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 |
|---|---|---|---|---|---|
| 5 | g.135028834T>A | CA361027292 | PITX1 | c.890A>T (p.Tyr297Phe) | |
| 5 | g.135028834T>C | CA361027293 | PITX1 | c.890A>G (p.Tyr297Cys) | COSMIC |
| 5 | g.135028834T>G | CA361027294 | PITX1 | c.890A>C (p.Tyr297Ser) | gnomAD v4 |
| 5 | g.135028835A= | CA1584338797 | PITX1 | c.889T= (p.Tyr297=) | |
| 5 | g.135028835A>C | CA361027295 | PITX1 | c.889T>G (p.Tyr297Asp) | |
| 5 | g.135028835A>G | CA361027296 | PITX1 | c.889T>C (p.Tyr297His) | |
| 5 | g.135028835A>T | CA361027297 | PITX1 | c.889T>A (p.Tyr297Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028836G>A | CA446781737 | PITX1 | c.888C>T (p.Gly296=) | dbSNP gnomAD v2 |
| 5 | g.135028836G>C | CA446781733 | PITX1 | c.888C>G (p.Gly296=) | |
| 5 | g.135028836G= | CA1584338799 | PITX1 | c.888C= (p.Gly296=) | |
| 5 | g.135028836G>T | CA446781735 | PITX1 | c.888C>A (p.Gly296=) | |
| 5 | g.135028837C>A | CA361027300 | PITX1 | c.887G>T (p.Gly296Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028837C= | CA1584338803 | PITX1 | c.887G= (p.Gly296=) | |
| 5 | g.135028837C>G | CA361027299 | PITX1 | c.887G>C (p.Gly296Ala) | |
| 5 | g.135028837C>T | CA361027298 | PITX1 | c.887G>A (p.Gly296Asp) | gnomAD v4 |
| 5 | g.135028838C>A | CA361027303 | PITX1 | c.886G>T (p.Gly296Cys) | |
| 5 | g.135028838C>G | CA361027301 | PITX1 | c.886G>C (p.Gly296Arg) | |
| 5 | g.135028838C>T | CA361027302 | PITX1 | c.886G>A (p.Gly296Ser) | |
| 5 | g.135028839A= | CA1584338806 | PITX1 | c.885T= (p.Phe295=) | |
| 5 | g.135028839A>C | CA361027304 | PITX1 | c.885T>G (p.Phe295Leu) | |
| 5 | g.135028839A>G | CA446781748 | PITX1 | c.885T>C (p.Phe295=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028839A>T | CA361027305 | PITX1 | c.885T>A (p.Phe295Leu) | |
| 5 | g.135028840A>C | CA361027306 | PITX1 | c.884T>G (p.Phe295Cys) | |
| 5 | g.135028840A>G | CA361027307 | PITX1 | c.884T>C (p.Phe295Ser) | gnomAD v4 |
| 5 | g.135028840A>T | CA361027308 | PITX1 | c.884T>A (p.Phe295Tyr) | gnomAD v4 |
| 5 | g.135028841A= | CA1584338811 | PITX1 | c.883T= (p.Phe295=) | |
| 5 | g.135028841A>C | CA361027309 | PITX1 | c.883T>G (p.Phe295Val) | |
| 5 | g.135028841A>G | CA3417527 | PITX1 | c.883T>C (p.Phe295Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028841A>T | CA361027310 | PITX1 | c.883T>A (p.Phe295Ile) | |
| 5 | g.135028845_135028847del | CA2675353691 | PITX1 | c.881_883del (p.Ser294del) | gnomAD v4 |
| 5 | g.135028842C>A | CA446781761 | PITX1 | c.882G>T (p.Ser294=) | |
| 5 | g.135028842C= | CA1584338815 | PITX1 | c.882G= (p.Ser294=) | |
| 5 | g.135028842C>G | CA3417528 | PITX1 | c.882G>C (p.Ser294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028842C>T | CA446781763 | PITX1 | c.882G>A (p.Ser294=) | gnomAD v4 COSMIC |
| 5 | g.135028843G>A | CA3417529 | PITX1 | c.881C>T (p.Ser294Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028843G>C | CA361027311 | PITX1 | c.881C>G (p.Ser294Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028843G= | CA1584338821 | PITX1 | c.881C= (p.Ser294=) | |
| 5 | g.135028843G>T | CA128009231 | PITX1 | c.881C>A (p.Ser294Ter) | dbSNP |
| 5 | g.135028844A>C | CA361027314 | PITX1 | c.880T>G (p.Ser294Ala) | |
| 5 | g.135028844A>G | CA361027312 | PITX1 | c.880T>C (p.Ser294Pro) | |
| 5 | g.135028844A>T | CA361027313 | PITX1 | c.880T>A (p.Ser294Thr) | |
| 5 | g.135028845C>A | CA446781778 | PITX1 | c.879G>T (p.Ser293=) | gnomAD v4 |
| 5 | g.135028845C= | CA1584338825 | PITX1 | c.879G= (p.Ser293=) | |
