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.202518939del | CA2662705631 | BMPR2 | c.739del (p.Tyr247ThrfsTer5) c.670del (p.Tyr224ThrfsTer5) | gnomAD v4 |
2 | g.202518938T>A | CA430839564 | BMPR2 | c.738T>A (p.Ile246=) c.669T>A (p.Ile223=) | |
2 | g.202518938T>C | CA430839566 | BMPR2 | c.738T>C (p.Ile246=) c.669T>C (p.Ile223=) | |
2 | g.202518938T>G | CA350340402 | BMPR2 | c.738T>G (p.Ile246Met) c.669T>G (p.Ile223Met) | |
2 | g.202518939T>A | CA350340403 | BMPR2 | c.739T>A (p.Tyr247Asn) c.670T>A (p.Tyr224Asn) | |
2 | g.202518939T>C | CA350340404 | BMPR2 | c.739T>C (p.Tyr247His) c.670T>C (p.Tyr224His) | |
2 | g.202518939T>G | CA350340405 | BMPR2 | c.739T>G (p.Tyr247Asp) c.670T>G (p.Tyr224Asp) | |
2 | g.202518940A>C | CA350340406 | BMPR2 | c.740A>C (p.Tyr247Ser) c.671A>C (p.Tyr224Ser) | |
2 | g.202518940A>G | CA350340407 | BMPR2 | c.740A>G (p.Tyr247Cys) c.671A>G (p.Tyr224Cys) | |
2 | g.202518940A>T | CA350340408 | BMPR2 | c.740A>T (p.Tyr247Phe) c.671A>T (p.Tyr224Phe) | |
2 | g.202518941C>A | CA350340410 | BMPR2 | c.741C>A (p.Tyr247Ter) c.672C>A (p.Tyr224Ter) | |
2 | g.202518941C= | CA1321539700 | BMPR2 | c.741C= (p.Tyr247=) c.672C= (p.Tyr224=) | |
2 | g.202518941C>G | CA350340409 | BMPR2 | c.741C>G (p.Tyr247Ter) c.672C>G (p.Tyr224Ter) | |
2 | g.202518941C>T | CA430839583 | BMPR2 | c.741C>T (p.Tyr247=) c.672C>T (p.Tyr224=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518942A>C | CA430839585 | BMPR2 | c.742A>C (p.Arg248=) c.673A>C (p.Arg225=) | |
2 | g.202518942A>G | CA350340411 | BMPR2 | c.742A>G (p.Arg248Gly) c.673A>G (p.Arg225Gly) | |
2 | g.202518942A>T | CA350340412 | BMPR2 | c.742A>T (p.Arg248Ter) c.673A>T (p.Arg225Ter) | |
2 | g.202518943G>A | CA350340413 | BMPR2 | c.743G>A (p.Arg248Lys) c.674G>A (p.Arg225Lys) | |
2 | g.202518943G>C | CA350340414 | BMPR2 | c.743G>C (p.Arg248Thr) c.674G>C (p.Arg225Thr) | |
2 | g.202518943G>T | CA350340415 | BMPR2 | c.743G>T (p.Arg248Ile) c.674G>T (p.Arg225Ile) | |
2 | g.202518944A>C | CA350340416 | BMPR2 | c.744A>C (p.Arg248Ser) c.675A>C (p.Arg225Ser) | |
2 | g.202518944A>G | CA430839598 | BMPR2 | c.744A>G (p.Arg248=) c.675A>G (p.Arg225=) | |
2 | g.202518944A>T | CA350340417 | BMPR2 | c.744A>T (p.Arg248Ser) c.675A>T (p.Arg225Ser) | COSMIC |
2 | g.202518945G>A | CA350340418 | BMPR2 | c.745G>A (p.Val249Met) c.676G>A (p.Val226Met) | |
2 | g.202518945G>C | CA350340419 | BMPR2 | c.745G>C (p.Val249Leu) c.676G>C (p.Val226Leu) | |
2 | g.202518945G>T | CA350340420 | BMPR2 | c.745G>T (p.Val249Leu) c.676G>T (p.Val226Leu) | |
2 | g.202518946T>A | CA350340421 | BMPR2 | c.746T>A (p.Val249Glu) c.677T>A (p.Val226Glu) | |
2 | g.202518946T>C | CA350340422 | BMPR2 | c.746T>C (p.Val249Ala) c.677T>C (p.Val226Ala) | gnomAD v4 |
2 | g.202518946T>G | CA350340423 | BMPR2 | c.746T>G (p.Val249Gly) c.677T>G (p.Val226Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518946T= | CA1321539701 | BMPR2 | c.746T= (p.Val249=) c.677T= (p.Val226=) | |
2 | g.202518947G>A | CA430839606 | BMPR2 | c.747G>A (p.Val249=) c.678G>A (p.Val226=) | gnomAD v4 |
