Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202519368_202523159delCA915941649BMPR2c.852+316_967+2958del
c.783+316_898+2958del
 ClinVar
2g.202520116C>ACA350340742BMPR2c.882C>A (p.His294Gln)
c.813C>A (p.His271Gln)
2g.202520116C>GCA350340743BMPR2c.882C>G (p.His294Gln)
c.813C>G (p.His271Gln)
2g.202520116C>TCA430840402BMPR2c.882C>T (p.His294=)
c.813C>T (p.His271=)
 dbSNP
2g.202520117A=CA1321540223BMPR2c.883A= (p.Thr295=)
c.814A= (p.Thr272=)
2g.202520117A>CCA64016719BMPR2c.883A>C (p.Thr295Pro)
c.814A>C (p.Thr272Pro)
 dbSNP gnomAD v4
2g.202520117A>GCA350340744BMPR2c.883A>G (p.Thr295Ala)
c.814A>G (p.Thr272Ala)
2g.202520117A>TCA350340745BMPR2c.883A>T (p.Thr295Ser)
c.814A>T (p.Thr272Ser)
2g.202520118C>ACA350340746BMPR2c.884C>A (p.Thr295Lys)
c.815C>A (p.Thr272Lys)
 dbSNP
2g.202520118C=CA1321540224BMPR2c.884C= (p.Thr295=)
c.815C= (p.Thr272=)
2g.202520118C>GCA350340747BMPR2c.884C>G (p.Thr295Arg)
c.815C>G (p.Thr272Arg)
 gnomAD v4
2g.202520118C>TCA2061243BMPR2c.884C>T (p.Thr295Ile)
c.815C>T (p.Thr272Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202520119A>CCA430840406BMPR2c.885A>C (p.Thr295=)
c.816A>C (p.Thr272=)
 gnomAD v4
2g.202520119A>GCA430840407BMPR2c.885A>G (p.Thr295=)
c.816A>G (p.Thr272=)
2g.202520119A>TCA430840408BMPR2c.885A>T (p.Thr295=)
c.816A>T (p.Thr272=)
 gnomAD v4
2g.202520120A>CCA350340750BMPR2c.886A>C (p.Ser296Arg)
c.817A>C (p.Ser273Arg)
2g.202520120A>GCA350340748BMPR2c.886A>G (p.Ser296Gly)
c.817A>G (p.Ser273Gly)
2g.202520120A>TCA350340749BMPR2c.886A>T (p.Ser296Cys)
c.817A>T (p.Ser273Cys)
2g.202520121G>ACA350340751BMPR2c.887G>A (p.Ser296Asn)
c.818G>A (p.Ser273Asn)
 dbSNP gnomAD v4
2g.202520121G>CCA350340752BMPR2c.887G>C (p.Ser296Thr)
c.818G>C (p.Ser273Thr)
2g.202520121G=CA1321540225BMPR2c.887G= (p.Ser296=)
c.818G= (p.Ser273=)
2g.202520121G>TCA350340753BMPR2c.887G>T (p.Ser296Ile)
c.818G>T (p.Ser273Ile)
2g.202520122T>ACA350340754BMPR2c.888T>A (p.Ser296Arg)
c.819T>A (p.Ser273Arg)
2g.202520122T>CCA430840413BMPR2c.888T>C (p.Ser296=)
c.819T>C (p.Ser273=)
2g.202520122T>GCA350340755BMPR2c.888T>G (p.Ser296Arg)
c.819T>G (p.Ser273Arg)
2g.202520123G>ACA350340756BMPR2c.889G>A (p.Asp297Asn)
c.820G>A (p.Asp274Asn)
2g.202520123G>CCA350340758BMPR2c.889G>C (p.Asp297His)
c.820G>C (p.Asp274His)
2g.202520123G>TCA350340757BMPR2c.889G>T (p.Asp297Tyr)
c.820G>T (p.Asp274Tyr)
2g.202520124A>CCA350340759BMPR2c.890A>C (p.Asp297Ala)
c.821A>C (p.Asp274Ala)
2g.202520124A>GCA350340760BMPR2c.890A>G (p.Asp297Gly)
c.821A>G (p.Asp274Gly)
2g.202520124A>TCA350340761BMPR2c.890A>T (p.Asp297Val)
c.821A>T (p.Asp274Val)
2g.202520125C>ACA350340762BMPR2c.891C>A (p.Asp297Glu)
c.822C>A (p.Asp274Glu)
2g.202520125C>GCA350340763BMPR2c.891C>G (p.Asp297Glu)
c.822C>G (p.Asp274Glu)
2g.202520125C>TCA430840418BMPR2c.891C>T (p.Asp297=)
c.822C>T (p.Asp274=)
2g.202520126T>ACA350340764BMPR2c.892T>A (p.Trp298Arg)
c.823T>A (p.Trp275Arg)
2g.202520126T>CCA350340765BMPR2c.892T>C (p.Trp298Arg)
c.823T>C (p.Trp275Arg)
2g.202520126T>GCA350340766BMPR2c.892T>G (p.Trp298Gly)
c.823T>G (p.Trp275Gly)
2g.202520126T=CA1321540226BMPR2c.892T= (p.Trp298=)
c.823T= (p.Trp275=)
2g.202520127G>ACA350340767BMPR2c.893G>A (p.Trp298Ter)
c.824G>A (p.Trp275Ter)
 ClinVar dbSNP COSMIC
2g.202520127G>CCA350340768BMPR2c.893G>C (p.Trp298Ser)
c.824G>C (p.Trp275Ser)
2g.202520127G=CA1321540227BMPR2c.893G= (p.Trp298=)
c.824G= (p.Trp275=)
2g.202520127G>TCA350340769BMPR2c.893G>T (p.Trp298Leu)
c.824G>T (p.Trp275Leu)
 gnomAD v4
