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.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339741C>A | CA361620448 | POU4F3 | c.314C>A (p.Ser105Ter) | |
| 5 | g.146339741C= | CA1589086591 | POU4F3 | c.314C= (p.Ser105=) | |
| 5 | g.146339741C>G | CA361620449 | POU4F3 | c.314C>G (p.Ser105Ter) | |
| 5 | g.146339741C>T | CA361620450 | POU4F3 | c.314C>T (p.Ser105Leu) | dbSNP gnomAD v2 |
| 5 | g.146339742A>C | CA446918822 | POU4F3 | c.315A>C (p.Ser105=) | |
| 5 | g.146339742A>G | CA446918823 | POU4F3 | c.315A>G (p.Ser105=) | |
| 5 | g.146339742A>T | CA446918825 | POU4F3 | c.315A>T (p.Ser105=) | |
| 5 | g.146339743C>A | CA361620451 | POU4F3 | c.316C>A (p.His106Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339743C= | CA1589086592 | POU4F3 | c.316C= (p.His106=) | |
| 5 | g.146339743C>G | CA361620453 | POU4F3 | c.316C>G (p.His106Asp) | |
| 5 | g.146339743C>T | CA361620452 | POU4F3 | c.316C>T (p.His106Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339744A>C | CA361620454 | POU4F3 | c.317A>C (p.His106Pro) | |
| 5 | g.146339744A>G | CA361620455 | POU4F3 | c.317A>G (p.His106Arg) | |
| 5 | g.146339744A>T | CA361620456 | POU4F3 | c.317A>T (p.His106Leu) | |
| 5 | g.146339745C>A | CA3491103 | POU4F3 | c.318C>A (p.His106Gln) | dbSNP ExAC gnomAD v4 |
| 5 | g.146339745C= | CA1589086593 | POU4F3 | c.318C= (p.His106=) | |
| 5 | g.146339745C>G | CA361620457 | POU4F3 | c.318C>G (p.His106Gln) | gnomAD v4 |
| 5 | g.146339745C>T | CA446918832 | POU4F3 | c.318C>T (p.His106=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339746C>A | CA361620458 | POU4F3 | c.319C>A (p.Pro107Thr) | |
| 5 | g.146339746C>G | CA361620459 | POU4F3 | c.319C>G (p.Pro107Ala) | |
| 5 | g.146339746C>T | CA361620460 | POU4F3 | c.319C>T (p.Pro107Ser) | gnomAD v4 |
| 5 | g.146339747C>A | CA361620461 | POU4F3 | c.320C>A (p.Pro107His) | |
| 5 | g.146339747C>G | CA361620462 | POU4F3 | c.320C>G (p.Pro107Arg) | |
| 5 | g.146339747C>T | CA361620463 | POU4F3 | c.320C>T (p.Pro107Leu) | gnomAD v4 |
| 5 | g.146339748T>A | CA446918839 | POU4F3 | c.321T>A (p.Pro107=) | |
| 5 | g.146339748T>C | CA446918841 | POU4F3 | c.321T>C (p.Pro107=) | |
| 5 | g.146339748T>G | CA446918842 | POU4F3 | c.321T>G (p.Pro107=) | |
| 5 | g.146339749C>A | CA361620465 | POU4F3 | c.322C>A (p.His108Asn) | |
| 5 | g.146339749C>G | CA361620466 | POU4F3 | c.322C>G (p.His108Asp) | |
| 5 | g.146339749C>T | CA361620464 | POU4F3 | c.322C>T (p.His108Tyr) | gnomAD v4 |
| 5 | g.146339750A>C | CA361620467 | POU4F3 | c.323A>C (p.His108Pro) | |
| 5 | g.146339750A>G | CA361620469 | POU4F3 | c.323A>G (p.His108Arg) | |
| 5 | g.146339750A>T | CA361620468 | POU4F3 | c.323A>T (p.His108Leu) | |
| 5 | g.146339751C>A | CA361620470 | POU4F3 | c.324C>A (p.His108Gln) | |
| 5 | g.146339751C>G | CA361620471 | POU4F3 | c.324C>G (p.His108Gln) | gnomAD v4 |
| 5 | g.146339751C>T | CA446918849 | POU4F3 | c.324C>T (p.His108=) | |
| 5 | g.146339752C>A | CA361620472 | POU4F3 | c.325C>A (p.His109Asn) | gnomAD v4 |
| 5 | g.146339752C= | CA1589086594 | POU4F3 | c.325C= (p.His109=) | |
| 5 | g.146339752C>G | CA361620473 | POU4F3 | c.325C>G (p.His109Asp) | |
| 5 | g.146339752C>T | CA3491104 | POU4F3 | c.325C>T (p.His109Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339753A>C | CA361620474 | POU4F3 | c.326A>C (p.His109Pro) | |
| 5 | g.146339753A>G | CA361620475 | POU4F3 | c.326A>G (p.His109Arg) | |
| 5 | g.146339753A>T | CA361620476 | POU4F3 | c.326A>T (p.His109Leu) | |
| 5 | g.146339754C>A | CA361620477 | POU4F3 | c.327C>A (p.His109Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339754C= | CA1589086595 | POU4F3 | c.327C= (p.His109=) | |
