Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477533_112477627del | CA2621024323 | PTPN11 | c.854-118_854-24del (n.854-118_854-24del) c.740-118_740-24del (n.740-118_740-24del) c.851-118_851-24del (n.851-118_851-24del) | gnomAD v4 |
12 | g.112477588T>A | CA683695372 | PTPN11 | c.854-63T>A (n.854-63T>A) c.740-63T>A (n.740-63T>A) c.851-63T>A (n.851-63T>A) | dbSNP |
12 | g.112477588T>C | CA2621024428 | PTPN11 | c.854-63T>C (n.854-63T>C) c.740-63T>C (n.740-63T>C) c.851-63T>C (n.851-63T>C) | gnomAD v4 |
12 | g.112477588T>G | CA2621024430 | PTPN11 | c.854-63T>G (n.854-63T>G) c.740-63T>G (n.740-63T>G) c.851-63T>G (n.851-63T>G) | gnomAD v4 |
12 | g.112477588T= | CA2063775555 | PTPN11 | c.854-63T= (n.854-63T=) c.740-63T= (n.740-63T=) c.851-63T= (n.851-63T=) | |
12 | g.112477589T>A | CA2063775558 | PTPN11 | c.854-62T>A (n.854-62T>A) c.740-62T>A (n.740-62T>A) c.851-62T>A (n.851-62T>A) | dbSNP gnomAD v4 |
12 | g.112477589T>C | CA2621024432 | PTPN11 | c.854-62T>C (n.854-62T>C) c.740-62T>C (n.740-62T>C) c.851-62T>C (n.851-62T>C) | gnomAD v4 |
12 | g.112477589T= | CA2063775557 | PTPN11 | c.854-62T= (n.854-62T=) c.740-62T= (n.740-62T=) c.851-62T= (n.851-62T=) | |
12 | g.112477590T>C | CA2621024435 | PTPN11 | c.854-61T>C (n.854-61T>C) c.740-61T>C (n.740-61T>C) c.851-61T>C (n.851-61T>C) | gnomAD v4 |
12 | g.112477590T>G | CA2621024437 | PTPN11 | c.854-61T>G (n.854-61T>G) c.740-61T>G (n.740-61T>G) c.851-61T>G (n.851-61T>G) | gnomAD v4 |
12 | g.112477591G>A | CA2727222056 | PTPN11 | c.854-60G>A (n.854-60G>A) c.740-60G>A (n.740-60G>A) c.851-60G>A (n.851-60G>A) | dbSNP |
12 | g.112477591G>C | CA2727222057 | PTPN11 | c.854-60G>C (n.854-60G>C) c.740-60G>C (n.740-60G>C) c.851-60G>C (n.851-60G>C) | dbSNP |
12 | g.112477591G>T | CA2621024439 | PTPN11 | c.854-60G>T (n.854-60G>T) c.740-60G>T (n.740-60G>T) c.851-60G>T (n.851-60G>T) | dbSNP gnomAD v4 |
12 | g.112477592A>C | CA2727222084 | PTPN11 | c.854-59A>C (n.854-59A>C) c.740-59A>C (n.740-59A>C) c.851-59A>C (n.851-59A>C) | dbSNP |
12 | g.112477592A>T | CA2727222133 | PTPN11 | c.854-59A>T (n.854-59A>T) c.740-59A>T (n.740-59A>T) c.851-59A>T (n.851-59A>T) | dbSNP |
12 | g.112477593A= | CA2063775561 | PTPN11 | c.854-58A= (n.854-58A=) c.740-58A= (n.740-58A=) c.851-58A= (n.851-58A=) | |
12 | g.112477593A>C | CA2621024441 | PTPN11 | c.854-58A>C (n.854-58A>C) c.740-58A>C (n.740-58A>C) c.851-58A>C (n.851-58A>C) | gnomAD v4 |
12 | g.112477593A>G | CA951950932 | PTPN11 | c.854-58A>G (n.854-58A>G) c.740-58A>G (n.740-58A>G) c.851-58A>G (n.851-58A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477593A>T | CA2727174327 | PTPN11 | c.854-58A>T (n.854-58A>T) c.740-58A>T (n.740-58A>T) c.851-58A>T (n.851-58A>T) | dbSNP |
12 | g.112477594C>A | CA2621024443 | PTPN11 | c.854-57C>A (n.854-57C>A) c.740-57C>A (n.740-57C>A) c.851-57C>A (n.851-57C>A) | dbSNP gnomAD v4 |
12 | g.112477594C>G | CA2727222138 | PTPN11 | c.854-57C>G (n.854-57C>G) c.740-57C>G (n.740-57C>G) c.851-57C>G (n.851-57C>G) | dbSNP |
12 | g.112477594C>T | CA2727222135 | PTPN11 | c.854-57C>T (n.854-57C>T) c.740-57C>T (n.740-57C>T) c.851-57C>T (n.851-57C>T) | dbSNP |
12 | g.112477595T>C | CA2727222143 | PTPN11 | c.854-56T>C (n.854-56T>C) c.740-56T>C (n.740-56T>C) c.851-56T>C (n.851-56T>C) | dbSNP |
12 | g.112477596G>C | CA243711875 | PTPN11 | c.854-55G>C (n.854-55G>C) c.740-55G>C (n.740-55G>C) c.851-55G>C (n.851-55G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477596G= | CA2063775564 | PTPN11 | c.854-55G= (n.854-55G=) c.740-55G= (n.740-55G=) c.851-55G= (n.851-55G=) | |
12 | g.112477596_112477597delinsGT | CA2063775565 | PTPN11 | c.854-55_854-54delinsGT (n.854-55_854-54delinsGT) c.740-55_740-54delinsGT (n.740-55_740-54delinsGT) c.851-55_851-54delinsGT (n.851-55_851-54delinsGT) | |
12 | g.112477597T>A | CA2063775568 | PTPN11 | c.854-54T>A (n.854-54T>A) c.740-54T>A (n.740-54T>A) c.851-54T>A (n.851-54T>A) | dbSNP |
12 | g.112477597T>C | CA2621024453 | PTPN11 | c.854-54T>C (n.854-54T>C) c.740-54T>C (n.740-54T>C) c.851-54T>C (n.851-54T>C) | gnomAD v4 |
12 | g.112477597T>G | CA2727174328 | PTPN11 | c.854-54T>G (n.854-54T>G) c.740-54T>G (n.740-54T>G) c.851-54T>G (n.851-54T>G) | dbSNP |
12 | g.112477597T= | CA2063775569 | PTPN11 | c.854-54T= (n.854-54T=) c.740-54T= (n.740-54T=) c.851-54T= (n.851-54T=) | |
12 | g.112477602dup | CA2550309175 | PTPN11 | c.854-49dup (n.854-49dup) c.740-49dup (n.740-49dup) c.851-49dup (n.851-49dup) | gnomAD v3 gnomAD v4 |
12 | g.112477602del | CA683695381 | PTPN11 | c.854-49del (n.854-49del) c.740-49del (n.740-49del) c.851-49del (n.851-49del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477598T>G | CA243711877 | PTPN11 | c.854-53T>G (n.854-53T>G) c.740-53T>G (n.740-53T>G) c.851-53T>G (n.851-53T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477598T= | CA2063775571 | PTPN11 | c.854-53T= (n.854-53T=) c.740-53T= (n.740-53T=) c.851-53T= (n.851-53T=) | |
