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 |
|---|---|---|---|---|---|
| 12 | g.112450316A>C | CA386777333 | PTPN11 | c.138-2A>C (n.138-2A>C) c.138-5A>C (n.138-5A>C) | |
| 12 | g.112450316A>G | CA386777335 | PTPN11 | c.138-2A>G (n.138-2A>G) c.138-5A>G (n.138-5A>G) | ClinVar |
| 12 | g.112450316A>T | CA386777338 | PTPN11 | c.138-2A>T (n.138-2A>T) c.138-5A>T (n.138-5A>T) | dbSNP |
| 12 | g.112450317G>A | CA386777339 | PTPN11 | c.138-1G>A (n.138-1G>A) c.138-4G>A (n.138-4G>A) | dbSNP |
| 12 | g.112450317G>C | CA386777340 | PTPN11 | c.138-1G>C (n.138-1G>C) c.138-4G>C (n.138-4G>C) | dbSNP |
| 12 | g.112450317G>T | CA386777341 | PTPN11 | c.138-1G>T (n.138-1G>T) c.138-4G>T (n.138-4G>T) | dbSNP |
| 12 | g.112450318A>C | CA386777342 | PTPN11 | c.138A>C (p.Arg46Ser) c.138-3A>C (n.138-3A>C) | |
| 12 | g.112450318A>G | CA481881654 | PTPN11 | c.138A>G (p.Arg46=) c.138-3A>G (n.138-3A>G) | |
| 12 | g.112450318A>T | CA386777343 | PTPN11 | c.138A>T (p.Arg46Ser) c.138-3A>T (n.138-3A>T) | |
| 12 | g.112450319A>C | CA481881656 | PTPN11 | c.139A>C (p.Arg47=) c.138-2A>C (n.138-2A>C) | |
| 12 | g.112450319A>G | CA386777347 | PTPN11 | c.139A>G (p.Arg47Gly) c.138-2A>G (n.138-2A>G) | |
| 12 | g.112450319A>T | CA386777352 | PTPN11 | c.139A>T (p.Arg47Ter) c.138-2A>T (n.138-2A>T) | dbSNP |
| 12 | g.112450320G>A | CA386777357 | PTPN11 | c.140G>A (p.Arg47Lys) c.138-1G>A (n.138-1G>A) | dbSNP |
| 12 | g.112450320G>C | CA386777361 | PTPN11 | c.140G>C (p.Arg47Thr) c.138-1G>C (n.138-1G>C) | dbSNP |
| 12 | g.112450320G>T | CA386777360 | PTPN11 | c.140G>T (p.Arg47Ile) c.138-1G>T (n.138-1G>T) | |
| 12 | g.112450321A>C | CA386777362 | PTPN11 | c.141A>C (p.Arg47Ser) c.138A>C (p.Arg46Ser) | |
| 12 | g.112450321A>G | CA481881658 | PTPN11 | c.141A>G (p.Arg47=) c.138A>G (p.Arg46=) | |
| 12 | g.112450321A>T | CA386777363 | PTPN11 | c.141A>T (p.Arg47Ser) c.138A>T (p.Arg46Ser) | |
| 12 | g.112450322A= | CA2063739882 | PTPN11 | c.142A= (p.Asn48=) c.139A= (p.Asn47=) | |
| 12 | g.112450322A>C | CA386777364 | PTPN11 | c.142A>C (p.Asn48His) c.139A>C (p.Asn47His) | dbSNP |
| 12 | g.112450322A>G | CA386777365 | PTPN11 | c.142A>G (p.Asn48Asp) c.139A>G (p.Asn47Asp) | |
| 12 | g.112450322A>T | CA386777366 | PTPN11 | c.142A>T (p.Asn48Tyr) c.139A>T (p.Asn47Tyr) | |
| 12 | g.112450323A= | CA2063739883 | PTPN11 | c.143A= (p.Asn48=) c.140A= (p.Asn47=) | |
| 12 | g.112450323A>C | CA386777369 | PTPN11 | c.143A>C (p.Asn48Thr) c.140A>C (p.Asn47Thr) | |
