5 | g.135028845_135028847del | CA2675353691 | PITX1 | c.881_883del (p.Ser294del)
| gnomAD v4 |
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.135028858dup | CA2842964916 | PITX1 | c.867dup (p.Lys290GlnfsTer?)
| |
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.135028867_135028869del | CA2842964917 | PITX1 | c.857_859del (p.Arg286del)
| |
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)
| ClinVar 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)
| ClinVar 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)
| |
5 | g.135028934_135028935insAGGG | CA2675353693 | PITX1 | c.789_790insCCCT (p.Tyr264ProfsTer?)
| gnomAD v4 |
5 | g.135028935C>A | CA446783990 | PITX1 | c.789G>T (p.Pro263=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028935C= | CA1584338972 | PITX1 | c.789G= (p.Pro263=)
| |
5 | g.135028935C>G | CA3417545 | PITX1 | c.789G>C (p.Pro263=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028935C>T | CA3417546 | PITX1 | c.789G>A (p.Pro263=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028936G>A | CA128009332 | PITX1 | c.788C>T (p.Pro263Leu)
| ClinVar dbSNP gnomAD v4 |
5 | g.135028936G>C | CA3417547 | PITX1 | c.788C>G (p.Pro263Arg)
| dbSNP ExAC gnomAD v4 |
5 | g.135028936G= | CA1584338980 | PITX1 | c.788C= (p.Pro263=)
| |
5 | g.135028936G>T | CA361027507 | PITX1 | c.788C>A (p.Pro263Gln)
| |
5 | g.135028937G>A | CA361027508 | PITX1 | c.787C>T (p.Pro263Ser)
| |
5 | g.135028937G>C | CA361027509 | PITX1 | c.787C>G (p.Pro263Ala)
| |
5 | g.135028937G>T | CA361027510 | PITX1 | c.787C>A (p.Pro263Thr)
| |
5 | g.135028938_135028939insGCGG | CA2675353694 | PITX1 | c.787_788insGCCC (p.Pro263ArgfsTer?)
| gnomAD v4 |
5 | g.135028938G>A | CA446784013 | PITX1 | c.786C>T (p.Cys262=)
| |
5 | g.135028938G>C | CA361027511 | PITX1 | c.786C>G (p.Cys262Trp)
| |
5 | g.135028938G>T | CA361027512 | PITX1 | c.786C>A (p.Cys262Ter)
| |
5 | g.135028939C>A | CA361027515 | PITX1 | c.785G>T (p.Cys262Phe)
| |
5 | g.135028939C>G | CA361027514 | PITX1 | c.785G>C (p.Cys262Ser)
| |
5 | g.135028939C>T | CA361027513 | PITX1 | c.785G>A (p.Cys262Tyr)
| |
5 | g.135028940A>C | CA361027516 | PITX1 | c.784T>G (p.Cys262Gly)
| gnomAD v4 |
5 | g.135028940A>G | CA361027517 | PITX1 | c.784T>C (p.Cys262Arg)
| |
5 | g.135028940A>T | CA361027518 | PITX1 | c.784T>A (p.Cys262Ser)
| |
5 | g.135028941A= | CA1584338984 | PITX1 | c.783T= (p.Ala261=)
| |
5 | g.135028941A>C | CA446784036 | PITX1 | c.783T>G (p.Ala261=)
| |
5 | g.135028941A>G | CA446784039 | PITX1 | c.783T>C (p.Ala261=)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028941A>T | CA446784042 | PITX1 | c.783T>A (p.Ala261=)
| |
5 | g.135028942G>A | CA361027519 | PITX1 | c.782C>T (p.Ala261Val)
| gnomAD v4 |
5 | g.135028942G>C | CA361027520 | PITX1 | c.782C>G (p.Ala261Gly)
| |
5 | g.135028942G>T | CA361027521 | PITX1 | c.782C>A (p.Ala261Asp)
| |
5 | g.135028943C>A | CA361027522 | PITX1 | c.781G>T (p.Ala261Ser)
| gnomAD v4 COSMIC |
5 | g.135028943C= | CA1584338987 | PITX1 | c.781G= (p.Ala261=)
| |
5 | g.135028943C>G | CA361027523 | PITX1 | c.781G>C (p.Ala261Pro)
| |
5 | g.135028943C>T | CA361027524 | PITX1 | c.781G>A (p.Ala261Thr)
| dbSNP |
5 | g.135028944G>A | CA3417548 | PITX1 | c.780C>T (p.Gly260=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028944G>C | CA446784063 | PITX1 | c.780C>G (p.Gly260=)
| gnomAD v4 |
5 | g.135028944G= | CA1584338990 | PITX1 | c.780C= (p.Gly260=)
| |
5 | g.135028944G>T | CA446784059 | PITX1 | c.780C>A (p.Gly260=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028945C>A | CA361027525 | PITX1 | c.779G>T (p.Gly260Val)
| dbSNP |
5 | g.135028945C= | CA1584338995 | PITX1 | c.779G= (p.Gly260=)
| |
5 | g.135028945C>G | CA361027526 | PITX1 | c.779G>C (p.Gly260Ala)
| |
5 | g.135028945C>T | CA361027527 | PITX1 | c.779G>A (p.Gly260Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |