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 |
|---|---|---|---|---|---|
| 10 | g.86923585_86923589del | CA2573145703 | BMPR1A | c.1474-9_1474-5del (n.1474-9_1474-5del) | ClinVar dbSNP |
| 10 | g.86923583_86923584del | CA594897275 | BMPR1A | c.1474-11_1474-10del (n.1474-11_1474-10del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.86923584T>C | CA348737 | BMPR1A | c.1474-10T>C (n.1474-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923584T= | CA1925728584 | BMPR1A | c.1474-10T= (n.1474-10T=) | |
| 10 | g.86923585A= | CA1925728585 | BMPR1A | c.1474-9A= (n.1474-9A=) | |
| 10 | g.86923585A>G | CA332826 | BMPR1A | c.1474-9A>G (n.1474-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923586C>A | CA1925728587 | BMPR1A | c.1474-8C>A (n.1474-8C>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923586C= | CA1925728586 | BMPR1A | c.1474-8C= (n.1474-8C=) | |
| 10 | g.86923586C>T | CA658683574 | BMPR1A | c.1474-8C>T (n.1474-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86923587T>C | CA16613236 | BMPR1A | c.1474-7T>C (n.1474-7T>C) | ClinVar dbSNP |
| 10 | g.86923587T= | CA1925728588 | BMPR1A | c.1474-7T= (n.1474-7T=) | |
| 10 | g.86923590dup | CA2697558541 | BMPR1A | c.1474-4dup (n.1474-4dup) | ClinVar |
| 10 | g.86923589T>C | CA658657995 | BMPR1A | c.1474-5T>C (n.1474-5T>C) | ClinVar dbSNP |
| 10 | g.86923589T= | CA1925728589 | BMPR1A | c.1474-5T= (n.1474-5T=) | |
| 10 | g.86923590T>C | CA2610002108 | BMPR1A | c.1474-4T>C (n.1474-4T>C) | gnomAD v4 |
| 10 | g.86923591C>A | CA658797474 | BMPR1A | c.1474-3C>A (n.1474-3C>A) | ClinVar dbSNP |
| 10 | g.86923591C= | CA1925728590 | BMPR1A | c.1474-3C= (n.1474-3C=) | |
| 10 | g.86923591C>T | CA2722366904 | BMPR1A | c.1474-3C>T (n.1474-3C>T) | dbSNP |
| 10 | g.86923592A= | CA1925728591 | BMPR1A | c.1474-2A= (n.1474-2A=) | |
| 10 | g.86923592A>C | CA377463653 | BMPR1A | c.1474-2A>C (n.1474-2A>C) | |
| 10 | g.86923592A>G | CA164082 | BMPR1A | c.1474-2A>G (n.1474-2A>G) | ClinVar dbSNP |
| 10 | g.86923592A>T | CA377463656 | BMPR1A | c.1474-2A>T (n.1474-2A>T) | |
| 10 | g.86923593G>A | CA377463658 | BMPR1A | c.1474-1G>A (n.1474-1G>A) | |
| 10 | g.86923593G>C | CA377463659 | BMPR1A | c.1474-1G>C (n.1474-1G>C) | ClinVar dbSNP |
| 10 | g.86923593G>T | CA377463661 | BMPR1A | c.1474-1G>T (n.1474-1G>T) | |
| 10 | g.86923594T>A | CA377463663 | BMPR1A | c.1474T>A (p.Cys492Ser) | |
| 10 | g.86923594T>C | CA5585741 | BMPR1A | c.1474T>C (p.Cys492Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86923594T>G | CA377463664 | BMPR1A | c.1474T>G (p.Cys492Gly) | |
| 10 | g.86923594T= | CA1925728592 | BMPR1A | c.1474T= (p.Cys492=) | |
| 10 | g.86923595G>A | CA377463669 | BMPR1A | c.1475G>A (p.Cys492Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923595G>C | CA377463667 | BMPR1A | c.1475G>C (p.Cys492Ser) | |
| 10 | g.86923595G= | CA1925728593 | BMPR1A | c.1475G= (p.Cys492=) | |
| 10 | g.86923595G>T | CA377463665 | BMPR1A | c.1475G>T (p.Cys492Phe) | ClinVar dbSNP |
| 10 | g.86923596T>A | CA377463670 | BMPR1A | c.1476T>A (p.Cys492Ter) | |
| 10 | g.86923596T>C | CA470308795 | BMPR1A | c.1476T>C (p.Cys492=) | |
| 10 | g.86923596T>G | CA377463672 | BMPR1A | c.1476T>G (p.Cys492Trp) | dbSNP |
| 10 | g.86923597C>A | CA377463673 | BMPR1A | c.1477C>A (p.Leu493Ile) | |
| 10 | g.86923597C>G | CA377463674 | BMPR1A | c.1477C>G (p.Leu493Val) | dbSNP gnomAD v4 |
| 10 | g.86923597C>T | CA470308796 | BMPR1A | c.1477C>T (p.Leu493=) | ClinVar dbSNP |
| 10 | g.86923598T>A | CA377463676 | BMPR1A | c.1478T>A (p.Leu493Gln) | |
| 10 | g.86923598T>C | CA377463678 | BMPR1A | c.1478T>C (p.Leu493Pro) | |
| 10 | g.86923598T>G | CA377463680 | BMPR1A | c.1478T>G (p.Leu493Arg) | |
| 10 | g.86923599A= | CA1925728594 | BMPR1A | c.1479A= (p.Leu493=) | |
| 10 | g.86923599A>C | CA470308799 | BMPR1A | c.1479A>C (p.Leu493=) | |
| 10 | g.86923599A>G | CA470308800 | BMPR1A | c.1479A>G (p.Leu493=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86923599A>T | CA470308801 | BMPR1A | c.1479A>T (p.Leu493=) | ClinVar |
| 10 | g.86923600C>A | CA470308802 | BMPR1A | c.1480C>A (p.Arg494=) | ClinVar dbSNP |
| 10 | g.86923600C= | CA1925728595 | BMPR1A | c.1480C= (p.Arg494=) | |
| 10 | g.86923600C>G | CA377463681 | BMPR1A | c.1480C>G (p.Arg494Gly) | ClinVar dbSNP |
| 10 | g.86923600C>T | CA186232 | BMPR1A | c.1480C>T (p.Arg494Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.86923601G>A | CA377463684 | BMPR1A | c.1481G>A (p.Arg494Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923601G>C | CA377463685 | BMPR1A | c.1481G>C (p.Arg494Pro) | dbSNP |
| 10 | g.86923601G= | CA1925728596 | BMPR1A | c.1481G= (p.Arg494=) | |
| 10 | g.86923601G>T | CA377463686 | BMPR1A | c.1481G>T (p.Arg494Leu) | ClinVar dbSNP |
| 10 | g.86923602A>C | CA470308803 | BMPR1A | c.1482A>C (p.Arg494=) | |
| 10 | g.86923602A>G | CA470308805 | BMPR1A | c.1482A>G (p.Arg494=) | |
| 10 | g.86923602A>T | CA470308804 | BMPR1A | c.1482A>T (p.Arg494=) | |
| 10 | g.86923603G>A | CA377463690 | BMPR1A | c.1483G>A (p.Ala495Thr) | |
| 10 | g.86923603G>C | CA377463692 | BMPR1A | c.1483G>C (p.Ala495Pro) | |
| 10 | g.86923603G>T | CA377463688 | BMPR1A | c.1483G>T (p.Ala495Ser) | |
| 10 | g.86923604C>A | CA377463693 | BMPR1A | c.1484C>A (p.Ala495Glu) | dbSNP |
| 10 | g.86923604C= | CA1925728597 | BMPR1A | c.1484C= (p.Ala495=) | |
| 10 | g.86923604C>G | CA377463694 | BMPR1A | c.1484C>G (p.Ala495Gly) | |
| 10 | g.86923604C>T | CA10578900 | BMPR1A | c.1484C>T (p.Ala495Val) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923605A>C | CA470308808 | BMPR1A | c.1485A>C (p.Ala495=) | ClinVar dbSNP |
| 10 | g.86923605A>G | CA470308810 | BMPR1A | c.1485A>G (p.Ala495=) | gnomAD v4 |
| 10 | g.86923605A>T | CA470308811 | BMPR1A | c.1485A>T (p.Ala495=) | |
| 10 | g.86923606G>A | CA5585742 | BMPR1A | c.1486G>A (p.Val496Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 10 | g.86923606G>C | CA377463697 | BMPR1A | c.1486G>C (p.Val496Leu) | |
| 10 | g.86923606G= | CA1925728598 | BMPR1A | c.1486G= (p.Val496=) | |
| 10 | g.86923606G>T | CA377463698 | BMPR1A | c.1486G>T (p.Val496Phe) | |
| 10 | g.86923607T>A | CA377463700 | BMPR1A | c.1487T>A (p.Val496Asp) | ClinVar |
| 10 | g.86923607T>C | CA377463701 | BMPR1A | c.1487T>C (p.Val496Ala) | |
| 10 | g.86923607T>G | CA377463702 | BMPR1A | c.1487T>G (p.Val496Gly) | |
| 10 | g.86923610del | CA2695212413 | BMPR1A | c.1490del (p.Leu497Ter) | |
| 10 | g.86923608T>A | CA470308812 | BMPR1A | c.1488T>A (p.Val496=) | |
| 10 | g.86923608T>C | CA470308813 | BMPR1A | c.1488T>C (p.Val496=) | |
| 10 | g.86923608T>G | CA470308814 | BMPR1A | c.1488T>G (p.Val496=) | |
| 10 | g.86923609T>A | CA377463704 | BMPR1A | c.1489T>A (p.Leu497Met) | |
| 10 | g.86923609T>C | CA470308817 | BMPR1A | c.1489T>C (p.Leu497=) | |
| 10 | g.86923609T>G | CA377463706 | BMPR1A | c.1489T>G (p.Leu497Val) | |
| 10 | g.86923610T>A | CA377463708 | BMPR1A | c.1490T>A (p.Leu497Ter) | |
| 10 | g.86923610T>C | CA377463709 | BMPR1A | c.1490T>C (p.Leu497Ser) | |
| 10 | g.86923610T>G | CA377463710 | BMPR1A | c.1490T>G (p.Leu497Trp) | |