| 12 | g.112450323A>G | CA6798527 | PTPN11 | c.143A>G (p.Asn48Ser) c.140A>G (p.Asn47Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450323A>T | CA386777374 | PTPN11 | c.143A>T (p.Asn48Ile) c.140A>T (p.Asn47Ile) | |
| 12 | g.112450324T>A | CA386777376 | PTPN11 | c.144T>A (p.Asn48Lys) c.141T>A (p.Asn47Lys) | |
| 12 | g.112450324T>C | CA481881659 | PTPN11 | c.144T>C (p.Asn48=) c.141T>C (p.Asn47=) | |
| 12 | g.112450324T>G | CA386777379 | PTPN11 | c.144T>G (p.Asn48Lys) c.141T>G (p.Asn47Lys) | |
| 12 | g.112450325G>A | CA386777384 | PTPN11 | c.145G>A (p.Gly49Arg) c.142G>A (p.Gly48Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450325G>C | CA386777382 | PTPN11 | c.145G>C (p.Gly49Arg) c.142G>C (p.Gly48Arg) | dbSNP gnomAD v4 |
| 12 | g.112450325G>T | CA386777380 | PTPN11 | c.145G>T (p.Gly49Ter) c.142G>T (p.Gly48Ter) | dbSNP |
| 12 | g.112450326G>A | CA386777388 | PTPN11 | c.146G>A (p.Gly49Glu) c.143G>A (p.Gly48Glu) | dbSNP |
| 12 | g.112450326G>C | CA386777390 | PTPN11 | c.146G>C (p.Gly49Ala) c.143G>C (p.Gly48Ala) | dbSNP |
| 12 | g.112450326G>T | CA386777393 | PTPN11 | c.146G>T (p.Gly49Val) c.143G>T (p.Gly48Val) | dbSNP |
| 12 | g.112450327A>C | CA481881661 | PTPN11 | c.147A>C (p.Gly49=) c.144A>C (p.Gly48=) | |
| 12 | g.112450327A>G | CA481881662 | PTPN11 | c.147A>G (p.Gly49=) c.144A>G (p.Gly48=) | dbSNP gnomAD v4 |
| 12 | g.112450327A>T | CA481881663 | PTPN11 | c.147A>T (p.Gly49=) c.144A>T (p.Gly48=) | dbSNP |
| 12 | g.112450328G>A | CA161779 | PTPN11 | c.148G>A (p.Ala50Thr) c.145G>A (p.Ala49Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450328G>C | CA386777397 | PTPN11 | c.148G>C (p.Ala50Pro) c.145G>C (p.Ala49Pro) | dbSNP gnomAD v4 |
| 12 | g.112450328G= | CA2063739886 | PTPN11 | c.148G= (p.Ala50=) c.145G= (p.Ala49=) | |
| 12 | g.112450328G>T | CA386777400 | PTPN11 | c.148G>T (p.Ala50Ser) c.145G>T (p.Ala49Ser) | |
| 12 | g.112450329C>A | CA386777404 | PTPN11 | c.149C>A (p.Ala50Asp) c.146C>A (p.Ala49Asp) | |
| 12 | g.112450329C>G | CA386777405 | PTPN11 | c.149C>G (p.Ala50Gly) c.146C>G (p.Ala49Gly) | dbSNP |
| 12 | g.112450329C>T | CA386777406 | PTPN11 | c.149C>T (p.Ala50Val) c.146C>T (p.Ala49Val) | dbSNP |
| 12 | g.112450330T>A | CA481881666 | PTPN11 | c.150T>A (p.Ala50=) c.147T>A (p.Ala49=) | |
| 12 | g.112450330T>C | CA481881667 | PTPN11 | c.150T>C (p.Ala50=) c.147T>C (p.Ala49=) | |
| 12 | g.112450330T>G | CA481881668 | PTPN11 | c.150T>G (p.Ala50=) c.147T>G (p.Ala49=) | |
| 12 | g.112450331G>A | CA386777407 | PTPN11 | c.151G>A (p.Val51Ile) c.148G>A (p.Val50Ile) | dbSNP gnomAD v4 |
| 12 | g.112450331G>C | CA386777408 | PTPN11 | c.151G>C (p.Val51Leu) c.148G>C (p.Val50Leu) | dbSNP |