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.146340029del | CA658820750 | POU4F3 | c.602del (p.Leu201ArgfsTer3) | |
| 5 | g.146340029T>A | CA361621401 | POU4F3 | c.602T>A (p.Leu201Gln) | |
| 5 | g.146340029T>C | CA361621402 | POU4F3 | c.602T>C (p.Leu201Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340029T>G | CA361621405 | POU4F3 | c.602T>G (p.Leu201Arg) | |
| 5 | g.146340029T= | CA1589086741 | POU4F3 | c.602T= (p.Leu201=) | |
| 5 | g.146340030G>A | CA447097795 | POU4F3 | c.603G>A (p.Leu201=) | dbSNP |
| 5 | g.146340030G>C | CA447097796 | POU4F3 | c.603G>C (p.Leu201=) | dbSNP gnomAD v4 |
| 5 | g.146340030G= | CA1589086742 | POU4F3 | c.603G= (p.Leu201=) | |
| 5 | g.146340030G>T | CA447097793 | POU4F3 | c.603G>T (p.Leu201=) | |
| 5 | g.146340033_146340034del | CA658820751 | POU4F3 | c.606_607del (p.Val203AspfsTer11) | |
| 5 | g.146340031G>A | CA361621461 | POU4F3 | c.604G>A (p.Gly202Arg) | ClinVar dbSNP |
| 5 | g.146340031G>C | CA361621453 | POU4F3 | c.604G>C (p.Gly202Arg) | |
| 5 | g.146340031G= | CA1589086743 | POU4F3 | c.604G= (p.Gly202=) | |
| 5 | g.146340031G>T | CA361621408 | POU4F3 | c.604G>T (p.Gly202Trp) | |
| 5 | g.146340032G>A | CA361621463 | POU4F3 | c.605G>A (p.Gly202Glu) | gnomAD v4 |
| 5 | g.146340032G>C | CA128860981 | POU4F3 | c.605G>C (p.Gly202Ala) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340032G= | CA1589086744 | POU4F3 | c.605G= (p.Gly202=) | |
| 5 | g.146340032G>T | CA361621466 | POU4F3 | c.605G>T (p.Gly202Val) | |
| 5 | g.146340033G>A | CA447097802 | POU4F3 | c.606G>A (p.Gly202=) | |
| 5 | g.146340033G>C | CA447097800 | POU4F3 | c.606G>C (p.Gly202=) | gnomAD v4 |
| 5 | g.146340033G>T | CA447097801 | POU4F3 | c.606G>T (p.Gly202=) | gnomAD v4 |
| 5 | g.146340034G>A | CA361621468 | POU4F3 | c.607G>A (p.Val203Met) | dbSNP gnomAD v4 |
| 5 | g.146340034G>C | CA361621469 | POU4F3 | c.607G>C (p.Val203Leu) | |
| 5 | g.146340034G= | CA1589086745 | POU4F3 | c.607G= (p.Val203=) | |
| 5 | g.146340034G>T | CA361621472 | POU4F3 | c.607G>T (p.Val203Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340035T>A | CA361621474 | POU4F3 | c.608T>A (p.Val203Glu) | |
| 5 | g.146340035T>C | CA361621476 | POU4F3 | c.608T>C (p.Val203Ala) | |
| 5 | g.146340035T>G | CA361621479 | POU4F3 | c.608T>G (p.Val203Gly) | dbSNP |
| 5 | g.146340035T= | CA1589086746 | POU4F3 | c.608T= (p.Val203=) | |
| 5 | g.146340036G>A | CA3491170 | POU4F3 | c.609G>A (p.Val203=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340036G>C | CA447097809 | POU4F3 | c.609G>C (p.Val203=) | |
| 5 | g.146340036G= | CA1589086747 | POU4F3 | c.609G= (p.Val203=) | |
| 5 | g.146340036G>T | CA447097805 | POU4F3 | c.609G>T (p.Val203=) | gnomAD v4 |
| 5 | g.146340037del | CA563234445 | POU4F3 | c.610del (p.Thr204ProfsTer20) | gnomAD v2 gnomAD v4 |
| 5 | g.146340037A>C | CA361621481 | POU4F3 | c.610A>C (p.Thr204Pro) | |
| 5 | g.146340037A>G | CA361621484 | POU4F3 | c.610A>G (p.Thr204Ala) | |
| 5 | g.146340037A>T | CA361621487 | POU4F3 | c.610A>T (p.Thr204Ser) | |
| 5 | g.146340038C>A | CA361621494 | POU4F3 | c.611C>A (p.Thr204Asn) | COSMIC |
| 5 | g.146340038C>G | CA361621489 | POU4F3 | c.611C>G (p.Thr204Ser) | |
| 5 | g.146340038C>T | CA361621491 | POU4F3 | c.611C>T (p.Thr204Ile) | |
| 5 | g.146340039C>A | CA447097816 | POU4F3 | c.612C>A (p.Thr204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340039C= | CA1589086748 | POU4F3 | c.612C= (p.Thr204=) | |
