.Asn108Lys) c.366T>G (p.Asn122Lys) n.283T>G n.354T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028657A>G | CA416087756 | SDHB | c.195T>C (p.Asn65=) c.324T>C (p.Asn108=) c.366T>C (p.Asn122=) n.283T>C n.354T>C | |
1 | g.17028657A>T | CA338274466 | SDHB | c.195T>A (p.Asn65Lys) c.324T>A (p.Asn108Lys) c.366T>A (p.Asn122Lys) n.283T>A n.354T>A | |
1 | g.17028658T>A | CA338274472 | SDHB | c.194A>T (p.Asn65Ile) c.323A>T (p.Asn108Ile) c.365A>T (p.Asn122Ile) n.282A>T n.353A>T | |
1 | g.17028658T>C | CA338274471 | SDHB | c.194A>G (p.Asn65Ser) c.323A>G (p.Asn108Ser) c.365A>G (p.Asn122Ser) n.282A>G n.353A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028658T>G | CA338274470 | SDHB | c.194A>C (p.Asn65Thr) c.323A>C (p.Asn108Thr) c.365A>C (p.Asn122Thr) n.282A>C n.353A>C | |
1 | g.17028658T= | CA1156080499 | SDHB | c.194A= (p.Asn65=) c.323A= (p.Asn108=) c.365A= (p.Asn122=) n.282A= n.353A= | |
1 | g.17028659T>A | CA338274473 | SDHB | c.193A>T (p.Asn65Tyr) c.322A>T (p.Asn108Tyr) c.364A>T (p.Asn122Tyr) n.281A>T n.352A>T | |
1 | g.17028659T>C | CA338274474 | SDHB | c.193A>G (p.Asn65Asp) c.322A>G (p.Asn108Asp) c.364A>G (p.Asn122Asp) n.281A>G n.352A>G | |
1 | g.17028659T>G | CA338274475 | SDHB | c.193A>C (p.Asn65His) c.322A>C (p.Asn108His) c.364A>C (p.Asn122His) n.281A>C n.352A>C | |
1 | g.17028660G>A | CA18666653 | SDHB | c.192C>T (p.Leu64=) c.321C>T (p.Leu107=) c.363C>T (p.Leu121=) n.280C>T n.351C>T | ClinVar dbSNP |
1 | g.17028660G>C | CA416087770 | SDHB | c.192C>G (p.Leu64=) c.321C>G (p.Leu107=) c.363C>G (p.Leu121=) n.280C>G n.351C>G | |
1 | g.17028660G= | CA1156080500 | SDHB | c.192C= (p.Leu64=) c.321C= (p.Leu107=) c.363C= (p.Leu121=) n.280C= n.351C= | |
1 | g.17028660G>T | CA416087774 | SDHB | c.192C>A (p.Leu64=) c.321C>A (p.Leu107=) c.363C>A (p.Leu121=) n.280C>A n.351C>A | |
1 | g.17028661A= | CA1156080501 | SDHB | c.191T= (p.Leu64=) c.320T= (p.Leu107=) c.362T= (p.Leu121=) n.279T= n.350T= | |
1 | g.17028661A>C | CA338274477 | SDHB | c.191T>G (p.Leu64Arg) c.320T>G (p.Leu107Arg) c.362T>G (p.Leu121Arg) n.279T>G n.350T>G | |
1 | g.17028661A>G | CA089597 | SDHB | c.191T>C (p.Leu64Pro) c.320T>C (p.Leu107Pro) c.362T>C (p.Leu121Pro) n.279T>C n.350T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028661A>T | CA338274491 | SDHB | c.191T>A (p.Leu64His) c.320T>A (p.Leu107His) c.362T>A (p.Leu121His) n.279T>A n.350T>A | |
1 | g.17028662G>A | CA338274493 | SDHB | c.190C>T (p.Leu64Phe) c.319C>T (p.Leu107Phe) c.361C>T (p.Leu121Phe) n.278C>T n.349C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028662G>C | CA338274500 | SDHB | c.190C>G (p.Leu64Val) c.319C>G (p.Leu107Val) c.361C>G (p.Leu121Val) n.278C>G n.349C>G | |
1 | g.17028662G= | CA1156080502 | SDHB | c.190C= (p.Leu64=) c.319C= (p.Leu107=) c.361C= (p.Leu121=) n.278C= n.349C= | |
1 | g.17028662G>T | CA338274497 | SDHB | c.190C>A (p.Leu64Ile) c.319C>A (p.Leu107Ile) c.361C>A (p.Leu121Ile) n.278C>A n.349C>A | |
1 | g.17028663G>A | CA416087790 | SDHB | c.189C>T (p.Asn63=) c.318C>T (p.Asn106=) c.360C>T (p.Asn120=) n.277C>T n.348C>T | dbSNP |
1 | g.17028663G>C | CA338274503 | SDHB | c.189C>G (p.Asn63Lys) c.318C>G (p.Asn106Lys) c.360C>G (p.Asn120Lys) n.277C>G n.348C>G | |
1 | g.17028663G>T | CA338274504 | SDHB | c.189C>A (p.Asn63Lys) c.318C>A (p.Asn106Lys) c.360C>A (p.Asn120Lys) n.277C>A n.348C>A | |
1 | g.17028664T>A | CA338274508 | SDHB | c.188A>T (p.Asn63Ile) c.317A>T (p.Asn106Ile) c.359A>T (p.Asn120Ile) n.276A>T n.347A>T | ClinVar |
1 | g.17028664T>C | CA338274512 | SDHB | c.188A>G (p.Asn63Ser) c.317A>G (p.Asn106Ser) c.359A>G (p.Asn120Ser) n.276A>G n.347A>G | ClinVar dbSNP |
1 | g.17028664T>G | CA338274515 | SDHB | c.188A>C (p.Asn63Thr) c.317A>C (p.Asn106Thr) c.359A>C (p.Asn120Thr) n.276A>C n.347A>C | ClinVar gnomAD v4 |
1 | g.17028664T= | CA1156080503 | SDHB | c.188A= (p.Asn63=) c.317A= (p.Asn106=) c.359A= (p.Asn120=) n.276A= n.347A= | |
1 | g.17028665T>A | CA338274520 | SDHB | c.187A>T (p.Asn63Tyr) c.316A>T (p.Asn106Tyr) c.358A>T (p.Asn120Tyr) n.275A>T n.346A>T | |
1 | g.17028665T>C | CA338274521 | SDHB | c.187A>G (p.Asn63Asp) c.316A>G (p.Asn106Asp) c.358A>G (p.Asn120Asp) n.275A>G n.346A>G | |
1 | g.17028665T>G | CA338274522 | SDHB | c.187A>C (p.Asn63His) c.316A>C (p.Asn106His) c.358A>C (p.Asn120His) n.275A>C n.346A>C | |
1 | g.17028666G>A | CA416087806 | SDHB | c.186C>T (p.Thr62=) c.315C>T (p.Thr105=) c.357C>T (p.Thr119=) n.274C>T n.345C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028666G>C | CA416087809 | SDHB | c.186C>G (p.Thr62=) c.315C>G (p.Thr105=) c.357C>G (p.Thr119=) n.274C>G n.345C>G | |
1 | g.17028666G= | CA1156080504 | SDHB | c.186C= (p.Thr62=) c.315C= (p.Thr105=) c.357C= (p.Thr119=) n.274C= n.345C= | |
1 | g.17028666G>T | CA416087807 | SDHB | c.186C>A (p.Thr62=) c.315C>A (p.Thr105=) c.357C>A (p.Thr119=) n.274C>A n.345C>A | |
1 | g.17028667G>A | CA18666654 | SDHB | c.185C>T (p.Thr62Ile) c.314C>T (p.Thr105Ile) c.356C>T (p.Thr119Ile) n.273C>T n.344C>T | dbSNP |
1 | g.17028667G>C | CA338274530 | SDHB | c.185C>G (p.Thr62Ser) c.314C>G (p.Thr105Ser) c.356C>G (p.Thr119Ser) n.273C>G n.344C>G | dbSNP |
1 | g.17028667G= | CA1140263947 | SDHB | c.185C= (p.Thr62=) c.314C= (p.Thr105=) c.356C= (p.Thr119=) n.273C= n.344C= | |
1 | g.17028667G>T | CA089596 | SDHB | c.185C>A (p.Thr62Asn) c.314C>A (p.Thr105Asn) c.356C>A (p.Thr119Asn) n.273C>A n.344C>A | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.17028668T>A | CA338274534 | SDHB | c.184A>T (p.Thr62Ser) c.313A>T (p.Thr105Ser) c.355A>T (p.Thr119Ser) n.272A>T n.343A>T | |
1 | g.17028668T>C | CA338274541 | SDHB | c.184A>G (p.Thr62Ala) c.313A>G (p.Thr105Ala) c.355A>G (p.Thr119Ala) n.272A>G n.343A>G | |
1 | g.17028668T>G | CA338274538 | SDHB | c.184A>C (p.Thr62Pro) c.313A>C (p.Thr105Pro) c.355A>C (p.Thr119Pro) n.272A>C n.343A>C | |
1 | g.17028669G>A | CA416087828 | SDHB | c.183C>T (p.Asp61=) c.312C>T (p.Asp104=) c.354C>T (p.Asp118=) n.271C>T n.342C>T | dbSNP gnomAD v4 |
1 | g.17028669G>C | CA338274546 | SDHB | c.183C>G (p.Asp61Glu) c.312C>G (p.Asp104Glu) c.354C>G (p.Asp118Glu) n.271C>G n.342C>G | |
1 | g.17028669G>T | CA338274548 | SDHB | c.183C>A (p.Asp61Glu) c.312C>A (p.Asp104Glu) c.354C>A (p.Asp118Glu) n.271C>A n.342C>A | |
1 | g.17028670T>A | CA338274551 | SDHB | c.182A>T (p.Asp61Val) c.311A>T (p.Asp104Val) c.353A>T (p.Asp118Val) n.270A>T n.341A>T | |
1 | g.17028670T>C | CA338274559 | SDHB | c.182A>G (p.Asp61Gly) c.311A>G (p.Asp104Gly) c.353A>G (p.Asp118Gly) n.270A>G n.341A>G | dbSNP |
1 | g.17028670T>G | CA338274556 | SDHB | c.182A>C (p.Asp61Ala) c.311A>C (p.Asp104Ala) c.353A>C (p.Asp118Ala) n.270A>C n.341A>C | gnomAD v4 |
1 | g.17028670_17028675delinsTCAATC | CA1156080505 | SDHB | c.177_182delinsGATTGA (p.Arg59=) c.306_311delinsGATTGA (p.Arg102=) c.348_353delinsGATTGA (p.Arg116=) n.265_270delinsGATTGA n.336_341delinsGATTGA | |
1 | g.17028671C>A | CA015778 | SDHB | c.181G>T (p.Asp61Tyr) c.310G>T (p.Asp104Tyr) c.352G>T (p.Asp118Tyr) n.269G>T n.340G>T | ClinVar dbSNP |
1 | g.17028671C= | CA1143390144 | SDHB | c.181G= (p.Asp61=) c.310G= (p.Asp104=) c.352G= (p.Asp118=) n.269G= n.340G= | |
1 | g.17028671C>G | CA338274577 | SDHB | c.181G>C (p.Asp61His) c.310G>C (p.Asp104His) c.352G>C (p.Asp118His) n.269G>C n.340G>C | |
1 | g.17028671C>T | CA089595 | SDHB | c.181G>A (p.Asp61Asn) c.310G>A (p.Asp104Asn) c.352G>A (p.Asp118Asn) n.269G>A n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028672_17028676del | CA521039524 | SDHB | c.177_181del (p.Ile60HisfsTer5) c.306_310del (p.Ile103HisfsTer5) c.348_352del (p.Ile117HisfsTer5) n.265_269del n.336_340del | ClinVar dbSNP gnomAD v2 |
1 | g.17028674_17028687del | CA658655534 | SDHB | c.168_181del (p.Cys56Ter) c.297_310del (p.Cys99Ter) c.339_352del (p.Cys113Ter) n.256_269del n.327_340del | |
1 | g.17028672A>C | CA338274580 | SDHB | c.180T>G (p.Ile60Met) c.309T>G (p.Ile103Met) c.351T>G (p.Ile117Met) n.268T>G n.339T>G | |
1 | g.17028672A>G | CA416087847 | SDHB | c.180T>C (p.Ile60=) c.309T>C (p.Ile103=) c.351T>C (p.Ile117=) n.268T>C n.339T>C | |
1 | g.17028672A>T | CA416087849 | SDHB | c.180T>A (p.Ile60=) c.309T>A (p.Ile103=) c.351T>A (p.Ile117=) n.268T>A n.339T>A | ClinVar dbSNP |
1 | g.17028673A= | CA1156080506 | SDHB | c.179T= (p.Ile60=) c.308T= (p.Ile103=) c.350T= (p.Ile117=) n.267T= n.338T= | |
1 | g.17028673A>C | CA338274592 | SDHB | c.179T>G (p.Ile60Ser) c.308T>G (p.Ile103Ser) c.350T>G (p.Ile117Ser) n.267T>G n.338T>G | |
1 | g.17028673A>G | CA338274586 | SDHB | c.179T>C (p.Ile60Thr) c.308T>C (p.Ile103Thr) c.350T>C (p.Ile117Thr) n.267T>C n.338T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028673A>T | CA338274593 | SDHB | c.179T>A (p.Ile60Asn) c.308T>A (p.Ile103Asn) c.350T>A (p.Ile117Asn) n.267T>A n.338T>A | |
1 | g.17028674T>A | CA338274597 | SDHB | c.178A>T (p.Ile60Phe) c.307A>T (p.Ile103Phe) c.349A>T (p.Ile117Phe) n.266A>T n.337A>T | |
1 | g.17028674T>C | CA338274611 | SDHB | c.178A>G (p.Ile60Val) c.307A>G (p.Ile103Val) c.349A>G (p.Ile117Val) n.266A>G n.337A>G | ClinVar |
1 | g.17028674T>G | CA338274616 | SDHB | c.178A>C (p.Ile60Leu) c.307A>C (p.Ile103Leu) c.349A>C (p.Ile117Leu) n.266A>C n.337A>C | |
1 | g.17028675C>A | CA338274621 | SDHB | c.177G>T (p.Arg59Ser) c.306G>T (p.Arg102Ser) c.348G>T (p.Arg116Ser) n.265G>T n.336G>T | ClinVar dbSNP |
1 | g.17028675C= | CA1156080507 | SDHB | c.177G= (p.Arg59=) c.306G= (p.Arg102=) c.348G= (p.Arg116=) n.265G= n.336G= | |
1 | g.17028675C>G | CA338274626 | SDHB | c.177G>C (p.Arg59Ser) c.306G>C (p.Arg102Ser) c.348G>C (p.Arg116Ser) n.265G>C n.336G>C | dbSNP |
1 | g.17028675C>T | CA416087861 | SDHB | c.177G>A (p.Arg59=) c.306G>A (p.Arg102=) c.348G>A (p.Arg116=) n.265G>A n.336G>A | gnomAD v4 |
1 | g.17028676C>A | CA338274628 | SDHB | c.176G>T (p.Arg59Met) c.305G>T (p.Arg102Met) c.347G>T (p.Arg116Met) n.264G>T n.335G>T | ClinVar dbSNP |