| 10 | g.86923611G>A | CA470308819 | BMPR1A | c.1491G>A (p.Leu497=) | ClinVar dbSNP |
| 10 | g.86923611G>C | CA377463712 | BMPR1A | c.1491G>C (p.Leu497Phe) | ClinVar dbSNP |
| 10 | g.86923611G= | CA1925728599 | BMPR1A | c.1491G= (p.Leu497=) | |
| 10 | g.86923611G>T | CA377463714 | BMPR1A | c.1491G>T (p.Leu497Phe) | ClinVar |
| 10 | g.86923612A>C | CA377463716 | BMPR1A | c.1492A>C (p.Lys498Gln) | |
| 10 | g.86923612A>G | CA377463717 | BMPR1A | c.1492A>G (p.Lys498Glu) | |
| 10 | g.86923612A>T | CA377463719 | BMPR1A | c.1492A>T (p.Lys498Ter) | |
| 10 | g.86923613A>C | CA377463721 | BMPR1A | c.1493A>C (p.Lys498Thr) | |
| 10 | g.86923613A>G | CA377463722 | BMPR1A | c.1493A>G (p.Lys498Arg) | ClinVar dbSNP |
| 10 | g.86923613A>T | CA377463723 | BMPR1A | c.1493A>T (p.Lys498Met) | |
| 10 | g.86923614G>A | CA470308821 | BMPR1A | c.1494G>A (p.Lys498=) | |
| 10 | g.86923614G>C | CA377463725 | BMPR1A | c.1494G>C (p.Lys498Asn) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923614G= | CA1925728600 | BMPR1A | c.1494G= (p.Lys498=) | |
| 10 | g.86923614G>T | CA377463727 | BMPR1A | c.1494G>T (p.Lys498Asn) | |
| 10 | g.86923615C>A | CA377463729 | BMPR1A | c.1495C>A (p.Leu499Ile) | |
| 10 | g.86923615C>G | CA377463730 | BMPR1A | c.1495C>G (p.Leu499Val) | |
| 10 | g.86923615C>T | CA470308822 | BMPR1A | c.1495C>T (p.Leu499=) | |
| 10 | g.86923616T>A | CA377463732 | BMPR1A | c.1496T>A (p.Leu499Gln) | |
| 10 | g.86923616T>C | CA377463734 | BMPR1A | c.1496T>C (p.Leu499Pro) | |
| 10 | g.86923616T>G | CA377463735 | BMPR1A | c.1496T>G (p.Leu499Arg) | |
| 10 | g.86923617A>C | CA470308823 | BMPR1A | c.1497A>C (p.Leu499=) | |
| 10 | g.86923617A>G | CA470308824 | BMPR1A | c.1497A>G (p.Leu499=) | |
| 10 | g.86923617A>T | CA470308825 | BMPR1A | c.1497A>T (p.Leu499=) | |
| 10 | g.86923618A= | CA1925728601 | BMPR1A | c.1498A= (p.Met500=) | |
| 10 | g.86923618A>C | CA377463738 | BMPR1A | c.1498A>C (p.Met500Leu) | |
| 10 | g.86923618A>G | CA5585743 | BMPR1A | c.1498A>G (p.Met500Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923618A>T | CA377463737 | BMPR1A | c.1498A>T (p.Met500Leu) | |
| 10 | g.86923619T>A | CA377463741 | BMPR1A | c.1499T>A (p.Met500Lys) | |
| 10 | g.86923619T>C | CA377463742 | BMPR1A | c.1499T>C (p.Met500Thr) | |
| 10 | g.86923619T>G | CA377463744 | BMPR1A | c.1499T>G (p.Met500Arg) | |
| 10 | g.86923620G>A | CA377463746 | BMPR1A | c.1500G>A (p.Met500Ile) | |
| 10 | g.86923620G>C | CA377463748 | BMPR1A | c.1500G>C (p.Met500Ile) | |
| 10 | g.86923620G= | CA1925728602 | BMPR1A | c.1500G= (p.Met500=) | |
| 10 | g.86923620G>T | CA377463749 | BMPR1A | c.1500G>T (p.Met500Ile) | dbSNP |
| 10 | g.86923621T>A | CA377463753 | BMPR1A | c.1501T>A (p.Ser501Thr) | |
| 10 | g.86923621T>C | CA377463751 | BMPR1A | c.1501T>C (p.Ser501Pro) | |
| 10 | g.86923621T>G | CA377463752 | BMPR1A | c.1501T>G (p.Ser501Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86923621T= | CA1925728603 | BMPR1A | c.1501T= (p.Ser501=) | |
| 10 | g.86923622C>A | CA377463755 | BMPR1A | c.1502C>A (p.Ser501Ter) | |
| 10 | g.86923622C= | CA1925728604 | BMPR1A | c.1502C= (p.Ser501=) | |
| 10 | g.86923622C>G | CA377463757 | BMPR1A | c.1502C>G (p.Ser501Ter) | ClinVar dbSNP |
| 10 | g.86923622C>T | CA377463759 | BMPR1A | c.1502C>T (p.Ser501Leu) | |
| 10 | g.86923623A= | CA1925728605 | BMPR1A | c.1503A= (p.Ser501=) | |
| 10 | g.86923623A>C | CA470308829 | BMPR1A | c.1503A>C (p.Ser501=) | |