| 5 | g.135028845C>G | CA3417530 | PITX1 | c.879G>C (p.Ser293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028845C>T | CA3417531 | PITX1 | c.879G>A (p.Ser293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028846G>A | CA361027315 | PITX1 | c.878C>T (p.Ser293Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028846G>C | CA361027316 | PITX1 | c.878C>G (p.Ser293Trp) | |
| 5 | g.135028846G= | CA1584338830 | PITX1 | c.878C= (p.Ser293=) | |
| 5 | g.135028846G>T | CA361027317 | PITX1 | c.878C>A (p.Ser293Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028847A>C | CA361027318 | PITX1 | c.877T>G (p.Ser293Ala) | |
| 5 | g.135028847A>G | CA361027319 | PITX1 | c.877T>C (p.Ser293Pro) | gnomAD v4 |
| 5 | g.135028847A>T | CA361027320 | PITX1 | c.877T>A (p.Ser293Thr) | |
| 5 | g.135028848G>A | CA446781790 | PITX1 | c.876C>T (p.His292=) | |
| 5 | g.135028848G>C | CA361027321 | PITX1 | c.876C>G (p.His292Gln) | |
| 5 | g.135028848G= | CA1584338832 | PITX1 | c.876C= (p.His292=) | |
| 5 | g.135028848G>T | CA128009249 | PITX1 | c.876C>A (p.His292Gln) | dbSNP |
| 5 | g.135028849T>A | CA361027322 | PITX1 | c.875A>T (p.His292Leu) | |
| 5 | g.135028849T>C | CA361027323 | PITX1 | c.875A>G (p.His292Arg) | gnomAD v4 |
| 5 | g.135028849T>G | CA361027324 | PITX1 | c.875A>C (p.His292Pro) | |
| 5 | g.135028851_135028853del | CA2768505078 | PITX1 | c.873_875del (p.Gln291del) | |
| 5 | g.135028850G>A | CA361027325 | PITX1 | c.874C>T (p.His292Tyr) | |
| 5 | g.135028850G>C | CA361027327 | PITX1 | c.874C>G (p.His292Asp) | |
| 5 | g.135028850G>T | CA361027326 | PITX1 | c.874C>A (p.His292Asn) | |
| 5 | g.135028851C>A | CA361027328 | PITX1 | c.873G>T (p.Gln291His) | |
| 5 | g.135028851C>G | CA361027329 | PITX1 | c.873G>C (p.Gln291His) | |
| 5 | g.135028851C>T | CA446781807 | PITX1 | c.873G>A (p.Gln291=) | |
| 5 | g.135028852T>A | CA361027330 | PITX1 | c.872A>T (p.Gln291Leu) | |
| 5 | g.135028852T>C | CA361027331 | PITX1 | c.872A>G (p.Gln291Arg) | |
| 5 | g.135028852T>G | CA361027332 | PITX1 | c.872A>C (p.Gln291Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028852T= | CA1584338834 | PITX1 | c.872A= (p.Gln291=) | |
| 5 | g.135028853G>A | CA361027333 | PITX1 | c.871C>T (p.Gln291Ter) | dbSNP gnomAD v2 |
| 5 | g.135028853G>C | CA361027334 | PITX1 | c.871C>G (p.Gln291Glu) | |
| 5 | g.135028853G= | CA1584338839 | PITX1 | c.871C= (p.Gln291=) | |
| 5 | g.135028853G>T | CA361027335 | PITX1 | c.871C>A (p.Gln291Lys) | |
| 5 | g.135028854T>A | CA361027336 | PITX1 | c.870A>T (p.Lys290Asn) | |
| 5 | g.135028854T>C | CA446781820 | PITX1 | c.870A>G (p.Lys290=) | |
| 5 | g.135028854T>G | CA361027337 | PITX1 | c.870A>C (p.Lys290Asn) | |
| 5 | g.135028855T>A | CA361027338 | PITX1 | c.869A>T (p.Lys290Ile) | |
| 5 | g.135028855T>C | CA361027339 | PITX1 | c.869A>G (p.Lys290Arg) | dbSNP gnomAD v4 |
| 5 | g.135028855T>G | CA361027340 | PITX1 | c.869A>C (p.Lys290Thr) | |
| 5 | g.135028855T= | CA1584338843 | PITX1 | c.869A= (p.Lys290=) | |
| 5 | g.135028856T>A | CA361027341 | PITX1 | c.868A>T (p.Lys290Ter) | |
| 5 | g.135028856T>C | CA361027343 | PITX1 | c.868A>G (p.Lys290Glu) | gnomAD v4 |
| 5 | g.135028856T>G | CA361027342 | PITX1 | c.868A>C (p.Lys290Gln) | |
| 5 | g.135028857G>A | CA446781833 | PITX1 | c.867C>T (p.Ser289=) | |
| 5 | g.135028857G>C | CA446781835 | PITX1 | c.867C>G (p.Ser289=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028857G= | CA1584338845 | PITX1 | c.867C= (p.Ser289=) | |
| 5 | g.135028857G>T | CA446781837 | PITX1 | c.867C>A (p.Ser289=) | |
| 5 | g.135028858G>A | CA361027344 | PITX1 | c.866C>T (p.Ser289Phe) | |