1 | g.17028676C= | CA1156080508 | SDHB | c.176G= (p.Arg59=) c.305G= (p.Arg102=) c.347G= (p.Arg116=) n.264G= n.335G= | |
1 | g.17028676C>G | CA089593 | SDHB | c.176G>C (p.Arg59Thr) c.305G>C (p.Arg102Thr) c.347G>C (p.Arg116Thr) n.264G>C n.335G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028676C>T | CA338274648 | SDHB | c.176G>A (p.Arg59Lys) c.305G>A (p.Arg102Lys) c.347G>A (p.Arg116Lys) n.264G>A n.335G>A | ClinVar |
1 | g.17028677T>A | CA338274668 | SDHB | c.175A>T (p.Arg59Trp) c.304A>T (p.Arg102Trp) c.346A>T (p.Arg116Trp) n.263A>T n.334A>T | |
1 | g.17028677T>C | CA338274673 | SDHB | c.175A>G (p.Arg59Gly) c.304A>G (p.Arg102Gly) c.346A>G (p.Arg116Gly) n.263A>G n.334A>G | |
1 | g.17028677T>G | CA416087879 | SDHB | c.175A>C (p.Arg59=) c.304A>C (p.Arg102=) c.346A>C (p.Arg116=) n.263A>C n.334A>C | ClinVar |
1 | g.17028678T>A | CA416087883 | SDHB | c.174A>T (p.Arg58=) c.303A>T (p.Arg101=) c.345A>T (p.Arg115=) n.262A>T n.333A>T | |
1 | g.17028678T>C | CA416087884 | SDHB | c.174A>G (p.Arg58=) c.303A>G (p.Arg101=) c.345A>G (p.Arg115=) n.262A>G n.333A>G | |
1 | g.17028678T>G | CA416087885 | SDHB | c.174A>C (p.Arg58=) c.303A>C (p.Arg101=) c.345A>C (p.Arg115=) n.262A>C n.333A>C | |
1 | g.17028679C>A | CA089592 | SDHB | c.173G>T (p.Arg58Leu) c.302G>T (p.Arg101Leu) c.344G>T (p.Arg115Leu) n.261G>T n.332G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028679C= | CA1143451603 | SDHB | c.173G= (p.Arg58=) c.302G= (p.Arg101=) c.344G= (p.Arg115=) n.261G= n.332G= | |
1 | g.17028679C>G | CA338274685 | SDHB | c.173G>C (p.Arg58Pro) c.302G>C (p.Arg101Pro) c.344G>C (p.Arg115Pro) n.261G>C n.332G>C | dbSNP |
1 | g.17028679C>T | CA015769 | SDHB | c.173G>A (p.Arg58Gln) c.302G>A (p.Arg101Gln) c.344G>A (p.Arg115Gln) n.261G>A n.332G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028680G>A | CA015763 | SDHB | c.172C>T (p.Arg58Ter) c.301C>T (p.Arg101Ter) c.343C>T (p.Arg115Ter) n.260C>T n.331C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.17028680G>C | CA338274697 | SDHB | c.172C>G (p.Arg58Gly) c.301C>G (p.Arg101Gly) c.343C>G (p.Arg115Gly) n.260C>G n.331C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028680G= | CA1156080509 | SDHB | c.172C= (p.Arg58=) c.301C= (p.Arg101=) c.343C= (p.Arg115=) n.260C= n.331C= | |
1 | g.17028680G>T | CA416087896 | SDHB | c.172C>A (p.Arg58=) c.301C>A (p.Arg101=) c.343C>A (p.Arg115=) n.260C>A n.331C>A | |
1 | g.17028681G>A | CA18666709 | SDHB | c.171C>T (p.Thr57=) c.300C>T (p.Thr100=) c.342C>T (p.Thr114=) n.259C>T n.330C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028681G>C | CA416087903 | SDHB | c.171C>G (p.Thr57=) c.300C>G (p.Thr100=) c.342C>G (p.Thr114=) n.259C>G n.330C>G | ClinVar |
1 | g.17028681G= | CA1144336504 | SDHB | c.171C= (p.Thr57=) c.300C= (p.Thr100=) c.342C= (p.Thr114=) n.259C= n.330C= | |
1 | g.17028681G>T | CA416087902 | SDHB | c.171C>A (p.Thr57=) c.300C>A (p.Thr100=) c.342C>A (p.Thr114=) n.259C>A n.330C>A | ClinVar |
1 | g.17028682G>A | CA338274733 | SDHB | c.170C>T (p.Thr57Ile) c.299C>T (p.Thr100Ile) c.341C>T (p.Thr114Ile) n.258C>T n.329C>T | ClinVar |
1 | g.17028682G>C | CA338274737 | SDHB | c.170C>G (p.Thr57Ser) c.299C>G (p.Thr100Ser) c.341C>G (p.Thr114Ser) n.258C>G n.329C>G | |
1 | g.17028682G>T | CA338274739 | SDHB | c.170C>A (p.Thr57Asn) c.299C>A (p.Thr100Asn) c.341C>A (p.Thr114Asn) n.258C>A n.329C>A | |
1 | g.17028683T>A | CA338274743 | SDHB | c.169A>T (p.Thr57Ser) c.298A>T (p.Thr100Ser) c.340A>T (p.Thr114Ser) n.257A>T n.328A>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028683T>C | CA338274746 | SDHB | c.169A>G (p.Thr57Ala) c.298A>G (p.Thr100Ala) c.340A>G (p.Thr114Ala) n.257A>G n.328A>G | ClinVar dbSNP |
1 | g.17028683T>G | CA338274750 | SDHB | c.169A>C (p.Thr57Pro) c.298A>C (p.Thr100Pro) c.340A>C (p.Thr114Pro) n.257A>C n.328A>C | dbSNP |
1 | g.17028683T= | CA1156080510 | SDHB | c.169A= (p.Thr57=) c.298A= (p.Thr100=) c.340A= (p.Thr114=) n.257A= n.328A= | |
1 | g.17028684G>A | CA089590 | SDHB | c.168C>T (p.Cys56=) c.297C>T (p.Cys99=) c.339C>T (p.Cys113=) n.256C>T n.327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028684G>C | CA338274759 | SDHB | c.168C>G (p.Cys56Trp) c.297C>G (p.Cys99Trp) c.339C>G (p.Cys113Trp) n.256C>G n.327C>G | |
1 | g.17028684G= | CA1156080511 | SDHB | c.168C= (p.Cys56=) c.297C= (p.Cys99=) c.339C= (p.Cys113=) n.256C= n.327C= | |
1 | g.17028684G>T | CA338274765 | SDHB | c.168C>A (p.Cys56Ter) c.297C>A (p.Cys99Ter) c.339C>A (p.Cys113Ter) n.256C>A n.327C>A | |
1 | g.17028685C>A | CA338274771 | SDHB | c.167G>T (p.Cys56Phe) c.296G>T (p.Cys99Phe) c.338G>T (p.Cys113Phe) n.255G>T n.326G>T | dbSNP |
1 | g.17028685C= | CA1156080512 | SDHB | c.167G= (p.Cys56=) c.296G= (p.Cys99=) c.338G= (p.Cys113=) n.255G= n.326G= | |
1 | g.17028685C>G | CA279931 | SDHB | c.167G>C (p.Cys56Ser) c.296G>C (p.Cys99Ser) c.338G>C (p.Cys113Ser) n.255G>C n.326G>C | ClinVar dbSNP |