12 | g.112477599T>G | CA2063775574 | PTPN11 | c.854-52T>G (n.854-52T>G) c.740-52T>G (n.740-52T>G) c.851-52T>G (n.851-52T>G) | dbSNP gnomAD v4 |
12 | g.112477599T= | CA2063775573 | PTPN11 | c.854-52T= (n.854-52T=) c.740-52T= (n.740-52T=) c.851-52T= (n.851-52T=) | |
12 | g.112477601T>C | CA2621024460 | PTPN11 | c.854-50T>C (n.854-50T>C) c.740-50T>C (n.740-50T>C) c.851-50T>C (n.851-50T>C) | gnomAD v4 |
12 | g.112477603C>A | CA2621024461 | PTPN11 | c.854-48C>A (n.854-48C>A) c.740-48C>A (n.740-48C>A) c.851-48C>A (n.851-48C>A) | gnomAD v4 |
12 | g.112477603C= | CA2063775575 | PTPN11 | c.854-48C= (n.854-48C=) c.740-48C= (n.740-48C=) c.851-48C= (n.851-48C=) | |
12 | g.112477603C>T | CA2063775576 | PTPN11 | c.854-48C>T (n.854-48C>T) c.740-48C>T (n.740-48C>T) c.851-48C>T (n.851-48C>T) | dbSNP gnomAD v4 |
12 | g.112477603_112477612del | CA2797498055 | PTPN11 | c.854-48_854-39del (n.854-48_854-39del) c.740-48_740-39del (n.740-48_740-39del) c.851-48_851-39del (n.851-48_851-39del) | |
12 | g.112477604C>A | CA2621024462 | PTPN11 | c.854-47C>A (n.854-47C>A) c.740-47C>A (n.740-47C>A) c.851-47C>A (n.851-47C>A) | gnomAD v4 |
12 | g.112477604C= | CA2063775578 | PTPN11 | c.854-47C= (n.854-47C=) c.740-47C= (n.740-47C=) c.851-47C= (n.851-47C=) | |
12 | g.112477604C>G | CA2063775580 | PTPN11 | c.854-47C>G (n.854-47C>G) c.740-47C>G (n.740-47C>G) c.851-47C>G (n.851-47C>G) | dbSNP gnomAD v4 |
12 | g.112477604C>T | CA2727174329 | PTPN11 | c.854-47C>T (n.854-47C>T) c.740-47C>T (n.740-47C>T) c.851-47C>T (n.851-47C>T) | dbSNP |
12 | g.112477605T>C | CA2621024465 | PTPN11 | c.854-46T>C (n.854-46T>C) c.740-46T>C (n.740-46T>C) c.851-46T>C (n.851-46T>C) | dbSNP gnomAD v4 |
12 | g.112477605T>G | CA2621024464 | PTPN11 | c.854-46T>G (n.854-46T>G) c.740-46T>G (n.740-46T>G) c.851-46T>G (n.851-46T>G) | gnomAD v4 |
12 | g.112477606G>A | CA2727222364 | PTPN11 | c.854-45G>A (n.854-45G>A) c.740-45G>A (n.740-45G>A) c.851-45G>A (n.851-45G>A) | dbSNP |
12 | g.112477606G>C | CA2727222369 | PTPN11 | c.854-45G>C (n.854-45G>C) c.740-45G>C (n.740-45G>C) c.851-45G>C (n.851-45G>C) | dbSNP |
12 | g.112477606G>T | CA2727222409 | PTPN11 | c.854-45G>T (n.854-45G>T) c.740-45G>T (n.740-45G>T) c.851-45G>T (n.851-45G>T) | dbSNP |
12 | g.112477607A>G | CA2575298908 | PTPN11 | c.854-44A>G (n.854-44A>G) c.740-44A>G (n.740-44A>G) c.851-44A>G (n.851-44A>G) | |
12 | g.112477607A>T | CA2727222424 | PTPN11 | c.854-44A>T (n.854-44A>T) c.740-44A>T (n.740-44A>T) c.851-44A>T (n.851-44A>T) | dbSNP |
12 | g.112477608A= | CA2063775582 | PTPN11 | c.854-43A= (n.854-43A=) c.740-43A= (n.740-43A=) c.851-43A= (n.851-43A=) | |
12 | g.112477608A>G | CA6798663 | PTPN11 | c.854-43A>G (n.854-43A>G) c.740-43A>G (n.740-43A>G) c.851-43A>G (n.851-43A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477608A>T | CA2727053170 | PTPN11 | c.854-43A>T (n.854-43A>T) c.740-43A>T (n.740-43A>T) c.851-43A>T (n.851-43A>T) | dbSNP |
12 | g.112477609G>A | CA2727222443 | PTPN11 | c.854-42G>A (n.854-42G>A) c.740-42G>A (n.740-42G>A) c.851-42G>A (n.851-42G>A) | dbSNP |
12 | g.112477609G>C | CA2727222485 | PTPN11 | c.854-42G>C (n.854-42G>C) c.740-42G>C (n.740-42G>C) c.851-42G>C (n.851-42G>C) | dbSNP |
12 | g.112477610C>A | CA2575298909 | PTPN11 | c.854-41C>A (n.854-41C>A) c.740-41C>A (n.740-41C>A) c.851-41C>A (n.851-41C>A) | gnomAD v4 |
12 | g.112477610C>G | CA2621024471 | PTPN11 | c.854-41C>G (n.854-41C>G) c.740-41C>G (n.740-41C>G) c.851-41C>G (n.851-41C>G) | dbSNP gnomAD v4 |
12 | g.112477610C>T | CA2727222556 | PTPN11 | c.854-41C>T (n.854-41C>T) c.740-41C>T (n.740-41C>T) c.851-41C>T (n.851-41C>T) | dbSNP |
12 | g.112477611A= | CA2063775586 | PTPN11 | c.854-40A= (n.854-40A=) c.740-40A= (n.740-40A=) c.851-40A= (n.851-40A=) | |
12 | g.112477611A>G | CA6798664 | PTPN11 | c.854-40A>G (n.854-40A>G) c.740-40A>G (n.740-40A>G) c.851-40A>G (n.851-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477612G>C | CA2727222612 | PTPN11 | c.854-39G>C (n.854-39G>C) c.740-39G>C (n.740-39G>C) c.851-39G>C (n.851-39G>C) | dbSNP |
12 | g.112477612G>T | CA2621024477 | PTPN11 | c.854-39G>T (n.854-39G>T) c.740-39G>T (n.740-39G>T) c.851-39G>T (n.851-39G>T) | gnomAD v4 |
12 | g.112477613T>A | CA2727174330 | PTPN11 | c.854-38T>A (n.854-38T>A) c.740-38T>A (n.740-38T>A) c.851-38T>A (n.851-38T>A) | dbSNP |
12 | g.112477613T>C | CA2063775592 | PTPN11 | c.854-38T>C (n.854-38T>C) c.740-38T>C (n.740-38T>C) c.851-38T>C (n.851-38T>C) | dbSNP gnomAD v4 |
12 | g.112477613T>G | CA2575298911 | PTPN11 | c.854-38T>G (n.854-38T>G) c.740-38T>G (n.740-38T>G) c.851-38T>G (n.851-38T>G) | dbSNP |
12 | g.112477613T= | CA2063775590 | PTPN11 | c.854-38T= (n.854-38T=) c.740-38T= (n.740-38T=) c.851-38T= (n.851-38T=) | |
12 | g.112477614C>A | CA2621024488 | PTPN11 | c.854-37C>A (n.854-37C>A) c.740-37C>A (n.740-37C>A) c.851-37C>A (n.851-37C>A) | gnomAD v4 |
12 | g.112477614C= | CA2063775594 | PTPN11 | c.854-37C= (n.854-37C=) c.740-37C= (n.740-37C=) c.851-37C= (n.851-37C=) | |
