| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17024009_17024013dup | CA645369142 | SDHB | c.434_438dup (p.Asp147ThrfsTer18) c.563_567dup (p.Asp190ThrfsTer18) c.605_609dup (p.Asp204ThrfsTer18) n.539_543dup c.563_567dup (p.Asp190ThrfsTer?) | ClinVar dbSNP |
| 1 | g.17024009G>A | CA089677 | SDHB | c.435C>T (p.Asn145=) c.564C>T (p.Asn188=) c.606C>T (p.Asn202=) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17024009G>C | CA338271024 | SDHB | c.435C>G (p.Asn145Lys) c.564C>G (p.Asn188Lys) c.606C>G (p.Asn202Lys) n.540C>G | ClinVar dbSNP |
| 1 | g.17024009G= | CA1143365492 | SDHB | c.435C= (p.Asn145=) c.564C= (p.Asn188=) c.606C= (p.Asn202=) n.540C= | |
| 1 | g.17024009G>T | CA338271026 | SDHB | c.435C>A (p.Asn145Lys) c.564C>A (p.Asn188Lys) c.606C>A (p.Asn202Lys) n.540C>A | |
| 1 | g.17024010T>A | CA338271029 | SDHB | c.434A>T (p.Asn145Ile) c.563A>T (p.Asn188Ile) c.605A>T (p.Asn202Ile) n.539A>T | |
| 1 | g.17024010T>C | CA338271033 | SDHB | c.434A>G (p.Asn145Ser) c.563A>G (p.Asn188Ser) c.605A>G (p.Asn202Ser) n.539A>G | |
| 1 | g.17024010T>G | CA338271034 | SDHB | c.434A>C (p.Asn145Thr) c.563A>C (p.Asn188Thr) c.605A>C (p.Asn202Thr) n.539A>C | |
| 1 | g.17024011dup | CA645369143 | SDHB | c.434dup (p.Asn145LysfsTer20) c.563dup (p.Asn188LysfsTer20) c.605dup (p.Asn202LysfsTer20) n.539dup c.563dup (p.Asn188LysfsTer?) | ClinVar dbSNP |
| 1 | g.17024010_17024020delinsTTCCACCAGTA | CA1156078636 | SDHB | c.424_434delinsTACTGGTGGAA (p.Tyr142=) c.553_563delinsTACTGGTGGAA (p.Tyr185=) c.595_605delinsTACTGGTGGAA (p.Tyr199=) n.529_539delinsTACTGGTGGAA | |
| 1 | g.17024011T>A | CA338271035 | SDHB | c.433A>T (p.Asn145Tyr) c.562A>T (p.Asn188Tyr) c.604A>T (p.Asn202Tyr) n.538A>T | |
| 1 | g.17024011T>C | CA338271043 | SDHB | c.433A>G (p.Asn145Asp) c.562A>G (p.Asn188Asp) c.604A>G (p.Asn202Asp) n.538A>G | |
| 1 | g.17024011T>G | CA338271037 | SDHB | c.433A>C (p.Asn145His) c.562A>C (p.Asn188His) c.604A>C (p.Asn202His) n.538A>C | |
| 1 | g.17024011_17024020delinsCC | CA645369144 | SDHB | c.424_433delinsGG (p.Tyr142GlyfsTer20) c.553_562delinsGG (p.Tyr185GlyfsTer20) c.595_604delinsGG (p.Tyr199GlyfsTer20) n.529_538delinsGG c.553_562delinsGG (p.Tyr185GlyfsTer?) | ClinVar dbSNP |
| 1 | g.17024012C>A | CA338271045 | SDHB | c.432G>T (p.Trp144Cys) c.561G>T (p.Trp187Cys) c.603G>T (p.Trp201Cys) n.537G>T | |
| 1 | g.17024012C= | CA1156078637 | SDHB | c.432G= (p.Trp144=) c.561G= (p.Trp187=) c.603G= (p.Trp201=) n.537G= | |
| 1 | g.17024012C>G | CA338271048 | SDHB | c.432G>C (p.Trp144Cys) c.561G>C (p.Trp187Cys) c.603G>C (p.Trp201Cys) n.537G>C | ClinVar dbSNP |
| 1 | g.17024012C>T | CA338271046 | SDHB | c.432G>A (p.Trp144Ter) c.561G>A (p.Trp187Ter) c.603G>A (p.Trp201Ter) n.537G>A | ClinVar dbSNP |
| 1 | g.17024012_17024017delinsTCACCT | CA658655549 | SDHB | c.427_432delinsAGGTGA (p.Trp143ArgfsTer2) c.556_561delinsAGGTGA (p.Trp186ArgfsTer2) c.598_603delinsAGGTGA (p.Trp200ArgfsTer2) n.532_537delinsAGGTGA | |
| 1 | g.17024013C>A | CA338271050 | SDHB | c.431G>T (p.Trp144Leu) c.560G>T (p.Trp187Leu) c.602G>T (p.Trp201Leu) n.536G>T | gnomAD v4 |
| 1 | g.17024013C= | CA1156078638 | SDHB | c.431G= (p.Trp144=) c.560G= (p.Trp187=) c.602G= (p.Trp201=) n.536G= | |
| 1 | g.17024013C>G | CA338271053 | SDHB | c.431G>C (p.Trp144Ser) c.560G>C (p.Trp187Ser) c.602G>C (p.Trp201Ser) n.536G>C | |
| 1 | g.17024013C>T | CA16609931 | SDHB | c.431G>A (p.Trp144Ter) c.560G>A (p.Trp187Ter) c.602G>A (p.Trp201Ter) n.536G>A | ClinVar dbSNP gnomAD v2 |
| 1 | g.17024014A>C | CA338271056 | SDHB | c.430T>G (p.Trp144Gly) c.559T>G (p.Trp187Gly) c.601T>G (p.Trp201Gly) n.535T>G | |
| 1 | g.17024014A>G | CA338271058 | SDHB | c.430T>C (p.Trp144Arg) c.559T>C (p.Trp187Arg) c.601T>C (p.Trp201Arg) n.535T>C | ClinVar dbSNP |
| 1 | g.17024014A>T | CA338271060 | SDHB | c.430T>A (p.Trp144Arg) c.559T>A (p.Trp187Arg) c.601T>A (p.Trp201Arg) n.535T>A | gnomAD v4 |
| 1 | g.17024014_17024020del | CA658655548 | SDHB | c.424_430del (p.Tyr142GlyfsTer19) c.553_559del (p.Tyr185GlyfsTer19) c.595_601del (p.Tyr199GlyfsTer19) n.529_535del c.553_559del (p.Tyr185GlyfsTer?) | |
| 1 | g.17024015C>A | CA016022 | SDHB | c.429G>T (p.Trp143Cys) c.558G>T (p.Trp186Cys) c.600G>T (p.Trp200Cys) n.534G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17024015C= | CA1144228681 | SDHB | c.429G= (p.Trp143=) c.558G= (p.Trp186=) c.600G= (p.Trp200=) n.534G= | |
| 1 | g.17024015C>G | CA338271061 | SDHB | c.429G>C (p.Trp143Cys) c.558G>C (p.Trp186Cys) c.600G>C (p.Trp200Cys) n.534G>C | |
| 1 | g.17024015C>T | CA016011 | SDHB | c.429G>A (p.Trp143Ter) c.558G>A (p.Trp186Ter) c.600G>A (p.Trp200Ter) n.534G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.17024015_17024026dup | CA2586964032 | SDHB | c.418_429dup (p.Trp143_Trp144insProSerTyrTrp) c.547_558dup (p.Trp186_Trp187insProSerTyrTrp) c.589_600dup (p.Trp200_Trp201insProSerTyrTrp) n.523_534dup | |
| 1 | g.17024016C>A | CA338271063 | SDHB | c.428G>T (p.Trp143Leu) c.557G>T (p.Trp186Leu) c.599G>T (p.Trp200Leu) n.533G>T | |
| 1 | g.17024016C>G | CA338271065 | SDHB | c.428G>C (p.Trp143Ser) c.557G>C (p.Trp186Ser) c.599G>C (p.Trp200Ser) n.533G>C | |
| 1 | g.17024016C>T | CA338271069 | SDHB | c.428G>A (p.Trp143Ter) c.557G>A (p.Trp186Ter) c.599G>A (p.Trp200Ter) n.533G>A | |
| 1 | g.17024017del | CA2573130773 | SDHB | c.427del (p.Trp143GlyfsTer20) c.556del (p.Trp186GlyfsTer20) c.598del (p.Trp200GlyfsTer20) n.532del c.556del (p.Trp186GlyfsTer?) | ClinVar dbSNP |
| 1 | g.17024017A= | CA1156078639 | SDHB | c.427T= (p.Trp143=) c.556T= (p.Trp186=) c.598T= (p.Trp200=) n.532T= | |
| 1 | g.17024017A>C | CA338271072 | SDHB | c.427T>G (p.Trp143Gly) c.556T>G (p.Trp186Gly) c.598T>G (p.Trp200Gly) n.532T>G | ClinVar |
| 1 | g.17024017A>G | CA338271075 | SDHB | c.427T>C (p.Trp143Arg) c.556T>C (p.Trp186Arg) c.598T>C (p.Trp200Arg) n.532T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.17024017A>T | CA338271076 | SDHB | c.427T>A (p.Trp143Arg) c.556T>A (p.Trp186Arg) c.598T>A (p.Trp200Arg) n.532T>A | |
| 1 | g.17024017dup | CA2573130774 | SDHB | c.427dup (p.Trp143LeufsTer22) c.556dup (p.Trp186LeufsTer22) c.598dup (p.Trp200LeufsTer22) n.532dup c.556dup (p.Trp186LeufsTer?) | ClinVar dbSNP |
| 1 | g.17024019_17024021del | CA2586964034 | SDHB | c.425_427del (p.Tyr142del) c.554_556del (p.Tyr185del) c.596_598del (p.Tyr199del) n.530_532del | |
| 1 | g.17024018G>A | CA416083565 | SDHB | c.426C>T (p.Tyr142=) c.555C>T (p.Tyr185=) c.597C>T (p.Tyr199=) n.531C>T | ClinVar dbSNP |
| 1 | g.17024018G>C | CA338271081 | SDHB | c.426C>G (p.Tyr142Ter) c.555C>G (p.Tyr185Ter) c.597C>G (p.Tyr199Ter) n.531C>G | ClinVar |
| 1 | g.17024018G= | CA1156078640 | SDHB | c.426C= (p.Tyr142=) c.555C= (p.Tyr185=) c.597C= (p.Tyr199=) n.531C= | |
| 1 | g.17024018G>T | CA338271079 | SDHB | c.426C>A (p.Tyr142Ter) c.555C>A (p.Tyr185Ter) c.597C>A (p.Tyr199Ter) n.531C>A | |
| 1 | g.17024019T>A | CA338271085 | SDHB | c.425A>T (p.Tyr142Phe) c.554A>T (p.Tyr185Phe) c.596A>T (p.Tyr199Phe) n.530A>T | |
| 1 | g.17024019T>C | CA338271086 | SDHB | c.425A>G (p.Tyr142Cys) c.554A>G (p.Tyr185Cys) c.596A>G (p.Tyr199Cys) n.530A>G | ClinVar dbSNP |
| 1 | g.17024019T>G | CA338271088 | SDHB | c.425A>C (p.Tyr142Ser) c.554A>C (p.Tyr185Ser) c.596A>C (p.Tyr199Ser) n.530A>C | |
| 1 | g.17024019T= | CA1156078641 | SDHB | c.425A= (p.Tyr142=) c.554A= (p.Tyr185=) c.596A= (p.Tyr199=) n.530A= |