| 10 | g.86923623A>G | CA470308830 | BMPR1A | c.1503A>G (p.Ser501=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86923623A>T | CA470308831 | BMPR1A | c.1503A>T (p.Ser501=) | |
| 10 | g.86923624G>A | CA377463761 | BMPR1A | c.1504G>A (p.Glu502Lys) | |
| 10 | g.86923624G>C | CA377463762 | BMPR1A | c.1504G>C (p.Glu502Gln) | |
| 10 | g.86923624G>T | CA377463764 | BMPR1A | c.1504G>T (p.Glu502Ter) | |
| 10 | g.86923625A= | CA1925728606 | BMPR1A | c.1505A= (p.Glu502=) | |
| 10 | g.86923625A>C | CA377463766 | BMPR1A | c.1505A>C (p.Glu502Ala) | ClinVar dbSNP |
| 10 | g.86923625A>G | CA211211768 | BMPR1A | c.1505A>G (p.Glu502Gly) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923625A>T | CA377463767 | BMPR1A | c.1505A>T (p.Glu502Val) | |
| 10 | g.86923626A= | CA1925728607 | BMPR1A | c.1506A= (p.Glu502=) | |
| 10 | g.86923626A>C | CA377463769 | BMPR1A | c.1506A>C (p.Glu502Asp) | ClinVar dbSNP |
| 10 | g.86923626A>G | CA470308832 | BMPR1A | c.1506A>G (p.Glu502=) | |
| 10 | g.86923626A>T | CA377463771 | BMPR1A | c.1506A>T (p.Glu502Asp) | |
| 10 | g.86923627T>A | CA377463772 | BMPR1A | c.1507T>A (p.Cys503Ser) | ClinVar dbSNP |
| 10 | g.86923627T>C | CA377463774 | BMPR1A | c.1507T>C (p.Cys503Arg) | |
| 10 | g.86923627T>G | CA377463776 | BMPR1A | c.1507T>G (p.Cys503Gly) | |
| 10 | g.86923627T= | CA1925728608 | BMPR1A | c.1507T= (p.Cys503=) | |
| 10 | g.86923628G>A | CA353531 | BMPR1A | c.1508G>A (p.Cys503Tyr) | ClinVar dbSNP |
| 10 | g.86923628G>C | CA377463778 | BMPR1A | c.1508G>C (p.Cys503Ser) | |
| 10 | g.86923628G= | CA1925728609 | BMPR1A | c.1508G= (p.Cys503=) | |
| 10 | g.86923628G>T | CA377463780 | BMPR1A | c.1508G>T (p.Cys503Phe) | |
| 10 | g.86923629C>A | CA377463781 | BMPR1A | c.1509C>A (p.Cys503Ter) | dbSNP |
| 10 | g.86923629C>G | CA377463783 | BMPR1A | c.1509C>G (p.Cys503Trp) | |
| 10 | g.86923629C>T | CA470308834 | BMPR1A | c.1509C>T (p.Cys503=) | ClinVar dbSNP |
| 10 | g.86923630T>A | CA377463785 | BMPR1A | c.1510T>A (p.Trp504Arg) | |
| 10 | g.86923630T>C | CA377463786 | BMPR1A | c.1510T>C (p.Trp504Arg) | |
| 10 | g.86923630T>G | CA377463788 | BMPR1A | c.1510T>G (p.Trp504Gly) | |
| 10 | g.86923631G>A | CA10582751 | BMPR1A | c.1511G>A (p.Trp504Ter) | ClinVar dbSNP |
| 10 | g.86923631G>C | CA377463791 | BMPR1A | c.1511G>C (p.Trp504Ser) | |
| 10 | g.86923631G= | CA1925728610 | BMPR1A | c.1511G= (p.Trp504=) | |
| 10 | g.86923631G>T | CA377463790 | BMPR1A | c.1511G>T (p.Trp504Leu) | |
| 10 | g.86923632G>A | CA377463793 | BMPR1A | c.1512G>A (p.Trp504Ter) | dbSNP |
| 10 | g.86923632G>C | CA377463795 | BMPR1A | c.1512G>C (p.Trp504Cys) | |
| 10 | g.86923632G>T | CA377463796 | BMPR1A | c.1512G>T (p.Trp504Cys) | dbSNP |
| 10 | g.86923633G>A | CA5585744 | BMPR1A | c.1513G>A (p.Ala505Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923633G>C | CA377463798 | BMPR1A | c.1513G>C (p.Ala505Pro) | |
| 10 | g.86923633G= | CA1925728611 | BMPR1A | c.1513G= (p.Ala505=) | |
| 10 | g.86923633G>T | CA377463799 | BMPR1A | c.1513G>T (p.Ala505Ser) | |
| 10 | g.86923634C>A | CA377463801 | BMPR1A | c.1514C>A (p.Ala505Asp) | |
| 10 | g.86923634C>G | CA377463803 | BMPR1A | c.1514C>G (p.Ala505Gly) | |
| 10 | g.86923634C>T | CA377463804 | BMPR1A | c.1514C>T (p.Ala505Val) | dbSNP |
| 10 | g.86923635C>A | CA470308836 | BMPR1A | c.1515C>A (p.Ala505=) | ClinVar dbSNP |
| 10 | g.86923635C= | CA1925728612 | BMPR1A | c.1515C= (p.Ala505=) | |
| 10 | g.86923635C>G | CA470308838 | BMPR1A | c.1515C>G (p.Ala505=) | ClinVar |
| 10 | g.86923635C>T | CA470308837 | BMPR1A | c.1515C>T (p.Ala505=) | |