12 | g.112477614C>G | CA2727061519 | PTPN11 | c.854-37C>G (n.854-37C>G) c.740-37C>G (n.740-37C>G) c.851-37C>G (n.851-37C>G) | dbSNP |
12 | g.112477614C>T | CA243711878 | PTPN11 | c.854-37C>T (n.854-37C>T) c.740-37C>T (n.740-37C>T) c.851-37C>T (n.851-37C>T) | dbSNP gnomAD v4 |
12 | g.112477615C>A | CA2621024490 | PTPN11 | c.854-36C>A (n.854-36C>A) c.740-36C>A (n.740-36C>A) c.851-36C>A (n.851-36C>A) | dbSNP gnomAD v4 |
12 | g.112477615C= | CA2063775595 | PTPN11 | c.854-36C= (n.854-36C=) c.740-36C= (n.740-36C=) c.851-36C= (n.851-36C=) | |
12 | g.112477615C>G | CA2621024491 | PTPN11 | c.854-36C>G (n.854-36C>G) c.740-36C>G (n.740-36C>G) c.851-36C>G (n.851-36C>G) | gnomAD v4 |
12 | g.112477615C>T | CA2063775596 | PTPN11 | c.854-36C>T (n.854-36C>T) c.740-36C>T (n.740-36C>T) c.851-36C>T (n.851-36C>T) | dbSNP gnomAD v4 |
12 | g.112477616A= | CA2063775598 | PTPN11 | c.854-35A= (n.854-35A=) c.740-35A= (n.740-35A=) c.851-35A= (n.851-35A=) | |
12 | g.112477616A>C | CA6798665 | PTPN11 | c.854-35A>C (n.854-35A>C) c.740-35A>C (n.740-35A>C) c.851-35A>C (n.851-35A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477616A>T | CA2727058027 | PTPN11 | c.854-35A>T (n.854-35A>T) c.740-35A>T (n.740-35A>T) c.851-35A>T (n.851-35A>T) | dbSNP |
12 | g.112477617G>A | CA2727222613 | PTPN11 | c.854-34G>A (n.854-34G>A) c.740-34G>A (n.740-34G>A) c.851-34G>A (n.851-34G>A) | dbSNP |
12 | g.112477617G>C | CA2727222614 | PTPN11 | c.854-34G>C (n.854-34G>C) c.740-34G>C (n.740-34G>C) c.851-34G>C (n.851-34G>C) | dbSNP |
12 | g.112477617G>T | CA2727222656 | PTPN11 | c.854-34G>T (n.854-34G>T) c.740-34G>T (n.740-34G>T) c.851-34G>T (n.851-34G>T) | dbSNP |
12 | g.112477618G>A | CA2621024496 | PTPN11 | c.854-33G>A (n.854-33G>A) c.740-33G>A (n.740-33G>A) c.851-33G>A (n.851-33G>A) | dbSNP gnomAD v4 |
12 | g.112477618G>C | CA2727222697 | PTPN11 | c.854-33G>C (n.854-33G>C) c.740-33G>C (n.740-33G>C) c.851-33G>C (n.851-33G>C) | dbSNP |
12 | g.112477619A= | CA2063775601 | PTPN11 | c.854-32A= (n.854-32A=) c.740-32A= (n.740-32A=) c.851-32A= (n.851-32A=) | |
12 | g.112477619A>C | CA215447 | PTPN11 | c.854-32A>C (n.854-32A>C) c.740-32A>C (n.740-32A>C) c.851-32A>C (n.851-32A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477619A>T | CA2727051824 | PTPN11 | c.854-32A>T (n.854-32A>T) c.740-32A>T (n.740-32A>T) c.851-32A>T (n.851-32A>T) | dbSNP |
12 | g.112477620C>A | CA2621024499 | PTPN11 | c.854-31C>A (n.854-31C>A) c.740-31C>A (n.740-31C>A) c.851-31C>A (n.851-31C>A) | dbSNP gnomAD v4 |
12 | g.112477620C= | CA2063775603 | PTPN11 | c.854-31C= (n.854-31C=) c.740-31C= (n.740-31C=) c.851-31C= (n.851-31C=) | |
12 | g.112477620C>G | CA2727092207 | PTPN11 | c.854-31C>G (n.854-31C>G) c.740-31C>G (n.740-31C>G) c.851-31C>G (n.851-31C>G) | dbSNP |
12 | g.112477620C>T | CA607604962 | PTPN11 | c.854-31C>T (n.854-31C>T) c.740-31C>T (n.740-31C>T) c.851-31C>T (n.851-31C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.112477621T>C | CA130822 | PTPN11 | c.854-30T>C (n.854-30T>C) c.740-30T>C (n.740-30T>C) c.851-30T>C (n.851-30T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477621T= | CA2063775605 | PTPN11 | c.854-30T= (n.854-30T=) c.740-30T= (n.740-30T=) c.851-30T= (n.851-30T=) | |
12 | g.112477622T>C | CA2727222760 | PTPN11 | c.854-29T>C (n.854-29T>C) c.740-29T>C (n.740-29T>C) c.851-29T>C (n.851-29T>C) | dbSNP |
12 | g.112477623A>G | CA2727222780 | PTPN11 | c.854-28A>G (n.854-28A>G) c.740-28A>G (n.740-28A>G) c.851-28A>G (n.851-28A>G) | dbSNP |
12 | g.112477623A>T | CA2727222781 | PTPN11 | c.854-28A>T (n.854-28A>T) c.740-28A>T (n.740-28A>T) c.851-28A>T (n.851-28A>T) | dbSNP |
12 | g.112477623dup | CA2621024501 | PTPN11 | c.854-28dup (n.854-28dup) c.740-28dup (n.740-28dup) c.851-28dup (n.851-28dup) | gnomAD v4 |
12 | g.112477624T>A | CA607604964 | PTPN11 | c.854-27T>A (n.854-27T>A) c.740-27T>A (n.740-27T>A) c.851-27T>A (n.851-27T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477624T>C | CA607604966 | PTPN11 | c.854-27T>C (n.854-27T>C) c.740-27T>C (n.740-27T>C) c.851-27T>C (n.851-27T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477624T= | CA2063775607 | PTPN11 | c.854-27T= (n.854-27T=) c.740-27T= (n.740-27T=) c.851-27T= (n.851-27T=) | |
12 | g.112477625G>A | CA607604967 | PTPN11 | c.854-26G>A (n.854-26G>A) c.740-26G>A (n.740-26G>A) c.851-26G>A (n.851-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477625G>C | CA2727094909 | PTPN11 | c.854-26G>C (n.854-26G>C) c.740-26G>C (n.740-26G>C) c.851-26G>C (n.851-26G>C) | dbSNP |
12 | g.112477625G= | CA2063775609 | PTPN11 | c.854-26G= (n.854-26G=) c.740-26G= (n.740-26G=) c.851-26G= (n.851-26G=) | |
12 | g.112477626T>A | CA2727222798 | PTPN11 | c.854-25T>A (n.854-25T>A) c.740-25T>A (n.740-25T>A) c.851-25T>A (n.851-25T>A) | dbSNP |
12 | g.112477627G>A | CA2621024508 | PTPN11 | c.854-24G>A (n.854-24G>A) c.740-24G>A (n.740-24G>A) c.851-24G>A (n.851-24G>A) | gnomAD v4 |
12 | g.112477627G>C | CA2727222865 | PTPN11 | c.854-24G>C (n.854-24G>C) c.740-24G>C (n.740-24G>C) c.851-24G>C (n.851-24G>C) | dbSNP |
12 | g.112477627G>T | CA2621024509 | PTPN11 | c.854-24G>T (n.854-24G>T) c.740-24G>T (n.740-24G>T) c.851-24G>T (n.851-24G>T) | gnomAD v4 |
12 | g.112477628A>G | CA2575298931 | PTPN11 | c.854-23A>G (n.854-23A>G) c.740-23A>G (n.740-23A>G) c.851-23A>G (n.851-23A>G) | gnomAD v4 |
12 | g.112477628A>T | CA2727222879 | PTPN11 | c.854-23A>T (n.854-23A>T) c.740-23A>T (n.740-23A>T) c.851-23A>T (n.851-23A>T) | dbSNP |
12 | g.112477629C>A | CA2621024512 | PTPN11 | c.854-22C>A (n.854-22C>A) c.740-22C>A (n.740-22C>A) c.851-22C>A (n.851-22C>A) | dbSNP gnomAD v4 |
12 | g.112477629C= | CA2063775612 | PTPN11 | c.854-22C= (n.854-22C=) c.740-22C= (n.740-22C=) c.851-22C= (n.851-22C=) | |
12 | g.112477629C>G | CA2727099586 | PTPN11 | c.854-22C>G (n.854-22C>G) c.740-22C>G (n.740-22C>G) c.851-22C>G (n.851-22C>G) | dbSNP |
12 | g.112477629C>T | CA2063775611 | PTPN11 | c.854-22C>T (n.854-22C>T) c.740-22C>T (n.740-22C>T) c.851-22C>T (n.851-22C>T) | dbSNP |
12 | g.112477630C>A | CA2063775617 | PTPN11 | c.854-21C>A (n.854-21C>A) c.740-21C>A (n.740-21C>A) c.851-21C>A (n.851-21C>A) | dbSNP gnomAD v4 |
12 | g.112477630C= | CA2063775614 | PTPN11 | c.854-21C= (n.854-21C=) c.740-21C= (n.740-21C=) c.851-21C= (n.851-21C=) | |
12 | g.112477630C>G | CA6798666 | PTPN11 | c.854-21C>G (n.854-21C>G) c.740-21C>G (n.740-21C>G) c.851-21C>G (n.851-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477630C>T | CA130823 | PTPN11 | c.854-21C>T (n.854-21C>T) c.740-21C>T (n.740-21C>T) c.851-21C>T (n.851-21C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477631del | CA2621024528 | PTPN11 | c.854-20del (n.854-20del) c.740-20del (n.740-20del) c.851-20del (n.851-20del) | gnomAD v4 |
12 | g.112477631G>A | CA6798667 | PTPN11 | c.854-20G>A (n.854-20G>A) c.740-20G>A (n.740-20G>A) c.851-20G>A (n.851-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477631G>C | CA2727057125 | PTPN11 | c.854-20G>C (n.854-20G>C) c.740-20G>C (n.740-20G>C) c.851-20G>C (n.851-20G>C) | dbSNP |
12 | g.112477631G= | CA2063775620 | PTPN11 | c.854-20G= (n.854-20G=) c.740-20G= (n.740-20G=) c.851-20G= (n.851-20G=) | |
12 | g.112477631G>T | CA2621024526 | PTPN11 | c.854-20G>T (n.854-20G>T) c.740-20G>T (n.740-20G>T) c.851-20G>T (n.851-20G>T) | dbSNP gnomAD v4 |
12 | g.112477632T>A | CA2621024532 | PTPN11 | c.854-19T>A (n.854-19T>A) c.740-19T>A (n.740-19T>A) c.851-19T>A (n.851-19T>A) | gnomAD v4 |
12 | g.112477632T>C | CA2621024533 | PTPN11 | c.854-19T>C (n.854-19T>C) c.740-19T>C (n.740-19T>C) c.851-19T>C (n.851-19T>C) | gnomAD v4 |
12 | g.112477632T>G | CA6798668 | PTPN11 | c.854-19T>G (n.854-19T>G) c.740-19T>G (n.740-19T>G) c.851-19T>G (n.851-19T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477632T= | CA2063775622 | PTPN11 | c.854-19T= (n.854-19T=) c.740-19T= (n.740-19T=) c.851-19T= (n.851-19T=) | |
12 | g.112477633G>C | CA6798669 | PTPN11 | c.854-18G>C (n.854-18G>C) c.740-18G>C (n.740-18G>C) c.851-18G>C (n.851-18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477633G= | CA2063775625 | PTPN11 | c.854-18G= (n.854-18G=) c.740-18G= (n.740-18G=) c.851-18G= (n.851-18G=) | |
12 | g.112477634del | CA2621024536 | PTPN11 | c.854-17del (n.854-17del) c.740-17del (n.740-17del) c.851-17del (n.851-17del) | gnomAD v4 |
12 | g.112477634G>A | CA2575298954 | PTPN11 | c.854-17G>A (n.854-17G>A) c.740-17G>A (n.740-17G>A) c.851-17G>A (n.851-17G>A) | ClinVar dbSNP gnomAD v4 |
12 | g.112477634G>C | CA2727052761 | PTPN11 | c.854-17G>C (n.854-17G>C) c.740-17G>C (n.740-17G>C) c.851-17G>C (n.851-17G>C) | dbSNP |
12 | g.112477634G= | CA2063775627 | PTPN11 | c.854-17G= (n.854-17G=) c.740-17G= (n.740-17G=) c.851-17G= (n.851-17G=) | |
12 | g.112477634G>T | CA6798670 | PTPN11 | c.854-17G>T (n.854-17G>T) c.740-17G>T (n.740-17G>T) c.851-17G>T (n.851-17G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477635T>A | CA951951009 | PTPN11 | c.854-16T>A (n.854-16T>A) c.740-16T>A (n.740-16T>A) c.851-16T>A (n.851-16T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477635T= | CA2063775629 | PTPN11 | c.854-16T= (n.854-16T=) c.740-16T= (n.740-16T=) c.851-16T= (n.851-16T=) | |
12 | g.112477638_112477639del | CA2621024546 | PTPN11 | c.854-13_854-12del (n.854-13_854-12del) c.740-13_740-12del (n.740-13_740-12del) c.851-13_851-12del (n.851-13_851-12del) | ClinVar gnomAD v4 |
12 | g.112477636C= | CA2063775631 | PTPN11 | c.854-15C= (n.854-15C=) c.740-15C= (n.740-15C=) c.851-15C= (n.851-15C=) | |
12 | g.112477636C>G | CA2727058939 | PTPN11 | c.854-15C>G (n.854-15C>G) c.740-15C>G (n.740-15C>G) c.851-15C>G (n.851-15C>G) | dbSNP |
12 | g.112477636C>T | CA6798671 | PTPN11 | c.854-15C>T (n.854-15C>T) c.740-15C>T (n.740-15C>T) c.851-15C>T (n.851-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477637T>A | CA1139662891 | PTPN11 | c.854-14T>A (n.854-14T>A) c.740-14T>A (n.740-14T>A) c.851-14T>A (n.851-14T>A) | ClinVar dbSNP gnomAD v4 |
