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.112450263A>T | CA2575298787 | PTPN11 | c.138-55A>T (n.138-55A>T) c.138-58A>T (n.138-58A>T) | dbSNP gnomAD v4 |
| 12 | g.112450264C>A | CA2621021505 | PTPN11 | c.138-54C>A (n.138-54C>A) c.138-57C>A (n.138-57C>A) | gnomAD v4 |
| 12 | g.112450264C>G | CA2727225838 | PTPN11 | c.138-54C>G (n.138-54C>G) c.138-57C>G (n.138-57C>G) | dbSNP |
| 12 | g.112450264C>T | CA2727225836 | PTPN11 | c.138-54C>T (n.138-54C>T) c.138-57C>T (n.138-57C>T) | dbSNP |
| 12 | g.112450266G>A | CA2621021506 | PTPN11 | c.138-52G>A (n.138-52G>A) c.138-55G>A (n.138-55G>A) | dbSNP gnomAD v4 |
| 12 | g.112450266G>C | CA2727225928 | PTPN11 | c.138-52G>C (n.138-52G>C) c.138-55G>C (n.138-55G>C) | dbSNP |
| 12 | g.112450266G>T | CA2621021507 | PTPN11 | c.138-52G>T (n.138-52G>T) c.138-55G>T (n.138-55G>T) | dbSNP gnomAD v4 |
| 12 | g.112450267G>A | CA2727226017 | PTPN11 | c.138-51G>A (n.138-51G>A) c.138-54G>A (n.138-54G>A) | dbSNP |
| 12 | g.112450267G>C | CA2727226018 | PTPN11 | c.138-51G>C (n.138-51G>C) c.138-54G>C (n.138-54G>C) | dbSNP |
| 12 | g.112450267G>T | CA2727226016 | PTPN11 | c.138-51G>T (n.138-51G>T) c.138-54G>T (n.138-54G>T) | dbSNP |
| 12 | g.112450268T>A | CA2727226020 | PTPN11 | c.138-50T>A (n.138-50T>A) c.138-53T>A (n.138-53T>A) | dbSNP |
| 12 | g.112450268T>C | CA2621021508 | PTPN11 | c.138-50T>C (n.138-50T>C) c.138-53T>C (n.138-53T>C) | dbSNP gnomAD v4 |
| 12 | g.112450269G>A | CA683676164 | PTPN11 | c.138-49G>A (n.138-49G>A) c.138-52G>A (n.138-52G>A) | dbSNP gnomAD v4 |
| 12 | g.112450269G= | CA2063739843 | PTPN11 | c.138-49G= (n.138-49G=) c.138-52G= (n.138-52G=) | |
| 12 | g.112450269G>T | CA243707915 | PTPN11 | c.138-49G>T (n.138-49G>T) c.138-52G>T (n.138-52G>T) | dbSNP gnomAD v4 |
| 12 | g.112450270T>A | CA2575298788 | PTPN11 | c.138-48T>A (n.138-48T>A) c.138-51T>A (n.138-51T>A) | |
| 12 | g.112450270T>C | CA2575298789 | PTPN11 | c.138-48T>C (n.138-48T>C) c.138-51T>C (n.138-51T>C) | |
| 12 | g.112450271A>G | CA2575298790 | PTPN11 | c.138-47A>G (n.138-47A>G) c.138-50A>G (n.138-50A>G) | |
| 12 | g.112450271A>T | CA2727226353 | PTPN11 | c.138-47A>T (n.138-47A>T) c.138-50A>T (n.138-50A>T) | dbSNP |
| 12 | g.112450272del | CA2727226351 | PTPN11 | c.138-46del (n.138-46del) c.138-49del (n.138-49del) | dbSNP |
| 12 | g.112450272A>T | CA2727226376 | PTPN11 | c.138-46A>T (n.138-46A>T) c.138-49A>T (n.138-49A>T) | dbSNP |
| 12 | g.112450273C>G | CA2727226509 | PTPN11 | c.138-45C>G (n.138-45C>G) c.138-48C>G (n.138-48C>G) | dbSNP |