| 10 | g.86923636C>A | CA377463806 | BMPR1A | c.1516C>A (p.His506Asn) | |
| 10 | g.86923636C>G | CA377463807 | BMPR1A | c.1516C>G (p.His506Asp) | |
| 10 | g.86923636C>T | CA377463809 | BMPR1A | c.1516C>T (p.His506Tyr) | ClinVar |
| 10 | g.86923637A>C | CA377463812 | BMPR1A | c.1517A>C (p.His506Pro) | |
| 10 | g.86923637A>G | CA377463814 | BMPR1A | c.1517A>G (p.His506Arg) | |
| 10 | g.86923637A>T | CA377463811 | BMPR1A | c.1517A>T (p.His506Leu) | |
| 10 | g.86923638C>A | CA377463815 | BMPR1A | c.1518C>A (p.His506Gln) | |
| 10 | g.86923638C>G | CA377463817 | BMPR1A | c.1518C>G (p.His506Gln) | |
| 10 | g.86923638C>T | CA470308842 | BMPR1A | c.1518C>T (p.His506=) | |
| 10 | g.86923639A>C | CA377463819 | BMPR1A | c.1519A>C (p.Asn507His) | |
| 10 | g.86923639A>G | CA377463820 | BMPR1A | c.1519A>G (p.Asn507Asp) | |
| 10 | g.86923639A>T | CA377463822 | BMPR1A | c.1519A>T (p.Asn507Tyr) | |
| 10 | g.86923640A= | CA1925728613 | BMPR1A | c.1520A= (p.Asn507=) | |
| 10 | g.86923640A>C | CA377463826 | BMPR1A | c.1520A>C (p.Asn507Thr) | |
| 10 | g.86923640A>G | CA5585745 | BMPR1A | c.1520A>G (p.Asn507Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923640A>T | CA377463825 | BMPR1A | c.1520A>T (p.Asn507Ile) | |
| 10 | g.86923641T>A | CA377463827 | BMPR1A | c.1521T>A (p.Asn507Lys) | |
| 10 | g.86923641T>C | CA470308843 | BMPR1A | c.1521T>C (p.Asn507=) | |
| 10 | g.86923641T>G | CA377463829 | BMPR1A | c.1521T>G (p.Asn507Lys) | |
| 10 | g.86923642C>A | CA377463831 | BMPR1A | c.1522C>A (p.Pro508Thr) | dbSNP |
| 10 | g.86923642C>G | CA377463832 | BMPR1A | c.1522C>G (p.Pro508Ala) | |
| 10 | g.86923642C>T | CA377463834 | BMPR1A | c.1522C>T (p.Pro508Ser) | |
| 10 | g.86923642_86923643insAAACACACCCAACA | CA2788869489 | BMPR1A | c.1522_1523insAAACACACCCAACA (p.Pro508GlnfsTer13) | |
| 10 | g.86923643C>A | CA377463839 | BMPR1A | c.1523C>A (p.Pro508Gln) | |
| 10 | g.86923643C>G | CA377463836 | BMPR1A | c.1523C>G (p.Pro508Arg) | |
| 10 | g.86923643C>T | CA377463838 | BMPR1A | c.1523C>T (p.Pro508Leu) | dbSNP |
| 10 | g.86923644A>C | CA470308847 | BMPR1A | c.1524A>C (p.Pro508=) | ClinVar |
| 10 | g.86923644A>G | CA470308846 | BMPR1A | c.1524A>G (p.Pro508=) | |
| 10 | g.86923644A>T | CA470308845 | BMPR1A | c.1524A>T (p.Pro508=) | |
| 10 | g.86923645G>A | CA377463841 | BMPR1A | c.1525G>A (p.Ala509Thr) | dbSNP |
| 10 | g.86923645G>C | CA377463844 | BMPR1A | c.1525G>C (p.Ala509Pro) | dbSNP |
| 10 | g.86923645G= | CA1925728614 | BMPR1A | c.1525G= (p.Ala509=) | |
| 10 | g.86923645G>T | CA377463842 | BMPR1A | c.1525G>T (p.Ala509Ser) | ClinVar dbSNP |
| 10 | g.86923646C>A | CA377463846 | BMPR1A | c.1526C>A (p.Ala509Asp) | dbSNP |
| 10 | g.86923646C>G | CA377463847 | BMPR1A | c.1526C>G (p.Ala509Gly) | |
| 10 | g.86923646C>T | CA377463848 | BMPR1A | c.1526C>T (p.Ala509Val) | |
| 10 | g.86923647C>A | CA470308849 | BMPR1A | c.1527C>A (p.Ala509=) | |
| 10 | g.86923647C>G | CA470308850 | BMPR1A | c.1527C>G (p.Ala509=) | |
| 10 | g.86923647C>T | CA470308851 | BMPR1A | c.1527C>T (p.Ala509=) | gnomAD v4 |
| 10 | g.86923648T>A | CA377463850 | BMPR1A | c.1528T>A (p.Ser510Thr) | |
| 10 | g.86923648T>C | CA377463851 | BMPR1A | c.1528T>C (p.Ser510Pro) | ClinVar dbSNP |
| 10 | g.86923648T>G | CA377463853 | BMPR1A | c.1528T>G (p.Ser510Ala) | |
| 10 | g.86923649C>A | CA377463855 | BMPR1A | c.1529C>A (p.Ser510Tyr) | dbSNP |
| 10 | g.86923649C= | CA1925728615 | BMPR1A | c.1529C= (p.Ser510=) | |
| 10 | g.86923649C>G | CA377463856 | BMPR1A | c.1529C>G (p.Ser510Cys) | ClinVar dbSNP |