| 5 | g.146340039C>G | CA447097814 | POU4F3 | c.612C>G (p.Thr204=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340039C>T | CA447097812 | POU4F3 | c.612C>T (p.Thr204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340040C>A | CA361621496 | POU4F3 | c.613C>A (p.Gln205Lys) | COSMIC |
| 5 | g.146340040C>G | CA361621497 | POU4F3 | c.613C>G (p.Gln205Glu) | |
| 5 | g.146340040C>T | CA361621498 | POU4F3 | c.613C>T (p.Gln205Ter) | |
| 5 | g.146340041A>C | CA361621503 | POU4F3 | c.614A>C (p.Gln205Pro) | |
| 5 | g.146340041A>G | CA361621507 | POU4F3 | c.614A>G (p.Gln205Arg) | gnomAD v4 |
| 5 | g.146340041A>T | CA361621509 | POU4F3 | c.614A>T (p.Gln205Leu) | |
| 5 | g.146340042G>A | CA447097821 | POU4F3 | c.615G>A (p.Gln205=) | |
| 5 | g.146340042G>C | CA361621512 | POU4F3 | c.615G>C (p.Gln205His) | |
| 5 | g.146340042G>T | CA361621514 | POU4F3 | c.615G>T (p.Gln205His) | COSMIC |
| 5 | g.146340043G>A | CA361621517 | POU4F3 | c.616G>A (p.Ala206Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340043G>C | CA361621519 | POU4F3 | c.616G>C (p.Ala206Pro) | |
| 5 | g.146340043G= | CA1589086749 | POU4F3 | c.616G= (p.Ala206=) | |
| 5 | g.146340043G>T | CA361621521 | POU4F3 | c.616G>T (p.Ala206Ser) | |
| 5 | g.146340044C>A | CA361621529 | POU4F3 | c.617C>A (p.Ala206Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340044C= | CA1589086750 | POU4F3 | c.617C= (p.Ala206=) | |
| 5 | g.146340044C>G | CA361621527 | POU4F3 | c.617C>G (p.Ala206Gly) | gnomAD v4 |
| 5 | g.146340044C>T | CA361621525 | POU4F3 | c.617C>T (p.Ala206Val) | |
| 5 | g.146340045G>A | CA447097822 | POU4F3 | c.618G>A (p.Ala206=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340045G>C | CA447097823 | POU4F3 | c.618G>C (p.Ala206=) | |
| 5 | g.146340045G= | CA1589086751 | POU4F3 | c.618G= (p.Ala206=) | |
| 5 | g.146340045G>T | CA447097825 | POU4F3 | c.618G>T (p.Ala206=) | gnomAD v4 |
| 5 | g.146340046G>A | CA361621531 | POU4F3 | c.619G>A (p.Asp207Asn) | |
| 5 | g.146340046G>C | CA361621536 | POU4F3 | c.619G>C (p.Asp207His) | |
| 5 | g.146340046G>T | CA361621534 | POU4F3 | c.619G>T (p.Asp207Tyr) | |
| 5 | g.146340047A= | CA1589086752 | POU4F3 | c.620A= (p.Asp207=) | |
| 5 | g.146340047A>C | CA361621539 | POU4F3 | c.620A>C (p.Asp207Ala) | |
| 5 | g.146340047A>G | CA3491171 | POU4F3 | c.620A>G (p.Asp207Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340047A>T | CA361621542 | POU4F3 | c.620A>T (p.Asp207Val) | |
| 5 | g.146340048C>A | CA361621547 | POU4F3 | c.621C>A (p.Asp207Glu) | |
| 5 | g.146340048C>G | CA361621548 | POU4F3 | c.621C>G (p.Asp207Glu) | gnomAD v4 |
| 5 | g.146340048C>T | CA447097831 | POU4F3 | c.621C>T (p.Asp207=) | |
| 5 | g.146340049G>A | CA361621551 | POU4F3 | c.622G>A (p.Val208Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340049G>C | CA361621554 | POU4F3 | c.622G>C (p.Val208Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340049G= | CA1589086753 | POU4F3 | c.622G= (p.Val208=) | |
| 5 | g.146340049G>T | CA361621557 | POU4F3 | c.622G>T (p.Val208Leu) | gnomAD v4 |
| 5 | g.146340050T>A | CA361621561 | POU4F3 | c.623T>A (p.Val208Glu) | |
| 5 | g.146340050T>C | CA3491172 | POU4F3 | c.623T>C (p.Val208Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340050T>G | CA361621563 | POU4F3 | c.623T>G (p.Val208Gly) | |
| 5 | g.146340050T= | CA1589086754 | POU4F3 | c.623T= (p.Val208=) | |
| 5 | g.146340051G>A | CA3491173 | POU4F3 | c.624G>A (p.Val208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340051G>C | CA447097835 | POU4F3 | c.624G>C (p.Val208=) | |
| 5 | g.146340051G= | CA1589086755 | POU4F3 | c.624G= (p.Val208=) | |
| 5 | g.146340051G>T | CA447097836 | POU4F3 | c.624G>T (p.Val208=) | |
