UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17024040C>A | CA338271227 | SDHB | c.404G>T (p.Cys135Phe) c.533G>T (p.Cys178Phe) c.575G>T (p.Cys192Phe) n.509G>T | |
| 1 | g.17024040C= | CA1144228682 | SDHB | c.404G= (p.Cys135=) c.533G= (p.Cys178=) c.575G= (p.Cys192=) n.509G= | |
| 1 | g.17024040C>G | CA015991 | SDHB | c.404G>C (p.Cys135Ser) c.533G>C (p.Cys178Ser) c.575G>C (p.Cys192Ser) n.509G>C | ClinVar dbSNP |
| 1 | g.17024040C>T | CA015982 | SDHB | c.404G>A (p.Cys135Tyr) c.533G>A (p.Cys178Tyr) c.575G>A (p.Cys192Tyr) n.509G>A | ClinVar dbSNP |
| 1 | g.17024041A= | CA1156078654 | SDHB | c.403T= (p.Cys135=) c.532T= (p.Cys178=) c.574T= (p.Cys192=) n.508T= | |
| 1 | g.17024041A>C | CA338271235 | SDHB | c.403T>G (p.Cys135Gly) c.532T>G (p.Cys178Gly) c.574T>G (p.Cys192Gly) n.508T>G | |
| 1 | g.17024041A>G | CA015973 | SDHB | c.403T>C (p.Cys135Arg) c.532T>C (p.Cys178Arg) c.574T>C (p.Cys192Arg) n.508T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.17024041A>T | CA338271243 | SDHB | c.403T>A (p.Cys135Ser) c.532T>A (p.Cys178Ser) c.574T>A (p.Cys192Ser) n.508T>A | |
| 1 | g.17024042G>A | CA416083774 | SDHB | c.402C>T (p.Cys134=) c.531C>T (p.Cys177=) c.573C>T (p.Cys191=) n.507C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.17024042G>C | CA338271246 | SDHB | c.402C>G (p.Cys134Trp) c.531C>G (p.Cys177Trp) c.573C>G (p.Cys191Trp) n.507C>G | |
| 1 | g.17024042G>T | CA338271248 | SDHB | c.402C>A (p.Cys134Ter) c.531C>A (p.Cys177Ter) c.573C>A (p.Cys191Ter) n.507C>A | |
| 1 | g.17024043del | CA2586964047 | SDHB | c.401del (p.Cys134SerfsTer29) c.530del (p.Cys177SerfsTer29) c.572del (p.Cys191SerfsTer29) n.506del c.530del (p.Cys177SerfsTer?) | |
| 1 | g.17024043C>A | CA338271252 | SDHB | c.401G>T (p.Cys134Phe) c.530G>T (p.Cys177Phe) c.572G>T (p.Cys191Phe) n.506G>T | |
| 1 | g.17024043C= | CA1156078655 | SDHB | c.401G= (p.Cys134=) c.530G= (p.Cys177=) c.572G= (p.Cys191=) n.506G= | |
| 1 | g.17024043C>G | CA338271259 | SDHB | c.401G>C (p.Cys134Ser) c.530G>C (p.Cys177Ser) c.572G>C (p.Cys191Ser) n.506G>C | |
| 1 | g.17024043C>T | CA338271262 | SDHB | c.401G>A (p.Cys134Tyr) c.530G>A (p.Cys177Tyr) c.572G>A (p.Cys191Tyr) n.506G>A | ClinVar dbSNP |
| 1 | g.17024044A>C | CA338271265 | SDHB | c.400T>G (p.Cys134Gly) c.529T>G (p.Cys177Gly) c.571T>G (p.Cys191Gly) n.505T>G | |
| 1 | g.17024044A>G | CA338271268 | SDHB | c.400T>C (p.Cys134Arg) c.529T>C (p.Cys177Arg) c.571T>C (p.Cys191Arg) n.505T>C | |
| 1 | g.17024044A>T | CA338271269 | SDHB | c.400T>A (p.Cys134Ser) c.529T>A (p.Cys177Ser) c.571T>A (p.Cys191Ser) n.505T>A | |
| 1 | g.17024045G>A | CA416083793 | SDHB | c.399C>T (p.Ala133=) c.528C>T (p.Ala176=) c.570C>T (p.Ala190=) n.504C>T | gnomAD v4 |
| 1 | g.17024045G>C | CA416083796 | SDHB | c.399C>G (p.Ala133=) c.528C>G (p.Ala176=) c.570C>G (p.Ala190=) n.504C>G | ClinVar dbSNP |
| 1 | g.17024045G>T | CA416083801 | SDHB | c.399C>A (p.Ala133=) c.528C>A (p.Ala176=) c.570C>A (p.Ala190=) n.504C>A | |
| 1 | g.17024046G>A | CA18663206 | SDHB | c.398C>T (p.Ala133Val) c.527C>T (p.Ala176Val) c.569C>T (p.Ala190Val) n.503C>T | ClinVar dbSNP |
| 1 | g.17024046G>C | CA338271280 | SDHB | c.398C>G (p.Ala133Gly) c.527C>G (p.Ala176Gly) c.569C>G (p.Ala190Gly) n.503C>G | dbSNP |
| 1 | g.17024046G= | CA1143513070 | SDHB | c.398C= (p.Ala133=) c.527C= (p.Ala176=) c.569C= (p.Ala190=) n.503C= | |
