UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC | CA1584338948 | PITX1 | c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC (p.Ser255=) | |
| 5 | g.135028929_135028963del | CA213051 | PITX1 | c.765_799del (p.Ala256ArgfsTer?) | ClinVar dbSNP |
| 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) | |
| 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) |