2g.202520128_202520129dupCA645293967BMPR2c.894_895dup (p.Val299GlyfsTer2)
c.825_826dup (p.Val276GlyfsTer2)
 ClinVar dbSNP
2g.202520129delCA2580065458BMPR2c.895del (p.Val299Ter)
c.826del (p.Val276Ter)
 ClinVar
2g.202520128G>ACA350340771BMPR2c.894G>A (p.Trp298Ter)
c.825G>A (p.Trp275Ter)
 ClinVar dbSNP
2g.202520128G>CCA350340772BMPR2c.894G>C (p.Trp298Cys)
c.825G>C (p.Trp275Cys)
 gnomAD v4
2g.202520128G>TCA350340770BMPR2c.894G>T (p.Trp298Cys)
c.825G>T (p.Trp275Cys)
2g.202520129G>ACA350340774BMPR2c.895G>A (p.Val299Ile)
c.826G>A (p.Val276Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202520129G>CCA64016751BMPR2c.895G>C (p.Val299Leu)
c.826G>C (p.Val276Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.202520129G=CA1321540228BMPR2c.895G= (p.Val299=)
c.826G= (p.Val276=)
2g.202520129G>TCA350340773BMPR2c.895G>T (p.Val299Leu)
c.826G>T (p.Val276Leu)
 gnomAD v4
2g.202520130T>ACA350340775BMPR2c.896T>A (p.Val299Glu)
c.827T>A (p.Val276Glu)
2g.202520130T>CCA350340776BMPR2c.896T>C (p.Val299Ala)
c.827T>C (p.Val276Ala)
2g.202520130T>GCA350340777BMPR2c.896T>G (p.Val299Gly)
c.827T>G (p.Val276Gly)
2g.202520131_202520137delCA2499215573BMPR2c.897_903del (p.Ser300AlafsTer?)
c.828_834del (p.Ser277AlafsTer?)
 ClinVar dbSNP
2g.202520131A>CCA430840424BMPR2c.897A>C (p.Val299=)
c.828A>C (p.Val276=)
2g.202520131A>GCA430840425BMPR2c.897A>G (p.Val299=)
c.828A>G (p.Val276=)
 gnomAD v4
2g.202520131A>TCA430840426BMPR2c.897A>T (p.Val299=)
c.828A>T (p.Val276=)
2g.202520132A=CA1321540229BMPR2c.898A= (p.Ser300=)
c.829A= (p.Ser277=)
2g.202520132A>CCA350340778BMPR2c.898A>C (p.Ser300Arg)
c.829A>C (p.Ser277Arg)
2g.202520132A>GCA350340779BMPR2c.898A>G (p.Ser300Gly)
c.829A>G (p.Ser277Gly)
 dbSNP
2g.202520132A>TCA350340780BMPR2c.898A>T (p.Ser300Cys)
c.829A>T (p.Ser277Cys)
2g.202520133G>ACA350340781BMPR2c.899G>A (p.Ser300Asn)
c.830G>A (p.Ser277Asn)
2g.202520133G>CCA350340782BMPR2c.899G>C (p.Ser300Thr)
c.830G>C (p.Ser277Thr)
2g.202520133G>TCA350340783BMPR2c.899G>T (p.Ser300Ile)
c.830G>T (p.Ser277Ile)
2g.202520134C>ACA2061245BMPR2c.900C>A (p.Ser300Arg)
c.831C>A (p.Ser277Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202520134C=CA1321540230BMPR2c.900C= (p.Ser300=)
c.831C= (p.Ser277=)
2g.202520134C>GCA2061244BMPR2c.900C>G (p.Ser300Arg)
c.831C>G (p.Ser277Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520134C>TCA430840427BMPR2c.900C>T (p.Ser300=)
c.831C>T (p.Ser277=)
 dbSNP
2g.202520135T>ACA350340785BMPR2c.901T>A (p.Ser301Thr)
c.832T>A (p.Ser278Thr)
2g.202520135T>CCA10576586BMPR2c.901T>C (p.Ser301Pro)
c.832T>C (p.Ser278Pro)
 ClinVar dbSNP
2g.202520135T>GCA350340784BMPR2c.901T>G (p.Ser301Ala)
c.832T>G (p.Ser278Ala)
 COSMIC
2g.202520135T=CA1321540231BMPR2c.901T= (p.Ser301=)
c.832T= (p.Ser278=)
2g.202520136C>ACA350340786BMPR2c.902C>A (p.Ser301Tyr)
c.833C>A (p.Ser278Tyr)
2g.202520136C>GCA350340787BMPR2c.902C>G (p.Ser301Cys)
c.833C>G (p.Ser278Cys)
 gnomAD v4
2g.202520136C>TCA350340788BMPR2c.902C>T (p.Ser301Phe)
c.833C>T (p.Ser278Phe)
 gnomAD v4
2g.202520137T>ACA430840428BMPR2c.903T>A (p.Ser301=)
c.834T>A (p.Ser278=)
2g.202520137T>CCA430840430BMPR2c.903T>C (p.Ser301=)
c.834T>C (p.Ser278=)
2g.202520137T>GCA430840429BMPR2c.903T>G (p.Ser301=)
c.834T>G (p.Ser278=)
2g.202520138T>ACA350340789BMPR2c.904T>A (p.Cys302Ser)
c.835T>A (p.Cys279Ser)
2g.202520138T>CCA350340790BMPR2c.904T>C (p.Cys302Arg)
c.835T>C (p.Cys279Arg)
2g.202520138T>GCA350340791BMPR2c.904T>G (p.Cys302Gly)
c.835T>G (p.Cys279Gly)
 dbSNP
2g.202520138T=CA1321540232BMPR2c.904T= (p.Cys302=)