1 | g.17028685C>T | CA338274769 | SDHB | c.167G>A (p.Cys56Tyr) c.296G>A (p.Cys99Tyr) c.338G>A (p.Cys113Tyr) n.255G>A n.326G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17028686A= | CA1156080513 | SDHB | c.166T= (p.Cys56=) c.295T= (p.Cys99=) c.337T= (p.Cys113=) n.254T= n.325T= | |
1 | g.17028686A>C | CA338274774 | SDHB | c.166T>G (p.Cys56Gly) c.295T>G (p.Cys99Gly) c.337T>G (p.Cys113Gly) n.254T>G n.325T>G | ClinVar dbSNP |
1 | g.17028686A>G | CA338274776 | SDHB | c.166T>C (p.Cys56Arg) c.295T>C (p.Cys99Arg) c.337T>C (p.Cys113Arg) n.254T>C n.325T>C | |
1 | g.17028686A>T | CA338274780 | SDHB | c.166T>A (p.Cys56Ser) c.295T>A (p.Cys99Ser) c.337T>A (p.Cys113Ser) n.254T>A n.325T>A | |
1 | g.17028687A>C | CA416087915 | SDHB | c.165T>G (p.Ala55=) c.294T>G (p.Ala98=) c.336T>G (p.Ala112=) n.253T>G n.324T>G | gnomAD v4 |
1 | g.17028687A>G | CA416087916 | SDHB | c.165T>C (p.Ala55=) c.294T>C (p.Ala98=) c.336T>C (p.Ala112=) n.253T>C n.324T>C | ClinVar dbSNP |
1 | g.17028687A>T | CA416087918 | SDHB | c.165T>A (p.Ala55=) c.294T>A (p.Ala98=) c.336T>A (p.Ala112=) n.253T>A n.324T>A | |
1 | g.17028688G>A | CA338274791 | SDHB | c.164C>T (p.Ala55Val) c.293C>T (p.Ala98Val) c.335C>T (p.Ala112Val) n.252C>T n.323C>T | ClinVar dbSNP |
1 | g.17028688G>C | CA338274795 | SDHB | c.164C>G (p.Ala55Gly) c.293C>G (p.Ala98Gly) c.335C>G (p.Ala112Gly) n.252C>G n.323C>G | ClinVar dbSNP |
1 | g.17028688G= | CA1156080514 | SDHB | c.164C= (p.Ala55=) c.293C= (p.Ala98=) c.335C= (p.Ala112=) n.252C= n.323C= | |
1 | g.17028688G>T | CA338274814 | SDHB | c.164C>A (p.Ala55Asp) c.293C>A (p.Ala98Asp) c.335C>A (p.Ala112Asp) n.252C>A n.323C>A | |
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.17028689C>A | CA338274817 | SDHB | c.163G>T (p.Ala55Ser) c.292G>T (p.Ala98Ser) c.334G>T (p.Ala112Ser) n.251G>T n.322G>T | gnomAD v4 |
1 | g.17028689C= | CA1156080515 | SDHB | c.163G= (p.Ala55=) c.292G= (p.Ala98=) c.334G= (p.Ala112=) n.251G= n.322G= | |
1 | g.17028689C>G | CA338274820 | SDHB | c.163G>C (p.Ala55Pro) c.292G>C (p.Ala98Pro) c.334G>C (p.Ala112Pro) n.251G>C n.322G>C | |
1 | g.17028689C>T | CA338274826 | SDHB | c.163G>A (p.Ala55Thr) c.292G>A (p.Ala98Thr) c.334G>A (p.Ala112Thr) n.251G>A n.322G>A | |
1 | g.17028689_17028691del | CA658655533 | SDHB | c.161_163del (p.Leu54_Ala55delinsPro) c.290_292del (p.Leu97_Ala98delinsPro) c.332_334del (p.Leu111_Ala112delinsPro) n.249_251del n.320_322del | |
1 | g.17028690T>A | CA416087934 | SDHB | c.162A>T (p.Leu54=) c.291A>T (p.Leu97=) c.333A>T (p.Leu111=) n.250A>T n.321A>T | dbSNP |
1 | g.17028690T>C | CA416087937 | SDHB | c.162A>G (p.Leu54=) c.291A>G (p.Leu97=) c.333A>G (p.Leu111=) n.250A>G n.321A>G | ClinVar dbSNP |
1 | g.17028690T>G | CA416087940 | SDHB | c.162A>C (p.Leu54=) c.291A>C (p.Leu97=) c.333A>C (p.Leu111=) n.250A>C n.321A>C | |
1 | g.17028690_17028692delinsTAG | CA1156080516 | SDHB | c.160_162delinsCTA (p.Leu54=) c.289_291delinsCTA (p.Leu97=) c.331_333delinsCTA (p.Leu111=) n.248_250delinsCTA n.319_321delinsCTA | |
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.17028691A= | CA1156080517 | SDHB | c.161T= (p.Leu54=) c.290T= (p.Leu97=) c.332T= (p.Leu111=) n.249T= n.320T= | |
1 | g.17028691A>C | CA338274835 | SDHB | c.161T>G (p.Leu54Arg) c.290T>G (p.Leu97Arg) c.332T>G (p.Leu111Arg) n.249T>G n.320T>G | gnomAD v4 |
1 | g.17028691A>G | CA338274838 | SDHB | c.161T>C (p.Leu54Pro) c.290T>C (p.Leu97Pro) c.332T>C (p.Leu111Pro) n.249T>C n.320T>C | ClinVar dbSNP |
1 | g.17028691A>T | CA338274830 | SDHB | c.161T>A (p.Leu54Gln) c.290T>A (p.Leu97Gln) c.332T>A (p.Leu111Gln) n.249T>A n.320T>A | |
1 | g.17028691_17028692delinsTT | CA2580060619 | SDHB | c.160_161delinsAA (p.Leu54Lys) c.289_290delinsAA (p.Leu97Lys) c.331_332delinsAA (p.Leu111Lys) n.248_249delinsAA n.319_320delinsAA | ClinVar |
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.17028692G>A | CA416087948 | SDHB | c.160C>T (p.Leu54=) c.289C>T (p.Leu97=) c.331C>T (p.Leu111=) n.248C>T n.319C>T | ClinVar gnomAD v4 |
1 | g.17028692G>C | CA338274842 | SDHB | c.160C>G (p.Leu54Val) c.289C>G (p.Leu97Val) c.331C>G (p.Leu111Val) n.248C>G n.319C>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028692G= | CA1156080518 | SDHB | c.160C= (p.Leu54=) c.289C= (p.Leu97=) c.331C= (p.Leu111=) n.248C= n.319C= | |
1 | g.17028692G>T | CA338274843 | SDHB | c.160C>A (p.Leu54Ile) c.289C>A (p.Leu97Ile) c.331C>A (p.Leu111Ile) n.248C>A n.319C>A | |
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 | |
1 | g.17028706T>C | CA16609940 | SDHB | c.146A>G (p.Asn49Ser) c.275A>G (p.Asn92Ser) c.317A>G (p.Asn106Ser) n.234A>G n.305A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17028706T>G | CA338274945 | SDHB | c.146A>C (p.Asn49Thr) c.275A>C (p.Asn92Thr) c.317A>C (p.Asn106Thr) n.234A>C n.305A>C | |
1 | g.17028706T= | CA1156080525 | SDHB | c.146A= (p.Asn49=) c.275A= (p.Asn92=) c.317A= (p.Asn106=) n.234A= n.305A= | |
1 | g.17028707T>A | CA338274959 | SDHB | c.145A>T (p.Asn49Tyr) c.274A>T (p.Asn92Tyr) c.316A>T (p.Asn106Tyr) n.233A>T n.304A>T | |
