| 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)
| |
| 5 | g.135028987T>A | CA361027615 | PITX1 | c.737A>T (p.Asn246Ile)
| |
| 5 | g.135028987T>C | CA361027614 | PITX1 | c.737A>G (p.Asn246Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028987T>G | CA361027613 | PITX1 | c.737A>C (p.Asn246Thr)
| |
| 5 | g.135028987T= | CA1584339087 | PITX1 | c.737A= (p.Asn246=)
| |
| 5 | g.135028988T>A | CA361027616 | PITX1 | c.736A>T (p.Asn246Tyr)
| |
| 5 | g.135028988T>C | CA361027617 | PITX1 | c.736A>G (p.Asn246Asp)
| |
| 5 | g.135028988T>G | CA361027618 | PITX1 | c.736A>C (p.Asn246His)
| |
| 5 | g.135028989G>A | CA446784270 | PITX1 | c.735C>T (p.Ile245=)
| |
| 5 | g.135028989G>C | CA361027619 | PITX1 | c.735C>G (p.Ile245Met)
| |
| 5 | g.135028989G>T | CA446784273 | PITX1 | c.735C>A (p.Ile245=)
| |
| 5 | g.135028990A= | CA1584339090 | PITX1 | c.734T= (p.Ile245=)
| |
| 5 | g.135028990A>C | CA361027620 | PITX1 | c.734T>G (p.Ile245Ser)
| |
| 5 | g.135028990A>G | CA361027621 | PITX1 | c.734T>C (p.Ile245Thr)
| |
| 5 | g.135028990A>T | CA361027622 | PITX1 | c.734T>A (p.Ile245Asn)
| dbSNP gnomAD v4 |
| 5 | g.135028990_135028993delinsATGT | CA1584339092 | PITX1 | c.731_734delinsACAT (p.Asn244=)
| |
| 5 | g.135028991T>A | CA361027623 | PITX1 | c.733A>T (p.Ile245Phe)
| |
| 5 | g.135028991T>C | CA361027624 | PITX1 | c.733A>G (p.Ile245Val)
| dbSNP gnomAD v4 |
| 5 | g.135028991T>G | CA361027625 | PITX1 | c.733A>C (p.Ile245Leu)
| |
| 5 | g.135028991T= | CA1584339096 | PITX1 | c.733A= (p.Ile245=)
| |
| 5 | g.135028996_135028998del | CA1584339095 | PITX1 | c.731_733del (p.Asn244del)
| dbSNP gnomAD v4 |
| 5 | g.135028992G>A | CA3417558 | PITX1 | c.732C>T (p.Asn244=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028992G>C | CA361027626 | PITX1 | c.732C>G (p.Asn244Lys)
| |
| 5 | g.135028992G= | CA1584339099 | PITX1 | c.732C= (p.Asn244=)
| |
| 5 | g.135028992G>T | CA361027627 | PITX1 | c.732C>A (p.Asn244Lys)
| |
| 5 | g.135028993T>A | CA361027630 | PITX1 | c.731A>T (p.Asn244Ile)
| dbSNP |
| 5 | g.135028993T>C | CA361027628 | PITX1 | c.731A>G (p.Asn244Ser)
| |
| 5 | g.135028993T>G | CA361027629 | PITX1 | c.731A>C (p.Asn244Thr)
| |
| 5 | g.135028993T= | CA1584339101 | PITX1 | c.731A= (p.Asn244=)
| |
| 5 | g.135028994T>A | CA361027631 | PITX1 | c.730A>T (p.Asn244Tyr)
| |
| 5 | g.135028994T>C | CA361027632 | PITX1 | c.730A>G (p.Asn244Asp)
| dbSNP |
| 5 | g.135028994T>G | CA361027633 | PITX1 | c.730A>C (p.Asn244His)
| |
| 5 | g.135028994T= | CA1584339103 | PITX1 | c.730A= (p.Asn244=)
| |
| 5 | g.135028995G>A | CA446784295 | PITX1 | c.729C>T (p.Asn243=)
| |
| 5 | g.135028995G>C | CA361027634 | PITX1 | c.729C>G (p.Asn243Lys)
| |
| 5 | g.135028995G>T | CA361027635 | PITX1 | c.729C>A (p.Asn243Lys)
| |
| 5 | g.135028996T>A | CA361027636 | PITX1 | c.728A>T (p.Asn243Ile)
| |
| 5 | g.135028996T>C | CA361027637 | PITX1 | c.728A>G (p.Asn243Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028996T>G | CA361027638 | PITX1 | c.728A>C (p.Asn243Thr)
