Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202519003C>A | CA350340543 | BMPR2 | c.803C>A (p.Thr268Asn) c.734C>A (p.Thr245Asn) | |
2 | g.202519003C= | CA1321539735 | BMPR2 | c.803C= (p.Thr268=) c.734C= (p.Thr245=) | |
2 | g.202519003C>G | CA2061209 | BMPR2 | c.803C>G (p.Thr268Ser) c.734C>G (p.Thr245Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519003C>T | CA350340544 | BMPR2 | c.803C>T (p.Thr268Ile) c.734C>T (p.Thr245Ile) | |
2 | g.202519003_202519004delinsCT | CA1321539734 | BMPR2 | c.803_804delinsCT (p.Thr268=) c.734_735delinsCT (p.Thr245=) | |
2 | g.202519004del | CA645293820 | BMPR2 | c.804del (p.Ala269GlnfsTer10) c.735del (p.Ala246GlnfsTer10) | ClinVar dbSNP |
2 | g.202519004T>A | CA430839746 | BMPR2 | c.804T>A (p.Thr268=) c.735T>A (p.Thr245=) | |
2 | g.202519004T>C | CA430839747 | BMPR2 | c.804T>C (p.Thr268=) c.735T>C (p.Thr245=) | ClinVar gnomAD v4 |
2 | g.202519004T>G | CA2061210 | BMPR2 | c.804T>G (p.Thr268=) c.735T>G (p.Thr245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519004T= | CA1321539736 | BMPR2 | c.804T= (p.Thr268=) c.735T= (p.Thr245=) | |
2 | g.202519005G>A | CA350340545 | BMPR2 | c.805G>A (p.Ala269Thr) c.736G>A (p.Ala246Thr) | |
2 | g.202519005G>C | CA350340546 | BMPR2 | c.805G>C (p.Ala269Pro) c.736G>C (p.Ala246Pro) | |
2 | g.202519005G>T | CA350340547 | BMPR2 | c.805G>T (p.Ala269Ser) c.736G>T (p.Ala246Ser) | |
2 | g.202519006C>A | CA350340548 | BMPR2 | c.806C>A (p.Ala269Glu) c.737C>A (p.Ala246Glu) | |
2 | g.202519006C>G | CA350340549 | BMPR2 | c.806C>G (p.Ala269Gly) c.737C>G (p.Ala246Gly) | |
2 | g.202519006C>T | CA350340550 | BMPR2 | c.806C>T (p.Ala269Val) c.737C>T (p.Ala246Val) | |
2 | g.202519007A>C | CA430839748 | BMPR2 | c.807A>C (p.Ala269=) c.738A>C (p.Ala246=) | |
2 | g.202519007A>G | CA430839749 | BMPR2 | c.807A>G (p.Ala269=) c.738A>G (p.Ala246=) | |
2 | g.202519007A>T | CA430839750 | BMPR2 | c.807A>T (p.Ala269=) c.738A>T (p.Ala246=) | |
2 | g.202519008G>A | CA350340552 | BMPR2 | c.808G>A (p.Asp270Asn) c.739G>A (p.Asp247Asn) | |
2 | g.202519008G>C | CA350340553 | BMPR2 | c.808G>C (p.Asp270His) c.739G>C (p.Asp247His) | |
2 | g.202519008G>T | CA350340551 | BMPR2 | c.808G>T (p.Asp270Tyr) c.739G>T (p.Asp247Tyr) | |
2 | g.202519009A= | CA1321539737 | BMPR2 | c.809A= (p.Asp270=) c.740A= (p.Asp247=) | |
2 | g.202519009A>C | CA350340554 | BMPR2 | c.809A>C (p.Asp270Ala) c.740A>C (p.Asp247Ala) | |
2 | g.202519009A>G | CA350340555 | BMPR2 | c.809A>G (p.Asp270Gly) c.740A>G (p.Asp247Gly) | |
2 | g.202519009A>T | CA350340556 | BMPR2 | c.809A>T (p.Asp270Val) c.740A>T (p.Asp247Val) | dbSNP |
2 | g.202519010T>A | CA350340557 | BMPR2 | c.810T>A (p.Asp270Glu) c.741T>A (p.Asp247Glu) | |
2 | g.202519010T>C | CA430839751 | BMPR2 | c.810T>C (p.Asp270=) c.741T>C (p.Asp247=) | |
2 | g.202519010T>G | CA350340558 | BMPR2 | c.810T>G (p.Asp270Glu) c.741T>G (p.Asp247Glu) | |
2 | g.202519011G>A | CA350340561 | BMPR2 | c.811G>A (p.Gly271Arg) c.742G>A (p.Gly248Arg) | gnomAD v4 |
2 | g.202519011G>C | CA350340560 | BMPR2 | c.811G>C (p.Gly271Arg) c.742G>C (p.Gly248Arg) | |