1 | g.17028707T>C | CA338274961 | SDHB | c.145A>G (p.Asn49Asp) c.274A>G (p.Asn92Asp) c.316A>G (p.Asn106Asp) n.233A>G n.304A>G | ClinVar dbSNP |
1 | g.17028707T>G | CA338274965 | SDHB | c.145A>C (p.Asn49His) c.274A>C (p.Asn92His) c.316A>C (p.Asn106His) n.233A>C n.304A>C | |
1 | g.17028707T= | CA1156080526 | SDHB | c.145A= (p.Asn49=) c.274A= (p.Asn92=) c.316A= (p.Asn106=) n.233A= n.304A= | |
1 | g.17028709_17028711del | CA658655531 | SDHB | c.143_145del (p.Ile48del) c.272_274del (p.Ile91del) c.314_316del (p.Ile105del) n.231_233del n.302_304del | |
1 | g.17028708G>A | CA416088029 | SDHB | c.144C>T (p.Ile48=) c.273C>T (p.Ile91=) c.315C>T (p.Ile105=) n.232C>T n.303C>T | ClinVar |
1 | g.17028708G>C | CA338274968 | SDHB | c.144C>G (p.Ile48Met) c.273C>G (p.Ile91Met) c.315C>G (p.Ile105Met) n.232C>G n.303C>G | ClinVar |
1 | g.17028708G>T | CA416088031 | SDHB | c.144C>A (p.Ile48=) c.273C>A (p.Ile91=) c.315C>A (p.Ile105=) n.232C>A n.303C>A | |
1 | g.17028708_17028718del | CA2580060626 | SDHB | c.134_144del (p.Ala45GlufsTer13) c.263_273del (p.Ala88GlufsTer13) c.305_315del (p.Ala102GlufsTer13) n.222_232del n.293_303del | ClinVar |
1 | g.17028709A= | CA1156080527 | SDHB | c.143T= (p.Ile48=) c.272T= (p.Ile91=) c.314T= (p.Ile105=) n.231T= n.302T= | |
1 | g.17028709A>C | CA338274976 | SDHB | c.143T>G (p.Ile48Ser) c.272T>G (p.Ile91Ser) c.314T>G (p.Ile105Ser) n.231T>G n.302T>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028709A>G | CA338274980 | SDHB | c.143T>C (p.Ile48Thr) c.272T>C (p.Ile91Thr) c.314T>C (p.Ile105Thr) n.231T>C n.302T>C | |
1 | g.17028709A>T | CA338274981 | SDHB | c.143T>A (p.Ile48Asn) c.272T>A (p.Ile91Asn) c.314T>A (p.Ile105Asn) n.231T>A n.302T>A | |
1 | g.17028710T>A | CA338274990 | SDHB | c.142A>T (p.Ile48Phe) c.271A>T (p.Ile91Phe) c.313A>T (p.Ile105Phe) n.230A>T n.301A>T | ClinVar |
1 | g.17028710T>C | CA338274995 | SDHB | c.142A>G (p.Ile48Val) c.271A>G (p.Ile91Val) c.313A>G (p.Ile105Val) n.230A>G n.301A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17028710T>G | CA338274997 | SDHB | c.142A>C (p.Ile48Leu) c.271A>C (p.Ile91Leu) c.313A>C (p.Ile105Leu) n.230A>C n.301A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028710T= | CA1156080528 | SDHB | c.142A= (p.Ile48=) c.271A= (p.Ile91=) c.313A= (p.Ile105=) n.230A= n.301A= | |
1 | g.17028712_17028713insGCAGTGT | CA2586966132 | SDHB | c.142_143insCTGCACA (p.Ile48ThrfsTer16) c.271_272insCTGCACA (p.Ile91ThrfsTer16) c.313_314insCTGCACA (p.Ile105ThrfsTer16) n.230_231insCTGCACA n.301_302insCTGCACA | |
1 | g.17028711G>A | CA10577677 | SDHB | c.141C>T (p.Asn47=) c.270C>T (p.Asn90=) c.312C>T (p.Asn104=) n.229C>T n.300C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028711G>C | CA338275011 | SDHB | c.141C>G (p.Asn47Lys) c.270C>G (p.Asn90Lys) c.312C>G (p.Asn104Lys) n.229C>G n.300C>G | dbSNP gnomAD v4 |
1 | g.17028711G= | CA1156080529 | SDHB | c.141C= (p.Asn47=) c.270C= (p.Asn90=) c.312C= (p.Asn104=) n.229C= n.300C= | |
1 | g.17028711G>T | CA338275006 | SDHB | c.141C>A (p.Asn47Lys) c.270C>A (p.Asn90Lys) c.312C>A (p.Asn104Lys) n.229C>A n.300C>A | |
1 | g.17028711_17028712delinsGT | CA1156080530 | SDHB | c.140_141delinsAC (p.Asn47=) c.269_270delinsAC (p.Asn90=) c.311_312delinsAC (p.Asn104=) n.228_229delinsAC n.299_300delinsAC | |
1 | g.17028711_17028712insC | CA338275015 | SDHB | c.140_141insG (p.Asn47LysfsTer15) c.269_270insG (p.Asn90LysfsTer15) c.311_312insG (p.Asn104LysfsTer15) n.228_229insG n.299_300insG | dbSNP gnomAD v4 |
1 | g.17028712T>A | CA338275031 | SDHB | c.140A>T (p.Asn47Ile) c.269A>T (p.Asn90Ile) c.311A>T (p.Asn104Ile) n.228A>T n.299A>T | |
1 | g.17028712T>C | CA338275033 | SDHB | c.140A>G (p.Asn47Ser) c.269A>G (p.Asn90Ser) c.311A>G (p.Asn104Ser) n.228A>G n.299A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028712T>G | CA338275035 | SDHB | c.140A>C (p.Asn47Thr) c.269A>C (p.Asn90Thr) c.311A>C (p.Asn104Thr) n.228A>C n.299A>C | |
1 | g.17028712T= | CA1156080531 | SDHB | c.140A= (p.Asn47=) c.269A= (p.Asn90=) c.311A= (p.Asn104=) n.228A= n.299A= | |
1 | g.17028712delinsCC | CA188076 | SDHB | c.140delinsGG (p.Asn47ArgfsTer15) c.269delinsGG (p.Asn90ArgfsTer15) c.311delinsGG (p.Asn104ArgfsTer15) n.228delinsGG n.299delinsGG | ClinVar dbSNP |
1 | g.17028712_17028713insC | CA2837995432 | SDHB | c.139_140insG (p.Asn47ArgfsTer15) c.268_269insG (p.Asn90ArgfsTer15) c.310_311insG (p.Asn104ArgfsTer15) n.227_228insG n.298_299insG | |
1 | g.17028713T>A | CA338275041 | SDHB | c.139A>T (p.Asn47Tyr) c.268A>T (p.Asn90Tyr) c.310A>T (p.Asn104Tyr) n.227A>T n.298A>T | |
1 | g.17028713T>C | CA338275040 | SDHB | c.139A>G (p.Asn47Asp) c.268A>G (p.Asn90Asp) c.310A>G (p.Asn104Asp) n.227A>G n.298A>G | |
1 | g.17028713T>G | CA338275038 | SDHB | c.139A>C (p.Asn47His) c.268A>C (p.Asn90His) c.310A>C (p.Asn104His) n.227A>C n.298A>C | |
1 | g.17028714C>A | CA338275043 | SDHB | c.138G>T (p.Met46Ile) c.267G>T (p.Met89Ile) c.309G>T (p.Met103Ile) n.226G>T n.297G>T | |
1 | g.17028714C= | CA1156080532 | SDHB | c.138G= (p.Met46=) c.267G= (p.Met89=) c.309G= (p.Met103=) n.226G= n.297G= | |
1 | g.17028714C>G | CA338275045 | SDHB | c.138G>C (p.Met46Ile) c.267G>C (p.Met89Ile) c.309G>C (p.Met103Ile) n.226G>C n.297G>C | |
1 | g.17028714C>T | CA338275048 | SDHB | c.138G>A (p.Met46Ile) c.267G>A (p.Met89Ile) c.309G>A (p.Met103Ile) n.226G>A n.297G>A | ClinVar dbSNP |
1 | g.17028715A= | CA1156080533 | SDHB | c.137T= (p.Met46=) c.266T= (p.Met89=) c.308T= (p.Met103=) n.225T= n.296T= | |
1 | g.17028715A>C | CA338275051 | SDHB | c.137T>G (p.Met46Arg) c.266T>G (p.Met89Arg) c.308T>G (p.Met103Arg) n.225T>G n.296T>G | ClinVar dbSNP |
1 | g.17028715A>G | CA338275056 | SDHB | c.137T>C (p.Met46Thr) c.266T>C (p.Met89Thr) c.308T>C (p.Met103Thr) n.225T>C n.296T>C | ClinVar dbSNP gnomAD v4 |
1 | g.17028715A>T | CA338275065 | SDHB | c.137T>A (p.Met46Lys) c.266T>A (p.Met89Lys) c.308T>A (p.Met103Lys) n.225T>A n.296T>A | |
1 | g.17028716T>A | CA338275068 | SDHB | c.136A>T (p.Met46Leu) c.265A>T (p.Met89Leu) c.307A>T (p.Met103Leu) n.224A>T n.295A>T | |
1 | g.17028716T>C | CA089584 | SDHB | c.136A>G (p.Met46Val) c.265A>G (p.Met89Val) c.307A>G (p.Met103Val) n.224A>G n.295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028716T>G | CA338275074 | SDHB | c.136A>C (p.Met46Leu) c.265A>C (p.Met89Leu) c.307A>C (p.Met103Leu) n.224A>C n.295A>C | |
1 | g.17028716T= | CA1141726522 | SDHB | c.136A= (p.Met46=) c.265A= (p.Met89=) c.307A= (p.Met103=) n.224A= n.295A= | |
1 | g.17028717T>A | CA416088071 | SDHB | c.135A>T (p.Ala45=) c.264A>T (p.Ala88=) c.306A>T (p.Ala102=) n.223A>T n.294A>T | |
1 | g.17028717T>C | CA416088073 | SDHB | c.135A>G (p.Ala45=) c.264A>G (p.Ala88=) c.306A>G (p.Ala102=) n.223A>G n.294A>G | ClinVar dbSNP |
1 | g.17028717T>G | CA416088075 | SDHB | c.135A>C (p.Ala45=) c.264A>C (p.Ala88=) c.306A>C (p.Ala102=) n.223A>C n.294A>C | gnomAD v4 |
1 | g.17028717T= | CA1156080534 | SDHB | c.135A= (p.Ala45=) c.264A= (p.Ala88=) c.306A= (p.Ala102=) n.223A= n.294A= | |
1 | g.17028718G>A | CA338275075 | SDHB | c.134C>T (p.Ala45Val) c.263C>T (p.Ala88Val) c.305C>T (p.Ala102Val) n.222C>T n.293C>T | ClinVar dbSNP |
1 | g.17028718G>C | CA338275077 | SDHB | c.134C>G (p.Ala45Gly) c.263C>G (p.Ala88Gly) c.305C>G (p.Ala102Gly) n.222C>G n.293C>G | |
1 | g.17028718G>T | CA338275080 | SDHB | c.134C>A (p.Ala45Glu) c.263C>A (p.Ala88Glu) c.305C>A (p.Ala102Glu) n.222C>A n.293C>A | |
1 | g.17028719C>A | CA338275083 | SDHB | c.133G>T (p.Ala45Ser) c.262G>T (p.Ala88Ser) c.304G>T (p.Ala102Ser) n.221G>T n.292G>T | |
1 | g.17028719C= | CA1156080535 | SDHB | c.133G= (p.Ala45=) c.262G= (p.Ala88=) c.304G= (p.Ala102=) n.221G= n.292G= | |
1 | g.17028719C>G | CA338275085 | SDHB | c.133G>C (p.Ala45Pro) c.262G>C (p.Ala88Pro) c.304G>C (p.Ala102Pro) n.221G>C n.292G>C | |
1 | g.17028719C>T | CA089583 | SDHB | c.133G>A (p.Ala45Thr) c.262G>A (p.Ala88Thr) c.304G>A (p.Ala102Thr) n.221G>A n.292G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028720A>C | CA338275096 | SDHB | c.132T>G (p.Cys44Trp) c.261T>G (p.Cys87Trp) c.303T>G (p.Cys101Trp) n.220T>G n.291T>G | |
1 | g.17028720A>G | CA416088090 | SDHB | c.132T>C (p.Cys44=) c.261T>C (p.Cys87=) c.303T>C (p.Cys101=) n.220T>C n.291T>C | ClinVar dbSNP |
1 | g.17028720A>T | CA338275098 | SDHB | c.132T>A (p.Cys44Ter) c.261T>A (p.Cys87Ter) c.303T>A (p.Cys101Ter) n.220T>A n.291T>A | |
1 | g.17028721C>A | CA338275113 | SDHB | c.131G>T (p.Cys44Phe) c.260G>T (p.Cys87Phe) c.302G>T (p.Cys101Phe) n.219G>T n.290G>T | |
1 | g.17028721C= | CA1140886349 | SDHB | c.131G= (p.Cys44=) c.260G= (p.Cys87=) c.302G= (p.Cys101=) n.219G= n.290G= | |
1 | g.17028721C>G | CA338275116 | SDHB | c.131G>C (p.Cys44Ser) c.260G>C (p.Cys87Ser) c.302G>C (p.Cys101Ser) n.219G>C n.290G>C | ClinVar dbSNP |
1 | g.17028721C>T | CA015737 | SDHB | c.131G>A (p.Cys44Tyr) c.260G>A (p.Cys87Tyr) c.302G>A (p.Cys101Tyr) n.219G>A n.290G>A | ClinVar dbSNP |
1 | g.17028722A>C | CA338275123 | SDHB | c.130T>G (p.Cys44Gly) c.259T>G (p.Cys87Gly) c.301T>G (p.Cys101Gly) n.218T>G n.289T>G | |
1 | g.17028722A>G | CA338275122 | SDHB | c.130T>C (p.Cys44Arg) c.259T>C (p.Cys87Arg) c.301T>C (p.Cys101Arg) n.218T>C n.289T>C | |
1 | g.17028722A>T | CA338275120 | SDHB | c.130T>A (p.Cys44Ser) c.259T>A (p.Cys87Ser) c.301T>A (p.Cys101Ser) n.218T>A n.289T>A | |
1 | g.17028723del | CA2586966133 | SDHB | c.130del (p.Cys44ValfsTer3) c.259del (p.Cys87ValfsTer3) c.301del (p.Cys101ValfsTer3) n.218del n.289del | |
1 | g.17028723A= | CA1140263948 | SDHB | c.129T= (p.Ser43=) c.258T= (p.Ser86=) c.300T= (p.Ser100=) n.217T= n.288T= | |
1 | g.17028723A>C | CA416088103 | SDHB | c.129T>G (p.Ser43=) c.258T>G (p.Ser86=) c.300T>G (p.Ser100=) n.217T>G n.288T>G | |
1 | g.17028723A>G | CA015729 | SDHB | c.129T>C (p.Ser43=) c.258T>C (p.Ser86=) c.300T>C (p.Ser100=) n.217T>C n.288T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028723A>T | CA416088107 | SDHB | c.129T>A (p.Ser43=) c.258T>A (p.Ser86=) c.300T>A (p.Ser100=) n.217T>A n.288T>A | |
1 | g.17028724G>A | CA015720 | SDHB | c.128C>T (p.Ser43Phe) c.257C>T (p.Ser86Phe) c.299C>T (p.Ser100Phe) n.216C>T n.287C>T | ClinVar dbSNP |
1 | g.17028724G>C | CA338275124 | SDHB | c.128C>G (p.Ser43Cys) c.257C>G (p.Ser86Cys) c.299C>G (p.Ser100Cys) n.216C>G n.287C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028724G= | CA1141580615 | SDHB | c.128C= (p.Ser43=) c.257C= (p.Ser86=) c.299C= (p.Ser100=) n.216C= n.287C= | |
1 | g.17028724G>T | CA338275131 | SDHB | c.128C>A (p.Ser43Tyr) c.257C>A (p.Ser86Tyr) c.299C>A (p.Ser100Tyr) n.216C>A n.287C>A | |
1 | g.17028725A>C | CA338275136 | SDHB | c.127T>G (p.Ser43Ala) c.256T>G (p.Ser86Ala) c.298T>G (p.Ser100Ala) n.215T>G n.286T>G | |
1 | g.17028725A>G | CA338275142 | SDHB | c.127T>C (p.Ser43Pro) c.256T>C (p.Ser86Pro) c.298T>C (p.Ser100Pro) n.215T>C n.286T>C | gnomAD v4 |
1 | g.17028725A>T | CA338275144 | SDHB | c.127T>A (p.Ser43Thr) c.256T>A (p.Ser86Thr) c.298T>A (p.Ser100Thr) n.215T>A n.286T>A | |
1 | g.17028726del | CA658655530 | SDHB | c.126del (p.Ser43LeufsTer4) c.255del (p.Ser86LeufsTer4) c.297del (p.Ser100LeufsTer4) n.214del n.285del | gnomAD v4 |
1 | g.17028726G>A | CA416088118 | SDHB | c.126C>T (p.Gly42=) c.255C>T (p.Gly85=) c.297C>T (p.Gly99=) n.214C>T n.285C>T | |
1 | g.17028726G>C | CA416088122 | SDHB | c.126C>G (p.Gly42=) c.255C>G (p.Gly85=) c.297C>G (p.Gly99=) n.214C>G n.285C>G | ClinVar |
1 | g.17028726G>T | CA416088120 | SDHB | c.126C>A (p.Gly42=) c.255C>A (p.Gly85=) c.297C>A (p.Gly99=) n.214C>A n.285C>A | |
1 | g.17028727C>A | CA338275155 | SDHB | c.125G>T (p.Gly42Val) c.254G>T (p.Gly85Val) c.296G>T (p.Gly99Val) n.213G>T n.284G>T | dbSNP |
1 | g.17028727C= | CA1156080536 | SDHB | c.125G= (p.Gly42=) c.254G= (p.Gly85=) c.296G= (p.Gly99=) n.213G= n.284G= | |
1 | g.17028727C>G | CA338275157 | SDHB | c.125G>C (p.Gly42Ala) c.254G>C (p.Gly85Ala) c.296G>C (p.Gly99Ala) n.213G>C n.284G>C | |
1 | g.17028727C>T | CA10581747 | SDHB | c.125G>A (p.Gly42Asp) c.254G>A (p.Gly85Asp) c.296G>A (p.Gly99Asp) n.213G>A n.284G>A | ClinVar dbSNP |
1 | g.17028727_17028746delinsCCACAGATGCCTGAAAGAGA | CA1156080537 | SDHB | c.116-10_125delinsTCTCTTTCAGGCATCTGTGG c.245-10_254delinsTCTCTTTCAGGCATCTGTGG c.287-10_296delinsTCTCTTTCAGGCATCTGTGG n.204-10_213delinsTCTCTTTCAGGCATCTGTGG n.275-10_284delinsTCTCTTTCAGGCATCTGTGG | |
1 | g.17028728C>A | CA338275166 | SDHB | c.124G>T (p.Gly42Cys) c.253G>T (p.Gly85Cys) c.295G>T (p.Gly99Cys) n.212G>T n.283G>T | |
1 | g.17028728C= | CA1156080538 | SDHB | c.124G= (p.Gly42=) c.253G= (p.Gly85=) c.295G= (p.Gly99=) n.212G= n.283G= | |
1 | g.17028728C>G | CA338275177 | SDHB | c.124G>C (p.Gly42Arg) c.253G>C (p.Gly85Arg) c.295G>C (p.Gly99Arg) n.212G>C n.283G>C | |
1 | g.17028728C>T | CA18666849 | SDHB | c.124G>A (p.Gly42Ser) c.253G>A (p.Gly85Ser) c.295G>A (p.Gly99Ser) n.212G>A n.283G>A | ClinVar dbSNP |
1 | g.17028732_17028750del | CA1156080539 | SDHB | c.116-10_124del c.245-10_253del c.287-10_295del n.204-10_212del n.275-10_283del | ClinVar dbSNP |
1 | g.17028729A>C | CA338275187 | SDHB | c.123T>G (p.Cys41Trp) c.252T>G (p.Cys84Trp) c.294T>G (p.Cys98Trp) n.211T>G n.282T>G | |
1 | g.17028729A>G | CA416088133 | SDHB | c.123T>C (p.Cys41=) c.252T>C (p.Cys84=) c.294T>C (p.Cys98=) n.211T>C n.282T>C | COSMIC |
1 | g.17028729A>T | CA338275191 | SDHB | c.123T>A (p.Cys41Ter) c.252T>A (p.Cys84Ter) c.294T>A (p.Cys98Ter) n.211T>A n.282T>A | |
1 | g.17028730C>A | CA338275203 | SDHB | c.122G>T (p.Cys41Phe) c.251G>T (p.Cys84Phe) c.293G>T (p.Cys98Phe) n.210G>T n.281G>T | |
1 | g.17028730C= | CA1156080540 | SDHB | c.122G= (p.Cys41=) c.251G= (p.Cys84=) c.293G= (p.Cys98=) n.210G= n.281G= | |
1 | g.17028730C>G | CA338275194 | SDHB | c.122G>C (p.Cys41Ser) c.251G>C (p.Cys84Ser) c.293G>C (p.Cys98Ser) n.210G>C n.281G>C | |
1 | g.17028730C>T | CA338275198 | SDHB | c.122G>A (p.Cys41Tyr) c.251G>A (p.Cys84Tyr) c.293G>A (p.Cys98Tyr) n.210G>A n.281G>A | ClinVar dbSNP |
1 | g.17028731A>C | CA338275206 | SDHB | c.121T>G (p.Cys41Gly) c.250T>G (p.Cys84Gly) c.292T>G (p.Cys98Gly) n.209T>G n.280T>G | |
1 | g.17028731A>G | CA338275224 | SDHB | c.121T>C (p.Cys41Arg) c.250T>C (p.Cys84Arg) c.292T>C (p.Cys98Arg) n.209T>C n.280T>C | ClinVar |
1 | g.17028731A>T | CA338275228 | SDHB | c.121T>A (p.Cys41Ser) c.250T>A (p.Cys84Ser) c.292T>A (p.Cys98Ser) n.209T>A n.280T>A | |
1 | g.17028732G>A | CA416088138 | SDHB | c.120C>T (p.Ile40=) c.249C>T (p.Ile83=) c.291C>T (p.Ile97=) n.208C>T n.279C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17028732G>C | CA338275241 | SDHB | c.120C>G (p.Ile40Met) c.249C>G (p.Ile83Met) c.291C>G (p.Ile97Met) n.208C>G n.279C>G | dbSNP |
1 | g.17028732G= | CA1156080541 | SDHB | c.120C= (p.Ile40=) c.249C= (p.Ile83=) c.291C= (p.Ile97=) n.208C= n.279C= | |
1 | g.17028732G>T | CA416088135 | SDHB | c.120C>A (p.Ile40=) c.249C>A (p.Ile83=) c.291C>A (p.Ile97=) n.208C>A n.279C>A | |
1 | g.17028733A>C | CA338275246 | SDHB | c.119T>G (p.Ile40Ser) c.248T>G (p.Ile83Ser) c.290T>G (p.Ile97Ser) n.207T>G n.278T>G | |
1 | g.17028733A>G | CA338275249 | SDHB | c.119T>C (p.Ile40Thr) c.248T>C (p.Ile83Thr) c.290T>C (p.Ile97Thr) n.207T>C n.278T>C | |
1 | g.17028733A>T | CA338275263 | SDHB | c.119T>A (p.Ile40Asn) c.248T>A (p.Ile83Asn) c.290T>A (p.Ile97Asn) n.207T>A n.278T>A | |
1 | g.17028734T>A | CA338275267 | SDHB | c.118A>T (p.Ile40Phe) c.247A>T (p.Ile83Phe) c.289A>T (p.Ile97Phe) n.206A>T n.277A>T | ClinVar dbSNP |
1 | g.17028734T>C | CA338275269 | SDHB | c.118A>G (p.Ile40Val) c.247A>G (p.Ile83Val) c.289A>G (p.Ile97Val) n.206A>G n.277A>G | gnomAD v4 |
1 | g.17028734T>G | CA338275270 | SDHB | c.118A>C (p.Ile40Leu) c.247A>C (p.Ile83Leu) c.289A>C (p.Ile97Leu) n.206A>C n.277A>C | |
1 | g.17028734T= | CA1156080542 | SDHB | c.118A= (p.Ile40=) c.247A= (p.Ile83=) c.289A= (p.Ile97=) n.206A= n.277A= | |
1 | g.17028735G>A | CA089581 | SDHB | c.117C>T (p.Gly39=) c.246C>T (p.Gly82=) c.288C>T (p.Gly96=) n.205C>T n.276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17028735G>C | CA416088149 | SDHB | c.117C>G (p.Gly39=) c.246C>G (p.Gly82=) c.288C>G (p.Gly96=) n.205C>G n.276C>G | ClinVar |
1 | g.17028735G= | CA1156080543 | SDHB | c.117C= (p.Gly39=) c.246C= (p.Gly82=) c.288C= (p.Gly96=) n.205C= n.276C= | |
1 | g.17028735G>T | CA416088151 | SDHB | c.117C>A (p.Gly39=) c.246C>A (p.Gly82=) c.288C>A (p.Gly96=) n.205C>A n.276C>A | |
1 | g.17028736C>A | CA338275296 | SDHB | c.116G>T (p.Gly39Val) c.245G>T (p.Gly82Val) c.287G>T (p.Gly96Val) n.204G>T n.275G>T | ClinVar dbSNP |
1 | g.17028736C= | CA1156080544 | SDHB | c.116G= (p.Gly39=) c.245G= (p.Gly82=) c.287G= (p.Gly96=) n.204G= n.275G= | |
1 | g.17028736C>G | CA338275300 | SDHB | c.116G>C (p.Gly39Ala) c.245G>C (p.Gly82Ala) c.287G>C (p.Gly96Ala) n.204G>C n.275G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17028736C>T | CA089580 | SDHB | c.116G>A (p.Gly39Asp) c.245G>A (p.Gly82Asp) c.287G>A (p.Gly96Asp) n.204G>A n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17028737C>A | CA338275304 | SDHB | c.116-1G>T (n.116-1G>T) c.245-1G>T (n.245-1G>T) c.287-1G>T (n.287-1G>T) n.204-1G>T n.275-1G>T | |
1 | g.17028737C= | CA1144228684 | SDHB | c.116-1G= (n.116-1G=) c.245-1G= (n.245-1G=) c.287-1G= (n.287-1G=) n.204-1G= n.275-1G= | |
1 | g.17028737C>G | CA015712 | SDHB | c.116-1G>C (n.116-1G>C) c.245-1G>C (n.245-1G>C) c.287-1G>C (n.287-1G>C) n.204-1G>C n.275-1G>C | ClinVar dbSNP |
1 | g.17028737C>T | CA338275306 | SDHB | c.116-1G>A (n.116-1G>A) c.245-1G>A (n.245-1G>A) c.287-1G>A (n.287-1G>A) n.204-1G>A n.275-1G>A | |
1 | g.17028738_17028739insTCTCT | CA2695457920 | SDHB | c.116-1_116insAGAAG (n.116-1_116insAGAAG) c.245-1_245insAGAAG (n.245-1_245insAGAAG) c.287-1_287insAGAAG (n.287-1_287insAGAAG) n.204-1_204insAGAAG n.275-1_275insAGAAG | dbSNP |
1 | g.17028738T>A | CA338275308 | SDHB | c.116-2A>T (n.116-2A>T) c.245-2A>T (n.245-2A>T) c.287-2A>T (n.287-2A>T) n.204-2A>T n.275-2A>T | |
1 | g.17028738T>C | CA16617023 | SDHB | c.116-2A>G (n.116-2A>G) c.245-2A>G (n.245-2A>G) c.287-2A>G (n.287-2A>G) n.204-2A>G n.275-2A>G | ClinVar dbSNP |
1 | g.17028738T>G | CA338275311 | SDHB | c.116-2A>C (n.116-2A>C) c.245-2A>C (n.245-2A>C) c.287-2A>C (n.287-2A>C) n.204-2A>C n.275-2A>C | |
1 | g.17028738T= | CA1156080545 | SDHB | c.116-2A= (n.116-2A=) c.245-2A= (n.245-2A=) c.287-2A= (n.287-2A=) n.204-2A= n.275-2A= | |
1 | g.17028739G>A | CA2643678089 | SDHB | c.116-3C>T (n.116-3C>T) c.245-3C>T (n.245-3C>T) c.287-3C>T (n.287-3C>T) n.204-3C>T n.275-3C>T | dbSNP gnomAD v4 |
1 | g.17028739G>C | CA645509071 | SDHB | c.116-3C>G (n.116-3C>G) c.245-3C>G (n.245-3C>G) c.287-3C>G (n.287-3C>G) n.204-3C>G n.275-3C>G | ClinVar dbSNP |
1 | g.17028739G= | CA1156080546 | SDHB | c.116-3C= (n.116-3C=) c.245-3C= (n.245-3C=) c.287-3C= (n.287-3C=) n.204-3C= n.275-3C= | |
1 | g.17028741_17028744del | CA658655529 | SDHB | c.116-6_116-3del (n.116-6_116-3del) c.245-6_245-3del (n.245-6_245-3del) c.287-6_287-3del (n.287-6_287-3del) n.204-6_204-3del n.275-6_275-3del | |
1 | g.17028739_17028740insCATGATCTTCGGAAGGTC | CA2695457927 | SDHB | c.116-4_116-3insGACCTTCCGAAGATCATG (n.116-4_116-3insGACCTTCCGAAGATCATG) c.245-4_245-3insGACCTTCCGAAGATCATG (n.245-4_245-3insGACCTTCCGAAGATCATG) c.287-4_287-3insGACCTTCCGAAGATCATG (n.287-4_287-3insGACCTTCCGAAGATCATG) n.204-4_204-3insGACCTTCCGAAGATCATG n.275-4_275-3insGACCTTCCGAAGATCATG | dbSNP |
1 | g.17028740A= | CA1143415683 | SDHB | c.116-4T= (n.116-4T=) c.245-4T= (n.245-4T=) c.287-4T= (n.287-4T=) n.204-4T= n.275-4T= | |
1 | g.17028740A>G | CA089577 | SDHB | c.116-4T>C (n.116-4T>C) c.245-4T>C (n.245-4T>C) c.287-4T>C (n.287-4T>C) n.204-4T>C n.275-4T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17028742del | CA2573130524 | SDHB | c.116-4del (n.116-4del) c.245-4del (n.245-4del) c.287-4del (n.287-4del) n.204-4del n.275-4del | ClinVar dbSNP |