| |
| 5 | g.135028996T= | CA1584339107 | PITX1 | c.728A= (p.Asn243=)
| |
| 5 | g.135028997T>A | CA361027639 | PITX1 | c.727A>T (p.Asn243Tyr)
| |
| 5 | g.135028997T>C | CA361027640 | PITX1 | c.727A>G (p.Asn243Asp)
| |
| 5 | g.135028997T>G | CA361027641 | PITX1 | c.727A>C (p.Asn243His)
| |
| 5 | g.135028998G>A | CA446784306 | PITX1 | c.726C>T (p.Leu242=)
| |
| 5 | g.135028998G>C | CA446784308 | PITX1 | c.726C>G (p.Leu242=)
| |
| 5 | g.135028998G>T | CA446784311 | PITX1 | c.726C>A (p.Leu242=)
| |
| 5 | g.135028999A>C | CA361027644 | PITX1 | c.725T>G (p.Leu242Arg)
| |
| 5 | g.135028999A>G | CA361027643 | PITX1 | c.725T>C (p.Leu242Pro)
| |
| 5 | g.135028999A>T | CA361027642 | PITX1 | c.725T>A (p.Leu242His)
| |
| 5 | g.135029000G>A | CA361027645 | PITX1 | c.724C>T (p.Leu242Phe)
| dbSNP gnomAD v4 COSMIC |
| 5 | g.135029000G>C | CA361027647 | PITX1 | c.724C>G (p.Leu242Val)
| dbSNP |
| 5 | g.135029000G= | CA1584339109 | PITX1 | c.724C= (p.Leu242=)
| |
| 5 | g.135029000G>T | CA361027646 | PITX1 | c.724C>A (p.Leu242Ile)
| |
| 5 | g.135029001G>A | CA446784323 | PITX1 | c.723C>T (p.Gly241=)
| |
| 5 | g.135029001G>C | CA446784327 | PITX1 | c.723C>G (p.Gly241=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029001G= | CA1584339112 | PITX1 | c.723C= (p.Gly241=)
| |
| 5 | g.135029001G>T | CA446784325 | PITX1 | c.723C>A (p.Gly241=)
| |
| 5 | g.135029002C>A | CA361027648 | PITX1 | c.722G>T (p.Gly241Val)
| |
| 5 | g.135029002C>G | CA361027649 | PITX1 | c.722G>C (p.Gly241Ala)
| gnomAD v4 |
| 5 | g.135029002C>T | CA361027650 | PITX1 | c.722G>A (p.Gly241Asp)
| |
| 5 | g.135029003C>A | CA361027651 | PITX1 | c.721G>T (p.Gly241Cys)
| |
| 5 | g.135029003C>G | CA361027652 | PITX1 | c.721G>C (p.Gly241Arg)
| |
| 5 | g.135029003C>T | CA361027653 | PITX1 | c.721G>A (p.Gly241Ser)
| |
| 5 | g.135029004C>A | CA446784338 | PITX1 | c.720G>T (p.Ser240=)
| |
| 5 | g.135029004C>G | CA446784340 | PITX1 | c.720G>C (p.Ser240=)
| |
| 5 | g.135029004C>T | CA446784341 | PITX1 | c.720G>A (p.Ser240=)
| COSMIC |
| 5 | g.135029005G>A | CA361027654 | PITX1 | c.719C>T (p.Ser240Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029005G>C | CA361027655 | PITX1 | c.719C>G (p.Ser240Trp)
| |
| 5 | g.135029005G= | CA1584339115 | PITX1 | c.719C= (p.Ser240=)
| |
| 5 | g.135029005G>T | CA361027656 | PITX1 | c.719C>A (p.Ser240Ter)
| |
| 5 | g.135029006A>C | CA361027657 | PITX1 | c.718T>G (p.Ser240Ala)
| |
| 5 | g.135029006A>G | CA361027658 | PITX1 | c.718T>C (p.Ser240Pro)
| |
| 5 | g.135029006A>T | CA361027659 | PITX1 | c.718T>A (p.Ser240Thr)
| |
| 5 | g.135029007G>A | CA446784353 | PITX1 | c.717C>T (p.Asn239=)
| |
| 5 | g.135029007G>C | CA361027660 | PITX1 | c.717C>G (p.Asn239Lys)
| |
| 5 | g.135029007G>T | CA361027661 | PITX1 | c.717C>A (p.Asn239Lys)
| |
| 5 | g.135029008T>A | CA361027662 | PITX1 | c.716A>T (p.Asn239Ile)
| |
| 5 | g.135029008T>C | CA361027663 | PITX1 | c.716A>G (p.Asn239Ser)
| |
| 5 | g.135029008T>G | CA361027664 | PITX1 | c.716A>C (p.Asn239Thr)