| 5 | g.146340052G>A | CA361621570 | POU4F3 | c.625G>A (p.Gly209Ser) | |
| 5 | g.146340052G>C | CA361621567 | POU4F3 | c.625G>C (p.Gly209Arg) | |
| 5 | g.146340052G>T | CA361621569 | POU4F3 | c.625G>T (p.Gly209Cys) | |
| 5 | g.146340053G>A | CA361621573 | POU4F3 | c.626G>A (p.Gly209Asp) | COSMIC |
| 5 | g.146340053G>C | CA361621575 | POU4F3 | c.626G>C (p.Gly209Ala) | |
| 5 | g.146340053G>T | CA361621577 | POU4F3 | c.626G>T (p.Gly209Val) | gnomAD v4 |
| 5 | g.146340054C>A | CA3491174 | POU4F3 | c.627C>A (p.Gly209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340054C= | CA1589086756 | POU4F3 | c.627C= (p.Gly209=) | |
| 5 | g.146340054C>G | CA447097838 | POU4F3 | c.627C>G (p.Gly209=) | |
| 5 | g.146340054C>T | CA447097839 | POU4F3 | c.627C>T (p.Gly209=) | dbSNP gnomAD v4 |
| 5 | g.146340055G>A | CA361621582 | POU4F3 | c.628G>A (p.Ala210Thr) | |
| 5 | g.146340055G>C | CA361621584 | POU4F3 | c.628G>C (p.Ala210Pro) | |
| 5 | g.146340055G>T | CA361621587 | POU4F3 | c.628G>T (p.Ala210Ser) | |
| 5 | g.146340056C>A | CA361621589 | POU4F3 | c.629C>A (p.Ala210Glu) | |
| 5 | g.146340056C= | CA1589086757 | POU4F3 | c.629C= (p.Ala210=) | |
| 5 | g.146340056C>G | CA361621592 | POU4F3 | c.629C>G (p.Ala210Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340056C>T | CA361621594 | POU4F3 | c.629C>T (p.Ala210Val) | dbSNP gnomAD v4 |
| 5 | g.146340057G>A | CA3491175 | POU4F3 | c.630G>A (p.Ala210=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340057G>C | CA447097842 | POU4F3 | c.630G>C (p.Ala210=) | |
| 5 | g.146340057G= | CA1589086758 | POU4F3 | c.630G= (p.Ala210=) | |
| 5 | g.146340057G>T | CA447097841 | POU4F3 | c.630G>T (p.Ala210=) | |
| 5 | g.146340058G>A | CA361621601 | POU4F3 | c.631G>A (p.Ala211Thr) | |
| 5 | g.146340058G>C | CA361621599 | POU4F3 | c.631G>C (p.Ala211Pro) | |
| 5 | g.146340058G= | CA1589086759 | POU4F3 | c.631G= (p.Ala211=) | |
| 5 | g.146340058G>T | CA3491176 | POU4F3 | c.631G>T (p.Ala211Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340059C>A | CA3491177 | POU4F3 | c.632C>A (p.Ala211Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340059C= | CA1589086760 | POU4F3 | c.632C= (p.Ala211=) | |
| 5 | g.146340059C>G | CA361621605 | POU4F3 | c.632C>G (p.Ala211Gly) | |
| 5 | g.146340059C>T | CA361621608 | POU4F3 | c.632C>T (p.Ala211Val) | gnomAD v4 |
| 5 | g.146340060T>A | CA447097843 | POU4F3 | c.633T>A (p.Ala211=) | |
| 5 | g.146340060T>C | CA447097844 | POU4F3 | c.633T>C (p.Ala211=) | |
| 5 | g.146340060T>G | CA447097845 | POU4F3 | c.633T>G (p.Ala211=) | |
| 5 | g.146340061C>A | CA361621610 | POU4F3 | c.634C>A (p.Leu212Met) | |
| 5 | g.146340061C= | CA1589086761 | POU4F3 | c.634C= (p.Leu212=) | |
| 5 | g.146340061C>G | CA361621612 | POU4F3 | c.634C>G (p.Leu212Val) | |
| 5 | g.146340061C>T | CA447097846 | POU4F3 | c.634C>T (p.Leu212=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340062T>A | CA361621620 | POU4F3 | c.635T>A (p.Leu212Gln) | |
| 5 | g.146340062T>C | CA361621618 | POU4F3 | c.635T>C (p.Leu212Pro) | ClinVar dbSNP |
| 5 | g.146340062T>G | CA361621615 | POU4F3 | c.635T>G (p.Leu212Arg) | |
| 5 | g.146340062T= | CA1589086762 | POU4F3 | c.635T= (p.Leu212=) | |
| 5 | g.146340063G>A | CA447097850 | POU4F3 | c.636G>A (p.Leu212=) | |
| 5 | g.146340063G>C | CA447097849 | POU4F3 | c.636G>C (p.Leu212=) | |
| 5 | g.146340063G>T | CA447097848 | POU4F3 | c.636G>T (p.Leu212=) | |
| 5 | g.146340064G>A | CA361621623 | POU4F3 | c.637G>A (p.Ala213Thr) | |
| 5 | g.146340064G>C | CA361621625 | POU4F3 | c.637G>C (p.Ala213Pro) | |
| 5 | g.146340064G>T | CA361621627 | POU4F3 | c.637G>T (p.Ala213Ser) | |