| 5 | g.135028858G>C | CA361027345 | PITX1 | c.866C>G (p.Ser289Cys) | |
| 5 | g.135028858G>T | CA361027346 | PITX1 | c.866C>A (p.Ser289Tyr) | |
| 5 | g.135028859A= | CA1584338849 | PITX1 | c.865T= (p.Ser289=) | |
| 5 | g.135028859A>C | CA128009252 | PITX1 | c.865T>G (p.Ser289Ala) | dbSNP gnomAD v4 |
| 5 | g.135028859A>G | CA361027347 | PITX1 | c.865T>C (p.Ser289Pro) | gnomAD v4 |
| 5 | g.135028859A>T | CA361027348 | PITX1 | c.865T>A (p.Ser289Thr) | |
| 5 | g.135028860C>A | CA361027349 | PITX1 | c.864G>T (p.Lys288Asn) | |
| 5 | g.135028860C= | CA1584338854 | PITX1 | c.864G= (p.Lys288=) | |
| 5 | g.135028860C>G | CA361027350 | PITX1 | c.864G>C (p.Lys288Asn) | |
| 5 | g.135028860C>T | CA446781855 | PITX1 | c.864G>A (p.Lys288=) | dbSNP gnomAD v4 |
| 5 | g.135028861T>A | CA361027351 | PITX1 | c.863A>T (p.Lys288Met) | gnomAD v4 |
| 5 | g.135028861T>C | CA361027352 | PITX1 | c.863A>G (p.Lys288Arg) | gnomAD v4 |
| 5 | g.135028861T>G | CA361027353 | PITX1 | c.863A>C (p.Lys288Thr) | |
| 5 | g.135028862T>A | CA361027355 | PITX1 | c.862A>T (p.Lys288Ter) | |
| 5 | g.135028862T>C | CA361027356 | PITX1 | c.862A>G (p.Lys288Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028862T>G | CA361027354 | PITX1 | c.862A>C (p.Lys288Gln) | gnomAD v4 |
| 5 | g.135028862T= | CA1584338857 | PITX1 | c.862A= (p.Lys288=) | |
| 5 | g.135028863G>A | CA446781869 | PITX1 | c.861C>T (p.Leu287=) | dbSNP gnomAD v4 |
| 5 | g.135028863G>C | CA3417532 | PITX1 | c.861C>G (p.Leu287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028863G= | CA1584338861 | PITX1 | c.861C= (p.Leu287=) | |
| 5 | g.135028863G>T | CA446781867 | PITX1 | c.861C>A (p.Leu287=) | |
| 5 | g.135028864A= | CA1584338864 | PITX1 | c.860T= (p.Leu287=) | |
| 5 | g.135028864A>C | CA3417533 | PITX1 | c.860T>G (p.Leu287Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028864A>G | CA361027357 | PITX1 | c.860T>C (p.Leu287Pro) | |
| 5 | g.135028864A>T | CA361027358 | PITX1 | c.860T>A (p.Leu287His) | |
| 5 | g.135028865G>A | CA361027359 | PITX1 | c.859C>T (p.Leu287Phe) | |
| 5 | g.135028865G>C | CA361027360 | PITX1 | c.859C>G (p.Leu287Val) | |
| 5 | g.135028865G>T | CA361027361 | PITX1 | c.859C>A (p.Leu287Ile) | |
| 5 | g.135028866C>A | CA446781886 | PITX1 | c.858G>T (p.Arg286=) | |
| 5 | g.135028866C= | CA1584338868 | PITX1 | c.858G= (p.Arg286=) | |
| 5 | g.135028866C>G | CA446781884 | PITX1 | c.858G>C (p.Arg286=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028866C>T | CA3417534 | PITX1 | c.858G>A (p.Arg286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028867C>A | CA361027362 | PITX1 | c.857G>T (p.Arg286Leu) | |
| 5 | g.135028867C= | CA1584338871 | PITX1 | c.857G= (p.Arg286=) | |
| 5 | g.135028867C>G | CA361027363 | PITX1 | c.857G>C (p.Arg286Pro) | |
| 5 | g.135028867C>T | CA3417535 | PITX1 | c.857G>A (p.Arg286Gln) | dbSNP ExAC gnomAD v2 |
| 5 | g.135028868G>A | CA361027364 | PITX1 | c.856C>T (p.Arg286Trp) | gnomAD v4 |
| 5 | g.135028868G>C | CA361027365 | PITX1 | c.856C>G (p.Arg286Gly) | |
| 5 | g.135028868G>T | CA446781896 | PITX1 | c.856C>A (p.Arg286=) | gnomAD v4 COSMIC |
| 5 | g.135028869C>A | CA446781899 | PITX1 | c.855G>T (p.Leu285=) | |
| 5 | g.135028869C= | CA1584338873 | PITX1 | c.855G= (p.Leu285=) | |
| 5 | g.135028869C>G | CA3417536 | PITX1 | c.855G>C (p.Leu285=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028869C>T | CA446781901 | PITX1 | c.855G>A (p.Leu285=) | |
| 5 | g.135028869_135028878delinsCAGGCTGGCT | CA1584338874 | PITX1 | c.846_855delinsAGCCAGCCTG (p.Leu282=) | |