c.835T= (p.Cys279=)
2g.202520139G>ACA350340792BMPR2c.905G>A (p.Cys302Tyr)
c.836G>A (p.Cys279Tyr)
 dbSNP
2g.202520139G>CCA350340793BMPR2c.905G>C (p.Cys302Ser)
c.836G>C (p.Cys279Ser)
2g.202520139G=CA1321540233BMPR2c.905G= (p.Cys302=)
c.836G= (p.Cys279=)
2g.202520139G>TCA350340794BMPR2c.905G>T (p.Cys302Phe)
c.836G>T (p.Cys279Phe)
2g.202520140C>ACA350340795BMPR2c.906C>A (p.Cys302Ter)
c.837C>A (p.Cys279Ter)
2g.202520140C=CA1321540234BMPR2c.906C= (p.Cys302=)
c.837C= (p.Cys279=)
2g.202520140C>GCA350340796BMPR2c.906C>G (p.Cys302Trp)
c.837C>G (p.Cys279Trp)
2g.202520140C>TCA430840431BMPR2c.906C>T (p.Cys302=)
c.837C>T (p.Cys279=)
 dbSNP
2g.202520141C>ACA350340797BMPR2c.907C>A (p.Arg303Ser)
c.838C>A (p.Arg280Ser)
2g.202520141C=CA1321540235BMPR2c.907C= (p.Arg303=)
c.838C= (p.Arg280=)
2g.202520141C>GCA350340798BMPR2c.907C>G (p.Arg303Gly)
c.838C>G (p.Arg280Gly)
2g.202520141C>TCA2061246BMPR2c.907C>T (p.Arg303Cys)
c.838C>T (p.Arg280Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520142G>ACA2061247BMPR2c.908G>A (p.Arg303His)
c.839G>A (p.Arg280His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520142G>CCA350340800BMPR2c.908G>C (p.Arg303Pro)
c.839G>C (p.Arg280Pro)
2g.202520142G=CA1321540236BMPR2c.908G= (p.Arg303=)
c.839G= (p.Arg280=)
2g.202520142G>TCA350340799BMPR2c.908G>T (p.Arg303Leu)
c.839G>T (p.Arg280Leu)
2g.202520143T>ACA430840432BMPR2c.909T>A (p.Arg303=)
c.840T>A (p.Arg280=)
2g.202520143T>CCA430840433BMPR2c.909T>C (p.Arg303=)
c.840T>C (p.Arg280=)
2g.202520143T>GCA430840434BMPR2c.909T>G (p.Arg303=)
c.840T>G (p.Arg280=)
2g.202520144C>ACA350340801BMPR2c.910C>A (p.Leu304Ile)
c.841C>A (p.Leu281Ile)
2g.202520144C>GCA350340802BMPR2c.910C>G (p.Leu304Val)
c.841C>G (p.Leu281Val)
2g.202520144C>TCA350340803BMPR2c.910C>T (p.Leu304Phe)
c.841C>T (p.Leu281Phe)
2g.202520145T>ACA350340804BMPR2c.911T>A (p.Leu304His)
c.842T>A (p.Leu281His)
2g.202520145T>CCA350340805BMPR2c.911T>C (p.Leu304Pro)
c.842T>C (p.Leu281Pro)
2g.202520145T>GCA350340806BMPR2c.911T>G (p.Leu304Arg)
c.842T>G (p.Leu281Arg)
2g.202520146T>ACA430840435BMPR2c.912T>A (p.Leu304=)
c.843T>A (p.Leu281=)
2g.202520146T>CCA430840436BMPR2c.912T>C (p.Leu304=)
c.843T>C (p.Leu281=)
2g.202520146T>GCA430840437BMPR2c.912T>G (p.Leu304=)
c.843T>G (p.Leu281=)
2g.202520147G>ACA350340807BMPR2c.913G>A (p.Ala305Thr)
c.844G>A (p.Ala282Thr)
2g.202520147G>CCA350340808BMPR2c.913G>C (p.Ala305Pro)
c.844G>C (p.Ala282Pro)
2g.202520147G>TCA350340809BMPR2c.913G>T (p.Ala305Ser)
c.844G>T (p.Ala282Ser)
2g.202520148C>ACA350340810BMPR2c.914C>A (p.Ala305Asp)
c.845C>A (p.Ala282Asp)
2g.202520148C=CA1321540237BMPR2c.914C= (p.Ala305=)
c.845C= (p.Ala282=)
2g.202520148C>GCA350340811BMPR2c.914C>G (p.Ala305Gly)
c.845C>G (p.Ala282Gly)
 dbSNP
2g.202520148C>TCA2061248BMPR2c.914C>T (p.Ala305Val)
c.845C>T (p.Ala282Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520149T>ACA430840438BMPR2c.915T>A (p.Ala305=)
c.846T>A (p.Ala282=)
2g.202520149T>CCA430840439BMPR2c.915T>C (p.Ala305=)
c.846T>C (p.Ala282=)
 gnomAD v4
2g.202520149T>GCA430840440BMPR2c.915T>G (p.Ala305=)
c.846T>G (p.Ala282=)
2g.202520150C>ACA350340814BMPR2c.916C>A (p.His306Asn)
c.847C>A (p.His283Asn)
2g.202520150C>GCA350340812BMPR2c.916C>G (p.His306Asp)
c.847C>G (p.His283Asp)
2g.202520150C>TCA350340813BMPR2c.916C>T (p.His306Tyr)
c.847C>T (p.His283Tyr)
 gnomAD v4
2g.202520151A=CA1321540238BMPR2c.917A= (p.His306=)
c.848A= (p.His283=)
2g.202520151A>CCA350340815BMPR2c.917A>C (p.His306Pro)
c.848A>C (p.His283Pro)
 ClinVar dbSNP
2g.202520151A>GCA350340816BMPR2c.917A>G (p.His306Arg)
c.848A>G (p.His283Arg)
2g.202520151A>TCA350340817BMPR2c.917A>T (p.His306Leu)
c.848A>T (p.His283Leu)
2g.202520152T>ACA350340818BMPR2c.918T>A (p.His306Gln)
c.849T>A (p.His283Gln)
2g.202520152T>CCA2061249BMPR2c.918T>C (p.His306=)
c.849T>C (p.His283=)
 dbSNP ExAC gnomAD v4
2g.202520152T>GCA350340819BMPR2c.918T>G (p.His306Gln)
c.849T>G (p.His283Gln)
 COSMIC
2g.202520152T=CA1321540239BMPR2c.918T= (p.His306=)
c.849T= (p.His283=)
2g.202520152_202520155delCA2586965546BMPR2c.918_921del (p.His306GlnfsTer28)
c.849_852del (p.His283GlnfsTer28)
2g.202520153T>ACA350340820BMPR2c.919T>A (p.Ser307Thr)
c.850T>A (p.Ser284Thr)
2g.202520153T>CCA350340821BMPR2c.919T>C (p.Ser307Pro)
c.850T>C (p.Ser284Pro)
2g.202520153T>GCA350340822BMPR2c.919T>G (p.Ser307Ala)
c.850T>G (p.Ser284Ala)
2g.202520154C>ACA350340823BMPR2c.920C>A (p.Ser307Tyr)
c.851C>A (p.Ser284Tyr)
2g.202520154C>GCA350340824BMPR2c.920C>G (p.Ser307Cys)
c.851C>G (p.Ser284Cys)
2g.202520154C>TCA350340825BMPR2c.920C>T (p.Ser307Phe)
c.851C>T (p.Ser284Phe)
 gnomAD v4 COSMIC
2g.202520155T>ACA430840441BMPR2c.921T>A (p.Ser307=)
c.852T>A (p.Ser284=)
 dbSNP gnomAD v2
2g.202520155T>CCA430840442BMPR2c.921T>C (p.Ser307=)
c.852T>C (p.Ser284=)
2g.202520155T>GCA430840443BMPR2c.921T>G (p.Ser307=)
c.852T>G (p.Ser284=)
2g.202520155T=CA1321540240BMPR2c.921T= (p.Ser307=)
c.852T= (p.Ser284=)
2g.202520156G>ACA350340828BMPR2c.922G>A (p.Val308Ile)
c.853G>A (p.Val285Ile)
 gnomAD v4
2g.202520156G>CCA350340827BMPR2c.922G>C (p.Val308Leu)
c.853G>C (p.Val285Leu)
2g.202520156G>TCA350340826BMPR2c.922G>T (p.Val308Phe)
c.853G>T (p.Val285Phe)
2g.202520157T>ACA350340831BMPR2c.923T>A (p.Val308Asp)
c.854T>A (p.Val285Asp)
2g.202520157T>CCA350340829BMPR2c.923T>C (p.Val308Ala)
c.854T>C (p.Val285Ala)
2g.202520157T>GCA350340830BMPR2c.923T>G (p.Val308Gly)
c.854T>G (p.Val285Gly)
2g.202520158T>ACA2061250BMPR2c.924T>A (p.Val308=)
c.855T>A (p.Val285=)
 dbSNP ExAC gnomAD v2
2g.202520158T>CCA430840444BMPR2c.924T>C (p.Val308=)
c.855T>C (p.Val285=)
2g.202520158T>GCA430840445BMPR2c.924T>G (p.Val308=)
c.855T>G (p.Val285=)
2g.202520158T=CA1321540241BMPR2c.924T= (p.Val308=)
c.855T= (p.Val285=)
2g.202520159A=CA1321540242BMPR2c.925A= (p.Thr309=)
c.856A= (p.Thr286=)
2g.202520159A>CCA350340832BMPR2c.925A>C (p.Thr309Pro)
c.856A>C (p.Thr286Pro)
2g.202520159A>GCA2061251BMPR2c.925A>G (p.Thr309Ala)
c.856A>G (p.Thr286Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202520159A>TCA350340833BMPR2c.925A>T (p.Thr309Ser)
c.856A>T (p.Thr286Ser)
2g.202520160C>ACA350340834BMPR2c.926C>A (p.Thr309Asn)
c.857C>A (p.Thr286Asn)
2g.202520160C>GCA350340835BMPR2c.926C>G (p.Thr309Ser)
c.857C>G (p.Thr286Ser)
2g.202520160C>TCA350340836BMPR2c.926C>T (p.Thr309Ile)
c.857C>T (p.Thr286Ile)
 gnomAD v4
2g.202520161T>ACA430840446BMPR2c.927T>A (p.Thr309=)
c.858T>A (p.Thr286=)
2g.202520161T>CCA430840447BMPR2c.927T>C (p.Thr309=)
c.858T>C (p.Thr286=)
 gnomAD v4
2g.202520161T>GCA430840448BMPR2c.927T>G (p.Thr309=)
c.858T>G (p.Thr286=)
2g.202520162A=CA1321540243BMPR2c.928A= (p.Arg310=)
c.859A= (p.Arg287=)
2g.202520162A>CCA430840449BMPR2c.928A>C (p.Arg310=)
c.859A>C (p.Arg287=)
2g.202520162A>GCA350340837BMPR2c.928A>G (p.Arg310Gly)
c.859A>G (p.Arg287Gly)
2g.202520162A>TCA350340838BMPR2c.928A>T (p.Arg310Ter)
c.859A>T (p.Arg287Ter)
 ClinVar dbSNP
2g.202520163G>ACA350340839BMPR2c.929G>A (p.Arg310Lys)
c.860G>A (p.Arg287Lys)
2g.202520163G>CCA350340840BMPR2c.929G>C (p.Arg310Thr)
