Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
 ClinVar
2g.202465115_202467788delCA915941495BMPR2c.247+136_418+99del
c.176+132_349+99del
n.154+136_325+99del
 ClinVar
2g.202465783_202470694delCA915941496BMPR2c.247+804_418+3005del
c.176+800_349+3005del
n.154+804_325+3005del
 ClinVar
2g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACCCA1321509919BMPR2c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
2g.202466927_202467684delinsGTAAAGTACA645293853BMPR2c.248-592_413delinsGTAAAGTA
c.177-126_344delinsGTAAAGTA
n.155-592_320delinsGTAAAGTA
 ClinVar dbSNP
2g.202467669_202467670delinsCTCA1321510685BMPR2c.398_399delinsCT (p.Pro133=)
c.329_330delinsCT (p.Pro110=)
n.305_306delinsCT
2g.202467670delCA645294016BMPR2c.399del (p.Pro134LeufsTer18)
c.330del (p.Pro111LeufsTer18)
n.306del
 ClinVar dbSNP
2g.202467670T>ACA430903880BMPR2c.399T>A (p.Pro133=)
c.330T>A (p.Pro110=)
n.306T>A
2g.202467670T>CCA430903882BMPR2c.399T>C (p.Pro133=)
c.330T>C (p.Pro110=)
n.306T>C
2g.202467670T>GCA430903881BMPR2c.399T>G (p.Pro133=)
c.330T>G (p.Pro110=)
n.306T>G
2g.202467671C>ACA350399849BMPR2c.400C>A (p.Pro134Thr)
c.331C>A (p.Pro111Thr)
n.307C>A
2g.202467671C>GCA350399850BMPR2c.400C>G (p.Pro134Ala)
c.331C>G (p.Pro111Ala)
n.307C>G
2g.202467671C>TCA350399851BMPR2c.400C>T (p.Pro134Ser)
c.331C>T (p.Pro111Ser)
n.307C>T
 gnomAD v4
2g.202467672C>ACA350399852BMPR2c.401C>A (p.Pro134His)
c.332C>A (p.Pro111His)
n.308C>A
2g.202467672C>GCA350399853BMPR2c.401C>G (p.Pro134Arg)
c.332C>G (p.Pro111Arg)
n.308C>G
 COSMIC
2g.202467672C>TCA350399854BMPR2c.401C>T (p.Pro134Leu)
c.332C>T (p.Pro111Leu)
n.308C>T
 gnomAD v4
2g.202467673T>ACA2061093BMPR2c.402T>A (p.Pro134=)
c.333T>A (p.Pro111=)
n.309T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467673T>CCA430903883BMPR2c.402T>C (p.Pro134=)
c.333T>C (p.Pro111=)
n.309T>C
2g.202467673T>GCA430903884BMPR2c.402T>G (p.Pro134=)
c.333T>G (p.Pro111=)
n.309T>G
2g.202467673T=CA1321510689BMPR2c.402T= (p.Pro134=)
c.333T= (p.Pro111=)
n.309T=
2g.202467674G>ACA350399855BMPR2c.403G>A (p.Asp135Asn)
c.334G>A (p.Asp112Asn)
n.310G>A
2g.202467674G>CCA350399856BMPR2c.403G>C (p.Asp135His)
c.334G>C (p.Asp112His)
n.310G>C
2g.202467674G>TCA350399857BMPR2c.403G>T (p.Asp135Tyr)
c.334G>T (p.Asp112Tyr)
n.310G>T
2g.202467674_202467676delinsGACCA1321510692BMPR2c.403_405delinsGAC (p.Asp135=)
c.334_336delinsGAC (p.Asp112=)
n.310_312delinsGAC
2g.202467674_202467679delinsGACACACA1321510693BMPR2c.403_408delinsGACACA (p.Asp135=)
c.334_339delinsGACACA (p.Asp112=)
n.310_315delinsGACACA
2g.202467675A>CCA350399858BMPR2c.404A>C (p.Asp135Ala)
c.335A>C (p.Asp112Ala)
n.311A>C
2g.202467675A>GCA350399859BMPR2c.404A>G (p.Asp135Gly)