| 5 | g.135028870A>C | CA361027368 | PITX1 | c.854T>G (p.Leu285Arg) | |
| 5 | g.135028870A>G | CA361027367 | PITX1 | c.854T>C (p.Leu285Pro) | |
| 5 | g.135028870A>T | CA361027366 | PITX1 | c.854T>A (p.Leu285Gln) | |
| 5 | g.135028875_135028883del | CA1584338875 | PITX1 | c.846_854del (p.Ala283_Leu285del) | dbSNP |
| 5 | g.135028871G>A | CA446781910 | PITX1 | c.853C>T (p.Leu285=) | gnomAD v4 |
| 5 | g.135028871G>C | CA361027369 | PITX1 | c.853C>G (p.Leu285Val) | |
| 5 | g.135028871G>T | CA361027370 | PITX1 | c.853C>A (p.Leu285Met) | |
| 5 | g.135028872G>A | CA128009285 | PITX1 | c.852C>T (p.Ser284=) | dbSNP gnomAD v4 |
| 5 | g.135028872G>C | CA361027371 | PITX1 | c.852C>G (p.Ser284Arg) | |
| 5 | g.135028872G= | CA1584338877 | PITX1 | c.852C= (p.Ser284=) | |
| 5 | g.135028872G>T | CA361027372 | PITX1 | c.852C>A (p.Ser284Arg) | |
| 5 | g.135028873C>A | CA361027373 | PITX1 | c.851G>T (p.Ser284Ile) | |
| 5 | g.135028873C>G | CA361027374 | PITX1 | c.851G>C (p.Ser284Thr) | gnomAD v4 |
| 5 | g.135028873C>T | CA361027375 | PITX1 | c.851G>A (p.Ser284Asn) | gnomAD v4 |
| 5 | g.135028874T>A | CA361027376 | PITX1 | c.850A>T (p.Ser284Cys) | |
| 5 | g.135028874T>C | CA361027377 | PITX1 | c.850A>G (p.Ser284Gly) | |
| 5 | g.135028874T>G | CA361027378 | PITX1 | c.850A>C (p.Ser284Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028874T= | CA1584338882 | PITX1 | c.850A= (p.Ser284=) | |
| 5 | g.135028874_135028877delinsTGGC | CA1584338883 | PITX1 | c.847_850delinsGCCA (p.Ala283=) | |
| 5 | g.135028875G>A | CA3417537 | PITX1 | c.849C>T (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028875G>C | CA446781928 | PITX1 | c.849C>G (p.Ala283=) | |
| 5 | g.135028875G= | CA1584338885 | PITX1 | c.849C= (p.Ala283=) | |
| 5 | g.135028875G>T | CA446781930 | PITX1 | c.849C>A (p.Ala283=) | |
| 5 | g.135028875_135028877del | CA1081831693 | PITX1 | c.847_849del (p.Ala283del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028876G>A | CA361027380 | PITX1 | c.848C>T (p.Ala283Val) | gnomAD v4 |
| 5 | g.135028876G>C | CA361027381 | PITX1 | c.848C>G (p.Ala283Gly) | |
| 5 | g.135028876G>T | CA361027379 | PITX1 | c.848C>A (p.Ala283Asp) | |
| 5 | g.135028877C>A | CA361027382 | PITX1 | c.847G>T (p.Ala283Ser) | |
| 5 | g.135028877C>G | CA361027383 | PITX1 | c.847G>C (p.Ala283Pro) | |
| 5 | g.135028877C>T | CA361027384 | PITX1 | c.847G>A (p.Ala283Thr) | gnomAD v4 |
| 5 | g.135028878T>A | CA446781942 | PITX1 | c.846A>T (p.Leu282=) | |
| 5 | g.135028878T>C | CA446781944 | PITX1 | c.846A>G (p.Leu282=) | |
| 5 | g.135028878T>G | CA446781947 | PITX1 | c.846A>C (p.Leu282=) | |
| 5 | g.135028878_135028884delinsTAGGCTC | CA1584338887 | PITX1 | c.840_846delinsGAGCCTA (p.Ser280=) | |
| 5 | g.135028879A>C | CA361027385 | PITX1 | c.845T>G (p.Leu282Arg) | |
| 5 | g.135028879A>G | CA361027386 | PITX1 | c.845T>C (p.Leu282Pro) | gnomAD v4 |
| 5 | g.135028879A>T | CA361027387 | PITX1 | c.845T>A (p.Leu282Gln) | |
| 5 | g.135028879_135028884del | CA1081831694 | PITX1 | c.840_845del (p.Ser281_Leu282del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028880G>A | CA446781954 | PITX1 | c.844C>T (p.Leu282=) | gnomAD v4 |
| 5 | g.135028880G>C | CA361027388 | PITX1 | c.844C>G (p.Leu282Val) | dbSNP |
| 5 | g.135028880G= | CA1584338890 | PITX1 | c.844C= (p.Leu282=) | |
| 5 | g.135028880G>T | CA361027389 | PITX1 | c.844C>A (p.Leu282Ile) | |
| 5 | g.135028881G>A | CA446781959 | PITX1 | c.843C>T (p.Ser281=) | gnomAD v4 |
| 5 | g.135028881G>C | CA361027390 | PITX1 | c.843C>G (p.Ser281Arg) | |
| 5 | g.135028881G>T | CA361027391 | PITX1 | c.843C>A (p.Ser281Arg) | |
| 5 | g.135028882C>A | CA361027392 | PITX1 | c.842G>T (p.Ser281Ile) | |
| 5 | g.135028882C>G | CA361027393 | PITX1 | c.842G>C (p.Ser281Thr) | gnomAD v4 |
| 5 | g.135028882C>T | CA361027394 | PITX1 | c.842G>A (p.Ser281Asn) | |
| 5 | g.135028883T>A | CA361027395 | PITX1 | c.841A>T (p.Ser281Cys) | |
| 5 | g.135028883T>C | CA361027397 | PITX1 | c.841A>G (p.Ser281Gly) | |
| 5 | g.135028883T>G | CA361027396 | PITX1 | c.841A>C (p.Ser281Arg) | |
| 5 | g.135028884C>A | CA446781976 | PITX1 | c.840G>T (p.Ser280=) | |
| 5 | g.135028884C= | CA1584338892 | PITX1 | c.840G= (p.Ser280=) | |
| 5 | g.135028884C>G | CA446781972 | PITX1 | c.840G>C (p.Ser280=) | gnomAD v4 |
| 5 | g.135028884C>T | CA3417538 | PITX1 | c.840G>A (p.Ser280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028885G>A | CA361027398 | PITX1 | c.839C>T (p.Ser280Leu) | |
| 5 | g.135028885G>C | CA361027399 | PITX1 | c.839C>G (p.Ser280Trp) | |
| 5 | g.135028885G>T | CA361027400 | PITX1 | c.839C>A (p.Ser280Ter) | |
| 5 | g.135028886A>C | CA361027401 | PITX1 | c.838T>G (p.Ser280Ala) | |
| 5 | g.135028886A>G | CA361027402 | PITX1 | c.838T>C (p.Ser280Pro) | |
| 5 | g.135028886A>T | CA361027403 | PITX1 | c.838T>A (p.Ser280Thr) | |
| 5 | g.135028887G>A | CA446781987 | PITX1 | c.837C>T (p.Asn279=) | |
| 5 | g.135028887G>C | CA361027404 | PITX1 | c.837C>G (p.Asn279Lys) | |
| 5 | g.135028887G>T | CA361027405 | PITX1 | c.837C>A (p.Asn279Lys) | |
| 5 | g.135028888T>A | CA361027406 | PITX1 | c.836A>T (p.Asn279Ile) | |
| 5 | g.135028888T>C | CA361027407 | PITX1 | c.836A>G (p.Asn279Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028888T>G | CA361027408 | PITX1 | c.836A>C (p.Asn279Thr) | |
| 5 | g.135028888T= | CA1584338896 | PITX1 | c.836A= (p.Asn279=) | |
| 5 | g.135028889T>A | CA361027410 | PITX1 | c.835A>T (p.Asn279Tyr) | |
| 5 | g.135028889T>C | CA361027411 | PITX1 | c.835A>G (p.Asn279Asp) | |
| 5 | g.135028889T>G | CA361027409 | PITX1 | c.835A>C (p.Asn279His) | |
| 5 | g.135028890G>A | CA446782001 | PITX1 | c.834C>T (p.Cys278=) | gnomAD v4 |
| 5 | g.135028890G>C | CA361027413 | PITX1 | c.834C>G (p.Cys278Trp) | |
| 5 | g.135028890G>T | CA361027412 | PITX1 | c.834C>A (p.Cys278Ter) | |
| 5 | g.135028891C>A | CA361027414 | PITX1 | c.833G>T (p.Cys278Phe) | gnomAD v4 |
| 5 | g.135028891C>G | CA361027415 | PITX1 | c.833G>C (p.Cys278Ser) | |
| 5 | g.135028891C>T | CA361027416 | PITX1 | c.833G>A (p.Cys278Tyr) | |
| 5 | g.135028892A>C | CA361027417 | PITX1 | c.832T>G (p.Cys278Gly) | |
| 5 | g.135028892A>G | CA361027418 | PITX1 | c.832T>C (p.Cys278Arg) | |
| 5 | g.135028892A>T | CA361027419 | PITX1 | c.832T>A (p.Cys278Ser) | |
| 5 | g.135028893C>A | CA446782012 | PITX1 | c.831G>T (p.Thr277=) | |
| 5 | g.135028893C>G | CA446782014 | PITX1 | c.831G>C (p.Thr277=) | |
| 5 | g.135028893C>T | CA446782016 | PITX1 | c.831G>A (p.Thr277=) | gnomAD v4 |
| 5 | g.135028894G>A | CA361027420 | PITX1 | c.830C>T (p.Thr277Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028894G>C | CA361027421 | PITX1 | c.830C>G (p.Thr277Arg) | |
| 5 | g.135028894G>T | CA361027422 | PITX1 | c.830C>A (p.Thr277Lys) | gnomAD v4 |
| 5 | g.135028895T>A | CA361027423 | PITX1 | c.829A>T (p.Thr277Ser) | gnomAD v4 |
| 5 | g.135028895T>C | CA361027424 | PITX1 | c.829A>G (p.Thr277Ala) | |
| 5 | g.135028895T>G | CA361027425 | PITX1 | c.829A>C (p.Thr277Pro) | dbSNP |
| 5 | g.135028895T= | CA1584338900 | PITX1 | c.829A= (p.Thr277=) | |
| 5 | g.135028896G>A | CA446782023 | PITX1 | c.828C>T (p.Asp276=) | |
