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 |
|---|---|---|---|---|---|
| 8 | g.64616119C>A | CA371335789 | CYP7B1 | c.422G>T (p.Cys141Phe) c.488G>T (p.Cys163Phe) | |
| 8 | g.64616119C>G | CA371335790 | CYP7B1 | c.422G>C (p.Cys141Ser) c.488G>C (p.Cys163Ser) | |
| 8 | g.64616119C>T | CA371335791 | CYP7B1 | c.422G>A (p.Cys141Tyr) c.488G>A (p.Cys163Tyr) | |
| 8 | g.64616120A>C | CA371335792 | CYP7B1 | c.421T>G (p.Cys141Gly) c.487T>G (p.Cys163Gly) | |
| 8 | g.64616120A>G | CA371335793 | CYP7B1 | c.421T>C (p.Cys141Arg) c.487T>C (p.Cys163Arg) | |
| 8 | g.64616120A>T | CA371335794 | CYP7B1 | c.421T>A (p.Cys141Ser) c.487T>A (p.Cys163Ser) | |
| 8 | g.64616120dup | CA2573143286 | CYP7B1 | c.421dup (p.Cys141LeufsTer26) c.487dup (p.Cys163LeufsTer26) | ClinVar dbSNP |
| 8 | g.64616121G>A | CA461420436 | CYP7B1 | c.420C>T (p.Leu140=) c.486C>T (p.Leu162=) | |
| 8 | g.64616121G>C | CA461420437 | CYP7B1 | c.420C>G (p.Leu140=) c.486C>G (p.Leu162=) | |
| 8 | g.64616121G>T | CA461420438 | CYP7B1 | c.420C>A (p.Leu140=) c.486C>A (p.Leu162=) | |
| 8 | g.64616122A>C | CA371335795 | CYP7B1 | c.419T>G (p.Leu140Arg) c.485T>G (p.Leu162Arg) | |
| 8 | g.64616122A>G | CA371335797 | CYP7B1 | c.419T>C (p.Leu140Pro) c.485T>C (p.Leu162Pro) | |
| 8 | g.64616122A>T | CA371335796 | CYP7B1 | c.419T>A (p.Leu140His) c.485T>A (p.Leu162His) | |
| 8 | g.64616123G>A | CA371335798 | CYP7B1 | c.418C>T (p.Leu140Phe) c.484C>T (p.Leu162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64616123G>C | CA371335799 | CYP7B1 | c.418C>G (p.Leu140Val) c.484C>G (p.Leu162Val) | |
| 8 | g.64616123G= | CA1789664465 | CYP7B1 | c.418C= (p.Leu140=) c.484C= (p.Leu162=) | |
| 8 | g.64616123G>T | CA371335800 | CYP7B1 | c.418C>A (p.Leu140Ile) c.484C>A (p.Leu162Ile) | |
| 8 | g.64616124del | CA2740095057 | CYP7B1 | c.418del (p.Leu140SerfsTer18) c.484del (p.Leu162SerfsTer18) | ClinVar |
| 8 | g.64616124G>A | CA461421859 | CYP7B1 | c.417C>T (p.His139=) c.483C>T (p.His161=) | |
| 8 | g.64616124G>C | CA371335801 | CYP7B1 | c.417C>G (p.His139Gln) c.483C>G (p.His161Gln) | gnomAD v4 |
| 8 | g.64616124G>T | CA371335802 | CYP7B1 | c.417C>A (p.His139Gln) c.483C>A (p.His161Gln) | |
| 8 | g.64616125T>A | CA371335803 | CYP7B1 | c.416A>T (p.His139Leu) c.482A>T (p.His161Leu) | ClinVar |
| 8 | g.64616125T>C | CA371335804 | CYP7B1 | c.416A>G (p.His139Arg) c.482A>G (p.His161Arg) | |
| 8 | g.64616125T>G | CA371335805 | CYP7B1 | c.416A>C (p.His139Pro) c.482A>C (p.His161Pro) | |