| 5 | g.146340065C>A | CA361621631 | POU4F3 | c.638C>A (p.Ala213Asp) | |
| 5 | g.146340065C>G | CA361621633 | POU4F3 | c.638C>G (p.Ala213Gly) | |
| 5 | g.146340065C>T | CA361621635 | POU4F3 | c.638C>T (p.Ala213Val) | |
| 5 | g.146340066T>A | CA447097854 | POU4F3 | c.639T>A (p.Ala213=) | |
| 5 | g.146340066T>C | CA447097855 | POU4F3 | c.639T>C (p.Ala213=) | |
| 5 | g.146340066T>G | CA447097856 | POU4F3 | c.639T>G (p.Ala213=) | |
| 5 | g.146340067A>C | CA361621639 | POU4F3 | c.640A>C (p.Asn214His) | |
| 5 | g.146340067A>G | CA361621642 | POU4F3 | c.640A>G (p.Asn214Asp) | |
| 5 | g.146340067A>T | CA361621640 | POU4F3 | c.640A>T (p.Asn214Tyr) | |
| 5 | g.146340068A= | CA1589086763 | POU4F3 | c.641A= (p.Asn214=) | |
| 5 | g.146340068A>C | CA361621644 | POU4F3 | c.641A>C (p.Asn214Thr) | |
| 5 | g.146340068A>G | CA361621645 | POU4F3 | c.641A>G (p.Asn214Ser) | dbSNP gnomAD v4 |
| 5 | g.146340068A>T | CA361621647 | POU4F3 | c.641A>T (p.Asn214Ile) | gnomAD v4 |
| 5 | g.146340069T>A | CA361621649 | POU4F3 | c.642T>A (p.Asn214Lys) | |
| 5 | g.146340069T>C | CA447097859 | POU4F3 | c.642T>C (p.Asn214=) | gnomAD v4 |
| 5 | g.146340069T>G | CA361621650 | POU4F3 | c.642T>G (p.Asn214Lys) | |
| 5 | g.146340070C>A | CA361621652 | POU4F3 | c.643C>A (p.Leu215Ile) | |
| 5 | g.146340070C>G | CA361621654 | POU4F3 | c.643C>G (p.Leu215Val) | |
| 5 | g.146340070C>T | CA361621657 | POU4F3 | c.643C>T (p.Leu215Phe) | COSMIC |
| 5 | g.146340071T>A | CA361621659 | POU4F3 | c.644T>A (p.Leu215His) | |
| 5 | g.146340071T>C | CA361621662 | POU4F3 | c.644T>C (p.Leu215Pro) | |
| 5 | g.146340071T>G | CA361621664 | POU4F3 | c.644T>G (p.Leu215Arg) | |
| 5 | g.146340072C>A | CA447097862 | POU4F3 | c.645C>A (p.Leu215=) | |
| 5 | g.146340072C= | CA1589086764 | POU4F3 | c.645C= (p.Leu215=) | |
| 5 | g.146340072C>G | CA447097863 | POU4F3 | c.645C>G (p.Leu215=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340072C>T | CA447097865 | POU4F3 | c.645C>T (p.Leu215=) | |
| 5 | g.146340073A= | CA1589086765 | POU4F3 | c.646A= (p.Lys216=) | |
| 5 | g.146340073A>C | CA361621669 | POU4F3 | c.646A>C (p.Lys216Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340073A>G | CA361621670 | POU4F3 | c.646A>G (p.Lys216Glu) | |
| 5 | g.146340073A>T | CA361621667 | POU4F3 | c.646A>T (p.Lys216Ter) | |
| 5 | g.146340074A= | CA1589086766 | POU4F3 | c.647A= (p.Lys216=) | |
| 5 | g.146340074A>C | CA361621674 | POU4F3 | c.647A>C (p.Lys216Thr) | |
| 5 | g.146340074A>G | CA361621682 | POU4F3 | c.647A>G (p.Lys216Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340074A>T | CA361621679 | POU4F3 | c.647A>T (p.Lys216Met) | |
| 5 | g.146340075G>A | CA447097867 | POU4F3 | c.648G>A (p.Lys216=) | |
| 5 | g.146340075G>C | CA361621685 | POU4F3 | c.648G>C (p.Lys216Asn) | |
| 5 | g.146340075G= | CA1589086767 | POU4F3 | c.648G= (p.Lys216=) | |
| 5 | g.146340075G>T | CA361621686 | POU4F3 | c.648G>T (p.Lys216Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340076A>C | CA361621690 | POU4F3 | c.649A>C (p.Ile217Leu) | |
| 5 | g.146340076A>G | CA361621700 | POU4F3 | c.649A>G (p.Ile217Val) | |
| 5 | g.146340076A>T | CA361621693 | POU4F3 | c.649A>T (p.Ile217Phe) | |
| 5 | g.146340077T>A | CA361621703 | POU4F3 | c.650T>A (p.Ile217Asn) | ClinVar |
| 5 | g.146340077T>C | CA361621706 | POU4F3 | c.650T>C (p.Ile217Thr) | |
| 5 | g.146340077T>G | CA361621704 | POU4F3 | c.650T>G (p.Ile217Ser) | |
| 5 | g.146340078C>A | CA447097869 | POU4F3 | c.651C>A (p.Ile217=) | |
| 5 | g.146340078C>G | CA361621709 | POU4F3 | c.651C>G (p.Ile217Met) | |