2 | g.202519011G>T | CA350340559 | BMPR2 | c.811G>T (p.Gly271Ter) c.742G>T (p.Gly248Ter) | |
2 | g.202519012G>A | CA350340562 | BMPR2 | c.812G>A (p.Gly271Glu) c.743G>A (p.Gly248Glu) | |
2 | g.202519012G>C | CA350340563 | BMPR2 | c.812G>C (p.Gly271Ala) c.743G>C (p.Gly248Ala) | |
2 | g.202519012G>T | CA350340564 | BMPR2 | c.812G>T (p.Gly271Val) c.743G>T (p.Gly248Val) | |
2 | g.202519013A>C | CA430839753 | BMPR2 | c.813A>C (p.Gly271=) c.744A>C (p.Gly248=) | |
2 | g.202519013A>G | CA430839754 | BMPR2 | c.813A>G (p.Gly271=) c.744A>G (p.Gly248=) | |
2 | g.202519013A>T | CA430839752 | BMPR2 | c.813A>T (p.Gly271=) c.744A>T (p.Gly248=) | |
2 | g.202519014C>A | CA350340565 | BMPR2 | c.814C>A (p.Arg272Ser) c.745C>A (p.Arg249Ser) | |
2 | g.202519014C= | CA1321539738 | BMPR2 | c.814C= (p.Arg272=) c.745C= (p.Arg249=) | |
2 | g.202519014C>G | CA350340566 | BMPR2 | c.814C>G (p.Arg272Gly) c.745C>G (p.Arg249Gly) | |
2 | g.202519014C>T | CA2061211 | BMPR2 | c.814C>T (p.Arg272Cys) c.745C>T (p.Arg249Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202519015G>A | CA2061212 | BMPR2 | c.815G>A (p.Arg272His) c.746G>A (p.Arg249His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519015G>C | CA350340568 | BMPR2 | c.815G>C (p.Arg272Pro) c.746G>C (p.Arg249Pro) | |
2 | g.202519015G= | CA1321539739 | BMPR2 | c.815G= (p.Arg272=) c.746G= (p.Arg249=) | |
2 | g.202519015G>T | CA350340567 | BMPR2 | c.815G>T (p.Arg272Leu) c.746G>T (p.Arg249Leu) | gnomAD v4 |
2 | g.202519016C>A | CA430839755 | BMPR2 | c.816C>A (p.Arg272=) c.747C>A (p.Arg249=) | |
2 | g.202519016C>G | CA430839756 | BMPR2 | c.816C>G (p.Arg272=) c.747C>G (p.Arg249=) | |
2 | g.202519016C>T | CA430839757 | BMPR2 | c.816C>T (p.Arg272=) c.747C>T (p.Arg249=) | |
2 | g.202519017A= | CA1321539740 | BMPR2 | c.817A= (p.Met273=) c.748A= (p.Met250=) | |
2 | g.202519017A>C | CA350340569 | BMPR2 | c.817A>C (p.Met273Leu) c.748A>C (p.Met250Leu) | |
2 | g.202519017A>G | CA350340570 | BMPR2 | c.817A>G (p.Met273Val) c.748A>G (p.Met250Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519017A>T | CA350340571 | BMPR2 | c.817A>T (p.Met273Leu) c.748A>T (p.Met250Leu) | |
2 | g.202519022_202519039del | CA2586965536 | BMPR2 | c.822_839del (p.Tyr275_Glu280del) c.753_770del (p.Tyr252_Glu257del) | |
2 | g.202519018T>A | CA350340572 | BMPR2 | c.818T>A (p.Met273Lys) c.749T>A (p.Met250Lys) | |
2 | g.202519018T>C | CA350340573 | BMPR2 | c.818T>C (p.Met273Thr) c.749T>C (p.Met250Thr) | gnomAD v4 |
2 | g.202519018T>G | CA350340574 | BMPR2 | c.818T>G (p.Met273Arg) c.749T>G (p.Met250Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519018T= | CA1321539741 | BMPR2 | c.818T= (p.Met273=) c.749T= (p.Met250=) | |
2 | g.202519019G>A | CA350340576 | BMPR2 | c.819G>A (p.Met273Ile) c.750G>A (p.Met250Ile) | |
2 | g.202519019G>C | CA350340578 | BMPR2 | c.819G>C (p.Met273Ile) c.750G>C (p.Met250Ile) | |
2 | g.202519019G>T | CA350340580 | BMPR2 | c.819G>T (p.Met273Ile) c.750G>T (p.Met250Ile) | |
2 | g.202519020G>A | CA350340581 | BMPR2 | c.820G>A (p.Glu274Lys) c.751G>A (p.Glu251Lys) | |
2 | g.202519020G>C | CA350340583 | BMPR2 | c.820G>C (p.Glu274Gln) c.751G>C (p.Glu251Gln) | |