| dbSNP gnomAD v4 |
| 5 | g.135029008T= | CA1584339117 | PITX1 | c.716A= (p.Asn239=)
| |
| 5 | g.135029009T>A | CA361027665 | PITX1 | c.715A>T (p.Asn239Tyr)
| |
| 5 | g.135029009T>C | CA361027666 | PITX1 | c.715A>G (p.Asn239Asp)
| |
| 5 | g.135029009T>G | CA361027667 | PITX1 | c.715A>C (p.Asn239His)
| |
| 5 | g.135029010G>A | CA446784367 | PITX1 | c.714C>T (p.Pro238=)
| |
| 5 | g.135029010G>C | CA446784368 | PITX1 | c.714C>G (p.Pro238=)
| |
| 5 | g.135029010G>T | CA446784370 | PITX1 | c.714C>A (p.Pro238=)
| |
| 5 | g.135029011G>A | CA361027668 | PITX1 | c.713C>T (p.Pro238Leu)
| |
| 5 | g.135029011G>C | CA361027669 | PITX1 | c.713C>G (p.Pro238Arg)
| dbSNP |
| 5 | g.135029011G= | CA1584339122 | PITX1 | c.713C= (p.Pro238=)
| |
| 5 | g.135029011G>T | CA361027670 | PITX1 | c.713C>A (p.Pro238His)
| |
| 5 | g.135029012G>A | CA361027671 | PITX1 | c.712C>T (p.Pro238Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029012G>C | CA361027672 | PITX1 | c.712C>G (p.Pro238Ala)
| |
| 5 | g.135029012G= | CA1584339124 | PITX1 | c.712C= (p.Pro238=)
| |
| 5 | g.135029012G>T | CA361027673 | PITX1 | c.712C>A (p.Pro238Thr)
| gnomAD v4 |
| 5 | g.135029013C>A | CA361027674 | PITX1 | c.711G>T (p.Met237Ile)
| gnomAD v4 |
| 5 | g.135029013C= | CA1584339127 | PITX1 | c.711G= (p.Met237=)
| |
| 5 | g.135029013C>G | CA361027676 | PITX1 | c.711G>C (p.Met237Ile)
| |
| 5 | g.135029013C>T | CA361027675 | PITX1 | c.711G>A (p.Met237Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029014A>C | CA361027677 | PITX1 | c.710T>G (p.Met237Arg)
| |
| 5 | g.135029014A>G | CA361027678 | PITX1 | c.710T>C (p.Met237Thr)
| gnomAD v4 |
| 5 | g.135029014A>T | CA361027679 | PITX1 | c.710T>A (p.Met237Lys)
| |
| 5 | g.135029015T>A | CA361027680 | PITX1 | c.709A>T (p.Met237Leu)
| |
| 5 | g.135029015T>C | CA361027681 | PITX1 | c.709A>G (p.Met237Val)
| gnomAD v4 |
| 5 | g.135029015T>G | CA361027682 | PITX1 | c.709A>C (p.Met237Leu)
| |
| 5 | g.135029016G>A | CA446784394 | PITX1 | c.708C>T (p.Gly236=)
| |
| 5 | g.135029016G>C | CA446784395 | PITX1 | c.708C>G (p.Gly236=)
| |
| 5 | g.135029016G>T | CA446784397 | PITX1 | c.708C>A (p.Gly236=)
| |
| 5 | g.135029017C>A | CA361027683 | PITX1 | c.707G>T (p.Gly236Val)
| |
| 5 | g.135029017C>G | CA361027684 | PITX1 | c.707G>C (p.Gly236Ala)
| |
| 5 | g.135029017C>T | CA361027685 | PITX1 | c.707G>A (p.Gly236Asp)
| |
| 5 | g.135029018C>A | CA361027686 | PITX1 | c.706G>T (p.Gly236Cys)
| |
| 5 | g.135029018C>G | CA361027687 | PITX1 | c.706G>C (p.Gly236Arg)
| |
| 5 | g.135029018C>T | CA361027688 | PITX1 | c.706G>A (p.Gly236Ser)
| COSMIC |
| 5 | g.135029019A>C | CA446784400 | PITX1 | c.705T>G (p.Pro235=)
| |
| 5 | g.135029019A>G | CA446784401 | PITX1 | c.705T>C (p.Pro235=)
| gnomAD v4 |
| 5 | g.135029019A>T | CA446784402 | PITX1 | c.705T>A (p.Pro235=)
| |
| 5 | g.135029020G>A | CA361027691 | PITX1 | c.704C>T (p.Pro235Leu)
| |
| 5 | g.135029020G>C | CA361027689 | PITX1 | c.704C>G (p.Pro235Arg)
| |
| 5 | g.135029020G>T | CA361027690 | PITX1 | c.704C>A (p.Pro235His)