| 12 | g.112450274T>C | CA2727226587 | PTPN11 | c.138-44T>C (n.138-44T>C) c.138-47T>C (n.138-47T>C) | dbSNP |
| 12 | g.112450275_112450278del | CA2621021515 | PTPN11 | c.138-43_138-40del (n.138-43_138-40del) c.138-46_138-43del (n.138-46_138-43del) | gnomAD v4 |
| 12 | g.112450275C>A | CA2506922866 | PTPN11 | c.138-43C>A (n.138-43C>A) c.138-46C>A (n.138-46C>A) | dbSNP |
| 12 | g.112450275C>G | CA2727226866 | PTPN11 | c.138-43C>G (n.138-43C>G) c.138-46C>G (n.138-46C>G) | dbSNP |
| 12 | g.112450275C>T | CA2727227122 | PTPN11 | c.138-43C>T (n.138-43C>T) c.138-46C>T (n.138-46C>T) | dbSNP |
| 12 | g.112450276T>A | CA2727227125 | PTPN11 | c.138-42T>A (n.138-42T>A) c.138-45T>A (n.138-45T>A) | dbSNP |
| 12 | g.112450277_112450278del | CA2621021517 | PTPN11 | c.138-41_138-40del (n.138-41_138-40del) c.138-44_138-43del (n.138-44_138-43del) | gnomAD v4 |
| 12 | g.112450277T>C | CA2727227243 | PTPN11 | c.138-41T>C (n.138-41T>C) c.138-44T>C (n.138-44T>C) | dbSNP |
| 12 | g.112450277T>G | CA2575298791 | PTPN11 | c.138-41T>G (n.138-41T>G) c.138-44T>G (n.138-44T>G) | |
| 12 | g.112450279del | CA2575298792 | PTPN11 | c.138-39del (n.138-39del) c.138-42del (n.138-42del) | gnomAD v4 |
| 12 | g.112450281T>C | CA2727227350 | PTPN11 | c.138-37T>C (n.138-37T>C) c.138-40T>C (n.138-40T>C) | dbSNP |
| 12 | g.112450282T>C | CA2727227401 | PTPN11 | c.138-36T>C (n.138-36T>C) c.138-39T>C (n.138-39T>C) | dbSNP |
| 12 | g.112450283G>A | CA2575298793 | PTPN11 | c.138-35G>A (n.138-35G>A) c.138-38G>A (n.138-38G>A) | dbSNP |
| 12 | g.112450283G>C | CA2727227490 | PTPN11 | c.138-35G>C (n.138-35G>C) c.138-38G>C (n.138-38G>C) | dbSNP |
| 12 | g.112450283G>T | CA2727227494 | PTPN11 | c.138-35G>T (n.138-35G>T) c.138-38G>T (n.138-38G>T) | dbSNP |
| 12 | g.112450284T>A | CA2727227498 | PTPN11 | c.138-34T>A (n.138-34T>A) c.138-37T>A (n.138-37T>A) | dbSNP |
| 12 | g.112450284T>C | CA2727227497 | PTPN11 | c.138-34T>C (n.138-34T>C) c.138-37T>C (n.138-37T>C) | dbSNP |
| 12 | g.112450284_112450285delinsTC | CA2063739847 | PTPN11 | c.138-34_138-33delinsTC (n.138-34_138-33delinsTC) c.138-37_138-36delinsTC (n.138-37_138-36delinsTC) | |
| 12 | g.112450285C>A | CA2621021519 | PTPN11 | c.138-33C>A (n.138-33C>A) c.138-36C>A (n.138-36C>A) | dbSNP gnomAD v4 |
| 12 | g.112450285C>G | CA2727227567 | PTPN11 | c.138-33C>G (n.138-33C>G) c.138-36C>G (n.138-36C>G) | dbSNP |
| 12 | g.112450285C>T | CA2727227561 | PTPN11 | c.138-33C>T (n.138-33C>T) c.138-36C>T (n.138-36C>T) | dbSNP |
| 12 | g.112450288del | CA243707916 | PTPN11 | c.138-30del (n.138-30del) c.138-33del (n.138-33del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450286C>A | CA2621021521 | PTPN11 | c.138-32C>A (n.138-32C>A) c.138-35C>A (n.138-35C>A) | dbSNP gnomAD v4 |
| 12 | g.112450286C>T | CA2621021522 | PTPN11 | c.138-32C>T (n.138-32C>T) c.138-35C>T (n.138-35C>T) | dbSNP gnomAD v4 |
| 12 | g.112450287C>A | CA2727057602 | PTPN11 | c.138-31C>A (n.138-31C>A) c.138-34C>A (n.138-34C>A) | dbSNP |
| 12 | g.112450287C= | CA2063739855 | PTPN11 | c.138-31C= (n.138-31C=) c.138-34C= (n.138-34C=) | |
| 12 | g.112450287C>G | CA6798524 | PTPN11 | c.138-31C>G (n.138-31C>G) c.138-34C>G (n.138-34C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450287C>T | CA2621021526 | PTPN11 | c.138-31C>T (n.138-31C>T) c.138-34C>T (n.138-34C>T) | dbSNP gnomAD v4 |
| 12 | g.112450288C>A | CA2727227573 | PTPN11 | c.138-30C>A (n.138-30C>A) c.138-33C>A (n.138-33C>A) | dbSNP |
| 12 | g.112450288C>T | CA2727227574 | PTPN11 | c.138-30C>T (n.138-30C>T) c.138-33C>T (n.138-33C>T) | dbSNP |
| 12 | g.112450289T>G | CA2727227757 | PTPN11 | c.138-29T>G (n.138-29T>G) c.138-32T>G (n.138-32T>G) | dbSNP |
| 12 | g.112450290T>A | CA2727227892 | PTPN11 | c.138-28T>A (n.138-28T>A) c.138-31T>A (n.138-31T>A) | dbSNP |
| 12 | g.112450290T>C | CA2621021528 | PTPN11 | c.138-28T>C (n.138-28T>C) c.138-31T>C (n.138-31T>C) | gnomAD v4 |
| 12 | g.112450291G>A | CA2727227896 | PTPN11 | c.138-27G>A (n.138-27G>A) c.138-30G>A (n.138-30G>A) | dbSNP |
| 12 | g.112450291G>C | CA2727227895 | PTPN11 | c.138-27G>C (n.138-27G>C) c.138-30G>C (n.138-30G>C) | dbSNP |
| 12 | g.112450291G>T | CA2727227975 | PTPN11 | c.138-27G>T (n.138-27G>T) c.138-30G>T (n.138-30G>T) | dbSNP |
| 12 | g.112450292C>A | CA2621021529 | PTPN11 | c.138-26C>A (n.138-26C>A) c.138-29C>A (n.138-29C>A) | gnomAD v4 |
| 12 | g.112450292C>G | CA2727228040 | PTPN11 | c.138-26C>G (n.138-26C>G) c.138-29C>G (n.138-29C>G) | dbSNP |
| 12 | g.112450292C>T | CA2727227978 | PTPN11 | c.138-26C>T (n.138-26C>T) c.138-29C>T (n.138-29C>T) | dbSNP |
| 12 | g.112450293C>T | CA2727228044 | PTPN11 | c.138-25C>T (n.138-25C>T) c.138-28C>T (n.138-28C>T) | dbSNP |
| 12 | g.112450294T>C | CA2621021531 | PTPN11 | c.138-24T>C (n.138-24T>C) c.138-27T>C (n.138-27T>C) | dbSNP gnomAD v4 |
| 12 | g.112450295C= | CA2063739858 | PTPN11 | c.138-23C= (n.138-23C=) c.138-26C= (n.138-26C=) | |
