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.177992844T>A | CA448346523 | PROP1 | c.546A>T (p.Gly182=) | |
| 5 | g.177992844T>C | CA448346525 | PROP1 | c.546A>G (p.Gly182=) | |
| 5 | g.177992844T>G | CA448346524 | PROP1 | c.546A>C (p.Gly182=) | |
| 5 | g.177992845C>A | CA362378506 | PROP1 | c.545G>T (p.Gly182Val) | |
| 5 | g.177992845C>G | CA362378504 | PROP1 | c.545G>C (p.Gly182Ala) | |
| 5 | g.177992845C>T | CA362378505 | PROP1 | c.545G>A (p.Gly182Glu) | |
| 5 | g.177992846C>A | CA362378507 | PROP1 | c.544G>T (p.Gly182Ter) | |
| 5 | g.177992846C>G | CA362378508 | PROP1 | c.544G>C (p.Gly182Arg) | |
| 5 | g.177992846C>T | CA362378509 | PROP1 | c.544G>A (p.Gly182Arg) | |
| 5 | g.177992847T>A | CA448346526 | PROP1 | c.543A>T (p.Thr181=) | |
| 5 | g.177992847T>C | CA132897167 | PROP1 | c.543A>G (p.Thr181=) | dbSNP gnomAD v4 |
| 5 | g.177992847T>G | CA448346527 | PROP1 | c.543A>C (p.Thr181=) | |
| 5 | g.177992847T= | CA1603814006 | PROP1 | c.543A= (p.Thr181=) | |
| 5 | g.177992848G>A | CA132897173 | PROP1 | c.542C>T (p.Thr181Ile) | dbSNP gnomAD v4 |
| 5 | g.177992848G>C | CA362378510 | PROP1 | c.542C>G (p.Thr181Arg) | gnomAD v4 |
| 5 | g.177992848G= | CA1603814007 | PROP1 | c.542C= (p.Thr181=) | |
| 5 | g.177992848G>T | CA362378511 | PROP1 | c.542C>A (p.Thr181Lys) | gnomAD v4 |
| 5 | g.177992849T>A | CA362378512 | PROP1 | c.541A>T (p.Thr181Ser) | |
| 5 | g.177992849T>C | CA362378514 | PROP1 | c.541A>G (p.Thr181Ala) | gnomAD v4 |
| 5 | g.177992849T>G | CA362378513 | PROP1 | c.541A>C (p.Thr181Pro) | |
| 5 | g.177992850G>A | CA132897192 | PROP1 | c.540C>T (p.Ser180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992850G>C | CA448346529 | PROP1 | c.540C>G (p.Ser180=) | |
| 5 | g.177992850G= | CA1603814008 | PROP1 | c.540C= (p.Ser180=) | |
| 5 | g.177992850G>T | CA448346528 | PROP1 | c.540C>A (p.Ser180=) | |
| 5 | g.177992851G>A | CA362378515 | PROP1 | c.539C>T (p.Ser180Phe) | |
| 5 | g.177992851G>C | CA362378516 | PROP1 | c.539C>G (p.Ser180Cys) | |
| 5 | g.177992851G>T | CA362378517 | PROP1 | c.539C>A (p.Ser180Tyr) | |
| 5 | g.177992852A>C | CA362378518 | PROP1 | c.538T>G (p.Ser180Ala) | |
| 5 | g.177992852A>G | CA362378519 | PROP1 | c.538T>C (p.Ser180Pro) | |
| 5 | g.177992852A>T | CA362378520 | PROP1 | c.538T>A (p.Ser180Thr) | |
| 5 | g.177992853G>A | CA448346530 | PROP1 | c.537C>T (p.Pro179=) | |
| 5 | g.177992853G>C | CA448346531 | PROP1 | c.537C>G (p.Pro179=) | |
| 5 | g.177992853G>T | CA448346532 | PROP1 | c.537C>A (p.Pro179=) | |
| 5 | g.177992854G>A | CA362378521 | PROP1 | c.536C>T (p.Pro179Leu) | |
| 5 | g.177992854G>C | CA3587506 | PROP1 | c.536C>G (p.Pro179Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992854G= | CA1603814009 | PROP1 | c.536C= (p.Pro179=) | |
| 5 | g.177992854G>T | CA362378522 | PROP1 | c.536C>A (p.Pro179His) | |
| 5 | g.177992855G>A | CA362378523 | PROP1 | c.535C>T (p.Pro179Ser) | gnomAD v4 |
| 5 | g.177992855G>C | CA362378524 | PROP1 | c.535C>G (p.Pro179Ala) | gnomAD v4 |
| 5 | g.177992855G= | CA1603814010 | PROP1 | c.535C= (p.Pro179=) | |
| 5 | g.177992855G>T | CA3587507 | PROP1 | c.535C>A (p.Pro179Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992856C>A | CA362378525 | PROP1 | c.534G>T (p.Gln178His) | COSMIC |
| 5 | g.177992856C= | CA1603814011 | PROP1 | c.534G= (p.Gln178=) | |
| 5 | g.177992856C>G | CA362378526 | PROP1 | c.534G>C (p.Gln178His) | |
| 5 | g.177992856C>T | CA3587508 | PROP1 | c.534G>A (p.Gln178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992857T>A | CA362378527 | PROP1 | c.533A>T (p.Gln178Leu) | |
| 5 | g.177992857T>C | CA362378529 | PROP1 | c.533A>G (p.Gln178Arg) | |
| 5 | g.177992857T>G | CA362378528 | PROP1 | c.533A>C (p.Gln178Pro) | |
| 5 | g.177992858G>A | CA362378530 | PROP1 | c.532C>T (p.Gln178Ter) | |
| 5 | g.177992858G>C | CA362378532 | PROP1 | c.532C>G (p.Gln178Glu) | |
| 5 | g.177992858G>T | CA362378531 | PROP1 | c.532C>A (p.Gln178Lys) | gnomAD v4 |
| 5 | g.177992859G>A | CA448346535 | PROP1 | c.531C>T (p.Ser177=) | dbSNP gnomAD v2 |
| 5 | g.177992859G>C | CA448346533 | PROP1 | c.531C>G (p.Ser177=) | |
| 5 | g.177992859G= | CA1603814012 | PROP1 | c.531C= (p.Ser177=) | |
| 5 | g.177992859G>T | CA448346534 | PROP1 | c.531C>A (p.Ser177=) | |
| 5 | g.177992860G>A | CA3587509 | PROP1 | c.530C>T (p.Ser177Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992860G>C | CA362378534 | PROP1 | c.530C>G (p.Ser177Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992860G= | CA1603814013 | PROP1 | c.530C= (p.Ser177=) | |
| 5 | g.177992860G>T | CA362378533 | PROP1 | c.530C>A (p.Ser177Tyr) | |
| 5 | g.177992861A>C | CA362378535 | PROP1 | c.529T>G (p.Ser177Ala) | gnomAD v4 |
| 5 | g.177992861A>G | CA362378536 | PROP1 | c.529T>C (p.Ser177Pro) | |
| 5 | g.177992861A>T | CA362378537 | PROP1 | c.529T>A (p.Ser177Thr) | |
| 5 | g.177992862A>C | CA448346536 | PROP1 | c.528T>G (p.Pro176=) | |
| 5 | g.177992862A>G | CA448346537 | PROP1 | c.528T>C (p.Pro176=) | |
| 5 | g.177992862A>T | CA448346538 | PROP1 | c.528T>A (p.Pro176=) | COSMIC |
| 5 | g.177992863G>A | CA362378538 | PROP1 | c.527C>T (p.Pro176Leu) | gnomAD v4 |
| 5 | g.177992863G>C | CA362378539 | PROP1 | c.527C>G (p.Pro176Arg) | gnomAD v4 |
| 5 | g.177992863G>T | CA362378540 | PROP1 | c.527C>A (p.Pro176His) | |
| 5 | g.177992864G>A | CA362378541 | PROP1 | c.526C>T (p.Pro176Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.177992864G>C | CA362378542 | PROP1 | c.526C>G (p.Pro176Ala) | |
| 5 | g.177992864G= | CA1603814014 | PROP1 | c.526C= (p.Pro176=) | |
| 5 | g.177992864G>T | CA362378543 | PROP1 | c.526C>A (p.Pro176Thr) | |
| 5 | g.177992865G>A | CA448346539 | PROP1 | c.525C>T (p.Leu175=) | gnomAD v4 COSMIC |
| 5 | g.177992865G>C | CA448346540 | PROP1 | c.525C>G (p.Leu175=) | |
| 5 | g.177992865G>T | CA448346541 | PROP1 | c.525C>A (p.Leu175=) | |
| 5 | g.177992866A>C | CA362378544 | PROP1 | c.524T>G (p.Leu175Arg) | |
| 5 | g.177992866A>G | CA362378545 | PROP1 | c.524T>C (p.Leu175Pro) | |
| 5 | g.177992866A>T | CA362378546 | PROP1 | c.524T>A (p.Leu175His) | |
| 5 | g.177992867G>A | CA362378549 | PROP1 | c.523C>T (p.Leu175Phe) | |
| 5 | g.177992867G>C | CA362378547 | PROP1 | c.523C>G (p.Leu175Val) | |
| 5 | g.177992867G>T | CA362378548 | PROP1 | c.523C>A (p.Leu175Ile) | |
| 5 | g.177992868G>A | CA448346542 | PROP1 | c.522C>T (p.Ala174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992868G>C | CA448346543 | PROP1 | c.522C>G (p.Ala174=) | |
| 5 | g.177992868G= | CA1603814015 | PROP1 | c.522C= (p.Ala174=) | |
| 5 | g.177992868G>T | CA448346544 | PROP1 | c.522C>A (p.Ala174=) | |
| 5 | g.177992869G>A | CA362378550 | PROP1 | c.521C>T (p.Ala174Val) | gnomAD v4 |
| 5 | g.177992869G>C | CA362378551 | PROP1 | c.521C>G (p.Ala174Gly) | gnomAD v4 |
| 5 | g.177992869G>T | CA362378552 | PROP1 | c.521C>A (p.Ala174Asp) | |
| 5 | g.177992870C>A | CA362378553 | PROP1 | c.520G>T (p.Ala174Ser) | dbSNP gnomAD v2 |
| 5 | g.177992870C= | CA1603814016 | PROP1 | c.520G= (p.Ala174=) | |
| 5 | g.177992870C>G | CA362378554 | PROP1 | c.520G>C (p.Ala174Pro) | |
| 5 | g.177992870C>T | CA362378555 | PROP1 | c.520G>A (p.Ala174Thr) | |
| 5 | g.177992871A>C | CA362378556 | PROP1 | c.519T>G (p.His173Gln) | |
| 5 | g.177992871A>G | CA448346545 | PROP1 | c.519T>C (p.His173=) | |
| 5 | g.177992871A>T | CA362378557 | PROP1 | c.519T>A (p.His173Gln) | |
| 5 | g.177992872T>A | CA362378558 | PROP1 | c.518A>T (p.His173Leu) | |
| 5 | g.177992872T>C | CA362378559 | PROP1 | c.518A>G (p.His173Arg) | |
| 5 | g.177992872T>G | CA362378560 | PROP1 | c.518A>C (p.His173Pro) | |
| 5 | g.177992873G>A | CA362378563 | PROP1 | c.517C>T (p.His173Tyr) | |
| 5 | g.177992873G>C | CA362378562 | PROP1 | c.517C>G (p.His173Asp) | |
| 5 | g.177992873G>T | CA362378561 | PROP1 | c.517C>A (p.His173Asn) | |
| 5 | g.177992874G>A | CA448346546 | PROP1 | c.516C>T (p.Ser172=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992874G>C | CA362378565 | PROP1 | c.516C>G (p.Ser172Arg) | |
| 5 | g.177992874G= | CA1603814017 | PROP1 | c.516C= (p.Ser172=) | |
| 5 | g.177992874G>T | CA362378564 | PROP1 | c.516C>A (p.Ser172Arg) | |
| 5 | g.177992875C>A | CA3587510 | PROP1 | c.515G>T (p.Ser172Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992875C= | CA1603814018 | PROP1 | c.515G= (p.Ser172=) | |
| 5 | g.177992875C>G | CA362378566 | PROP1 | c.515G>C (p.Ser172Thr) | |
| 5 | g.177992875C>T | CA362378567 | PROP1 | c.515G>A (p.Ser172Asn) | gnomAD v4 |
| 5 | g.177992876T>A | CA362378568 | PROP1 | c.514A>T (p.Ser172Cys) | |
| 5 | g.177992876T>C | CA362378569 | PROP1 | c.514A>G (p.Ser172Gly) | gnomAD v4 |
| 5 | g.177992876T>G | CA362378570 | PROP1 | c.514A>C (p.Ser172Arg) | COSMIC |
| 5 | g.177992877G>A | CA3587511 | PROP1 | c.513C>T (p.Tyr171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992877G>C | CA362378571 | PROP1 | c.513C>G (p.Tyr171Ter) | dbSNP |
| 5 | g.177992877G= | CA1603814019 | PROP1 | c.513C= (p.Tyr171=) | |
| 5 | g.177992877G>T | CA362378572 | PROP1 | c.513C>A (p.Tyr171Ter) | |
| 5 | g.177992878T>A | CA362378573 | PROP1 | c.512A>T (p.Tyr171Phe) | |
| 5 | g.177992878T>C | CA362378574 | PROP1 | c.512A>G (p.Tyr171Cys) | |
| 5 | g.177992878T>G | CA362378575 | PROP1 | c.512A>C (p.Tyr171Ser) | |
| 5 | g.177992879A>C | CA362378578 | PROP1 | c.511T>G (p.Tyr171Asp) | |
| 5 | g.177992879A>G | CA362378576 | PROP1 | c.511T>C (p.Tyr171His) | |
| 5 | g.177992879A>T | CA362378577 | PROP1 | c.511T>A (p.Tyr171Asn) | |
| 5 | g.177992880G>A | CA448354855 | PROP1 | c.510C>T (p.Pro170=) | |
| 5 | g.177992880G>C | CA448354853 | PROP1 | c.510C>G (p.Pro170=) | |
| 5 | g.177992880G>T | CA448354851 | PROP1 | c.510C>A (p.Pro170=) | |
| 5 | g.177992881G>A | CA362378579 | PROP1 | c.509C>T (p.Pro170Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992881G>C | CA362378580 | PROP1 | c.509C>G (p.Pro170Arg) | |
| 5 | g.177992881G= | CA1603814020 | PROP1 | c.509C= (p.Pro170=) | |
| 5 | g.177992881G>T | CA362378581 | PROP1 | c.509C>A (p.Pro170His) | gnomAD v4 |
| 5 | g.177992882G>A | CA362378582 | PROP1 | c.508C>T (p.Pro170Ser) | |
| 5 | g.177992882G>C | CA362378583 | PROP1 | c.508C>G (p.Pro170Ala) | dbSNP COSMIC |
| 5 | g.177992882G= | CA1603814021 | PROP1 | c.508C= (p.Pro170=) | |
| 5 | g.177992882G>T | CA362378584 | PROP1 | c.508C>A (p.Pro170Thr) | |
| 5 | g.177992883G>A | CA3587512 | PROP1 | c.507C>T (p.His169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992883G>C | CA362378585 | PROP1 | c.507C>G (p.His169Gln) | |
| 5 | g.177992883G= | CA1603814022 | PROP1 | c.507C= (p.His169=) | |
| 5 | g.177992883G>T | CA362378586 | PROP1 | c.507C>A (p.His169Gln) | |
| 5 | g.177992884T>A | CA362378587 | PROP1 | c.506A>T (p.His169Leu) | |
| 5 | g.177992884T>C | CA362378588 | PROP1 | c.506A>G (p.His169Arg) | |
| 5 | g.177992884T>G | CA362378589 | PROP1 | c.506A>C (p.His169Pro) | |
| 5 | g.177992885G>A | CA362378592 | PROP1 | c.505C>T (p.His169Tyr) | |
| 5 | g.177992885G>C | CA362378591 | PROP1 | c.505C>G (p.His169Asp) | |
| 5 | g.177992885G>T | CA362378590 | PROP1 | c.505C>A (p.His169Asn) | |
| 5 | g.177992886A>C | CA448354878 | PROP1 | c.504T>G (p.Pro168=) | |
| 5 | g.177992886A>G | CA448354883 | PROP1 | c.504T>C (p.Pro168=) | |
| 5 | g.177992886A>T | CA448354880 | PROP1 | c.504T>A (p.Pro168=) | |
| 5 | g.177992887G>A | CA362378593 | PROP1 | c.503C>T (p.Pro168Leu) | |
| 5 | g.177992887G>C | CA362378595 | PROP1 | c.503C>G (p.Pro168Arg) | |
| 5 | g.177992887G>T | CA362378594 | PROP1 | c.503C>A (p.Pro168His) | |
| 5 | g.177992888G>A | CA132897235 | PROP1 | c.502C>T (p.Pro168Ser) | dbSNP gnomAD v4 COSMIC |
| 5 | g.177992888G>C | CA362378596 | PROP1 | c.502C>G (p.Pro168Ala) | |
| 5 | g.177992888G= | CA1603814023 | PROP1 | c.502C= (p.Pro168=) | |
| 5 | g.177992888G>T | CA362378597 | PROP1 | c.502C>A (p.Pro168Thr) | |
| 5 | g.177992889G>A | CA448354893 | PROP1 | c.501C>T (p.Phe167=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177992889G>C | CA362378598 | PROP1 | c.501C>G (p.Phe167Leu) | |
| 5 | g.177992889G>T | CA362378599 | PROP1 | c.501C>A (p.Phe167Leu) | |
| 5 | g.177992890A= | CA1603814024 | PROP1 | c.500T= (p.Phe167=) | |
| 5 | g.177992890A>C | CA362378600 | PROP1 | c.500T>G (p.Phe167Cys) | |
| 5 | g.177992890A>G | CA132897240 | PROP1 | c.500T>C (p.Phe167Ser) | dbSNP |
| 5 | g.177992890A>T | CA362378601 | PROP1 | c.500T>A (p.Phe167Tyr) | |
| 5 | g.177992891A= | CA1603814025 | PROP1 | c.499T= (p.Phe167=) | |
| 5 | g.177992891A>C | CA362378602 | PROP1 | c.499T>G (p.Phe167Val) | |
| 5 | g.177992891A>G | CA362378603 | PROP1 | c.499T>C (p.Phe167Leu) | dbSNP |
| 5 | g.177992891A>T | CA362378604 | PROP1 | c.499T>A (p.Phe167Ile) | |
| 5 | g.177992892G>A | CA448354906 | PROP1 | c.498C>T (p.Cys166=) | |
| 5 | g.177992892G>C | CA362378606 | PROP1 | c.498C>G (p.Cys166Trp) | |
| 5 | g.177992892G>T | CA362378605 | PROP1 | c.498C>A (p.Cys166Ter) | |
| 5 | g.177992893C>A | CA362378607 | PROP1 | c.497G>T (p.Cys166Phe) | gnomAD v4 |
| 5 | g.177992893C= | CA1603814026 | PROP1 | c.497G= (p.Cys166=) | |
| 5 | g.177992893C>G | CA362378608 | PROP1 | c.497G>C (p.Cys166Ser) | |
| 5 | g.177992893C>T | CA3587513 | PROP1 | c.497G>A (p.Cys166Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992894A>C | CA362378609 | PROP1 | c.496T>G (p.Cys166Gly) | |
| 5 | g.177992894A>G | CA362378610 | PROP1 | c.496T>C (p.Cys166Arg) | gnomAD v4 |
| 5 | g.177992894A>T | CA362378611 | PROP1 | c.496T>A (p.Cys166Ser) | |
| 5 | g.177992895G>A | CA448354919 | PROP1 | c.495C>T (p.Thr165=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992895G>C | CA448354920 | PROP1 | c.495C>G (p.Thr165=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177992895G= | CA1603814027 | PROP1 | c.495C= (p.Thr165=) | |
| 5 | g.177992895G>T | CA448354923 | PROP1 | c.495C>A (p.Thr165=) | |
| 5 | g.177992896G>A | CA362378612 | PROP1 | c.494C>T (p.Thr165Ile) | COSMIC |
| 5 | g.177992896G>C | CA362378613 | PROP1 | c.494C>G (p.Thr165Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992896G= | CA1603814028 | PROP1 | c.494C= (p.Thr165=) | |