2 | g.202519020G>T | CA350340584 | BMPR2 | c.820G>T (p.Glu274Ter) c.751G>T (p.Glu251Ter) | |
2 | g.202519021A>C | CA350340587 | BMPR2 | c.821A>C (p.Glu274Ala) c.752A>C (p.Glu251Ala) | |
2 | g.202519021A>G | CA350340586 | BMPR2 | c.821A>G (p.Glu274Gly) c.752A>G (p.Glu251Gly) | |
2 | g.202519021A>T | CA350340585 | BMPR2 | c.821A>T (p.Glu274Val) c.752A>T (p.Glu251Val) | |
2 | g.202519022A= | CA1321539742 | BMPR2 | c.822A= (p.Glu274=) c.753A= (p.Glu251=) | |
2 | g.202519022A>C | CA350340588 | BMPR2 | c.822A>C (p.Glu274Asp) c.753A>C (p.Glu251Asp) | |
2 | g.202519022A>G | CA430839758 | BMPR2 | c.822A>G (p.Glu274=) c.753A>G (p.Glu251=) | gnomAD v4 |
2 | g.202519022A>T | CA350340589 | BMPR2 | c.822A>T (p.Glu274Asp) c.753A>T (p.Glu251Asp) | |
2 | g.202519023T>A | CA350340590 | BMPR2 | c.823T>A (p.Tyr275Asn) c.754T>A (p.Tyr252Asn) | |
2 | g.202519023T>C | CA350340592 | BMPR2 | c.823T>C (p.Tyr275His) c.754T>C (p.Tyr252His) | gnomAD v4 |
2 | g.202519023T>G | CA350340591 | BMPR2 | c.823T>G (p.Tyr275Asp) c.754T>G (p.Tyr252Asp) | |
2 | g.202519023dup | CA915941647 | BMPR2 | c.823dup (p.Tyr275LeufsTer23) c.754dup (p.Tyr252LeufsTer23) | ClinVar dbSNP |
2 | g.202519024A>C | CA350340593 | BMPR2 | c.824A>C (p.Tyr275Ser) c.755A>C (p.Tyr252Ser) | |
2 | g.202519024A>G | CA350340595 | BMPR2 | c.824A>G (p.Tyr275Cys) c.755A>G (p.Tyr252Cys) | |
2 | g.202519024A>T | CA350340594 | BMPR2 | c.824A>T (p.Tyr275Phe) c.755A>T (p.Tyr252Phe) | |
2 | g.202519025T>A | CA350340596 | BMPR2 | c.825T>A (p.Tyr275Ter) c.756T>A (p.Tyr252Ter) | |
2 | g.202519025T>C | CA430839759 | BMPR2 | c.825T>C (p.Tyr275=) c.756T>C (p.Tyr252=) | |
2 | g.202519025T>G | CA350340597 | BMPR2 | c.825T>G (p.Tyr275Ter) c.756T>G (p.Tyr252Ter) | |
2 | g.202519026T>A | CA350340598 | BMPR2 | c.826T>A (p.Leu276Met) c.757T>A (p.Leu253Met) | |
2 | g.202519026T>C | CA430839760 | BMPR2 | c.826T>C (p.Leu276=) c.757T>C (p.Leu253=) | |
2 | g.202519026T>G | CA350340599 | BMPR2 | c.826T>G (p.Leu276Val) c.757T>G (p.Leu253Val) | |
2 | g.202519027T>A | CA350340600 | BMPR2 | c.827T>A (p.Leu276Ter) c.758T>A (p.Leu253Ter) | |
2 | g.202519027T>C | CA350340601 | BMPR2 | c.827T>C (p.Leu276Ser) c.758T>C (p.Leu253Ser) | |
2 | g.202519027T>G | CA350340602 | BMPR2 | c.827T>G (p.Leu276Trp) c.758T>G (p.Leu253Trp) | |
2 | g.202519028G>A | CA430839761 | BMPR2 | c.828G>A (p.Leu276=) c.759G>A (p.Leu253=) | |
2 | g.202519028G>C | CA350340604 | BMPR2 | c.828G>C (p.Leu276Phe) c.759G>C (p.Leu253Phe) | |
2 | g.202519028G>T | CA350340603 | BMPR2 | c.828G>T (p.Leu276Phe) c.759G>T (p.Leu253Phe) | |
2 | g.202519029C>A | CA350340605 | BMPR2 | c.829C>A (p.Leu277Ile) c.760C>A (p.Leu254Ile) | |
2 | g.202519029C= | CA1321539743 | BMPR2 | c.829C= (p.Leu277=) c.760C= (p.Leu254=) | |
2 | g.202519029C>G | CA350340606 | BMPR2 | c.829C>G (p.Leu277Val) c.760C>G (p.Leu254Val) | |
2 | g.202519029C>T | CA2061213 | BMPR2 | c.829C>T (p.Leu277Phe) c.760C>T (p.Leu254Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519030T>A | CA350340607 | BMPR2 | c.830T>A (p.Leu277His) c.761T>A (p.Leu254His) | |
