| 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 |
| 5 | g.135028946C>A | CA361027528 | PITX1 | c.778G>T (p.Gly260Cys)
| |
| 5 | g.135028946C= | CA1584339001 | PITX1 | c.778G= (p.Gly260=)
| |
| 5 | g.135028946C>G | CA361027529 | PITX1 | c.778G>C (p.Gly260Arg)
| gnomAD v4 |
| 5 | g.135028946C>T | CA128009366 | PITX1 | c.778G>A (p.Gly260Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028947C>A | CA446784074 | PITX1 | c.777G>T (p.Pro259=)
| dbSNP gnomAD v2 |
| 5 | g.135028947C= | CA1584339006 | PITX1 | c.777G= (p.Pro259=)
| |
| 5 | g.135028947C>G | CA446784076 | PITX1 | c.777G>C (p.Pro259=)
| gnomAD v4 |
| 5 | g.135028947C>T | CA446784078 | PITX1 | c.777G>A (p.Pro259=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135028948G>A | CA361027530 | PITX1 | c.776C>T (p.Pro259Leu)
| dbSNP gnomAD v4 |
| 5 | g.135028948G>C | CA361027532 | PITX1 | c.776C>G (p.Pro259Arg)
| |
| 5 | g.135028948G= | CA1584339011 | PITX1 | c.776C= (p.Pro259=)
| |
| 5 | g.135028948G>T | CA361027531 | PITX1 | c.776C>A (p.Pro259Gln)
| |
| 5 | g.135028949G>A | CA361027533 | PITX1 | c.775C>T (p.Pro259Ser)
| |
| 5 | g.135028949G>C | CA361027534 | PITX1 | c.775C>G (p.Pro259Ala)
| |
| 5 | g.135028949G>T | CA361027535 | PITX1 | c.775C>A (p.Pro259Thr)
| |
| 5 | g.135028950C>A | CA446784088 | PITX1 | c.774G>T (p.Ser258=)
| gnomAD v4 |
| 5 | g.135028950C= | CA1584339015 | PITX1 | c.774G= (p.Ser258=)
| |
| 5 | g.135028950C>G | CA446784091 | PITX1 | c.774G>C (p.Ser258=)
| |
| 5 | g.135028950C>T | CA3417549 | PITX1 | c.774G>A (p.Ser258=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135028951G>A | CA361027536 | PITX1 | c.773C>T (p.Ser258Leu)
| gnomAD v4 |
| 5 | g.135028951G>C | CA361027537 | PITX1 | c.773C>G (p.Ser258Trp)
| |
| 5 | g.135028951G= | CA1584339018 | PITX1 | c.773C= (p.Ser258=)
| |
| 5 | g.135028951G>T | CA361027538 | PITX1 | c.773C>A (p.Ser258Ter)
| dbSNP gnomAD v4 |
| 5 | g.135028952A>C | CA361027539 | PITX1 | c.772T>G (p.Ser258Ala)
| |
| 5 | g.135028952A>G | CA361027540 | PITX1 | c.772T>C (p.Ser258Pro)
| |
| 5 | g.135028952A>T | CA361027541 | PITX1 | c.772T>A (p.Ser258Thr)
| |
| 5 | g.135028953C>A | CA361027542 | PITX1 | c.771G>T (p.Met257Ile)
| |
| 5 | g.135028953C>G | CA361027543 | PITX1 | c.771G>C (p.Met257Ile)
| |
| 5 | g.135028953C>T | CA361027544 | PITX1 | c.771G>A (p.Met257Ile)
| |
| 5 | g.135028954A= | CA1584339023 | PITX1 | c.770T= (p.Met257=)
| |
| 5 | g.135028954A>C | CA361027545 | PITX1 | c.770T>G (p.Met257Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028954A>G | CA361027546 | PITX1 | c.770T>C (p.Met257Thr)
| dbSNP gnomAD v4 |
| 5 | g.135028954A>T | CA3417550 | PITX1 | c.770T>A (p.Met257Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028955T>A | CA361027547 | PITX1 | c.769A>T (p.Met257Leu)
| gnomAD v4 |
| 5 | g.135028955T>C | CA361027548 | PITX1 | c.769A>G (p.Met257Val)
| |
| 5 | g.135028955T>G | CA361027549 | PITX1 | c.769A>C (p.Met257Leu)
| dbSNP gnomAD v4 |
| 5 | g.135028955T= | CA1584339026 | PITX1 | c.769A= (p.Met257=)
| |
| 5 | g.135028956G>A | CA446784115 | PITX1 | c.768C>T (p.Ala256=)
| |
| 5 | g.135028956G>C | CA446784116 | PITX1 | c.768C>G (p.Ala256=)
| |
| 5 | g.135028956G>T | CA446784117 | PITX1 | c.768C>A (p.Ala256=)
| |
| 5 | g.135028957G>A | CA361027550 | PITX1 | c.767C>T (p.Ala256Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028957G>C | CA361027551 | PITX1 | c.767C>G (p.Ala256Gly)
| |
| 5 | g.135028957G= | CA1584339031 | PITX1 | c.767C= (p.Ala256=)