| 10 | g.86923649C>T | CA377463857 | BMPR1A | c.1529C>T (p.Ser510Phe) | |
| 10 | g.86923650C>A | CA470308852 | BMPR1A | c.1530C>A (p.Ser510=) | |
| 10 | g.86923650C>G | CA470308853 | BMPR1A | c.1530C>G (p.Ser510=) | |
| 10 | g.86923650C>T | CA470308854 | BMPR1A | c.1530C>T (p.Ser510=) | dbSNP |
| 10 | g.86923651A>C | CA470308855 | BMPR1A | c.1531A>C (p.Arg511=) | |
| 10 | g.86923651A>G | CA377463859 | BMPR1A | c.1531A>G (p.Arg511Gly) | |
| 10 | g.86923651A>T | CA377463861 | BMPR1A | c.1531A>T (p.Arg511Ter) | |
| 10 | g.86923652G>A | CA377463865 | BMPR1A | c.1532G>A (p.Arg511Lys) | |
| 10 | g.86923652G>C | CA16619013 | BMPR1A | c.1532G>C (p.Arg511Thr) | ClinVar dbSNP |
| 10 | g.86923652G= | CA1925728616 | BMPR1A | c.1532G= (p.Arg511=) | |
| 10 | g.86923652G>T | CA377463863 | BMPR1A | c.1532G>T (p.Arg511Ile) | |
| 10 | g.86923652_86923653delinsGA | CA1925728617 | BMPR1A | c.1532_1533delinsGA (p.Arg511=) | |
| 10 | g.86923653del | CA1139661566 | BMPR1A | c.1533del (p.Arg511SerfsTer5) | ClinVar dbSNP |
| 10 | g.86923653A= | CA1925728618 | BMPR1A | c.1533A= (p.Arg511=) | |
| 10 | g.86923653A>C | CA298526 | BMPR1A | c.1533A>C (p.Arg511Ser) | ClinVar dbSNP |
| 10 | g.86923653A>G | CA470308856 | BMPR1A | c.1533A>G (p.Arg511=) | |
| 10 | g.86923653A>T | CA377463867 | BMPR1A | c.1533A>T (p.Arg511Ser) | ClinVar |
| 10 | g.86923654C>A | CA377463868 | BMPR1A | c.1534C>A (p.Leu512Ile) | ClinVar dbSNP |
| 10 | g.86923654C= | CA1925728619 | BMPR1A | c.1534C= (p.Leu512=) | |
| 10 | g.86923654C>G | CA377463870 | BMPR1A | c.1534C>G (p.Leu512Val) | dbSNP |
| 10 | g.86923654C>T | CA377463872 | BMPR1A | c.1534C>T (p.Leu512Phe) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923655T>A | CA377463874 | BMPR1A | c.1535T>A (p.Leu512His) | ClinVar |
| 10 | g.86923655T>C | CA377463875 | BMPR1A | c.1535T>C (p.Leu512Pro) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923655T>G | CA377463876 | BMPR1A | c.1535T>G (p.Leu512Arg) | |
| 10 | g.86923655T= | CA1925728620 | BMPR1A | c.1535T= (p.Leu512=) | |
| 10 | g.86923656C>A | CA470308859 | BMPR1A | c.1536C>A (p.Leu512=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923656C= | CA1925728621 | BMPR1A | c.1536C= (p.Leu512=) | |
| 10 | g.86923656C>G | CA470308861 | BMPR1A | c.1536C>G (p.Leu512=) | gnomAD v4 |
| 10 | g.86923656C>T | CA5585746 | BMPR1A | c.1536C>T (p.Leu512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923657A>C | CA377463877 | BMPR1A | c.1537A>C (p.Thr513Pro) | |
| 10 | g.86923657A>G | CA377463879 | BMPR1A | c.1537A>G (p.Thr513Ala) | ClinVar |
| 10 | g.86923657A>T | CA377463881 | BMPR1A | c.1537A>T (p.Thr513Ser) | |
| 10 | g.86923658C>A | CA377463886 | BMPR1A | c.1538C>A (p.Thr513Lys) | dbSNP |
| 10 | g.86923658C= | CA1925728622 | BMPR1A | c.1538C= (p.Thr513=) | |
| 10 | g.86923658C>G | CA377463884 | BMPR1A | c.1538C>G (p.Thr513Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86923658C>T | CA377463883 | BMPR1A | c.1538C>T (p.Thr513Ile) | |
| 10 | g.86923659A= | CA1925728623 | BMPR1A | c.1539A= (p.Thr513=) | |
| 10 | g.86923659A>C | CA470308862 | BMPR1A | c.1539A>C (p.Thr513=) | |
| 10 | g.86923659A>G | CA470308863 | BMPR1A | c.1539A>G (p.Thr513=) | ClinVar dbSNP |
| 10 | g.86923659A>T | CA5585747 | BMPR1A | c.1539A>T (p.Thr513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86923660G>A | CA377463888 | BMPR1A | c.1540G>A (p.Ala514Thr) | dbSNP |
| 10 | g.86923660G>C | CA377463889 | BMPR1A | c.1540G>C (p.Ala514Pro) | |
| 10 | g.86923660G>T | CA377463891 | BMPR1A | c.1540G>T (p.Ala514Ser) | |
