Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.202461237_202467808del	CA915941492	BMPR2	c.77-3572_418+119del	ClinVar
2	g.202465115_202467788del	CA915941495	BMPR2	c.247+136_418+99del c.176+132_349+99del n.154+136_325+99del	ClinVar
2	g.202465783_202470694del	CA915941496	BMPR2	c.247+804_418+3005del c.176+800_349+3005del n.154+804_325+3005del	ClinVar
2	g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC	CA1321509919	BMPR2	c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
2	g.202466927_202467684delinsGTAAAGTA	CA645293853	BMPR2	c.248-592_413delinsGTAAAGTA c.177-126_344delinsGTAAAGTA n.155-592_320delinsGTAAAGTA	ClinVar dbSNP
2	g.202467545del	CA915941498	BMPR2	c.274del (p.Gln92LysfsTer9) c.205del (p.Gln69LysfsTer9) n.181del	ClinVar dbSNP
2	g.202467545C>A	CA350399563	BMPR2	c.274C>A (p.Gln92Lys) c.205C>A (p.Gln69Lys) n.181C>A	gnomAD v4
2	g.202467545C=	CA1321510460	BMPR2	c.274C= (p.Gln92=) c.205C= (p.Gln69=) n.181C=
2	g.202467545C>G	CA350399564	BMPR2	c.274C>G (p.Gln92Glu) c.205C>G (p.Gln69Glu) n.181C>G
2	g.202467545C>T	CA350399562	BMPR2	c.274C>T (p.Gln92Ter) c.205C>T (p.Gln69Ter) n.181C>T	ClinVar dbSNP
2	g.202467546A=	CA1321510464	BMPR2	c.275A= (p.Gln92=) c.206A= (p.Gln69=) n.182A=
2	g.202467546A>C	CA2061079	BMPR2	c.275A>C (p.Gln92Pro) c.206A>C (p.Gln69Pro) n.182A>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202467546A>G	CA350399565	BMPR2	c.275A>G (p.Gln92Arg) c.206A>G (p.Gln69Arg) n.182A>G
2	g.202467546A>T	CA350399566	BMPR2	c.275A>T (p.Gln92Leu) c.206A>T (p.Gln69Leu) n.182A>T
2	g.202467547A=	CA1321510469	BMPR2	c.276A= (p.Gln92=) c.207A= (p.Gln69=) n.183A=
2	g.202467547A>C	CA2061080	BMPR2	c.276A>C (p.Gln92His) c.207A>C (p.Gln69His) n.183A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202467547A>G	CA430903797	BMPR2	c.276A>G (p.Gln92=) c.207A>G (p.Gln69=) n.183A>G	dbSNP gnomAD v2 gnomAD v4
2	g.202467547A>T	CA350399567	BMPR2	c.276A>T (p.Gln92His) c.207A>T (p.Gln69His) n.183A>T
2	g.202467549_202467550del	CA2586965547	BMPR2	c.278_279del (p.Glu93ValfsTer4) c.209_210del (p.Glu70ValfsTer4) n.185_186del
2	g.202467548G>A	CA350399570	BMPR2	c.277G>A (p.Glu93Lys) c.208G>A (p.Glu70Lys) n.184G>A	gnomAD v4
2	g.202467548G>C	CA350399568	BMPR2	c.277G>C (p.Glu93Gln) c.208G>C (p.Glu70Gln) n.184G>C	dbSNP gnomAD v4
2	g.202467548G=	CA1321510477	BMPR2	c.277G= (p.Glu93=) c.208G= (p.Glu70=) n.184G=
2	g.202467548G>T	CA350399569	BMPR2	c.277G>T (p.Glu93Ter) c.208G>T (p.Glu70Ter) n.184G>T
2	g.202467548dup	CA645294007	BMPR2	c.277dup (p.Glu93GlyfsTer5) c.208dup (p.Glu70GlyfsTer5) n.184dup	ClinVar dbSNP
2	g.202467549A>C	CA350399571	BMPR2	c.278A>C (p.Glu93Ala) c.209A>C (p.Glu70Ala) n.185A>C
2	g.202467549A>G	CA350399572	BMPR2	c.278A>G (p.Glu93Gly) c.209A>G (p.Glu70Gly) n.185A>G
2	g.202467549A>T	CA350399573	BMPR2	c.278A>T (p.Glu93Val) c.209A>T (p.Glu70Val) n.185A>T	gnomAD v4
2	g.202467550G>A	CA430903798	BMPR2	c.279G>A (p.Glu93=) c.210G>A (p.Glu70=) n.186G>A	dbSNP gnomAD v2 gnomAD v4
2	g.202467550G>C	CA350399574	BMPR2	c.279G>C (p.Glu93Asp) c.210G>C (p.Glu70Asp) n.186G>C
2	g.202467550G=	CA1321510481	BMPR2	c.279G= (p.Glu93=) c.210G= (p.Glu70=) n.186G=
2	g.202467550G>T	CA350399575	BMPR2	c.279G>T (p.Glu93Asp) c.210G>T (p.Glu70Asp) n.186G>T
2	g.202467551T>A	CA350399578	BMPR2	c.280T>A (p.Cys94Ser) c.211T>A (p.Cys71Ser) n.187T>A
2	g.202467551T>C	CA350399577	BMPR2	c.280T>C (p.Cys94Arg) c.211T>C (p.Cys71Arg) n.187T>C	ClinVar dbSNP
2	g.202467551T>G	CA350399576	BMPR2	c.280T>G (p.Cys94Gly) c.211T>G (p.Cys71Gly) n.187T>G	ClinVar dbSNP
2	g.202467551T=	CA1321510488	BMPR2	c.280T= (p.Cys94=) c.211T= (p.Cys71=) n.187T=
2	g.202467552G>A	CA350399579	BMPR2	c.281G>A (p.Cys94Tyr) c.212G>A (p.Cys71Tyr) n.188G>A
2	g.202467552G>C	CA350399581	BMPR2	c.281G>C (p.Cys94Ser) c.212G>C (p.Cys71Ser) n.188G>C
2	g.202467552G>T	CA350399580	BMPR2	c.281G>T (p.Cys94Phe) c.212G>T (p.Cys71Phe) n.188G>T
2	g.202467553T>A	CA350399582	BMPR2	c.282T>A (p.Cys94Ter) c.213T>A (p.Cys71Ter) n.189T>A
2	g.202467553T>C	CA430903799	BMPR2	c.282T>C (p.Cys94=) c.213T>C (p.Cys71=) n.189T>C
2	g.202467553T>G	CA350399583	BMPR2	c.282T>G (p.Cys94Trp) c.213T>G (p.Cys71Trp) n.189T>G
2	g.202467554C>A	CA350399584	BMPR2	c.283C>A (p.His95Asn) c.214C>A (p.His72Asn) n.190C>A
2	g.202467554C>G	CA350399585	BMPR2	c.283C>G (p.His95Asp) c.214C>G (p.His72Asp) n.190C>G
2	g.202467554C>T	CA350399586	BMPR2	c.283C>T (p.His95Tyr) c.214C>T (p.His72Tyr) n.190C>T	gnomAD v4
2	g.202467555A>C	CA350399587	BMPR2	c.284A>C (p.His95Pro) c.215A>C (p.His72Pro) n.191A>C
2	g.202467555A>G	CA350399588	BMPR2	c.284A>G (p.His95Arg) c.215A>G (p.His72Arg) n.191A>G	gnomAD v4
2	g.202467555A>T	CA350399589	BMPR2	c.284A>T (p.His95Leu) c.215A>T (p.His72Leu) n.191A>T
2	g.202467556C>A	CA350399590	BMPR2	c.285C>A (p.His95Gln) c.216C>A (p.His72Gln) n.192C>A
2	g.202467556C>G	CA350399591	BMPR2	c.285C>G (p.His95Gln) c.216C>G (p.His72Gln) n.192C>G
2	g.202467556C>T	CA430903800	BMPR2	c.285C>T (p.His95=) c.216C>T (p.His72=) n.192C>T

Number of alleles fetched