c.335A>G (p.Asp112Gly)
n.311A>G
2g.202467675A>TCA350399860BMPR2c.404A>T (p.Asp135Val)
c.335A>T (p.Asp112Val)
n.311A>T
2g.202467678_202467679delCA645294018BMPR2c.407_408del (p.Thr136AsnfsTer10)
c.338_339del (p.Thr113AsnfsTer10)
n.314_315del
 ClinVar dbSNP
2g.202467679_202467683delCA645294017BMPR2c.408_412del (p.Pro138GlnfsTer7)
c.339_343del (p.Pro115GlnfsTer7)
n.315_319del
 ClinVar dbSNP
2g.202467676C>ACA350399862BMPR2c.405C>A (p.Asp135Glu)
c.336C>A (p.Asp112Glu)
n.312C>A
2g.202467676C>GCA350399861BMPR2c.405C>G (p.Asp135Glu)
c.336C>G (p.Asp112Glu)
n.312C>G
2g.202467676C>TCA430903885BMPR2c.405C>T (p.Asp135=)
c.336C>T (p.Asp112=)
n.312C>T
2g.202467677A>CCA350399863BMPR2c.406A>C (p.Thr136Pro)
c.337A>C (p.Thr113Pro)
n.313A>C
2g.202467677A>GCA350399864BMPR2c.406A>G (p.Thr136Ala)
c.337A>G (p.Thr113Ala)
n.313A>G
2g.202467677A>TCA350399865BMPR2c.406A>T (p.Thr136Ser)
c.337A>T (p.Thr113Ser)
n.313A>T
2g.202467680_202467682delCA2662704388BMPR2c.409_411del (p.Thr137del)
c.340_342del (p.Thr114del)
n.316_318del
 gnomAD v4
2g.202467678C>ACA350399866BMPR2c.407C>A (p.Thr136Lys)
c.338C>A (p.Thr113Lys)
n.314C>A
2g.202467678C>GCA350399867BMPR2c.407C>G (p.Thr136Arg)
c.338C>G (p.Thr113Arg)
n.314C>G
2g.202467678C>TCA350399868BMPR2c.407C>T (p.Thr136Ile)
c.338C>T (p.Thr113Ile)
n.314C>T
2g.202467679A=CA1321510703BMPR2c.408A= (p.Thr136=)
c.339A= (p.Thr113=)
n.315A=
2g.202467679A>CCA430903887BMPR2c.408A>C (p.Thr136=)
c.339A>C (p.Thr113=)
n.315A>C
2g.202467679A>GCA2061094BMPR2c.408A>G (p.Thr136=)
c.339A>G (p.Thr113=)
n.315A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467679A>TCA430903886BMPR2c.408A>T (p.Thr136=)
c.339A>T (p.Thr113=)
n.315A>T
2g.202467680dupCA2573134354BMPR2c.409dup (p.Thr137AsnfsTer10)
c.340dup (p.Thr114AsnfsTer10)
n.316dup
 ClinVar dbSNP
2g.202467680A=CA1321510709BMPR2c.409A= (p.Thr137=)
c.340A= (p.Thr114=)
n.316A=
2g.202467680A>CCA64532513BMPR2c.409A>C (p.Thr137Pro)
c.340A>C (p.Thr114Pro)
n.316A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467680A>GCA350399869BMPR2c.409A>G (p.Thr137Ala)
c.340A>G (p.Thr114Ala)
n.316A>G
 dbSNP gnomAD v4
2g.202467680A>TCA350399870BMPR2c.409A>T (p.Thr137Ser)
c.340A>T (p.Thr114Ser)
n.316A>T
2g.202467681C>ACA350399871BMPR2c.410C>A (p.Thr137Lys)
c.341C>A (p.Thr114Lys)
n.317C>A
2g.202467681C>GCA350399872BMPR2c.410C>G (p.Thr137Arg)
c.341C>G (p.Thr114Arg)
n.317C>G
2g.202467681C>TCA350399873BMPR2c.410C>T (p.Thr137Ile)
c.341C>T (p.Thr114Ile)
n.317C>T
2g.202467682A=CA1321510715BMPR2c.411A= (p.Thr137=)
c.342A= (p.Thr114=)
n.318A=
2g.202467682A>CCA430903888BMPR2c.411A>C (p.Thr137=)
c.342A>C (p.Thr114=)
n.318A>C
2g.202467682A>GCA2061095BMPR2c.411A>G (p.Thr137=)