c.860G>C (p.Arg287Thr)
2g.202520163G=CA1321540244BMPR2c.929G= (p.Arg310=)
c.860G= (p.Arg287=)
2g.202520163G>TCA2061252BMPR2c.929G>T (p.Arg310Ile)
c.860G>T (p.Arg287Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202520164A>CCA350340842BMPR2c.930A>C (p.Arg310Ser)
c.861A>C (p.Arg287Ser)
2g.202520164A>GCA430840450BMPR2c.930A>G (p.Arg310=)
c.861A>G (p.Arg287=)
2g.202520164A>TCA350340841BMPR2c.930A>T (p.Arg310Ser)
c.861A>T (p.Arg287Ser)
2g.202520165G>ACA350340843BMPR2c.931G>A (p.Gly311Arg)
c.862G>A (p.Gly288Arg)
 COSMIC
2g.202520165G>CCA350340844BMPR2c.931G>C (p.Gly311Arg)
c.862G>C (p.Gly288Arg)
2g.202520165G>TCA350340845BMPR2c.931G>T (p.Gly311Ter)
c.862G>T (p.Gly288Ter)
2g.202520166G>ACA350340846BMPR2c.932G>A (p.Gly311Glu)
c.863G>A (p.Gly288Glu)
 ClinVar dbSNP gnomAD v4
2g.202520166G>CCA350340847BMPR2c.932G>C (p.Gly311Ala)
c.863G>C (p.Gly288Ala)
2g.202520166G=CA1321540245BMPR2c.932G= (p.Gly311=)
c.863G= (p.Gly288=)
2g.202520166G>TCA350340848BMPR2c.932G>T (p.Gly311Val)
c.863G>T (p.Gly288Val)
2g.202520167A>CCA430840452BMPR2c.933A>C (p.Gly311=)
c.864A>C (p.Gly288=)
2g.202520167A>GCA430840453BMPR2c.933A>G (p.Gly311=)
c.864A>G (p.Gly288=)
2g.202520167A>TCA430840451BMPR2c.933A>T (p.Gly311=)
c.864A>T (p.Gly288=)
2g.202520168C>ACA350340850BMPR2c.934C>A (p.Leu312Met)
c.865C>A (p.Leu289Met)
 COSMIC
2g.202520168C>GCA350340849BMPR2c.934C>G (p.Leu312Val)
c.865C>G (p.Leu289Val)
2g.202520168C>TCA430840454BMPR2c.934C>T (p.Leu312=)
c.865C>T (p.Leu289=)
2g.202520169T>ACA350340851BMPR2c.935T>A (p.Leu312Gln)
c.866T>A (p.Leu289Gln)
2g.202520169T>CCA350340852BMPR2c.935T>C (p.Leu312Pro)
c.866T>C (p.Leu289Pro)
 ClinVar dbSNP
2g.202520169T>GCA350340853BMPR2c.935T>G (p.Leu312Arg)
c.866T>G (p.Leu289Arg)
2g.202520170G>ACA430840457BMPR2c.936G>A (p.Leu312=)
c.867G>A (p.Leu289=)
2g.202520170G>CCA430840456BMPR2c.936G>C (p.Leu312=)
c.867G>C (p.Leu289=)
2g.202520170G>TCA430840455BMPR2c.936G>T (p.Leu312=)
c.867G>T (p.Leu289=)
2g.202520171G>ACA350340854BMPR2c.937G>A (p.Ala313Thr)
c.868G>A (p.Ala290Thr)
2g.202520171G>CCA350340855BMPR2c.937G>C (p.Ala313Pro)
c.868G>C (p.Ala290Pro)
 ClinVar dbSNP
2g.202520171G=CA1321540246BMPR2c.937G= (p.Ala313=)
c.868G= (p.Ala290=)
2g.202520171G>TCA350340856BMPR2c.937G>T (p.Ala313Ser)
c.868G>T (p.Ala290Ser)
2g.202520172C>ACA350340857BMPR2c.938C>A (p.Ala313Asp)
c.869C>A (p.Ala290Asp)
2g.202520172C>GCA350340859BMPR2c.938C>G (p.Ala313Gly)
c.869C>G (p.Ala290Gly)
2g.202520172C>TCA350340858BMPR2c.938C>T (p.Ala313Val)
c.869C>T (p.Ala290Val)
2g.202520173T>ACA430840460BMPR2c.939T>A (p.Ala313=)
c.870T>A (p.Ala290=)
2g.202520173T>CCA430840458BMPR2c.939T>C (p.Ala313=)
c.870T>C (p.Ala290=)
2g.202520173T>GCA430840459BMPR2c.939T>G (p.Ala313=)
c.870T>G (p.Ala290=)
2g.202520174dupCA645532631BMPR2c.940dup (p.Tyr314LeufsTer13)
c.871dup (p.Tyr291LeufsTer13)
 COSMIC
2g.202520174T>ACA350340860BMPR2c.940T>A (p.Tyr314Asn)
c.871T>A (p.Tyr291Asn)
2g.202520174T>CCA350340861BMPR2c.940T>C (p.Tyr314His)
c.871T>C (p.Tyr291His)
2g.202520174T>GCA350340862BMPR2c.940T>G (p.Tyr314Asp)
c.871T>G (p.Tyr291Asp)
2g.202520175A>CCA350340863BMPR2c.941A>C (p.Tyr314Ser)
c.872A>C (p.Tyr291Ser)
2g.202520175A>GCA350340864BMPR2c.941A>G (p.Tyr314Cys)
c.872A>G (p.Tyr291Cys)
2g.202520175A>TCA350340865BMPR2c.941A>T (p.Tyr314Phe)
c.872A>T (p.Tyr291Phe)
2g.202520176T>ACA350340867BMPR2c.942T>A (p.Tyr314Ter)
c.873T>A (p.Tyr291Ter)
2g.202520176T>CCA430840462BMPR2c.942T>C (p.Tyr314=)
c.873T>C (p.Tyr291=)
2g.202520176T>GCA350340866BMPR2c.942T>G (p.Tyr314Ter)
c.873T>G (p.Tyr291Ter)
2g.202520176dupCA430840461BMPR2c.942dup (p.Leu315SerfsTer12)
c.873dup (p.Leu292SerfsTer12)
2g.202520176_202520177insACA2586965548BMPR2c.942_943insA (p.Leu315ThrfsTer12)
c.873_874insA (p.Leu292ThrfsTer12)
2g.202520177C>ACA350340868BMPR2c.943C>A (p.Leu315Ile)
c.874C>A (p.Leu292Ile)
2g.202520177C>GCA350340869BMPR2c.943C>G (p.Leu315Val)
c.874C>G (p.Leu292Val)
2g.202520177C>TCA350340870BMPR2c.943C>T (p.Leu315Phe)
c.874C>T (p.Leu292Phe)
 gnomAD v4
2g.202520178T>ACA350340871BMPR2c.944T>A (p.Leu315His)
c.875T>A (p.Leu292His)
2g.202520178T>CCA350340872BMPR2c.944T>C (p.Leu315Pro)
c.875T>C (p.Leu292Pro)
2g.202520178T>GCA350340873BMPR2c.944T>G (p.Leu315Arg)
c.875T>G (p.Leu292Arg)
2g.202520179T>ACA430840463BMPR2c.945T>A (p.Leu315=)
c.876T>A (p.Leu292=)
2g.202520179T>CCA430840464BMPR2c.945T>C (p.Leu315=)
c.876T>C (p.Leu292=)
2g.202520179T>GCA430840465BMPR2c.945T>G (p.Leu315=)
c.876T>G (p.Leu292=)
2g.202520180C>ACA350340874BMPR2c.946C>A (p.His316Asn)
c.877C>A (p.His293Asn)
2g.202520180C>GCA350340876BMPR2c.946C>G (p.His316Asp)
c.877C>G (p.His293Asp)
2g.202520180C>TCA350340875BMPR2c.946C>T (p.His316Tyr)
c.877C>T (p.His293Tyr)
2g.202520181A>CCA350340877BMPR2c.947A>C (p.His316Pro)
c.878A>C (p.His293Pro)
2g.202520181A>GCA350340878BMPR2c.947A>G (p.His316Arg)
c.878A>G (p.His293Arg)
 ClinVar dbSNP
2g.202520181A>TCA350340879BMPR2c.947A>T (p.His316Leu)
c.878A>T (p.His293Leu)
2g.202520182C>ACA350340880BMPR2c.948C>A (p.His316Gln)
c.879C>A (p.His293Gln)
2g.202520182C=CA1321540247BMPR2c.948C= (p.His316=)
c.879C= (p.His293=)
2g.202520182C>GCA350340881BMPR2c.948C>G (p.His316Gln)
c.879C>G (p.His293Gln)
 gnomAD v4
2g.202520182C>TCA430840466BMPR2c.948C>T (p.His316=)
c.879C>T (p.His293=)
 dbSNP
2g.202520183A=CA1321540248BMPR2c.949A= (p.Thr317=)
c.880A= (p.Thr294=)
2g.202520183A>CCA350340882BMPR2c.949A>C (p.Thr317Pro)
c.880A>C (p.Thr294Pro)
2g.202520183A>GCA350340883BMPR2c.949A>G (p.Thr317Ala)
c.880A>G (p.Thr294Ala)
 dbSNP
2g.202520183A>TCA350340884BMPR2c.949A>T (p.Thr317Ser)
c.880A>T (p.Thr294Ser)
 dbSNP
2g.202520183_202520184insGCA2586965549BMPR2c.949_950insG (p.Thr317SerfsTer10)
c.880_881insG (p.Thr294SerfsTer10)
2g.202520184C>ACA350340885BMPR2c.950C>A (p.Thr317Lys)
c.881C>A (p.Thr294Lys)
2g.202520184C>GCA350340886BMPR2c.950C>G (p.Thr317Arg)
c.881C>G (p.Thr294Arg)
2g.202520184C>TCA350340887BMPR2c.950C>T (p.Thr317Ile)
c.881C>T (p.Thr294Ile)
2g.202520185A>CCA430840468BMPR2c.951A>C (p.Thr317=)
c.882A>C (p.Thr294=)
2g.202520185A>GCA430840469BMPR2c.951A>G (p.Thr317=)
c.882A>G (p.Thr294=)
 gnomAD v4
2g.202520185A>TCA430840471BMPR2c.951A>T (p.Thr317=)
c.882A>T (p.Thr294=)
2g.202520186G>ACA350340889BMPR2c.952G>A (p.Glu318Lys)
c.883G>A (p.Glu295Lys)
2g.202520186G>CCA350340890BMPR2c.952G>C (p.Glu318Gln)
c.883G>C (p.Glu295Gln)
 dbSNP
2g.202520186G=CA1321540249BMPR2c.952G= (p.Glu318=)
c.883G= (p.Glu295=)
2g.202520186G>TCA350340888BMPR2c.952G>T (p.Glu318Ter)
c.883G>T (p.Glu295Ter)
2g.202520187A>CCA350340891BMPR2c.953A>C (p.Glu318Ala)
c.884A>C (p.Glu295Ala)
2g.202520187A>GCA350340893BMPR2c.953A>G (p.Glu318Gly)
c.884A>G (p.Glu295Gly)
2g.202520187A>TCA350340892BMPR2c.953A>T (p.Glu318Val)
c.884A>T (p.Glu295Val)
2g.202520188A=CA1321540251BMPR2c.954A= (p.Glu318=)
c.885A= (p.Glu295=)
2g.202520188A>CCA350340894BMPR2c.954A>C (p.Glu318Asp)
c.885A>C (p.Glu295Asp)
 ClinVar dbSNP
2g.202520188A>GCA64016822BMPR2c.954A>G (p.Glu318=)
c.885A>G (p.Glu295=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202520188A>TCA350340895BMPR2c.954A>T (p.Glu318Asp)
c.885A>T (p.Glu295Asp)
2g.202520188_202520189delinsATCA1321540250BMPR2c.954_955delinsAT (p.Glu318=)
c.885_886delinsAT (p.Glu295=)
2g.202520189T>ACA350340896BMPR2c.955T>A (p.Leu319Ile)
c.886T>A (p.Leu296Ile)
2g.202520189T>CCA430840473BMPR2c.955T>C (p.Leu319=)
c.886T>C (p.Leu296=)
2g.202520189T>GCA350340897BMPR2c.955T>G (p.Leu319Val)
c.886T>G (p.Leu296Val)
2g.202520190delCA916754180BMPR2c.956del (p.Leu319TyrfsTer16)
c.887del (p.Leu296TyrfsTer16)
 dbSNP
2g.202520190T>ACA350340898BMPR2c.956T>A (p.Leu319Ter)
c.887T>A (p.Leu296Ter)
2g.202520190T>CCA350340899BMPR2c.956T>C (p.Leu319Ser)
c.887T>C (p.Leu296Ser)
2g.202520190T>GCA350340900BMPR2c.956T>G (p.Leu319Ter)
c.887T>G (p.Leu296Ter)
2g.202520191A>CCA350340901BMPR2c.957A>C (p.Leu319Phe)
c.888A>C (p.Leu296Phe)
2g.202520191A>GCA430840474BMPR2c.957A>G (p.Leu319=)
c.888A>G (p.Leu296=)
2g.202520191A>TCA350340902BMPR2c.957A>T (p.Leu319Phe)
c.888A>T (p.Leu296Phe)
2g.202520192C>ACA350340903BMPR2c.958C>A (p.Pro320Thr)
c.889C>A (p.Pro297Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202520192C=CA1321540252BMPR2c.958C= (p.Pro320=)
c.889C= (p.Pro297=)
2g.202520192C>GCA350340904BMPR2c.958C>G (p.Pro320Ala)
c.889C>G (p.Pro297Ala)
2g.202520192C>TCA350340905BMPR2c.958C>T (p.Pro320Ser)
c.889C>T (p.Pro297Ser)
2g.202520193delCA2577215616BMPR2c.959del (p.Pro320HisfsTer15)
c.890del (p.Pro297HisfsTer15)
2g.202520193C>ACA350340908BMPR2c.959C>A (p.Pro320Gln)
c.890C>A (p.Pro297Gln)
2g.202520193C>GCA350340907BMPR2c.959C>G (p.Pro320Arg)
c.890C>G (p.Pro297Arg)
2g.202520193C>TCA350340906BMPR2c.959C>T (p.Pro320Leu)
c.890C>T (p.Pro297Leu)
2g.202520194A>CCA430840475BMPR2c.960A>C (p.Pro320=)
c.891A>C (p.Pro297=)
2g.202520194A>GCA430840477BMPR2c.960A>G (p.Pro320=)
c.891A>G (p.Pro297=)
 gnomAD v4
2g.202520194A>TCA430840476BMPR2c.960A>T (p.Pro320=)
c.891A>T (p.Pro297=)
2g.202520194_202520195delinsACCA1321540253BMPR2c.960_961delinsAC (p.Pro320=)
c.891_892delinsAC (p.Pro297=)
2g.202520195_202520197dupCA2499215574BMPR2c.961_963dup (p.Arg321_Gly322insArg)
c.892_894dup (p.Arg298_Gly299insArg)
 ClinVar dbSNP
2g.202520195delCA645293984BMPR2c.961del (p.Arg321GlufsTer14)
c.892del (p.Arg298GlufsTer14)
 ClinVar dbSNP
2g.202520195C>ACA430840478BMPR2c.961C>A (p.Arg321=)
c.892C>A (p.Arg298=)
2g.202520195C=CA1321540254BMPR2c.961C= (p.Arg321=)
c.892C= (p.Arg298=)
2g.202520195C>GCA350340909BMPR2c.961C>G (p.Arg321Gly)
c.892C>G (p.Arg298Gly)
2g.202520195C>TCA16610660BMPR2c.961C>T (p.Arg321Ter)
c.892C>T (p.Arg298Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.202520196G>ACA2061253BMPR2c.962G>A (p.Arg321Gln)
c.893G>A (p.Arg298Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520196G>CCA350340910BMPR2c.962G>C (p.Arg321Pro)
c.893G>C (p.Arg298Pro)
2g.202520196G=CA1321540255BMPR2c.962G= (p.Arg321=)
c.893G= (p.Arg298=)
2g.202520196G>TCA350340911BMPR2c.962G>T (p.Arg321Leu)
c.893G>T (p.Arg298Leu)
2g.202520197A=CA1321540256BMPR2c.963A= (p.Arg321=)
c.894A= (p.Arg298=)
2g.202520197A>CCA64016830BMPR2c.963A>C (p.Arg321=)
c.894A>C (p.Arg298=)
 dbSNP gnomAD v3 gnomAD v4
2g.202520197A>GCA430840479BMPR2c.963A>G (p.Arg321=)
c.894A>G (p.Arg298=)
2g.202520197A>TCA430840480BMPR2c.963A>T (p.Arg321=)
c.894A>T (p.Arg298=)
2g.202520198G>ACA350340912BMPR2c.964G>A (p.Gly322Arg)
c.895G>A (p.Gly299Arg)
 gnomAD v4
2g.202520198G>CCA350340913BMPR2c.964G>C (p.Gly322Arg)
c.895G>C (p.Gly299Arg)
2g.202520198G>TCA350340914BMPR2c.964G>T (p.Gly322Ter)