2 | g.202519030T>C | CA350340608 | BMPR2 | c.830T>C (p.Leu277Pro) c.761T>C (p.Leu254Pro) | ClinVar dbSNP |
2 | g.202519030T>G | CA350340609 | BMPR2 | c.830T>G (p.Leu277Arg) c.761T>G (p.Leu254Arg) | |
2 | g.202519030T= | CA1321539744 | BMPR2 | c.830T= (p.Leu277=) c.761T= (p.Leu254=) | |
2 | g.202519031T>A | CA430839762 | BMPR2 | c.831T>A (p.Leu277=) c.762T>A (p.Leu254=) | |
2 | g.202519031T>C | CA430839763 | BMPR2 | c.831T>C (p.Leu277=) c.762T>C (p.Leu254=) | |
2 | g.202519031T>G | CA430839764 | BMPR2 | c.831T>G (p.Leu277=) c.762T>G (p.Leu254=) | |
2 | g.202519032G>A | CA350340610 | BMPR2 | c.832G>A (p.Val278Met) c.763G>A (p.Val255Met) | |
2 | g.202519032G>C | CA350340612 | BMPR2 | c.832G>C (p.Val278Leu) c.763G>C (p.Val255Leu) | |
2 | g.202519032G>T | CA350340611 | BMPR2 | c.832G>T (p.Val278Leu) c.763G>T (p.Val255Leu) | |
2 | g.202519033T>A | CA350340613 | BMPR2 | c.833T>A (p.Val278Glu) c.764T>A (p.Val255Glu) | |
2 | g.202519033T>C | CA350340614 | BMPR2 | c.833T>C (p.Val278Ala) c.764T>C (p.Val255Ala) | |
2 | g.202519033T>G | CA350340615 | BMPR2 | c.833T>G (p.Val278Gly) c.764T>G (p.Val255Gly) | |
2 | g.202519034G>A | CA430839765 | BMPR2 | c.834G>A (p.Val278=) c.765G>A (p.Val255=) | |
2 | g.202519034G>C | CA430839766 | BMPR2 | c.834G>C (p.Val278=) c.765G>C (p.Val255=) | |
2 | g.202519034G>T | CA430839767 | BMPR2 | c.834G>T (p.Val278=) c.765G>T (p.Val255=) | |
2 | g.202519034dup | CA2586965538 | BMPR2 | c.834dup (p.Met279AspfsTer19) c.765dup (p.Met256AspfsTer19) | |
2 | g.202519035A>C | CA350340616 | BMPR2 | c.835A>C (p.Met279Leu) c.766A>C (p.Met256Leu) | |
2 | g.202519035A>G | CA350340617 | BMPR2 | c.835A>G (p.Met279Val) c.766A>G (p.Met256Val) | |
2 | g.202519035A>T | CA350340618 | BMPR2 | c.835A>T (p.Met279Leu) c.766A>T (p.Met256Leu) | |
2 | g.202519036T>A | CA350340619 | BMPR2 | c.836T>A (p.Met279Lys) c.767T>A (p.Met256Lys) | |
2 | g.202519036T>C | CA350340620 | BMPR2 | c.836T>C (p.Met279Thr) c.767T>C (p.Met256Thr) | |
2 | g.202519036T>G | CA350340621 | BMPR2 | c.836T>G (p.Met279Arg) c.767T>G (p.Met256Arg) | |
2 | g.202519037G>A | CA350340622 | BMPR2 | c.837G>A (p.Met279Ile) c.768G>A (p.Met256Ile) | gnomAD v4 |
2 | g.202519037G>C | CA350340623 | BMPR2 | c.837G>C (p.Met279Ile) c.768G>C (p.Met256Ile) | |
2 | g.202519037G>T | CA350340624 | BMPR2 | c.837G>T (p.Met279Ile) c.768G>T (p.Met256Ile) | gnomAD v4 |
2 | g.202519038G>A | CA350340625 | BMPR2 | c.838G>A (p.Glu280Lys) c.769G>A (p.Glu257Lys) | |
2 | g.202519038G>C | CA350340627 | BMPR2 | c.838G>C (p.Glu280Gln) c.769G>C (p.Glu257Gln) | |
2 | g.202519038G>T | CA350340626 | BMPR2 | c.838G>T (p.Glu280Ter) c.769G>T (p.Glu257Ter) | |
2 | g.202519039A>C | CA350340628 | BMPR2 | c.839A>C (p.Glu280Ala) c.770A>C (p.Glu257Ala) | |
2 | g.202519039A>G | CA350340629 | BMPR2 | c.839A>G (p.Glu280Gly) c.770A>G (p.Glu257Gly) | |
2 | g.202519039A>T | CA350340630 | BMPR2 | c.839A>T (p.Glu280Val) c.770A>T (p.Glu257Val) | |
2 | g.202519040G>A | CA430839768 | BMPR2 | c.840G>A (p.Glu280=) c.771G>A (p.Glu257=) | gnomAD v4 |
2 | g.202519040G>C | CA350340631 | BMPR2 | c.840G>C (p.Glu280Asp) c.771G>C (p.Glu257Asp) | |
