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.112450309C>G | CA2727228541 | PTPN11 | c.138-9C>G (n.138-9C>G) c.138-12C>G (n.138-12C>G) | dbSNP |
| 12 | g.112450309C>T | CA2621021539 | PTPN11 | c.138-9C>T (n.138-9C>T) c.138-12C>T (n.138-12C>T) | dbSNP gnomAD v4 |
| 12 | g.112450310T>C | CA2727058500 | PTPN11 | c.138-8T>C (n.138-8T>C) c.138-11T>C (n.138-11T>C) | dbSNP |
| 12 | g.112450310T>G | CA6798525 | PTPN11 | c.138-8T>G (n.138-8T>G) c.138-11T>G (n.138-11T>G) | dbSNP ExAC gnomAD v2 |
| 12 | g.112450310T= | CA2063739862 | PTPN11 | c.138-8T= (n.138-8T=) c.138-11T= (n.138-11T=) | |
| 12 | g.112450311A= | CA2063739868 | PTPN11 | c.138-7A= (n.138-7A=) c.138-10A= (n.138-10A=) | |
| 12 | g.112450311A>G | CA6798526 | PTPN11 | c.138-7A>G (n.138-7A>G) c.138-10A>G (n.138-10A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450312T>A | CA2727228577 | PTPN11 | c.138-6T>A (n.138-6T>A) c.138-9T>A (n.138-9T>A) | dbSNP |
| 12 | g.112450312T>C | CA2727228553 | PTPN11 | c.138-6T>C (n.138-6T>C) c.138-9T>C (n.138-9T>C) | dbSNP |
| 12 | g.112450315del | CA2575298796 | PTPN11 | c.138-3del (n.138-3del) c.138-6del (n.138-6del) | |
| 12 | g.112450313T>C | CA2727228634 | PTPN11 | c.138-5T>C (n.138-5T>C) c.138-8T>C (n.138-8T>C) | dbSNP |
| 12 | g.112450314T>C | CA2727065320 | PTPN11 | c.138-4T>C (n.138-4T>C) c.138-7T>C (n.138-7T>C) | dbSNP |
| 12 | g.112450314T>G | CA16606066 | PTPN11 | c.138-4T>G (n.138-4T>G) c.138-7T>G (n.138-7T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450314T= | CA2063739873 | PTPN11 | c.138-4T= (n.138-4T=) c.138-7T= (n.138-7T=) | |
| 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 |
| 12 | g.112450331G>T | CA386777411 | PTPN11 | c.151G>T (p.Val51Phe) c.148G>T (p.Val50Phe) | |
| 12 | g.112450332T>A | CA386777418 | PTPN11 | c.152T>A (p.Val51Asp) c.149T>A (p.Val50Asp) | |
| 12 | g.112450332T>C | CA386777420 | PTPN11 | c.152T>C (p.Val51Ala) c.149T>C (p.Val50Ala) | dbSNP |
| 12 | g.112450332T>G | CA386777416 | PTPN11 | c.152T>G (p.Val51Gly) c.149T>G (p.Val50Gly) | |
| 12 | g.112450333C>A | CA481881671 | PTPN11 | c.153C>A (p.Val51=) c.150C>A (p.Val50=) | gnomAD v4 |
| 12 | g.112450333C>G | CA481881673 | PTPN11 | c.153C>G (p.Val51=) c.150C>G (p.Val50=) | dbSNP |
| 12 | g.112450333C>T | CA481881672 | PTPN11 | c.153C>T (p.Val51=) c.150C>T (p.Val50=) | dbSNP |
| 12 | g.112450334A>C | CA386777423 | PTPN11 | c.154A>C (p.Thr52Pro) c.151A>C (p.Thr51Pro) | |
| 12 | g.112450334A>G | CA386777426 | PTPN11 | c.154A>G (p.Thr52Ala) c.151A>G (p.Thr51Ala) | COSMIC |
| 12 | g.112450334A>T | CA386777434 | PTPN11 | c.154A>T (p.Thr52Ser) c.151A>T (p.Thr51Ser) | |
| 12 | g.112450335C>A | CA386777437 | PTPN11 | c.155C>A (p.Thr52Asn) c.152C>A (p.Thr51Asn) | dbSNP |
| 12 | g.112450335C= | CA2063739894 | PTPN11 | c.155C= (p.Thr52=) c.152C= (p.Thr51=) | |
| 12 | g.112450335C>G | CA386777440 | PTPN11 | c.155C>G (p.Thr52Ser) c.152C>G (p.Thr51Ser) | dbSNP COSMIC |
| 12 | g.112450335C>T | CA261555 | PTPN11 | c.155C>T (p.Thr52Ile) c.152C>T (p.Thr51Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450336C>A | CA481881677 | PTPN11 | c.156C>A (p.Thr52=) c.153C>A (p.Thr51=) | dbSNP |
| 12 | g.112450336C= | CA2063739899 | PTPN11 | c.156C= (p.Thr52=) c.153C= (p.Thr51=) | |
| 12 | g.112450336C>G | CA481881678 | PTPN11 | c.156C>G (p.Thr52=) c.153C>G (p.Thr51=) | dbSNP |
| 12 | g.112450336C>T | CA6798528 | PTPN11 | c.156C>T (p.Thr52=) c.153C>T (p.Thr51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450337C>A | CA386777445 | PTPN11 | c.157C>A (p.His53Asn) c.154C>A (p.His52Asn) | dbSNP |
| 12 | g.112450337C>G | CA386777449 | PTPN11 | c.157C>G (p.His53Asp) c.154C>G (p.His52Asp) | dbSNP |
| 12 | g.112450337C>T | CA386777450 | PTPN11 | c.157C>T (p.His53Tyr) c.154C>T (p.His52Tyr) | dbSNP gnomAD v4 |
| 12 | g.112450338A>C | CA386777452 | PTPN11 | c.158A>C (p.His53Pro) c.155A>C (p.His52Pro) | |
| 12 | g.112450338A>G | CA386777455 | PTPN11 | c.158A>G (p.His53Arg) c.155A>G (p.His52Arg) | |
| 12 | g.112450338A>T | CA386777458 | PTPN11 | c.158A>T (p.His53Leu) c.155A>T (p.His52Leu) | dbSNP |
| 12 | g.112450339C>A | CA386777465 | PTPN11 | c.159C>A (p.His53Gln) c.156C>A (p.His52Gln) | |