| |
| 5 | g.135029021G>A | CA361027692 | PITX1 | c.703C>T (p.Pro235Ser)
| |
| 5 | g.135029021G>C | CA361027693 | PITX1 | c.703C>G (p.Pro235Ala)
| |
| 5 | g.135029021G>T | CA361027694 | PITX1 | c.703C>A (p.Pro235Thr)
| |
| 5 | g.135029022C>A | CA446784405 | PITX1 | c.702G>T (p.Val234=)
| |
| 5 | g.135029022C>G | CA446784403 | PITX1 | c.702G>C (p.Val234=)
| |
| 5 | g.135029022C>T | CA446784404 | PITX1 | c.702G>A (p.Val234=)
| |
| 5 | g.135029023A= | CA1584339130 | PITX1 | c.701T= (p.Val234=)
| |
| 5 | g.135029023A>C | CA361027695 | PITX1 | c.701T>G (p.Val234Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029023A>G | CA361027696 | PITX1 | c.701T>C (p.Val234Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029023A>T | CA361027697 | PITX1 | c.701T>A (p.Val234Glu)
| gnomAD v4 |
| 5 | g.135029024C>A | CA361027698 | PITX1 | c.700G>T (p.Val234Leu)
| |
| 5 | g.135029024C= | CA1584339139 | PITX1 | c.700G= (p.Val234=)
| |
| 5 | g.135029024C>G | CA361027699 | PITX1 | c.700G>C (p.Val234Leu)
| gnomAD v4 |
| 5 | g.135029024C>T | CA3417559 | PITX1 | c.700G>A (p.Val234Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029025G>A | CA446784408 | PITX1 | c.699C>T (p.Ala233=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029025G>C | CA446784407 | PITX1 | c.699C>G (p.Ala233=)
| |
| 5 | g.135029025G= | CA1584339144 | PITX1 | c.699C= (p.Ala233=)
| |
| 5 | g.135029025G>T | CA446784406 | PITX1 | c.699C>A (p.Ala233=)
| |
| 5 | g.135029026G>A | CA361027700 | PITX1 | c.698C>T (p.Ala233Val)
| |
| 5 | g.135029026G>C | CA361027701 | PITX1 | c.698C>G (p.Ala233Gly)
| |
| 5 | g.135029026G>T | CA361027702 | PITX1 | c.698C>A (p.Ala233Asp)
| |
| 5 | g.135029027C>A | CA361027704 | PITX1 | c.697G>T (p.Ala233Ser)
| |
| 5 | g.135029027C= | CA1584339148 | PITX1 | c.697G= (p.Ala233=)
| |
| 5 | g.135029027C>G | CA361027705 | PITX1 | c.697G>C (p.Ala233Pro)
| |
| 5 | g.135029027C>T | CA361027703 | PITX1 | c.697G>A (p.Ala233Thr)
| dbSNP gnomAD v4 COSMIC |
| 5 | g.135029028del | CA2526361980 | PITX1 | c.696del (p.Ala233ProfsTer?)
| |
| 5 | g.135029028G>A | CA446784409 | PITX1 | c.696C>T (p.Gly232=)
| dbSNP |
| 5 | g.135029028G>C | CA446784411 | PITX1 | c.696C>G (p.Gly232=)
| |
| 5 | g.135029028G= | CA1584339151 | PITX1 | c.696C= (p.Gly232=)
| |
| 5 | g.135029028G>T | CA446784410 | PITX1 | c.696C>A (p.Gly232=)
| |
| 5 | g.135029029C>A | CA361027707 | PITX1 | c.695G>T (p.Gly232Val)
| |
| 5 | g.135029029C>G | CA361027706 | PITX1 | c.695G>C (p.Gly232Ala)
| |
| 5 | g.135029029C>T | CA361027708 | PITX1 | c.695G>A (p.Gly232Asp)
| gnomAD v4 |
| 5 | g.135029030C>A | CA361027709 | PITX1 | c.694G>T (p.Gly232Cys)
| |
| 5 | g.135029030C= | CA1584339158 | PITX1 | c.694G= (p.Gly232=)
| |
| 5 | g.135029030C>G | CA361027710 | PITX1 | c.694G>C (p.Gly232Arg)
| |
| 5 | g.135029030C>T | CA3417560 | PITX1 | c.694G>A (p.Gly232Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029030_135029031del | CA2543984342 | PITX1 | c.693_694del (p.Gly232ArgfsTer?)