c.342A>G (p.Thr114=)
n.318A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467682A>TCA430903889BMPR2c.411A>T (p.Thr137=)
c.342A>T (p.Thr114=)
n.318A>T
 dbSNP
2g.202467683C>ACA350399874BMPR2c.412C>A (p.Pro138Thr)
c.343C>A (p.Pro115Thr)
n.319C>A
 gnomAD v4 COSMIC
2g.202467683C=CA1321510717BMPR2c.412C= (p.Pro138=)
c.343C= (p.Pro115=)
n.319C=
2g.202467683C>GCA350399875BMPR2c.412C>G (p.Pro138Ala)
c.343C>G (p.Pro115Ala)
n.319C>G
2g.202467683C>TCA64532514BMPR2c.412C>T (p.Pro138Ser)
c.343C>T (p.Pro115Ser)
n.319C>T
 dbSNP gnomAD v4
2g.202467684C>ACA350399876BMPR2c.413C>A (p.Pro138Gln)
c.344C>A (p.Pro115Gln)
n.320C>A
2g.202467684C>GCA350399878BMPR2c.413C>G (p.Pro138Arg)
c.344C>G (p.Pro115Arg)
n.320C>G
2g.202467684C>TCA350399877BMPR2c.413C>T (p.Pro138Leu)
c.344C>T (p.Pro115Leu)
n.320C>T
2g.202467685A=CA1321510721BMPR2c.414A= (p.Pro138=)
c.345A= (p.Pro115=)
n.321A=
2g.202467685A>CCA430903890BMPR2c.414A>C (p.Pro138=)
c.345A>C (p.Pro115=)
n.321A>C
2g.202467685A>GCA2061096BMPR2c.414A>G (p.Pro138=)
c.345A>G (p.Pro115=)
n.321A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467685A>TCA430903891BMPR2c.414A>T (p.Pro138=)
c.345A>T (p.Pro115=)
n.321A>T
2g.202467686C>ACA350399881BMPR2c.415C>A (p.Leu139Ile)
c.346C>A (p.Leu116Ile)
n.322C>A
2g.202467686C=CA1321510723BMPR2c.415C= (p.Leu139=)
c.346C= (p.Leu116=)
n.322C=
2g.202467686C>GCA350399879BMPR2c.415C>G (p.Leu139Val)
c.346C>G (p.Leu116Val)
n.322C>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467686C>TCA350399880BMPR2c.415C>T (p.Leu139Phe)
c.346C>T (p.Leu116Phe)
n.322C>T
 dbSNP
2g.202467686_202467690delinsCTCAGCA1321510725BMPR2c.415_418+1delinsCTCAG
c.346_349+1delinsCTCAG
n.322_325+1delinsCTCAG
2g.202467687T>ACA350399882BMPR2c.416T>A (p.Leu139His)
c.347T>A (p.Leu116His)
n.323T>A
2g.202467687T>CCA350399883BMPR2c.416T>C (p.Leu139Pro)
c.347T>C (p.Leu116Pro)
n.323T>C
2g.202467687T>GCA350399884BMPR2c.416T>G (p.Leu139Arg)
c.347T>G (p.Leu116Arg)
n.323T>G
2g.202467688_202467691delCA915941501BMPR2c.417_418+2del
c.348_349+2del
n.324_325+2del
 ClinVar dbSNP
2g.202467688C>ACA430903892BMPR2c.417C>A (p.Leu139=)
c.348C>A (p.Leu116=)
n.324C>A
 gnomAD v4
2g.202467688C=CA1321510740BMPR2c.417C= (p.Leu139=)
c.348C= (p.Leu116=)
n.324C=
2g.202467688C>GCA430903893BMPR2c.417C>G (p.Leu139=)
c.348C>G (p.Leu116=)
n.324C>G
 dbSNP gnomAD v3 gnomAD v4
2g.202467688C>TCA2061097BMPR2c.417C>T (p.Leu139=)
c.348C>T (p.Leu116=)
n.324C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467688_202467692delinsCAGTACA1321510738BMPR2c.417_418+3delinsCAGTA
c.348_349+3delinsCAGTA
n.324_325+3delinsCAGTA
2g.202467689A>CCA350399885BMPR2c.418A>C (p.Ser140Arg)
c.349A>C (p.Ser117Arg)