| 5 | g.146339754C>G | CA361620478 | POU4F3 | c.327C>G (p.His109Gln) | |
| 5 | g.146339754C>T | CA446918858 | POU4F3 | c.327C>T (p.His109=) | |
| 5 | g.146339755G>A | CA361620479 | POU4F3 | c.328G>A (p.Ala110Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146339755G>C | CA361620480 | POU4F3 | c.328G>C (p.Ala110Pro) | gnomAD v4 |
| 5 | g.146339755G= | CA1589086596 | POU4F3 | c.328G= (p.Ala110=) | |
| 5 | g.146339755G>T | CA361620481 | POU4F3 | c.328G>T (p.Ala110Ser) | |
| 5 | g.146339756C>A | CA361620484 | POU4F3 | c.329C>A (p.Ala110Asp) | |
| 5 | g.146339756C>G | CA361620483 | POU4F3 | c.329C>G (p.Ala110Gly) | |
| 5 | g.146339756C>T | CA361620482 | POU4F3 | c.329C>T (p.Ala110Val) | |
| 5 | g.146339757C>A | CA446918862 | POU4F3 | c.330C>A (p.Ala110=) | |
| 5 | g.146339757C= | CA1589086597 | POU4F3 | c.330C= (p.Ala110=) | |
| 5 | g.146339757C>G | CA446918863 | POU4F3 | c.330C>G (p.Ala110=) | |
| 5 | g.146339757C>T | CA3491105 | POU4F3 | c.330C>T (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339758G>A | CA361620485 | POU4F3 | c.331G>A (p.Val111Met) | gnomAD v4 COSMIC |
| 5 | g.146339758G>C | CA361620486 | POU4F3 | c.331G>C (p.Val111Leu) | |
| 5 | g.146339758G>T | CA361620487 | POU4F3 | c.331G>T (p.Val111Leu) | gnomAD v4 |
| 5 | g.146339759T>A | CA361620488 | POU4F3 | c.332T>A (p.Val111Glu) | |
| 5 | g.146339759T>C | CA361620489 | POU4F3 | c.332T>C (p.Val111Ala) | |
| 5 | g.146339759T>G | CA361620490 | POU4F3 | c.332T>G (p.Val111Gly) | |
| 5 | g.146339760G>A | CA3491106 | POU4F3 | c.333G>A (p.Val111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339760G>C | CA447097601 | POU4F3 | c.333G>C (p.Val111=) | |
| 5 | g.146339760G= | CA1589086598 | POU4F3 | c.333G= (p.Val111=) | |
| 5 | g.146339760G>T | CA447097600 | POU4F3 | c.333G>T (p.Val111=) | |
| 5 | g.146339761C>A | CA361620491 | POU4F3 | c.334C>A (p.His112Asn) | |
| 5 | g.146339761C>G | CA361620492 | POU4F3 | c.334C>G (p.His112Asp) | |
| 5 | g.146339761C>T | CA361620493 | POU4F3 | c.334C>T (p.His112Tyr) | |
| 5 | g.146339762A>C | CA361620494 | POU4F3 | c.335A>C (p.His112Pro) | |
| 5 | g.146339762A>G | CA361620495 | POU4F3 | c.335A>G (p.His112Arg) | |
| 5 | g.146339762A>T | CA361620496 | POU4F3 | c.335A>T (p.His112Leu) | |
| 5 | g.146339763C>A | CA361620497 | POU4F3 | c.336C>A (p.His112Gln) | |
| 5 | g.146339763C= | CA1589086599 | POU4F3 | c.336C= (p.His112=) | |
| 5 | g.146339763C>G | CA3491107 | POU4F3 | c.336C>G (p.His112Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339763C>T | CA3491108 | POU4F3 | c.336C>T (p.His112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339764C>A | CA361620498 | POU4F3 | c.337C>A (p.Gln113Lys) | |
| 5 | g.146339764C>G | CA361620499 | POU4F3 | c.337C>G (p.Gln113Glu) | |
| 5 | g.146339764C>T | CA361620500 | POU4F3 | c.337C>T (p.Gln113Ter) | |
| 5 | g.146339764_146339765delinsCA | CA1589086600 | POU4F3 | c.337_338delinsCA (p.Gln113=) | |
| 5 | g.146339765del | CA3491109 | POU4F3 | c.338del (p.Gln113ArgfsTer15) | dbSNP ExAC gnomAD v2 |
| 5 | g.146339765A= | CA1589086601 | POU4F3 | c.338A= (p.Gln113=) | |
| 5 | g.146339765A>C | CA361620501 | POU4F3 | c.338A>C (p.Gln113Pro) | |
| 5 | g.146339765A>G | CA3491110 | POU4F3 | c.338A>G (p.Gln113Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339765A>T | CA361620502 | POU4F3 | c.338A>T (p.Gln113Leu) | |
| 5 | g.146339766G>A | CA447097602 | POU4F3 | c.339G>A (p.Gln113=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339766G>C | CA361620503 | POU4F3 | c.339G>C (p.Gln113His) | gnomAD v4 |