| |
| 5 | g.135029031T>A | CA446784412 | PITX1 | c.693A>T (p.Pro231=)
| |
| 5 | g.135029031T>C | CA446784413 | PITX1 | c.693A>G (p.Pro231=)
| gnomAD v4 |
| 5 | g.135029031T>G | CA446784414 | PITX1 | c.693A>C (p.Pro231=)
| |
| 5 | g.135029032G>A | CA128009402 | PITX1 | c.692C>T (p.Pro231Leu)
| dbSNP |
| 5 | g.135029032G>C | CA361027711 | PITX1 | c.692C>G (p.Pro231Arg)
| |
| 5 | g.135029032G= | CA1584339161 | PITX1 | c.692C= (p.Pro231=)
| |
| 5 | g.135029032G>T | CA361027712 | PITX1 | c.692C>A (p.Pro231Gln)
| gnomAD v4 |
| 5 | g.135029032_135029033insAGT | CA2536931665 | PITX1 | c.691_692insACT (p.Pro231delinsHisSer)
| |
| 5 | g.135029033G>A | CA361027713 | PITX1 | c.691C>T (p.Pro231Ser)
| ClinVar |
| 5 | g.135029033G>C | CA361027714 | PITX1 | c.691C>G (p.Pro231Ala)
| |
| 5 | g.135029033G= | CA1584339163 | PITX1 | c.691C= (p.Pro231=)
| |
| 5 | g.135029033G>T | CA3417561 | PITX1 | c.691C>A (p.Pro231Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029034G>A | CA446784415 | PITX1 | c.690C>T (p.Gly230=)
| |
| 5 | g.135029034G>C | CA446784416 | PITX1 | c.690C>G (p.Gly230=)
| |
| 5 | g.135029034G>T | CA446784417 | PITX1 | c.690C>A (p.Gly230=)
| |
| 5 | g.135029035C>A | CA361027715 | PITX1 | c.689G>T (p.Gly230Val)
| |
| 5 | g.135029035C= | CA1584339166 | PITX1 | c.689G= (p.Gly230=)
| |
| 5 | g.135029035C>G | CA361027716 | PITX1 | c.689G>C (p.Gly230Ala)
| |
| 5 | g.135029035C>T | CA128009427 | PITX1 | c.689G>A (p.Gly230Asp)
| dbSNP |
| 5 | g.135029036C>A | CA361027719 | PITX1 | c.688G>T (p.Gly230Cys)
| |
| 5 | g.135029036C>G | CA361027718 | PITX1 | c.688G>C (p.Gly230Arg)
| |
| 5 | g.135029036C>T | CA361027717 | PITX1 | c.688G>A (p.Gly230Ser)
| |
| 5 | g.135029037C>A | CA361027720 | PITX1 | c.687G>T (p.Met229Ile)
| |
| 5 | g.135029037C= | CA1584339170 | PITX1 | c.687G= (p.Met229=)
| |
| 5 | g.135029037C>G | CA361027721 | PITX1 | c.687G>C (p.Met229Ile)
| |
| 5 | g.135029037C>T | CA3417562 | PITX1 | c.687G>A (p.Met229Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.135029038A= | CA1584339174 | PITX1 | c.686T= (p.Met229=)
| |
| 5 | g.135029038A>C | CA361027722 | PITX1 | c.686T>G (p.Met229Arg)
| |
| 5 | g.135029038A>G | CA361027723 | PITX1 | c.686T>C (p.Met229Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029038A>T | CA361027724 | PITX1 | c.686T>A (p.Met229Lys)
| |
| 5 | g.135029039T>A | CA361027725 | PITX1 | c.685A>T (p.Met229Leu)
| dbSNP gnomAD v4 |
| 5 | g.135029039T>C | CA361027726 | PITX1 | c.685A>G (p.Met229Val)
| |
| 5 | g.135029039T>G | CA361027727 | PITX1 | c.685A>C (p.Met229Leu)
| |
| 5 | g.135029039T= | CA1584339181 | PITX1 | c.685A= (p.Met229=)
| |
| 5 | g.135029040G>A | CA446784418 | PITX1 | c.684C>T (p.Ser228=)
| |
| 5 | g.135029040G>C | CA361027728 | PITX1 | c.684C>G (p.Ser228Arg)
| |
| 5 | g.135029040G>T | CA361027729 | PITX1 | c.684C>A (p.Ser228Arg)
| |
| 5 | g.135029041C>A | CA361027731 | PITX1 | c.683G>T (p.Ser228Ile)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.135029041C= | CA1584339184 | PITX1 | c.683G= (p.Ser228=)
| |