n.325A>C
2g.202467689A>GCA350399886BMPR2c.418A>G (p.Ser140Gly)
c.349A>G (p.Ser117Gly)
n.325A>G
2g.202467689A>TCA350399887BMPR2c.418A>T (p.Ser140Cys)
c.349A>T (p.Ser117Cys)
n.325A>T
2g.202467694_202467697delCA645294019BMPR2c.418+5_418+8del
c.349+5_349+8del
n.325+5_325+8del
 ClinVar dbSNP
2g.202467690delCA2586965560BMPR2c.418+1del (n.418+1del)
c.349+1del (n.349+1del)
n.325+1del
2g.202467690G>ACA350399888BMPR2c.418+1G>A (n.418+1G>A)
c.349+1G>A (n.349+1G>A)
n.325+1G>A
2g.202467690G>CCA350399889BMPR2c.418+1G>C (n.418+1G>C)
c.349+1G>C (n.349+1G>C)
n.325+1G>C
 ClinVar dbSNP
2g.202467690G=CA1321510752BMPR2c.418+1G= (n.418+1G=)
c.349+1G= (n.349+1G=)
n.325+1G=
2g.202467690G>TCA350399890BMPR2c.418+1G>T (n.418+1G>T)
c.349+1G>T (n.349+1G>T)
n.325+1G>T
 ClinVar dbSNP
2g.202467691T>ACA350399893BMPR2c.418+2T>A (n.418+2T>A)
c.349+2T>A (n.349+2T>A)
n.325+2T>A
2g.202467691T>CCA350399891BMPR2c.418+2T>C (n.418+2T>C)
c.349+2T>C (n.349+2T>C)
n.325+2T>C
2g.202467691T>GCA350399892BMPR2c.418+2T>G (n.418+2T>G)
c.349+2T>G (n.349+2T>G)
n.325+2T>G
2g.202467691_202467693delinsGAGCA645294020BMPR2c.418+2_418+4delinsGAG (n.418+2_418+4delinsGAG)
c.349+2_349+4delinsGAG (n.349+2_349+4delinsGAG)
n.325+2_325+4delinsGAG
 ClinVar dbSNP
2g.202467691_202467693delinsTAACA1321510759BMPR2c.418+2_418+4delinsTAA (n.418+2_418+4delinsTAA)
c.349+2_349+4delinsTAA (n.349+2_349+4delinsTAA)
n.325+2_325+4delinsTAA
2g.202467691_202467696delinsTAAGTACA1321510762BMPR2c.418+2_418+7delinsTAAGTA (n.418+2_418+7delinsTAAGTA)
c.349+2_349+7delinsTAAGTA (n.349+2_349+7delinsTAAGTA)
n.325+2_325+7delinsTAAGTA
2g.202467692A=CA1321510764BMPR2c.418+3A= (n.418+3A=)
c.349+3A= (n.349+3A=)
n.325+3A=
2g.202467692A>TCA645294021BMPR2c.418+3A>T (n.418+3A>T)
c.349+3A>T (n.349+3A>T)
n.325+3A>T
 ClinVar dbSNP
2g.202467698_202467702delCA539387820BMPR2c.418+9_418+13del (n.418+9_418+13del)
c.349+9_349+13del (n.349+9_349+13del)
n.325+9_325+13del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467693A>GCA2586965561BMPR2c.418+4A>G (n.418+4A>G)
c.349+4A>G (n.349+4A>G)
n.325+4A>G
2g.202467694G>ACA645294022BMPR2c.418+5G>A (n.418+5G>A)
c.349+5G>A (n.349+5G>A)
n.325+5G>A
 ClinVar dbSNP
2g.202467694G=CA1321510770BMPR2c.418+5G= (n.418+5G=)
c.349+5G= (n.349+5G=)
n.325+5G=
2g.202467697A>GCA2662704389BMPR2c.418+8A>G (n.418+8A>G)
c.349+8A>G (n.349+8A>G)
n.325+8A>G
 gnomAD v4
2g.202467700delCA2577215520BMPR2c.418+11del (n.418+11del)
c.349+11del (n.349+11del)
n.325+11del
2g.202467700T>ACA2061098BMPR2c.418+11T>A (n.418+11T>A)
c.349+11T>A (n.349+11T>A)
n.325+11T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467700T=CA1321510772BMPR2c.418+11T= (n.418+11T=)
c.349+11T= (n.349+11T=)
n.325+11T=
2g.202467702A=CA1321510774BMPR2c.418+13A= (n.418+13A=)
c.349+13A= (n.349+13A=)
n.325+13A=
2g.202467702A>CCA2061099BMPR2c.418+13A>C (n.418+13A>C)
c.349+13A>C (n.349+13A>C)
n.325+13A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467703C>ACA2753903982BMPR2c.418+14C>A (n.418+14C>A)
c.349+14C>A (n.349+14C>A)
n.325+14C>A
2g.202467703C=CA1321510777BMPR2c.418+14C= (n.418+14C=)
c.349+14C= (n.349+14C=)
n.325+14C=
2g.202467703C>GCA539387821BMPR2c.418+14C>G (n.418+14C>G)
c.349+14C>G (n.349+14C>G)
n.325+14C>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467704delCA2662704390BMPR2c.418+15del (n.418+15del)
c.349+15del (n.349+15del)
n.325+15del
 gnomAD v4
2g.202467705A=CA1321510779BMPR2c.418+16A= (n.418+16A=)
c.349+16A= (n.349+16A=)
n.325+16A=
2g.202467705A>GCA2061100BMPR2c.418+16A>G (n.418+16A>G)
c.349+16A>G (n.349+16A>G)
n.325+16A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467706A=CA1321510781BMPR2c.418+17A= (n.418+17A=)
c.349+17A= (n.349+17A=)
n.325+17A=
2g.202467706A>GCA2061101BMPR2c.418+17A>G (n.418+17A>G)
c.349+17A>G (n.349+17A>G)
n.325+17A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467708T>ACA539387822BMPR2c.418+19T>A (n.418+19T>A)
c.349+19T>A (n.349+19T>A)
n.325+19T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467708T>CCA2577215521BMPR2c.418+19T>C (n.418+19T>C)
c.349+19T>C (n.349+19T>C)
n.325+19T>C
 gnomAD v4
2g.202467708T=CA1321510784BMPR2c.418+19T= (n.418+19T=)
c.349+19T= (n.349+19T=)
n.325+19T=
2g.202467711T>CCA430903894BMPR2c.418+22T>C (n.418+22T>C)
c.349+22T>C (n.349+22T>C)
n.325+22T>C
2g.202467711T>GCA2662704391BMPR2c.418+22T>G (n.418+22T>G)
c.349+22T>G (n.349+22T>G)
n.325+22T>G
 gnomAD v4
2g.202467715delCA2662704392BMPR2c.418+26del (n.418+26del)
c.349+26del (n.349+26del)
n.325+26del
 gnomAD v4
2g.202467714T>ACA539387823BMPR2c.418+25T>A (n.418+25T>A)
c.349+25T>A (n.349+25T>A)
n.325+25T>A
 dbSNP gnomAD v2 gnomAD v4
2g.202467714T>CCA2662704393BMPR2c.418+25T>C (n.418+25T>C)
c.349+25T>C (n.349+25T>C)
n.325+25T>C
 gnomAD v4
2g.202467714T=CA1321510785BMPR2c.418+25T= (n.418+25T=)
c.349+25T= (n.349+25T=)
n.325+25T=
2g.202467716G>ACA647618504BMPR2c.418+27G>A (n.418+27G>A)
c.349+27G>A (n.349+27G>A)
n.325+27G>A
 COSMIC
2g.202467718A=CA1321510789BMPR2c.418+29A= (n.418+29A=)
c.349+29A= (n.349+29A=)
n.325+29A=
2g.202467718A>GCA2061102BMPR2c.418+29A>G (n.418+29A>G)
c.349+29A>G (n.349+29A>G)
n.325+29A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467721T>GCA1321510795BMPR2c.418+32T>G (n.418+32T>G)
c.349+32T>G (n.349+32T>G)
n.325+32T>G
 dbSNP
2g.202467721T=CA1321510793BMPR2c.418+32T= (n.418+32T=)
c.349+32T= (n.349+32T=)
n.325+32T=