| 10 | g.86923661C>A | CA377463893 | BMPR1A | c.1541C>A (p.Ala514Glu) | |
| 10 | g.86923661C>G | CA377463894 | BMPR1A | c.1541C>G (p.Ala514Gly) | |
| 10 | g.86923661C>T | CA377463895 | BMPR1A | c.1541C>T (p.Ala514Val) | |
| 10 | g.86923662A= | CA1925728624 | BMPR1A | c.1542A= (p.Ala514=) | |
| 10 | g.86923662A>C | CA470308864 | BMPR1A | c.1542A>C (p.Ala514=) | |
| 10 | g.86923662A>G | CA470308865 | BMPR1A | c.1542A>G (p.Ala514=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923662A>T | CA470308866 | BMPR1A | c.1542A>T (p.Ala514=) | |
| 10 | g.86923663T>A | CA377463897 | BMPR1A | c.1543T>A (p.Leu515Met) | |
| 10 | g.86923663T>C | CA5585748 | BMPR1A | c.1543T>C (p.Leu515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86923663T>G | CA377463900 | BMPR1A | c.1543T>G (p.Leu515Val) | |
| 10 | g.86923663T= | CA1925728625 | BMPR1A | c.1543T= (p.Leu515=) | |
| 10 | g.86923664T>A | CA377463901 | BMPR1A | c.1544T>A (p.Leu515Ter) | |
| 10 | g.86923664T>C | CA377463902 | BMPR1A | c.1544T>C (p.Leu515Ser) | |
| 10 | g.86923664T>G | CA377463903 | BMPR1A | c.1544T>G (p.Leu515Trp) | |
| 10 | g.86923665G>A | CA470308867 | BMPR1A | c.1545G>A (p.Leu515=) | gnomAD v4 |
| 10 | g.86923665G>C | CA377463905 | BMPR1A | c.1545G>C (p.Leu515Phe) | |
| 10 | g.86923665G>T | CA377463907 | BMPR1A | c.1545G>T (p.Leu515Phe) | |
| 10 | g.86923666A>C | CA470308868 | BMPR1A | c.1546A>C (p.Arg516=) | |
| 10 | g.86923666A>G | CA377463908 | BMPR1A | c.1546A>G (p.Arg516Gly) | |
| 10 | g.86923666A>T | CA377463910 | BMPR1A | c.1546A>T (p.Arg516Ter) | |
| 10 | g.86923667G>A | CA377463911 | BMPR1A | c.1547G>A (p.Arg516Lys) | |
| 10 | g.86923667G>C | CA377463913 | BMPR1A | c.1547G>C (p.Arg516Thr) | |
| 10 | g.86923667G>T | CA377463915 | BMPR1A | c.1547G>T (p.Arg516Ile) | |
| 10 | g.86923668A>C | CA377463916 | BMPR1A | c.1548A>C (p.Arg516Ser) | |
| 10 | g.86923668A>G | CA470308869 | BMPR1A | c.1548A>G (p.Arg516=) | |
| 10 | g.86923668A>T | CA377463917 | BMPR1A | c.1548A>T (p.Arg516Ser) | |
| 10 | g.86923669del | CA2573053357 | BMPR1A | c.1549del (p.Ile517LeufsTer14) | ClinVar dbSNP |
| 10 | g.86923669A= | CA1925728626 | BMPR1A | c.1549A= (p.Ile517=) | |
| 10 | g.86923669A>C | CA377463919 | BMPR1A | c.1549A>C (p.Ile517Leu) | |
| 10 | g.86923669A>G | CA5585749 | BMPR1A | c.1549A>G (p.Ile517Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.86923669A>T | CA377463921 | BMPR1A | c.1549A>T (p.Ile517Phe) | |
| 10 | g.86923670T>A | CA377463923 | BMPR1A | c.1550T>A (p.Ile517Asn) | |
| 10 | g.86923670T>C | CA377463924 | BMPR1A | c.1550T>C (p.Ile517Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923670T>G | CA377463926 | BMPR1A | c.1550T>G (p.Ile517Ser) | ClinVar dbSNP |
| 10 | g.86923670T= | CA1925728627 | BMPR1A | c.1550T= (p.Ile517=) | |
| 10 | g.86923671T>A | CA470308870 | BMPR1A | c.1551T>A (p.Ile517=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.86923671T>C | CA470308871 | BMPR1A | c.1551T>C (p.Ile517=) | dbSNP gnomAD v2 |
| 10 | g.86923671T>G | CA377463928 | BMPR1A | c.1551T>G (p.Ile517Met) | ClinVar |
| 10 | g.86923671T= | CA1925728629 | BMPR1A | c.1551T= (p.Ile517=) | |
| 10 | g.86923671_86923674delinsTAAG | CA1925728628 | BMPR1A | c.1551_1554delinsTAAG (p.Ile517=) | |
| 10 | g.86923672A= | CA1925728630 | BMPR1A | c.1552A= (p.Lys518=) | |
| 10 | g.86923672A>C | CA377463931 | BMPR1A | c.1552A>C (p.Lys518Gln) | |
| 10 | g.86923672A>G | CA377463933 | BMPR1A | c.1552A>G (p.Lys518Glu) | |