2 | g.202518947G>C | CA430839608 | BMPR2 | c.747G>C (p.Val249=) c.678G>C (p.Val226=) | |
2 | g.202518947G= | CA1321539702 | BMPR2 | c.747G= (p.Val249=) c.678G= (p.Val226=) | |
2 | g.202518947G>T | CA430839610 | BMPR2 | c.747G>T (p.Val249=) c.678G>T (p.Val226=) | dbSNP gnomAD v4 |
2 | g.202518948C>A | CA350340424 | BMPR2 | c.748C>A (p.Pro250Thr) c.679C>A (p.Pro227Thr) | |
2 | g.202518948C= | CA1321539703 | BMPR2 | c.748C= (p.Pro250=) c.679C= (p.Pro227=) | |
2 | g.202518948C>G | CA2061198 | BMPR2 | c.748C>G (p.Pro250Ala) c.679C>G (p.Pro227Ala) | dbSNP ExAC gnomAD v2 |
2 | g.202518948C>T | CA64015793 | BMPR2 | c.748C>T (p.Pro250Ser) c.679C>T (p.Pro227Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518949_202518965dup | CA2586965532 | BMPR2 | c.749_765dup (p.Asn256LeufsTer2) c.680_696dup (p.Asn233LeufsTer2) | |
2 | g.202518948_202518949insTACAG | CA2701463985 | BMPR2 | c.748_749insTACAG (p.Pro250LeufsTer4) c.679_680insTACAG (p.Pro227LeufsTer4) | dbSNP |
2 | g.202518949C>A | CA350340425 | BMPR2 | c.749C>A (p.Pro250His) c.680C>A (p.Pro227His) | |
2 | g.202518949C= | CA1321539705 | BMPR2 | c.749C= (p.Pro250=) c.680C= (p.Pro227=) | |
2 | g.202518949C>G | CA350340426 | BMPR2 | c.749C>G (p.Pro250Arg) c.680C>G (p.Pro227Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518949C>T | CA350340427 | BMPR2 | c.749C>T (p.Pro250Leu) c.680C>T (p.Pro227Leu) | |
2 | g.202518949_202518950delinsCT | CA1321539704 | BMPR2 | c.749_750delinsCT (p.Pro250=) c.680_681delinsCT (p.Pro227=) | |
2 | g.202518950T>A | CA430839622 | BMPR2 | c.750T>A (p.Pro250=) c.681T>A (p.Pro227=) | |
2 | g.202518950T>C | CA430839624 | BMPR2 | c.750T>C (p.Pro250=) c.681T>C (p.Pro227=) | |
2 | g.202518950T>G | CA430839620 | BMPR2 | c.750T>G (p.Pro250=) c.681T>G (p.Pro227=) | |
2 | g.202518952del | CA538972569 | BMPR2 | c.752del (p.Leu251Ter) c.683del (p.Leu228Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518950_202518951insCTCTG | CA2701464024 | BMPR2 | c.750_751insCTCTG (p.Met252CysfsTer2) c.681_682insCTCTG (p.Met229CysfsTer2) | dbSNP |
2 | g.202518950_202518951insCTCTGTTGCTTACAGTTTATTCCA | CA2701464029 | BMPR2 | c.750_751insCTCTGTTGCTTACAGTTTATTCCA (p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro) c.681_682insCTCTGTTGCTTACAGTTTATTCCA (p.Pro227_Leu228insLeuCysCysLeuGlnPheIlePro) | dbSNP |
2 | g.202518951T>A | CA350340428 | BMPR2 | c.751T>A (p.Leu251Met) c.682T>A (p.Leu228Met) | |
2 | g.202518951T>C | CA430839627 | BMPR2 | c.751T>C (p.Leu251=) c.682T>C (p.Leu228=) | dbSNP |
2 | g.202518951T>G | CA350340429 | BMPR2 | c.751T>G (p.Leu251Val) c.682T>G (p.Leu228Val) | |
2 | g.202518951T= | CA1321539706 | BMPR2 | c.751T= (p.Leu251=) c.682T= (p.Leu228=) | |
2 | g.202518952T>A | CA350340430 | BMPR2 | c.752T>A (p.Leu251Ter) c.683T>A (p.Leu228Ter) | |
2 | g.202518952T>C | CA350340431 | BMPR2 | c.752T>C (p.Leu251Ser) c.683T>C (p.Leu228Ser) | dbSNP |
2 | g.202518952T>G | CA350340432 | BMPR2 | c.752T>G (p.Leu251Trp) c.683T>G (p.Leu228Trp) | |
2 | g.202518953G>A | CA430839634 | BMPR2 | c.753G>A (p.Leu251=) c.684G>A (p.Leu228=) | ClinVar dbSNP gnomAD v4 |