| 12 | g.112450339C= | CA2063739905 | PTPN11 | c.159C= (p.His53=) c.156C= (p.His52=) | |
| 12 | g.112450339C>G | CA386777463 | PTPN11 | c.159C>G (p.His53Gln) c.156C>G (p.His52Gln) | dbSNP |
| 12 | g.112450339C>T | CA6798529 | PTPN11 | c.159C>T (p.His53=) c.156C>T (p.His52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450340A>C | CA386777467 | PTPN11 | c.160A>C (p.Ile54Leu) c.157A>C (p.Ile53Leu) | |
| 12 | g.112450340A>G | CA386777469 | PTPN11 | c.160A>G (p.Ile54Val) c.157A>G (p.Ile53Val) | |
| 12 | g.112450340A>T | CA386777471 | PTPN11 | c.160A>T (p.Ile54Phe) c.157A>T (p.Ile53Phe) | dbSNP |
| 12 | g.112450341T>A | CA386777472 | PTPN11 | c.161T>A (p.Ile54Asn) c.158T>A (p.Ile53Asn) | dbSNP |
| 12 | g.112450341T>C | CA386777473 | PTPN11 | c.161T>C (p.Ile54Thr) c.158T>C (p.Ile53Thr) | COSMIC |
| 12 | g.112450341T>G | CA386777476 | PTPN11 | c.161T>G (p.Ile54Ser) c.158T>G (p.Ile53Ser) | |
| 12 | g.112450342C>A | CA481881694 | PTPN11 | c.162C>A (p.Ile54=) c.159C>A (p.Ile53=) | dbSNP |
| 12 | g.112450342C= | CA2063739913 | PTPN11 | c.162C= (p.Ile54=) c.159C= (p.Ile53=) | |
| 12 | g.112450342C>G | CA386777478 | PTPN11 | c.162C>G (p.Ile54Met) c.159C>G (p.Ile53Met) | dbSNP |
| 12 | g.112450342C>T | CA481881697 | PTPN11 | c.162C>T (p.Ile54=) c.159C>T (p.Ile53=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450343A>C | CA386777486 | PTPN11 | c.163A>C (p.Lys55Gln) c.160A>C (p.Lys54Gln) | |
| 12 | g.112450343A>G | CA386777489 | PTPN11 | c.163A>G (p.Lys55Glu) c.160A>G (p.Lys54Glu) | dbSNP |
| 12 | g.112450343A>T | CA386777490 | PTPN11 | c.163A>T (p.Lys55Ter) c.160A>T (p.Lys54Ter) | |
| 12 | g.112450344A= | CA2063739924 | PTPN11 | c.164A= (p.Lys55=) c.161A= (p.Lys54=) | |
| 12 | g.112450344A>C | CA386777491 | PTPN11 | c.164A>C (p.Lys55Thr) c.161A>C (p.Lys54Thr) | |
| 12 | g.112450344A>G | CA386777492 | PTPN11 | c.164A>G (p.Lys55Arg) c.161A>G (p.Lys54Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450344A>T | CA386777493 | PTPN11 | c.164A>T (p.Lys55Met) c.161A>T (p.Lys54Met) | dbSNP |
| 12 | g.112450345G>A | CA481881706 | PTPN11 | c.165G>A (p.Lys55=) c.162G>A (p.Lys54=) | gnomAD v4 |
| 12 | g.112450345G>C | CA386777496 | PTPN11 | c.165G>C (p.Lys55Asn) c.162G>C (p.Lys54Asn) | dbSNP |
| 12 | g.112450345G>T | CA386777495 | PTPN11 | c.165G>T (p.Lys55Asn) c.162G>T (p.Lys54Asn) | COSMIC |
| 12 | g.112450346A= | CA2063739930 | PTPN11 | c.166A= (p.Ile56=) c.163A= (p.Ile55=) | |
| 12 | g.112450346A>C | CA386777498 | PTPN11 | c.166A>C (p.Ile56Leu) c.163A>C (p.Ile55Leu) | |
| 12 | g.112450346A>G | CA180973 | PTPN11 | c.166A>G (p.Ile56Val) c.163A>G (p.Ile55Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450346A>T | CA386777499 | PTPN11 | c.166A>T (p.Ile56Phe) c.163A>T (p.Ile55Phe) | dbSNP |
| 12 | g.112450347T>A | CA386777506 | PTPN11 | c.167T>A (p.Ile56Asn) c.164T>A (p.Ile55Asn) | dbSNP |
| 12 | g.112450347T>C | CA243707917 | PTPN11 | c.167T>C (p.Ile56Thr) c.164T>C (p.Ile55Thr) | ClinVar dbSNP |
| 12 | g.112450347T>G | CA386777508 | PTPN11 | c.167T>G (p.Ile56Ser) c.164T>G (p.Ile55Ser) | dbSNP |
| 12 | g.112450347T= | CA2063739937 | PTPN11 | c.167T= (p.Ile56=) c.164T= (p.Ile55=) | |
| 12 | g.112450348T>A | CA481881710 | PTPN11 | c.168T>A (p.Ile56=) c.165T>A (p.Ile55=) | dbSNP |
| 12 | g.112450348T>C | CA481881711 | PTPN11 | c.168T>C (p.Ile56=) c.165T>C (p.Ile55=) | |
| 12 | g.112450348T>G | CA386777512 | PTPN11 | c.168T>G (p.Ile56Met) c.165T>G (p.Ile55Met) | |
| 12 | g.112450349C>A | CA386777514 | PTPN11 | c.169C>A (p.Gln57Lys) c.166C>A (p.Gln56Lys) | dbSNP |
| 12 | g.112450349C>G | CA386777516 | PTPN11 | c.169C>G (p.Gln57Glu) c.166C>G (p.Gln56Glu) | dbSNP |
| 12 | g.112450349C>T | CA386777518 | PTPN11 | c.169C>T (p.Gln57Ter) c.166C>T (p.Gln56Ter) | dbSNP |
| 12 | g.112450350A>C | CA386777526 | PTPN11 | c.170A>C (p.Gln57Pro) c.167A>C (p.Gln56Pro) | |
| 12 | g.112450350A>G | CA386777521 | PTPN11 | c.170A>G (p.Gln57Arg) c.167A>G (p.Gln56Arg) | dbSNP |
| 12 | g.112450350A>T | CA386777525 | PTPN11 | c.170A>T (p.Gln57Leu) c.167A>T (p.Gln56Leu) | dbSNP |
| 12 | g.112450351_112450353del | CA2580085817 | PTPN11 | c.171_173del (p.Gln57_Asn58delinsHis) c.168_170del (p.Gln56_Asn57delinsHis) | ClinVar |
| 12 | g.112450351G>A | CA481881714 | PTPN11 | c.171G>A (p.Gln57=) c.168G>A (p.Gln56=) | dbSNP gnomAD v4 |
| 12 | g.112450351G>C | CA386777529 | PTPN11 | c.171G>C (p.Gln57His) c.168G>C (p.Gln56His) | dbSNP |
| 12 | g.112450351G>T | CA386777534 | PTPN11 | c.171G>T (p.Gln57His) c.168G>T (p.Gln56His) | ClinVar |
| 12 | g.112450352A= | CA2063739943 | PTPN11 | c.172A= (p.Asn58=) c.169A= (p.Asn57=) | |
| 12 | g.112450352A>C | CA235310 | PTPN11 | c.172A>C (p.Asn58His) c.169A>C (p.Asn57His) | ClinVar dbSNP |
| 12 | g.112450352A>G | CA261558 | PTPN11 | c.172A>G (p.Asn58Asp) c.169A>G (p.Asn57Asp) | ClinVar dbSNP |
| 12 | g.112450352A>T | CA297070 | PTPN11 | c.172A>T (p.Asn58Tyr) c.169A>T (p.Asn57Tyr) | ClinVar dbSNP COSMIC |
| 12 | g.112450353_112450355del | CA2739277319 | PTPN11 | c.173_175del (p.Asn58del) c.170_172del (p.Asn57del) | ClinVar |
| 12 | g.112450353A= | CA2063739962 | PTPN11 | c.173A= (p.Asn58=) c.170A= (p.Asn57=) | |
| 12 | g.112450353A>C | CA386777541 | PTPN11 | c.173A>C (p.Asn58Thr) c.170A>C (p.Asn57Thr) | |
| 12 | g.112450353A>G | CA6798530 | PTPN11 | c.173A>G (p.Asn58Ser) c.170A>G (p.Asn57Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112450353A>T | CA386777543 | PTPN11 | c.173A>T (p.Asn58Ile) c.170A>T (p.Asn57Ile) | dbSNP |
| 12 | g.112450355_112450366dup | CA1139662887 | PTPN11 | c.175_186dup (p.Tyr62_Tyr63insThrGlyAspTyr) c.172_183dup (p.Tyr61_Tyr62insThrGlyAspTyr) | ClinVar |
| 12 | g.112450354C>A | CA235313 | PTPN11 | c.174C>A (p.Asn58Lys) c.171C>A (p.Asn57Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450354C= | CA2063739974 | PTPN11 | c.174C= (p.Asn58=) c.171C= (p.Asn57=) | |
| 12 | g.112450354C>G | CA261561 | PTPN11 | c.174C>G (p.Asn58Lys) c.171C>G (p.Asn57Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450354C>T | CA481881720 | PTPN11 | c.174C>T (p.Asn58=) c.171C>T (p.Asn57=) | dbSNP |
| 12 | g.112450355A= | CA2063739986 | PTPN11 | c.175A= (p.Thr59=) c.172A= (p.Thr58=) | |
| 12 | g.112450355A>C | CA386777551 | PTPN11 | c.175A>C (p.Thr59Pro) c.172A>C (p.Thr58Pro) | |
| 12 | g.112450355A>G | CA10605950 | PTPN11 | c.175A>G (p.Thr59Ala) c.172A>G (p.Thr58Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450355A>T | CA386777558 | PTPN11 | c.175A>T (p.Thr59Ser) c.172A>T (p.Thr58Ser) | dbSNP |
| 12 | g.112450356C>A | CA386777561 | PTPN11 | c.176C>A (p.Thr59Asn) c.173C>A (p.Thr58Asn) | dbSNP |
| 12 | g.112450356C>G | CA386777562 | PTPN11 | c.176C>G (p.Thr59Ser) c.173C>G (p.Thr58Ser) | dbSNP |
| 12 | g.112450356C>T | CA386777563 | PTPN11 | c.176C>T (p.Thr59Ile) c.173C>T (p.Thr58Ile) | dbSNP |
| 12 | g.112450356_112450359delinsCTGG | CA2063739999 | PTPN11 | c.176_179delinsCTGG (p.Thr59=) c.173_176delinsCTGG (p.Thr58=) | |
| 12 | g.112450357T>A | CA481881723 | PTPN11 | c.177T>A (p.Thr59=) c.174T>A (p.Thr58=) | |
| 12 | g.112450357T>C | CA481881724 | PTPN11 | c.177T>C (p.Thr59=) c.174T>C (p.Thr58=) | COSMIC |
| 12 | g.112450357T>G | CA481881725 | PTPN11 | c.177T>G (p.Thr59=) c.174T>G (p.Thr58=) | |
| 12 | g.112450359_112450361del | CA341279 | PTPN11 | c.179_181del (p.Gly60del) c.176_178del (p.Gly59del) | ClinVar dbSNP |
| 12 | g.112450358G>A | CA235370 | PTPN11 | c.178G>A (p.Gly60Ser) c.175G>A (p.Gly59Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450358G>C | CA16042862 | PTPN11 | c.178G>C (p.Gly60Arg) c.175G>C (p.Gly59Arg) | ClinVar dbSNP COSMIC |
| 12 | g.112450358G= | CA2063740020 | PTPN11 | c.178G= (p.Gly60=) c.175G= (p.Gly59=) | |
| 12 | g.112450358G>T | CA215448 | PTPN11 | c.178G>T (p.Gly60Cys) c.175G>T (p.Gly59Cys) | ClinVar dbSNP |
| 12 | g.112450358_112450362delinsGGTGA | CA2063740012 | PTPN11 | c.178_182delinsGGTGA (p.Gly60=) c.175_179delinsGGTGA (p.Gly59=) | |
| 12 | g.112450359G>A | CA386777568 | PTPN11 | c.179G>A (p.Gly60Asp) c.176G>A (p.Gly59Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450359G>C | CA261562 | PTPN11 | c.179G>C (p.Gly60Ala) c.176G>C (p.Gly59Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450359G= | CA2063740040 | PTPN11 | c.179G= (p.Gly60=) c.176G= (p.Gly59=) | |
| 12 | g.112450359G>T | CA284662 | PTPN11 | c.179G>T (p.Gly60Val) c.176G>T (p.Gly59Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450359_112450362delinsT | CA282067 | PTPN11 | c.179_182delinsT (p.Gly60_Asp61delinsVal) c.176_179delinsT (p.Gly59_Asp60delinsVal) | ClinVar dbSNP |
| 12 | g.112450359_112450362delinsGTGA | CA2063740049 | PTPN11 | c.179_182delinsGTGA (p.Gly60=) c.176_179delinsGTGA (p.Gly59=) | |
| 12 | g.112450360T>A | CA481881734 | PTPN11 | c.180T>A (p.Gly60=) c.177T>A (p.Gly59=) | dbSNP |
| 12 | g.112450360T>C | CA481881738 | PTPN11 | c.180T>C (p.Gly60=) c.177T>C (p.Gly59=) | dbSNP |
| 12 | g.112450360T>G | CA481881735 | PTPN11 | c.180T>G (p.Gly60=) c.177T>G (p.Gly59=) | |
| 12 | g.112450360_112450361delinsAA | CA16042833 | PTPN11 | c.180_181delinsAA (p.Asp61Asn) c.177_178delinsAA (p.Asp60Asn) | ClinVar dbSNP |
| 12 | g.112450360_112450361delinsGT | CA243707918 | PTPN11 | c.180_181delinsGT (p.Asp61Tyr) c.177_178delinsGT (p.Asp60Tyr) | |
| 12 | g.112450360_112450361delinsTG | CA2063740068 | PTPN11 | c.180_181delinsTG (p.Gly60=) c.177_178delinsTG (p.Gly59=) | |
| 12 | g.112450361_112450363del | CA356977 | PTPN11 | c.181_183del (p.Asp61del) c.178_180del (p.Asp60del) | ClinVar dbSNP |
| 12 | g.112450361G>A | CA235316 | PTPN11 | c.181G>A (p.Asp61Asn) c.178G>A (p.Asp60Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450361G>C | CA282070 | PTPN11 | c.181G>C (p.Asp61His) c.178G>C (p.Asp60His) | ClinVar dbSNP COSMIC |
| 12 | g.112450361G= | CA2063740088 | PTPN11 | c.181G= (p.Asp61=) c.178G= (p.Asp60=) | |
| 12 | g.112450361G>T | CA10576907 | PTPN11 | c.181G>T (p.Asp61Tyr) c.178G>T (p.Asp60Tyr) | ClinVar dbSNP COSMIC |
| 12 | g.112450361_112450362delinsTT | CA645580455 | PTPN11 | c.181_182delinsTT (p.Asp61Phe) c.178_179delinsTT (p.Asp60Phe) | COSMIC |
| 12 | g.112450361_112450362insT | CA645580456 | PTPN11 | c.181_182insT (p.Asp61ValfsTer4) c.178_179insT (p.Asp60ValfsTer4) | COSMIC |
| 12 | g.112450362A= | CA2063740102 | PTPN11 | c.182A= (p.Asp61=) c.179A= (p.Asp60=) | |
| 12 | g.112450362A>C | CA273600 | PTPN11 | c.182A>C (p.Asp61Ala) c.179A>C (p.Asp60Ala) | ClinVar dbSNP COSMIC |
| 12 | g.112450362A>G | CA177665 | PTPN11 | c.182A>G (p.Asp61Gly) c.179A>G (p.Asp60Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450362A>T | CA282073 | PTPN11 | c.182A>T (p.Asp61Val) c.179A>T (p.Asp60Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450363T>A | CA386777586 | PTPN11 | c.183T>A (p.Asp61Glu) c.180T>A (p.Asp60Glu) | dbSNP gnomAD v4 |
| 12 | g.112450363T>C | CA481881741 | PTPN11 | c.183T>C (p.Asp61=) c.180T>C (p.Asp60=) | |
| 12 | g.112450363T>G | CA386777588 | PTPN11 | c.183T>G (p.Asp61Glu) c.180T>G (p.Asp60Glu) | dbSNP |
| 12 | g.112450364T>A | CA282076 | PTPN11 | c.184T>A (p.Tyr62Asn) c.181T>A (p.Tyr61Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450364T>C | CA386777592 | PTPN11 | c.184T>C (p.Tyr62His) c.181T>C (p.Tyr61His) | gnomAD v4 |
| 12 | g.112450364T>G | CA234749 | PTPN11 | c.184T>G (p.Tyr62Asp) c.181T>G (p.Tyr61Asp) | ClinVar dbSNP COSMIC |
| 12 | g.112450364T= | CA2063740115 | PTPN11 | c.184T= (p.Tyr62=) c.181T= (p.Tyr61=) | |
| 12 | g.112450364_112450365delinsAT | CA2739277320 | PTPN11 | c.184_185delinsAT (p.Tyr62Ile) c.181_182delinsAT (p.Tyr61Ile) | ClinVar |
| 12 | g.112450366_112450368del | CA1139662888 | PTPN11 | c.186_188del (p.Tyr63del) c.183_185del (p.Tyr62del) | ClinVar |
| 12 | g.112450365A= | CA2063740123 | PTPN11 | c.185A= (p.Tyr62=) c.182A= (p.Tyr61=) | |
| 12 | g.112450365A>C | CA386777608 | PTPN11 | c.185A>C (p.Tyr62Ser) c.182A>C (p.Tyr61Ser) | ClinVar gnomAD v4 |
| 12 | g.112450365A>G | CA243707919 | PTPN11 | c.185A>G (p.Tyr62Cys) c.182A>G (p.Tyr61Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450365A>T | CA386777612 | PTPN11 | c.185A>T (p.Tyr62Phe) c.182A>T (p.Tyr61Phe) | dbSNP |
| 12 | g.112450366C>A | CA386777615 | PTPN11 | c.186C>A (p.Tyr62Ter) c.183C>A (p.Tyr61Ter) | |
| 12 | g.112450366C>G | CA386777617 | PTPN11 | c.186C>G (p.Tyr62Ter) c.183C>G (p.Tyr61Ter) | dbSNP |
| 12 | g.112450366C>T | CA481881749 | PTPN11 | c.186C>T (p.Tyr62=) c.183C>T (p.Tyr61=) | dbSNP gnomAD v4 |
| 12 | g.112450367T>A | CA386777619 | PTPN11 | c.187T>A (p.Tyr63Asn) c.184T>A (p.Tyr62Asn) | |
| 12 | g.112450367T>C | CA386777622 | PTPN11 | c.187T>C (p.Tyr63His) c.184T>C (p.Tyr62His) | dbSNP |
| 12 | g.112450367T>G | CA386777625 | PTPN11 | c.187T>G (p.Tyr63Asp) c.184T>G (p.Tyr62Asp) | |
| 12 | g.112450368_112450378del | CA2621021698 | PTPN11 | c.188_198del (p.Tyr63TrpfsTer10) c.185_195del (p.Tyr62TrpfsTer10) | gnomAD v4 |
| 12 | g.112450368A= | CA2063740132 | PTPN11 | c.188A= (p.Tyr63=) c.185A= (p.Tyr62=) | |
| 12 | g.112450368A>C | CA386777628 | PTPN11 | c.188A>C (p.Tyr63Ser) c.185A>C (p.Tyr62Ser) | |
| 12 | g.112450368A>G | CA220146 | PTPN11 | c.188A>G (p.Tyr63Cys) c.185A>G (p.Tyr62Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112450368A>T | CA386777632 | PTPN11 | c.188A>T (p.Tyr63Phe) c.185A>T (p.Tyr62Phe) | dbSNP |
| 12 | g.112450368_112450369delinsAT | CA2063740135 | PTPN11 | c.188_189delinsAT (p.Tyr63=) c.185_186delinsAT (p.Tyr62=) | |
| 12 | g.112450368_112450369delinsGC | CA16042834 | PTPN11 | c.188_189delinsGC (p.Tyr63Cys) c.185_186delinsGC (p.Tyr62Cys) | ClinVar dbSNP |
| 12 | g.112450369T>A | CA386777636 | PTPN11 | c.189T>A (p.Tyr63Ter) c.186T>A (p.Tyr62Ter) | dbSNP |
| 12 | g.112450369T>C | CA481881753 | PTPN11 | c.189T>C (p.Tyr63=) c.186T>C (p.Tyr62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450369T>G | CA386777638 | PTPN11 | c.189T>G (p.Tyr63Ter) c.186T>G (p.Tyr62Ter) | |
| 12 | g.112450369T= | CA2063740140 | PTPN11 | c.189T= (p.Tyr63=) c.186T= (p.Tyr62=) | |
| 12 | g.112450370G>A | CA386777641 | PTPN11 | c.190G>A (p.Asp64Asn) c.187G>A (p.Asp63Asn) | dbSNP COSMIC |
| 12 | g.112450370G>C | CA386777644 | PTPN11 | c.190G>C (p.Asp64His) c.187G>C (p.Asp63His) | dbSNP |
| 12 | g.112450370G>T | CA386777647 | PTPN11 | c.190G>T (p.Asp64Tyr) c.187G>T (p.Asp63Tyr) | gnomAD v4 |
| 12 | g.112450371A>C | CA386777648 | PTPN11 | c.191A>C (p.Asp64Ala) c.188A>C (p.Asp63Ala) | |
| 12 | g.112450371A>G | CA386777650 | PTPN11 | c.191A>G (p.Asp64Gly) c.188A>G (p.Asp63Gly) | dbSNP |
| 12 | g.112450371A>T | CA386777652 | PTPN11 | c.191A>T (p.Asp64Val) c.188A>T (p.Asp63Val) | dbSNP |
| 12 | g.112450372C>A | CA386777655 | PTPN11 | c.192C>A (p.Asp64Glu) c.189C>A (p.Asp63Glu) | dbSNP |
| 12 | g.112450372C>G | CA386777663 | PTPN11 | c.192C>G (p.Asp64Glu) c.189C>G (p.Asp63Glu) | dbSNP |
| 12 | g.112450372C>T | CA481881759 | PTPN11 | c.192C>T (p.Asp64=) c.189C>T (p.Asp63=) | dbSNP gnomAD v4 |
| 12 | g.112450373C>A | CA386777670 | PTPN11 | c.193C>A (p.Leu65Met) c.190C>A (p.Leu64Met) | dbSNP |
| 12 | g.112450373C>G | CA386777672 | PTPN11 | c.193C>G (p.Leu65Val) c.190C>G (p.Leu64Val) | dbSNP |
| 12 | g.112450373C>T | CA481881760 | PTPN11 | c.193C>T (p.Leu65=) c.190C>T (p.Leu64=) | dbSNP |
| 12 | g.112450374T>A | CA386777674 | PTPN11 | c.194T>A (p.Leu65Gln) c.191T>A (p.Leu64Gln) | dbSNP |
| 12 | g.112450374T>C | CA386777677 | PTPN11 | c.194T>C (p.Leu65Pro) c.191T>C (p.Leu64Pro) | dbSNP |
| 12 | g.112450374T>G | CA386777681 | PTPN11 | c.194T>G (p.Leu65Arg) c.191T>G (p.Leu64Arg) | |
| 12 | g.112450375G>A | CA481881764 | PTPN11 | c.195G>A (p.Leu65=) c.192G>A (p.Leu64=) | dbSNP |
| 12 | g.112450375G>C | CA481881765 | PTPN11 | c.195G>C (p.Leu65=) c.192G>C (p.Leu64=) | dbSNP gnomAD v4 |
| 12 | g.112450375G>T | CA481881767 | PTPN11 | c.195G>T (p.Leu65=) c.192G>T (p.Leu64=) | |
| 12 | g.112450376T>A | CA386777689 | PTPN11 | c.196T>A (p.Tyr66Asn) c.193T>A (p.Tyr65Asn) | dbSNP |
| 12 | g.112450376T>C | CA386777687 | PTPN11 | c.196T>C (p.Tyr66His) c.193T>C (p.Tyr65His) | dbSNP |
| 12 | g.112450376T>G | CA386777684 | PTPN11 | c.196T>G (p.Tyr66Asp) c.193T>G (p.Tyr65Asp) | dbSNP |
| 12 | g.112450377A>C | CA386777693 | PTPN11 | c.197A>C (p.Tyr66Ser) c.194A>C (p.Tyr65Ser) | |
| 12 | g.112450377A>G | CA386777695 | PTPN11 | c.197A>G (p.Tyr66Cys) c.194A>G (p.Tyr65Cys) | |
| 12 | g.112450377A>T | CA386777697 | PTPN11 | c.197A>T (p.Tyr66Phe) c.194A>T (p.Tyr65Phe) | dbSNP |
| 12 | g.112450378T>A | CA386777699 | PTPN11 | c.198T>A (p.Tyr66Ter) c.195T>A (p.Tyr65Ter) | |
| 12 | g.112450378T>C | CA481881769 | PTPN11 | c.198T>C (p.Tyr66=) c.195T>C (p.Tyr65=) | ClinVar gnomAD v4 |
| 12 | g.112450378T>G | CA386777701 | PTPN11 | c.198T>G (p.Tyr66Ter) c.195T>G (p.Tyr65Ter) | |
| 12 | g.112450379G>A | CA386777704 | PTPN11 | c.199G>A (p.Gly67Arg) c.196G>A (p.Gly66Arg) | |
| 12 | g.112450379G>C | CA386777707 | PTPN11 | c.199G>C (p.Gly67Arg) c.196G>C (p.Gly66Arg) | |
| 12 | g.112450379G>T | CA386777711 | PTPN11 | c.199G>T (p.Gly67Ter) c.196G>T (p.Gly66Ter) | |
| 12 | g.112450380G>A | CA386777716 | PTPN11 | c.200G>A (p.Gly67Glu) c.197G>A (p.Gly66Glu) | dbSNP |
| 12 | g.112450380G>C | CA386777719 | PTPN11 | c.200G>C (p.Gly67Ala) c.197G>C (p.Gly66Ala) | dbSNP |
| 12 | g.112450380G>T | CA386777721 | PTPN11 | c.200G>T (p.Gly67Val) c.197G>T (p.Gly66Val) | dbSNP |
| 12 | g.112450381A>C | CA481881776 | PTPN11 | c.201A>C (p.Gly67=) c.198A>C (p.Gly66=) | |
| 12 | g.112450381A>G | CA481881777 | PTPN11 | c.201A>G (p.Gly67=) c.198A>G (p.Gly66=) | |
| 12 | g.112450381A>T | CA481881778 | PTPN11 | c.201A>T (p.Gly67=) c.198A>T (p.Gly66=) | dbSNP |
| 12 | g.112450382G>A | CA386777723 | PTPN11 | c.202G>A (p.Gly68Arg) c.199G>A (p.Gly67Arg) | dbSNP |
| 12 | g.112450382G>C | CA386777727 | PTPN11 | c.202G>C (p.Gly68Arg) c.199G>C (p.Gly67Arg) | dbSNP |
| 12 | g.112450382G>T | CA386777738 | PTPN11 | c.202G>T (p.Gly68Trp) c.199G>T (p.Gly67Trp) | dbSNP |
| 12 | g.112450383G>A | CA386777746 | PTPN11 | c.203G>A (p.Gly68Glu) c.200G>A (p.Gly67Glu) | dbSNP |
| 12 | g.112450383G>C | CA386777748 | PTPN11 | c.203G>C (p.Gly68Ala) c.200G>C (p.Gly67Ala) | dbSNP |
| 12 | g.112450383G>T | CA386777742 | PTPN11 | c.203G>T (p.Gly68Val) c.200G>T (p.Gly67Val) | dbSNP |
| 12 | g.112450383_112450384delinsCT | CA2573320621 | PTPN11 | c.203_204delinsCT (p.Gly68Ala) c.200_201delinsCT (p.Gly67Ala) | |
| 12 | g.112450384G>A | CA481881782 | PTPN11 | c.204G>A (p.Gly68=) c.201G>A (p.Gly67=) | dbSNP gnomAD v4 |
| 12 | g.112450384G>C | CA481881780 | PTPN11 | c.204G>C (p.Gly68=) c.201G>C (p.Gly67=) | dbSNP |
| 12 | g.112450384G>T | CA481881779 | PTPN11 | c.204G>T (p.Gly68=) c.201G>T (p.Gly67=) | dbSNP |
| 12 | g.112450385G>A | CA354979 | PTPN11 | c.205G>A (p.Glu69Lys) c.202G>A (p.Glu68Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450385G>C | CA261565 | PTPN11 | c.205G>C (p.Glu69Gln) c.202G>C (p.Glu68Gln) | ClinVar dbSNP ExAC COSMIC |
| 12 | g.112450385G= | CA2063740146 | PTPN11 | c.205G= (p.Glu69=) c.202G= (p.Glu68=) | |
| 12 | g.112450385G>T | CA386777753 | PTPN11 | c.205G>T (p.Glu69Ter) c.202G>T (p.Glu68Ter) | |
| 12 | g.112450386A= | CA2063740153 | PTPN11 | c.206A= (p.Glu69=) c.203A= (p.Glu68=) | |
| 12 | g.112450386A>C | CA386777758 | PTPN11 | c.206A>C (p.Glu69Ala) c.203A>C (p.Glu68Ala) | ClinVar |
| 12 | g.112450386A>G | CA386777771 | PTPN11 | c.206A>G (p.Glu69Gly) c.203A>G (p.Glu68Gly) | dbSNP |
| 12 | g.112450386A>T | CA177668 | PTPN11 | c.206A>T (p.Glu69Val) c.203A>T (p.Glu68Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450387G>A | CA481881785 | PTPN11 | c.207G>A (p.Glu69=) c.204G>A (p.Glu68=) | dbSNP |
| 12 | g.112450387G>C | CA386777775 | PTPN11 | c.207G>C (p.Glu69Asp) c.204G>C (p.Glu68Asp) | dbSNP |
| 12 | g.112450387G>T | CA386777778 | PTPN11 | c.207G>T (p.Glu69Asp) c.204G>T (p.Glu68Asp) | dbSNP |
| 12 | g.112450388A>C | CA386777781 | PTPN11 | c.208A>C (p.Lys70Gln) c.205A>C (p.Lys69Gln) | |
| 12 | g.112450388A>G | CA386777784 | PTPN11 | c.208A>G (p.Lys70Glu) c.205A>G (p.Lys69Glu) | |
| 12 | g.112450388A>T | CA386777786 | PTPN11 | c.208A>T (p.Lys70Ter) c.205A>T (p.Lys69Ter) | COSMIC |
| 12 | g.112450389A= | CA2063740160 | PTPN11 | c.209A= (p.Lys70=) c.206A= (p.Lys69=) | |
| 12 | g.112450389A>C | CA386777791 | PTPN11 | c.209A>C (p.Lys70Thr) c.206A>C (p.Lys69Thr) | |
| 12 | g.112450389A>G | CA261568 | PTPN11 | c.209A>G (p.Lys70Arg) c.206A>G (p.Lys69Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450389A>T | CA386777795 | PTPN11 | c.209A>T (p.Lys70Ile) c.206A>T (p.Lys69Ile) | |
| 12 | g.112450390A>C | CA386777799 | PTPN11 | c.210A>C (p.Lys70Asn) c.207A>C (p.Lys69Asn) | |
| 12 | g.112450390A>G | CA481881787 | PTPN11 | c.210A>G (p.Lys70=) c.207A>G (p.Lys69=) | ClinVar |
| 12 | g.112450390A>T | CA386777801 | PTPN11 | c.210A>T (p.Lys70Asn) c.207A>T (p.Lys69Asn) | dbSNP |
| 12 | g.112450391T>A | CA386777804 | PTPN11 | c.211T>A (p.Phe71Ile) c.208T>A (p.Phe70Ile) | dbSNP |
| 12 | g.112450391T>C | CA273215 | PTPN11 | c.211T>C (p.Phe71Leu) c.208T>C (p.Phe70Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450391T>G | CA297073 | PTPN11 | c.211T>G (p.Phe71Val) c.208T>G (p.Phe70Val) | ClinVar dbSNP |
| 12 | g.112450391T= | CA2063740165 | PTPN11 | c.211T= (p.Phe71=) c.208T= (p.Phe70=) | |
| 12 | g.112450391_112450393delinsAAA | CA645580457 | PTPN11 | c.211_213delinsAAA (p.Phe71Lys) c.208_210delinsAAA (p.Phe70Lys) | COSMIC |
| 12 | g.112450392T>A | CA386777826 | PTPN11 | c.212T>A (p.Phe71Tyr) c.209T>A (p.Phe70Tyr) | dbSNP |
| 12 | g.112450392T>C | CA386777828 | PTPN11 | c.212T>C (p.Phe71Ser) c.209T>C (p.Phe70Ser) | |
| 12 | g.112450392T>G | CA6798531 | PTPN11 | c.212T>G (p.Phe71Cys) c.209T>G (p.Phe70Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450392T= | CA2063740170 | PTPN11 | c.212T= (p.Phe71=) c.209T= (p.Phe70=) | |
| 12 | g.112450393T>A | CA386777846 | PTPN11 | c.213T>A (p.Phe71Leu) c.210T>A (p.Phe70Leu) | ClinVar dbSNP COSMIC |
| 12 | g.112450393T>C | CA481881789 | PTPN11 | c.213T>C (p.Phe71=) c.210T>C (p.Phe70=) | dbSNP |
| 12 | g.112450393T>G | CA386777847 | PTPN11 | c.213T>G (p.Phe71Leu) c.210T>G (p.Phe70Leu) | ClinVar dbSNP COSMIC |
| 12 | g.112450393T= | CA2063740176 | PTPN11 | c.213T= (p.Phe71=) c.210T= (p.Phe70=) | |
| 12 | g.112450394G>A | CA180706 | PTPN11 | c.214G>A (p.Ala72Thr) c.211G>A (p.Ala71Thr) | ClinVar dbSNP COSMIC |
| 12 | g.112450394G>C | CA261571 | PTPN11 | c.214G>C (p.Ala72Pro) c.211G>C (p.Ala71Pro) | ClinVar dbSNP |
| 12 | g.112450394G= | CA2063740190 | PTPN11 | c.214G= (p.Ala72=) c.211G= (p.Ala71=) | |
| 12 | g.112450394G>T | CA256749 | PTPN11 | c.214G>T (p.Ala72Ser) c.211G>T (p.Ala71Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450395C>A | CA16602941 | PTPN11 | c.215C>A (p.Ala72Asp) c.212C>A (p.Ala71Asp) | ClinVar dbSNP COSMIC |
| 12 | g.112450395C= | CA2063740202 | PTPN11 | c.215C= (p.Ala72=) c.212C= (p.Ala71=) | |
| 12 | g.112450395C>G | CA235319 | PTPN11 | c.215C>G (p.Ala72Gly) c.212C>G (p.Ala71Gly) | ClinVar dbSNP COSMIC |
| 12 | g.112450395C>T | CA215451 | PTPN11 | c.215C>T (p.Ala72Val) c.212C>T (p.Ala71Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450395_112450396delinsTT | CA645580458 | PTPN11 | c.215_216delinsTT (p.Ala72Val) c.212_213delinsTT (p.Ala71Val) | COSMIC |
| 12 | g.112450396C>A | CA481881792 | PTPN11 | c.216C>A (p.Ala72=) c.213C>A (p.Ala71=) | |
| 12 | g.112450396C= | CA2063740207 | PTPN11 | c.216C= (p.Ala72=) c.213C= (p.Ala71=) | |
| 12 | g.112450396C>G | CA481881793 | PTPN11 | c.216C>G (p.Ala72=) c.213C>G (p.Ala71=) | |
| 12 | g.112450396C>T | CA6798532 | PTPN11 | c.216C>T (p.Ala72=) c.213C>T (p.Ala71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450397A= | CA2063740214 | PTPN11 | c.217A= (p.Thr73=) c.214A= (p.Thr72=) | |
| 12 | g.112450397A>C | CA282079 | PTPN11 | c.217A>C (p.Thr73Pro) c.214A>C (p.Thr72Pro) | ClinVar dbSNP |
| 12 | g.112450397A>G | CA386777857 | PTPN11 | c.217A>G (p.Thr73Ala) c.214A>G (p.Thr72Ala) | ClinVar gnomAD v4 |
| 12 | g.112450397A>T | CA386777860 | PTPN11 | c.217A>T (p.Thr73Ser) c.214A>T (p.Thr72Ser) | dbSNP |
| 12 | g.112450397_112450398delinsAC | CA2063740226 | PTPN11 | c.217_218delinsAC (p.Thr73=) c.214_215delinsAC (p.Thr72=) | |
| 12 | g.112450397_112450398delinsCT | CA261574 | PTPN11 | c.217_218delinsCT (p.Thr73Leu) c.214_215delinsCT (p.Thr72Leu) | ClinVar dbSNP |
| 12 | g.112450398C>A | CA386777862 | PTPN11 | c.218C>A (p.Thr73Asn) c.215C>A (p.Thr72Asn) | dbSNP |
| 12 | g.112450398C= | CA2063740240 | PTPN11 | c.218C= (p.Thr73=) c.215C= (p.Thr72=) | |
| 12 | g.112450398C>G | CA386777865 | PTPN11 | c.218C>G (p.Thr73Ser) c.215C>G (p.Thr72Ser) | dbSNP |
| 12 | g.112450398C>T | CA256752 | PTPN11 | c.218C>T (p.Thr73Ile) c.215C>T (p.Thr72Ile) | ClinVar dbSNP COSMIC |
| 12 | g.112450399T>A | CA481881797 | PTPN11 | c.219T>A (p.Thr73=) c.216T>A (p.Thr72=) | dbSNP |
| 12 | g.112450399T>C | CA481881798 | PTPN11 | c.219T>C (p.Thr73=) c.216T>C (p.Thr72=) | |
| 12 | g.112450399T>G | CA481881799 | PTPN11 | c.219T>G (p.Thr73=) c.216T>G (p.Thr72=) | |
| 12 | g.112450400_112450401dup | CA2573148013 | PTPN11 | c.220_221dup (p.Leu74PhefsTer16) c.217_218dup (p.Leu73PhefsTer16) | ClinVar dbSNP |
| 12 | g.112450400T>A | CA386777866 | PTPN11 | c.220T>A (p.Leu74Met) c.217T>A (p.Leu73Met) | COSMIC |
| 12 | g.112450400T>C | CA481881800 | PTPN11 | c.220T>C (p.Leu74=) c.217T>C (p.Leu73=) | |
| 12 | g.112450400T>G | CA386777868 | PTPN11 | c.220T>G (p.Leu74Val) c.217T>G (p.Leu73Val) | dbSNP |
| 12 | g.112450400T= | CA2063740245 | PTPN11 | c.220T= (p.Leu74=) c.217T= (p.Leu73=) | |
| 12 | g.112450401T>A | CA386777871 | PTPN11 | c.221T>A (p.Leu74Ter) c.218T>A (p.Leu73Ter) | |
| 12 | g.112450401T>C | CA386777873 | PTPN11 | c.221T>C (p.Leu74Ser) c.218T>C (p.Leu73Ser) | |
| 12 | g.112450401T>G | CA386777874 | PTPN11 | c.221T>G (p.Leu74Trp) c.218T>G (p.Leu73Trp) | |
| 12 | g.112450402G>A | CA481881801 | PTPN11 | c.222G>A (p.Leu74=) c.219G>A (p.Leu73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450402G>C | CA386777877 | PTPN11 | c.222G>C (p.Leu74Phe) c.219G>C (p.Leu73Phe) | dbSNP COSMIC |
| 12 | g.112450402G= | CA2063740253 | PTPN11 | c.222G= (p.Leu74=) c.219G= (p.Leu73=) | |
| 12 | g.112450402G>T | CA386777879 | PTPN11 | c.222G>T (p.Leu74Phe) c.219G>T (p.Leu73Phe) | dbSNP |
| 12 | g.112450403del | CA645580459 | PTPN11 | c.223del (p.Ala75LeufsTer14) c.220del (p.Ala74LeufsTer14) | COSMIC |
| 12 | g.112450403G>A | CA386777881 | PTPN11 | c.223G>A (p.Ala75Thr) c.220G>A (p.Ala74Thr) | dbSNP |
| 12 | g.112450403G>C | CA386777884 | PTPN11 | c.223G>C (p.Ala75Pro) c.220G>C (p.Ala74Pro) | ClinVar dbSNP |
| 12 | g.112450403G= | CA2063740266 | PTPN11 | c.223G= (p.Ala75=) c.220G= (p.Ala74=) | |
| 12 | g.112450403G>T | CA386777885 | PTPN11 | c.223G>T (p.Ala75Ser) c.220G>T (p.Ala74Ser) | dbSNP |
| 12 | g.112450404C>A | CA386777891 | PTPN11 | c.224C>A (p.Ala75Asp) c.221C>A (p.Ala74Asp) | dbSNP |
| 12 | g.112450404C= | CA2063740272 | PTPN11 | c.224C= (p.Ala75=) c.221C= (p.Ala74=) | |
| 12 | g.112450404C>G | CA386777886 | PTPN11 | c.224C>G (p.Ala75Gly) c.221C>G (p.Ala74Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112450404C>T | CA386777889 | PTPN11 | c.224C>T (p.Ala75Val) c.221C>T (p.Ala74Val) | dbSNP |
| 12 | g.112450405T>A | CA481881805 | PTPN11 | c.225T>A (p.Ala75=) c.222T>A (p.Ala74=) | dbSNP |
| 12 | g.112450405T>C | CA481881804 | PTPN11 | c.225T>C (p.Ala75=) c.222T>C (p.Ala74=) | dbSNP |
| 12 | g.112450405T>G | CA481881803 | PTPN11 | c.225T>G (p.Ala75=) c.222T>G (p.Ala74=) | |
| 12 | g.112450406G>A | CA123038 | PTPN11 | c.226G>A (p.Glu76Lys) c.223G>A (p.Glu75Lys) | ClinVar dbSNP COSMIC |
| 12 | g.112450406G>C | CA297076 | PTPN11 | c.226G>C (p.Glu76Gln) c.223G>C (p.Glu75Gln) | ClinVar dbSNP COSMIC |
| 12 | g.112450406G= | CA2063740276 | PTPN11 | c.226G= (p.Glu76=) c.223G= (p.Glu75=) | |
| 12 | g.112450406G>T | CA386777894 | PTPN11 | c.226G>T (p.Glu76Ter) c.223G>T (p.Glu75Ter) | |
| 12 | g.112450406_112450407delinsAT | CA645580460 | PTPN11 | c.226_227delinsAT (p.Glu76Met) c.223_224delinsAT (p.Glu75Met) | COSMIC |
| 12 | g.112450407A= | CA2063740301 | PTPN11 | c.227A= (p.Glu76=) c.224A= (p.Glu75=) | |
| 12 | g.112450407A>C | CA123047 | PTPN11 | c.227A>C (p.Glu76Ala) c.224A>C (p.Glu75Ala) | ClinVar dbSNP COSMIC |
| 12 | g.112450407A>G | CA123044 | PTPN11 | c.227A>G (p.Glu76Gly) c.224A>G (p.Glu75Gly) | ClinVar dbSNP COSMIC |
| 12 | g.112450407A>T | CA123041 | PTPN11 | c.227A>T (p.Glu76Val) c.224A>T (p.Glu75Val) | ClinVar dbSNP COSMIC |
| 12 | g.112450408G>A | CA481881807 | PTPN11 | c.228G>A (p.Glu76=) c.225G>A (p.Glu75=) | ClinVar dbSNP |
| 12 | g.112450408G>C | CA261577 | PTPN11 | c.228G>C (p.Glu76Asp) c.225G>C (p.Glu75Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112450408G= | CA2063740325 | PTPN11 | c.228G= (p.Glu76=) c.225G= (p.Glu75=) | |
| 12 | g.112450408G>T | CA261580 | PTPN11 | c.228G>T (p.Glu76Asp) c.225G>T (p.Glu75Asp) | ClinVar dbSNP |
| 12 | g.112450409T>A | CA386777897 | PTPN11 | c.229T>A (p.Leu77Met) c.226T>A (p.Leu76Met) | dbSNP |
| 12 | g.112450409T>C | CA481881808 | PTPN11 | c.229T>C (p.Leu77=) c.226T>C (p.Leu76=) | dbSNP |
| 12 | g.112450409T>G | CA386777899 | PTPN11 | c.229T>G (p.Leu77Val) c.226T>G (p.Leu76Val) | dbSNP COSMIC |