| |
| 5 | g.135028957G>T | CA361027552 | PITX1 | c.767C>A (p.Ala256Asp)
| |
| 5 | g.135028958C>A | CA361027553 | PITX1 | c.766G>T (p.Ala256Ser)
| gnomAD v4 |
| 5 | g.135028958C= | CA1584339035 | PITX1 | c.766G= (p.Ala256=)
| |
| 5 | g.135028958C>G | CA361027554 | PITX1 | c.766G>C (p.Ala256Pro)
| |
| 5 | g.135028958C>T | CA128009379 | PITX1 | c.766G>A (p.Ala256Thr)
| dbSNP |
| 5 | g.135028959C>A | CA446784129 | PITX1 | c.765G>T (p.Ser255=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028959C= | CA1584339037 | PITX1 | c.765G= (p.Ser255=)
| |
| 5 | g.135028959C>G | CA446784131 | PITX1 | c.765G>C (p.Ser255=)
| |
| 5 | g.135028959C>T | CA3417551 | PITX1 | c.765G>A (p.Ser255=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028960G>A | CA361027557 | PITX1 | c.764C>T (p.Ser255Leu)
| COSMIC |
| 5 | g.135028960G>C | CA361027556 | PITX1 | c.764C>G (p.Ser255Trp)
| |
| 5 | g.135028960G>T | CA361027555 | PITX1 | c.764C>A (p.Ser255Ter)
| |
| 5 | g.135028961A>C | CA361027558 | PITX1 | c.763T>G (p.Ser255Ala)
| |
| 5 | g.135028961A>G | CA361027559 | PITX1 | c.763T>C (p.Ser255Pro)
| |
| 5 | g.135028961A>T | CA361027560 | PITX1 | c.763T>A (p.Ser255Thr)
| |
| 5 | g.135028962G>A | CA446784143 | PITX1 | c.762C>T (p.Asn254=)
| |
| 5 | g.135028962G>C | CA361027561 | PITX1 | c.762C>G (p.Asn254Lys)
| |
| 5 | g.135028962G>T | CA361027562 | PITX1 | c.762C>A (p.Asn254Lys)
| |
| 5 | g.135028963T>A | CA361027565 | PITX1 | c.761A>T (p.Asn254Ile)
| |
| 5 | g.135028963T>C | CA361027564 | PITX1 | c.761A>G (p.Asn254Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028963T>G | CA361027563 | PITX1 | c.761A>C (p.Asn254Thr)
| |
| 5 | g.135028963T= | CA1584339041 | PITX1 | c.761A= (p.Asn254=)
| |
| 5 | g.135028964T>A | CA361027566 | PITX1 | c.760A>T (p.Asn254Tyr)
| |
| 5 | g.135028964T>C | CA361027567 | PITX1 | c.760A>G (p.Asn254Asp)
| |
| 5 | g.135028964T>G | CA361027568 | PITX1 | c.760A>C (p.Asn254His)
| |
| 5 | g.135028965G>A | CA446784158 | PITX1 | c.759C>T (p.Leu253=)
| COSMIC |
| 5 | g.135028965G>C | CA446784160 | PITX1 | c.759C>G (p.Leu253=)
| |
| 5 | g.135028965G>T | CA446784162 | PITX1 | c.759C>A (p.Leu253=)
| |
| 5 | g.135028966A>C | CA361027569 | PITX1 | c.758T>G (p.Leu253Arg)
| |
| 5 | g.135028966A>G | CA361027570 | PITX1 | c.758T>C (p.Leu253Pro)
| |
| 5 | g.135028966A>T | CA361027571 | PITX1 | c.758T>A (p.Leu253His)
| |
| 5 | g.135028966_135028967delinsAG | CA1584339045 | PITX1 | c.757_758delinsCT (p.Leu253=)
| |
| 5 | g.135028967del | CA1081831725 | PITX1 | c.757del (p.Leu253SerfsTer30)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028967G>A | CA361027572 | PITX1 | c.757C>T (p.Leu253Phe)
| |
| 5 | g.135028967G>C | CA361027574 | PITX1 | c.757C>G (p.Leu253Val)
| |
| 5 | g.135028967G>T | CA361027573 | PITX1 | c.757C>A (p.Leu253Ile)
| |
| 5 | g.135028968C>A | CA446784174 | PITX1 | c.756G>T (p.Ser252=)
| gnomAD v4 |
| 5 | g.135028968C= | CA1584339051 | PITX1 | c.756G= (p.Ser252=)
| |
| 5 | g.135028968C>G | CA446784176 | PITX1 | c.756G>C (p.Ser252=)
| |
| 5 | g.135028968C>T | CA3417552 | PITX1 | c.756G>A (p.Ser252=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028969G>A | CA361027575 | PITX1 | c.755C>T (p.Ser252Leu)
| gnomAD v4 |
| 5 | g.135028969G>C | CA361027576 | PITX1 | c.755C>G (p.Ser252Trp)
| |
| 5 | g.135028969G>T | CA361027577 | PITX1 | c.755C>A (p.Ser252Ter)
| |
| 5 | g.135028969dup | CA2580072746 | PITX1 | c.755dup (p.Leu253AlafsTer?)
