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.202467594T>A	CA350399666	BMPR2	c.323T>A (p.Ile108Asn) c.254T>A (p.Ile85Asn) n.230T>A
2	g.202467594T>C	CA2061091	BMPR2	c.323T>C (p.Ile108Thr) c.254T>C (p.Ile85Thr) n.230T>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202467594T>G	CA350399667	BMPR2	c.323T>G (p.Ile108Ser) c.254T>G (p.Ile85Ser) n.230T>G
2	g.202467594T=	CA1321510582	BMPR2	c.323T= (p.Ile108=) c.254T= (p.Ile85=) n.230T=
2	g.202467595T>A	CA430903832	BMPR2	c.324T>A (p.Ile108=) c.255T>A (p.Ile85=) n.231T>A
2	g.202467595T>C	CA430903833	BMPR2	c.324T>C (p.Ile108=) c.255T>C (p.Ile85=) n.231T>C
2	g.202467595T>G	CA350399668	BMPR2	c.324T>G (p.Ile108Met) c.255T>G (p.Ile85Met) n.231T>G
2	g.202467596C>A	CA350399669	BMPR2	c.325C>A (p.Gln109Lys) c.256C>A (p.Gln86Lys) n.232C>A	dbSNP
2	g.202467596C=	CA1321510585	BMPR2	c.325C= (p.Gln109=) c.256C= (p.Gln86=) n.232C=
2	g.202467596C>G	CA350399670	BMPR2	c.325C>G (p.Gln109Glu) c.256C>G (p.Gln86Glu) n.232C>G
2	g.202467596C>T	CA350399671	BMPR2	c.325C>T (p.Gln109Ter) c.256C>T (p.Gln86Ter) n.232C>T
2	g.202467597A>C	CA350399672	BMPR2	c.326A>C (p.Gln109Pro) c.257A>C (p.Gln86Pro) n.233A>C
2	g.202467597A>G	CA350399673	BMPR2	c.326A>G (p.Gln109Arg) c.257A>G (p.Gln86Arg) n.233A>G
2	g.202467597A>T	CA350399674	BMPR2	c.326A>T (p.Gln109Leu) c.257A>T (p.Gln86Leu) n.233A>T
2	g.202467598G>A	CA64532512	BMPR2	c.327G>A (p.Gln109=) c.258G>A (p.Gln86=) n.234G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.202467598G>C	CA350399675	BMPR2	c.327G>C (p.Gln109His) c.258G>C (p.Gln86His) n.234G>C
2	g.202467598G=	CA1321510587	BMPR2	c.327G= (p.Gln109=) c.258G= (p.Gln86=) n.234G=
2	g.202467598G>T	CA350399676	BMPR2	c.327G>T (p.Gln109His) c.258G>T (p.Gln86His) n.234G>T
2	g.202467599A>C	CA350399677	BMPR2	c.328A>C (p.Asn110His) c.259A>C (p.Asn87His) n.235A>C
2	g.202467599A>G	CA350399678	BMPR2	c.328A>G (p.Asn110Asp) c.259A>G (p.Asn87Asp) n.235A>G
2	g.202467599A>T	CA350399679	BMPR2	c.328A>T (p.Asn110Tyr) c.259A>T (p.Asn87Tyr) n.235A>T
2	g.202467600A=	CA1321510592	BMPR2	c.329A= (p.Asn110=) c.260A= (p.Asn87=) n.236A=
2	g.202467600A>C	CA350399680	BMPR2	c.329A>C (p.Asn110Thr) c.260A>C (p.Asn87Thr) n.236A>C
2	g.202467600A>G	CA350399681	BMPR2	c.329A>G (p.Asn110Ser) c.260A>G (p.Asn87Ser) n.236A>G	dbSNP gnomAD v4
2	g.202467600A>T	CA350399682	BMPR2	c.329A>T (p.Asn110Ile) c.260A>T (p.Asn87Ile) n.236A>T
2	g.202467601T>A	CA350399683	BMPR2	c.330T>A (p.Asn110Lys) c.261T>A (p.Asn87Lys) n.237T>A
2	g.202467601T>C	CA430903834	BMPR2	c.330T>C (p.Asn110=) c.261T>C (p.Asn87=) n.237T>C
2	g.202467601T>G	CA350399684	BMPR2	c.330T>G (p.Asn110Lys) c.261T>G (p.Asn87Lys) n.237T>G
2	g.202467602G>A	CA350399685	BMPR2	c.331G>A (p.Gly111Arg) c.262G>A (p.Gly88Arg) n.238G>A
2	g.202467602G>C	CA350399686	BMPR2	c.331G>C (p.Gly111Arg) c.262G>C (p.Gly88Arg) n.238G>C
2	g.202467602G>T	CA350399687	BMPR2	c.331G>T (p.Gly111Ter) c.262G>T (p.Gly88Ter) n.238G>T
2	g.202467603G>A	CA350399689	BMPR2	c.332G>A (p.Gly111Glu) c.263G>A (p.Gly88Glu) n.239G>A
2	g.202467603G>C	CA350399690	BMPR2	c.332G>C (p.Gly111Ala) c.263G>C (p.Gly88Ala) n.239G>C
2	g.202467603G=	CA1321510596	BMPR2	c.332G= (p.Gly111=) c.263G= (p.Gly88=) n.239G=
2	g.202467603G>T	CA350399688	BMPR2	c.332G>T (p.Gly111Val) c.263G>T (p.Gly88Val) n.239G>T	dbSNP gnomAD v2
2	g.202467604A>C	CA430903835	BMPR2	c.333A>C (p.Gly111=) c.264A>C (p.Gly88=) n.240A>C
2	g.202467604A>G	CA430903836	BMPR2	c.333A>G (p.Gly111=) c.264A>G (p.Gly88=) n.240A>G
2	g.202467604A>T	CA430903837	BMPR2	c.333A>T (p.Gly111=) c.264A>T (p.Gly88=) n.240A>T
2	g.202467605A>C	CA350399693	BMPR2	c.334A>C (p.Thr112Pro) c.265A>C (p.Thr89Pro) n.241A>C
2	g.202467605A>G	CA350399691	BMPR2	c.334A>G (p.Thr112Ala) c.265A>G (p.Thr89Ala) n.241A>G	gnomAD v4
2	g.202467605A>T	CA350399692	BMPR2	c.334A>T (p.Thr112Ser) c.265A>T (p.Thr89Ser) n.241A>T
2	g.202467606C>A	CA350399694	BMPR2	c.335C>A (p.Thr112Lys) c.266C>A (p.Thr89Lys) n.242C>A	ClinVar dbSNP gnomAD v4
2	g.202467606C>G	CA350399695	BMPR2	c.335C>G (p.Thr112Arg) c.266C>G (p.Thr89Arg) n.242C>G
2	g.202467606C>T	CA350399696	BMPR2	c.335C>T (p.Thr112Ile) c.266C>T (p.Thr89Ile) n.242C>T
2	g.202467607A>C	CA430903838	BMPR2	c.336A>C (p.Thr112=) c.267A>C (p.Thr89=) n.243A>C

Number of alleles fetched