| 5 | g.146339766G= | CA1589086602 | POU4F3 | c.339G= (p.Gln113=) | |
| 5 | g.146339766G>T | CA361620504 | POU4F3 | c.339G>T (p.Gln113His) | |
| 5 | g.146339767G>A | CA361620505 | POU4F3 | c.340G>A (p.Gly114Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339767G>C | CA3491111 | POU4F3 | c.340G>C (p.Gly114Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339767G= | CA1589086603 | POU4F3 | c.340G= (p.Gly114=) | |
| 5 | g.146339767G>T | CA361620506 | POU4F3 | c.340G>T (p.Gly114Cys) | |
| 5 | g.146339768G>A | CA3491112 | POU4F3 | c.341G>A (p.Gly114Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339768G>C | CA361620507 | POU4F3 | c.341G>C (p.Gly114Ala) | |
| 5 | g.146339768G= | CA1589086604 | POU4F3 | c.341G= (p.Gly114=) | |
| 5 | g.146339768G>T | CA361620508 | POU4F3 | c.341G>T (p.Gly114Val) | dbSNP |
| 5 | g.146339769C>A | CA447097603 | POU4F3 | c.342C>A (p.Gly114=) | gnomAD v4 |
| 5 | g.146339769C>G | CA447097604 | POU4F3 | c.342C>G (p.Gly114=) | |
| 5 | g.146339769C>T | CA447097605 | POU4F3 | c.342C>T (p.Gly114=) | |
| 5 | g.146339770C>A | CA128860704 | POU4F3 | c.343C>A (p.Leu115Ile) | dbSNP |
| 5 | g.146339770C= | CA1589086605 | POU4F3 | c.343C= (p.Leu115=) | |
| 5 | g.146339770C>G | CA361620509 | POU4F3 | c.343C>G (p.Leu115Val) | |
| 5 | g.146339770C>T | CA361620510 | POU4F3 | c.343C>T (p.Leu115Phe) | |
| 5 | g.146339771T>A | CA361620511 | POU4F3 | c.344T>A (p.Leu115His) | |
| 5 | g.146339771T>C | CA361620512 | POU4F3 | c.344T>C (p.Leu115Pro) | |
| 5 | g.146339771T>G | CA361620513 | POU4F3 | c.344T>G (p.Leu115Arg) | |
| 5 | g.146339772C>A | CA128860705 | POU4F3 | c.345C>A (p.Leu115=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339772C= | CA1589086606 | POU4F3 | c.345C= (p.Leu115=) | |
| 5 | g.146339772C>G | CA447097606 | POU4F3 | c.345C>G (p.Leu115=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339772C>T | CA447097607 | POU4F3 | c.345C>T (p.Leu115=) | COSMIC |
| 5 | g.146339773G>A | CA3491113 | POU4F3 | c.346G>A (p.Glu116Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146339773G>C | CA361620514 | POU4F3 | c.346G>C (p.Glu116Gln) | |
| 5 | g.146339773G= | CA1589086607 | POU4F3 | c.346G= (p.Glu116=) | |
| 5 | g.146339773G>T | CA361620515 | POU4F3 | c.346G>T (p.Glu116Ter) | |
| 5 | g.146339774A>C | CA361620516 | POU4F3 | c.347A>C (p.Glu116Ala) | |
| 5 | g.146339774A>G | CA361620517 | POU4F3 | c.347A>G (p.Glu116Gly) | |
| 5 | g.146339774A>T | CA361620518 | POU4F3 | c.347A>T (p.Glu116Val) | |
| 5 | g.146339775A>C | CA361620519 | POU4F3 | c.348A>C (p.Glu116Asp) | |
| 5 | g.146339775A>G | CA447097608 | POU4F3 | c.348A>G (p.Glu116=) | |
| 5 | g.146339775A>T | CA361620520 | POU4F3 | c.348A>T (p.Glu116Asp) | |
| 5 | g.146339776G>A | CA361620521 | POU4F3 | c.349G>A (p.Gly117Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339776G>C | CA361620523 | POU4F3 | c.349G>C (p.Gly117Arg) | |
| 5 | g.146339776G= | CA1589086608 | POU4F3 | c.349G= (p.Gly117=) | |
| 5 | g.146339776G>T | CA361620522 | POU4F3 | c.349G>T (p.Gly117Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339777G>A | CA361620524 | POU4F3 | c.350G>A (p.Gly117Asp) | |
| 5 | g.146339777G>C | CA361620525 | POU4F3 | c.350G>C (p.Gly117Ala) | |
| 5 | g.146339777G>T | CA361620526 | POU4F3 | c.350G>T (p.Gly117Val) | gnomAD v4 |
| 5 | g.146339778C>A | CA447097611 | POU4F3 | c.351C>A (p.Gly117=) | gnomAD v4 |
| 5 | g.146339778C= | CA1589086609 | POU4F3 | c.351C= (p.Gly117=) | |
| 5 | g.146339778C>G | CA447097609 | POU4F3 | c.351C>G (p.Gly117=) | |
| 5 | g.146339778C>T | CA447097610 | POU4F3 | c.351C>T (p.Gly117=) | dbSNP gnomAD v4 |
