Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202530750A=CA1321544873BMPR2c.968-44A= (n.968-44A=)
c.899-44A= (n.899-44A=)
2g.202530750A>GCA2061263BMPR2c.968-44A>G (n.968-44A>G)
c.899-44A>G (n.899-44A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530751G>CCA2061264BMPR2c.968-43G>C (n.968-43G>C)
c.899-43G>C (n.899-43G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530751G=CA1321544874BMPR2c.968-43G= (n.968-43G=)
c.899-43G= (n.899-43G=)
2g.202530751G>TCA2662706080BMPR2c.968-43G>T (n.968-43G>T)
c.899-43G>T (n.899-43G>T)
gnomAD v4
2g.202530753C>ACA2662706081BMPR2c.968-41C>A (n.968-41C>A)
c.899-41C>A (n.899-41C>A)
gnomAD v4
2g.202530754C>GCA2662706082BMPR2c.968-40C>G (n.968-40C>G)
c.899-40C>G (n.899-40C>G)
gnomAD v4
2g.202530755C>ACA1041346410BMPR2c.968-39C>A (n.968-39C>A)
c.899-39C>A (n.899-39C>A)
dbSNP gnomAD v3 gnomAD v4
2g.202530755C=CA1321544875BMPR2c.968-39C= (n.968-39C=)
c.899-39C= (n.899-39C=)
2g.202530755C>GCA2662706084BMPR2c.968-39C>G (n.968-39C>G)
c.899-39C>G (n.899-39C>G)
gnomAD v4
2g.202530756T>CCA2662706087BMPR2c.968-38T>C (n.968-38T>C)
c.899-38T>C (n.899-38T>C)
gnomAD v4
2g.202530759delCA2662706086BMPR2c.968-35del (n.968-35del)
c.899-35del (n.899-35del)
gnomAD v4
2g.202530761T>CCA2662706089BMPR2c.968-33T>C (n.968-33T>C)
c.899-33T>C (n.899-33T>C)
dbSNP gnomAD v4
2g.202530762delCA2662706088BMPR2c.968-32del (n.968-32del)
c.899-32del (n.899-32del)
gnomAD v4
2g.202530762T>GCA539387041BMPR2c.968-32T>G (n.968-32T>G)
c.899-32T>G (n.899-32T>G)
dbSNP gnomAD v2 gnomAD v4
2g.202530762T=CA1321544876BMPR2c.968-32T= (n.968-32T=)
c.899-32T= (n.899-32T=)
2g.202530763C>ACA2061265BMPR2c.968-31C>A (n.968-31C>A)
c.899-31C>A (n.899-31C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530763C=CA1321544877BMPR2c.968-31C= (n.968-31C=)
c.899-31C= (n.899-31C=)
2g.202530763C>GCA2662706096BMPR2c.968-31C>G (n.968-31C>G)
c.899-31C>G (n.899-31C>G)
gnomAD v4
2g.202530763C>TCA539387042BMPR2c.968-31C>T (n.968-31C>T)
c.899-31C>T (n.899-31C>T)
dbSNP gnomAD v2 gnomAD v4
2g.202530764delCA2662706097BMPR2c.968-30del (n.968-30del)
c.899-30del (n.899-30del)
gnomAD v4
2g.202530765T>CCA64023281BMPR2c.968-29T>C (n.968-29T>C)
c.899-29T>C (n.899-29T>C)
dbSNP
2g.202530765T=CA1321544878BMPR2c.968-29T= (n.968-29T=)
c.899-29T= (n.899-29T=)
2g.202530766T>CCA2662706099BMPR2c.968-28T>C (n.968-28T>C)
c.899-28T>C (n.899-28T>C)
gnomAD v4
2g.202530767G>TCA2662706101BMPR2c.968-27G>T (n.968-27G>T)
c.899-27G>T (n.899-27G>T)
gnomAD v4
2g.202530768A>GCA2662706102BMPR2c.968-26A>G (n.968-26A>G)
c.899-26A>G (n.899-26A>G)
gnomAD v4
2g.202530769_202530770delinsTACA1321544879BMPR2c.968-25_968-24delinsTA (n.968-25_968-24delinsTA)
c.899-25_899-24delinsTA (n.899-25_899-24delinsTA)
2g.202530772delCA763433319BMPR2c.968-22del (n.968-22del)
c.899-22del (n.899-22del)
dbSNP gnomAD v3 gnomAD v4