2 | g.202519040G>T | CA350340632 | BMPR2 | c.840G>T (p.Glu280Asp) c.771G>T (p.Glu257Asp) | |
2 | g.202519041T>A | CA350340633 | BMPR2 | c.841T>A (p.Tyr281Asn) c.772T>A (p.Tyr258Asn) | |
2 | g.202519041T>C | CA350340634 | BMPR2 | c.841T>C (p.Tyr281His) c.772T>C (p.Tyr258His) | gnomAD v4 |
2 | g.202519041T>G | CA350340635 | BMPR2 | c.841T>G (p.Tyr281Asp) c.772T>G (p.Tyr258Asp) | |
2 | g.202519042A= | CA1321539745 | BMPR2 | c.842A= (p.Tyr281=) c.773A= (p.Tyr258=) | |
2 | g.202519042A>C | CA350340636 | BMPR2 | c.842A>C (p.Tyr281Ser) c.773A>C (p.Tyr258Ser) | dbSNP |
2 | g.202519042A>G | CA350340637 | BMPR2 | c.842A>G (p.Tyr281Cys) c.773A>G (p.Tyr258Cys) | gnomAD v4 |
2 | g.202519042A>T | CA350340638 | BMPR2 | c.842A>T (p.Tyr281Phe) c.773A>T (p.Tyr258Phe) | |
2 | g.202519043C>A | CA350340639 | BMPR2 | c.843C>A (p.Tyr281Ter) c.774C>A (p.Tyr258Ter) | |
2 | g.202519043C= | CA1321539746 | BMPR2 | c.843C= (p.Tyr281=) c.774C= (p.Tyr258=) | |
2 | g.202519043C>G | CA350340640 | BMPR2 | c.843C>G (p.Tyr281Ter) c.774C>G (p.Tyr258Ter) | ClinVar dbSNP |
2 | g.202519043C>T | CA430839770 | BMPR2 | c.843C>T (p.Tyr281=) c.774C>T (p.Tyr258=) | |
2 | g.202519044T>A | CA350340643 | BMPR2 | c.844T>A (p.Tyr282Asn) c.775T>A (p.Tyr259Asn) | |
2 | g.202519044T>C | CA350340641 | BMPR2 | c.844T>C (p.Tyr282His) c.775T>C (p.Tyr259His) | |
2 | g.202519044T>G | CA350340642 | BMPR2 | c.844T>G (p.Tyr282Asp) c.775T>G (p.Tyr259Asp) | |
2 | g.202519045A>C | CA350340644 | BMPR2 | c.845A>C (p.Tyr282Ser) c.776A>C (p.Tyr259Ser) | |
2 | g.202519045A>G | CA350340645 | BMPR2 | c.845A>G (p.Tyr282Cys) c.776A>G (p.Tyr259Cys) | |
2 | g.202519045A>T | CA350340646 | BMPR2 | c.845A>T (p.Tyr282Phe) c.776A>T (p.Tyr259Phe) | |
2 | g.202519046T>A | CA350340647 | BMPR2 | c.846T>A (p.Tyr282Ter) c.777T>A (p.Tyr259Ter) | ClinVar dbSNP COSMIC |
2 | g.202519046T>C | CA430839771 | BMPR2 | c.846T>C (p.Tyr282=) c.777T>C (p.Tyr259=) | |
2 | g.202519046T>G | CA324555 | BMPR2 | c.846T>G (p.Tyr282Ter) c.777T>G (p.Tyr259Ter) | ClinVar dbSNP |
2 | g.202519046T= | CA1321539747 | BMPR2 | c.846T= (p.Tyr282=) c.777T= (p.Tyr259=) | |
2 | g.202519047C>A | CA350340648 | BMPR2 | c.847C>A (p.Pro283Thr) c.778C>A (p.Pro260Thr) | COSMIC |
2 | g.202519047C= | CA1321539748 | BMPR2 | c.847C= (p.Pro283=) c.778C= (p.Pro260=) | |
2 | g.202519047C>G | CA350340649 | BMPR2 | c.847C>G (p.Pro283Ala) c.778C>G (p.Pro260Ala) | |
2 | g.202519047C>T | CA2061214 | BMPR2 | c.847C>T (p.Pro283Ser) c.778C>T (p.Pro260Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519048C>A | CA350340650 | BMPR2 | c.848C>A (p.Pro283His) c.779C>A (p.Pro260His) | gnomAD v4 |
2 | g.202519048C= | CA1321539749 | BMPR2 | c.848C= (p.Pro283=) c.779C= (p.Pro260=) | |
2 | g.202519048C>G | CA350340651 | BMPR2 | c.848C>G (p.Pro283Arg) c.779C>G (p.Pro260Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519048C>T | CA350340652 | BMPR2 | c.848C>T (p.Pro283Leu) c.779C>T (p.Pro260Leu) | |
2 | g.202519048_202519049insATA | CA2586965539 | BMPR2 | c.848_849insATA (p.Pro283_Asn284insTyr) c.779_780insATA (p.Pro260_Asn261insTyr) | |
2 | g.202519049C>A | CA430839772 | BMPR2 | c.849C>A (p.Pro283=) c.780C>A (p.Pro260=) | |
2 | g.202519049C= | CA1321539750 | BMPR2 | c.849C= (p.Pro283=) c.780C= (p.Pro260=) | |
2 | g.202519049C>G | CA430839773 | BMPR2 | c.849C>G (p.Pro283=) c.780C>G (p.Pro260=) | |
2 | g.202519049C>T | CA430839774 | BMPR2 | c.849C>T (p.Pro283=) c.780C>T (p.Pro260=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519050A>C | CA350340653 | BMPR2 | c.850A>C (p.Asn284His) c.781A>C (p.Asn261His) | |
2 | g.202519050A>G | CA350340655 | BMPR2 | c.850A>G (p.Asn284Asp) c.781A>G (p.Asn261Asp) | |
2 | g.202519050A>T | CA350340654 | BMPR2 | c.850A>T (p.Asn284Tyr) c.781A>T (p.Asn261Tyr) | |
2 | g.202519051A= | CA1321539751 | BMPR2 | c.851A= (p.Asn284=) c.782A= (p.Asn261=) | |
2 | g.202519051A>C | CA350340656 | BMPR2 | c.851A>C (p.Asn284Thr) c.782A>C (p.Asn261Thr) | |
2 | g.202519051A>G | CA2061215 | BMPR2 | c.851A>G (p.Asn284Ser) c.782A>G (p.Asn261Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519051A>T | CA350340657 | BMPR2 | c.851A>T (p.Asn284Ile) c.782A>T (p.Asn261Ile) | |
2 | g.202519052T>A | CA350340658 | BMPR2 | c.852T>A (p.Asn284Lys) c.783T>A (p.Asn261Lys) | |
2 | g.202519052T>C | CA430839775 | BMPR2 | c.852T>C (p.Asn284=) c.783T>C (p.Asn261=) | dbSNP |
2 | g.202519052T>G | CA350340659 | BMPR2 | c.852T>G (p.Asn284Lys) c.783T>G (p.Asn261Lys) | |
2 | g.202519052T= | CA1321539752 | BMPR2 | c.852T= (p.Asn284=) c.783T= (p.Asn261=) | |
2 | g.202519052_202519053insA | CA915941648 | BMPR2 | c.852_852+1insA (n.852_852+1insA) c.783_783+1insA (n.783_783+1insA) | ClinVar dbSNP |
2 | g.202519053G>A | CA350340660 | BMPR2 | c.852+1G>A (n.852+1G>A) c.783+1G>A (n.783+1G>A) | ClinVar dbSNP |
2 | g.202519053G>C | CA350340661 | BMPR2 | c.852+1G>C (n.852+1G>C) c.783+1G>C (n.783+1G>C) | ClinVar dbSNP |
2 | g.202519053G= | CA1321539753 | BMPR2 | c.852+1G= (n.852+1G=) c.783+1G= (n.783+1G=) | |
2 | g.202519053G>T | CA350340662 | BMPR2 | c.852+1G>T (n.852+1G>T) c.783+1G>T (n.783+1G>T) | |
2 | g.202519054T>A | CA350340663 | BMPR2 | c.852+2T>A (n.852+2T>A) c.783+2T>A (n.783+2T>A) | |
2 | g.202519054T>C | CA350340664 | BMPR2 | c.852+2T>C (n.852+2T>C) c.783+2T>C (n.783+2T>C) | |
2 | g.202519054T>G | CA350340665 | BMPR2 | c.852+2T>G (n.852+2T>G) c.783+2T>G (n.783+2T>G) | |
2 | g.202519055A>C | CA2586965541 | BMPR2 | c.852+3A>C (n.852+3A>C) c.783+3A>C (n.783+3A>C) | |
2 | g.202519056A= | CA1321539754 | BMPR2 | c.852+4A= (n.852+4A=) c.783+4A= (n.783+4A=) | |
2 | g.202519056A>G | CA538972598 | BMPR2 | c.852+4A>G (n.852+4A>G) c.783+4A>G (n.783+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519060C= | CA1321539755 | BMPR2 | c.852+8C= (n.852+8C=) c.783+8C= (n.783+8C=) | |
2 | g.202519060C>G | CA1321539756 | BMPR2 | c.852+8C>G (n.852+8C>G) c.783+8C>G (n.783+8C>G) | dbSNP |
2 | g.202519064A= | CA1321539757 | BMPR2 | c.852+12A= (n.852+12A=) c.783+12A= (n.783+12A=) | |
2 | g.202519064A>G | CA1321539758 | BMPR2 | c.852+12A>G (n.852+12A>G) c.783+12A>G (n.783+12A>G) | dbSNP gnomAD v4 |
2 | g.202519065T>C | CA2577215592 | BMPR2 | c.852+13T>C (n.852+13T>C) c.783+13T>C (n.783+13T>C) | gnomAD v4 |