| 5 | g.146339779G>A | CA361620527 | POU4F3 | c.352G>A (p.Asp118Asn) | gnomAD v4 |
| 5 | g.146339779G>C | CA361620528 | POU4F3 | c.352G>C (p.Asp118His) | dbSNP |
| 5 | g.146339779G= | CA1589086610 | POU4F3 | c.352G= (p.Asp118=) | |
| 5 | g.146339779G>T | CA361620529 | POU4F3 | c.352G>T (p.Asp118Tyr) | gnomAD v4 |
| 5 | g.146339780A= | CA1589086611 | POU4F3 | c.353A= (p.Asp118=) | |
| 5 | g.146339780A>C | CA361620530 | POU4F3 | c.353A>C (p.Asp118Ala) | |
| 5 | g.146339780A>G | CA361620531 | POU4F3 | c.353A>G (p.Asp118Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339780A>T | CA361620532 | POU4F3 | c.353A>T (p.Asp118Val) | |
| 5 | g.146339781C>A | CA361620533 | POU4F3 | c.354C>A (p.Asp118Glu) | |
| 5 | g.146339781C= | CA1589086612 | POU4F3 | c.354C= (p.Asp118=) | |
| 5 | g.146339781C>G | CA361620534 | POU4F3 | c.354C>G (p.Asp118Glu) | |
| 5 | g.146339781C>T | CA447097612 | POU4F3 | c.354C>T (p.Asp118=) | dbSNP |
| 5 | g.146339782C>A | CA361620536 | POU4F3 | c.355C>A (p.Leu119Met) | |
| 5 | g.146339782C= | CA1589086613 | POU4F3 | c.355C= (p.Leu119=) | |
| 5 | g.146339782C>G | CA361620535 | POU4F3 | c.355C>G (p.Leu119Val) | |
| 5 | g.146339782C>T | CA447097613 | POU4F3 | c.355C>T (p.Leu119=) | dbSNP gnomAD v2 |
| 5 | g.146339783T>A | CA361620537 | POU4F3 | c.356T>A (p.Leu119Gln) | |
| 5 | g.146339783T>C | CA361620538 | POU4F3 | c.356T>C (p.Leu119Pro) | |
| 5 | g.146339783T>G | CA361620539 | POU4F3 | c.356T>G (p.Leu119Arg) | |
| 5 | g.146339784G>A | CA3491114 | POU4F3 | c.357G>A (p.Leu119=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.146339784G>C | CA447097614 | POU4F3 | c.357G>C (p.Leu119=) | dbSNP |
| 5 | g.146339784G= | CA1589086614 | POU4F3 | c.357G= (p.Leu119=) | |
| 5 | g.146339784G>T | CA447097615 | POU4F3 | c.357G>T (p.Leu119=) | |
| 5 | g.146339785C>A | CA361620540 | POU4F3 | c.358C>A (p.Leu120Met) | |
| 5 | g.146339785C>G | CA361620541 | POU4F3 | c.358C>G (p.Leu120Val) | |
| 5 | g.146339785C>T | CA447097616 | POU4F3 | c.358C>T (p.Leu120=) | |
| 5 | g.146339786T>A | CA361620542 | POU4F3 | c.359T>A (p.Leu120Gln) | |
| 5 | g.146339786T>C | CA361620543 | POU4F3 | c.359T>C (p.Leu120Pro) | |
| 5 | g.146339786T>G | CA361620544 | POU4F3 | c.359T>G (p.Leu120Arg) | |
| 5 | g.146339787G>A | CA128860706 | POU4F3 | c.360G>A (p.Leu120=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339787G>C | CA447097617 | POU4F3 | c.360G>C (p.Leu120=) | |
| 5 | g.146339787G= | CA1589086615 | POU4F3 | c.360G= (p.Leu120=) | |
| 5 | g.146339787G>T | CA447097618 | POU4F3 | c.360G>T (p.Leu120=) | |
| 5 | g.146339788G>A | CA361620545 | POU4F3 | c.361G>A (p.Glu121Lys) | gnomAD v4 |
| 5 | g.146339788G>C | CA361620546 | POU4F3 | c.361G>C (p.Glu121Gln) | |
| 5 | g.146339788G>T | CA361620547 | POU4F3 | c.361G>T (p.Glu121Ter) | dbSNP |
| 5 | g.146339789A>C | CA361620549 | POU4F3 | c.362A>C (p.Glu121Ala) | |
| 5 | g.146339789A>G | CA361620550 | POU4F3 | c.362A>G (p.Glu121Gly) | gnomAD v4 |
| 5 | g.146339789A>T | CA361620548 | POU4F3 | c.362A>T (p.Glu121Val) | |
| 5 | g.146339790G>A | CA447097619 | POU4F3 | c.363G>A (p.Glu121=) | dbSNP gnomAD v4 |
| 5 | g.146339790G>C | CA361620551 | POU4F3 | c.363G>C (p.Glu121Asp) | |
| 5 | g.146339790G= | CA1589086616 | POU4F3 | c.363G= (p.Glu121=) | |
| 5 | g.146339790G>T | CA361620552 | POU4F3 | c.363G>T (p.Glu121Asp) | |
| 5 | g.146339791C>A | CA361620553 | POU4F3 | c.364C>A (p.His122Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339791C= | CA1589086617 | POU4F3 | c.364C= (p.His122=) | |
| 5 | g.146339791C>G | CA128860707 | POU4F3 | c.364C>G (p.His122Asp) | dbSNP |