| 5 | g.177992896G>T | CA362378614 | PROP1 | c.494C>A (p.Thr165Asn) | |
| 5 | g.177992897T>A | CA362378615 | PROP1 | c.493A>T (p.Thr165Ser) | |
| 5 | g.177992897T>C | CA362378616 | PROP1 | c.493A>G (p.Thr165Ala) | |
| 5 | g.177992897T>G | CA362378617 | PROP1 | c.493A>C (p.Thr165Pro) | |
| 5 | g.177992898C>A | CA448354934 | PROP1 | c.492G>T (p.Val164=) | |
| 5 | g.177992898C>G | CA448354935 | PROP1 | c.492G>C (p.Val164=) | |
| 5 | g.177992898C>T | CA448354937 | PROP1 | c.492G>A (p.Val164=) | gnomAD v4 COSMIC |
| 5 | g.177992899A>C | CA362378620 | PROP1 | c.491T>G (p.Val164Gly) | |
| 5 | g.177992899A>G | CA362378619 | PROP1 | c.491T>C (p.Val164Ala) | |
| 5 | g.177992899A>T | CA362378618 | PROP1 | c.491T>A (p.Val164Glu) | |
| 5 | g.177992900C>A | CA362378623 | PROP1 | c.490G>T (p.Val164Leu) | |
| 5 | g.177992900C>G | CA362378621 | PROP1 | c.490G>C (p.Val164Leu) | |
| 5 | g.177992900C>T | CA362378622 | PROP1 | c.490G>A (p.Val164Met) | |
| 5 | g.177992900_177992906delinsCTGGTGG | CA1603814029 | PROP1 | c.484_490delinsCCACCAG (p.Pro162=) | |
| 5 | g.177992901T>A | CA448354954 | PROP1 | c.489A>T (p.Pro163=) | |
| 5 | g.177992901T>C | CA448354956 | PROP1 | c.489A>G (p.Pro163=) | |
| 5 | g.177992901T>G | CA448354951 | PROP1 | c.489A>C (p.Pro163=) | |
| 5 | g.177992912_177992914dup | CA3587515 | PROP1 | c.487_489dup (p.Pro163_Val164insPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992912_177992914del | CA3587514 | PROP1 | c.487_489del (p.Pro163del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992909_177992914del | CA808117610 | PROP1 | c.484_489del (p.Pro162_Pro163del) | dbSNP |
| 5 | g.177992902G>A | CA362378624 | PROP1 | c.488C>T (p.Pro163Leu) | |
| 5 | g.177992902G>C | CA362378625 | PROP1 | c.488C>G (p.Pro163Arg) | |
| 5 | g.177992902G= | CA1603814030 | PROP1 | c.488C= (p.Pro163=) | |
| 5 | g.177992902G>T | CA3587516 | PROP1 | c.488C>A (p.Pro163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992903G>A | CA362378626 | PROP1 | c.487C>T (p.Pro163Ser) | |
| 5 | g.177992903G>C | CA362378627 | PROP1 | c.487C>G (p.Pro163Ala) | |
| 5 | g.177992903G>T | CA362378628 | PROP1 | c.487C>A (p.Pro163Thr) | |
| 5 | g.177992904T>A | CA448354965 | PROP1 | c.486A>T (p.Pro162=) | |
| 5 | g.177992904T>C | CA448354968 | PROP1 | c.486A>G (p.Pro162=) | |
| 5 | g.177992904T>G | CA448354970 | PROP1 | c.486A>C (p.Pro162=) | |
| 5 | g.177992905G>A | CA3587517 | PROP1 | c.485C>T (p.Pro162Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992905G>C | CA362378629 | PROP1 | c.485C>G (p.Pro162Arg) | |
| 5 | g.177992905G= | CA1603814031 | PROP1 | c.485C= (p.Pro162=) | |
| 5 | g.177992905G>T | CA362378630 | PROP1 | c.485C>A (p.Pro162Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992906G>A | CA362378633 | PROP1 | c.484C>T (p.Pro162Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992906G>C | CA362378631 | PROP1 | c.484C>G (p.Pro162Ala) | |
| 5 | g.177992906G= | CA1603814032 | PROP1 | c.484C= (p.Pro162=) | |
| 5 | g.177992906G>T | CA362378632 | PROP1 | c.484C>A (p.Pro162Thr) | |
| 5 | g.177992907T>A | CA448354980 | PROP1 | c.483A>T (p.Pro161=) | |
| 5 | g.177992907T>C | CA448354984 | PROP1 | c.483A>G (p.Pro161=) | |
| 5 | g.177992907T>G | CA448354981 | PROP1 | c.483A>C (p.Pro161=) | |
| 5 | g.177992907T= | CA1603814033 | PROP1 | c.483A= (p.Pro161=) | |
| 5 | g.177992908G>A | CA132897251 | PROP1 | c.482C>T (p.Pro161Leu) | dbSNP |
| 5 | g.177992908G>C | CA362378634 | PROP1 | c.482C>G (p.Pro161Arg) | gnomAD v4 |
| 5 | g.177992908G= | CA1603814035 | PROP1 | c.482C= (p.Pro161=) | |