2g.202530771A>CCA2577215644BMPR2c.968-23A>C (n.968-23A>C)
c.899-23A>C (n.899-23A>C)
2g.202530773T>CCA2662706103BMPR2c.968-21T>C (n.968-21T>C)
c.899-21T>C (n.899-21T>C)
gnomAD v4
2g.202530773_202530791delinsTATTTGAAATTATCCAAACCA1321544880BMPR2c.968-21_968-3delinsTATTTGAAATTATCCAAAC (n.968-21_968-3delinsTATTTGAAATTATCCAAAC)
c.899-21_899-3delinsTATTTGAAATTATCCAAAC (n.899-21_899-3delinsTATTTGAAATTATCCAAAC)
2g.202530775_202530792delCA2061266BMPR2c.968-19_968-2del (n.968-19_968-2del)
c.899-19_899-2del (n.899-19_899-2del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530775T>CCA2662706107BMPR2c.968-19T>C (n.968-19T>C)
c.899-19T>C (n.899-19T>C)
gnomAD v4
2g.202530776T>CCA2061267BMPR2c.968-18T>C (n.968-18T>C)
c.899-18T>C (n.899-18T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530776T=CA1321544881BMPR2c.968-18T= (n.968-18T=)
c.899-18T= (n.899-18T=)
2g.202530777T>CCA2662706109BMPR2c.968-17T>C (n.968-17T>C)
c.899-17T>C (n.899-17T>C)
gnomAD v4
2g.202530778G>TCA2662706110BMPR2c.968-16G>T (n.968-16G>T)
c.899-16G>T (n.899-16G>T)
gnomAD v4
2g.202530779A>GCA2662706111BMPR2c.968-15A>G (n.968-15A>G)
c.899-15A>G (n.899-15A>G)
gnomAD v4
2g.202530782T>GCA2586965552BMPR2c.968-12T>G (n.968-12T>G)
c.899-12T>G (n.899-12T>G)
2g.202530786C>ACA2662706112BMPR2c.968-8C>A (n.968-8C>A)
c.899-8C>A (n.899-8C>A)
gnomAD v4
2g.202530787C>ACA645532632BMPR2c.968-7C>A (n.968-7C>A)
c.899-7C>A (n.899-7C>A)
COSMIC
2g.202530787C=CA1321544882BMPR2c.968-7C= (n.968-7C=)
c.899-7C= (n.899-7C=)
2g.202530787C>TCA539387043BMPR2c.968-7C>T (n.968-7C>T)
c.899-7C>T (n.899-7C>T)
dbSNP gnomAD v2 gnomAD v4
2g.202530789_202530792delCA2662706114BMPR2c.968-5_968-2del (n.968-5_968-2del)
c.899-5_899-2del (n.899-5_899-2del)
gnomAD v4
2g.202530788A>TCA2662706119BMPR2c.968-6A>T (n.968-6A>T)
c.899-6A>T (n.899-6A>T)
gnomAD v4
2g.202530789A=CA1321544883BMPR2c.968-5A= (n.968-5A=)
c.899-5A= (n.899-5A=)
2g.202530789A>GCA16610662BMPR2c.968-5A>G (n.968-5A>G)
c.899-5A>G (n.899-5A>G)
ClinVar dbSNP
2g.202530790A=CA1321544884BMPR2c.968-4A= (n.968-4A=)
c.899-4A= (n.899-4A=)
2g.202530790A>GCA1041346411BMPR2c.968-4A>G (n.968-4A>G)
c.899-4A>G (n.899-4A>G)
dbSNP gnomAD v3 gnomAD v4
2g.202530791C=CA1321544885BMPR2c.968-3C= (n.968-3C=)
c.899-3C= (n.899-3C=)
2g.202530791C>GCA645293968BMPR2c.968-3C>G (n.968-3C>G)
c.899-3C>G (n.899-3C>G)
ClinVar dbSNP
2g.202530792A=CA1321544886BMPR2c.968-2A= (n.968-2A=)
c.899-2A= (n.899-2A=)
2g.202530792A>CCA350341220BMPR2c.968-2A>C (n.968-2A>C)
c.899-2A>C (n.899-2A>C)
ClinVar dbSNP
2g.202530792A>GCA350341221BMPR2c.968-2A>G (n.968-2A>G)
c.899-2A>G (n.899-2A>G)
2g.202530792A>TCA350341224BMPR2c.968-2A>T (n.968-2A>T)
c.899-2A>T (n.899-2A>T)
2g.202530793G>ACA350341227BMPR2c.968-1G>A (n.968-1G>A)
c.899-1G>A (n.899-1G>A)
2g.202530793G>CCA350341228BMPR2c.968-1G>C (n.968-1G>C)
c.899-1G>C (n.899-1G>C)
2g.202530793G=CA1321544887BMPR2c.968-1G= (n.968-1G=)
c.899-1G= (n.899-1G=)
2g.202530793G>TCA350341230BMPR2c.968-1G>T (n.968-1G>T)
c.899-1G>T (n.899-1G>T)
ClinVar dbSNP
2g.202530794A=CA1321544888BMPR2c.968A= (p.Asp323=)
c.899A= (p.Asp300=)
2g.202530794A>CCA350341233BMPR2c.968A>C (p.Asp323Ala)
c.899A>C (p.Asp300Ala)
2g.202530794A>GCA350341236BMPR2c.968A>G (p.Asp323Gly)
c.899A>G (p.Asp300Gly)
2g.202530794A>TCA350341235BMPR2c.968A>T (p.Asp323Val)
c.899A>T (p.Asp300Val)
2g.202530795T>ACA350341239BMPR2c.969T>A (p.Asp323Glu)
c.900T>A (p.Asp300Glu)
2g.202530795T>CCA2061268BMPR2c.969T>C (p.Asp323=)
c.900T>C (p.Asp300=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530795T>GCA350341241BMPR2c.969T>G (p.Asp323Glu)
c.900T>G (p.Asp300Glu)
2g.202530795T=CA1321544889BMPR2c.969T= (p.Asp323=)
c.900T= (p.Asp300=)
2g.202530795dupCA645293969BMPR2c.969dup (p.His324SerfsTer3)
c.900dup (p.His301SerfsTer3)
ClinVar dbSNP
2g.202530796C>ACA350341244BMPR2c.970C>A (p.His324Asn)
c.901C>A (p.His301Asn)
2g.202530796C>GCA350341245BMPR2c.970C>G (p.His324Asp)
c.901C>G (p.His301Asp)
2g.202530796C>TCA350341247BMPR2c.970C>T (p.His324Tyr)
c.901C>T (p.His301Tyr)
gnomAD v4
2g.202530797A=CA1321544890BMPR2c.971A= (p.His324=)
c.902A= (p.His301=)
2g.202530797A>CCA350341250BMPR2c.971A>C (p.His324Pro)
c.902A>C (p.His301Pro)
2g.202530797A>GCA2061269BMPR2c.971A>G (p.His324Arg)
c.902A>G (p.His301Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530797A>TCA350341253BMPR2c.971A>T (p.His324Leu)
c.902A>T (p.His301Leu)
2g.202530798T>ACA350341255BMPR2c.972T>A (p.His324Gln)
c.903T>A (p.His301Gln)
2g.202530798T>CCA430847202BMPR2c.972T>C (p.His324=)
c.903T>C (p.His301=)
2g.202530798T>GCA350341256BMPR2c.972T>G (p.His324Gln)
c.903T>G (p.His301Gln)
2g.202530799T>ACA350341260BMPR2c.973T>A (p.Tyr325Asn)
c.904T>A (p.Tyr302Asn)
2g.202530799T>CCA350341262BMPR2c.973T>C (p.Tyr325His)
c.904T>C (p.Tyr302His)
2g.202530799T>GCA350341259BMPR2c.973T>G (p.Tyr325Asp)
c.904T>G (p.Tyr302Asp)
2g.202530800A=CA1321544891BMPR2c.974A= (p.Tyr325=)
c.905A= (p.Tyr302=)
2g.202530800A>CCA350341266BMPR2c.974A>C (p.Tyr325Ser)
c.905A>C (p.Tyr302Ser)
2g.202530800A>GCA350341265BMPR2c.974A>G (p.Tyr325Cys)
c.905A>G (p.Tyr302Cys)
2g.202530800A>TCA2061270BMPR2c.974A>T (p.Tyr325Phe)
c.905A>T (p.Tyr302Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530801T>ACA350341269BMPR2c.975T>A (p.Tyr325Ter)
c.906T>A (p.Tyr302Ter)
2g.202530801T>CCA430847226BMPR2c.975T>C (p.Tyr325=)
c.906T>C (p.Tyr302=)
2g.202530801T>GCA350341271BMPR2c.975T>G (p.Tyr325Ter)
c.906T>G (p.Tyr302Ter)
2g.202530802A>CCA350341274BMPR2c.976A>C (p.Lys326Gln)
c.907A>C (p.Lys303Gln)
2g.202530802A>GCA350341275BMPR2c.976A>G (p.Lys326Glu)
c.907A>G (p.Lys303Glu)
2g.202530802A>TCA350341277BMPR2c.976A>T (p.Lys326Ter)
c.907A>T (p.Lys303Ter)
2g.202530804delCA2580065460BMPR2c.978del (p.Lys326AsnfsTer9)
c.909del (p.Lys303AsnfsTer9)
ClinVar
2g.202530803A>CCA350341280BMPR2c.977A>C (p.Lys326Thr)
c.908A>C (p.Lys303Thr)
COSMIC
2g.202530803A>GCA350341281BMPR2c.977A>G (p.Lys326Arg)
c.908A>G (p.Lys303Arg)
2g.202530803A>TCA350341283BMPR2c.977A>T (p.Lys326Ile)
c.908A>T (p.Lys303Ile)
2g.202530804A>CCA350341286BMPR2c.978A>C (p.Lys326Asn)
c.909A>C (p.Lys303Asn)
2g.202530804A>GCA430847249BMPR2c.978A>G (p.Lys326=)
c.909A>G (p.Lys303=)
2g.202530804A>TCA350341288BMPR2c.978A>T (p.Lys326Asn)
c.909A>T (p.Lys303Asn)
2g.202530804_202530805delinsACCA1321544892BMPR2c.978_979delinsAC (p.Lys326=)
c.909_910delinsAC (p.Lys303=)
2g.202530805C>ACA350341290BMPR2c.979C>A (p.Pro327Thr)
c.910C>A (p.Pro304Thr)
2g.202530805C>GCA350341292BMPR2c.979C>G (p.Pro327Ala)
c.910C>G (p.Pro304Ala)
2g.202530805C>TCA350341293BMPR2c.979C>T (p.Pro327Ser)
c.910C>T (p.Pro304Ser)
gnomAD v4
2g.202530806delCA645293970BMPR2c.980del (p.Pro327LeufsTer8)
c.911del (p.Pro304LeufsTer8)
ClinVar dbSNP
2g.202530806C>ACA350341299BMPR2c.980C>A (p.Pro327His)
c.911C>A (p.Pro304His)
2g.202530806C>GCA350341296BMPR2c.980C>G (p.Pro327Arg)
c.911C>G (p.Pro304Arg)
2g.202530806C>TCA350341298BMPR2c.980C>T (p.Pro327Leu)
c.911C>T (p.Pro304Leu)
2g.202530807T>ACA430847271BMPR2c.981T>A (p.Pro327=)
c.912T>A (p.Pro304=)
2g.202530807T>CCA2061271BMPR2c.981T>C (p.Pro327=)
c.912T>C (p.Pro304=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202530807T>GCA430847268BMPR2c.981T>G (p.Pro327=)
c.912T>G (p.Pro304=)
2g.202530807T=CA1321544893BMPR2c.981T= (p.Pro327=)
c.912T= (p.Pro304=)
2g.202530808G>ACA350341300BMPR2c.982G>A (p.Ala328Thr)
c.913G>A (p.Ala305Thr)
2g.202530808G>CCA350341301BMPR2c.982G>C (p.Ala328Pro)
c.913G>C (p.Ala305Pro)
2g.202530808G>TCA350341302BMPR2c.982G>T (p.Ala328Ser)
c.913G>T (p.Ala305Ser)
2g.202530809C>ACA350341303BMPR2c.983C>A (p.Ala328Glu)
c.914C>A (p.Ala305Glu)
2g.202530809C=CA1321544894BMPR2c.983C= (p.Ala328=)
c.914C= (p.Ala305=)
2g.202530809C>GCA350341304BMPR2c.983C>G (p.Ala328Gly)
c.914C>G (p.Ala305Gly)
2g.202530809C>TCA64023300BMPR2c.983C>T (p.Ala328Val)
c.914C>T (p.Ala305Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202530810A=CA1321544895BMPR2c.984A= (p.Ala328=)
c.915A= (p.Ala305=)
2g.202530810A>CCA2061272BMPR2c.984A>C (p.Ala328=)
c.915A>C (p.Ala305=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530810A>GCA430847291BMPR2c.984A>G (p.Ala328=)
c.915A>G (p.Ala305=)
2g.202530810A>TCA430847296BMPR2c.984A>T (p.Ala328=)
c.915A>T (p.Ala305=)
2g.202530811delCA2739292324BMPR2c.985del (p.Ile329PhefsTer6)
c.916del (p.Ile306PhefsTer6)
2g.202530811A=CA1321544896BMPR2c.985A= (p.Ile329=)
c.916A= (p.Ile306=)
2g.202530811A>CCA350341305BMPR2c.985A>C (p.Ile329Leu)
c.916A>C (p.Ile306Leu)
dbSNP gnomAD v4
2g.202530811A>GCA350341306BMPR2c.985A>G (p.Ile329Val)
c.916A>G (p.Ile306Val)
dbSNP gnomAD v2 gnomAD v4
2g.202530811A>TCA350341307BMPR2c.985A>T (p.Ile329Phe)
c.916A>T (p.Ile306Phe)
2g.202530812T>ACA350341310BMPR2c.986T>A (p.Ile329Asn)
c.917T>A (p.Ile306Asn)
2g.202530812T>CCA350341309BMPR2c.986T>C (p.Ile329Thr)
c.917T>C (p.Ile306Thr)
gnomAD v4
2g.202530812T>GCA350341308BMPR2c.986T>G (p.Ile329Ser)
c.917T>G (p.Ile306Ser)
2g.202530813T>ACA430847309BMPR2c.987T>A (p.Ile329=)
c.918T>A (p.Ile306=)
2g.202530813T>CCA430847313BMPR2c.987T>C (p.Ile329=)
c.918T>C (p.Ile306=)
2g.202530813T>GCA350341311BMPR2c.987T>G (p.Ile329Met)
c.918T>G (p.Ile306Met)
2g.202530814T>ACA350341312BMPR2c.988T>A (p.Ser330Thr)
c.919T>A (p.Ser307Thr)
2g.202530814T>CCA350341313BMPR2c.988T>C (p.Ser330Pro)
c.919T>C (p.Ser307Pro)
2g.202530814T>GCA350341314BMPR2c.988T>G (p.Ser330Ala)
c.919T>G (p.Ser307Ala)
2g.202530815C>ACA350341315BMPR2c.989C>A (p.Ser330Tyr)
c.920C>A (p.Ser307Tyr)
2g.202530815C>GCA350341316BMPR2c.989C>G (p.Ser330Cys)
c.920C>G (p.Ser307Cys)
2g.202530815C>TCA350341317BMPR2c.989C>T (p.Ser330Phe)
c.920C>T (p.Ser307Phe)
2g.202530816C>ACA430847323BMPR2c.990C>A (p.Ser330=)
c.921C>A (p.Ser307=)
2g.202530816C>GCA430847328BMPR2c.990C>G (p.Ser330=)
c.921C>G (p.Ser307=)
2g.202530816C>TCA430847332BMPR2c.990C>T (p.Ser330=)
c.921C>T (p.Ser307=)
gnomAD v4
2g.202530817C>ACA350341318BMPR2c.991C>A (p.His331Asn)
c.922C>A (p.His308Asn)
2g.202530817C>GCA350341319BMPR2c.991C>G (p.His331Asp)
c.922C>G (p.His308Asp)
2g.202530817C>TCA350341320BMPR2c.991C>T (p.His331Tyr)
c.922C>T (p.His308Tyr)
COSMIC
2g.202530818A=CA1321544897BMPR2c.992A= (p.His331=)
c.923A= (p.His308=)
2g.202530818A>CCA350341321BMPR2c.992A>C (p.His331Pro)
c.923A>C (p.His308Pro)
2g.202530818A>GCA350341322BMPR2c.992A>G (p.His331Arg)
c.923A>G (p.His308Arg)
ClinVar dbSNP
2g.202530818A>TCA350341323BMPR2c.992A>T (p.His331Leu)
c.923A>T (p.His308Leu)
2g.202530819T>ACA350341325BMPR2c.993T>A (p.His331Gln)
c.924T>A (p.His308Gln)
2g.202530819T>CCA430847348BMPR2c.993T>C (p.His331=)
c.924T>C (p.His308=)
gnomAD v4
2g.202530819T>GCA350341324BMPR2c.993T>G (p.His331Gln)
c.924T>G (p.His308Gln)
2g.202530820C>ACA430847350BMPR2c.994C>A (p.Arg332=)
c.925C>A (p.Arg309=)
2g.202530820C=CA1321544898BMPR2c.994C= (p.Arg332=)
c.925C= (p.Arg309=)
2g.202530820C>GCA350341326BMPR2c.994C>G (p.Arg332Gly)
c.925C>G (p.Arg309Gly)
2g.202530820C>TCA278095BMPR2c.994C>T (p.Arg332Ter)
c.925C>T (p.Arg309Ter)
ClinVar dbSNP gnomAD v4 COSMIC
2g.202530821G>ACA350341327BMPR2c.995G>A (p.Arg332Gln)
c.926G>A (p.Arg309Gln)
2g.202530821G>CCA350341328BMPR2c.995G>C (p.Arg332Pro)
c.926G>C (p.Arg309Pro)
ClinVar dbSNP
2g.202530821G>TCA350341329BMPR2c.995G>T (p.Arg332Leu)
c.926G>T (p.Arg309Leu)
2g.202530822A>CCA430847360BMPR2c.996A>C (p.Arg332=)
c.927A>C (p.Arg309=)
2g.202530822A>GCA430847363BMPR2c.996A>G (p.Arg332=)
c.927A>G (p.Arg309=)
2g.202530822A>TCA430847366BMPR2c.996A>T (p.Arg332=)
c.927A>T (p.Arg309=)
2g.202530823G>ACA350341330BMPR2c.997G>A (p.Asp333Asn)
c.928G>A (p.Asp310Asn)
2g.202530823G>CCA350341331BMPR2c.997G>C (p.Asp333His)
c.928G>C (p.Asp310His)
2g.202530823G>TCA350341332BMPR2c.997G>T (p.Asp333Tyr)
c.928G>T (p.Asp310Tyr)
2g.202530824A>CCA350341333BMPR2c.998A>C (p.Asp333Ala)
c.929A>C (p.Asp310Ala)
2g.202530824A>GCA350341334BMPR2c.998A>G (p.Asp333Gly)
c.929A>G (p.Asp310Gly)
2g.202530824A>TCA350341335BMPR2c.998A>T (p.Asp333Val)
c.929A>T (p.Asp310Val)
2g.202530825T>ACA350341336BMPR2c.999T>A (p.Asp333Glu)
c.930T>A (p.Asp310Glu)
2g.202530825T>CCA430847377BMPR2c.999T>C (p.Asp333=)
c.930T>C (p.Asp310=)
2g.202530825T>GCA350341337BMPR2c.999T>G (p.Asp333Glu)
c.930T>G (p.Asp310Glu)
2g.202530826T>ACA350341339BMPR2c.1000T>A (p.Leu334Ile)
c.931T>A (p.Leu311Ile)
gnomAD v4
2g.202530826T>CCA430847380BMPR2c.1000T>C (p.Leu334=)
c.931T>C (p.Leu311=)
2g.202530826T>GCA350341338BMPR2c.1000T>G (p.Leu334Val)
c.931T>G (p.Leu311Val)
2g.202530827T>ACA350341340BMPR2c.1001T>A (p.Leu334Ter)
c.932T>A (p.Leu311Ter)
2g.202530827T>CCA350341341BMPR2c.1001T>C (p.Leu334Ser)
c.932T>C (p.Leu311Ser)
2g.202530827T>GCA350341342BMPR2c.1001T>G (p.Leu334Ter)
c.932T>G (p.Leu311Ter)
ClinVar dbSNP
2g.202530827T=CA1321544899BMPR2c.1001T= (p.Leu334=)
c.932T= (p.Leu311=)
2g.202530828A>CCA350341343BMPR2c.1002A>C (p.Leu334Phe)
c.933A>C (p.Leu311Phe)
2g.202530828A>GCA430847393BMPR2c.1002A>G (p.Leu334=)
c.933A>G (p.Leu311=)
2g.202530828A>TCA350341344BMPR2c.1002A>T (p.Leu334Phe)
c.933A>T (p.Leu311Phe)
2g.202530829A>CCA350341345BMPR2c.1003A>C (p.Asn335His)
c.934A>C (p.Asn312His)
2g.202530829A>GCA350341346BMPR2c.1003A>G (p.Asn335Asp)
c.934A>G (p.Asn312Asp)
2g.202530829A>TCA350341347BMPR2c.1003A>T (p.Asn335Tyr)
c.934A>T (p.Asn312Tyr)
2g.202530830A=CA1321544900BMPR2c.1004A= (p.Asn335=)
c.935A= (p.Asn312=)
2g.202530830A>CCA350341348BMPR2c.1004A>C (p.Asn335Thr)
c.935A>C (p.Asn312Thr)
2g.202530830A>GCA64023320BMPR2c.1004A>G (p.Asn335Ser)
c.935A>G (p.Asn312Ser)
dbSNP gnomAD v4
2g.202530830A>TCA350341349BMPR2c.1004A>T (p.Asn335Ile)
c.935A>T (p.Asn312Ile)
2g.202530831C>ACA350341350BMPR2c.1005C>A (p.Asn335Lys)
c.936C>A (p.Asn312Lys)
dbSNP gnomAD v2 gnomAD v4
2g.202530831C=CA1321544901BMPR2c.1005C= (p.Asn335=)
c.936C= (p.Asn312=)
2g.202530831C>GCA350341351BMPR2c.1005C>G (p.Asn335Lys)
c.936C>G (p.Asn312Lys)
2g.202530831C>TCA430847416BMPR2c.1005C>T (p.Asn335=)
c.936C>T (p.Asn312=)
gnomAD v4
2g.202530832A=CA1321544902BMPR2c.1006A= (p.Ser336=)
c.937A= (p.Ser313=)
2g.202530832A>CCA350341352BMPR2c.1006A>C (p.Ser336Arg)
c.937A>C (p.Ser313Arg)
2g.202530832A>GCA2061273BMPR2c.1006A>G (p.Ser336Gly)
c.937A>G (p.Ser313Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530832A>TCA350341353BMPR2c.1006A>T (p.Ser336Cys)
c.937A>T (p.Ser313Cys)
2g.202530833G>ACA350341354BMPR2c.1007G>A (p.Ser336Asn)
c.938G>A (p.Ser313Asn)
2g.202530833G>CCA350341356BMPR2c.1007G>C (p.Ser336Thr)
c.938G>C (p.Ser313Thr)
2g.202530833G>TCA350341355BMPR2c.1007G>T (p.Ser336Ile)
c.938G>T (p.Ser313Ile)
2g.202530834C>ACA350341357BMPR2c.1008C>A (p.Ser336Arg)
c.939C>A (p.Ser313Arg)
2g.202530834C=CA1321544903BMPR2c.1008C= (p.Ser336=)
c.939C= (p.Ser313=)
2g.202530834C>GCA350341358BMPR2c.1008C>G (p.Ser336Arg)
c.939C>G (p.Ser313Arg)
2g.202530834C>TCA430847434BMPR2c.1008C>T (p.Ser336=)
c.939C>T (p.Ser313=)
dbSNP gnomAD v3 gnomAD v4
2g.202530835A>CCA430847439BMPR2c.1009A>C (p.Arg337=)
c.940A>C (p.Arg314=)
gnomAD v4
2g.202530835A>GCA350341359BMPR2c.1009A>G (p.Arg337Gly)
c.940A>G (p.Arg314Gly)
2g.202530835A>TCA350341360BMPR2c.1009A>T (p.Arg337Ter)
c.940A>T (p.Arg314Ter)
2g.202530835_202530840delinsAGAAATCA1321544904BMPR2c.1009_1014delinsAGAAAT (p.Arg337=)
c.940_945delinsAGAAAT (p.Arg314=)
2g.202530836G>ACA350341361BMPR2c.1010G>A (p.Arg337Lys)
c.941G>A (p.Arg314Lys)
COSMIC
2g.202530836G>CCA350341362BMPR2c.1010G>C (p.Arg337Thr)
c.941G>C (p.Arg314Thr)
2g.202530836G>TCA350341363BMPR2c.1010G>T (p.Arg337Ile)
c.941G>T (p.Arg314Ile)
COSMIC
2g.202530837_202530841delCA645293971BMPR2c.1011_1015del (p.Arg337SerfsTer6)
c.942_946del (p.Arg314SerfsTer6)
ClinVar dbSNP
2g.202530837A=CA1321544905BMPR2c.1011A= (p.Arg337=)
c.942A= (p.Arg314=)
2g.202530837A>CCA350341364BMPR2c.1011A>C (p.Arg337Ser)
c.942A>C (p.Arg314Ser)
2g.202530837A>GCA430847447BMPR2c.1011A>G (p.Arg337=)
c.942A>G (p.Arg314=)
2g.202530837A>TCA2061274BMPR2c.1011A>T (p.Arg337Ser)
c.942A>T (p.Arg314Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530838A>CCA350341365BMPR2c.1012A>C (p.Asn338His)
c.943A>C (p.Asn315His)
2g.202530838A>GCA350341366BMPR2c.1012A>G (p.Asn338Asp)
c.943A>G (p.Asn315Asp)
2g.202530838A>TCA350341367BMPR2c.1012A>T (p.Asn338Tyr)
c.943A>T (p.Asn315Tyr)
2g.202530839A>CCA350341368BMPR2c.1013A>C (p.Asn338Thr)
c.944A>C (p.Asn315Thr)
2g.202530839A>GCA350341370BMPR2c.1013A>G (p.Asn338Ser)
c.944A>G (p.Asn315Ser)
2g.202530839A>TCA350341369BMPR2c.1013A>T (p.Asn338Ile)
c.944A>T (p.Asn315Ile)
2g.202530840T>ACA350341371BMPR2c.1014T>A (p.Asn338Lys)
c.945T>A (p.Asn315Lys)
2g.202530840T>CCA430847461BMPR2c.1014T>C (p.Asn338=)
c.945T>C (p.Asn315=)
gnomAD v4
2g.202530840T>GCA350341372BMPR2c.1014T>G (p.Asn338Lys)
c.945T>G (p.Asn315Lys)
2g.202530841G>ACA350341373BMPR2c.1015G>A (p.Val339Ile)
c.946G>A (p.Val316Ile)
2g.202530841G>CCA350341374BMPR2c.1015G>C (p.Val339Leu)
c.946G>C (p.Val316Leu)
2g.202530841G>TCA350341375BMPR2c.1015G>T (p.Val339Phe)
c.946G>T (p.Val316Phe)
2g.202530842T>ACA350341378BMPR2c.1016T>A (p.Val339Asp)
c.947T>A (p.Val316Asp)
ClinVar dbSNP
2g.202530842T>CCA350341377BMPR2c.1016T>C (p.Val339Ala)
c.947T>C (p.Val316Ala)
2g.202530842T>GCA350341376BMPR2c.1016T>G (p.Val339Gly)
c.947T>G (p.Val316Gly)
2g.202530842T=CA1321544906BMPR2c.1016T= (p.Val339=)
c.947T= (p.Val316=)
2g.202530843C>ACA430847474BMPR2c.1017C>A (p.Val339=)
c.948C>A (p.Val316=)
2g.202530843C=CA1321544907BMPR2c.1017C= (p.Val339=)
c.948C= (p.Val316=)
2g.202530843C>GCA430847476BMPR2c.1017C>G (p.Val339=)
c.948C>G (p.Val316=)
2g.202530843C>TCA2061275BMPR2c.1017C>T (p.Val339=)
c.948C>T (p.Val316=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530844C>ACA350341379BMPR2c.1018C>A (p.Leu340Ile)
c.949C>A (p.Leu317Ile)
dbSNP
2g.202530844C=CA1321544908BMPR2c.1018C= (p.Leu340=)
c.949C= (p.Leu317=)
2g.202530844C>GCA350341380BMPR2c.1018C>G (p.Leu340Val)
c.949C>G (p.Leu317Val)
2g.202530844C>TCA430847482BMPR2c.1018C>T (p.Leu340=)
c.949C>T (p.Leu317=)
COSMIC
2g.202530845T>ACA350341381BMPR2c.1019T>A (p.Leu340Gln)
c.950T>A (p.Leu317Gln)
COSMIC
2g.202530845T>CCA350341382BMPR2c.1019T>C (p.Leu340Pro)
c.950T>C (p.Leu317Pro)
ClinVar dbSNP
2g.202530845T>GCA350341383BMPR2c.1019T>G (p.Leu340Arg)
c.950T>G (p.Leu317Arg)
2g.202530845T=CA1321544909BMPR2c.1019T= (p.Leu340=)
c.950T= (p.Leu317=)
2g.202530846A=CA1321544910BMPR2c.1020A= (p.Leu340=)
c.951A= (p.Leu317=)
2g.202530846A>CCA430847495BMPR2c.1020A>C (p.Leu340=)
c.951A>C (p.Leu317=)
dbSNP
2g.202530846A>GCA430847497BMPR2c.1020A>G (p.Leu340=)
c.951A>G (p.Leu317=)
2g.202530846A>TCA430847500BMPR2c.1020A>T (p.Leu340=)
c.951A>T (p.Leu317=)
2g.202530847G>ACA2061276BMPR2c.1021G>A (p.Val341Met)
c.952G>A (p.Val318Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530847G>CCA350341385BMPR2c.1021G>C (p.Val341Leu)
c.952G>C (p.Val318Leu)
gnomAD v4
2g.202530847G=CA1321544911BMPR2c.1021G= (p.Val341=)
c.952G= (p.Val318=)
2g.202530847G>TCA350341384BMPR2c.1021G>T (p.Val341Leu)
c.952G>T (p.Val318Leu)
2g.202530848T>ACA350341386BMPR2c.1022T>A (p.Val341Glu)
c.953T>A (p.Val318Glu)
2g.202530848T>CCA350341387BMPR2c.1022T>C (p.Val341Ala)
c.953T>C (p.Val318Ala)
2g.202530848T>GCA350341388BMPR2c.1022T>G (p.Val341Gly)
c.953T>G (p.Val318Gly)
2g.202530849G>ACA430847517BMPR2c.1023G>A (p.Val341=)
c.954G>A (p.Val318=)
2g.202530849G>CCA430847520BMPR2c.1023G>C (p.Val341=)
c.954G>C (p.Val318=)
ClinVar
2g.202530849G>TCA430847522BMPR2c.1023G>T (p.Val341=)
c.954G>T (p.Val318=)
2g.202530849_202530850delinsGACA1321544912BMPR2c.1023_1024delinsGA (p.Val341=)
c.954_955delinsGA (p.Val318=)
2g.202530850A>CCA350341389BMPR2c.1024A>C (p.Lys342Gln)
c.955A>C (p.Lys319Gln)
2g.202530850A>GCA350341390BMPR2c.1024A>G (p.Lys342Glu)
c.955A>G (p.Lys319Glu)
2g.202530850A>TCA350341391BMPR2c.1024A>T (p.Lys342Ter)
c.955A>T (p.Lys319Ter)
2g.202530854dupCA645532633BMPR2c.1028dup (p.Asn343LysfsTer2)
c.959dup (p.Asn320LysfsTer2)
ClinVar dbSNP COSMIC
2g.202530854delCA1139657614BMPR2c.1028del (p.Asn343MetfsTer14)
c.959del (p.Asn320MetfsTer14)
ClinVar dbSNP gnomAD v4

Number of alleles fetched