| ClinVar |
| 5 | g.135028970A= | CA1584339056 | PITX1 | c.754T= (p.Ser252=)
| |
| 5 | g.135028970A>C | CA361027578 | PITX1 | c.754T>G (p.Ser252Ala)
| gnomAD v4 |
| 5 | g.135028970A>G | CA361027579 | PITX1 | c.754T>C (p.Ser252Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028970A>T | CA361027580 | PITX1 | c.754T>A (p.Ser252Thr)
| |
| 5 | g.135028971G>A | CA446784187 | PITX1 | c.753C>T (p.Ser251=)
| |
| 5 | g.135028971G>C | CA446784191 | PITX1 | c.753C>G (p.Ser251=)
| |
| 5 | g.135028971G>T | CA446784189 | PITX1 | c.753C>A (p.Ser251=)
| |
| 5 | g.135028972G>A | CA361027581 | PITX1 | c.752C>T (p.Ser251Phe)
| gnomAD v4 |
| 5 | g.135028972G>C | CA361027582 | PITX1 | c.752C>G (p.Ser251Cys)
| |
| 5 | g.135028972G>T | CA361027583 | PITX1 | c.752C>A (p.Ser251Tyr)
| |
| 5 | g.135028973A>C | CA361027584 | PITX1 | c.751T>G (p.Ser251Ala)
| |
| 5 | g.135028973A>G | CA361027586 | PITX1 | c.751T>C (p.Ser251Pro)
| |
| 5 | g.135028973A>T | CA361027585 | PITX1 | c.751T>A (p.Ser251Thr)
| |
| 5 | g.135028974del | CA2514307786 | PITX1 | c.750del (p.Ser251ProfsTer?)
| |
| 5 | g.135028974G>A | CA3417553 | PITX1 | c.750C>T (p.Gly250=)
| dbSNP ExAC gnomAD v2 |
| 5 | g.135028974G>C | CA446784206 | PITX1 | c.750C>G (p.Gly250=)
| |
| 5 | g.135028974G= | CA1584339059 | PITX1 | c.750C= (p.Gly250=)
| |
| 5 | g.135028974G>T | CA446784208 | PITX1 | c.750C>A (p.Gly250=)
| |
| 5 | g.135028975C>A | CA361027588 | PITX1 | c.749G>T (p.Gly250Val)
| |
| 5 | g.135028975C= | CA1584339062 | PITX1 | c.749G= (p.Gly250=)
| |
| 5 | g.135028975C>G | CA361027587 | PITX1 | c.749G>C (p.Gly250Ala)
| |
| 5 | g.135028975C>T | CA361027589 | PITX1 | c.749G>A (p.Gly250Asp)
| dbSNP |
| 5 | g.135028976C>A | CA361027590 | PITX1 | c.748G>T (p.Gly250Cys)
| |
| 5 | g.135028976C= | CA1584339064 | PITX1 | c.748G= (p.Gly250=)
| |
| 5 | g.135028976C>G | CA361027591 | PITX1 | c.748G>C (p.Gly250Arg)
| |
| 5 | g.135028976C>T | CA3417554 | PITX1 | c.748G>A (p.Gly250Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028977G>A | CA446784221 | PITX1 | c.747C>T (p.Thr249=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028977G>C | CA446784223 | PITX1 | c.747C>G (p.Thr249=)
| |
| 5 | g.135028977G= | CA1584339066 | PITX1 | c.747C= (p.Thr249=)
| |
| 5 | g.135028977G>T | CA3417555 | PITX1 | c.747C>A (p.Thr249=)
| dbSNP ExAC gnomAD v2 |
| 5 | g.135028978G>A | CA361027592 | PITX1 | c.746C>T (p.Thr249Ile)
| |
| 5 | g.135028978G>C | CA361027593 | PITX1 | c.746C>G (p.Thr249Ser)
| |
| 5 | g.135028978G>T | CA361027594 | PITX1 | c.746C>A (p.Thr249Asn)
| |
| 5 | g.135028979T>A | CA361027595 | PITX1 | c.745A>T (p.Thr249Ser)