| 5 | g.135028896G>C | CA361027427 | PITX1 | c.828C>G (p.Asp276Glu) | |
| 5 | g.135028896G>T | CA361027426 | PITX1 | c.828C>A (p.Asp276Glu) | |
| 5 | g.135028897T>A | CA361027428 | PITX1 | c.827A>T (p.Asp276Val) | gnomAD v4 |
| 5 | g.135028897T>C | CA361027429 | PITX1 | c.827A>G (p.Asp276Gly) | |
| 5 | g.135028897T>G | CA361027430 | PITX1 | c.827A>C (p.Asp276Ala) | |
| 5 | g.135028898C>A | CA361027431 | PITX1 | c.826G>T (p.Asp276Tyr) | |
| 5 | g.135028898C= | CA1584338904 | PITX1 | c.826G= (p.Asp276=) | |
| 5 | g.135028898C>G | CA361027432 | PITX1 | c.826G>C (p.Asp276His) | |
| 5 | g.135028898C>T | CA361027433 | PITX1 | c.826G>A (p.Asp276Asn) | dbSNP gnomAD v2 |
| 5 | g.135028899C>A | CA446782035 | PITX1 | c.825G>T (p.Arg275=) | |
| 5 | g.135028899C>G | CA446782038 | PITX1 | c.825G>C (p.Arg275=) | |
| 5 | g.135028899C>T | CA446782040 | PITX1 | c.825G>A (p.Arg275=) | |
| 5 | g.135028900C>A | CA361027434 | PITX1 | c.824G>T (p.Arg275Leu) | |
| 5 | g.135028900C= | CA1584338909 | PITX1 | c.824G= (p.Arg275=) | |
| 5 | g.135028900C>G | CA128009297 | PITX1 | c.824G>C (p.Arg275Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028900C>T | CA361027435 | PITX1 | c.824G>A (p.Arg275Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135028901G>A | CA361027436 | PITX1 | c.823C>T (p.Arg275Trp) | gnomAD v4 |
| 5 | g.135028901G>C | CA361027437 | PITX1 | c.823C>G (p.Arg275Gly) | gnomAD v4 |
| 5 | g.135028901G= | CA1584338917 | PITX1 | c.823C= (p.Arg275=) | |
| 5 | g.135028901G>T | CA446782050 | PITX1 | c.823C>A (p.Arg275=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135028902G>A | CA446782053 | PITX1 | c.822C>T (p.Tyr274=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028902G>C | CA361027438 | PITX1 | c.822C>G (p.Tyr274Ter) | |
| 5 | g.135028902G= | CA1584338921 | PITX1 | c.822C= (p.Tyr274=) | |
| 5 | g.135028902G>T | CA361027439 | PITX1 | c.822C>A (p.Tyr274Ter) | |
| 5 | g.135028903T>A | CA361027441 | PITX1 | c.821A>T (p.Tyr274Phe) | |
| 5 | g.135028903T>C | CA3417539 | PITX1 | c.821A>G (p.Tyr274Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028903T>G | CA361027440 | PITX1 | c.821A>C (p.Tyr274Ser) | |
| 5 | g.135028903T= | CA1584338923 | PITX1 | c.821A= (p.Tyr274=) | |
| 5 | g.135028904A>C | CA361027442 | PITX1 | c.820T>G (p.Tyr274Asp) | |
| 5 | g.135028904A>G | CA361027443 | PITX1 | c.820T>C (p.Tyr274His) | |
| 5 | g.135028904A>T | CA361027444 | PITX1 | c.820T>A (p.Tyr274Asn) | |
| 5 | g.135028905G>A | CA446782070 | PITX1 | c.819C>T (p.Val273=) | gnomAD v4 |
| 5 | g.135028905G>C | CA446782068 | PITX1 | c.819C>G (p.Val273=) | |
| 5 | g.135028905G>T | CA446782066 | PITX1 | c.819C>A (p.Val273=) | |
| 5 | g.135028906A>C | CA361027445 | PITX1 | c.818T>G (p.Val273Gly) | |
| 5 | g.135028906A>G | CA361027446 | PITX1 | c.818T>C (p.Val273Ala) | |
| 5 | g.135028906A>T | CA361027447 | PITX1 | c.818T>A (p.Val273Asp) | |
| 5 | g.135028907C>A | CA3417540 | PITX1 | c.817G>T (p.Val273Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028907C= | CA1584338926 | PITX1 | c.817G= (p.Val273=) | |
| 5 | g.135028907C>G | CA361027448 | PITX1 | c.817G>C (p.Val273Leu) | |
| 5 | g.135028907C>T | CA361027449 | PITX1 | c.817G>A (p.Val273Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135028908G>A | CA446782081 | PITX1 | c.816C>T (p.Ser272=) | gnomAD v4 |
| 5 | g.135028908G>C | CA361027450 | PITX1 | c.816C>G (p.Ser272Arg) | |
| 5 | g.135028908G>T | CA361027451 | PITX1 | c.816C>A (p.Ser272Arg) | |
| 5 | g.135028909C>A | CA361027452 | PITX1 | c.815G>T (p.Ser272Ile) | gnomAD v4 |