| 5 | g.146340078C>T | CA447097870 | POU4F3 | c.651C>T (p.Ile217=) | dbSNP gnomAD v4 |
| 5 | g.146340079C>A | CA361621711 | POU4F3 | c.652C>A (p.Pro218Thr) | |
| 5 | g.146340079C= | CA1589086768 | POU4F3 | c.652C= (p.Pro218=) | |
| 5 | g.146340079C>G | CA361621713 | POU4F3 | c.652C>G (p.Pro218Ala) | |
| 5 | g.146340079C>T | CA361621714 | POU4F3 | c.652C>T (p.Pro218Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340080C>A | CA361621715 | POU4F3 | c.653C>A (p.Pro218His) | |
| 5 | g.146340080C>G | CA361621716 | POU4F3 | c.653C>G (p.Pro218Arg) | ClinVar |
| 5 | g.146340080C>T | CA361621717 | POU4F3 | c.653C>T (p.Pro218Leu) | |
| 5 | g.146340081C>A | CA447097874 | POU4F3 | c.654C>A (p.Pro218=) | |
| 5 | g.146340081C= | CA1589086769 | POU4F3 | c.654C= (p.Pro218=) | |
| 5 | g.146340081C>G | CA447097875 | POU4F3 | c.654C>G (p.Pro218=) | |
| 5 | g.146340081C>T | CA3491178 | POU4F3 | c.654C>T (p.Pro218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340082G>A | CA361621721 | POU4F3 | c.655G>A (p.Gly219Ser) | gnomAD v4 |
| 5 | g.146340082G>C | CA361621723 | POU4F3 | c.655G>C (p.Gly219Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340082G= | CA1589086770 | POU4F3 | c.655G= (p.Gly219=) | |
| 5 | g.146340082G>T | CA361621724 | POU4F3 | c.655G>T (p.Gly219Cys) | dbSNP |
| 5 | g.146340083G>A | CA361621730 | POU4F3 | c.656G>A (p.Gly219Asp) | |
| 5 | g.146340083G>C | CA361621728 | POU4F3 | c.656G>C (p.Gly219Ala) | |
| 5 | g.146340083G>T | CA361621726 | POU4F3 | c.656G>T (p.Gly219Val) | |
| 5 | g.146340084C>A | CA447097876 | POU4F3 | c.657C>A (p.Gly219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340084C= | CA1589086771 | POU4F3 | c.657C= (p.Gly219=) | |
| 5 | g.146340084C>G | CA447097877 | POU4F3 | c.657C>G (p.Gly219=) | dbSNP gnomAD v4 |
| 5 | g.146340084C>T | CA447097878 | POU4F3 | c.657C>T (p.Gly219=) | gnomAD v4 |
| 5 | g.146340085G>A | CA3491179 | POU4F3 | c.658G>A (p.Val220Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340085G>C | CA361621733 | POU4F3 | c.658G>C (p.Val220Leu) | |
| 5 | g.146340085G= | CA1589086772 | POU4F3 | c.658G= (p.Val220=) | |
| 5 | g.146340085G>T | CA361621736 | POU4F3 | c.658G>T (p.Val220Leu) | |
| 5 | g.146340086T>A | CA361621739 | POU4F3 | c.659T>A (p.Val220Glu) | |
| 5 | g.146340086T>C | CA361621741 | POU4F3 | c.659T>C (p.Val220Ala) | |
| 5 | g.146340086T>G | CA361621743 | POU4F3 | c.659T>G (p.Val220Gly) | |
| 5 | g.146340087G>A | CA447097883 | POU4F3 | c.660G>A (p.Val220=) | gnomAD v4 COSMIC |
| 5 | g.146340087G>C | CA447097884 | POU4F3 | c.660G>C (p.Val220=) | |
| 5 | g.146340087G>T | CA447097885 | POU4F3 | c.660G>T (p.Val220=) | |
| 5 | g.146340088G>A | CA3491180 | POU4F3 | c.661G>A (p.Gly221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340088G>C | CA361621745 | POU4F3 | c.661G>C (p.Gly221Arg) | |
| 5 | g.146340088G= | CA1589086774 | POU4F3 | c.661G= (p.Gly221=) | |
| 5 | g.146340088G>T | CA361621748 | POU4F3 | c.661G>T (p.Gly221Cys) | |
| 5 | g.146340088_146340102delinsGGCTCGCTGAGCCAA | CA1589086773 | POU4F3 | c.661_675delinsGGCTCGCTGAGCCAA (p.Gly221=) | |
| 5 | g.146340089G>A | CA361621751 | POU4F3 | c.662G>A (p.Gly221Asp) | dbSNP gnomAD v4 |
| 5 | g.146340089G>C | CA361621754 | POU4F3 | c.662G>C (p.Gly221Ala) | |
| 5 | g.146340089G= | CA1589086775 | POU4F3 | c.662G= (p.Gly221=) | |
| 5 | g.146340089G>T | CA361621756 | POU4F3 | c.662G>T (p.Gly221Val) | |
| 5 | g.146340089_146340102del | CA16616765 | POU4F3 | c.662_675del (p.Gly221GlufsTer?) | ClinVar dbSNP |