12 | g.112477637T= | CA2063775636 | PTPN11 | c.854-14T= (n.854-14T=) c.740-14T= (n.740-14T=) c.851-14T= (n.851-14T=) | |
12 | g.112477638C>A | CA2727222881 | PTPN11 | c.854-13C>A (n.854-13C>A) c.740-13C>A (n.740-13C>A) c.851-13C>A (n.851-13C>A) | dbSNP |
12 | g.112477639T>A | CA2727222963 | PTPN11 | c.854-12T>A (n.854-12T>A) c.740-12T>A (n.740-12T>A) c.851-12T>A (n.851-12T>A) | dbSNP |
12 | g.112477639T>C | CA2727223071 | PTPN11 | c.854-12T>C (n.854-12T>C) c.740-12T>C (n.740-12T>C) c.851-12T>C (n.851-12T>C) | dbSNP |
12 | g.112477639T>G | CA2727223072 | PTPN11 | c.854-12T>G (n.854-12T>G) c.740-12T>G (n.740-12T>G) c.851-12T>G (n.851-12T>G) | dbSNP |
12 | g.112477643del | CA2575298955 | PTPN11 | c.854-8del (n.854-8del) c.740-8del (n.740-8del) c.851-8del (n.851-8del) | gnomAD v4 |
12 | g.112477641T>C | CA683695435 | PTPN11 | c.854-10T>C (n.854-10T>C) c.740-10T>C (n.740-10T>C) c.851-10T>C (n.851-10T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477641T= | CA2063775639 | PTPN11 | c.854-10T= (n.854-10T=) c.740-10T= (n.740-10T=) c.851-10T= (n.851-10T=) | |
12 | g.112477642T>C | CA2063775642 | PTPN11 | c.854-9T>C (n.854-9T>C) c.740-9T>C (n.740-9T>C) c.851-9T>C (n.851-9T>C) | dbSNP gnomAD v4 |
12 | g.112477642T= | CA2063775641 | PTPN11 | c.854-9T= (n.854-9T=) c.740-9T= (n.740-9T=) c.851-9T= (n.851-9T=) | |
12 | g.112477643T>C | CA6798672 | PTPN11 | c.854-8T>C (n.854-8T>C) c.740-8T>C (n.740-8T>C) c.851-8T>C (n.851-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477643T= | CA2063775644 | PTPN11 | c.854-8T= (n.854-8T=) c.740-8T= (n.740-8T=) c.851-8T= (n.851-8T=) | |
12 | g.112477644C>G | CA2727223073 | PTPN11 | c.854-7C>G (n.854-7C>G) c.740-7C>G (n.740-7C>G) c.851-7C>G (n.851-7C>G) | dbSNP |
12 | g.112477644C>T | CA2621024553 | PTPN11 | c.854-7C>T (n.854-7C>T) c.740-7C>T (n.740-7C>T) c.851-7C>T (n.851-7C>T) | dbSNP gnomAD v4 |
12 | g.112477645T>A | CA2621024554 | PTPN11 | c.854-6T>A (n.854-6T>A) c.740-6T>A (n.740-6T>A) c.851-6T>A (n.851-6T>A) | gnomAD v4 |
12 | g.112477645T>C | CA2063775647 | PTPN11 | c.854-6T>C (n.854-6T>C) c.740-6T>C (n.740-6T>C) c.851-6T>C (n.851-6T>C) | dbSNP |
12 | g.112477645T= | CA2063775646 | PTPN11 | c.854-6T= (n.854-6T=) c.740-6T= (n.740-6T=) c.851-6T= (n.851-6T=) | |
12 | g.112477647C>A | CA2727223075 | PTPN11 | c.854-4C>A (n.854-4C>A) c.740-4C>A (n.740-4C>A) c.851-4C>A (n.851-4C>A) | dbSNP |
12 | g.112477647C>G | CA2727223112 | PTPN11 | c.854-4C>G (n.854-4C>G) c.740-4C>G (n.740-4C>G) c.851-4C>G (n.851-4C>G) | dbSNP |
12 | g.112477647C>T | CA2621024555 | PTPN11 | c.854-4C>T (n.854-4C>T) c.740-4C>T (n.740-4C>T) c.851-4C>T (n.851-4C>T) | dbSNP gnomAD v4 |
12 | g.112477649A>C | CA386790389 | PTPN11 | c.854-2A>C (n.854-2A>C) c.740-2A>C (n.740-2A>C) c.851-2A>C (n.851-2A>C) | |
12 | g.112477649A>G | CA386790391 | PTPN11 | c.854-2A>G (n.854-2A>G) c.740-2A>G (n.740-2A>G) c.851-2A>G (n.851-2A>G) | |
12 | g.112477649A>T | CA386790392 | PTPN11 | c.854-2A>T (n.854-2A>T) c.740-2A>T (n.740-2A>T) c.851-2A>T (n.851-2A>T) | dbSNP gnomAD v4 |
12 | g.112477650G>A | CA386790401 | PTPN11 | c.854-1G>A (n.854-1G>A) c.740-1G>A (n.740-1G>A) c.851-1G>A (n.851-1G>A) | |
12 | g.112477650G>C | CA386790396 | PTPN11 | c.854-1G>C (n.854-1G>C) c.740-1G>C (n.740-1G>C) c.851-1G>C (n.851-1G>C) | ClinVar dbSNP |
12 | g.112477650G= | CA2063775650 | PTPN11 | c.854-1G= (n.854-1G=) c.740-1G= (n.740-1G=) c.851-1G= (n.851-1G=) | |
12 | g.112477650G>T | CA386790398 | PTPN11 | c.854-1G>T (n.854-1G>T) c.740-1G>T (n.740-1G>T) c.851-1G>T (n.851-1G>T) | gnomAD v4 |
12 | g.112477651T>A | CA297085 | PTPN11 | c.854T>A (p.Phe285Tyr) c.740T>A (p.Phe247Tyr) c.851T>A (p.Phe284Tyr) | ClinVar dbSNP |
12 | g.112477651T>C | CA204408 | PTPN11 | c.854T>C (p.Phe285Ser) c.740T>C (p.Phe247Ser) c.851T>C (p.Phe284Ser) | ClinVar dbSNP COSMIC |
12 | g.112477651T>G | CA261603 | PTPN11 | c.854T>G (p.Phe285Cys) c.740T>G (p.Phe247Cys) c.851T>G (p.Phe284Cys) | ClinVar dbSNP |
12 | g.112477651T= | CA2063775659 | PTPN11 | c.854T= (p.Phe285=) c.740T= (p.Phe247=) c.851T= (p.Phe284=) | |
12 | g.112477652T>A | CA386790412 | PTPN11 | c.855T>A (p.Phe285Leu) c.741T>A (p.Phe247Leu) c.852T>A (p.Phe284Leu) | ClinVar dbSNP gnomAD v4 |
12 | g.112477652T>C | CA481887633 | PTPN11 | c.855T>C (p.Phe285=) c.741T>C (p.Phe247=) c.852T>C (p.Phe284=) | |
12 | g.112477652T>G | CA261606 | PTPN11 | c.855T>G (p.Phe285Leu) c.741T>G (p.Phe247Leu) c.852T>G (p.Phe284Leu) | ClinVar dbSNP |
12 | g.112477652T= | CA2063775668 | PTPN11 | c.855T= (p.Phe285=) c.741T= (p.Phe247=) c.852T= (p.Phe284=) | |
12 | g.112477653G>A | CA386790419 | PTPN11 | c.856G>A (p.Asp286Asn) c.742G>A (p.Asp248Asn) c.853G>A (p.Asp285Asn) | |
12 | g.112477653G>C | CA386790414 | PTPN11 | c.856G>C (p.Asp286His) c.742G>C (p.Asp248His) c.853G>C (p.Asp285His) | dbSNP |
12 | g.112477653G>T | CA386790416 | PTPN11 | c.856G>T (p.Asp286Tyr) c.742G>T (p.Asp248Tyr) c.853G>T (p.Asp285Tyr) | gnomAD v4 |
12 | g.112477654A>C | CA386790422 | PTPN11 | c.857A>C (p.Asp286Ala) c.743A>C (p.Asp248Ala) c.854A>C (p.Asp285Ala) | |