| 5 | g.135029041C>G | CA361027732 | PITX1 | c.683G>C (p.Ser228Thr)
| |
| 5 | g.135029041C>T | CA361027730 | PITX1 | c.683G>A (p.Ser228Asn)
| dbSNP gnomAD v4 |
| 5 | g.135029042T>A | CA361027733 | PITX1 | c.682A>T (p.Ser228Cys)
| |
| 5 | g.135029042T>C | CA361027734 | PITX1 | c.682A>G (p.Ser228Gly)
| |
| 5 | g.135029042T>G | CA361027735 | PITX1 | c.682A>C (p.Ser228Arg)
| |
| 5 | g.135029043G>A | CA446784419 | PITX1 | c.681C>T (p.Ser227=)
| gnomAD v4 |
| 5 | g.135029043G>C | CA446784420 | PITX1 | c.681C>G (p.Ser227=)
| |
| 5 | g.135029043G>T | CA446784421 | PITX1 | c.681C>A (p.Ser227=)
| |
| 5 | g.135029044G>A | CA361027736 | PITX1 | c.680C>T (p.Ser227Phe)
| |
| 5 | g.135029044G>C | CA361027737 | PITX1 | c.680C>G (p.Ser227Cys)
| |
| 5 | g.135029044G>T | CA361027738 | PITX1 | c.680C>A (p.Ser227Tyr)
| |
| 5 | g.135029045A>C | CA361027739 | PITX1 | c.679T>G (p.Ser227Ala)
| |
| 5 | g.135029045A>G | CA361027740 | PITX1 | c.679T>C (p.Ser227Pro)
| |
| 5 | g.135029045A>T | CA361027741 | PITX1 | c.679T>A (p.Ser227Thr)
| |
| 5 | g.135029046C>A | CA446784422 | PITX1 | c.678G>T (p.Pro226=)
| |
| 5 | g.135029046C= | CA1584339189 | PITX1 | c.678G= (p.Pro226=)
| |
| 5 | g.135029046C>G | CA446784423 | PITX1 | c.678G>C (p.Pro226=)
| |
| 5 | g.135029046C>T | CA446784424 | PITX1 | c.678G>A (p.Pro226=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029047G>A | CA361027742 | PITX1 | c.677C>T (p.Pro226Leu)
| dbSNP gnomAD v4 |
| 5 | g.135029047G>C | CA361027743 | PITX1 | c.677C>G (p.Pro226Arg)
| |
| 5 | g.135029047G= | CA1584339191 | PITX1 | c.677C= (p.Pro226=)
| |
| 5 | g.135029047G>T | CA3417563 | PITX1 | c.677C>A (p.Pro226Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029048G>A | CA3417564 | PITX1 | c.676C>T (p.Pro226Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135029048G>C | CA361027744 | PITX1 | c.676C>G (p.Pro226Ala)
| |
| 5 | g.135029048G= | CA1584339194 | PITX1 | c.676C= (p.Pro226=)
| |
| 5 | g.135029048G>T | CA361027745 | PITX1 | c.676C>A (p.Pro226Thr)
| COSMIC |
| 5 | g.135029049C>A | CA361027746 | PITX1 | c.675G>T (p.Met225Ile)
| |
| 5 | g.135029049C>G | CA361027747 | PITX1 | c.675G>C (p.Met225Ile)
| |
| 5 | g.135029049C>T | CA361027748 | PITX1 | c.675G>A (p.Met225Ile)
| |
| 5 | g.135029050A>C | CA361027749 | PITX1 | c.674T>G (p.Met225Arg)
| |
| 5 | g.135029050A>G | CA361027750 | PITX1 | c.674T>C (p.Met225Thr)
| |
| 5 | g.135029050A>T | CA361027751 | PITX1 | c.674T>A (p.Met225Lys)
| |
| 5 | g.135029051T>A | CA361027752 | PITX1 | c.673A>T (p.Met225Leu)
| |
| 5 | g.135029051T>C | CA3417565 | PITX1 | c.673A>G (p.Met225Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135029051T>G | CA361027753 | PITX1 | c.673A>C (p.Met225Leu)
| |
| 5 | g.135029051T= | CA1584339198 | PITX1 | c.673A= (p.Met225=)
| |
| 5 | g.135029052G>A | CA128009465 | PITX1 | c.672C>T (p.Thr224=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135029052G>C | CA446784425 | PITX1 | c.672C>G (p.Thr224=)
| |
| 5 | g.135029052G= | CA1584339204 | PITX1 | c.672C= (p.Thr224=)
| |
| 5 | g.135029052G>T | CA446784426 | PITX1 | c.672C>A (p.Thr224=)