| 10 | g.86923672A>T | CA377463929 | BMPR1A | c.1552A>T (p.Lys518Ter) | |
| 10 | g.86923676_86923678del | CA915947549 | BMPR1A | c.1556_1558del (p.Lys519del) | ClinVar dbSNP |
| 10 | g.86923672_86923673insTAAT | CA915947550 | BMPR1A | c.1552_1553insTAAT (p.Lys518IlefsTer10) | ClinVar dbSNP |
| 10 | g.86923673A>C | CA377463935 | BMPR1A | c.1553A>C (p.Lys518Thr) | |
| 10 | g.86923673A>G | CA377463937 | BMPR1A | c.1553A>G (p.Lys518Arg) | |
| 10 | g.86923673A>T | CA377463936 | BMPR1A | c.1553A>T (p.Lys518Met) | |
| 10 | g.86923674G>A | CA470308872 | BMPR1A | c.1554G>A (p.Lys518=) | |
| 10 | g.86923674G>C | CA377463939 | BMPR1A | c.1554G>C (p.Lys518Asn) | ClinVar dbSNP |
| 10 | g.86923674G= | CA1925728631 | BMPR1A | c.1554G= (p.Lys518=) | |
| 10 | g.86923674G>T | CA377463941 | BMPR1A | c.1554G>T (p.Lys518Asn) | |
| 10 | g.86923675A>C | CA377463942 | BMPR1A | c.1555A>C (p.Lys519Gln) | |
| 10 | g.86923675A>G | CA377463944 | BMPR1A | c.1555A>G (p.Lys519Glu) | |
| 10 | g.86923675A>T | CA377463945 | BMPR1A | c.1555A>T (p.Lys519Ter) | |
| 10 | g.86923676A>C | CA377463947 | BMPR1A | c.1556A>C (p.Lys519Thr) | |
| 10 | g.86923676A>G | CA377463949 | BMPR1A | c.1556A>G (p.Lys519Arg) | |
| 10 | g.86923676A>T | CA377463950 | BMPR1A | c.1556A>T (p.Lys519Met) | |
| 10 | g.86923677G>A | CA470308873 | BMPR1A | c.1557G>A (p.Lys519=) | ClinVar dbSNP |
| 10 | g.86923677G>C | CA377463952 | BMPR1A | c.1557G>C (p.Lys519Asn) | dbSNP |
| 10 | g.86923677G>T | CA377463953 | BMPR1A | c.1557G>T (p.Lys519Asn) | dbSNP |
| 10 | g.86923678A>C | CA377463955 | BMPR1A | c.1558A>C (p.Thr520Pro) | |
| 10 | g.86923678A>G | CA377463957 | BMPR1A | c.1558A>G (p.Thr520Ala) | ClinVar |
| 10 | g.86923678A>T | CA377463958 | BMPR1A | c.1558A>T (p.Thr520Ser) | |
| 10 | g.86923679C>A | CA377463960 | BMPR1A | c.1559C>A (p.Thr520Lys) | |
| 10 | g.86923679C= | CA1925728632 | BMPR1A | c.1559C= (p.Thr520=) | |
| 10 | g.86923679C>G | CA377463963 | BMPR1A | c.1559C>G (p.Thr520Arg) | dbSNP |
| 10 | g.86923679C>T | CA377463961 | BMPR1A | c.1559C>T (p.Thr520Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.86923679_86923680insTT | CA658657997 | BMPR1A | c.1559_1560insTT (p.Leu521CysfsTer11) | ClinVar dbSNP |
| 10 | g.86923680G>A | CA201034 | BMPR1A | c.1560G>A (p.Thr520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86923680G>C | CA470308874 | BMPR1A | c.1560G>C (p.Thr520=) | |
| 10 | g.86923680G= | CA1925728633 | BMPR1A | c.1560G= (p.Thr520=) | |
| 10 | g.86923680G>T | CA470308875 | BMPR1A | c.1560G>T (p.Thr520=) | ClinVar dbSNP |
| 10 | g.86923681C>A | CA377463965 | BMPR1A | c.1561C>A (p.Leu521Ile) | |
| 10 | g.86923681C>G | CA377463967 | BMPR1A | c.1561C>G (p.Leu521Val) | |
| 10 | g.86923681C>T | CA377463969 | BMPR1A | c.1561C>T (p.Leu521Phe) | ClinVar COSMIC COSMIC |
| 10 | g.86923682T>A | CA377463970 | BMPR1A | c.1562T>A (p.Leu521His) | |
| 10 | g.86923682T>C | CA377463971 | BMPR1A | c.1562T>C (p.Leu521Pro) | ClinVar dbSNP |
| 10 | g.86923682T>G | CA377463973 | BMPR1A | c.1562T>G (p.Leu521Arg) | |
| 10 | g.86923682T= | CA1925728634 | BMPR1A | c.1562T= (p.Leu521=) | |
| 10 | g.86923683T>A | CA470308876 | BMPR1A | c.1563T>A (p.Leu521=) | |
| 10 | g.86923683T>C | CA470308877 | BMPR1A | c.1563T>C (p.Leu521=) | |
| 10 | g.86923683T>G | CA470308878 | BMPR1A | c.1563T>G (p.Leu521=) | |
| 10 | g.86923684G>A | CA377463975 | BMPR1A | c.1564G>A (p.Ala522Thr) | gnomAD v4 |
| 10 | g.86923684G>C | CA377463977 | BMPR1A | c.1564G>C (p.Ala522Pro) | |
| 10 | g.86923684G>T | CA377463978 | BMPR1A | c.1564G>T (p.Ala522Ser) |