12 | g.112477654A>G | CA386790424 | PTPN11 | c.857A>G (p.Asp286Gly) c.743A>G (p.Asp248Gly) c.854A>G (p.Asp285Gly) | |
12 | g.112477654A>T | CA386790429 | PTPN11 | c.857A>T (p.Asp286Val) c.743A>T (p.Asp248Val) c.854A>T (p.Asp285Val) | dbSNP gnomAD v4 COSMIC |
12 | g.112477655T>A | CA134683 | PTPN11 | c.858T>A (p.Asp286Glu) c.744T>A (p.Asp248Glu) c.855T>A (p.Asp285Glu) | ClinVar dbSNP |
12 | g.112477655T>C | CA481887634 | PTPN11 | c.858T>C (p.Asp286=) c.744T>C (p.Asp248=) c.855T>C (p.Asp285=) | |
12 | g.112477655T>G | CA386790433 | PTPN11 | c.858T>G (p.Asp286Glu) c.744T>G (p.Asp248Glu) c.855T>G (p.Asp285Glu) | |
12 | g.112477655T= | CA2063775675 | PTPN11 | c.858T= (p.Asp286=) c.744T= (p.Asp248=) c.855T= (p.Asp285=) | |
12 | g.112477656C>A | CA386790436 | PTPN11 | c.859C>A (p.His287Asn) c.745C>A (p.His249Asn) c.856C>A (p.His286Asn) | gnomAD v4 |
12 | g.112477656C>G | CA386790438 | PTPN11 | c.859C>G (p.His287Asp) c.745C>G (p.His249Asp) c.856C>G (p.His286Asp) | dbSNP |
12 | g.112477656C>T | CA386790440 | PTPN11 | c.859C>T (p.His287Tyr) c.745C>T (p.His249Tyr) c.856C>T (p.His286Tyr) | dbSNP |
12 | g.112477657A= | CA2063775679 | PTPN11 | c.860A= (p.His287=) c.746A= (p.His249=) c.857A= (p.His286=) | |
12 | g.112477657A>C | CA386790444 | PTPN11 | c.860A>C (p.His287Pro) c.746A>C (p.His249Pro) c.857A>C (p.His286Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477657A>G | CA386790446 | PTPN11 | c.860A>G (p.His287Arg) c.746A>G (p.His249Arg) c.857A>G (p.His286Arg) | |
12 | g.112477657A>T | CA386790449 | PTPN11 | c.860A>T (p.His287Leu) c.746A>T (p.His249Leu) c.857A>T (p.His286Leu) | dbSNP |
12 | g.112477658T>A | CA386790453 | PTPN11 | c.861T>A (p.His287Gln) c.747T>A (p.His249Gln) c.858T>A (p.His286Gln) | |
12 | g.112477658T>C | CA243711913 | PTPN11 | c.861T>C (p.His287=) c.747T>C (p.His249=) c.858T>C (p.His286=) | ClinVar dbSNP |
12 | g.112477658T>G | CA386790455 | PTPN11 | c.861T>G (p.His287Gln) c.747T>G (p.His249Gln) c.858T>G (p.His286Gln) | |
12 | g.112477658T= | CA2063775684 | PTPN11 | c.861T= (p.His287=) c.747T= (p.His249=) c.858T= (p.His286=) | |
12 | g.112477659A>C | CA386790459 | PTPN11 | c.862A>C (p.Thr288Pro) c.748A>C (p.Thr250Pro) c.859A>C (p.Thr287Pro) | |
12 | g.112477659A>G | CA386790465 | PTPN11 | c.862A>G (p.Thr288Ala) c.748A>G (p.Thr250Ala) c.859A>G (p.Thr287Ala) | ClinVar dbSNP gnomAD v4 |
12 | g.112477659A>T | CA386790462 | PTPN11 | c.862A>T (p.Thr288Ser) c.748A>T (p.Thr250Ser) c.859A>T (p.Thr287Ser) | dbSNP |
12 | g.112477660C>A | CA386790467 | PTPN11 | c.863C>A (p.Thr288Asn) c.749C>A (p.Thr250Asn) c.860C>A (p.Thr287Asn) | dbSNP |
12 | g.112477660C>G | CA386790470 | PTPN11 | c.863C>G (p.Thr288Ser) c.749C>G (p.Thr250Ser) c.860C>G (p.Thr287Ser) | dbSNP |
12 | g.112477660C>T | CA386790473 | PTPN11 | c.863C>T (p.Thr288Ile) c.749C>T (p.Thr250Ile) c.860C>T (p.Thr287Ile) | dbSNP COSMIC |
12 | g.112477661C>A | CA481887635 | PTPN11 | c.864C>A (p.Thr288=) c.750C>A (p.Thr250=) c.861C>A (p.Thr287=) | dbSNP gnomAD v4 |
12 | g.112477661C>G | CA481887636 | PTPN11 | c.864C>G (p.Thr288=) c.750C>G (p.Thr250=) c.861C>G (p.Thr287=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477661C>T | CA481887637 | PTPN11 | c.864C>T (p.Thr288=) c.750C>T (p.Thr250=) c.861C>T (p.Thr287=) | dbSNP |
12 | g.112477662A>C | CA481887638 | PTPN11 | c.865A>C (p.Arg289=) c.751A>C (p.Arg251=) c.862A>C (p.Arg288=) | |
12 | g.112477662A>G | CA386790475 | PTPN11 | c.865A>G (p.Arg289Gly) c.751A>G (p.Arg251Gly) c.862A>G (p.Arg288Gly) | ClinVar dbSNP |
12 | g.112477662A>T | CA386790477 | PTPN11 | c.865A>T (p.Arg289Trp) c.751A>T (p.Arg251Trp) c.862A>T (p.Arg288Trp) | |
12 | g.112477663G>A | CA386790480 | PTPN11 | c.866G>A (p.Arg289Lys) c.752G>A (p.Arg251Lys) c.863G>A (p.Arg288Lys) | |
12 | g.112477663G>C | CA386790481 | PTPN11 | c.866G>C (p.Arg289Thr) c.752G>C (p.Arg251Thr) c.863G>C (p.Arg288Thr) | |
12 | g.112477663G>T | CA386790483 | PTPN11 | c.866G>T (p.Arg289Met) c.752G>T (p.Arg251Met) c.863G>T (p.Arg288Met) | |
12 | g.112477664G>A | CA481887639 | PTPN11 | c.867G>A (p.Arg289=) c.753G>A (p.Arg251=) c.864G>A (p.Arg288=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477664G>C | CA386790485 | PTPN11 | c.867G>C (p.Arg289Ser) c.753G>C (p.Arg251Ser) c.864G>C (p.Arg288Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.112477664G= | CA2063775689 | PTPN11 | c.867G= (p.Arg289=) c.753G= (p.Arg251=) c.864G= (p.Arg288=) | |
12 | g.112477664G>T | CA386790488 | PTPN11 | c.867G>T (p.Arg289Ser) c.753G>T (p.Arg251Ser) c.864G>T (p.Arg288Ser) | dbSNP gnomAD v4 |
12 | g.112477665G>A | CA386790490 | PTPN11 | c.868G>A (p.Val290Ile) c.754G>A (p.Val252Ile) c.865G>A (p.Val289Ile) | ClinVar dbSNP |
12 | g.112477665G>C | CA386790492 | PTPN11 | c.868G>C (p.Val290Leu) c.754G>C (p.Val252Leu) c.865G>C (p.Val289Leu) | ClinVar dbSNP |
12 | g.112477665G= | CA2063775693 | PTPN11 | c.868G= (p.Val290=) c.754G= (p.Val252=) c.865G= (p.Val289=) | |