| |
| 5 | g.135029053G>A | CA361027754 | PITX1 | c.671C>T (p.Thr224Ile)
| |
| 5 | g.135029053G>C | CA361027755 | PITX1 | c.671C>G (p.Thr224Ser)
| |
| 5 | g.135029053G= | CA1584339210 | PITX1 | c.671C= (p.Thr224=)
| |
| 5 | g.135029053G>T | CA128009470 | PITX1 | c.671C>A (p.Thr224Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135029054T>A | CA361027757 | PITX1 | c.670A>T (p.Thr224Ser)
| dbSNP |
| 5 | g.135029054T>C | CA361027758 | PITX1 | c.670A>G (p.Thr224Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135029054T>G | CA361027756 | PITX1 | c.670A>C (p.Thr224Pro)
| |
| 5 | g.135029054T= | CA1584339219 | PITX1 | c.670A= (p.Thr224=)
| |
| 5 | g.135029055C>A | CA361027761 | PITX1 | c.669G>T (p.Met223Ile)
| |
| 5 | g.135029055C>G | CA361027759 | PITX1 | c.669G>C (p.Met223Ile)
| |
| 5 | g.135029055C>T | CA361027760 | PITX1 | c.669G>A (p.Met223Ile)
| |
| 5 | g.135029056A>C | CA361027762 | PITX1 | c.668T>G (p.Met223Arg)
| |
| 5 | g.135029056A>G | CA361027763 | PITX1 | c.668T>C (p.Met223Thr)
| |
| 5 | g.135029056A>T | CA361027764 | PITX1 | c.668T>A (p.Met223Lys)
| |
| 5 | g.135029057T>A | CA361027765 | PITX1 | c.667A>T (p.Met223Leu)
| |
| 5 | g.135029057T>C | CA361027766 | PITX1 | c.667A>G (p.Met223Val)
| gnomAD v4 |
| 5 | g.135029057T>G | CA361027767 | PITX1 | c.667A>C (p.Met223Leu)
| |
| 5 | g.135029058G>A | CA446784427 | PITX1 | c.666C>T (p.Ser222=)
| dbSNP gnomAD v4 |
| 5 | g.135029058G>C | CA446784428 | PITX1 | c.666C>G (p.Ser222=)
| |
| 5 | g.135029058G= | CA1584339250 | PITX1 | c.666C= (p.Ser222=)
| |
| 5 | g.135029058G>T | CA446784429 | PITX1 | c.666C>A (p.Ser222=)
| |
| 5 | g.135029062_135029064del | CA2675353695 | PITX1 | c.664_666del (p.Ser222del)
| gnomAD v4 |
| 5 | g.135029059G>A | CA361027768 | PITX1 | c.665C>T (p.Ser222Phe)
| |
| 5 | g.135029059G>C | CA361027769 | PITX1 | c.665C>G (p.Ser222Cys)
| |
| 5 | g.135029059G>T | CA361027770 | PITX1 | c.665C>A (p.Ser222Tyr)
| |
| 5 | g.135029060A>C | CA361027773 | PITX1 | c.664T>G (p.Ser222Ala)
| |
| 5 | g.135029060A>G | CA361027772 | PITX1 | c.664T>C (p.Ser222Pro)
| |
| 5 | g.135029060A>T | CA361027771 | PITX1 | c.664T>A (p.Ser222Thr)
| |
| 5 | g.135029061G>A | CA446784430 | PITX1 | c.663C>T (p.Ser221=)
| dbSNP gnomAD v4 |
| 5 | g.135029061G>C | CA446784432 | PITX1 | c.663C>G (p.Ser221=)
| |
| 5 | g.135029061G= | CA1584339255 | PITX1 | c.663C= (p.Ser221=)
| |
| 5 | g.135029061G>T | CA446784431 | PITX1 | c.663C>A (p.Ser221=)
| |
| 5 | g.135029062G>A | CA361027774 | PITX1 | c.662C>T (p.Ser221Phe)
| |
| 5 | g.135029062G>C | CA361027775 | PITX1 | c.662C>G (p.Ser221Cys)
| |
| 5 | g.135029062G>T | CA361027776 | PITX1 | c.662C>A (p.Ser221Tyr)
| |
| 5 | g.135029063A>C | CA361027777 | PITX1 | c.661T>G (p.Ser221Ala)
| |
| 5 | g.135029063A>G | CA361027778 | PITX1 | c.661T>C (p.Ser221Pro)
| |
| 5 | g.135029063A>T | CA361027779 | PITX1 | c.661T>A (p.Ser221Thr)
| gnomAD v4 |
| 5 | g.135029064G>A | CA446784433 | PITX1 | c.660C>T (p.Ile220=)
| |
| 5 | g.135029064G>C | CA361027780 | PITX1 | c.660C>G (p.Ile220Met)
| |
| 5 | g.135029064G>T | CA446784434 | PITX1 | c.660C>A (p.Ile220=)
| |
| 5 | g.135029065A>C | CA361027781 | PITX1 | c.659T>G (p.Ile220Ser)
| |
| 5 | g.135029065A>G | CA361027782 | PITX1 | c.659T>C (p.Ile220Thr)
| |
| 5 | g.135029065A>T | CA361027783 | PITX1 | c.659T>A (p.Ile220Asn)
| |
| 5 | g.135029066T>A | CA361027784 | PITX1 | c.658A>T (p.Ile220Phe)
| |
| 5 | g.135029066T>C | CA361027785 | PITX1 | c.658A>G (p.Ile220Val)
| |
| 5 | g.135029066T>G | CA361027786 | PITX1 | c.658A>C (p.Ile220Leu)
| |
| 5 | g.135029067G>A | CA446784435 | PITX1 | c.657C>T (p.Ser219=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.135029067G>C | CA446784436 | PITX1 | c.657C>G (p.Ser219=)
| |
| 5 | g.135029067G>T | CA446784437 | PITX1 | c.657C>A (p.Ser219=)
| |
| 5 | g.135029068G>A | CA361027788 | PITX1 | c.656C>T (p.Ser219Phe)
| |
| 5 | g.135029068G>C | CA361027789 | PITX1 | c.656C>G (p.Ser219Cys)
| gnomAD v3 gnomAD v4 |
| 5 | g.135029068G>T | CA361027787 | PITX1 | c.656C>A (p.Ser219Tyr)
| |
| 5 | g.135029069A>C | CA361027790 | PITX1 | c.655T>G (p.Ser219Ala)
| |
| 5 | g.135029069A>G | CA361027791 | PITX1 | c.655T>C (p.Ser219Pro)
| |
| 5 | g.135029069A>T | CA361027792 | PITX1 | c.655T>A (p.Ser219Thr)
| |
| 5 | g.135029070G>A | CA446784438 | PITX1 | c.654C>T (p.Ser218=)
| |
| 5 | g.135029070G>C | CA361027793 | PITX1 | c.654C>G (p.Ser218Arg)
| |
| 5 | g.135029070G>T | CA361027794 | PITX1 | c.654C>A (p.Ser218Arg)
| |
| 5 | g.135029071C>A | CA361027795 | PITX1 | c.653G>T (p.Ser218Ile)
| |
| 5 | g.135029071C= | CA1584339257 | PITX1 | c.653G= (p.Ser218=)
| |
| 5 | g.135029071C>G | CA361027796 | PITX1 | c.653G>C (p.Ser218Thr)
| |
| 5 | g.135029071C>T | CA361027797 | PITX1 | c.653G>A (p.Ser218Asn)
| dbSNP gnomAD v4 |
| 5 | g.135029072T>A | CA361027798 | PITX1 | c.652A>T (p.Ser218Cys)
| |
| 5 | g.135029072T>C | CA361027799 | PITX1 | c.652A>G (p.Ser218Gly)
| dbSNP |
| 5 | g.135029072T>G | CA361027800 | PITX1 | c.652A>C (p.Ser218Arg)
| |
| 5 | g.135029073G>A | CA446784439 | PITX1 | c.651C>T (p.Pro217=)
| |
| 5 | g.135029073G>C | CA3417566 | PITX1 | c.651C>G (p.Pro217=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135029073G= | CA1584339260 | PITX1 | c.651C= (p.Pro217=)
| |
| 5 | g.135029073G>T | CA446784440 | PITX1 | c.651C>A (p.Pro217=)
| |
| 5 | g.135029074G>A | CA361027802 | PITX1 | c.650C>T (p.Pro217Leu)
| |
| 5 | g.135029074G>C | CA361027803 | PITX1 | c.650C>G (p.Pro217Arg)
| |
| 5 | g.135029074G>T | CA361027801 | PITX1 | c.650C>A (p.Pro217His)
| |
| 5 | g.135029075G>A | CA361027804 | PITX1 | c.649C>T (p.Pro217Ser)
| gnomAD v4 |
| 5 | g.135029075G>C | CA361027805 | PITX1 | c.649C>G (p.Pro217Ala)
| |
| 5 | g.135029075G>T | CA361027806 | PITX1 | c.649C>A (p.Pro217Thr)
| gnomAD v4 |
| 5 | g.135029076T>A | CA446784441 | PITX1 | c.648A>T (p.Ala216=)
| |
| 5 | g.135029076T>C | CA446784442 | PITX1 | c.648A>G (p.Ala216=)
| dbSNP |
| 5 | g.135029076T>G | CA446784443 | PITX1 | c.648A>C (p.Ala216=)
| |
| 5 | g.135029076T= | CA1584339262 | PITX1 | c.648A= (p.Ala216=)
| |
