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.17027853del | CA2586964064 | SDHB | c.266del (p.Phe89SerfsTer12) c.395del (p.Phe132SerfsTer12) c.437del (p.Phe146SerfsTer12) n.354del n.371del | |
1 | g.17027853A= | CA1156080204 | SDHB | c.265T= (p.Phe89=) c.394T= (p.Phe132=) c.436T= (p.Phe146=) n.353T= n.370T= | |
1 | g.17027853A>C | CA338273404 | SDHB | c.265T>G (p.Phe89Val) c.394T>G (p.Phe132Val) c.436T>G (p.Phe146Val) n.353T>G n.370T>G | ClinVar dbSNP gnomAD v4 |
1 | g.17027853A>G | CA338273408 | SDHB | c.265T>C (p.Phe89Leu) c.394T>C (p.Phe132Leu) c.436T>C (p.Phe146Leu) n.353T>C n.370T>C | |
1 | g.17027853A>T | CA338273422 | SDHB | c.265T>A (p.Phe89Ile) c.394T>A (p.Phe132Ile) c.436T>A (p.Phe146Ile) n.353T>A n.370T>A | |
1 | g.17027854del | CA658655538 | SDHB | c.264del (p.Phe89SerfsTer12) c.393del (p.Phe132SerfsTer12) c.435del (p.Phe146SerfsTer12) n.352del n.369del | |
1 | g.17027854G>A | CA416086353 | SDHB | c.264C>T (p.Asn88=) c.393C>T (p.Asn131=) c.435C>T (p.Asn145=) n.352C>T n.369C>T | ClinVar dbSNP |
1 | g.17027854G>C | CA338273426 | SDHB | c.264C>G (p.Asn88Lys) c.393C>G (p.Asn131Lys) c.435C>G (p.Asn145Lys) n.352C>G n.369C>G | |
1 | g.17027854G>T | CA338273425 | SDHB | c.264C>A (p.Asn88Lys) c.393C>A (p.Asn131Lys) c.435C>A (p.Asn145Lys) n.352C>A n.369C>A | |
1 | g.17027855T>A | CA18666011 | SDHB | c.263A>T (p.Asn88Ile) c.392A>T (p.Asn131Ile) c.434A>T (p.Asn145Ile) n.351A>T n.368A>T | dbSNP gnomAD v4 |
1 | g.17027855T>C | CA338273454 | SDHB | c.263A>G (p.Asn88Ser) c.392A>G (p.Asn131Ser) c.434A>G (p.Asn145Ser) n.351A>G n.368A>G | ClinVar gnomAD v4 |
1 | g.17027855T>G | CA338273452 | SDHB | c.263A>C (p.Asn88Thr) c.392A>C (p.Asn131Thr) c.434A>C (p.Asn145Thr) n.351A>C n.368A>C | |
1 | g.17027855T= | CA1156080205 | SDHB | c.263A= (p.Asn88=) c.392A= (p.Asn131=) c.434A= (p.Asn145=) n.351A= n.368A= | |
1 | g.17027856T>A | CA338273455 | SDHB | c.262A>T (p.Asn88Tyr) c.391A>T (p.Asn131Tyr) c.433A>T (p.Asn145Tyr) n.350A>T n.367A>T | |
1 | g.17027856T>C | CA338273461 | SDHB | c.262A>G (p.Asn88Asp) c.391A>G (p.Asn131Asp) c.433A>G (p.Asn145Asp) n.350A>G n.367A>G | |
1 | g.17027856T>G | CA338273456 | SDHB | c.262A>C (p.Asn88His) c.391A>C (p.Asn131His) c.433A>C (p.Asn145His) n.350A>C n.367A>C | |
1 | g.17027857G>A | CA416086378 | SDHB | c.261C>T (p.Ser87=) c.390C>T (p.Ser130=) c.432C>T (p.Ser144=) n.349C>T n.366C>T | gnomAD v4 |
1 | g.17027857G>C | CA338273466 | SDHB | c.261C>G (p.Ser87Arg) c.390C>G (p.Ser130Arg) c.432C>G (p.Ser144Arg) n.349C>G n.366C>G | gnomAD v4 |
1 | g.17027857G>T | CA338273469 | SDHB | c.261C>A (p.Ser87Arg) c.390C>A (p.Ser130Arg) c.432C>A (p.Ser144Arg) n.349C>A n.366C>A | gnomAD v4 COSMIC |
1 | g.17027858C>A | CA338273480 | SDHB | c.260G>T (p.Ser87Ile) c.389G>T (p.Ser130Ile) c.431G>T (p.Ser144Ile) n.348G>T n.365G>T | |
1 | g.17027858C>G | CA338273484 | SDHB | c.260G>C (p.Ser87Thr) c.389G>C (p.Ser130Thr) c.431G>C (p.Ser144Thr) n.348G>C n.365G>C | |
1 | g.17027858C>T | CA338273488 | SDHB | c.260G>A (p.Ser87Asn) c.389G>A (p.Ser130Asn) c.431G>A (p.Ser144Asn) n.348G>A n.365G>A | gnomAD v4 |
1 | g.17027859T>A | CA338273491 | SDHB | c.259A>T (p.Ser87Cys) c.388A>T (p.Ser130Cys) c.430A>T (p.Ser144Cys) n.347A>T n.364A>T | |
1 | g.17027859T>C | CA338273495 | SDHB | c.259A>G (p.Ser87Gly) c.388A>G (p.Ser130Gly) c.430A>G (p.Ser144Gly) n.347A>G n.364A>G | |