12 | g.112477665G>T | CA386790495 | PTPN11 | c.868G>T (p.Val290Phe) c.754G>T (p.Val252Phe) c.865G>T (p.Val289Phe) | dbSNP |
12 | g.112477666T>A | CA386790505 | PTPN11 | c.869T>A (p.Val290Asp) c.755T>A (p.Val252Asp) c.866T>A (p.Val289Asp) | dbSNP |
12 | g.112477666T>C | CA386790498 | PTPN11 | c.869T>C (p.Val290Ala) c.755T>C (p.Val252Ala) c.866T>C (p.Val289Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477666T>G | CA386790502 | PTPN11 | c.869T>G (p.Val290Gly) c.755T>G (p.Val252Gly) c.866T>G (p.Val289Gly) | |
12 | g.112477666T= | CA2063775697 | PTPN11 | c.869T= (p.Val290=) c.755T= (p.Val252=) c.866T= (p.Val289=) | |
12 | g.112477667T>A | CA481887641 | PTPN11 | c.870T>A (p.Val290=) c.756T>A (p.Val252=) c.867T>A (p.Val289=) | |
12 | g.112477667T>C | CA481887642 | PTPN11 | c.870T>C (p.Val290=) c.756T>C (p.Val252=) c.867T>C (p.Val289=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477667T>G | CA481887643 | PTPN11 | c.870T>G (p.Val290=) c.756T>G (p.Val252=) c.867T>G (p.Val289=) | |
12 | g.112477667T= | CA2063775701 | PTPN11 | c.870T= (p.Val290=) c.756T= (p.Val252=) c.867T= (p.Val289=) | |
12 | g.112477668G>A | CA386790508 | PTPN11 | c.871G>A (p.Val291Ile) c.757G>A (p.Val253Ile) c.868G>A (p.Val290Ile) | dbSNP |
12 | g.112477668G>C | CA386790511 | PTPN11 | c.871G>C (p.Val291Leu) c.757G>C (p.Val253Leu) c.868G>C (p.Val290Leu) | dbSNP |
12 | g.112477668G>T | CA386790512 | PTPN11 | c.871G>T (p.Val291Phe) c.757G>T (p.Val253Phe) c.868G>T (p.Val290Phe) | |
12 | g.112477669T>A | CA386790517 | PTPN11 | c.872T>A (p.Val291Asp) c.758T>A (p.Val253Asp) c.869T>A (p.Val290Asp) | dbSNP |
12 | g.112477669T>C | CA386790520 | PTPN11 | c.872T>C (p.Val291Ala) c.758T>C (p.Val253Ala) c.869T>C (p.Val290Ala) | |
12 | g.112477669T>G | CA386790522 | PTPN11 | c.872T>G (p.Val291Gly) c.758T>G (p.Val253Gly) c.869T>G (p.Val290Gly) | |
12 | g.112477670C>A | CA481887644 | PTPN11 | c.873C>A (p.Val291=) c.759C>A (p.Val253=) c.870C>A (p.Val290=) | |
12 | g.112477670C>G | CA481887645 | PTPN11 | c.873C>G (p.Val291=) c.759C>G (p.Val253=) c.870C>G (p.Val290=) | dbSNP |
12 | g.112477670C>T | CA481887646 | PTPN11 | c.873C>T (p.Val291=) c.759C>T (p.Val253=) c.870C>T (p.Val290=) | dbSNP |
12 | g.112477671C>A | CA386790525 | PTPN11 | c.874C>A (p.Leu292Ile) c.760C>A (p.Leu254Ile) c.871C>A (p.Leu291Ile) | dbSNP |
12 | g.112477671C= | CA2063775707 | PTPN11 | c.874C= (p.Leu292=) c.760C= (p.Leu254=) c.871C= (p.Leu291=) | |
12 | g.112477671C>G | CA386790528 | PTPN11 | c.874C>G (p.Leu292Val) c.760C>G (p.Leu254Val) c.871C>G (p.Leu291Val) | |
12 | g.112477671C>T | CA243711914 | PTPN11 | c.874C>T (p.Leu292=) c.760C>T (p.Leu254=) c.871C>T (p.Leu291=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477672T>A | CA386790531 | PTPN11 | c.875T>A (p.Leu292Gln) c.761T>A (p.Leu254Gln) c.872T>A (p.Leu291Gln) | |
12 | g.112477672T>C | CA386790533 | PTPN11 | c.875T>C (p.Leu292Pro) c.761T>C (p.Leu254Pro) c.872T>C (p.Leu291Pro) | gnomAD v4 |
12 | g.112477672T>G | CA386790534 | PTPN11 | c.875T>G (p.Leu292Arg) c.761T>G (p.Leu254Arg) c.872T>G (p.Leu291Arg) | |
12 | g.112477673A>C | CA481887647 | PTPN11 | c.876A>C (p.Leu292=) c.762A>C (p.Leu254=) c.873A>C (p.Leu291=) | dbSNP |
12 | g.112477673A>G | CA481887648 | PTPN11 | c.876A>G (p.Leu292=) c.762A>G (p.Leu254=) c.873A>G (p.Leu291=) | gnomAD v4 |
12 | g.112477673A>T | CA481887649 | PTPN11 | c.876A>T (p.Leu292=) c.762A>T (p.Leu254=) c.873A>T (p.Leu291=) | dbSNP |
12 | g.112477674C>A | CA386790543 | PTPN11 | c.877C>A (p.His293Asn) c.763C>A (p.His255Asn) c.874C>A (p.His292Asn) | dbSNP |
12 | g.112477674C= | CA2063775714 | PTPN11 | c.877C= (p.His293=) c.763C= (p.His255=) c.874C= (p.His292=) | |
12 | g.112477674C>G | CA386790539 | PTPN11 | c.877C>G (p.His293Asp) c.763C>G (p.His255Asp) c.874C>G (p.His292Asp) | dbSNP |
12 | g.112477674C>T | CA386790541 | PTPN11 | c.877C>T (p.His293Tyr) c.763C>T (p.His255Tyr) c.874C>T (p.His292Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477675A>C | CA386790547 | PTPN11 | c.878A>C (p.His293Pro) c.764A>C (p.His255Pro) c.875A>C (p.His292Pro) | |
12 | g.112477675A>G | CA386790550 | PTPN11 | c.878A>G (p.His293Arg) c.764A>G (p.His255Arg) c.875A>G (p.His292Arg) | |
12 | g.112477675A>T | CA386790549 | PTPN11 | c.878A>T (p.His293Leu) c.764A>T (p.His255Leu) c.875A>T (p.His292Leu) | dbSNP |
12 | g.112477676C>A | CA386790553 | PTPN11 | c.879C>A (p.His293Gln) c.765C>A (p.His255Gln) c.876C>A (p.His292Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.112477676C= | CA2063775718 | PTPN11 | c.879C= (p.His293=) c.765C= (p.His255=) c.876C= (p.His292=) | |
12 | g.112477676C>G | CA6798673 | PTPN11 | c.879C>G (p.His293Gln) c.765C>G (p.His255Gln) c.876C>G (p.His292Gln) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.112477676C>T | CA282101 | PTPN11 | c.879C>T (p.His293=) c.765C>T (p.His255=) c.876C>T (p.His292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477677G>A | CA243711916 | PTPN11 | c.880G>A (p.Asp294Asn) c.766G>A (p.Asp256Asn) c.877G>A (p.Asp293Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477677G>C | CA386790562 | PTPN11 | c.880G>C (p.Asp294His) c.766G>C (p.Asp256His) c.877G>C (p.Asp293His) | dbSNP |