| 8 | g.64616126G>A | CA371335806 | CYP7B1 | c.415C>T (p.His139Tyr) c.481C>T (p.His161Tyr) | |
| 8 | g.64616126G>C | CA371335807 | CYP7B1 | c.415C>G (p.His139Asp) c.481C>G (p.His161Asp) | |
| 8 | g.64616126G>T | CA371335808 | CYP7B1 | c.415C>A (p.His139Asn) c.481C>A (p.His161Asn) | |
| 8 | g.64616127A>C | CA461421875 | CYP7B1 | c.414T>G (p.Leu138=) c.480T>G (p.Leu160=) | |
| 8 | g.64616127A>G | CA461421877 | CYP7B1 | c.414T>C (p.Leu138=) c.480T>C (p.Leu160=) | |
| 8 | g.64616127A>T | CA461421878 | CYP7B1 | c.414T>A (p.Leu138=) c.480T>A (p.Leu160=) | |
| 8 | g.64616128A>C | CA371335809 | CYP7B1 | c.413T>G (p.Leu138Arg) c.479T>G (p.Leu160Arg) | |
| 8 | g.64616128A>G | CA371335811 | CYP7B1 | c.413T>C (p.Leu138Pro) c.479T>C (p.Leu160Pro) | COSMIC |
| 8 | g.64616128A>T | CA371335810 | CYP7B1 | c.413T>A (p.Leu138His) c.479T>A (p.Leu160His) | |
| 8 | g.64616129G>A | CA371335812 | CYP7B1 | c.412C>T (p.Leu138Phe) c.478C>T (p.Leu160Phe) | gnomAD v4 |
| 8 | g.64616129G>C | CA371335813 | CYP7B1 | c.412C>G (p.Leu138Val) c.478C>G (p.Leu160Val) | |
| 8 | g.64616129G>T | CA371335814 | CYP7B1 | c.412C>A (p.Leu138Ile) c.478C>A (p.Leu160Ile) | gnomAD v4 |
| 8 | g.64616130C>A | CA371335815 | CYP7B1 | c.411G>T (p.Glu137Asp) c.477G>T (p.Glu159Asp) | |
| 8 | g.64616130C= | CA1789664466 | CYP7B1 | c.411G= (p.Glu137=) c.477G= (p.Glu159=) | |
| 8 | g.64616130C>G | CA371335816 | CYP7B1 | c.411G>C (p.Glu137Asp) c.477G>C (p.Glu159Asp) | |
| 8 | g.64616130C>T | CA461421891 | CYP7B1 | c.411G>A (p.Glu137=) c.477G>A (p.Glu159=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64616131T>A | CA371335817 | CYP7B1 | c.410A>T (p.Glu137Val) c.476A>T (p.Glu159Val) | |
| 8 | g.64616131T>C | CA178389760 | CYP7B1 | c.410A>G (p.Glu137Gly) c.476A>G (p.Glu159Gly) | dbSNP gnomAD v4 |
| 8 | g.64616131T>G | CA371335818 | CYP7B1 | c.410A>C (p.Glu137Ala) c.476A>C (p.Glu159Ala) | |
| 8 | g.64616131T= | CA1789664467 | CYP7B1 | c.410A= (p.Glu137=) c.476A= (p.Glu159=) | |
| 8 | g.64616132C>A | CA371335819 | CYP7B1 | c.409G>T (p.Glu137Ter) c.475G>T (p.Glu159Ter) | |
| 8 | g.64616132C= | CA1789664468 | CYP7B1 | c.409G= (p.Glu137=) c.475G= (p.Glu159=) | |
| 8 | g.64616132C>G | CA371335821 | CYP7B1 | c.409G>C (p.Glu137Gln) c.475G>C (p.Glu159Gln) | |
| 8 | g.64616132C>T | CA371335820 | CYP7B1 | c.409G>A (p.Glu137Lys) c.475G>A (p.Glu159Lys) | dbSNP gnomAD v2 |
| 8 | g.64616133A>C | CA371335822 | CYP7B1 | c.408T>G (p.Asp136Glu) c.474T>G (p.Asp158Glu) | |
| 8 | g.64616133A>G | CA461421903 | CYP7B1 | c.408T>C (p.Asp136=) c.474T>C (p.Asp158=) |