| 5 | g.146340090C>A | CA177659 | POU4F3 | c.663C>A (p.Gly221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340090C= | CA1589086776 | POU4F3 | c.663C= (p.Gly221=) | |
| 5 | g.146340090C>G | CA447097889 | POU4F3 | c.663C>G (p.Gly221=) | |
| 5 | g.146340090C>T | CA447097887 | POU4F3 | c.663C>T (p.Gly221=) | dbSNP gnomAD v4 |
| 5 | g.146340091T>A | CA361621763 | POU4F3 | c.664T>A (p.Ser222Thr) | |
| 5 | g.146340091T>C | CA361621761 | POU4F3 | c.664T>C (p.Ser222Pro) | |
| 5 | g.146340091T>G | CA361621762 | POU4F3 | c.664T>G (p.Ser222Ala) | |
| 5 | g.146340092C>A | CA361621766 | POU4F3 | c.665C>A (p.Ser222Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340092C= | CA1589086777 | POU4F3 | c.665C= (p.Ser222=) | |
| 5 | g.146340092C>G | CA361621768 | POU4F3 | c.665C>G (p.Ser222Trp) | |
| 5 | g.146340092C>T | CA361621770 | POU4F3 | c.665C>T (p.Ser222Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340093G>A | CA447097892 | POU4F3 | c.666G>A (p.Ser222=) | dbSNP gnomAD v4 |
| 5 | g.146340093G>C | CA447097891 | POU4F3 | c.666G>C (p.Ser222=) | dbSNP |
| 5 | g.146340093G= | CA1589086778 | POU4F3 | c.666G= (p.Ser222=) | |
| 5 | g.146340093G>T | CA447097890 | POU4F3 | c.666G>T (p.Ser222=) | |
| 5 | g.146340094C>A | CA361621773 | POU4F3 | c.667C>A (p.Leu223Met) | |
| 5 | g.146340094C>G | CA361621775 | POU4F3 | c.667C>G (p.Leu223Val) | |
| 5 | g.146340094C>T | CA447097893 | POU4F3 | c.667C>T (p.Leu223=) | |
| 5 | g.146340095T>A | CA361621779 | POU4F3 | c.668T>A (p.Leu223Gln) | |
| 5 | g.146340095T>C | CA254102 | POU4F3 | c.668T>C (p.Leu223Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340095T>G | CA361621782 | POU4F3 | c.668T>G (p.Leu223Arg) | |
| 5 | g.146340095T= | CA1589086779 | POU4F3 | c.668T= (p.Leu223=) | |
| 5 | g.146340096G>A | CA3491181 | POU4F3 | c.669G>A (p.Leu223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340096G>C | CA447097898 | POU4F3 | c.669G>C (p.Leu223=) | |
| 5 | g.146340096G= | CA1589086780 | POU4F3 | c.669G= (p.Leu223=) | |
| 5 | g.146340096G>T | CA447097897 | POU4F3 | c.669G>T (p.Leu223=) | |
| 5 | g.146340097A>C | CA361621787 | POU4F3 | c.670A>C (p.Ser224Arg) | |
| 5 | g.146340097A>G | CA361621791 | POU4F3 | c.670A>G (p.Ser224Gly) | |
| 5 | g.146340097A>T | CA361621793 | POU4F3 | c.670A>T (p.Ser224Cys) | |
| 5 | g.146340098G>A | CA361621795 | POU4F3 | c.671G>A (p.Ser224Asn) | |
| 5 | g.146340098G>C | CA361621799 | POU4F3 | c.671G>C (p.Ser224Thr) | |
| 5 | g.146340098G>T | CA361621797 | POU4F3 | c.671G>T (p.Ser224Ile) | |
| 5 | g.146340099C>A | CA361621801 | POU4F3 | c.672C>A (p.Ser224Arg) | |
| 5 | g.146340099C>G | CA361621803 | POU4F3 | c.672C>G (p.Ser224Arg) | |
| 5 | g.146340099C>T | CA447097902 | POU4F3 | c.672C>T (p.Ser224=) | |
| 5 | g.146340100C>A | CA361621806 | POU4F3 | c.673C>A (p.Gln225Lys) | |
| 5 | g.146340100C>G | CA361621807 | POU4F3 | c.673C>G (p.Gln225Glu) | |
| 5 | g.146340100C>T | CA361621811 | POU4F3 | c.673C>T (p.Gln225Ter) | |
| 5 | g.146340101A>C | CA361621813 | POU4F3 | c.674A>C (p.Gln225Pro) | |
| 5 | g.146340101A>G | CA361621814 | POU4F3 | c.674A>G (p.Gln225Arg) | ClinVar |
| 5 | g.146340101A>T | CA361621817 | POU4F3 | c.674A>T (p.Gln225Leu) | |
| 5 | g.146340102A>C | CA361621827 | POU4F3 | c.675A>C (p.Gln225His) | |
| 5 | g.146340102A>G | CA447097903 | POU4F3 | c.675A>G (p.Gln225=) | |
| 5 | g.146340102A>T | CA361621833 | POU4F3 | c.675A>T (p.Gln225His) | ClinVar |
| 5 | g.146340103A>C | CA361621837 | POU4F3 | c.676A>C (p.Ser226Arg) | |
| 5 | g.146340103A>G | CA361621836 | POU4F3 | c.676A>G (p.Ser226Gly) | ClinVar |
| 5 | g.146340103A>T | CA361621835 | POU4F3 | c.676A>T (p.Ser226Cys) | |