2g.202467722C>TCA2662704394BMPR2c.418+33C>T (n.418+33C>T)
c.349+33C>T (n.349+33C>T)
n.325+33C>T
 gnomAD v4
2g.202467723C=CA1321510800BMPR2c.418+34C= (n.418+34C=)
c.349+34C= (n.349+34C=)
n.325+34C=
2g.202467723C>GCA539014684BMPR2c.418+34C>G (n.418+34C>G)
c.349+34C>G (n.349+34C>G)
n.325+34C>G
 dbSNP gnomAD v2 gnomAD v4
2g.202467723C>TCA2061103BMPR2c.418+34C>T (n.418+34C>T)
c.349+34C>T (n.349+34C>T)
n.325+34C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467724T>ACA2061104BMPR2c.418+35T>A (n.418+35T>A)
c.349+35T>A (n.349+35T>A)
n.325+35T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467724T>CCA2662704395BMPR2c.418+35T>C (n.418+35T>C)
c.349+35T>C (n.349+35T>C)
n.325+35T>C
 gnomAD v4
2g.202467724T=CA1321510804BMPR2c.418+35T= (n.418+35T=)
c.349+35T= (n.349+35T=)
n.325+35T=
2g.202467725T>CCA2662704396BMPR2c.418+36T>C (n.418+36T>C)
c.349+36T>C (n.349+36T>C)
n.325+36T>C
 gnomAD v4
2g.202467727C>ACA763419478BMPR2c.418+38C>A (n.418+38C>A)
c.349+38C>A (n.349+38C>A)
n.325+38C>A
 dbSNP gnomAD v4
2g.202467727C=CA1321510808BMPR2c.418+38C= (n.418+38C=)
c.349+38C= (n.349+38C=)
n.325+38C=
2g.202467727C>TCA2061105BMPR2c.418+38C>T (n.418+38C>T)
c.349+38C>T (n.349+38C>T)
n.325+38C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467728T>CCA2662704397BMPR2c.418+39T>C (n.418+39T>C)
c.349+39T>C (n.349+39T>C)
n.325+39T>C
 gnomAD v4
2g.202467728_202467729delinsTCCA1321510810BMPR2c.418+39_418+40delinsTC (n.418+39_418+40delinsTC)
c.349+39_349+40delinsTC (n.349+39_349+40delinsTC)
n.325+39_325+40delinsTC
2g.202467730delCA2061106BMPR2c.418+41del (n.418+41del)
c.349+41del (n.349+41del)
n.325+41del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467730C>ACA2662704398BMPR2c.418+41C>A (n.418+41C>A)
c.349+41C>A (n.349+41C>A)
n.325+41C>A
 gnomAD v4
2g.202467732A=CA1321510813BMPR2c.418+43A= (n.418+43A=)
c.349+43A= (n.349+43A=)
n.325+43A=
2g.202467732A>GCA2061107BMPR2c.418+43A>G (n.418+43A>G)
c.349+43A>G (n.349+43A>G)
n.325+43A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467732A>TCA2753903983BMPR2c.418+43A>T (n.418+43A>T)
c.349+43A>T (n.349+43A>T)
n.325+43A>T
2g.202467735A=CA1321510815BMPR2c.418+46A= (n.418+46A=)
c.349+46A= (n.349+46A=)
n.325+46A=
2g.202467735A>GCA64532515BMPR2c.418+46A>G (n.418+46A>G)
c.349+46A>G (n.349+46A>G)
n.325+46A>G
 dbSNP gnomAD v4
2g.202467735_202467736delinsATCA1321510816BMPR2c.418+46_418+47delinsAT (n.418+46_418+47delinsAT)
c.349+46_349+47delinsAT (n.349+46_349+47delinsAT)
n.325+46_325+47delinsAT
2g.202467736T>GCA2061108BMPR2c.418+47T>G (n.418+47T>G)
c.349+47T>G (n.349+47T>G)
n.325+47T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467736T=CA1321510819BMPR2c.418+47T= (n.418+47T=)