1 | g.17027859T>G | CA338273496 | SDHB | c.259A>C (p.Ser87Arg) c.388A>C (p.Ser130Arg) c.430A>C (p.Ser144Arg) n.347A>C n.364A>C | |
1 | g.17027860C>A | CA338273497 | SDHB | c.258G>T (p.Leu86Phe) c.387G>T (p.Leu129Phe) c.429G>T (p.Leu143Phe) n.346G>T n.363G>T | gnomAD v4 |
1 | g.17027860C>G | CA338273498 | SDHB | c.258G>C (p.Leu86Phe) c.387G>C (p.Leu129Phe) c.429G>C (p.Leu143Phe) n.346G>C n.363G>C | |
1 | g.17027860C>T | CA416086399 | SDHB | c.258G>A (p.Leu86=) c.387G>A (p.Leu129=) c.429G>A (p.Leu143=) n.346G>A n.363G>A | |
1 | g.17027861A>C | CA338273499 | SDHB | c.257T>G (p.Leu86Trp) c.386T>G (p.Leu129Trp) c.428T>G (p.Leu143Trp) n.345T>G n.362T>G | |
1 | g.17027861A>G | CA338273500 | SDHB | c.257T>C (p.Leu86Ser) c.386T>C (p.Leu129Ser) c.428T>C (p.Leu143Ser) n.345T>C n.362T>C | |
1 | g.17027861A>T | CA338273501 | SDHB | c.257T>A (p.Leu86Ter) c.386T>A (p.Leu129Ter) c.428T>A (p.Leu143Ter) n.345T>A n.362T>A | |
1 | g.17027863del | CA2574235758 | SDHB | c.257del (p.Leu86Ter) c.386del (p.Leu129Ter) c.428del (p.Leu143Ter) n.345del n.362del | |
1 | g.17027862A= | CA1156080206 | SDHB | c.256T= (p.Leu86=) c.385T= (p.Leu129=) c.427T= (p.Leu143=) n.344T= n.361T= | |
1 | g.17027862A>C | CA338273502 | SDHB | c.256T>G (p.Leu86Val) c.385T>G (p.Leu129Val) c.427T>G (p.Leu143Val) n.344T>G n.361T>G | |
1 | g.17027862A>G | CA416086418 | SDHB | c.256T>C (p.Leu86=) c.385T>C (p.Leu129=) c.427T>C (p.Leu143=) n.344T>C n.361T>C | |
1 | g.17027862A>T | CA338273503 | SDHB | c.256T>A (p.Leu86Met) c.385T>A (p.Leu129Met) c.427T>A (p.Leu143Met) n.344T>A n.361T>A | ClinVar dbSNP gnomAD v4 |
1 | g.17027862_17027872delinsG | CA2586964065 | SDHB | c.253-7_256delinsC c.382-7_385delinsC c.424-7_427delinsC n.341-7_344delinsC n.358-7_361delinsC | |
1 | g.17027863A>C | CA338273504 | SDHB | c.255T>G (p.Asp85Glu) c.384T>G (p.Asp128Glu) c.426T>G (p.Asp142Glu) n.343T>G n.360T>G | COSMIC |
1 | g.17027863A>G | CA416086424 | SDHB | c.255T>C (p.Asp85=) c.384T>C (p.Asp128=) c.426T>C (p.Asp142=) n.343T>C n.360T>C | ClinVar |
1 | g.17027863A>T | CA338273505 | SDHB | c.255T>A (p.Asp85Glu) c.384T>A (p.Asp128Glu) c.426T>A (p.Asp142Glu) n.343T>A n.360T>A | |
1 | g.17027864T>A | CA089626 | SDHB | c.254A>T (p.Asp85Val) c.383A>T (p.Asp128Val) c.425A>T (p.Asp142Val) n.342A>T n.359A>T | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.17027864T>C | CA338273506 | SDHB | c.254A>G (p.Asp85Gly) c.383A>G (p.Asp128Gly) c.425A>G (p.Asp142Gly) n.342A>G n.359A>G | ClinVar dbSNP gnomAD v4 |
1 | g.17027864T>G | CA338273509 | SDHB | c.254A>C (p.Asp85Ala) c.383A>C (p.Asp128Ala) c.425A>C (p.Asp142Ala) n.342A>C n.359A>C | |
1 | g.17027864T= | CA1156080207 | SDHB | c.254A= (p.Asp85=) c.383A= (p.Asp128=) c.425A= (p.Asp142=) n.342A= n.359A= | |
1 | g.17027865C>A | CA338273513 | SDHB | c.253G>T (p.Asp85Tyr) c.382G>T (p.Asp128Tyr) c.424G>T (p.Asp142Tyr) n.341G>T n.358G>T | gnomAD v4 |
1 | g.17027865C= | CA1156080208 | SDHB | c.253G= (p.Asp85=) c.382G= (p.Asp128=) c.424G= (p.Asp142=) n.341G= n.358G= | |
1 | g.17027865C>G | CA338273517 | SDHB | c.253G>C (p.Asp85His) c.382G>C (p.Asp128His) c.424G>C (p.Asp142His) n.341G>C n.358G>C | gnomAD v4 |
1 | g.17027865C>T | CA338273520 | SDHB | c.253G>A (p.Asp85Asn) c.382G>A (p.Asp128Asn) c.424G>A (p.Asp142Asn) n.341G>A n.358G>A | ClinVar dbSNP |
1 | g.17027866C>A | CA338273529 | SDHB | c.253-1G>T (n.253-1G>T) c.382-1G>T (n.382-1G>T) c.424-1G>T (n.424-1G>T) n.341-1G>T n.358-1G>T | gnomAD v4 |