2 | g.202519065T>G | CA2662705632 | BMPR2 | c.852+13T>G (n.852+13T>G) c.783+13T>G (n.783+13T>G) | gnomAD v4 |
2 | g.202519067G>A | CA763426625 | BMPR2 | c.852+15G>A (n.852+15G>A) c.783+15G>A (n.783+15G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519067G= | CA1321539759 | BMPR2 | c.852+15G= (n.852+15G=) c.783+15G= (n.783+15G=) | |
2 | g.202519068A>G | CA2662705633 | BMPR2 | c.852+16A>G (n.852+16A>G) c.783+16A>G (n.783+16A>G) | gnomAD v4 |
2 | g.202519070A= | CA1321539760 | BMPR2 | c.852+18A= (n.852+18A=) c.783+18A= (n.783+18A=) | |
2 | g.202519070A>G | CA2061216 | BMPR2 | c.852+18A>G (n.852+18A>G) c.783+18A>G (n.783+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519071A>G | CA2662705634 | BMPR2 | c.852+19A>G (n.852+19A>G) c.783+19A>G (n.783+19A>G) | gnomAD v4 |
2 | g.202519074_202519075del | CA2662705635 | BMPR2 | c.852+22_852+23del (n.852+22_852+23del) c.783+22_783+23del (n.783+22_783+23del) | gnomAD v4 |
2 | g.202519076C>A | CA2662705636 | BMPR2 | c.852+24C>A (n.852+24C>A) c.783+24C>A (n.783+24C>A) | gnomAD v4 |
2 | g.202519076_202519078delinsCTG | CA1321539761 | BMPR2 | c.852+24_852+26delinsCTG (n.852+24_852+26delinsCTG) c.783+24_783+26delinsCTG (n.783+24_783+26delinsCTG) | |
2 | g.202519077T>C | CA2061218 | BMPR2 | c.852+25T>C (n.852+25T>C) c.783+25T>C (n.783+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519077T= | CA1321539762 | BMPR2 | c.852+25T= (n.852+25T=) c.783+25T= (n.783+25T=) | |
2 | g.202519077_202519078del | CA2061217 | BMPR2 | c.852+25_852+26del (n.852+25_852+26del) c.783+25_783+26del (n.783+25_783+26del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519078G>A | CA2662705637 | BMPR2 | c.852+26G>A (n.852+26G>A) c.783+26G>A (n.783+26G>A) | gnomAD v4 |
2 | g.202519080G>A | CA2701464044 | BMPR2 | c.852+28G>A (n.852+28G>A) c.783+28G>A (n.783+28G>A) | dbSNP |
2 | g.202519080G>T | CA2662705638 | BMPR2 | c.852+28G>T (n.852+28G>T) c.783+28G>T (n.783+28G>T) | gnomAD v4 |
2 | g.202519083C>A | CA2577215593 | BMPR2 | c.852+31C>A (n.852+31C>A) c.783+31C>A (n.783+31C>A) | |
2 | g.202519084A= | CA1321539763 | BMPR2 | c.852+32A= (n.852+32A=) c.783+32A= (n.783+32A=) | |
2 | g.202519084A>G | CA1041341627 | BMPR2 | c.852+32A>G (n.852+32A>G) c.783+32A>G (n.783+32A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519084A>T | CA538972606 | BMPR2 | c.852+32A>T (n.852+32A>T) c.783+32A>T (n.783+32A>T) | dbSNP gnomAD v2 |
2 | g.202519085G>A | CA2753905651 | BMPR2 | c.852+33G>A (n.852+33G>A) c.783+33G>A (n.783+33G>A) | |
2 | g.202519088G>A | CA2061219 | BMPR2 | c.852+36G>A (n.852+36G>A) c.783+36G>A (n.783+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519088G= | CA1321539764 | BMPR2 | c.852+36G= (n.852+36G=) c.783+36G= (n.783+36G=) | |
2 | g.202519089T>C | CA2662705639 | BMPR2 | c.852+37T>C (n.852+37T>C) c.783+37T>C (n.783+37T>C) | gnomAD v4 |
2 | g.202519091G>C | CA2577215594 | BMPR2 | c.852+39G>C (n.852+39G>C) c.783+39G>C (n.783+39G>C) | |
2 | g.202519093G>A | CA2061220 | BMPR2 | c.852+41G>A (n.852+41G>A) c.783+41G>A (n.783+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202519093G= | CA1321539765 | BMPR2 | c.852+41G= (n.852+41G=) c.783+41G= (n.783+41G=) | |