12 | g.112477677G= | CA2063775726 | PTPN11 | c.880G= (p.Asp294=) c.766G= (p.Asp256=) c.877G= (p.Asp293=) | |
12 | g.112477677G>T | CA243711919 | PTPN11 | c.880G>T (p.Asp294Tyr) c.766G>T (p.Asp256Tyr) c.877G>T (p.Asp293Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477678A= | CA2063775731 | PTPN11 | c.881A= (p.Asp294=) c.767A= (p.Asp256=) c.878A= (p.Asp293=) | |
12 | g.112477678A>C | CA386790568 | PTPN11 | c.881A>C (p.Asp294Ala) c.767A>C (p.Asp256Ala) c.878A>C (p.Asp293Ala) | |
12 | g.112477678A>G | CA6798674 | PTPN11 | c.881A>G (p.Asp294Gly) c.767A>G (p.Asp256Gly) c.878A>G (p.Asp293Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477678A>T | CA386790571 | PTPN11 | c.881A>T (p.Asp294Val) c.767A>T (p.Asp256Val) c.878A>T (p.Asp293Val) | dbSNP |
12 | g.112477679T>A | CA386790577 | PTPN11 | c.882T>A (p.Asp294Glu) c.768T>A (p.Asp256Glu) c.879T>A (p.Asp293Glu) | |
12 | g.112477679T>C | CA481887652 | PTPN11 | c.882T>C (p.Asp294=) c.768T>C (p.Asp256=) c.879T>C (p.Asp293=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477679T>G | CA386790574 | PTPN11 | c.882T>G (p.Asp294Glu) c.768T>G (p.Asp256Glu) c.879T>G (p.Asp293Glu) | gnomAD v4 |
12 | g.112477679T= | CA2063775734 | PTPN11 | c.882T= (p.Asp294=) c.768T= (p.Asp256=) c.879T= (p.Asp293=) | |
12 | g.112477680G>A | CA386790578 | PTPN11 | c.883G>A (p.Gly295Ser) c.769G>A (p.Gly257Ser) c.880G>A (p.Gly294Ser) | dbSNP |
12 | g.112477680G>C | CA386790579 | PTPN11 | c.883G>C (p.Gly295Arg) c.769G>C (p.Gly257Arg) c.880G>C (p.Gly294Arg) | dbSNP |
12 | g.112477680G>T | CA386790580 | PTPN11 | c.883G>T (p.Gly295Cys) c.769G>T (p.Gly257Cys) c.880G>T (p.Gly294Cys) | |
12 | g.112477681G>A | CA386790582 | PTPN11 | c.884G>A (p.Gly295Asp) c.770G>A (p.Gly257Asp) c.881G>A (p.Gly294Asp) | dbSNP |
12 | g.112477681G>C | CA386790583 | PTPN11 | c.884G>C (p.Gly295Ala) c.770G>C (p.Gly257Ala) c.881G>C (p.Gly294Ala) | dbSNP |
12 | g.112477681G>T | CA386790585 | PTPN11 | c.884G>T (p.Gly295Val) c.770G>T (p.Gly257Val) c.881G>T (p.Gly294Val) | dbSNP |
12 | g.112477682T>A | CA481887656 | PTPN11 | c.885T>A (p.Gly295=) c.771T>A (p.Gly257=) c.882T>A (p.Gly294=) | dbSNP |
12 | g.112477682T>C | CA481887657 | PTPN11 | c.885T>C (p.Gly295=) c.771T>C (p.Gly257=) c.882T>C (p.Gly294=) | |
12 | g.112477682T>G | CA481887658 | PTPN11 | c.885T>G (p.Gly295=) c.771T>G (p.Gly257=) c.882T>G (p.Gly294=) | |
12 | g.112477683G>A | CA386790588 | PTPN11 | c.886G>A (p.Asp296Asn) c.772G>A (p.Asp258Asn) c.883G>A (p.Asp295Asn) | dbSNP |
12 | g.112477683G>C | CA386790591 | PTPN11 | c.886G>C (p.Asp296His) c.772G>C (p.Asp258His) c.883G>C (p.Asp295His) | dbSNP |
12 | g.112477683G>T | CA386790590 | PTPN11 | c.886G>T (p.Asp296Tyr) c.772G>T (p.Asp258Tyr) c.883G>T (p.Asp295Tyr) | |
12 | g.112477684A>C | CA386790594 | PTPN11 | c.887A>C (p.Asp296Ala) c.773A>C (p.Asp258Ala) c.884A>C (p.Asp295Ala) | |
12 | g.112477684A>G | CA386790597 | PTPN11 | c.887A>G (p.Asp296Gly) c.773A>G (p.Asp258Gly) c.884A>G (p.Asp295Gly) | dbSNP |
12 | g.112477684A>T | CA386790599 | PTPN11 | c.887A>T (p.Asp296Val) c.773A>T (p.Asp258Val) c.884A>T (p.Asp295Val) | dbSNP |
12 | g.112477685T>A | CA386790604 | PTPN11 | c.888T>A (p.Asp296Glu) c.774T>A (p.Asp258Glu) c.885T>A (p.Asp295Glu) | |
12 | g.112477685T>C | CA481887659 | PTPN11 | c.888T>C (p.Asp296=) c.774T>C (p.Asp258=) c.885T>C (p.Asp295=) | COSMIC |
12 | g.112477685T>G | CA386790606 | PTPN11 | c.888T>G (p.Asp296Glu) c.774T>G (p.Asp258Glu) c.885T>G (p.Asp295Glu) | |
12 | g.112477686C>A | CA386790609 | PTPN11 | c.889C>A (p.Pro297Thr) c.775C>A (p.Pro259Thr) c.886C>A (p.Pro296Thr) | dbSNP |
12 | g.112477686C= | CA2063775736 | PTPN11 | c.889C= (p.Pro297=) c.775C= (p.Pro259=) c.886C= (p.Pro296=) | |
12 | g.112477686C>G | CA386790612 | PTPN11 | c.889C>G (p.Pro297Ala) c.775C>G (p.Pro259Ala) c.886C>G (p.Pro296Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477686C>T | CA386790615 | PTPN11 | c.889C>T (p.Pro297Ser) c.775C>T (p.Pro259Ser) c.886C>T (p.Pro296Ser) | dbSNP |
12 | g.112477687C>A | CA386790619 | PTPN11 | c.890C>A (p.Pro297His) c.776C>A (p.Pro259His) c.887C>A (p.Pro296His) | dbSNP |
12 | g.112477687C>G | CA386790621 | PTPN11 | c.890C>G (p.Pro297Arg) c.776C>G (p.Pro259Arg) c.887C>G (p.Pro296Arg) | dbSNP |
12 | g.112477687C>T | CA386790624 | PTPN11 | c.890C>T (p.Pro297Leu) c.776C>T (p.Pro259Leu) c.887C>T (p.Pro296Leu) | dbSNP |
12 | g.112477688C>A | CA481887660 | PTPN11 | c.891C>A (p.Pro297=) c.777C>A (p.Pro259=) c.888C>A (p.Pro296=) | dbSNP |
12 | g.112477688C>G | CA481887662 | PTPN11 | c.891C>G (p.Pro297=) c.777C>G (p.Pro259=) c.888C>G (p.Pro296=) | dbSNP |
12 | g.112477688C>T | CA481887664 | PTPN11 | c.891C>T (p.Pro297=) c.777C>T (p.Pro259=) c.888C>T (p.Pro296=) | dbSNP |