2 | g.202518953G>C | CA350340433 | BMPR2 | c.753G>C (p.Leu251Phe) c.684G>C (p.Leu228Phe) | |
2 | g.202518953G= | CA1321539707 | BMPR2 | c.753G= (p.Leu251=) c.684G= (p.Leu228=) | |
2 | g.202518953G>T | CA350340434 | BMPR2 | c.753G>T (p.Leu251Phe) c.684G>T (p.Leu228Phe) | |
2 | g.202518954A>C | CA350340435 | BMPR2 | c.754A>C (p.Met252Leu) c.685A>C (p.Met229Leu) | |
2 | g.202518954A>G | CA350340436 | BMPR2 | c.754A>G (p.Met252Val) c.685A>G (p.Met229Val) | |
2 | g.202518954A>T | CA350340437 | BMPR2 | c.754A>T (p.Met252Leu) c.685A>T (p.Met229Leu) | |
2 | g.202518955T>A | CA350340440 | BMPR2 | c.755T>A (p.Met252Lys) c.686T>A (p.Met229Lys) | |
2 | g.202518955T>C | CA350340439 | BMPR2 | c.755T>C (p.Met252Thr) c.686T>C (p.Met229Thr) | gnomAD v4 |
2 | g.202518955T>G | CA350340438 | BMPR2 | c.755T>G (p.Met252Arg) c.686T>G (p.Met229Arg) | |
2 | g.202518956G>A | CA350340443 | BMPR2 | c.756G>A (p.Met252Ile) c.687G>A (p.Met229Ile) | |
2 | g.202518956G>C | CA350340441 | BMPR2 | c.756G>C (p.Met252Ile) c.687G>C (p.Met229Ile) | |
2 | g.202518956G>T | CA350340442 | BMPR2 | c.756G>T (p.Met252Ile) c.687G>T (p.Met229Ile) | |
2 | g.202518957G>A | CA350340444 | BMPR2 | c.757G>A (p.Glu253Lys) c.688G>A (p.Glu230Lys) | |
2 | g.202518957G>C | CA350340445 | BMPR2 | c.757G>C (p.Glu253Gln) c.688G>C (p.Glu230Gln) | COSMIC |
2 | g.202518957G>T | CA350340446 | BMPR2 | c.757G>T (p.Glu253Ter) c.688G>T (p.Glu230Ter) | |
2 | g.202518958A>C | CA350340447 | BMPR2 | c.758A>C (p.Glu253Ala) c.689A>C (p.Glu230Ala) | |
2 | g.202518958A>G | CA350340448 | BMPR2 | c.758A>G (p.Glu253Gly) c.689A>G (p.Glu230Gly) | |
2 | g.202518958A>T | CA350340449 | BMPR2 | c.758A>T (p.Glu253Val) c.689A>T (p.Glu230Val) | |
2 | g.202518959A>C | CA350340450 | BMPR2 | c.759A>C (p.Glu253Asp) c.690A>C (p.Glu230Asp) | |
2 | g.202518959A>G | CA430839653 | BMPR2 | c.759A>G (p.Glu253=) c.690A>G (p.Glu230=) | |
2 | g.202518959A>T | CA350340451 | BMPR2 | c.759A>T (p.Glu253Asp) c.690A>T (p.Glu230Asp) | |
2 | g.202518960C>A | CA350340452 | BMPR2 | c.760C>A (p.His254Asn) c.691C>A (p.His231Asn) | |
2 | g.202518960C= | CA1321539708 | BMPR2 | c.760C= (p.His254=) c.691C= (p.His231=) | |
2 | g.202518960C>G | CA64015800 | BMPR2 | c.760C>G (p.His254Asp) c.691C>G (p.His231Asp) | dbSNP |
2 | g.202518960C>T | CA350340453 | BMPR2 | c.760C>T (p.His254Tyr) c.691C>T (p.His231Tyr) | |
2 | g.202518960_202518962delinsCAT | CA1321539709 | BMPR2 | c.760_762delinsCAT (p.His254=) c.691_693delinsCAT (p.His231=) | |
2 | g.202518961A= | CA1321539710 | BMPR2 | c.761A= (p.His254=) c.692A= (p.His231=) | |
2 | g.202518961A>C | CA350340455 | BMPR2 | c.761A>C (p.His254Pro) c.692A>C (p.His231Pro) | |
2 | g.202518961A>G | CA2061199 | BMPR2 | c.761A>G (p.His254Arg) c.692A>G (p.His231Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518961A>T | CA350340454 | BMPR2 | c.761A>T (p.His254Leu) c.692A>T (p.His231Leu) | |
2 | g.202518961_202518962del | CA915941646 | BMPR2 | c.761_762del (p.His254ArgfsTer11) c.692_693del (p.His231ArgfsTer11) | ClinVar dbSNP |
