Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518901T>ACA350340306BMPR2c.701T>A (p.Phe234Tyr)
c.632T>A (p.Phe211Tyr)
2g.202518901T>CCA350340308BMPR2c.701T>C (p.Phe234Ser)
c.632T>C (p.Phe211Ser)
2g.202518901T>GCA350340310BMPR2c.701T>G (p.Phe234Cys)
c.632T>G (p.Phe211Cys)
2g.202518902T>ACA350340311BMPR2c.702T>A (p.Phe234Leu)
c.633T>A (p.Phe211Leu)
2g.202518902T>CCA2061190BMPR2c.702T>C (p.Phe234=)
c.633T>C (p.Phe211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518902T>GCA350340315BMPR2c.702T>G (p.Phe234Leu)
c.633T>G (p.Phe211Leu)
2g.202518902T=CA1321539687BMPR2c.702T= (p.Phe234=)
c.633T= (p.Phe211=)
2g.202518903G>ACA350340316BMPR2c.703G>A (p.Ala235Thr)
c.634G>A (p.Ala212Thr)
 gnomAD v4
2g.202518903G>CCA350340318BMPR2c.703G>C (p.Ala235Pro)
c.634G>C (p.Ala212Pro)
2g.202518903G>TCA350340320BMPR2c.703G>T (p.Ala235Ser)
c.634G>T (p.Ala212Ser)
2g.202518904C>ACA350340323BMPR2c.704C>A (p.Ala235Glu)
c.635C>A (p.Ala212Glu)
2g.202518904C>GCA350340322BMPR2c.704C>G (p.Ala235Gly)
c.635C>G (p.Ala212Gly)
2g.202518904C>TCA350340321BMPR2c.704C>T (p.Ala235Val)
c.635C>T (p.Ala212Val)
 gnomAD v4
2g.202518905A>CCA430839026BMPR2c.705A>C (p.Ala235=)
c.636A>C (p.Ala212=)
2g.202518905A>GCA430839029BMPR2c.705A>G (p.Ala235=)
c.636A>G (p.Ala212=)
 gnomAD v4
2g.202518905A>TCA430839031BMPR2c.705A>T (p.Ala235=)
c.636A>T (p.Ala212=)
2g.202518907delCA2586971011BMPR2c.707del (p.Asn236ThrfsTer16)
c.638del (p.Asn213ThrfsTer16)
2g.202518906A>CCA350340324BMPR2c.706A>C (p.Asn236His)
c.637A>C (p.Asn213His)
2g.202518906A>GCA350340326BMPR2c.706A>G (p.Asn236Asp)
c.637A>G (p.Asn213Asp)
2g.202518906A>TCA350340325BMPR2c.706A>T (p.Asn236Tyr)
c.637A>T (p.Asn213Tyr)
2g.202518907A>CCA350340327BMPR2c.707A>C (p.Asn236Thr)
c.638A>C (p.Asn213Thr)
2g.202518907A>GCA350340328BMPR2c.707A>G (p.Asn236Ser)
c.638A>G (p.Asn213Ser)
2g.202518907A>TCA350340329BMPR2c.707A>T (p.Asn236Ile)
c.638A>T (p.Asn213Ile)
2g.202518908C>ACA350340330BMPR2c.708C>A (p.Asn236Lys)
c.639C>A (p.Asn213Lys)
2g.202518908C=CA1321539688BMPR2c.708C= (p.Asn236=)
c.639C= (p.Asn213=)
2g.202518908C>GCA350340331BMPR2c.708C>G (p.Asn236Lys)
c.639C>G (p.Asn213Lys)
2g.202518908C>TCA10613905BMPR2c.708C>T (p.Asn236=)
c.639C>T (p.Asn213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518909C>ACA350340332BMPR2c.709C>A (p.Arg237Ser)
c.640C>A (p.Arg214Ser)
2g.202518909C=CA1321539689BMPR2c.709C= (p.Arg237=)
c.640C= (p.Arg214=)
2g.202518909C>GCA350340333BMPR2c.709C>G (p.Arg237Gly)
c.640C>G (p.Arg214Gly)
2g.202518909C>TCA2061191BMPR2c.709C>T (p.Arg237Cys)
c.640C>T (p.Arg214Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518910G>ACA2061192BMPR2c.710G>A (p.Arg237His)
c.641G>A (p.Arg214His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518910G>CCA350340334BMPR2c.710G>C (p.Arg237Pro)
c.641G>C (p.Arg214Pro)
 dbSNP
2g.202518910G=CA1321539690BMPR2c.710G= (p.Arg237=)
c.641G= (p.Arg214=)
2g.202518910G>TCA350340335BMPR2c.710G>T (p.Arg237Leu)
c.641G>T (p.Arg214Leu)
 dbSNP
2g.202518911T>ACA430839064BMPR2c.711T>A (p.Arg237=)
c.642T>A (p.Arg214=)
2g.202518911T>CCA2061193BMPR2c.711T>C (p.Arg237=)
c.642T>C (p.Arg214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518911T>GCA430839070BMPR2c.711T>G (p.Arg237=)
c.642T>G (p.Arg214=)
2g.202518911T=CA1321539691BMPR2c.711T= (p.Arg237=)
c.642T= (p.Arg214=)
2g.202518912C>ACA350340336BMPR2c.712C>A (p.Gln238Lys)
c.643C>A (p.Gln215Lys)
2g.202518912C=CA1321539692BMPR2c.712C= (p.Gln238=)
c.643C= (p.Gln215=)
2g.202518912C>GCA350340337BMPR2c.712C>G (p.Gln238Glu)
c.643C>G (p.Gln215Glu)
2g.202518912C>TCA350340338BMPR2c.712C>T (p.Gln238Ter)
c.643C>T (p.Gln215Ter)
 ClinVar dbSNP
2g.202518913A>CCA350340339BMPR2c.713A>C (p.Gln238Pro)
c.644A>C (p.Gln215Pro)
2g.202518913A>GCA350340340BMPR2c.713A>G (p.Gln238Arg)
c.644A>G (p.Gln215Arg)
2g.202518913A>TCA350340341BMPR2c.713A>T (p.Gln238Leu)
c.644A>T (p.Gln215Leu)
2g.202518914_202518915delCA2586971013BMPR2c.714_715del (p.Asn239PhefsTer16)
c.645_646del (p.Asn216PhefsTer16)
2g.202518914G>ACA430839082BMPR2c.714G>A (p.Gln238=)
c.645G>A (p.Gln215=)