| 5 | g.177992908G>T | CA362378635 | PROP1 | c.482C>A (p.Pro161Gln) | gnomAD v4 |
| 5 | g.177992909dup | CA1603814034 | PROP1 | c.482dup (p.Pro162ThrfsTer?) | dbSNP |
| 5 | g.177992909G>A | CA362378636 | PROP1 | c.481C>T (p.Pro161Ser) | |
| 5 | g.177992909G>C | CA362378637 | PROP1 | c.481C>G (p.Pro161Ala) | |
| 5 | g.177992909G>T | CA362378638 | PROP1 | c.481C>A (p.Pro161Thr) | |
| 5 | g.177992910T>A | CA448354994 | PROP1 | c.480A>T (p.Pro160=) | COSMIC |
| 5 | g.177992910T>C | CA448354996 | PROP1 | c.480A>G (p.Pro160=) | |
| 5 | g.177992910T>G | CA448354998 | PROP1 | c.480A>C (p.Pro160=) | |
| 5 | g.177992911G>A | CA362378639 | PROP1 | c.479C>T (p.Pro160Leu) | dbSNP |
| 5 | g.177992911G>C | CA362378640 | PROP1 | c.479C>G (p.Pro160Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992911G= | CA1603814036 | PROP1 | c.479C= (p.Pro160=) | |
| 5 | g.177992911G>T | CA362378641 | PROP1 | c.479C>A (p.Pro160Gln) | |
| 5 | g.177992912G>A | CA362378642 | PROP1 | c.478C>T (p.Pro160Ser) | |
| 5 | g.177992912G>C | CA362378643 | PROP1 | c.478C>G (p.Pro160Ala) | dbSNP gnomAD v4 |
| 5 | g.177992912G= | CA1603814037 | PROP1 | c.478C= (p.Pro160=) | |
| 5 | g.177992912G>T | CA362378644 | PROP1 | c.478C>A (p.Pro160Thr) | |
| 5 | g.177992913T>A | CA448355010 | PROP1 | c.477A>T (p.Ala159=) | |
| 5 | g.177992913T>C | CA448355012 | PROP1 | c.477A>G (p.Ala159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992913T>G | CA448355014 | PROP1 | c.477A>C (p.Ala159=) | |
| 5 | g.177992913T= | CA1603814038 | PROP1 | c.477A= (p.Ala159=) | |
| 5 | g.177992916_177992918dup | CA132897255 | PROP1 | c.475_477dup (p.Ala159_Pro160insAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992914G>A | CA132897258 | PROP1 | c.476C>T (p.Ala159Val) | dbSNP |
| 5 | g.177992914G>C | CA362378646 | PROP1 | c.476C>G (p.Ala159Gly) | |
| 5 | g.177992914G= | CA1603814039 | PROP1 | c.476C= (p.Ala159=) | |
| 5 | g.177992914G>T | CA362378645 | PROP1 | c.476C>A (p.Ala159Glu) | |
| 5 | g.177992915C>A | CA362378647 | PROP1 | c.475G>T (p.Ala159Ser) | |
| 5 | g.177992915C>G | CA362378649 | PROP1 | c.475G>C (p.Ala159Pro) | |
| 5 | g.177992915C>T | CA362378648 | PROP1 | c.475G>A (p.Ala159Thr) | |
| 5 | g.177992916T>A | CA448355026 | PROP1 | c.474A>T (p.Ala158=) | ClinVar |
| 5 | g.177992916T>C | CA448355025 | PROP1 | c.474A>G (p.Ala158=) | |
| 5 | g.177992916T>G | CA448355023 | PROP1 | c.474A>C (p.Ala158=) | |
| 5 | g.177992917G>A | CA362378650 | PROP1 | c.473C>T (p.Ala158Val) | |
| 5 | g.177992917G>C | CA362378652 | PROP1 | c.473C>G (p.Ala158Gly) | |
| 5 | g.177992917G= | CA1603814040 | PROP1 | c.473C= (p.Ala158=) | |
| 5 | g.177992917G>T | CA362378651 | PROP1 | c.473C>A (p.Ala158Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992918C>A | CA362378653 | PROP1 | c.472G>T (p.Ala158Ser) | |
| 5 | g.177992918C= | CA1603814041 | PROP1 | c.472G= (p.Ala158=) | |
| 5 | g.177992918C>G | CA362378654 | PROP1 | c.472G>C (p.Ala158Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992918C>T | CA3587518 | PROP1 | c.472G>A (p.Ala158Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992919G>A | CA3587519 | PROP1 | c.471C>T (p.Tyr157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177992919G>C | CA3587520 | PROP1 | c.471C>G (p.Tyr157Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992919G= | CA1603814042 | PROP1 | c.471C= (p.Tyr157=) | |
| 5 | g.177992919G>T | CA362378655 | PROP1 | c.471C>A (p.Tyr157Ter) | |
| 5 | g.177992920T>A | CA362378656 | PROP1 | c.470A>T (p.Tyr157Phe) | |
| 5 | g.177992920T>C | CA362378657 | PROP1 | c.470A>G (p.Tyr157Cys) | gnomAD v4 |
| 5 | g.177992920T>G | CA362378658 | PROP1 | c.470A>C (p.Tyr157Ser) | |
| 5 | g.177992920_177992921delinsTA | CA1603814043 | PROP1 | c.469_470delinsTA (p.Tyr157=) | |
| 5 | g.177992921A>C | CA362378661 | PROP1 | c.469T>G (p.Tyr157Asp) | |
| 5 | g.177992921A>G | CA362378660 | PROP1 | c.469T>C (p.Tyr157His) | |
| 5 | g.177992921A>T | CA362378659 | PROP1 | c.469T>A (p.Tyr157Asn) | |
| 5 | g.177992922del | CA1084892861 | PROP1 | c.469del (p.Tyr157ThrfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992923_177992925del | CA2676775100 | PROP1 | c.467_469del (p.Ser156del) | gnomAD v4 |
| 5 | g.177992922A>C | CA448355047 | PROP1 | c.468T>G (p.Ser156=) | |
| 5 | g.177992922A>G | CA448355049 | PROP1 | c.468T>C (p.Ser156=) | |
| 5 | g.177992922A>T | CA448355050 | PROP1 | c.468T>A (p.Ser156=) | |
| 5 | g.177992923G>A | CA362378662 | PROP1 | c.467C>T (p.Ser156Phe) | gnomAD v4 |
| 5 | g.177992923G>C | CA362378663 | PROP1 | c.467C>G (p.Ser156Cys) | gnomAD v4 |
| 5 | g.177992923G>T | CA362378664 | PROP1 | c.467C>A (p.Ser156Tyr) | |
| 5 | g.177992924A= | CA1603814044 | PROP1 | c.466T= (p.Ser156=) | |
| 5 | g.177992924A>C | CA362378665 | PROP1 | c.466T>G (p.Ser156Ala) | |
| 5 | g.177992924A>G | CA3587521 | PROP1 | c.466T>C (p.Ser156Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992924A>T | CA362378666 | PROP1 | c.466T>A (p.Ser156Thr) | |
| 5 | g.177992925dup | CA2695205845 | PROP1 | c.466dup (p.Ser156PhefsTer?) | |
| 5 | g.177992925A>C | CA362378667 | PROP1 | c.465T>G (p.Tyr155Ter) | |
| 5 | g.177992925A>G | CA448355062 | PROP1 | c.465T>C (p.Tyr155=) | gnomAD v4 |
| 5 | g.177992925A>T | CA362378668 | PROP1 | c.465T>A (p.Tyr155Ter) | |
| 5 | g.177992926del | CA2578500627 | PROP1 | c.464del (p.Tyr155PhefsTer10) | |
| 5 | g.177992926T>A | CA362378669 | PROP1 | c.464A>T (p.Tyr155Phe) | |
| 5 | g.177992926T>C | CA3587522 | PROP1 | c.464A>G (p.Tyr155Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992926T>G | CA362378670 | PROP1 | c.464A>C (p.Tyr155Ser) | |
| 5 | g.177992926T= | CA1603814045 | PROP1 | c.464A= (p.Tyr155=) | |
| 5 | g.177992927del | CA2580074075 | PROP1 | c.463del (p.Tyr155IlefsTer10) | ClinVar gnomAD v4 |
| 5 | g.177992927A= | CA1603814046 | PROP1 | c.463T= (p.Tyr155=) | |
| 5 | g.177992927A>C | CA362378672 | PROP1 | c.463T>G (p.Tyr155Asp) | |
| 5 | g.177992927A>G | CA362378673 | PROP1 | c.463T>C (p.Tyr155His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992927A>T | CA362378671 | PROP1 | c.463T>A (p.Tyr155Asn) | |
| 5 | g.177992928G>A | CA448355073 | PROP1 | c.462C>T (p.Pro154=) | |
| 5 | g.177992928G>C | CA448355078 | PROP1 | c.462C>G (p.Pro154=) | ClinVar |
| 5 | g.177992928G>T | CA448355075 | PROP1 | c.462C>A (p.Pro154=) | COSMIC |
| 5 | g.177992929G>A | CA362378674 | PROP1 | c.461C>T (p.Pro154Leu) | gnomAD v4 |
| 5 | g.177992929G>C | CA362378675 | PROP1 | c.461C>G (p.Pro154Arg) | |
| 5 | g.177992929G>T | CA362378676 | PROP1 | c.461C>A (p.Pro154His) | |
| 5 | g.177992930G>A | CA362378677 | PROP1 | c.460C>T (p.Pro154Ser) | gnomAD v4 |
| 5 | g.177992930G>C | CA362378678 | PROP1 | c.460C>G (p.Pro154Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992930G= | CA1603814047 | PROP1 | c.460C= (p.Pro154=) | |
| 5 | g.177992930G>T | CA362378679 | PROP1 | c.460C>A (p.Pro154Thr) | |
| 5 | g.177992931G>A | CA448355088 | PROP1 | c.459C>T (p.Cys153=) | ClinVar gnomAD v4 |
| 5 | g.177992931G>C | CA362378680 | PROP1 | c.459C>G (p.Cys153Trp) | |
| 5 | g.177992931G>T | CA362378681 | PROP1 | c.459C>A (p.Cys153Ter) | |
| 5 | g.177992932C>A | CA362378682 | PROP1 | c.458G>T (p.Cys153Phe) | gnomAD v4 |
| 5 | g.177992932C= | CA1603814048 | PROP1 | c.458G= (p.Cys153=) | |
| 5 | g.177992932C>G | CA362378683 | PROP1 | c.458G>C (p.Cys153Ser) | dbSNP |
| 5 | g.177992932C>T | CA362378684 | PROP1 | c.458G>A (p.Cys153Tyr) | gnomAD v4 |
| 5 | g.177992933A>C | CA362378687 | PROP1 | c.457T>G (p.Cys153Gly) | |
| 5 | g.177992933A>G | CA362378686 | PROP1 | c.457T>C (p.Cys153Arg) | |
| 5 | g.177992933A>T | CA362378685 | PROP1 | c.457T>A (p.Cys153Ser) | |
| 5 | g.177992934A= | CA1603814049 | PROP1 | c.456T= (p.Ala152=) | |
| 5 | g.177992934A>C | CA448355101 | PROP1 | c.456T>G (p.Ala152=) | |
| 5 | g.177992934A>G | CA243390 | PROP1 | c.456T>C (p.Ala152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992934A>T | CA448355104 | PROP1 | c.456T>A (p.Ala152=) | |
| 5 | g.177992935G>A | CA362378688 | PROP1 | c.455C>T (p.Ala152Val) | gnomAD v4 |
| 5 | g.177992935G>C | CA362378689 | PROP1 | c.455C>G (p.Ala152Gly) | |
| 5 | g.177992935G>T | CA362378690 | PROP1 | c.455C>A (p.Ala152Asp) | |
| 5 | g.177992936C>A | CA362378691 | PROP1 | c.454G>T (p.Ala152Ser) | |
| 5 | g.177992936C>G | CA362378692 | PROP1 | c.454G>C (p.Ala152Pro) | |
| 5 | g.177992936C>T | CA362378693 | PROP1 | c.454G>A (p.Ala152Thr) | |
| 5 | g.177992937A= | CA1603814050 | PROP1 | c.453T= (p.Thr151=) | |
| 5 | g.177992937A>C | CA448355115 | PROP1 | c.453T>G (p.Thr151=) | dbSNP |
| 5 | g.177992937A>G | CA448355117 | PROP1 | c.453T>C (p.Thr151=) | |
| 5 | g.177992937A>T | CA448355113 | PROP1 | c.453T>A (p.Thr151=) | |
| 5 | g.177992938G>A | CA3587523 | PROP1 | c.452C>T (p.Thr151Ile) | dbSNP ExAC gnomAD v2 |
| 5 | g.177992938G>C | CA362378694 | PROP1 | c.452C>G (p.Thr151Ser) | |
| 5 | g.177992938G= | CA1603814051 | PROP1 | c.452C= (p.Thr151=) | |
| 5 | g.177992938G>T | CA362378695 | PROP1 | c.452C>A (p.Thr151Asn) | |
| 5 | g.177992939T>A | CA362378696 | PROP1 | c.451A>T (p.Thr151Ser) | |
| 5 | g.177992939T>C | CA362378697 | PROP1 | c.451A>G (p.Thr151Ala) | gnomAD v4 |
| 5 | g.177992939T>G | CA362378698 | PROP1 | c.451A>C (p.Thr151Pro) | |
| 5 | g.177992940G>A | CA448355127 | PROP1 | c.450C>T (p.Ser150=) | |
| 5 | g.177992940G>C | CA448355128 | PROP1 | c.450C>G (p.Ser150=) | |
| 5 | g.177992940G>T | CA448355130 | PROP1 | c.450C>A (p.Ser150=) | |
| 5 | g.177992941G>A | CA362378700 | PROP1 | c.449C>T (p.Ser150Phe) | gnomAD v4 |
| 5 | g.177992941G>C | CA362378701 | PROP1 | c.449C>G (p.Ser150Cys) | |
| 5 | g.177992941G>T | CA362378699 | PROP1 | c.449C>A (p.Ser150Tyr) | |
| 5 | g.177992942A= | CA1603814052 | PROP1 | c.448T= (p.Ser150=) | |
| 5 | g.177992942A>C | CA362378704 | PROP1 | c.448T>G (p.Ser150Ala) | |
| 5 | g.177992942A>G | CA362378702 | PROP1 | c.448T>C (p.Ser150Pro) | |
| 5 | g.177992942A>T | CA362378703 | PROP1 | c.448T>A (p.Ser150Thr) | dbSNP |
| 5 | g.177992943C>A | CA362378705 | PROP1 | c.447G>T (p.Glu149Asp) | |
| 5 | g.177992943C= | CA1603814053 | PROP1 | c.447G= (p.Glu149=) | |
| 5 | g.177992943C>G | CA362378706 | PROP1 | c.447G>C (p.Glu149Asp) | |
| 5 | g.177992943C>T | CA3587524 | PROP1 | c.447G>A (p.Glu149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992944T>A | CA362378707 | PROP1 | c.446A>T (p.Glu149Val) | |
| 5 | g.177992944T>C | CA362378708 | PROP1 | c.446A>G (p.Glu149Gly) | gnomAD v4 |
| 5 | g.177992944T>G | CA362378709 | PROP1 | c.446A>C (p.Glu149Ala) |