c.895G>T (p.Gly299Ter)
2g.202520199G>ACA350340915BMPR2c.965G>A (p.Gly322Glu)
c.896G>A (p.Gly299Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.202520199G>CCA350340916BMPR2c.965G>C (p.Gly322Ala)
c.896G>C (p.Gly299Ala)
2g.202520199G=CA1321540257BMPR2c.965G= (p.Gly322=)
c.896G= (p.Gly299=)
2g.202520199G>TCA350340917BMPR2c.965G>T (p.Gly322Val)
c.896G>T (p.Gly299Val)
2g.202520200A>CCA430840481BMPR2c.966A>C (p.Gly322=)
c.897A>C (p.Gly299=)
2g.202520200A>GCA430840482BMPR2c.966A>G (p.Gly322=)
c.897A>G (p.Gly299=)
2g.202520200A>TCA430840483BMPR2c.966A>T (p.Gly322=)
c.897A>T (p.Gly299=)
2g.202520201G>ACA350340919BMPR2c.967G>A (p.Asp323Asn)
c.898G>A (p.Asp300Asn)
 ClinVar dbSNP
2g.202520201G>CCA350340920BMPR2c.967G>C (p.Asp323His)
c.898G>C (p.Asp300His)
2g.202520201G>TCA350340918BMPR2c.967G>T (p.Asp323Tyr)
c.898G>T (p.Asp300Tyr)
2g.202520201_202520202insACA658761119BMPR2c.967_967+1insA (n.967_967+1insA)
c.898_898+1insA (n.898_898+1insA)
2g.202520202G>ACA350340921BMPR2c.967+1G>A (n.967+1G>A)
c.898+1G>A (n.898+1G>A)
2g.202520202G>CCA350340922BMPR2c.967+1G>C (n.967+1G>C)
c.898+1G>C (n.898+1G>C)
2g.202520202G>TCA350340923BMPR2c.967+1G>T (n.967+1G>T)
c.898+1G>T (n.898+1G>T)
2g.202520203delCA2662705996BMPR2c.967+2del (n.967+2del)
c.898+2del (n.898+2del)
 gnomAD v4
2g.202520203T>ACA350340924BMPR2c.967+2T>A (n.967+2T>A)
c.898+2T>A (n.898+2T>A)
2g.202520203T>CCA350340925BMPR2c.967+2T>C (n.967+2T>C)
c.898+2T>C (n.898+2T>C)
 ClinVar dbSNP
2g.202520203T>GCA350340926BMPR2c.967+2T>G (n.967+2T>G)
c.898+2T>G (n.898+2T>G)
2g.202520203T=CA1321540258BMPR2c.967+2T= (n.967+2T=)
c.898+2T= (n.898+2T=)
2g.202520203_202520204delinsTACA1321540259BMPR2c.967+2_967+3delinsTA (n.967+2_967+3delinsTA)
c.898+2_898+3delinsTA (n.898+2_898+3delinsTA)
2g.202520205delCA645293985BMPR2c.967+4del (n.967+4del)
c.898+4del (n.898+4del)
 ClinVar dbSNP
2g.202520206G>ACA2586965551BMPR2c.967+5G>A (n.967+5G>A)
c.898+5G>A (n.898+5G>A)
2g.202520206G>CCA645293987BMPR2c.967+5G>C (n.967+5G>C)
c.898+5G>C (n.898+5G>C)
 ClinVar dbSNP
2g.202520206G=CA1321540260BMPR2c.967+5G= (n.967+5G=)
c.898+5G= (n.898+5G=)
2g.202520206G>TCA645293986BMPR2c.967+5G>T (n.967+5G>T)
c.898+5G>T (n.898+5G>T)
 ClinVar dbSNP
2g.202520207A>GCA2662705997BMPR2c.967+6A>G (n.967+6A>G)
c.898+6A>G (n.898+6A>G)
 gnomAD v4
2g.202520208delCA2577215617BMPR2c.967+7del (n.967+7del)
c.898+7del (n.898+7del)
2g.202520209A>GCA2662705999BMPR2c.967+8A>G (n.967+8A>G)
c.898+8A>G (n.898+8A>G)
 gnomAD v4
2g.202520210G>ACA2662706000BMPR2c.967+9G>A (n.967+9G>A)
c.898+9G>A (n.898+9G>A)
 gnomAD v4
2g.202520211T>CCA2662706002BMPR2c.967+10T>C (n.967+10T>C)
c.898+10T>C (n.898+10T>C)
 gnomAD v4
2g.202520212C>ACA2662706004BMPR2c.967+11C>A (n.967+11C>A)
c.898+11C>A (n.898+11C>A)
 gnomAD v4
2g.202520214A=CA1321540261BMPR2c.967+13A= (n.967+13A=)
c.898+13A= (n.898+13A=)
2g.202520214A>CCA1321540262BMPR2c.967+13A>C (n.967+13A>C)
c.898+13A>C (n.898+13A>C)
 dbSNP
2g.202520214A>GCA2061254BMPR2c.967+13A>G (n.967+13A>G)
c.898+13A>G (n.898+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202520215T>CCA2662706007BMPR2c.967+14T>C (n.967+14T>C)
c.898+14T>C (n.898+14T>C)
 gnomAD v4
2g.202520215_202520216insTTCATCTATTGCA2662706009BMPR2c.967+14_967+15insTTCATCTATTG (n.967+14_967+15insTTCATCTATTG)
c.898+14_898+15insTTCATCTATTG (n.898+14_898+15insTTCATCTATTG)
 gnomAD v4
2g.202520216A>CCA2753905648BMPR2c.967+15A>C (n.967+15A>C)
c.898+15A>C (n.898+15A>C)

Number of alleles fetched