| 12 | g.112450295C>G | CA607604916 | PTPN11 | c.138-23C>G (n.138-23C>G) c.138-26C>G (n.138-26C>G) | dbSNP gnomAD v2 |
| 12 | g.112450295C>T | CA607604917 | PTPN11 | c.138-23C>T (n.138-23C>T) c.138-26C>T (n.138-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450296C= | CA2063739859 | PTPN11 | c.138-22C= (n.138-22C=) c.138-25C= (n.138-25C=) | |
| 12 | g.112450296C>G | CA2063739860 | PTPN11 | c.138-22C>G (n.138-22C>G) c.138-25C>G (n.138-25C>G) | dbSNP |
| 12 | g.112450296C>T | CA951924897 | PTPN11 | c.138-22C>T (n.138-22C>T) c.138-25C>T (n.138-25C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112450298T>A | CA2727228195 | PTPN11 | c.138-20T>A (n.138-20T>A) c.138-23T>A (n.138-23T>A) | dbSNP |
| 12 | g.112450298T>C | CA2727228193 | PTPN11 | c.138-20T>C (n.138-20T>C) c.138-23T>C (n.138-23T>C) | dbSNP |
| 12 | g.112450299T>C | CA2727228225 | PTPN11 | c.138-19T>C (n.138-19T>C) c.138-22T>C (n.138-22T>C) | dbSNP |
| 12 | g.112450300T>C | CA2727228263 | PTPN11 | c.138-18T>C (n.138-18T>C) c.138-21T>C (n.138-21T>C) | dbSNP |
| 12 | g.112450301C>A | CA2727228270 | PTPN11 | c.138-17C>A (n.138-17C>A) c.138-20C>A (n.138-20C>A) | dbSNP |
| 12 | g.112450301C>G | CA2727228264 | PTPN11 | c.138-17C>G (n.138-17C>G) c.138-20C>G (n.138-20C>G) | dbSNP |
| 12 | g.112450301C>T | CA2727228269 | PTPN11 | c.138-17C>T (n.138-17C>T) c.138-20C>T (n.138-20C>T) | dbSNP |
| 12 | g.112450302C>T | CA2621021535 | PTPN11 | c.138-16C>T (n.138-16C>T) c.138-19C>T (n.138-19C>T) | dbSNP gnomAD v4 |
| 12 | g.112450303A>T | CA2727228376 | PTPN11 | c.138-15A>T (n.138-15A>T) c.138-18A>T (n.138-18A>T) | dbSNP |
| 12 | g.112450304A>T | CA2727228379 | PTPN11 | c.138-14A>T (n.138-14A>T) c.138-17A>T (n.138-17A>T) | dbSNP |
| 12 | g.112450306G>A | CA2580085814 | PTPN11 | c.138-12G>A (n.138-12G>A) c.138-15G>A (n.138-15G>A) | ClinVar |
| 12 | g.112450307del | CA2575298794 | PTPN11 | c.138-11del (n.138-11del) c.138-14del (n.138-14del) | gnomAD v4 |
| 12 | g.112450307G>A | CA2727228485 | PTPN11 | c.138-11G>A (n.138-11G>A) c.138-14G>A (n.138-14G>A) | dbSNP |
| 12 | g.112450307G>C | CA2727228479 | PTPN11 | c.138-11G>C (n.138-11G>C) c.138-14G>C (n.138-14G>C) | dbSNP |
| 12 | g.112450307G>T | CA2727228380 | PTPN11 | c.138-11G>T (n.138-11G>T) c.138-14G>T (n.138-14G>T) | dbSNP |
| 12 | g.112450308A>T | CA2575298795 | PTPN11 | c.138-10A>T (n.138-10A>T) c.138-13A>T (n.138-13A>T) | dbSNP gnomAD v4 |
| 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 |