 COSMIC
2g.202518914G>CCA350340342BMPR2c.714G>C (p.Gln238His)
c.645G>C (p.Gln215His)
2g.202518914G>TCA350340343BMPR2c.714G>T (p.Gln238His)
c.645G>T (p.Gln215His)
2g.202518915A>CCA350340344BMPR2c.715A>C (p.Asn239His)
c.646A>C (p.Asn216His)
2g.202518915A>GCA350340345BMPR2c.715A>G (p.Asn239Asp)
c.646A>G (p.Asn216Asp)
2g.202518915A>TCA350340346BMPR2c.715A>T (p.Asn239Tyr)
c.646A>T (p.Asn216Tyr)
2g.202518916A>CCA350340347BMPR2c.716A>C (p.Asn239Thr)
c.647A>C (p.Asn216Thr)
2g.202518916A>GCA350340348BMPR2c.716A>G (p.Asn239Ser)
c.647A>G (p.Asn216Ser)
2g.202518916A>TCA350340349BMPR2c.716A>T (p.Asn239Ile)
c.647A>T (p.Asn216Ile)
2g.202518917T>ACA350340351BMPR2c.717T>A (p.Asn239Lys)
c.648T>A (p.Asn216Lys)
2g.202518917T>CCA430839476BMPR2c.717T>C (p.Asn239=)
c.648T>C (p.Asn216=)
 gnomAD v4
2g.202518917T>GCA350340350BMPR2c.717T>G (p.Asn239Lys)
c.648T>G (p.Asn216Lys)
2g.202518918T>ACA350340352BMPR2c.718T>A (p.Phe240Ile)
c.649T>A (p.Phe217Ile)
2g.202518918T>CCA350340354BMPR2c.718T>C (p.Phe240Leu)
c.649T>C (p.Phe217Leu)
2g.202518918T>GCA350340353BMPR2c.718T>G (p.Phe240Val)
c.649T>G (p.Phe217Val)
2g.202518919T>ACA350340355BMPR2c.719T>A (p.Phe240Tyr)
c.650T>A (p.Phe217Tyr)
2g.202518919T>CCA350340356BMPR2c.719T>C (p.Phe240Ser)
c.650T>C (p.Phe217Ser)
2g.202518919T>GCA350340357BMPR2c.719T>G (p.Phe240Cys)
c.650T>G (p.Phe217Cys)
 gnomAD v4
2g.202518920T>ACA350340358BMPR2c.720T>A (p.Phe240Leu)
c.651T>A (p.Phe217Leu)
2g.202518920T>CCA430839485BMPR2c.720T>C (p.Phe240=)
c.651T>C (p.Phe217=)
 dbSNP gnomAD v4
2g.202518920T>GCA350340359BMPR2c.720T>G (p.Phe240Leu)
c.651T>G (p.Phe217Leu)
2g.202518920T=CA1321539693BMPR2c.720T= (p.Phe240=)
c.651T= (p.Phe217=)
2g.202518921A>CCA350340360BMPR2c.721A>C (p.Ile241Leu)
c.652A>C (p.Ile218Leu)
2g.202518921A>GCA350340361BMPR2c.721A>G (p.Ile241Val)
c.652A>G (p.Ile218Val)
2g.202518921A>TCA350340362BMPR2c.721A>T (p.Ile241Phe)
c.652A>T (p.Ile218Phe)
2g.202518922T>ACA350340363BMPR2c.722T>A (p.Ile241Asn)
c.653T>A (p.Ile218Asn)
2g.202518922T>CCA350340365BMPR2c.722T>C (p.Ile241Thr)
c.653T>C (p.Ile218Thr)
2g.202518922T>GCA350340364BMPR2c.722T>G (p.Ile241Ser)
c.653T>G (p.Ile218Ser)
2g.202518923C>ACA430839498BMPR2c.723C>A (p.Ile241=)
c.654C>A (p.Ile218=)
2g.202518923C>GCA350340366BMPR2c.723C>G (p.Ile241Met)
c.654C>G (p.Ile218Met)
2g.202518923C>TCA430839502BMPR2c.723C>T (p.Ile241=)
c.654C>T (p.Ile218=)
2g.202518924A>CCA350340367BMPR2c.724A>C (p.Asn242His)
c.655A>C (p.Asn219His)
2g.202518924A>GCA350340368BMPR2c.724A>G (p.Asn242Asp)
c.655A>G (p.Asn219Asp)
2g.202518924A>TCA350340369BMPR2c.724A>T (p.Asn242Tyr)
c.655A>T (p.Asn219Tyr)
2g.202518925A=CA1321539694BMPR2c.725A= (p.Asn242=)
c.656A= (p.Asn219=)
2g.202518925A>CCA350340370BMPR2c.725A>C (p.Asn242Thr)
c.656A>C (p.Asn219Thr)
2g.202518925A>GCA2061194BMPR2c.725A>G (p.Asn242Ser)
c.656A>G (p.Asn219Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518925A>TCA350340371BMPR2c.725A>T (p.Asn242Ile)
c.656A>T (p.Asn219Ile)
2g.202518926C>ACA350340372BMPR2c.726C>A (p.Asn242Lys)
c.657C>A (p.Asn219Lys)
2g.202518926C=CA1321539695BMPR2c.726C= (p.Asn242=)
c.657C= (p.Asn219=)
2g.202518926C>GCA350340373BMPR2c.726C>G (p.Asn242Lys)
c.657C>G (p.Asn219Lys)
2g.202518926C>TCA2061195BMPR2c.726C>T (p.Asn242=)
c.657C>T (p.Asn219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202518927G>ACA350340374BMPR2c.727G>A (p.Glu243Lys)
c.658G>A (p.Glu220Lys)
 ClinVar dbSNP gnomAD v4
2g.202518927G>CCA350340375BMPR2c.727G>C (p.Glu243Gln)
c.658G>C (p.Glu220Gln)
 ClinVar dbSNP
2g.202518927G=CA1321539696BMPR2c.727G= (p.Glu243=)
c.658G= (p.Glu220=)
2g.202518927G>TCA350340376BMPR2c.727G>T (p.Glu243Ter)
c.658G>T (p.Glu220Ter)
 ClinVar dbSNP
2g.202518928A>CCA350340377BMPR2c.728A>C (p.Glu243Ala)
c.659A>C (p.Glu220Ala)
2g.202518928A>GCA350340378BMPR2c.728A>G (p.Glu243Gly)
c.659A>G (p.Glu220Gly)
2g.202518928A>TCA350340379BMPR2c.728A>T (p.Glu243Val)
c.659A>T (p.Glu220Val)
2g.202518931delCA2586965530BMPR2c.731del (p.Lys244ArgfsTer8)
c.662del (p.Lys221ArgfsTer8)
2g.202518929A>CCA350340380BMPR2c.729A>C (p.Glu243Asp)
c.660A>C (p.Glu220Asp)
2g.202518929A>GCA430839526BMPR2c.729A>G (p.Glu243=)
c.660A>G (p.Glu220=)
2g.202518929A>TCA350340381BMPR2c.729A>T (p.Glu243Asp)
c.660A>T (p.Glu220Asp)
2g.202518930A>CCA350340382BMPR2c.730A>C (p.Lys244Gln)
c.661A>C (p.Lys221Gln)
2g.202518930A>GCA350340384BMPR2c.730A>G (p.Lys244Glu)
c.661A>G (p.Lys221Glu)
2g.202518930A>TCA350340383BMPR2c.730A>T (p.Lys244Ter)
c.661A>T (p.Lys221Ter)
2g.202518931A>CCA350340385BMPR2c.731A>C (p.Lys244Thr)
c.662A>C (p.Lys221Thr)
2g.202518931A>GCA350340386BMPR2c.731A>G (p.Lys244Arg)
c.662A>G (p.Lys221Arg)
2g.202518931A>TCA350340387BMPR2c.731A>T (p.Lys244Met)
c.662A>T (p.Lys221Met)
2g.202518932G>ACA2061196BMPR2c.732G>A (p.Lys244=)
c.663G>A (p.Lys221=)
 dbSNP ExAC
2g.202518932G>CCA350340388BMPR2c.732G>C (p.Lys244Asn)
c.663G>C (p.Lys221Asn)
2g.202518932G=CA1321539697BMPR2c.732G= (p.Lys244=)
c.663G= (p.Lys221=)
2g.202518932G>TCA350340389BMPR2c.732G>T (p.Lys244Asn)
c.663G>T (p.Lys221Asn)
2g.202518933A>CCA350340390BMPR2c.733A>C (p.Asn245His)
c.664A>C (p.Asn222His)
2g.202518933A>GCA350340391BMPR2c.733A>G (p.Asn245Asp)
c.664A>G (p.Asn222Asp)
2g.202518933A>TCA350340392BMPR2c.733A>T (p.Asn245Tyr)
c.664A>T (p.Asn222Tyr)
2g.202518934A>CCA350340393BMPR2c.734A>C (p.Asn245Thr)
c.665A>C (p.Asn222Thr)
2g.202518934A>GCA350340394BMPR2c.734A>G (p.Asn245Ser)
c.665A>G (p.Asn222Ser)
2g.202518934A>TCA350340395BMPR2c.734A>T (p.Asn245Ile)
c.665A>T (p.Asn222Ile)
2g.202518935C>ACA350340397BMPR2c.735C>A (p.Asn245Lys)
c.666C>A (p.Asn222Lys)
 dbSNP
2g.202518935C=CA1321539698BMPR2c.735C= (p.Asn245=)
c.666C= (p.Asn222=)
2g.202518935C>GCA350340396BMPR2c.735C>G (p.Asn245Lys)
c.666C>G (p.Asn222Lys)
2g.202518935C>TCA430839551BMPR2c.735C>T (p.Asn245=)
c.666C>T (p.Asn222=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518936A>CCA350340398BMPR2c.736A>C (p.Ile246Leu)
c.667A>C (p.Ile223Leu)
2g.202518936A>GCA350340399BMPR2c.736A>G (p.Ile246Val)
c.667A>G (p.Ile223Val)
2g.202518936A>TCA350340400BMPR2c.736A>T (p.Ile246Phe)
c.667A>T (p.Ile223Phe)
2g.202518936_202518937insATCAAACA430839557BMPR2c.736_737insATCAAA (p.Asn245_Ile246insAsnGln)
c.667_668insATCAAA (p.Asn222_Ile223insAsnGln)
2g.202518937T>ACA64015784BMPR2c.737T>A (p.Ile246Asn)
c.668T>A (p.Ile223Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.202518937T>CCA2061197BMPR2c.737T>C (p.Ile246Thr)
c.668T>C (p.Ile223Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518937T>GCA350340401BMPR2c.737T>G (p.Ile246Ser)
c.668T>G (p.Ile223Ser)
2g.202518937T=CA1321539699BMPR2c.737T= (p.Ile246=)
c.668T= (p.Ile223=)
2g.202518939delCA2662705631BMPR2c.739del (p.Tyr247ThrfsTer5)
c.670del (p.Tyr224ThrfsTer5)
 gnomAD v4
2g.202518938T>ACA430839564BMPR2c.738T>A (p.Ile246=)
c.669T>A (p.Ile223=)
2g.202518938T>CCA430839566BMPR2c.738T>C (p.Ile246=)
c.669T>C (p.Ile223=)
2g.202518938T>GCA350340402BMPR2c.738T>G (p.Ile246Met)
c.669T>G (p.Ile223Met)
2g.202518939T>ACA350340403BMPR2c.739T>A (p.Tyr247Asn)
c.670T>A (p.Tyr224Asn)
2g.202518939T>CCA350340404BMPR2c.739T>C (p.Tyr247His)
c.670T>C (p.Tyr224His)
2g.202518939T>GCA350340405BMPR2c.739T>G (p.Tyr247Asp)
c.670T>G (p.Tyr224Asp)
2g.202518940A>CCA350340406BMPR2c.740A>C (p.Tyr247Ser)
c.671A>C (p.Tyr224Ser)
2g.202518940A>GCA350340407BMPR2c.740A>G (p.Tyr247Cys)
c.671A>G (p.Tyr224Cys)
2g.202518940A>TCA350340408BMPR2c.740A>T (p.Tyr247Phe)
c.671A>T (p.Tyr224Phe)
2g.202518941C>ACA350340410BMPR2c.741C>A (p.Tyr247Ter)
c.672C>A (p.Tyr224Ter)
2g.202518941C=CA1321539700BMPR2c.741C= (p.Tyr247=)
c.672C= (p.Tyr224=)
2g.202518941C>GCA350340409BMPR2c.741C>G (p.Tyr247Ter)
c.672C>G (p.Tyr224Ter)
2g.202518941C>TCA430839583BMPR2c.741C>T (p.Tyr247=)
c.672C>T (p.Tyr224=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518942A>CCA430839585BMPR2c.742A>C (p.Arg248=)
c.673A>C (p.Arg225=)
2g.202518942A>GCA350340411BMPR2c.742A>G (p.Arg248Gly)
c.673A>G (p.Arg225Gly)
2g.202518942A>TCA350340412BMPR2c.742A>T (p.Arg248Ter)
c.673A>T (p.Arg225Ter)
2g.202518943G>ACA350340413BMPR2c.743G>A (p.Arg248Lys)
c.674G>A (p.Arg225Lys)
2g.202518943G>CCA350340414BMPR2c.743G>C (p.Arg248Thr)
c.674G>C (p.Arg225Thr)
2g.202518943G>TCA350340415BMPR2c.743G>T (p.Arg248Ile)
c.674G>T (p.Arg225Ile)
2g.202518944A>CCA350340416BMPR2c.744A>C (p.Arg248Ser)
c.675A>C (p.Arg225Ser)
2g.202518944A>GCA430839598BMPR2c.744A>G (p.Arg248=)
c.675A>G (p.Arg225=)
2g.202518944A>TCA350340417BMPR2c.744A>T (p.Arg248Ser)
c.675A>T (p.Arg225Ser)
 COSMIC
2g.202518945G>ACA350340418BMPR2c.745G>A (p.Val249Met)
c.676G>A (p.Val226Met)
2g.202518945G>CCA350340419BMPR2c.745G>C (p.Val249Leu)
c.676G>C (p.Val226Leu)
2g.202518945G>TCA350340420BMPR2c.745G>T (p.Val249Leu)
c.676G>T (p.Val226Leu)
2g.202518946T>ACA350340421BMPR2c.746T>A (p.Val249Glu)
c.677T>A (p.Val226Glu)
2g.202518946T>CCA350340422BMPR2c.746T>C (p.Val249Ala)
c.677T>C (p.Val226Ala)
 gnomAD v4
2g.202518946T>GCA350340423BMPR2c.746T>G (p.Val249Gly)
c.677T>G (p.Val226Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518946T=CA1321539701BMPR2c.746T= (p.Val249=)
c.677T= (p.Val226=)
2g.202518947G>ACA430839606BMPR2c.747G>A (p.Val249=)
c.678G>A (p.Val226=)
 gnomAD v4
2g.202518947G>CCA430839608BMPR2c.747G>C (p.Val249=)
c.678G>C (p.Val226=)
2g.202518947G=CA1321539702BMPR2c.747G= (p.Val249=)
c.678G= (p.Val226=)
2g.202518947G>TCA430839610BMPR2c.747G>T (p.Val249=)
c.678G>T (p.Val226=)
 dbSNP gnomAD v4
2g.202518948C>ACA350340424BMPR2c.748C>A (p.Pro250Thr)
c.679C>A (p.Pro227Thr)
2g.202518948C=CA1321539703BMPR2c.748C= (p.Pro250=)
c.679C= (p.Pro227=)
2g.202518948C>GCA2061198BMPR2c.748C>G (p.Pro250Ala)
c.679C>G (p.Pro227Ala)
 dbSNP ExAC gnomAD v2
2g.202518948C>TCA64015793BMPR2c.748C>T (p.Pro250Ser)
c.679C>T (p.Pro227Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518949_202518965dupCA2586965532BMPR2c.749_765dup (p.Asn256LeufsTer2)
c.680_696dup (p.Asn233LeufsTer2)
2g.202518948_202518949insTACAGCA2701463985BMPR2c.748_749insTACAG (p.Pro250LeufsTer4)
c.679_680insTACAG (p.Pro227LeufsTer4)
 dbSNP
2g.202518949C>ACA350340425BMPR2c.749C>A (p.Pro250His)
c.680C>A (p.Pro227His)
2g.202518949C=CA1321539705BMPR2c.749C= (p.Pro250=)
c.680C= (p.Pro227=)
2g.202518949C>GCA350340426BMPR2c.749C>G (p.Pro250Arg)
c.680C>G (p.Pro227Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.202518949C>TCA350340427BMPR2c.749C>T (p.Pro250Leu)
c.680C>T (p.Pro227Leu)
2g.202518949_202518950delinsCTCA1321539704BMPR2c.749_750delinsCT (p.Pro250=)
c.680_681delinsCT (p.Pro227=)
2g.202518950T>ACA430839622BMPR2c.750T>A (p.Pro250=)
c.681T>A (p.Pro227=)
2g.202518950T>CCA430839624BMPR2c.750T>C (p.Pro250=)
c.681T>C (p.Pro227=)
2g.202518950T>GCA430839620BMPR2c.750T>G (p.Pro250=)
c.681T>G (p.Pro227=)
2g.202518952delCA538972569BMPR2c.752del (p.Leu251Ter)
c.683del (p.Leu228Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.202518950_202518951insCTCTGCA2701464024BMPR2c.750_751insCTCTG (p.Met252CysfsTer2)
c.681_682insCTCTG (p.Met229CysfsTer2)
 dbSNP
2g.202518950_202518951insCTCTGTTGCTTACAGTTTATTCCACA2701464029BMPR2c.750_751insCTCTGTTGCTTACAGTTTATTCCA (p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro)
c.681_682insCTCTGTTGCTTACAGTTTATTCCA (p.Pro227_Leu228insLeuCysCysLeuGlnPheIlePro)
 dbSNP
2g.202518951T>ACA350340428BMPR2c.751T>A (p.Leu251Met)
c.682T>A (p.Leu228Met)
2g.202518951T>CCA430839627BMPR2c.751T>C (p.Leu251=)
c.682T>C (p.Leu228=)
 dbSNP
2g.202518951T>GCA350340429BMPR2c.751T>G (p.Leu251Val)
c.682T>G (p.Leu228Val)
2g.202518951T=CA1321539706BMPR2c.751T= (p.Leu251=)
c.682T= (p.Leu228=)
2g.202518952T>ACA350340430BMPR2c.752T>A (p.Leu251Ter)
c.683T>A (p.Leu228Ter)
2g.202518952T>CCA350340431BMPR2c.752T>C (p.Leu251Ser)
c.683T>C (p.Leu228Ser)
 dbSNP
2g.202518952T>GCA350340432BMPR2c.752T>G (p.Leu251Trp)
c.683T>G (p.Leu228Trp)
2g.202518953G>ACA430839634BMPR2c.753G>A (p.Leu251=)
c.684G>A (p.Leu228=)
 ClinVar dbSNP gnomAD v4
2g.202518953G>CCA350340433BMPR2c.753G>C (p.Leu251Phe)
c.684G>C (p.Leu228Phe)
2g.202518953G=CA1321539707BMPR2c.753G= (p.Leu251=)
c.684G= (p.Leu228=)
2g.202518953G>TCA350340434BMPR2c.753G>T (p.Leu251Phe)
c.684G>T (p.Leu228Phe)
2g.202518954A>CCA350340435BMPR2c.754A>C (p.Met252Leu)
c.685A>C (p.Met229Leu)
2g.202518954A>GCA350340436BMPR2c.754A>G (p.Met252Val)
c.685A>G (p.Met229Val)
2g.202518954A>TCA350340437BMPR2c.754A>T (p.Met252Leu)
c.685A>T (p.Met229Leu)
2g.202518955T>ACA350340440BMPR2c.755T>A (p.Met252Lys)
c.686T>A (p.Met229Lys)
2g.202518955T>CCA350340439BMPR2c.755T>C (p.Met252Thr)
c.686T>C (p.Met229Thr)
 gnomAD v4
2g.202518955T>GCA350340438BMPR2c.755T>G (p.Met252Arg)
c.686T>G (p.Met229Arg)
2g.202518956G>ACA350340443BMPR2c.756G>A (p.Met252Ile)
c.687G>A (p.Met229Ile)
2g.202518956G>CCA350340441BMPR2c.756G>C (p.Met252Ile)
c.687G>C (p.Met229Ile)
2g.202518956G>TCA350340442BMPR2c.756G>T (p.Met252Ile)
c.687G>T (p.Met229Ile)
2g.202518957G>ACA350340444BMPR2c.757G>A (p.Glu253Lys)
c.688G>A (p.Glu230Lys)
2g.202518957G>CCA350340445BMPR2c.757G>C (p.Glu253Gln)
c.688G>C (p.Glu230Gln)
 COSMIC
2g.202518957G>TCA350340446BMPR2c.757G>T (p.Glu253Ter)
c.688G>T (p.Glu230Ter)
2g.202518958A>CCA350340447BMPR2c.758A>C (p.Glu253Ala)
c.689A>C (p.Glu230Ala)
2g.202518958A>GCA350340448BMPR2c.758A>G (p.Glu253Gly)
c.689A>G (p.Glu230Gly)
2g.202518958A>TCA350340449BMPR2c.758A>T (p.Glu253Val)
c.689A>T (p.Glu230Val)
2g.202518959A>CCA350340450BMPR2c.759A>C (p.Glu253Asp)
c.690A>C (p.Glu230Asp)
2g.202518959A>GCA430839653BMPR2c.759A>G (p.Glu253=)
c.690A>G (p.Glu230=)
2g.202518959A>TCA350340451BMPR2c.759A>T (p.Glu253Asp)
c.690A>T (p.Glu230Asp)
2g.202518960C>ACA350340452BMPR2c.760C>A (p.His254Asn)
c.691C>A (p.His231Asn)
2g.202518960C=CA1321539708BMPR2c.760C= (p.His254=)
c.691C= (p.His231=)
2g.202518960C>GCA64015800BMPR2c.760C>G (p.His254Asp)
c.691C>G (p.His231Asp)
 dbSNP
2g.202518960C>TCA350340453BMPR2c.760C>T (p.His254Tyr)
c.691C>T (p.His231Tyr)
2g.202518960_202518962delinsCATCA1321539709BMPR2c.760_762delinsCAT (p.His254=)
c.691_693delinsCAT (p.His231=)
2g.202518961A=CA1321539710BMPR2c.761A= (p.His254=)
c.692A= (p.His231=)
2g.202518961A>CCA350340455BMPR2c.761A>C (p.His254Pro)
c.692A>C (p.His231Pro)
2g.202518961A>GCA2061199BMPR2c.761A>G (p.His254Arg)
c.692A>G (p.His231Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518961A>TCA350340454BMPR2c.761A>T (p.His254Leu)
c.692A>T (p.His231Leu)
2g.202518961_202518962delCA915941646BMPR2c.761_762del (p.His254ArgfsTer11)
c.692_693del (p.His231ArgfsTer11)
 ClinVar dbSNP
2g.202518962T>ACA350340456BMPR2c.762T>A (p.His254Gln)
c.693T>A (p.His231Gln)
2g.202518962T>CCA430839666BMPR2c.762T>C (p.His254=)
c.693T>C (p.His231=)
2g.202518962T>GCA350340457BMPR2c.762T>G (p.His254Gln)
c.693T>G (p.His231Gln)
 gnomAD v4
2g.202518963G>ACA2061200BMPR2c.763G>A (p.Asp255Asn)
c.694G>A (p.Asp232Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518963G>CCA350340458BMPR2c.763G>C (p.Asp255His)
c.694G>C (p.Asp232His)
2g.202518963G=CA1321539711BMPR2c.763G= (p.Asp255=)
c.694G= (p.Asp232=)
2g.202518963G>TCA350340459BMPR2c.763G>T (p.Asp255Tyr)
c.694G>T (p.Asp232Tyr)
2g.202518964A>CCA350340460BMPR2c.764A>C (p.Asp255Ala)
c.695A>C (p.Asp232Ala)
2g.202518964A>GCA350340461BMPR2c.764A>G (p.Asp255Gly)
c.695A>G (p.Asp232Gly)
2g.202518964A>TCA350340462BMPR2c.764A>T (p.Asp255Val)
c.695A>T (p.Asp232Val)
2g.202518965C>ACA350340463BMPR2c.765C>A (p.Asp255Glu)
c.696C>A (p.Asp232Glu)
2g.202518965C=CA1321539712BMPR2c.765C= (p.Asp255=)
c.696C= (p.Asp232=)
2g.202518965C>GCA350340464BMPR2c.765C>G (p.Asp255Glu)
c.696C>G (p.Asp232Glu)
2g.202518965C>TCA430839683BMPR2c.765C>T (p.Asp255=)
c.696C>T (p.Asp232=)
 dbSNP
2g.202518966A>CCA350340465BMPR2c.766A>C (p.Asn256His)
c.697A>C (p.Asn233His)
2g.202518966A>GCA350340466BMPR2c.766A>G (p.Asn256Asp)
c.697A>G (p.Asn233Asp)
2g.202518966A>TCA350340467BMPR2c.766A>T (p.Asn256Tyr)
c.697A>T (p.Asn233Tyr)
2g.202518967A>CCA350340469BMPR2c.767A>C (p.Asn256Thr)
c.698A>C (p.Asn233Thr)
2g.202518967A>GCA350340470BMPR2c.767A>G (p.Asn256Ser)
c.698A>G (p.Asn233Ser)
 gnomAD v4
2g.202518967A>TCA350340468BMPR2c.767A>T (p.Asn256Ile)
c.698A>T (p.Asn233Ile)
2g.202518968C>ACA350340471BMPR2c.768C>A (p.Asn256Lys)
c.699C>A (p.Asn233Lys)
2g.202518968C>GCA350340472BMPR2c.768C>G (p.Asn256Lys)
c.699C>G (p.Asn233Lys)
2g.202518968C>TCA430839700BMPR2c.768C>T (p.Asn256=)
c.699C>T (p.Asn233=)
2g.202518969A=CA1321539713BMPR2c.769A= (p.Ile257=)
c.700A= (p.Ile234=)
2g.202518969A>CCA350340473BMPR2c.769A>C (p.Ile257Leu)
c.700A>C (p.Ile234Leu)
2g.202518969A>GCA350340475BMPR2c.769A>G (p.Ile257Val)
c.700A>G (p.Ile234Val)
 dbSNP gnomAD v4
2g.202518969A>TCA350340474BMPR2c.769A>T (p.Ile257Phe)
c.700A>T (p.Ile234Phe)
2g.202518970T>ACA350340476BMPR2c.770T>A (p.Ile257Asn)
c.701T>A (p.Ile234Asn)
2g.202518970T>CCA2061201BMPR2c.770T>C (p.Ile257Thr)
c.701T>C (p.Ile234Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518970T>GCA350340477BMPR2c.770T>G (p.Ile257Ser)
c.701T>G (p.Ile234Ser)
2g.202518970T=CA1321539714BMPR2c.770T= (p.Ile257=)
c.701T= (p.Ile234=)
2g.202518971T>ACA430839714BMPR2c.771T>A (p.Ile257=)
c.702T>A (p.Ile234=)
2g.202518971T>CCA430839716BMPR2c.771T>C (p.Ile257=)
c.702T>C (p.Ile234=)
 ClinVar dbSNP
2g.202518971T>GCA350340478BMPR2c.771T>G (p.Ile257Met)
c.702T>G (p.Ile234Met)
2g.202518972G>ACA350340479BMPR2c.772G>A (p.Ala258Thr)
c.703G>A (p.Ala235Thr)
2g.202518972G>CCA350340480BMPR2c.772G>C (p.Ala258Pro)
c.703G>C (p.Ala235Pro)
2g.202518972G>TCA350340481BMPR2c.772G>T (p.Ala258Ser)
c.703G>T (p.Ala235Ser)
2g.202518972_202518973delinsGCCA1321539715BMPR2c.772_773delinsGC (p.Ala258=)
c.703_704delinsGC (p.Ala235=)
2g.202518973C>ACA350340482BMPR2c.773C>A (p.Ala258Asp)
c.704C>A (p.Ala235Asp)
2g.202518973C=CA1321539716BMPR2c.773C= (p.Ala258=)
c.704C= (p.Ala235=)
2g.202518973C>GCA350340483BMPR2c.773C>G (p.Ala258Gly)
c.704C>G (p.Ala235Gly)
2g.202518973C>TCA350340484BMPR2c.773C>T (p.Ala258Val)
c.704C>T (p.Ala235Val)
 dbSNP gnomAD v4
2g.202518975delCA645293813BMPR2c.775del (p.Arg259AlafsTer3)
c.706del (p.Arg236AlafsTer3)
 ClinVar dbSNP
2g.202518974C>ACA430839721BMPR2c.774C>A (p.Ala258=)
c.705C>A (p.Ala235=)
 dbSNP
2g.202518974C>GCA430839722BMPR2c.774C>G (p.Ala258=)
c.705C>G (p.Ala235=)
2g.202518974C>TCA430839724BMPR2c.774C>T (p.Ala258=)
c.705C>T (p.Ala235=)
2g.202518975C>ACA350340486BMPR2c.775C>A (p.Arg259Ser)
c.706C>A (p.Arg236Ser)
2g.202518975C=CA1321539717BMPR2c.775C= (p.Arg259=)
c.706C= (p.Arg236=)
2g.202518975C>GCA350340485BMPR2c.775C>G (p.Arg259Gly)
c.706C>G (p.Arg236Gly)
2g.202518975C>TCA2061202BMPR2c.775C>T (p.Arg259Cys)
c.706C>T (p.Arg236Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518976G>ACA2061203BMPR2c.776G>A (p.Arg259His)
c.707G>A (p.Arg236His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518976G>CCA350340487BMPR2c.776G>C (p.Arg259Pro)
c.707G>C (p.Arg236Pro)
2g.202518976G=CA1321539718BMPR2c.776G= (p.Arg259=)
c.707G= (p.Arg236=)
2g.202518976G>TCA350340488BMPR2c.776G>T (p.Arg259Leu)
c.707G>T (p.Arg236Leu)
2g.202518977C>ACA430839727BMPR2c.777C>A (p.Arg259=)
c.708C>A (p.Arg236=)
2g.202518977C>GCA430839728BMPR2c.777C>G (p.Arg259=)
c.708C>G (p.Arg236=)
2g.202518977C>TCA430839729BMPR2c.777C>T (p.Arg259=)
c.708C>T (p.Arg236=)
2g.202518978T>ACA350340489BMPR2c.778T>A (p.Phe260Ile)
c.709T>A (p.Phe237Ile)
2g.202518978T>CCA350340490BMPR2c.778T>C (p.Phe260Leu)
c.709T>C (p.Phe237Leu)
2g.202518978T>GCA350340491BMPR2c.778T>G (p.Phe260Val)
c.709T>G (p.Phe237Val)
2g.202518979T>ACA350340492BMPR2c.779T>A (p.Phe260Tyr)
c.710T>A (p.Phe237Tyr)
2g.202518979T>CCA350340493BMPR2c.779T>C (p.Phe260Ser)
c.710T>C (p.Phe237Ser)
2g.202518979T>GCA350340494BMPR2c.779T>G (p.Phe260Cys)
c.710T>G (p.Phe237Cys)
2g.202518979_202518981delinsTTACA1321539719BMPR2c.779_781delinsTTA (p.Phe260=)
c.710_712delinsTTA (p.Phe237=)
2g.202518980T>ACA350340495BMPR2c.780T>A (p.Phe260Leu)
c.711T>A (p.Phe237Leu)
2g.202518980T>CCA430839731BMPR2c.780T>C (p.Phe260=)
c.711T>C (p.Phe237=)
2g.202518980T>GCA350340496BMPR2c.780T>G (p.Phe260Leu)
c.711T>G (p.Phe237Leu)
2g.202518982_202518983delCA645293814BMPR2c.782_783del (p.Ile261SerfsTer4)
c.713_714del (p.Ile238SerfsTer4)
 ClinVar dbSNP
2g.202518981A=CA1321539720BMPR2c.781A= (p.Ile261=)
c.712A= (p.Ile238=)
2g.202518981A>CCA350340498BMPR2c.781A>C (p.Ile261Leu)
c.712A>C (p.Ile238Leu)
2g.202518981A>GCA2061204BMPR2c.781A>G (p.Ile261Val)
c.712A>G (p.Ile238Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518981A>TCA350340497BMPR2c.781A>T (p.Ile261Leu)
c.712A>T (p.Ile238Leu)
2g.202518982T>ACA350340499BMPR2c.782T>A (p.Ile261Lys)
c.713T>A (p.Ile238Lys)
2g.202518982T>CCA350340500BMPR2c.782T>C (p.Ile261Thr)
c.713T>C (p.Ile238Thr)
 dbSNP gnomAD v4
2g.202518982T>GCA350340501BMPR2c.782T>G (p.Ile261Arg)
c.713T>G (p.Ile238Arg)
2g.202518982T=CA1321539721BMPR2c.782T= (p.Ile261=)
c.713T= (p.Ile238=)
2g.202518983A>CCA430839732BMPR2c.783A>C (p.Ile261=)
c.714A>C (p.Ile238=)
2g.202518983A>GCA350340502BMPR2c.783A>G (p.Ile261Met)
c.714A>G (p.Ile238Met)
2g.202518983A>TCA430839733BMPR2c.783A>T (p.Ile261=)
c.714A>T (p.Ile238=)
2g.202518984G>ACA350340505BMPR2c.784G>A (p.Val262Ile)
c.715G>A (p.Val239Ile)
2g.202518984G>CCA350340504BMPR2c.784G>C (p.Val262Leu)
c.715G>C (p.Val239Leu)
2g.202518984G=CA1321539722BMPR2c.784G= (p.Val262=)
c.715G= (p.Val239=)
2g.202518984G>TCA350340503BMPR2c.784G>T (p.Val262Phe)
c.715G>T (p.Val239Phe)
2g.202518985T>ACA350340506BMPR2c.785T>A (p.Val262Asp)
c.716T>A (p.Val239Asp)
2g.202518985T>CCA2061205BMPR2c.785T>C (p.Val262Ala)
c.716T>C (p.Val239Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518985T>GCA350340507BMPR2c.785T>G (p.Val262Gly)
c.716T>G (p.Val239Gly)
2g.202518985T=CA1321539723BMPR2c.785T= (p.Val262=)
c.716T= (p.Val239=)
2g.202518986dupCA645293815BMPR2c.786dup (p.Gly263TrpfsTer3)
c.717dup (p.Gly240TrpfsTer3)
 ClinVar dbSNP
2g.202518986T>ACA430839735BMPR2c.786T>A (p.Val262=)
c.717T>A (p.Val239=)
2g.202518986T>CCA430839736BMPR2c.786T>C (p.Val262=)
c.717T>C (p.Val239=)
2g.202518986T>GCA430839734BMPR2c.786T>G (p.Val262=)
c.717T>G (p.Val239=)
2g.202518987G>ACA350340508BMPR2c.787G>A (p.Gly263Arg)
c.718G>A (p.Gly240Arg)
2g.202518987G>CCA350340509BMPR2c.787G>C (p.Gly263Arg)
c.718G>C (p.Gly240Arg)
2g.202518987G>TCA350340510BMPR2c.787G>T (p.Gly263Ter)
c.718G>T (p.Gly240Ter)
2g.202518988G>ACA350340511BMPR2c.788G>A (p.Gly263Glu)
c.719G>A (p.Gly240Glu)
 gnomAD v4
2g.202518988G>CCA350340513BMPR2c.788G>C (p.Gly263Ala)
c.719G>C (p.Gly240Ala)
 gnomAD v4
2g.202518988G>TCA350340512BMPR2c.788G>T (p.Gly263Val)
c.719G>T (p.Gly240Val)
2g.202518989A>CCA430839739BMPR2c.789A>C (p.Gly263=)
c.720A>C (p.Gly240=)
2g.202518989A>GCA430839737BMPR2c.789A>G (p.Gly263=)
c.720A>G (p.Gly240=)
2g.202518989A>TCA430839738BMPR2c.789A>T (p.Gly263=)
c.720A>T (p.Gly240=)
2g.202518989_202518990delinsAGCA1321539724BMPR2c.789_790delinsAG (p.Gly263=)
c.720_721delinsAG (p.Gly240=)
2g.202518990delCA645293816BMPR2c.790del (p.Asp264MetfsTer15)
c.721del (p.Asp241MetfsTer15)
 ClinVar dbSNP
2g.202518990G>ACA350340514BMPR2c.790G>A (p.Asp264Asn)
c.721G>A (p.Asp241Asn)
2g.202518990G>CCA350340515BMPR2c.790G>C (p.Asp264His)
c.721G>C (p.Asp241His)
2g.202518990G>TCA350340516BMPR2c.790G>T (p.Asp264Tyr)
c.721G>T (p.Asp241Tyr)
2g.202518991A>CCA350340517BMPR2c.791A>C (p.Asp264Ala)
c.722A>C (p.Asp241Ala)
2g.202518991A>GCA350340518BMPR2c.791A>G (p.Asp264Gly)
c.722A>G (p.Asp241Gly)
2g.202518991A>TCA350340519BMPR2c.791A>T (p.Asp264Val)
c.722A>T (p.Asp241Val)
2g.202518992T>ACA350340520BMPR2c.792T>A (p.Asp264Glu)
c.723T>A (p.Asp241Glu)
2g.202518992T>CCA2061206BMPR2c.792T>C (p.Asp264=)
c.723T>C (p.Asp241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518992T>GCA350340521BMPR2c.792T>G (p.Asp264Glu)
c.723T>G (p.Asp241Glu)
2g.202518992T=CA1321539725BMPR2c.792T= (p.Asp264=)
c.723T= (p.Asp241=)
2g.202518992_202518996delinsTGAGACA1321539726BMPR2c.792_796delinsTGAGA (p.Asp264=)
c.723_727delinsTGAGA (p.Asp241=)
2g.202518993G>ACA350340522BMPR2c.793G>A (p.Glu265Lys)
c.724G>A (p.Glu242Lys)
 dbSNP
2g.202518993G>CCA350340523BMPR2c.793G>C (p.Glu265Gln)
c.724G>C (p.Glu242Gln)
2g.202518993G=CA1321539727BMPR2c.793G= (p.Glu265=)
c.724G= (p.Glu242=)
2g.202518993G>TCA350340524BMPR2c.793G>T (p.Glu265Ter)
c.724G>T (p.Glu242Ter)
 ClinVar dbSNP
2g.202518998_202518999dupCA2697551481BMPR2c.798_799dup (p.Val267GlufsTer13)
c.729_730dup (p.Val244GlufsTer13)
 ClinVar
2g.202518998_202518999delCA645532630BMPR2c.798_799del (p.Arg266SerfsTer?)
c.729_730del (p.Arg243SerfsTer?)
 COSMIC
2g.202518996_202518999delCA645293817BMPR2c.796_799del (p.Arg266SerfsTer12)
c.727_730del (p.Arg243SerfsTer12)
 ClinVar dbSNP
2g.202518994A=CA1321539728BMPR2c.794A= (p.Glu265=)
c.725A= (p.Glu242=)
2g.202518994A>CCA350340526BMPR2c.794A>C (p.Glu265Ala)
c.725A>C (p.Glu242Ala)
2g.202518994A>GCA350340527BMPR2c.794A>G (p.Glu265Gly)
c.725A>G (p.Glu242Gly)
 ClinVar dbSNP
2g.202518994A>TCA350340525BMPR2c.794A>T (p.Glu265Val)
c.725A>T (p.Glu242Val)
2g.202518995G>ACA430839740BMPR2c.795G>A (p.Glu265=)
c.726G>A (p.Glu242=)
2g.202518995G>CCA350340529BMPR2c.795G>C (p.Glu265Asp)
c.726G>C (p.Glu242Asp)
2g.202518995G>TCA350340528BMPR2c.795G>T (p.Glu265Asp)
c.726G>T (p.Glu242Asp)
2g.202518995_202518996delinsGACA1321539729BMPR2c.795_796delinsGA (p.Glu265=)
c.726_727delinsGA (p.Glu242=)
2g.202518995_202518996delinsTTCA645293818BMPR2c.795_796delinsTT (p.Glu265AspfsTer2)
c.726_727delinsTT (p.Glu242AspfsTer2)
 ClinVar dbSNP
2g.202518996A>CCA430839741BMPR2c.796A>C (p.Arg266=)
c.727A>C (p.Arg243=)
2g.202518996A>GCA350340530BMPR2c.796A>G (p.Arg266Gly)
c.727A>G (p.Arg243Gly)
2g.202518996A>TCA350340531BMPR2c.796A>T (p.Arg266Ter)
c.727A>T (p.Arg243Ter)
2g.202518997G>ACA350340532BMPR2c.797G>A (p.Arg266Lys)
c.728G>A (p.Arg243Lys)
 dbSNP
2g.202518997G>CCA320454BMPR2c.797G>C (p.Arg266Thr)
c.728G>C (p.Arg243Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518997G=CA1321539730BMPR2c.797G= (p.Arg266=)
c.728G= (p.Arg243=)
2g.202518997G>TCA350340533BMPR2c.797G>T (p.Arg266Ile)
c.728G>T (p.Arg243Ile)
2g.202518998A=CA1321539731BMPR2c.798A= (p.Arg266=)
c.729A= (p.Arg243=)
2g.202518998A>CCA350340534BMPR2c.798A>C (p.Arg266Ser)
c.729A>C (p.Arg243Ser)
2g.202518998A>GCA430839742BMPR2c.798A>G (p.Arg266=)
c.729A>G (p.Arg243=)
2g.202518998A>TCA2061207BMPR2c.798A>T (p.Arg266Ser)
c.729A>T (p.Arg243Ser)
 ClinVar dbSNP ExAC gnomAD v2
2g.202518999G>ACA2061208BMPR2c.799G>A (p.Val267Ile)
c.730G>A (p.Val244Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.202518999G>CCA350340535BMPR2c.799G>C (p.Val267Leu)
c.730G>C (p.Val244Leu)
2g.202518999G=CA1321539732BMPR2c.799G= (p.Val267=)
c.730G= (p.Val244=)
2g.202518999G>TCA350340536BMPR2c.799G>T (p.Val267Phe)
c.730G>T (p.Val244Phe)
2g.202519000T>ACA350340539BMPR2c.800T>A (p.Val267Asp)
c.731T>A (p.Val244Asp)
2g.202519000T>CCA350340538BMPR2c.800T>C (p.Val267Ala)
c.731T>C (p.Val244Ala)
2g.202519000T>GCA350340537BMPR2c.800T>G (p.Val267Gly)
c.731T>G (p.Val244Gly)
2g.202519001C>ACA430839743BMPR2c.801C>A (p.Val267=)
c.732C>A (p.Val244=)
2g.202519001C=CA1321539733BMPR2c.801C= (p.Val267=)
c.732C= (p.Val244=)
2g.202519001C>GCA430839744BMPR2c.801C>G (p.Val267=)
c.732C>G (p.Val244=)
2g.202519001C>TCA430839745BMPR2c.801C>T (p.Val267=)
c.732C>T (p.Val244=)

Number of alleles fetched