| 1 | g.17024046G>T | CA338271289 | SDHB | c.398C>A (p.Ala133Asp) c.527C>A (p.Ala176Asp) c.569C>A (p.Ala190Asp) n.503C>A | ClinVar |
| 1 | g.17024047C>A | CA338271297 | SDHB | c.397G>T (p.Ala133Ser) c.526G>T (p.Ala176Ser) c.568G>T (p.Ala190Ser) n.502G>T | ClinVar |
| 1 | g.17024047C= | CA1143375003 | SDHB | c.397G= (p.Ala133=) c.526G= (p.Ala176=) c.568G= (p.Ala190=) n.502G= | |
| 1 | g.17024047C>G | CA338271299 | SDHB | c.397G>C (p.Ala133Pro) c.526G>C (p.Ala176Pro) c.568G>C (p.Ala190Pro) n.502G>C | |
| 1 | g.17024047C>T | CA089672 | SDHB | c.397G>A (p.Ala133Thr) c.526G>A (p.Ala176Thr) c.568G>A (p.Ala190Thr) n.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17024049_17024050del | CA2586964048 | SDHB | c.396_397del (p.Ala133LeufsTer3) c.525_526del (p.Ala176LeufsTer3) c.567_568del (p.Ala190LeufsTer3) n.501_502del | gnomAD v4 |
| 1 | g.17024048A>C | CA338271308 | SDHB | c.396T>G (p.Cys132Trp) c.525T>G (p.Cys175Trp) c.567T>G (p.Cys189Trp) n.501T>G | ClinVar dbSNP |
| 1 | g.17024048A>G | CA416083814 | SDHB | c.396T>C (p.Cys132=) c.525T>C (p.Cys175=) c.567T>C (p.Cys189=) n.501T>C | dbSNP |
| 1 | g.17024048A>T | CA338271309 | SDHB | c.396T>A (p.Cys132Ter) c.525T>A (p.Cys175Ter) c.567T>A (p.Cys189Ter) n.501T>A | |
| 1 | g.17024049C>A | CA10577673 | SDHB | c.395G>T (p.Cys132Phe) c.524G>T (p.Cys175Phe) c.566G>T (p.Cys189Phe) n.500G>T | ClinVar dbSNP |
| 1 | g.17024049C= | CA1156078656 | SDHB | c.395G= (p.Cys132=) c.524G= (p.Cys175=) c.566G= (p.Cys189=) n.500G= | |
| 1 | g.17024049C>G | CA338271310 | SDHB | c.395G>C (p.Cys132Ser) c.524G>C (p.Cys175Ser) c.566G>C (p.Cys189Ser) n.500G>C | |
| 1 | g.17024049C>T | CA338271313 | SDHB | c.395G>A (p.Cys132Tyr) c.524G>A (p.Cys175Tyr) c.566G>A (p.Cys189Tyr) n.500G>A | ClinVar |
| 1 | g.17024050A= | CA1156078657 | SDHB | c.394T= (p.Cys132=) c.523T= (p.Cys175=) c.565T= (p.Cys189=) n.499T= | |
| 1 | g.17024050A>C | CA338271317 | SDHB | c.394T>G (p.Cys132Gly) c.523T>G (p.Cys175Gly) c.565T>G (p.Cys189Gly) n.499T>G | |
| 1 | g.17024050A>G | CA338271320 | SDHB | c.394T>C (p.Cys132Arg) c.523T>C (p.Cys175Arg) c.565T>C (p.Cys189Arg) n.499T>C | ClinVar dbSNP |
| 1 | g.17024050A>T | CA338271324 | SDHB | c.394T>A (p.Cys132Ser) c.523T>A (p.Cys175Ser) c.565T>A (p.Cys189Ser) n.499T>A | |
| 1 | g.17024050dup | CA658655546 | SDHB | c.394dup (p.Cys132LeufsTer5) c.523dup (p.Cys175LeufsTer5) c.565dup (p.Cys189LeufsTer5) n.499dup | |
| 1 | g.17024051G>A | CA089671 | SDHB | c.393C>T (p.Leu131=) c.522C>T (p.Leu174=) c.564C>T (p.Leu188=) n.498C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17024051G>C | CA416083844 | SDHB | c.393C>G (p.Leu131=) c.522C>G (p.Leu174=) c.564C>G (p.Leu188=) n.498C>G | dbSNP |
| 1 | g.17024051G= | CA1156078658 | SDHB | c.393C= (p.Leu131=) c.522C= (p.Leu174=) c.564C= (p.Leu188=) n.498C= | |
| 1 | g.17024051G>T | CA416083842 | SDHB | c.393C>A (p.Leu131=) c.522C>A (p.Leu174=) c.564C>A (p.Leu188=) n.498C>A | |
| 1 | g.17024052A>C | CA338271340 | SDHB | c.392T>G (p.Leu131Arg) c.521T>G (p.Leu174Arg) c.563T>G (p.Leu188Arg) n.497T>G | |
| 1 | g.17024052A>G | CA338271345 | SDHB | c.392T>C (p.Leu131Pro) c.521T>C (p.Leu174Pro) c.563T>C (p.Leu188Pro) n.497T>C | |
| 1 | g.17024052A>T | CA338271343 | SDHB | c.392T>A (p.Leu131His) c.521T>A (p.Leu174His) c.563T>A (p.Leu188His) n.497T>A |