2 | g.202518962T>A | CA350340456 | BMPR2 | c.762T>A (p.His254Gln) c.693T>A (p.His231Gln) | |
2 | g.202518962T>C | CA430839666 | BMPR2 | c.762T>C (p.His254=) c.693T>C (p.His231=) | |
2 | g.202518962T>G | CA350340457 | BMPR2 | c.762T>G (p.His254Gln) c.693T>G (p.His231Gln) | gnomAD v4 |
2 | g.202518963G>A | CA2061200 | BMPR2 | c.763G>A (p.Asp255Asn) c.694G>A (p.Asp232Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518963G>C | CA350340458 | BMPR2 | c.763G>C (p.Asp255His) c.694G>C (p.Asp232His) | |
2 | g.202518963G= | CA1321539711 | BMPR2 | c.763G= (p.Asp255=) c.694G= (p.Asp232=) | |
2 | g.202518963G>T | CA350340459 | BMPR2 | c.763G>T (p.Asp255Tyr) c.694G>T (p.Asp232Tyr) | |
2 | g.202518964A>C | CA350340460 | BMPR2 | c.764A>C (p.Asp255Ala) c.695A>C (p.Asp232Ala) | |
2 | g.202518964A>G | CA350340461 | BMPR2 | c.764A>G (p.Asp255Gly) c.695A>G (p.Asp232Gly) | |
2 | g.202518964A>T | CA350340462 | BMPR2 | c.764A>T (p.Asp255Val) c.695A>T (p.Asp232Val) | |
2 | g.202518965C>A | CA350340463 | BMPR2 | c.765C>A (p.Asp255Glu) c.696C>A (p.Asp232Glu) | |
2 | g.202518965C= | CA1321539712 | BMPR2 | c.765C= (p.Asp255=) c.696C= (p.Asp232=) | |
2 | g.202518965C>G | CA350340464 | BMPR2 | c.765C>G (p.Asp255Glu) c.696C>G (p.Asp232Glu) | |
2 | g.202518965C>T | CA430839683 | BMPR2 | c.765C>T (p.Asp255=) c.696C>T (p.Asp232=) | dbSNP |
2 | g.202518966A>C | CA350340465 | BMPR2 | c.766A>C (p.Asn256His) c.697A>C (p.Asn233His) | |
2 | g.202518966A>G | CA350340466 | BMPR2 | c.766A>G (p.Asn256Asp) c.697A>G (p.Asn233Asp) | |
2 | g.202518966A>T | CA350340467 | BMPR2 | c.766A>T (p.Asn256Tyr) c.697A>T (p.Asn233Tyr) | |
2 | g.202518967A>C | CA350340469 | BMPR2 | c.767A>C (p.Asn256Thr) c.698A>C (p.Asn233Thr) | |
2 | g.202518967A>G | CA350340470 | BMPR2 | c.767A>G (p.Asn256Ser) c.698A>G (p.Asn233Ser) | gnomAD v4 |
2 | g.202518967A>T | CA350340468 | BMPR2 | c.767A>T (p.Asn256Ile) c.698A>T (p.Asn233Ile) | |
2 | g.202518968C>A | CA350340471 | BMPR2 | c.768C>A (p.Asn256Lys) c.699C>A (p.Asn233Lys) | |
2 | g.202518968C>G | CA350340472 | BMPR2 | c.768C>G (p.Asn256Lys) c.699C>G (p.Asn233Lys) | |
2 | g.202518968C>T | CA430839700 | BMPR2 | c.768C>T (p.Asn256=) c.699C>T (p.Asn233=) | |
2 | g.202518969A= | CA1321539713 | BMPR2 | c.769A= (p.Ile257=) c.700A= (p.Ile234=) | |
2 | g.202518969A>C | CA350340473 | BMPR2 | c.769A>C (p.Ile257Leu) c.700A>C (p.Ile234Leu) | |
2 | g.202518969A>G | CA350340475 | BMPR2 | c.769A>G (p.Ile257Val) c.700A>G (p.Ile234Val) | dbSNP gnomAD v4 |
2 | g.202518969A>T | CA350340474 | BMPR2 | c.769A>T (p.Ile257Phe) c.700A>T (p.Ile234Phe) | |
2 | g.202518970T>A | CA350340476 | BMPR2 | c.770T>A (p.Ile257Asn) c.701T>A (p.Ile234Asn) | |
2 | g.202518970T>C | CA2061201 | BMPR2 | c.770T>C (p.Ile257Thr) c.701T>C (p.Ile234Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518970T>G | CA350340477 | BMPR2 | c.770T>G (p.Ile257Ser) c.701T>G (p.Ile234Ser) | |
2 | g.202518970T= | CA1321539714 | BMPR2 | c.770T= (p.Ile257=) c.701T= (p.Ile234=) | |
2 | g.202518971T>A | CA430839714 | BMPR2 | c.771T>A (p.Ile257=) c.702T>A (p.Ile234=) | |
2 | g.202518971T>C | CA430839716 | BMPR2 | c.771T>C (p.Ile257=) c.702T>C (p.Ile234=) | ClinVar dbSNP |
2 | g.202518971T>G | CA350340478 | BMPR2 | c.771T>G (p.Ile257Met) c.702T>G (p.Ile234Met) | |
2 | g.202518972G>A | CA350340479 | BMPR2 | c.772G>A (p.Ala258Thr) c.703G>A (p.Ala235Thr) | |
2 | g.202518972G>C | CA350340480 | BMPR2 | c.772G>C (p.Ala258Pro) c.703G>C (p.Ala235Pro) | |
2 | g.202518972G>T | CA350340481 | BMPR2 | c.772G>T (p.Ala258Ser) c.703G>T (p.Ala235Ser) | |
2 | g.202518972_202518973delinsGC | CA1321539715 | BMPR2 | c.772_773delinsGC (p.Ala258=) c.703_704delinsGC (p.Ala235=) | |
2 | g.202518973C>A | CA350340482 | BMPR2 | c.773C>A (p.Ala258Asp) c.704C>A (p.Ala235Asp) | |
2 | g.202518973C= | CA1321539716 | BMPR2 | c.773C= (p.Ala258=) c.704C= (p.Ala235=) | |
2 | g.202518973C>G | CA350340483 | BMPR2 | c.773C>G (p.Ala258Gly) c.704C>G (p.Ala235Gly) | |
2 | g.202518973C>T | CA350340484 | BMPR2 | c.773C>T (p.Ala258Val) c.704C>T (p.Ala235Val) | dbSNP gnomAD v4 |
2 | g.202518975del | CA645293813 | BMPR2 | c.775del (p.Arg259AlafsTer3) c.706del (p.Arg236AlafsTer3) | ClinVar dbSNP |
2 | g.202518974C>A | CA430839721 | BMPR2 | c.774C>A (p.Ala258=) c.705C>A (p.Ala235=) | dbSNP |
2 | g.202518974C>G | CA430839722 | BMPR2 | c.774C>G (p.Ala258=) c.705C>G (p.Ala235=) | |
2 | g.202518974C>T | CA430839724 | BMPR2 | c.774C>T (p.Ala258=) c.705C>T (p.Ala235=) | |
2 | g.202518975C>A | CA350340486 | BMPR2 | c.775C>A (p.Arg259Ser) c.706C>A (p.Arg236Ser) | |
2 | g.202518975C= | CA1321539717 | BMPR2 | c.775C= (p.Arg259=) c.706C= (p.Arg236=) | |
2 | g.202518975C>G | CA350340485 | BMPR2 | c.775C>G (p.Arg259Gly) c.706C>G (p.Arg236Gly) | |
2 | g.202518975C>T | CA2061202 | BMPR2 | c.775C>T (p.Arg259Cys) c.706C>T (p.Arg236Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518976G>A | CA2061203 | BMPR2 | c.776G>A (p.Arg259His) c.707G>A (p.Arg236His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518976G>C | CA350340487 | BMPR2 | c.776G>C (p.Arg259Pro) c.707G>C (p.Arg236Pro) | |
2 | g.202518976G= | CA1321539718 | BMPR2 | c.776G= (p.Arg259=) c.707G= (p.Arg236=) | |
2 | g.202518976G>T | CA350340488 | BMPR2 | c.776G>T (p.Arg259Leu) c.707G>T (p.Arg236Leu) | |
2 | g.202518977C>A | CA430839727 | BMPR2 | c.777C>A (p.Arg259=) c.708C>A (p.Arg236=) | |
2 | g.202518977C>G | CA430839728 | BMPR2 | c.777C>G (p.Arg259=) c.708C>G (p.Arg236=) | |
2 | g.202518977C>T | CA430839729 | BMPR2 | c.777C>T (p.Arg259=) c.708C>T (p.Arg236=) | |
2 | g.202518978T>A | CA350340489 | BMPR2 | c.778T>A (p.Phe260Ile) c.709T>A (p.Phe237Ile) | |
2 | g.202518978T>C | CA350340490 | BMPR2 | c.778T>C (p.Phe260Leu) c.709T>C (p.Phe237Leu) | |
2 | g.202518978T>G | CA350340491 | BMPR2 | c.778T>G (p.Phe260Val) c.709T>G (p.Phe237Val) | |
2 | g.202518979T>A | CA350340492 | BMPR2 | c.779T>A (p.Phe260Tyr) c.710T>A (p.Phe237Tyr) | |
2 | g.202518979T>C | CA350340493 | BMPR2 | c.779T>C (p.Phe260Ser) c.710T>C (p.Phe237Ser) | |
2 | g.202518979T>G | CA350340494 | BMPR2 | c.779T>G (p.Phe260Cys) c.710T>G (p.Phe237Cys) | |
2 | g.202518979_202518981delinsTTA | CA1321539719 | BMPR2 | c.779_781delinsTTA (p.Phe260=) c.710_712delinsTTA (p.Phe237=) | |
2 | g.202518980T>A | CA350340495 | BMPR2 | c.780T>A (p.Phe260Leu) c.711T>A (p.Phe237Leu) | |
2 | g.202518980T>C | CA430839731 | BMPR2 | c.780T>C (p.Phe260=) c.711T>C (p.Phe237=) | |
2 | g.202518980T>G | CA350340496 | BMPR2 | c.780T>G (p.Phe260Leu) c.711T>G (p.Phe237Leu) | |
2 | g.202518982_202518983del | CA645293814 | BMPR2 | c.782_783del (p.Ile261SerfsTer4) c.713_714del (p.Ile238SerfsTer4) | ClinVar dbSNP |
2 | g.202518981A= | CA1321539720 | BMPR2 | c.781A= (p.Ile261=) c.712A= (p.Ile238=) | |
2 | g.202518981A>C | CA350340498 | BMPR2 | c.781A>C (p.Ile261Leu) c.712A>C (p.Ile238Leu) | |
2 | g.202518981A>G | CA2061204 | BMPR2 | c.781A>G (p.Ile261Val) c.712A>G (p.Ile238Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518981A>T | CA350340497 | BMPR2 | c.781A>T (p.Ile261Leu) c.712A>T (p.Ile238Leu) | |
2 | g.202518982T>A | CA350340499 | BMPR2 | c.782T>A (p.Ile261Lys) c.713T>A (p.Ile238Lys) | |
2 | g.202518982T>C | CA350340500 | BMPR2 | c.782T>C (p.Ile261Thr) c.713T>C (p.Ile238Thr) | dbSNP gnomAD v4 |
2 | g.202518982T>G | CA350340501 | BMPR2 | c.782T>G (p.Ile261Arg) c.713T>G (p.Ile238Arg) | |
2 | g.202518982T= | CA1321539721 | BMPR2 | c.782T= (p.Ile261=) c.713T= (p.Ile238=) | |
2 | g.202518983A>C | CA430839732 | BMPR2 | c.783A>C (p.Ile261=) c.714A>C (p.Ile238=) | |
2 | g.202518983A>G | CA350340502 | BMPR2 | c.783A>G (p.Ile261Met) c.714A>G (p.Ile238Met) | |
2 | g.202518983A>T | CA430839733 | BMPR2 | c.783A>T (p.Ile261=) c.714A>T (p.Ile238=) | |
2 | g.202518984G>A | CA350340505 | BMPR2 | c.784G>A (p.Val262Ile) c.715G>A (p.Val239Ile) | |
2 | g.202518984G>C | CA350340504 | BMPR2 | c.784G>C (p.Val262Leu) c.715G>C (p.Val239Leu) | |
2 | g.202518984G= | CA1321539722 | BMPR2 | c.784G= (p.Val262=) c.715G= (p.Val239=) | |
2 | g.202518984G>T | CA350340503 | BMPR2 | c.784G>T (p.Val262Phe) c.715G>T (p.Val239Phe) | |
2 | g.202518985T>A | CA350340506 | BMPR2 | c.785T>A (p.Val262Asp) c.716T>A (p.Val239Asp) | |
2 | g.202518985T>C | CA2061205 | BMPR2 | c.785T>C (p.Val262Ala) c.716T>C (p.Val239Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518985T>G | CA350340507 | BMPR2 | c.785T>G (p.Val262Gly) c.716T>G (p.Val239Gly) | |
2 | g.202518985T= | CA1321539723 | BMPR2 | c.785T= (p.Val262=) c.716T= (p.Val239=) | |
2 | g.202518986dup | CA645293815 | BMPR2 | c.786dup (p.Gly263TrpfsTer3) c.717dup (p.Gly240TrpfsTer3) | ClinVar dbSNP |
2 | g.202518986T>A | CA430839735 | BMPR2 | c.786T>A (p.Val262=) c.717T>A (p.Val239=) | |
2 | g.202518986T>C | CA430839736 | BMPR2 | c.786T>C (p.Val262=) c.717T>C (p.Val239=) | |
2 | g.202518986T>G | CA430839734 | BMPR2 | c.786T>G (p.Val262=) c.717T>G (p.Val239=) | |
2 | g.202518987G>A | CA350340508 | BMPR2 | c.787G>A (p.Gly263Arg) c.718G>A (p.Gly240Arg) | |
2 | g.202518987G>C | CA350340509 | BMPR2 | c.787G>C (p.Gly263Arg) c.718G>C (p.Gly240Arg) | |
2 | g.202518987G>T | CA350340510 | BMPR2 | c.787G>T (p.Gly263Ter) c.718G>T (p.Gly240Ter) | |
2 | g.202518988G>A | CA350340511 | BMPR2 | c.788G>A (p.Gly263Glu) c.719G>A (p.Gly240Glu) | gnomAD v4 |
2 | g.202518988G>C | CA350340513 | BMPR2 | c.788G>C (p.Gly263Ala) c.719G>C (p.Gly240Ala) | gnomAD v4 |
2 | g.202518988G>T | CA350340512 | BMPR2 | c.788G>T (p.Gly263Val) c.719G>T (p.Gly240Val) | |
2 | g.202518989A>C | CA430839739 | BMPR2 | c.789A>C (p.Gly263=) c.720A>C (p.Gly240=) | |
2 | g.202518989A>G | CA430839737 | BMPR2 | c.789A>G (p.Gly263=) c.720A>G (p.Gly240=) | |
2 | g.202518989A>T | CA430839738 | BMPR2 | c.789A>T (p.Gly263=) c.720A>T (p.Gly240=) | |
2 | g.202518989_202518990delinsAG | CA1321539724 | BMPR2 | c.789_790delinsAG (p.Gly263=) c.720_721delinsAG (p.Gly240=) | |
2 | g.202518990del | CA645293816 | BMPR2 | c.790del (p.Asp264MetfsTer15) c.721del (p.Asp241MetfsTer15) | ClinVar dbSNP |
2 | g.202518990G>A | CA350340514 | BMPR2 | c.790G>A (p.Asp264Asn) c.721G>A (p.Asp241Asn) | |
2 | g.202518990G>C | CA350340515 | BMPR2 | c.790G>C (p.Asp264His) c.721G>C (p.Asp241His) | |
2 | g.202518990G>T | CA350340516 | BMPR2 | c.790G>T (p.Asp264Tyr) c.721G>T (p.Asp241Tyr) | |
2 | g.202518991A>C | CA350340517 | BMPR2 | c.791A>C (p.Asp264Ala) c.722A>C (p.Asp241Ala) | |
2 | g.202518991A>G | CA350340518 | BMPR2 | c.791A>G (p.Asp264Gly) c.722A>G (p.Asp241Gly) | |
2 | g.202518991A>T | CA350340519 | BMPR2 | c.791A>T (p.Asp264Val) c.722A>T (p.Asp241Val) | |
2 | g.202518992T>A | CA350340520 | BMPR2 | c.792T>A (p.Asp264Glu) c.723T>A (p.Asp241Glu) | |
2 | g.202518992T>C | CA2061206 | BMPR2 | c.792T>C (p.Asp264=) c.723T>C (p.Asp241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518992T>G | CA350340521 | BMPR2 | c.792T>G (p.Asp264Glu) c.723T>G (p.Asp241Glu) | |
2 | g.202518992T= | CA1321539725 | BMPR2 | c.792T= (p.Asp264=) c.723T= (p.Asp241=) | |
2 | g.202518992_202518996delinsTGAGA | CA1321539726 | BMPR2 | c.792_796delinsTGAGA (p.Asp264=) c.723_727delinsTGAGA (p.Asp241=) | |
2 | g.202518993G>A | CA350340522 | BMPR2 | c.793G>A (p.Glu265Lys) c.724G>A (p.Glu242Lys) | dbSNP |
2 | g.202518993G>C | CA350340523 | BMPR2 | c.793G>C (p.Glu265Gln) c.724G>C (p.Glu242Gln) | |
2 | g.202518993G= | CA1321539727 | BMPR2 | c.793G= (p.Glu265=) c.724G= (p.Glu242=) | |
2 | g.202518993G>T | CA350340524 | BMPR2 | c.793G>T (p.Glu265Ter) c.724G>T (p.Glu242Ter) | ClinVar dbSNP |
2 | g.202518998_202518999dup | CA2697551481 | BMPR2 | c.798_799dup (p.Val267GlufsTer13) c.729_730dup (p.Val244GlufsTer13) | ClinVar |
2 | g.202518998_202518999del | CA645532630 | BMPR2 | c.798_799del (p.Arg266SerfsTer?) c.729_730del (p.Arg243SerfsTer?) | COSMIC |
2 | g.202518996_202518999del | CA645293817 | BMPR2 | c.796_799del (p.Arg266SerfsTer12) c.727_730del (p.Arg243SerfsTer12) | ClinVar dbSNP |
2 | g.202518994A= | CA1321539728 | BMPR2 | c.794A= (p.Glu265=) c.725A= (p.Glu242=) | |
2 | g.202518994A>C | CA350340526 | BMPR2 | c.794A>C (p.Glu265Ala) c.725A>C (p.Glu242Ala) | |
2 | g.202518994A>G | CA350340527 | BMPR2 | c.794A>G (p.Glu265Gly) c.725A>G (p.Glu242Gly) | ClinVar dbSNP |
2 | g.202518994A>T | CA350340525 | BMPR2 | c.794A>T (p.Glu265Val) c.725A>T (p.Glu242Val) | |
2 | g.202518995G>A | CA430839740 | BMPR2 | c.795G>A (p.Glu265=) c.726G>A (p.Glu242=) | |
2 | g.202518995G>C | CA350340529 | BMPR2 | c.795G>C (p.Glu265Asp) c.726G>C (p.Glu242Asp) | |
2 | g.202518995G>T | CA350340528 | BMPR2 | c.795G>T (p.Glu265Asp) c.726G>T (p.Glu242Asp) | |
2 | g.202518995_202518996delinsGA | CA1321539729 | BMPR2 | c.795_796delinsGA (p.Glu265=) c.726_727delinsGA (p.Glu242=) | |
2 | g.202518995_202518996delinsTT | CA645293818 | BMPR2 | c.795_796delinsTT (p.Glu265AspfsTer2) c.726_727delinsTT (p.Glu242AspfsTer2) | ClinVar dbSNP |
2 | g.202518996A>C | CA430839741 | BMPR2 | c.796A>C (p.Arg266=) c.727A>C (p.Arg243=) | |
2 | g.202518996A>G | CA350340530 | BMPR2 | c.796A>G (p.Arg266Gly) c.727A>G (p.Arg243Gly) | |
2 | g.202518996A>T | CA350340531 | BMPR2 | c.796A>T (p.Arg266Ter) c.727A>T (p.Arg243Ter) | |
2 | g.202518997G>A | CA350340532 | BMPR2 | c.797G>A (p.Arg266Lys) c.728G>A (p.Arg243Lys) | dbSNP |
2 | g.202518997G>C | CA320454 | BMPR2 | c.797G>C (p.Arg266Thr) c.728G>C (p.Arg243Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518997G= | CA1321539730 | BMPR2 | c.797G= (p.Arg266=) c.728G= (p.Arg243=) | |
2 | g.202518997G>T | CA350340533 | BMPR2 | c.797G>T (p.Arg266Ile) c.728G>T (p.Arg243Ile) | |
2 | g.202518998A= | CA1321539731 | BMPR2 | c.798A= (p.Arg266=) c.729A= (p.Arg243=) | |
2 | g.202518998A>C | CA350340534 | BMPR2 | c.798A>C (p.Arg266Ser) c.729A>C (p.Arg243Ser) | |
2 | g.202518998A>G | CA430839742 | BMPR2 | c.798A>G (p.Arg266=) c.729A>G (p.Arg243=) | |
2 | g.202518998A>T | CA2061207 | BMPR2 | c.798A>T (p.Arg266Ser) c.729A>T (p.Arg243Ser) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.202518999G>A | CA2061208 | BMPR2 | c.799G>A (p.Val267Ile) c.730G>A (p.Val244Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.202518999G>C | CA350340535 | BMPR2 | c.799G>C (p.Val267Leu) c.730G>C (p.Val244Leu) | |
2 | g.202518999G= | CA1321539732 | BMPR2 | c.799G= (p.Val267=) c.730G= (p.Val244=) | |
2 | g.202518999G>T | CA350340536 | BMPR2 | c.799G>T (p.Val267Phe) c.730G>T (p.Val244Phe) | |
2 | g.202519000T>A | CA350340539 | BMPR2 | c.800T>A (p.Val267Asp) c.731T>A (p.Val244Asp) | |
2 | g.202519000T>C | CA350340538 | BMPR2 | c.800T>C (p.Val267Ala) c.731T>C (p.Val244Ala) | |
2 | g.202519000T>G | CA350340537 | BMPR2 | c.800T>G (p.Val267Gly) c.731T>G (p.Val244Gly) | |
2 | g.202519001C>A | CA430839743 | BMPR2 | c.801C>A (p.Val267=) c.732C>A (p.Val244=) | |
2 | g.202519001C= | CA1321539733 | BMPR2 | c.801C= (p.Val267=) c.732C= (p.Val244=) | |
2 | g.202519001C>G | CA430839744 | BMPR2 | c.801C>G (p.Val267=) c.732C>G (p.Val244=) | |
2 | g.202519001C>T | CA430839745 | BMPR2 | c.801C>T (p.Val267=) c.732C>T (p.Val244=) | |
2 | g.202519002A>C | CA350340540 | BMPR2 | c.802A>C (p.Thr268Pro) c.733A>C (p.Thr245Pro) | |
2 | g.202519002A>G | CA350340541 | BMPR2 | c.802A>G (p.Thr268Ala) c.733A>G (p.Thr245Ala) | |
2 | g.202519002A>T | CA350340542 | BMPR2 | c.802A>T (p.Thr268Ser) c.733A>T (p.Thr245Ser) | |
2 | g.202519002dup | CA645293819 | BMPR2 | c.802dup (p.Thr268AsnfsTer30) c.733dup (p.Thr245AsnfsTer30) | ClinVar dbSNP |
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) |