| 5 | g.146340104G>A | CA361621840 | POU4F3 | c.677G>A (p.Ser226Asn) | |
| 5 | g.146340104G>C | CA361621846 | POU4F3 | c.677G>C (p.Ser226Thr) | |
| 5 | g.146340104G>T | CA361621843 | POU4F3 | c.677G>T (p.Ser226Ile) | |
| 5 | g.146340105C>A | CA361621849 | POU4F3 | c.678C>A (p.Ser226Arg) | |
| 5 | g.146340105C>G | CA361621851 | POU4F3 | c.678C>G (p.Ser226Arg) | |
| 5 | g.146340105C>T | CA447097907 | POU4F3 | c.678C>T (p.Ser226=) | |
| 5 | g.146340106A= | CA1589086781 | POU4F3 | c.679A= (p.Thr227=) | |
| 5 | g.146340106A>C | CA361621853 | POU4F3 | c.679A>C (p.Thr227Pro) | dbSNP |
| 5 | g.146340106A>G | CA361621859 | POU4F3 | c.679A>G (p.Thr227Ala) | gnomAD v4 |
| 5 | g.146340106A>T | CA361621860 | POU4F3 | c.679A>T (p.Thr227Ser) | |
| 5 | g.146340107C>A | CA361621864 | POU4F3 | c.680C>A (p.Thr227Asn) | |
| 5 | g.146340107C>G | CA361621865 | POU4F3 | c.680C>G (p.Thr227Ser) | |
| 5 | g.146340107C>T | CA361621866 | POU4F3 | c.680C>T (p.Thr227Ile) | ClinVar dbSNP |
| 5 | g.146340108del | CA658820753 | POU4F3 | c.681del (p.Ile228SerfsTer14) | |
| 5 | g.146340108C>A | CA447097909 | POU4F3 | c.681C>A (p.Thr227=) | |
| 5 | g.146340108C>G | CA447097910 | POU4F3 | c.681C>G (p.Thr227=) | |
| 5 | g.146340108C>T | CA447097912 | POU4F3 | c.681C>T (p.Thr227=) | gnomAD v4 |
| 5 | g.146340109A= | CA1589086782 | POU4F3 | c.682A= (p.Ile228=) | |
| 5 | g.146340109A>C | CA361621868 | POU4F3 | c.682A>C (p.Ile228Leu) | |
| 5 | g.146340109A>G | CA361621870 | POU4F3 | c.682A>G (p.Ile228Val) | dbSNP gnomAD v4 |
| 5 | g.146340109A>T | CA361621871 | POU4F3 | c.682A>T (p.Ile228Phe) | |
| 5 | g.146340110T>A | CA361621875 | POU4F3 | c.683T>A (p.Ile228Asn) | |
| 5 | g.146340110T>C | CA361621873 | POU4F3 | c.683T>C (p.Ile228Thr) | ClinVar dbSNP |
| 5 | g.146340110T>G | CA361621874 | POU4F3 | c.683T>G (p.Ile228Ser) | |
| 5 | g.146340110T= | CA1589086783 | POU4F3 | c.683T= (p.Ile228=) | |
| 5 | g.146340111C>A | CA447097916 | POU4F3 | c.684C>A (p.Ile228=) | |
| 5 | g.146340111C= | CA1589086784 | POU4F3 | c.684C= (p.Ile228=) | |
| 5 | g.146340111C>G | CA361621878 | POU4F3 | c.684C>G (p.Ile228Met) | |
| 5 | g.146340111C>T | CA447097917 | POU4F3 | c.684C>T (p.Ile228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340112T>A | CA361621880 | POU4F3 | c.685T>A (p.Cys229Ser) | |
| 5 | g.146340112T>C | CA361621882 | POU4F3 | c.685T>C (p.Cys229Arg) | |
| 5 | g.146340112T>G | CA361621884 | POU4F3 | c.685T>G (p.Cys229Gly) | |
| 5 | g.146340113G>A | CA361621885 | POU4F3 | c.686G>A (p.Cys229Tyr) | |
| 5 | g.146340113G>C | CA361621886 | POU4F3 | c.686G>C (p.Cys229Ser) | |
| 5 | g.146340113G= | CA1589086785 | POU4F3 | c.686G= (p.Cys229=) | |
| 5 | g.146340113G>T | CA361621889 | POU4F3 | c.686G>T (p.Cys229Phe) | ClinVar dbSNP |
| 5 | g.146340114C>A | CA361621893 | POU4F3 | c.687C>A (p.Cys229Ter) | |
| 5 | g.146340114C>G | CA361621895 | POU4F3 | c.687C>G (p.Cys229Trp) | |
| 5 | g.146340114C>T | CA447097918 | POU4F3 | c.687C>T (p.Cys229=) | |
| 5 | g.146340115A>C | CA447097920 | POU4F3 | c.688A>C (p.Arg230=) | |
| 5 | g.146340115A>G | CA361621897 | POU4F3 | c.688A>G (p.Arg230Gly) | |
| 5 | g.146340115A>T | CA361621898 | POU4F3 | c.688A>T (p.Arg230Trp) | |
| 5 | g.146340116G>A | CA128861092 | POU4F3 | c.689G>A (p.Arg230Lys) | dbSNP gnomAD v4 |
| 5 | g.146340116G>C | CA361621905 | POU4F3 | c.689G>C (p.Arg230Thr) | ClinVar dbSNP |
| 5 | g.146340116G= | CA1589086786 | POU4F3 | c.689G= (p.Arg230=) | |
| 5 | g.146340116G>T | CA361621901 | POU4F3 | c.689G>T (p.Arg230Met) | |
| 5 | g.146340117G>A | CA447097922 | POU4F3 | c.690G>A (p.Arg230=) | |
| 5 | g.146340117G>C | CA361621907 | POU4F3 | c.690G>C (p.Arg230Ser) | |
| 5 | g.146340117G= | CA1589086787 | POU4F3 | c.690G= (p.Arg230=) | |
| 5 | g.146340117G>T | CA3491182 | POU4F3 | c.690G>T (p.Arg230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340118T>A | CA361621913 | POU4F3 | c.691T>A (p.Phe231Ile) | |
| 5 | g.146340118T>C | CA361621916 | POU4F3 | c.691T>C (p.Phe231Leu) | |
| 5 | g.146340118T>G | CA361621917 | POU4F3 | c.691T>G (p.Phe231Val) | |
| 5 | g.146340119T>A | CA361621919 | POU4F3 | c.692T>A (p.Phe231Tyr) | |
| 5 | g.146340119T>C | CA361621920 | POU4F3 | c.692T>C (p.Phe231Ser) | gnomAD v4 |
| 5 | g.146340119T>G | CA361621922 | POU4F3 | c.692T>G (p.Phe231Cys) | |
| 5 | g.146340120C>A | CA361621924 | POU4F3 | c.693C>A (p.Phe231Leu) | |
| 5 | g.146340120C>G | CA361621926 | POU4F3 | c.693C>G (p.Phe231Leu) | |
| 5 | g.146340120C>T | CA447097924 | POU4F3 | c.693C>T (p.Phe231=) | gnomAD v4 COSMIC |
| 5 | g.146340121G>A | CA361621929 | POU4F3 | c.694G>A (p.Glu232Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340121G>C | CA361621930 | POU4F3 | c.694G>C (p.Glu232Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340121G>T | CA361621931 | POU4F3 | c.694G>T (p.Glu232Ter) | ClinVar dbSNP |
| 5 | g.146340122A>C | CA361621935 | POU4F3 | c.695A>C (p.Glu232Ala) | |
| 5 | g.146340122A>G | CA361621934 | POU4F3 | c.695A>G (p.Glu232Gly) | |
| 5 | g.146340122A>T | CA361621933 | POU4F3 | c.695A>T (p.Glu232Val) | |
| 5 | g.146340123G>A | CA447097929 | POU4F3 | c.696G>A (p.Glu232=) | |
| 5 | g.146340123G>C | CA361621938 | POU4F3 | c.696G>C (p.Glu232Asp) | |
| 5 | g.146340123G= | CA1589086788 | POU4F3 | c.696G= (p.Glu232=) | |
| 5 | g.146340123G>T | CA361621940 | POU4F3 | c.696G>T (p.Glu232Asp) | ClinVar dbSNP |
| 5 | g.146340124T>A | CA361621944 | POU4F3 | c.697T>A (p.Ser233Thr) | |
| 5 | g.146340124T>C | CA361621947 | POU4F3 | c.697T>C (p.Ser233Pro) | dbSNP |
| 5 | g.146340124T>G | CA361621951 | POU4F3 | c.697T>G (p.Ser233Ala) | |
| 5 | g.146340124T= | CA1589086789 | POU4F3 | c.697T= (p.Ser233=) | |
| 5 | g.146340125C>A | CA361621953 | POU4F3 | c.698C>A (p.Ser233Tyr) | |
| 5 | g.146340125C>G | CA361621955 | POU4F3 | c.698C>G (p.Ser233Cys) | |
| 5 | g.146340125C>T | CA361621957 | POU4F3 | c.698C>T (p.Ser233Phe) | |
| 5 | g.146340126T>A | CA447097933 | POU4F3 | c.699T>A (p.Ser233=) | |
| 5 | g.146340126T>C | CA447097934 | POU4F3 | c.699T>C (p.Ser233=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340126T>G | CA447097936 | POU4F3 | c.699T>G (p.Ser233=) | |
| 5 | g.146340126T= | CA1589086790 | POU4F3 | c.699T= (p.Ser233=) | |
| 5 | g.146340127C>A | CA361621960 | POU4F3 | c.700C>A (p.Leu234Ile) | |
| 5 | g.146340127C>G | CA361621962 | POU4F3 | c.700C>G (p.Leu234Val) | |
| 5 | g.146340127C>T | CA361621964 | POU4F3 | c.700C>T (p.Leu234Phe) | |
| 5 | g.146340128T>A | CA361621967 | POU4F3 | c.701T>A (p.Leu234His) | |
| 5 | g.146340128T>C | CA361621968 | POU4F3 | c.701T>C (p.Leu234Pro) | |
| 5 | g.146340128T>G | CA361621971 | POU4F3 | c.701T>G (p.Leu234Arg) | dbSNP |
| 5 | g.146340128T= | CA1589086791 | POU4F3 | c.701T= (p.Leu234=) | |
| 5 | g.146340129C>A | CA447097941 | POU4F3 | c.702C>A (p.Leu234=) | dbSNP |
| 5 | g.146340129C= | CA1589086792 | POU4F3 | c.702C= (p.Leu234=) | |
| 5 | g.146340129C>G | CA447097944 | POU4F3 | c.702C>G (p.Leu234=) | |
| 5 | g.146340129C>T | CA3491183 | POU4F3 | c.702C>T (p.Leu234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340130_146340131del | CA2580613685 | POU4F3 | c.703_704del (p.Thr235SerfsTer?) | ClinVar |