| 5 | g.135028909C>G | CA361027453 | PITX1 | c.815G>C (p.Ser272Thr) | |
| 5 | g.135028909C>T | CA361027454 | PITX1 | c.815G>A (p.Ser272Asn) | |
| 5 | g.135028910T>A | CA361027455 | PITX1 | c.814A>T (p.Ser272Cys) | |
| 5 | g.135028910T>C | CA3417541 | PITX1 | c.814A>G (p.Ser272Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028910T>G | CA361027456 | PITX1 | c.814A>C (p.Ser272Arg) | |
| 5 | g.135028910T= | CA1584338929 | PITX1 | c.814A= (p.Ser272=) | |
| 5 | g.135028911G>A | CA446782097 | PITX1 | c.813C>T (p.Tyr271=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028911G>C | CA361027457 | PITX1 | c.813C>G (p.Tyr271Ter) | |
| 5 | g.135028911G= | CA1584338931 | PITX1 | c.813C= (p.Tyr271=) | |
| 5 | g.135028911G>T | CA361027458 | PITX1 | c.813C>A (p.Tyr271Ter) | |
| 5 | g.135028912T>A | CA361027459 | PITX1 | c.812A>T (p.Tyr271Phe) | |
| 5 | g.135028912T>C | CA361027460 | PITX1 | c.812A>G (p.Tyr271Cys) | gnomAD v4 |
| 5 | g.135028912T>G | CA361027461 | PITX1 | c.812A>C (p.Tyr271Ser) | |
| 5 | g.135028913A>C | CA361027462 | PITX1 | c.811T>G (p.Tyr271Asp) | |
| 5 | g.135028913A>G | CA361027463 | PITX1 | c.811T>C (p.Tyr271His) | |
| 5 | g.135028913A>T | CA361027464 | PITX1 | c.811T>A (p.Tyr271Asn) | |
| 5 | g.135028914G>A | CA446783849 | PITX1 | c.810C>T (p.Pro270=) | gnomAD v4 |
| 5 | g.135028914G>C | CA446783853 | PITX1 | c.810C>G (p.Pro270=) | |
| 5 | g.135028914G>T | CA446783855 | PITX1 | c.810C>A (p.Pro270=) | |
| 5 | g.135028915G>A | CA361027465 | PITX1 | c.809C>T (p.Pro270Leu) | |
| 5 | g.135028915G>C | CA361027466 | PITX1 | c.809C>G (p.Pro270Arg) | |
| 5 | g.135028915G>T | CA361027467 | PITX1 | c.809C>A (p.Pro270His) | |
| 5 | g.135028916G>A | CA361027470 | PITX1 | c.808C>T (p.Pro270Ser) | |
| 5 | g.135028916G>C | CA361027469 | PITX1 | c.808C>G (p.Pro270Ala) | |
| 5 | g.135028916G>T | CA361027468 | PITX1 | c.808C>A (p.Pro270Thr) | |
| 5 | g.135028917C>A | CA446783872 | PITX1 | c.807G>T (p.Ser269=) | dbSNP gnomAD v4 |
| 5 | g.135028917C= | CA1584338934 | PITX1 | c.807G= (p.Ser269=) | |
| 5 | g.135028917C>G | CA3417542 | PITX1 | c.807G>C (p.Ser269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028917C>T | CA446783875 | PITX1 | c.807G>A (p.Ser269=) | |
| 5 | g.135028918G>A | CA361027472 | PITX1 | c.806C>T (p.Ser269Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028918G>C | CA361027471 | PITX1 | c.806C>G (p.Ser269Trp) | COSMIC |
| 5 | g.135028918G= | CA1584338937 | PITX1 | c.806C= (p.Ser269=) | |
| 5 | g.135028918G>T | CA361027473 | PITX1 | c.806C>A (p.Ser269Ter) | |
| 5 | g.135028919A>C | CA361027474 | PITX1 | c.805T>G (p.Ser269Ala) | |
| 5 | g.135028919A>G | CA361027475 | PITX1 | c.805T>C (p.Ser269Pro) | gnomAD v4 |
| 5 | g.135028919A>T | CA361027476 | PITX1 | c.805T>A (p.Ser269Thr) | |
| 5 | g.135028920G>A | CA446783887 | PITX1 | c.804C>T (p.Ala268=) | |
| 5 | g.135028920G>C | CA446783890 | PITX1 | c.804C>G (p.Ala268=) | |
| 5 | g.135028920G>T | CA446783893 | PITX1 | c.804C>A (p.Ala268=) | |
| 5 | g.135028921G>A | CA361027477 | PITX1 | c.803C>T (p.Ala268Val) | |
| 5 | g.135028921G>C | CA361027478 | PITX1 | c.803C>G (p.Ala268Gly) | |
| 5 | g.135028921G>T | CA361027479 | PITX1 | c.803C>A (p.Ala268Asp) | gnomAD v4 |
| 5 | g.135028922C>A | CA361027480 | PITX1 | c.802G>T (p.Ala268Ser) | |
| 5 | g.135028922C= | CA1584338941 | PITX1 | c.802G= (p.Ala268=) | |
| 5 | g.135028922C>G | CA361027481 | PITX1 | c.802G>C (p.Ala268Pro) | |
| 5 | g.135028922C>T | CA361027482 | PITX1 | c.802G>A (p.Ala268Thr) | dbSNP gnomAD v4 |
| 5 | g.135028923G>A | CA446783902 | PITX1 | c.801C>T (p.Pro267=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135028923G>C | CA446783904 | PITX1 | c.801C>G (p.Pro267=) | |
| 5 | g.135028923G= | CA1584338945 | PITX1 | c.801C= (p.Pro267=) | |
| 5 | g.135028923G>T | CA446783907 | PITX1 | c.801C>A (p.Pro267=) | |
| 5 | g.135028924G>A | CA361027483 | PITX1 | c.800C>T (p.Pro267Leu) | |
| 5 | g.135028924G>C | CA361027484 | PITX1 | c.800C>G (p.Pro267Arg) | |
| 5 | g.135028924G>T | CA361027485 | PITX1 | c.800C>A (p.Pro267His) | |
| 5 | g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC | CA1584338948 | PITX1 | c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC (p.Ser255=) | |
| 5 | g.135028925G>A | CA361027488 | PITX1 | c.799C>T (p.Pro267Ser) | |
| 5 | g.135028925G>C | CA361027487 | PITX1 | c.799C>G (p.Pro267Ala) | |
| 5 | g.135028925G>T | CA361027486 | PITX1 | c.799C>A (p.Pro267Thr) | |
| 5 | g.135028929_135028963del | CA213051 | PITX1 | c.765_799del (p.Ala256ArgfsTer?) | ClinVar dbSNP |
| 5 | g.135028926A>C | CA446783927 | PITX1 | c.798T>G (p.Thr266=) | |
| 5 | g.135028926A>G | CA446783930 | PITX1 | c.798T>C (p.Thr266=) | |
| 5 | g.135028926A>T | CA446783925 | PITX1 | c.798T>A (p.Thr266=) | |
| 5 | g.135028927G>A | CA361027489 | PITX1 | c.797C>T (p.Thr266Ile) | |
| 5 | g.135028927G>C | CA361027490 | PITX1 | c.797C>G (p.Thr266Ser) | |
| 5 | g.135028927G>T | CA361027491 | PITX1 | c.797C>A (p.Thr266Asn) | |
| 5 | g.135028928T>A | CA361027492 | PITX1 | c.796A>T (p.Thr266Ser) | |
| 5 | g.135028928T>C | CA361027493 | PITX1 | c.796A>G (p.Thr266Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028928T>G | CA361027494 | PITX1 | c.796A>C (p.Thr266Pro) | dbSNP |
| 5 | g.135028928T= | CA1584338955 | PITX1 | c.796A= (p.Thr266=) | |
| 5 | g.135028929G>A | CA446783947 | PITX1 | c.795C>T (p.Gly265=) | |
| 5 | g.135028929G>C | CA446783950 | PITX1 | c.795C>G (p.Gly265=) | |
| 5 | g.135028929G>T | CA446783952 | PITX1 | c.795C>A (p.Gly265=) | |
| 5 | g.135028930C>A | CA361027495 | PITX1 | c.794G>T (p.Gly265Val) | gnomAD v4 |
| 5 | g.135028930C= | CA1584338958 | PITX1 | c.794G= (p.Gly265=) | |
| 5 | g.135028930C>G | CA361027496 | PITX1 | c.794G>C (p.Gly265Ala) | gnomAD v4 |
| 5 | g.135028930C>T | CA361027497 | PITX1 | c.794G>A (p.Gly265Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028931C>A | CA361027498 | PITX1 | c.793G>T (p.Gly265Cys) | ClinVar dbSNP |
| 5 | g.135028931C= | CA1584338963 | PITX1 | c.793G= (p.Gly265=) | |
| 5 | g.135028931C>G | CA3417543 | PITX1 | c.793G>C (p.Gly265Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028931C>T | CA3417544 | PITX1 | c.793G>A (p.Gly265Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028931_135028933del | CA2675353692 | PITX1 | c.791_793del (p.Tyr264_Gly265delinsCys) | gnomAD v4 |
| 5 | g.135028932G>A | CA446783971 | PITX1 | c.792C>T (p.Tyr264=) | gnomAD v4 |
| 5 | g.135028932G>C | CA361027499 | PITX1 | c.792C>G (p.Tyr264Ter) | |
| 5 | g.135028932G>T | CA361027500 | PITX1 | c.792C>A (p.Tyr264Ter) | gnomAD v4 COSMIC |
| 5 | g.135028933T>A | CA361027503 | PITX1 | c.791A>T (p.Tyr264Phe) | |
| 5 | g.135028933T>C | CA361027502 | PITX1 | c.791A>G (p.Tyr264Cys) | |
| 5 | g.135028933T>G | CA361027501 | PITX1 | c.791A>C (p.Tyr264Ser) | dbSNP |
| 5 | g.135028933T= | CA1584338969 | PITX1 | c.791A= (p.Tyr264=) | |
| 5 | g.135028934A>C | CA361027504 | PITX1 | c.790T>G (p.Tyr264Asp) | |
| 5 | g.135028934A>G | CA361027505 | PITX1 | c.790T>C (p.Tyr264His) | gnomAD v4 |
| 5 | g.135028934A>T | CA361027506 | PITX1 | c.790T>A (p.Tyr264Asn) |