c.349+47T= (n.349+47T=)
n.325+47T=
2g.202467738delCA539014691BMPR2c.418+49del (n.418+49del)
c.349+49del (n.349+49del)
n.325+49del
 dbSNP gnomAD v2 gnomAD v4
2g.202467737T>ACA1041294284BMPR2c.418+48T>A (n.418+48T>A)
c.349+48T>A (n.349+48T>A)
n.325+48T>A
 dbSNP gnomAD v3 gnomAD v4
2g.202467737T>GCA2662704399BMPR2c.418+48T>G (n.418+48T>G)
c.349+48T>G (n.349+48T>G)
n.325+48T>G
 gnomAD v4
2g.202467737T=CA1321510823BMPR2c.418+48T= (n.418+48T=)
c.349+48T= (n.349+48T=)
n.325+48T=
2g.202467738T>CCA2577215522BMPR2c.418+49T>C (n.418+49T>C)
c.349+49T>C (n.349+49T>C)
n.325+49T>C
2g.202467739G=CA1321510826BMPR2c.418+50G= (n.418+50G=)
c.349+50G= (n.349+50G=)
n.325+50G=
2g.202467739G>TCA539014692BMPR2c.418+50G>T (n.418+50G>T)
c.349+50G>T (n.349+50G>T)
n.325+50G>T
 dbSNP gnomAD v2 gnomAD v4
2g.202467740C>ACA2662704400BMPR2c.418+51C>A (n.418+51C>A)
c.349+51C>A (n.349+51C>A)
n.325+51C>A
 gnomAD v4
2g.202467744A=CA1321510828BMPR2c.418+55A= (n.418+55A=)
c.349+55A= (n.349+55A=)
n.325+55A=
2g.202467744A>CCA2581845855BMPR2c.418+55A>C (n.418+55A>C)
c.349+55A>C (n.349+55A>C)
n.325+55A>C
 gnomAD v4
2g.202467744A>GCA64532516BMPR2c.418+55A>G (n.418+55A>G)
c.349+55A>G (n.349+55A>G)
n.325+55A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467744A>TCA2581845856BMPR2c.418+55A>T (n.418+55A>T)
c.349+55A>T (n.349+55A>T)
n.325+55A>T
2g.202467745T>CCA2662704401BMPR2c.418+56T>C (n.418+56T>C)
c.349+56T>C (n.349+56T>C)
n.325+56T>C
 gnomAD v4
2g.202467747T>CCA539014695BMPR2c.418+58T>C (n.418+58T>C)
c.349+58T>C (n.349+58T>C)
n.325+58T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467747T=CA1321510830BMPR2c.418+58T= (n.418+58T=)
c.349+58T= (n.349+58T=)
n.325+58T=
2g.202467747_202467748delinsTACA1321510832BMPR2c.418+58_418+59delinsTA (n.418+58_418+59delinsTA)
c.349+58_349+59delinsTA (n.349+58_349+59delinsTA)
n.325+58_325+59delinsTA
2g.202467748A=CA1321510833BMPR2c.418+59A= (n.418+59A=)
c.349+59A= (n.349+59A=)
n.325+59A=
2g.202467748A>GCA2662704402BMPR2c.418+59A>G (n.418+59A>G)
c.349+59A>G (n.349+59A>G)
n.325+59A>G
 gnomAD v4
2g.202467748A>TCA1041294291BMPR2c.418+59A>T (n.418+59A>T)
c.349+59A>T (n.349+59A>T)
n.325+59A>T
 dbSNP gnomAD v3 gnomAD v4
2g.202467754dupCA1321510835BMPR2c.418+65dup (n.418+65dup)
c.349+65dup (n.349+65dup)
n.325+65dup
 dbSNP gnomAD v4
2g.202467754delCA1321510834BMPR2c.418+65del (n.418+65del)
c.349+65del (n.349+65del)
n.325+65del
 dbSNP gnomAD v4
2g.202467750A>TCA2662704403BMPR2c.418+61A>T (n.418+61A>T)
c.349+61A>T (n.349+61A>T)
n.325+61A>T
 gnomAD v4
2g.202467751A>GCA2662704404BMPR2c.418+62A>G (n.418+62A>G)
c.349+62A>G (n.349+62A>G)
n.325+62A>G
 gnomAD v4
2g.202467754A=CA1321510836BMPR2c.418+65A= (n.418+65A=)
c.349+65A= (n.349+65A=)
n.325+65A=
2g.202467754A>TCA1041294292BMPR2c.418+65A>T (n.418+65A>T)
c.349+65A>T (n.349+65A>T)
n.325+65A>T
 dbSNP gnomAD v3 gnomAD v4
2g.202467755C>ACA2577215523BMPR2c.418+66C>A (n.418+66C>A)
c.349+66C>A (n.349+66C>A)
n.325+66C>A
2g.202467755C>TCA2662704405BMPR2c.418+66C>T (n.418+66C>T)
c.349+66C>T (n.349+66C>T)
n.325+66C>T
 gnomAD v4
2g.202467756T>CCA2662704406BMPR2c.418+67T>C (n.418+67T>C)
c.349+67T>C (n.349+67T>C)
n.325+67T>C
 gnomAD v4
2g.202467756T>GCA2662704407BMPR2c.418+67T>G (n.418+67T>G)
c.349+67T>G (n.349+67T>G)
n.325+67T>G
 gnomAD v4
2g.202467757T>GCA64532517BMPR2c.418+68T>G (n.418+68T>G)
c.349+68T>G (n.349+68T>G)
n.325+68T>G
 dbSNP
2g.202467757T=CA1321510838BMPR2c.418+68T= (n.418+68T=)
c.349+68T= (n.349+68T=)
n.325+68T=
2g.202467758A=CA1321510840BMPR2c.418+69A= (n.418+69A=)
c.349+69A= (n.349+69A=)
n.325+69A=
2g.202467758A>CCA2662704408BMPR2c.418+69A>C (n.418+69A>C)
c.349+69A>C (n.349+69A>C)
n.325+69A>C
 gnomAD v4
2g.202467758A>TCA539014697BMPR2c.418+69A>T (n.418+69A>T)
c.349+69A>T (n.349+69A>T)
n.325+69A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467763A=CA1321510841BMPR2c.418+74A= (n.418+74A=)
c.349+74A= (n.349+74A=)
n.325+74A=
2g.202467763A>CCA2662704409BMPR2c.418+74A>C (n.418+74A>C)
c.349+74A>C (n.349+74A>C)
n.325+74A>C
 gnomAD v4
2g.202467763A>GCA64532518BMPR2c.418+74A>G (n.418+74A>G)
c.349+74A>G (n.349+74A>G)
n.325+74A>G
 dbSNP
2g.202467764C>ACA2662704410BMPR2c.418+75C>A (n.418+75C>A)
c.349+75C>A (n.349+75C>A)
n.325+75C>A
 gnomAD v4
2g.202467764C>TCA2662704411BMPR2c.418+75C>T (n.418+75C>T)
c.349+75C>T (n.349+75C>T)
n.325+75C>T
 gnomAD v4
2g.202467766T>CCA2662704412BMPR2c.418+77T>C (n.418+77T>C)
c.349+77T>C (n.349+77T>C)
n.325+77T>C
 gnomAD v4
2g.202467767T>ACA2662704413BMPR2c.418+78T>A (n.418+78T>A)
c.349+78T>A (n.349+78T>A)
n.325+78T>A
 gnomAD v4
2g.202467767T>CCA1321510845BMPR2c.418+78T>C (n.418+78T>C)
c.349+78T>C (n.349+78T>C)
n.325+78T>C
 dbSNP
2g.202467767T>GCA64532519BMPR2c.418+78T>G (n.418+78T>G)
c.349+78T>G (n.349+78T>G)
n.325+78T>G
 dbSNP
2g.202467767T=CA1321510847BMPR2c.418+78T= (n.418+78T=)
c.349+78T= (n.349+78T=)
n.325+78T=
2g.202467768C>ACA647618538BMPR2c.418+79C>A (n.418+79C>A)
c.349+79C>A (n.349+79C>A)
n.325+79C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.202467768C=CA1321510849BMPR2c.418+79C= (n.418+79C=)
c.349+79C= (n.349+79C=)
n.325+79C=
2g.202467769A=CA1321510852BMPR2c.418+80A= (n.418+80A=)
c.349+80A= (n.349+80A=)
n.325+80A=
2g.202467769A>GCA64532520BMPR2c.418+80A>G (n.418+80A>G)
c.349+80A>G (n.349+80A>G)
n.325+80A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched