Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17024062C>A | CA338271414 | SDHB | c.382G>T (p.Glu128Ter) c.511G>T (p.Glu171Ter) c.553G>T (p.Glu185Ter) n.487G>T | ClinVar dbSNP |
1 | g.17024062C= | CA1156078666 | SDHB | c.382G= (p.Glu128=) c.511G= (p.Glu171=) c.553G= (p.Glu185=) n.487G= | |
1 | g.17024062C>G | CA338271423 | SDHB | c.382G>C (p.Glu128Gln) c.511G>C (p.Glu171Gln) c.553G>C (p.Glu185Gln) n.487G>C | ClinVar dbSNP |
1 | g.17024062C>T | CA18663233 | SDHB | c.382G>A (p.Glu128Lys) c.511G>A (p.Glu171Lys) c.553G>A (p.Glu185Lys) n.487G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17024063G>A | CA089669 | SDHB | c.381C>T (p.Tyr127=) c.510C>T (p.Tyr170=) c.552C>T (p.Tyr184=) n.486C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17024063G>C | CA338271432 | SDHB | c.381C>G (p.Tyr127Ter) c.510C>G (p.Tyr170Ter) c.552C>G (p.Tyr184Ter) n.486C>G | |
1 | g.17024063G= | CA1143525358 | SDHB | c.381C= (p.Tyr127=) c.510C= (p.Tyr170=) c.552C= (p.Tyr184=) n.486C= | |
1 | g.17024063G>T | CA338271429 | SDHB | c.381C>A (p.Tyr127Ter) c.510C>A (p.Tyr170Ter) c.552C>A (p.Tyr184Ter) n.486C>A | |
1 | g.17024063_17024065delinsCTGTAT | CA2586964051 | SDHB | c.379_381delinsATACAG (p.Tyr127delinsIleGln) c.508_510delinsATACAG (p.Tyr170delinsIleGln) c.550_552delinsATACAG (p.Tyr184delinsIleGln) n.484_486delinsATACAG | |
1 | g.17024064T>A | CA338271433 | SDHB | c.380A>T (p.Tyr127Phe) c.509A>T (p.Tyr170Phe) c.551A>T (p.Tyr184Phe) n.485A>T | |
1 | g.17024064T>C | CA338271435 | SDHB | c.380A>G (p.Tyr127Cys) c.509A>G (p.Tyr170Cys) c.551A>G (p.Tyr184Cys) n.485A>G | ClinVar dbSNP |
1 | g.17024064T>G | CA338271437 | SDHB | c.380A>C (p.Tyr127Ser) c.509A>C (p.Tyr170Ser) c.551A>C (p.Tyr184Ser) n.485A>C | |
1 | g.17024065A= | CA1156078667 | SDHB | c.379T= (p.Tyr127=) c.508T= (p.Tyr170=) c.550T= (p.Tyr184=) n.484T= | |
1 | g.17024065A>C | CA338271438 | SDHB | c.379T>G (p.Tyr127Asp) c.508T>G (p.Tyr170Asp) c.550T>G (p.Tyr184Asp) n.484T>G | |
1 | g.17024065A>G | CA338271439 | SDHB | c.379T>C (p.Tyr127His) c.508T>C (p.Tyr170His) c.550T>C (p.Tyr184His) n.484T>C | ClinVar dbSNP |
1 | g.17024065A>T | CA338271440 | SDHB | c.379T>A (p.Tyr127Asn) c.508T>A (p.Tyr170Asn) c.550T>A (p.Tyr184Asn) n.484T>A | |
1 | g.17024065_17024071del | CA658655543 | SDHB | c.373_379del (p.Gly125ThrfsTer?) c.502_508del (p.Gly168ThrfsTer?) c.544_550del (p.Gly182ThrfsTer?) n.478_484del | |
1 | g.17024066G>A | CA416083972 | SDHB | c.378C>T (p.Leu126=) c.507C>T (p.Leu169=) c.549C>T (p.Leu183=) n.483C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17024066G>C | CA416083977 | SDHB | c.378C>G (p.Leu126=) c.507C>G (p.Leu169=) c.549C>G (p.Leu183=) n.483C>G | gnomAD v4 COSMIC |
1 | g.17024066G= | CA1156078668 | SDHB | c.378C= (p.Leu126=) c.507C= (p.Leu169=) c.549C= (p.Leu183=) n.483C= | |
1 | g.17024066G>T | CA416083975 | SDHB | c.378C>A (p.Leu126=) c.507C>A (p.Leu169=) c.549C>A (p.Leu183=) n.483C>A | |
1 | g.17024067A>C | CA338271442 | SDHB | c.377T>G (p.Leu126Arg) c.506T>G (p.Leu169Arg) c.548T>G (p.Leu183Arg) n.482T>G | |
1 | g.17024067A>G | CA338271444 | SDHB | c.377T>C (p.Leu126Pro) c.506T>C (p.Leu169Pro) c.548T>C (p.Leu183Pro) n.482T>C | |
1 | g.17024067A>T | CA338271445 | SDHB | c.377T>A (p.Leu126His) c.506T>A (p.Leu169His) c.548T>A (p.Leu183His) n.482T>A | |
1 | g.17024068G>A | CA338271446 | SDHB | c.376C>T (p.Leu126Phe) c.505C>T (p.Leu169Phe) c.547C>T (p.Leu183Phe) n.481C>T | ClinVar dbSNP gnomAD v4 |
1 | g.17024068G>C | CA338271447 | SDHB | c.376C>G (p.Leu126Val) c.505C>G (p.Leu169Val) c.547C>G (p.Leu183Val) n.481C>G | |
1 | g.17024068G= | CA1156078669 | SDHB | c.376C= (p.Leu126=) c.505C= (p.Leu169=) c.547C= (p.Leu183=) n.481C= | |
1 | g.17024068G>T | CA338271449 | SDHB | c.376C>A (p.Leu126Ile) c.505C>A (p.Leu169Ile) c.547C>A (p.Leu183Ile) n.481C>A | |
1 | g.17024069C>A | CA416083995 | SDHB | c.375G>T (p.Gly125=) c.504G>T (p.Gly168=) c.546G>T (p.Gly182=) n.480G>T | dbSNP |
1 | g.17024069C>G | CA416083998 | SDHB | c.375G>C (p.Gly125=) c.504G>C (p.Gly168=) c.546G>C (p.Gly182=) n.480G>C | |
1 | g.17024069C>T | CA416083993 | SDHB | c.375G>A (p.Gly125=) c.504G>A (p.Gly168=) c.546G>A (p.Gly182=) n.480G>A | ClinVar gnomAD v4 |
1 | g.17024071del | CA658655544 | SDHB | c.375del (p.Leu126SerfsTer?) c.504del (p.Leu169SerfsTer?) c.546del (p.Leu183SerfsTer?) n.480del | |
1 | g.17024070C>A | CA338271452 | SDHB | c.374G>T (p.Gly125Val) c.503G>T (p.Gly168Val) c.545G>T (p.Gly182Val) n.479G>T | |
1 | g.17024070C= | CA1156078670 | SDHB | c.374G= (p.Gly125=) c.503G= (p.Gly168=) c.545G= (p.Gly182=) n.479G= | |
1 | g.17024070C>G | CA338271457 | SDHB | c.374G>C (p.Gly125Ala) c.503G>C (p.Gly168Ala) c.545G>C (p.Gly182Ala) n.479G>C | ClinVar dbSNP gnomAD v4 |
1 | g.17024070C>T | CA338271454 | SDHB | c.374G>A (p.Gly125Glu) c.503G>A (p.Gly168Glu) c.545G>A (p.Gly182Glu) n.479G>A | |
1 | g.17024071C>A | CA338271459 | SDHB | c.373G>T (p.Gly125Trp) c.502G>T (p.Gly168Trp) c.544G>T (p.Gly182Trp) n.478G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17024071C= | CA1143514970 | SDHB | c.373G= (p.Gly125=) c.502G= (p.Gly168=) c.544G= (p.Gly182=) n.478G= | |
1 | g.17024071C>G | CA338271465 | SDHB | c.373G>C (p.Gly125Arg) c.502G>C (p.Gly168Arg) c.544G>C (p.Gly182Arg) n.478G>C | |
1 | g.17024071C>T | CA089667 | SDHB | c.373G>A (p.Gly125Arg) c.502G>A (p.Gly168Arg) c.544G>A (p.Gly182Arg) n.478G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17024071_17024076del | CA2643676989 | SDHB | c.370-2_373del c.499-2_502del c.541-2_544del n.475-2_478del | gnomAD v4 |
1 | g.17024072G>A | CA089666 | SDHB | c.372C>T (p.Asp124=) c.501C>T (p.Asp167=) c.543C>T (p.Asp181=) n.477C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17024072G>C | CA338271472 | SDHB | c.372C>G (p.Asp124Glu) c.501C>G (p.Asp167Glu) c.543C>G (p.Asp181Glu) n.477C>G | |
1 | g.17024072G= | CA1143375935 | SDHB | c.372C= (p.Asp124=) c.501C= (p.Asp167=) c.543C= (p.Asp181=) n.477C= | |
1 | g.17024072G>T | CA338271475 | SDHB | c.372C>A (p.Asp124Glu) c.501C>A (p.Asp167Glu) c.543C>A (p.Asp181Glu) n.477C>A | ClinVar gnomAD v4 |
1 | g.17024074_17024078del | CA2695202245 | SDHB | c.370-2_372del c.499-2_501del c.541-2_543del n.475-2_477del | |
1 | g.17024073T>A | CA18663251 | SDHB | c.371A>T (p.Asp124Val) c.500A>T (p.Asp167Val) c.542A>T (p.Asp181Val) n.476A>T | dbSNP |
1 | g.17024073T>C | CA338271481 | SDHB | c.371A>G (p.Asp124Gly) c.500A>G (p.Asp167Gly) c.542A>G (p.Asp181Gly) n.476A>G | gnomAD v4 |
1 | g.17024073T>G | CA338271484 | SDHB | c.371A>C (p.Asp124Ala) c.500A>C (p.Asp167Ala) c.542A>C (p.Asp181Ala) n.476A>C | |
1 | g.17024073T= | CA1156078671 | SDHB | c.371A= (p.Asp124=) c.500A= (p.Asp167=) c.542A= (p.Asp181=) n.476A= |