| 5 | g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC | CA1584338948 | PITX1 | c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC (p.Ser255=)
| |
| 5 | g.135028929_135028963del | CA213051 | PITX1 | c.765_799del (p.Ala256ArgfsTer?)
| ClinVar dbSNP |
| 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)
| |
| 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 |