| |
| 5 | g.135028979T>C | CA361027596 | PITX1 | c.745A>G (p.Thr249Ala)
| COSMIC |
| 5 | g.135028979T>G | CA361027597 | PITX1 | c.745A>C (p.Thr249Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028979T= | CA1584339069 | PITX1 | c.745A= (p.Thr249=)
| |
| 5 | g.135028980G>A | CA446784236 | PITX1 | c.744C>T (p.Leu248=)
| |
| 5 | g.135028980G>C | CA446784237 | PITX1 | c.744C>G (p.Leu248=)
| |
| 5 | g.135028980G>T | CA446784234 | PITX1 | c.744C>A (p.Leu248=)
| |
| 5 | g.135028981A>C | CA361027598 | PITX1 | c.743T>G (p.Leu248Arg)
| |
| 5 | g.135028981A>G | CA361027599 | PITX1 | c.743T>C (p.Leu248Pro)
| gnomAD v4 |
| 5 | g.135028981A>T | CA361027600 | PITX1 | c.743T>A (p.Leu248His)
| |
| 5 | g.135028982G>A | CA361027601 | PITX1 | c.742C>T (p.Leu248Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028982G>C | CA3417556 | PITX1 | c.742C>G (p.Leu248Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028982G= | CA1584339077 | PITX1 | c.742C= (p.Leu248=)
| |
| 5 | g.135028982G>T | CA361027602 | PITX1 | c.742C>A (p.Leu248Ile)
| |
| 5 | g.135028982_135028985delinsGGTT | CA1584339073 | PITX1 | c.739_742delinsAACC (p.Asn247=)
| |
| 5 | g.135028982_135028991delinsGGTTGTTGAT | CA1584339074 | PITX1 | c.733_742delinsATCAACAACC (p.Ile245=)
| |
| 5 | g.135028983G>A | CA446784242 | PITX1 | c.741C>T (p.Asn247=)
| dbSNP |
| 5 | g.135028983G>C | CA361027603 | PITX1 | c.741C>G (p.Asn247Lys)
| |
| 5 | g.135028983G>T | CA361027604 | PITX1 | c.741C>A (p.Asn247Lys)
| gnomAD v4 |
| 5 | g.135028987_135028989del | CA1584339079 | PITX1 | c.739_741del (p.Asn247del)
| dbSNP gnomAD v4 |
| 5 | g.135028991_135028999del | CA563059436 | PITX1 | c.733_741del (p.Ile245_Asn247del)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028984T>A | CA361027605 | PITX1 | c.740A>T (p.Asn247Ile)
| |
| 5 | g.135028984T>C | CA3417557 | PITX1 | c.740A>G (p.Asn247Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135028984T>G | CA361027606 | PITX1 | c.740A>C (p.Asn247Thr)
| gnomAD v3 gnomAD v4 |
| 5 | g.135028984T= | CA1584339084 | PITX1 | c.740A= (p.Asn247=)
| |
| 5 | g.135028985T>A | CA361027608 | PITX1 | c.739A>T (p.Asn247Tyr)
| |
| 5 | g.135028985T>C | CA361027609 | PITX1 | c.739A>G (p.Asn247Asp)
| gnomAD v4 |
| 5 | g.135028985T>G | CA361027610 | PITX1 | c.739A>C (p.Asn247His)
| |
| 5 | g.135028986del | CA2580072747 | PITX1 | c.738del (p.Asn246LysfsTer?)
| ClinVar |
| 5 | g.135028986G>A | CA446784256 | PITX1 | c.738C>T (p.Asn246=)
| |
| 5 | g.135028986G>C | CA361027611 | PITX1 | c.738C>G (p.Asn246Lys)
| |
| 5 | g.135028986G>T | CA361027612 | PITX1 | c.738C>A (p.Asn246Lys)
| |