| 5 | g.146339791C>T | CA128860710 | POU4F3 | c.364C>T (p.His122Tyr) | dbSNP gnomAD v4 |
| 5 | g.146339792A>C | CA361620554 | POU4F3 | c.365A>C (p.His122Pro) | |
| 5 | g.146339792A>G | CA361620555 | POU4F3 | c.365A>G (p.His122Arg) | |
| 5 | g.146339792A>T | CA361620556 | POU4F3 | c.365A>T (p.His122Leu) | |
| 5 | g.146339793C>A | CA361620557 | POU4F3 | c.366C>A (p.His122Gln) | |
| 5 | g.146339793C= | CA1589086618 | POU4F3 | c.366C= (p.His122=) | |
| 5 | g.146339793C>G | CA361620558 | POU4F3 | c.366C>G (p.His122Gln) | |
| 5 | g.146339793C>T | CA447097620 | POU4F3 | c.366C>T (p.His122=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339794del | CA2695205583 | POU4F3 | c.367del (p.Ile123SerfsTer5) | |
| 5 | g.146339794A= | CA1589086619 | POU4F3 | c.367A= (p.Ile123=) | |
| 5 | g.146339794A>C | CA361620559 | POU4F3 | c.367A>C (p.Ile123Leu) | |
| 5 | g.146339794A>G | CA128860719 | POU4F3 | c.367A>G (p.Ile123Val) | dbSNP gnomAD v4 |
| 5 | g.146339794A>T | CA361620560 | POU4F3 | c.367A>T (p.Ile123Phe) | |
| 5 | g.146339795T>A | CA361620563 | POU4F3 | c.368T>A (p.Ile123Asn) | |
| 5 | g.146339795T>C | CA361620562 | POU4F3 | c.368T>C (p.Ile123Thr) | gnomAD v4 |
| 5 | g.146339795T>G | CA361620561 | POU4F3 | c.368T>G (p.Ile123Ser) | |
| 5 | g.146339796C>A | CA447097621 | POU4F3 | c.369C>A (p.Ile123=) | gnomAD v4 |
| 5 | g.146339796C>G | CA361620564 | POU4F3 | c.369C>G (p.Ile123Met) | |
| 5 | g.146339796C>T | CA447097622 | POU4F3 | c.369C>T (p.Ile123=) | |
| 5 | g.146339797T>A | CA361620565 | POU4F3 | c.370T>A (p.Ser124Thr) | |
| 5 | g.146339797T>C | CA361620566 | POU4F3 | c.370T>C (p.Ser124Pro) | gnomAD v4 |
| 5 | g.146339797T>G | CA361620567 | POU4F3 | c.370T>G (p.Ser124Ala) | |
| 5 | g.146339798C>A | CA361620568 | POU4F3 | c.371C>A (p.Ser124Ter) | |
| 5 | g.146339798C= | CA1589086620 | POU4F3 | c.371C= (p.Ser124=) | |
| 5 | g.146339798C>G | CA361620569 | POU4F3 | c.371C>G (p.Ser124Trp) | |
| 5 | g.146339798C>T | CA3491115 | POU4F3 | c.371C>T (p.Ser124Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339799G>A | CA447097623 | POU4F3 | c.372G>A (p.Ser124=) | gnomAD v4 |
| 5 | g.146339799G>C | CA447097624 | POU4F3 | c.372G>C (p.Ser124=) | |
| 5 | g.146339799G>T | CA447097625 | POU4F3 | c.372G>T (p.Ser124=) | gnomAD v4 |
| 5 | g.146339800C>A | CA361620570 | POU4F3 | c.373C>A (p.Pro125Thr) | |
| 5 | g.146339800C= | CA1589086621 | POU4F3 | c.373C= (p.Pro125=) | |
| 5 | g.146339800C>G | CA361620571 | POU4F3 | c.373C>G (p.Pro125Ala) | |
| 5 | g.146339800C>T | CA361620572 | POU4F3 | c.373C>T (p.Pro125Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339801C>A | CA361620573 | POU4F3 | c.374C>A (p.Pro125His) | gnomAD v4 |
| 5 | g.146339801C= | CA1589086622 | POU4F3 | c.374C= (p.Pro125=) | |
| 5 | g.146339801C>G | CA361620574 | POU4F3 | c.374C>G (p.Pro125Arg) | gnomAD v4 |
| 5 | g.146339801C>T | CA361620575 | POU4F3 | c.374C>T (p.Pro125Leu) | ClinVar dbSNP |
| 5 | g.146339802C>A | CA447097626 | POU4F3 | c.375C>A (p.Pro125=) | |
| 5 | g.146339802C= | CA1589086623 | POU4F3 | c.375C= (p.Pro125=) | |
| 5 | g.146339802C>G | CA447097627 | POU4F3 | c.375C>G (p.Pro125=) | |
| 5 | g.146339802C>T | CA447097628 | POU4F3 | c.375C>T (p.Pro125=) | dbSNP gnomAD v2 |
| 5 | g.146339803A>C | CA361620576 | POU4F3 | c.376A>C (p.Thr126Pro) | |
| 5 | g.146339803A>G | CA361620578 | POU4F3 | c.376A>G (p.Thr126Ala) | gnomAD v4 |
| 5 | g.146339803A>T | CA361620577 | POU4F3 | c.376A>T (p.Thr126Ser) | gnomAD v4 |
| 5 | g.146339804C>A | CA3491116 | POU4F3 | c.377C>A (p.Thr126Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339804C= | CA1589086624 | POU4F3 | c.377C= (p.Thr126=) | |
| 5 | g.146339804C>G | CA361620580 | POU4F3 | c.377C>G (p.Thr126Arg) | |
| 5 | g.146339804C>T | CA361620579 | POU4F3 | c.377C>T (p.Thr126Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146339805G>A | CA182699 | POU4F3 | c.378G>A (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339805G>C | CA447097629 | POU4F3 | c.378G>C (p.Thr126=) | |
| 5 | g.146339805G= | CA1589086625 | POU4F3 | c.378G= (p.Thr126=) | |
| 5 | g.146339805G>T | CA177653 | POU4F3 | c.378G>T (p.Thr126=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146339806C>A | CA3491117 | POU4F3 | c.379C>A (p.Leu127Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339806C= | CA1589086626 | POU4F3 | c.379C= (p.Leu127=) | |
| 5 | g.146339806C>G | CA361620581 | POU4F3 | c.379C>G (p.Leu127Val) | |
| 5 | g.146339806C>T | CA447097630 | POU4F3 | c.379C>T (p.Leu127=) | |
| 5 | g.146339807T>A | CA361620582 | POU4F3 | c.380T>A (p.Leu127Gln) | dbSNP gnomAD v2 |
| 5 | g.146339807T>C | CA361620583 | POU4F3 | c.380T>C (p.Leu127Pro) | gnomAD v4 |
| 5 | g.146339807T>G | CA361620584 | POU4F3 | c.380T>G (p.Leu127Arg) | |
| 5 | g.146339807T= | CA1589086627 | POU4F3 | c.380T= (p.Leu127=) | |
| 5 | g.146339808G>A | CA447097631 | POU4F3 | c.381G>A (p.Leu127=) | COSMIC |
| 5 | g.146339808G>C | CA447097632 | POU4F3 | c.381G>C (p.Leu127=) | |
| 5 | g.146339808G>T | CA447097633 | POU4F3 | c.381G>T (p.Leu127=) | gnomAD v4 |
| 5 | g.146339809A= | CA1589086628 | POU4F3 | c.382A= (p.Ser128=) | |
| 5 | g.146339809A>C | CA361620587 | POU4F3 | c.382A>C (p.Ser128Arg) | |
| 5 | g.146339809A>G | CA361620585 | POU4F3 | c.382A>G (p.Ser128Gly) | |
| 5 | g.146339809A>T | CA361620586 | POU4F3 | c.382A>T (p.Ser128Cys) | |
| 5 | g.146339810G>A | CA361620588 | POU4F3 | c.383G>A (p.Ser128Asn) | |
| 5 | g.146339810G>C | CA3491118 | POU4F3 | c.383G>C (p.Ser128Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339810G= | CA1589086629 | POU4F3 | c.383G= (p.Ser128=) | |
| 5 | g.146339810G>T | CA361620589 | POU4F3 | c.383G>T (p.Ser128Ile) | gnomAD v4 |
| 5 | g.146339811_146339814dup | CA915942687 | POU4F3 | c.384_387dup (p.Ser130CysfsTer?) | ClinVar dbSNP |
| 5 | g.146339811T>A | CA361620590 | POU4F3 | c.384T>A (p.Ser128Arg) | |
| 5 | g.146339811T>C | CA447097634 | POU4F3 | c.384T>C (p.Ser128=) | |
| 5 | g.146339811T>G | CA361620591 | POU4F3 | c.384T>G (p.Ser128Arg) | |
| 5 | g.146339812G>A | CA361620592 | POU4F3 | c.385G>A (p.Val129Met) | |
| 5 | g.146339812G>C | CA361620594 | POU4F3 | c.385G>C (p.Val129Leu) | |
| 5 | g.146339812G>T | CA361620593 | POU4F3 | c.385G>T (p.Val129Leu) | gnomAD v4 |
| 5 | g.146339813T>A | CA361620595 | POU4F3 | c.386T>A (p.Val129Glu) | dbSNP |
| 5 | g.146339813T>C | CA361620596 | POU4F3 | c.386T>C (p.Val129Ala) | |
| 5 | g.146339813T>G | CA361620597 | POU4F3 | c.386T>G (p.Val129Gly) | |
| 5 | g.146339813T= | CA1589086630 | POU4F3 | c.386T= (p.Val129=) | |
| 5 | g.146339814G>A | CA447097635 | POU4F3 | c.387G>A (p.Val129=) | dbSNP gnomAD v4 |
| 5 | g.146339814G>C | CA447097637 | POU4F3 | c.387G>C (p.Val129=) | |
| 5 | g.146339814G= | CA1589086631 | POU4F3 | c.387G= (p.Val129=) | |
| 5 | g.146339814G>T | CA447097636 | POU4F3 | c.387G>T (p.Val129=) | |
| 5 | g.146339815A>C | CA361620598 | POU4F3 | c.388A>C (p.Ser130Arg) | |
| 5 | g.146339815A>G | CA361620599 | POU4F3 | c.388A>G (p.Ser130Gly) | |
| 5 | g.146339815A>T | CA361620600 | POU4F3 | c.388A>T (p.Ser130Cys) | |
| 5 | g.146339816G>A | CA361620601 | POU4F3 | c.389G>A (p.Ser130Asn) | gnomAD v4 |
| 5 | g.146339816G>C | CA361620602 | POU4F3 | c.389G>C (p.Ser130Thr) | |
| 5 | g.146339816G>T | CA361620603 | POU4F3 | c.389G>T (p.Ser130Ile) | |
| 5 | g.146339817C>A | CA3491119 | POU4F3 | c.390C>A (p.Ser130Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339817C= | CA1589086632 | POU4F3 | c.390C= (p.Ser130=) | |
| 5 | g.146339817C>G | CA361620604 | POU4F3 | c.390C>G (p.Ser130Arg) | gnomAD v4 |
| 5 | g.146339817C>T | CA447097638 | POU4F3 | c.390C>T (p.Ser130=) | gnomAD v4 |
| 5 | g.146339818G>A | CA361620605 | POU4F3 | c.391G>A (p.Gly131Ser) | dbSNP |
| 5 | g.146339818G>C | CA361620607 | POU4F3 | c.391G>C (p.Gly131Arg) | |
| 5 | g.146339818G= | CA1589086633 | POU4F3 | c.391G= (p.Gly131=) | |
| 5 | g.146339818G>T | CA361620606 | POU4F3 | c.391G>T (p.Gly131Cys) | gnomAD v4 |
| 5 | g.146339819G>A | CA361620608 | POU4F3 | c.392G>A (p.Gly131Asp) | |
| 5 | g.146339819G>C | CA361620609 | POU4F3 | c.392G>C (p.Gly131Ala) | gnomAD v4 |
| 5 | g.146339819G>T | CA361620610 | POU4F3 | c.392G>T (p.Gly131Val) | gnomAD v4 |
| 5 | g.146339820C>A | CA447097639 | POU4F3 | c.393C>A (p.Gly131=) | dbSNP gnomAD v4 |
| 5 | g.146339820C= | CA1589086634 | POU4F3 | c.393C= (p.Gly131=) | |
| 5 | g.146339820C>G | CA447097640 | POU4F3 | c.393C>G (p.Gly131=) | |
| 5 | g.146339820C>T | CA447097641 | POU4F3 | c.393C>T (p.Gly131=) | |
| 5 | g.146339821C>A | CA361620611 | POU4F3 | c.394C>A (p.Leu132Met) | |
| 5 | g.146339821C>G | CA361620612 | POU4F3 | c.394C>G (p.Leu132Val) | |
| 5 | g.146339821C>T | CA447097642 | POU4F3 | c.394C>T (p.Leu132=) | gnomAD v4 |
| 5 | g.146339822T>A | CA361620613 | POU4F3 | c.395T>A (p.Leu132Gln) | |
| 5 | g.146339822T>C | CA361620614 | POU4F3 | c.395T>C (p.Leu132Pro) | |
| 5 | g.146339822T>G | CA361620615 | POU4F3 | c.395T>G (p.Leu132Arg) | |
| 5 | g.146339823G>A | CA447097643 | POU4F3 | c.396G>A (p.Leu132=) | |
| 5 | g.146339823G>C | CA447097644 | POU4F3 | c.396G>C (p.Leu132=) | |
| 5 | g.146339823G>T | CA447097645 | POU4F3 | c.396G>T (p.Leu132=) | gnomAD v4 |
| 5 | g.146339824G>A | CA361620616 | POU4F3 | c.397G>A (p.Gly133Ser) | |
| 5 | g.146339824G>C | CA361620617 | POU4F3 | c.397G>C (p.Gly133Arg) | |
| 5 | g.146339824G>T | CA361620618 | POU4F3 | c.397G>T (p.Gly133Cys) | |
| 5 | g.146339825G>A | CA361620621 | POU4F3 | c.398G>A (p.Gly133Asp) | dbSNP gnomAD v4 |
| 5 | g.146339825G>C | CA361620620 | POU4F3 | c.398G>C (p.Gly133Ala) | |
| 5 | g.146339825G= | CA1589086635 | POU4F3 | c.398G= (p.Gly133=) | |
| 5 | g.146339825G>T | CA361620619 | POU4F3 | c.398G>T (p.Gly133Val) | |
| 5 | g.146339826C>A | CA447097646 | POU4F3 | c.399C>A (p.Gly133=) | gnomAD v4 |
| 5 | g.146339826C>G | CA447097647 | POU4F3 | c.399C>G (p.Gly133=) | |
| 5 | g.146339826C>T | CA447097648 | POU4F3 | c.399C>T (p.Gly133=) | |
| 5 | g.146339827G>A | CA3491120 | POU4F3 | c.400G>A (p.Ala134Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146339827G>C | CA361620622 | POU4F3 | c.400G>C (p.Ala134Pro) | |
| 5 | g.146339827G= | CA1589086636 | POU4F3 | c.400G= (p.Ala134=) | |
| 5 | g.146339827G>T | CA3491121 | POU4F3 | c.400G>T (p.Ala134Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339828C>A | CA361620623 | POU4F3 | c.401C>A (p.Ala134Asp) | gnomAD v4 |
| 5 | g.146339828C>G | CA361620624 | POU4F3 | c.401C>G (p.Ala134Gly) | |
| 5 | g.146339828C>T | CA361620625 | POU4F3 | c.401C>T (p.Ala134Val) | gnomAD v4 |
| 5 | g.146339829T>A | CA447097649 | POU4F3 | c.402T>A (p.Ala134=) | |
| 5 | g.146339829T>C | CA447097650 | POU4F3 | c.402T>C (p.Ala134=) | |
| 5 | g.146339829T>G | CA447097651 | POU4F3 | c.402T>G (p.Ala134=) | |
| 5 | g.146339830C>A | CA361620626 | POU4F3 | c.403C>A (p.Pro135Thr) | |
| 5 | g.146339830C= | CA1589086637 | POU4F3 | c.403C= (p.Pro135=) | |