2 | g.202519094G>T | CA2662705640 | BMPR2 | c.852+42G>T (n.852+42G>T) c.783+42G>T (n.783+42G>T) | gnomAD v4 |
2 | g.202519095C>T | CA2577215595 | BMPR2 | c.852+43C>T (n.852+43C>T) c.783+43C>T (n.783+43C>T) | |
2 | g.202519095_202519096delinsCT | CA1321539766 | BMPR2 | c.852+43_852+44delinsCT (n.852+43_852+44delinsCT) c.783+43_783+44delinsCT (n.783+43_783+44delinsCT) | |
2 | g.202519097del | CA538972610 | BMPR2 | c.852+45del (n.852+45del) c.783+45del (n.783+45del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519096_202519098delinsTTA | CA1321539767 | BMPR2 | c.852+44_852+46delinsTTA (n.852+44_852+46delinsTTA) c.783+44_783+46delinsTTA (n.783+44_783+46delinsTTA) | |
2 | g.202519097T>C | CA1321539769 | BMPR2 | c.852+45T>C (n.852+45T>C) c.783+45T>C (n.783+45T>C) | dbSNP gnomAD v4 |
2 | g.202519097T= | CA1321539768 | BMPR2 | c.852+45T= (n.852+45T=) c.783+45T= (n.783+45T=) | |
2 | g.202519098_202519099del | CA538972613 | BMPR2 | c.852+46_852+47del (n.852+46_852+47del) c.783+46_783+47del (n.783+46_783+47del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202519098A= | CA1321539770 | BMPR2 | c.852+46A= (n.852+46A=) c.783+46A= (n.783+46A=) | |
2 | g.202519098A>T | CA1041341630 | BMPR2 | c.852+46A>T (n.852+46A>T) c.783+46A>T (n.783+46A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519099T>C | CA2577215596 | BMPR2 | c.852+47T>C (n.852+47T>C) c.783+47T>C (n.783+47T>C) | gnomAD v4 |
2 | g.202519099T>G | CA1041341632 | BMPR2 | c.852+47T>G (n.852+47T>G) c.783+47T>G (n.783+47T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519099T= | CA1321539771 | BMPR2 | c.852+47T= (n.852+47T=) c.783+47T= (n.783+47T=) | |
2 | g.202519100G>A | CA2061221 | BMPR2 | c.852+48G>A (n.852+48G>A) c.783+48G>A (n.783+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519100G>C | CA1041341635 | BMPR2 | c.852+48G>C (n.852+48G>C) c.783+48G>C (n.783+48G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202519100G= | CA1321539772 | BMPR2 | c.852+48G= (n.852+48G=) c.783+48G= (n.783+48G=) | |
2 | g.202519101C>A | CA2577215597 | BMPR2 | c.852+49C>A (n.852+49C>A) c.783+49C>A (n.783+49C>A) | |
2 | g.202519101_202519102insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG | CA2753905652 | BMPR2 | c.852+49_852+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG (n.852+49_852+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG) c.783+49_783+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG (n.783+49_783+50insAGGCATGAGCCACCACACCCAGCCTAGAATGGTTTTCTTTAGCAATTTTAGTTCCACTGCACAGTG) | |
2 | g.202519102C>A | CA2662705641 | BMPR2 | c.852+50C>A (n.852+50C>A) c.783+50C>A (n.783+50C>A) | gnomAD v4 |
2 | g.202519102C= | CA1321539773 | BMPR2 | c.852+50C= (n.852+50C=) c.783+50C= (n.783+50C=) | |
2 | g.202519102C>G | CA2061222 | BMPR2 | c.852+50C>G (n.852+50C>G) c.783+50C>G (n.783+50C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202519102C>T | CA538972627 | BMPR2 | c.852+50C>T (n.852+50C>T) c.783+50C>T (n.783+50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |