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 |
|---|---|---|---|---|---|
| 10 | g.87713167A>C | CA377486647 | PAPSS2 | c.238A>C (p.Asn80His) n.260A>C n.281A>C | |
| 10 | g.87713167A>G | CA377486648 | PAPSS2 | c.238A>G (p.Asn80Asp) n.260A>G n.281A>G | |
| 10 | g.87713167A>T | CA377486650 | PAPSS2 | c.238A>T (p.Asn80Tyr) n.260A>T n.281A>T | |
| 10 | g.87713168A>C | CA377486652 | PAPSS2 | c.239A>C (p.Asn80Thr) n.261A>C n.282A>C | |
| 10 | g.87713168A>G | CA377486653 | PAPSS2 | c.239A>G (p.Asn80Ser) n.261A>G n.282A>G | |
| 10 | g.87713168A>T | CA377486656 | PAPSS2 | c.239A>T (p.Asn80Ile) n.261A>T n.282A>T | |
| 10 | g.87713169T>A | CA377486657 | PAPSS2 | c.240T>A (p.Asn80Lys) n.262T>A n.283T>A | |
| 10 | g.87713169T>C | CA470971158 | PAPSS2 | c.240T>C (p.Asn80=) n.262T>C n.283T>C | |
| 10 | g.87713169T>G | CA377486658 | PAPSS2 | c.240T>G (p.Asn80Lys) n.262T>G n.283T>G | |
| 10 | g.87713170G>A | CA377486661 | PAPSS2 | c.241G>A (p.Val81Ile) n.263G>A n.284G>A | |
| 10 | g.87713170G>C | CA377486663 | PAPSS2 | c.241G>C (p.Val81Leu) n.263G>C n.284G>C | gnomAD v4 |
| 10 | g.87713170G>T | CA377486665 | PAPSS2 | c.241G>T (p.Val81Phe) n.263G>T n.284G>T | |
| 10 | g.87713171T>A | CA377486670 | PAPSS2 | c.242T>A (p.Val81Asp) n.264T>A n.285T>A | |
| 10 | g.87713171T>C | CA211258453 | PAPSS2 | c.242T>C (p.Val81Ala) n.264T>C n.285T>C | dbSNP gnomAD v4 |
| 10 | g.87713171T>G | CA377486667 | PAPSS2 | c.242T>G (p.Val81Gly) n.264T>G n.285T>G | |
| 10 | g.87713171T= | CA1926074899 | PAPSS2 | c.242T= (p.Val81=) n.264T= n.285T= | |
| 10 | g.87713172C>A | CA470971159 | PAPSS2 | c.243C>A (p.Val81=) n.265C>A n.286C>A | |
| 10 | g.87713172C>G | CA470971160 | PAPSS2 | c.243C>G (p.Val81=) n.265C>G n.286C>G | COSMIC |
| 10 | g.87713172C>T | CA470971161 | PAPSS2 | c.243C>T (p.Val81=) n.265C>T n.286C>T | |
| 10 | g.87713173C>A | CA377486671 | PAPSS2 | c.244C>A (p.Arg82Ser) n.266C>A n.287C>A | |
| 10 | g.87713173C= | CA1926074900 | PAPSS2 | c.244C= (p.Arg82=) n.266C= n.287C= | |
| 10 | g.87713173C>G | CA377486673 | PAPSS2 | c.244C>G (p.Arg82Gly) n.266C>G n.287C>G | |
| 10 | g.87713173C>T | CA5589385 | PAPSS2 | c.244C>T (p.Arg82Cys) n.266C>T n.287C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87713174G>A | CA5589386 | PAPSS2 | c.245G>A (p.Arg82His) n.267G>A n.288G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87713174G>C | CA377486676 | PAPSS2 | c.245G>C (p.Arg82Pro) n.267G>C n.288G>C | |
| 10 | g.87713174G= | CA1926074901 | PAPSS2 | c.245G= (p.Arg82=) n.267G= n.288G= | |
| 10 | g.87713174G>T | CA377486678 | PAPSS2 | c.245G>T (p.Arg82Leu) n.267G>T n.288G>T | |
| 10 | g.87713175T>A | CA470971162 | PAPSS2 | c.246T>A (p.Arg82=) n.268T>A n.289T>A | |
| 10 | g.87713175T>C | CA470971163 | PAPSS2 | c.246T>C (p.Arg82=) n.268T>C n.289T>C | |
| 10 | g.87713175T>G | CA470971164 | PAPSS2 | c.246T>G (p.Arg82=) n.268T>G n.289T>G | |
| 10 | g.87713176C>A | CA377486684 | PAPSS2 | c.247C>A (p.His83Asn) n.269C>A n.290C>A | |
| 10 | g.87713176C>G | CA377486681 | PAPSS2 | c.247C>G (p.His83Asp) n.269C>G n.290C>G | |
| 10 | g.87713176C>T | CA377486682 | PAPSS2 | c.247C>T (p.His83Tyr) n.269C>T n.290C>T | |
| 10 | g.87713177A= | CA1926074902 | PAPSS2 | c.248A= (p.His83=) n.270A= n.291A= | |
| 10 | g.87713177A>C | CA377486686 | PAPSS2 | c.248A>C (p.His83Pro) n.270A>C n.291A>C | |
| 10 | g.87713177A>G | CA377486688 | PAPSS2 | c.248A>G (p.His83Arg) n.270A>G n.291A>G | dbSNP |
| 10 | g.87713177A>T | CA377486690 | PAPSS2 | c.248A>T (p.His83Leu) n.270A>T n.291A>T | |
| 10 | g.87713178T>A | CA377486692 | PAPSS2 | c.249T>A (p.His83Gln) n.271T>A n.292T>A | |
| 10 | g.87713178T>C | CA470971165 | PAPSS2 | c.249T>C (p.His83=) n.271T>C n.292T>C | |
| 10 | g.87713178T>G | CA377486694 | PAPSS2 | c.249T>G (p.His83Gln) n.271T>G n.292T>G | dbSNP |
| 10 | g.87713178T= | CA1926074903 | PAPSS2 | c.249T= (p.His83=) n.271T= n.292T= | |
| 10 | g.87713179G>A | CA377486700 | PAPSS2 | c.250G>A (p.Gly84Ser) n.272G>A n.293G>A | |
| 10 | g.87713179G>C | CA377486696 | PAPSS2 | c.250G>C (p.Gly84Arg) n.272G>C n.293G>C | |
| 10 | g.87713179G>T | CA377486698 | PAPSS2 | c.250G>T (p.Gly84Cys) n.272G>T n.293G>T | |
| 10 | g.87713180G>A | CA377486701 | PAPSS2 | c.251G>A (p.Gly84Asp) n.273G>A n.294G>A | |
| 10 | g.87713180G>C | CA377486702 | PAPSS2 | c.251G>C (p.Gly84Ala) n.273G>C n.294G>C | |
| 10 | g.87713180G>T | CA377486703 | PAPSS2 | c.251G>T (p.Gly84Val) n.273G>T n.294G>T | |
| 10 | g.87713181C>A | CA470971166 | PAPSS2 | c.252C>A (p.Gly84=) n.274C>A n.295C>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87713181C= | CA1926074904 | PAPSS2 | c.252C= (p.Gly84=) n.274C= n.295C= | |
| 10 | g.87713181C>G | CA470971167 | PAPSS2 | c.252C>G (p.Gly84=) n.274C>G n.295C>G |