| 5 | g.146339830C>G | CA361620627 | POU4F3 | c.403C>G (p.Pro135Ala) | |
| 5 | g.146339830C>T | CA177655 | POU4F3 | c.403C>T (p.Pro135Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339831C>A | CA361620628 | POU4F3 | c.404C>A (p.Pro135Gln) | |
| 5 | g.146339831C= | CA1589086638 | POU4F3 | c.404C= (p.Pro135=) | |
| 5 | g.146339831C>G | CA361620629 | POU4F3 | c.404C>G (p.Pro135Arg) | |
| 5 | g.146339831C>T | CA361620630 | POU4F3 | c.404C>T (p.Pro135Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146339832G>A | CA3491122 | POU4F3 | c.405G>A (p.Pro135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339832G>C | CA447097652 | POU4F3 | c.405G>C (p.Pro135=) | |
| 5 | g.146339832G= | CA1589086639 | POU4F3 | c.405G= (p.Pro135=) | |
| 5 | g.146339832G>T | CA447097653 | POU4F3 | c.405G>T (p.Pro135=) | gnomAD v4 COSMIC |
| 5 | g.146339833G>A | CA3491123 | POU4F3 | c.406G>A (p.Glu136Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339833G>C | CA361620631 | POU4F3 | c.406G>C (p.Glu136Gln) | ClinVar |
| 5 | g.146339833G= | CA1589086640 | POU4F3 | c.406G= (p.Glu136=) | |
| 5 | g.146339833G>T | CA361620632 | POU4F3 | c.406G>T (p.Glu136Ter) | gnomAD v4 |
| 5 | g.146339834A>C | CA361620633 | POU4F3 | c.407A>C (p.Glu136Ala) | |
| 5 | g.146339834A>G | CA361620634 | POU4F3 | c.407A>G (p.Glu136Gly) | |
| 5 | g.146339834A>T | CA361620635 | POU4F3 | c.407A>T (p.Glu136Val) | |
| 5 | g.146339835A>C | CA361620636 | POU4F3 | c.408A>C (p.Glu136Asp) | |
| 5 | g.146339835A>G | CA447097654 | POU4F3 | c.408A>G (p.Glu136=) | |
| 5 | g.146339835A>T | CA361620637 | POU4F3 | c.408A>T (p.Glu136Asp) | |
| 5 | g.146339836C>A | CA361620638 | POU4F3 | c.409C>A (p.His137Asn) | |
| 5 | g.146339836C= | CA1589086641 | POU4F3 | c.409C= (p.His137=) | |
| 5 | g.146339836C>G | CA361620639 | POU4F3 | c.409C>G (p.His137Asp) | dbSNP gnomAD v4 |
| 5 | g.146339836C>T | CA361620640 | POU4F3 | c.409C>T (p.His137Tyr) | |
| 5 | g.146339837A= | CA1589086642 | POU4F3 | c.410A= (p.His137=) | |
| 5 | g.146339837A>C | CA361620641 | POU4F3 | c.410A>C (p.His137Pro) | |
| 5 | g.146339837A>G | CA361620642 | POU4F3 | c.410A>G (p.His137Arg) | gnomAD v4 |
| 5 | g.146339837A>T | CA361620643 | POU4F3 | c.410A>T (p.His137Leu) | dbSNP gnomAD v4 |
| 5 | g.146339838C>A | CA361620645 | POU4F3 | c.411C>A (p.His137Gln) | |
| 5 | g.146339838C= | CA1589086643 | POU4F3 | c.411C= (p.His137=) | |
| 5 | g.146339838C>G | CA361620644 | POU4F3 | c.411C>G (p.His137Gln) | |
| 5 | g.146339838C>T | CA3491124 | POU4F3 | c.411C>T (p.His137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339839T>A | CA361620646 | POU4F3 | c.412T>A (p.Ser138Thr) | |
| 5 | g.146339839T>C | CA361620647 | POU4F3 | c.412T>C (p.Ser138Pro) | |
| 5 | g.146339839T>G | CA361620648 | POU4F3 | c.412T>G (p.Ser138Ala) | |
| 5 | g.146339840C>A | CA361620649 | POU4F3 | c.413C>A (p.Ser138Ter) | gnomAD v4 |
| 5 | g.146339840C= | CA1589086644 | POU4F3 | c.413C= (p.Ser138=) | |
| 5 | g.146339840C>G | CA361620650 | POU4F3 | c.413C>G (p.Ser138Trp) | dbSNP gnomAD v4 |
| 5 | g.146339840C>T | CA3491125 | POU4F3 | c.413C>T (p.Ser138Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339841G>A | CA3491126 | POU4F3 | c.414G>A (p.Ser138=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146339841G>C | CA447097656 | POU4F3 | c.414G>C (p.Ser138=) | gnomAD v4 |
| 5 | g.146339841G= | CA1589086645 | POU4F3 | c.414G= (p.Ser138=) | |
| 5 | g.146339841G>T | CA447097655 | POU4F3 | c.414G>T (p.Ser138=) | |
| 5 | g.146339841_146339845del | CA2739275168 | POU4F3 | c.414_418del (p.Val139AlafsTer?) | ClinVar |