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.202467669_202467670delinsCT	CA1321510685	BMPR2	c.398_399delinsCT (p.Pro133=) c.329_330delinsCT (p.Pro110=) n.305_306delinsCT
2	g.202467670del	CA645294016	BMPR2	c.399del (p.Pro134LeufsTer18) c.330del (p.Pro111LeufsTer18) n.306del	ClinVar dbSNP
2	g.202467670T>A	CA430903880	BMPR2	c.399T>A (p.Pro133=) c.330T>A (p.Pro110=) n.306T>A
2	g.202467670T>C	CA430903882	BMPR2	c.399T>C (p.Pro133=) c.330T>C (p.Pro110=) n.306T>C
2	g.202467670T>G	CA430903881	BMPR2	c.399T>G (p.Pro133=) c.330T>G (p.Pro110=) n.306T>G
2	g.202467671C>A	CA350399849	BMPR2	c.400C>A (p.Pro134Thr) c.331C>A (p.Pro111Thr) n.307C>A
2	g.202467671C>G	CA350399850	BMPR2	c.400C>G (p.Pro134Ala) c.331C>G (p.Pro111Ala) n.307C>G
2	g.202467671C>T	CA350399851	BMPR2	c.400C>T (p.Pro134Ser) c.331C>T (p.Pro111Ser) n.307C>T	gnomAD v4
2	g.202467672C>A	CA350399852	BMPR2	c.401C>A (p.Pro134His) c.332C>A (p.Pro111His) n.308C>A
2	g.202467672C>G	CA350399853	BMPR2	c.401C>G (p.Pro134Arg) c.332C>G (p.Pro111Arg) n.308C>G	COSMIC
2	g.202467672C>T	CA350399854	BMPR2	c.401C>T (p.Pro134Leu) c.332C>T (p.Pro111Leu) n.308C>T	gnomAD v4
2	g.202467673T>A	CA2061093	BMPR2	c.402T>A (p.Pro134=) c.333T>A (p.Pro111=) n.309T>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202467673T>C	CA430903883	BMPR2	c.402T>C (p.Pro134=) c.333T>C (p.Pro111=) n.309T>C
2	g.202467673T>G	CA430903884	BMPR2	c.402T>G (p.Pro134=) c.333T>G (p.Pro111=) n.309T>G
2	g.202467673T=	CA1321510689	BMPR2	c.402T= (p.Pro134=) c.333T= (p.Pro111=) n.309T=
2	g.202467674G>A	CA350399855	BMPR2	c.403G>A (p.Asp135Asn) c.334G>A (p.Asp112Asn) n.310G>A
2	g.202467674G>C	CA350399856	BMPR2	c.403G>C (p.Asp135His) c.334G>C (p.Asp112His) n.310G>C
2	g.202467674G>T	CA350399857	BMPR2	c.403G>T (p.Asp135Tyr) c.334G>T (p.Asp112Tyr) n.310G>T
2	g.202467674_202467676delinsGAC	CA1321510692	BMPR2	c.403_405delinsGAC (p.Asp135=) c.334_336delinsGAC (p.Asp112=) n.310_312delinsGAC
2	g.202467674_202467679delinsGACACA	CA1321510693	BMPR2	c.403_408delinsGACACA (p.Asp135=) c.334_339delinsGACACA (p.Asp112=) n.310_315delinsGACACA
2	g.202467675A>C	CA350399858	BMPR2	c.404A>C (p.Asp135Ala) c.335A>C (p.Asp112Ala) n.311A>C
2	g.202467675A>G	CA350399859	BMPR2	c.404A>G (p.Asp135Gly) c.335A>G (p.Asp112Gly) n.311A>G
2	g.202467675A>T	CA350399860	BMPR2	c.404A>T (p.Asp135Val) c.335A>T (p.Asp112Val) n.311A>T
2	g.202467678_202467679del	CA645294018	BMPR2	c.407_408del (p.Thr136AsnfsTer10) c.338_339del (p.Thr113AsnfsTer10) n.314_315del	ClinVar dbSNP
2	g.202467679_202467683del	CA645294017	BMPR2	c.408_412del (p.Pro138GlnfsTer7) c.339_343del (p.Pro115GlnfsTer7) n.315_319del	ClinVar dbSNP
2	g.202467676C>A	CA350399862	BMPR2	c.405C>A (p.Asp135Glu) c.336C>A (p.Asp112Glu) n.312C>A
2	g.202467676C>G	CA350399861	BMPR2	c.405C>G (p.Asp135Glu) c.336C>G (p.Asp112Glu) n.312C>G
2	g.202467676C>T	CA430903885	BMPR2	c.405C>T (p.Asp135=) c.336C>T (p.Asp112=) n.312C>T
2	g.202467677A>C	CA350399863	BMPR2	c.406A>C (p.Thr136Pro) c.337A>C (p.Thr113Pro) n.313A>C
2	g.202467677A>G	CA350399864	BMPR2	c.406A>G (p.Thr136Ala) c.337A>G (p.Thr113Ala) n.313A>G
2	g.202467677A>T	CA350399865	BMPR2	c.406A>T (p.Thr136Ser) c.337A>T (p.Thr113Ser) n.313A>T
2	g.202467680_202467682del	CA2662704388	BMPR2	c.409_411del (p.Thr137del) c.340_342del (p.Thr114del) n.316_318del	gnomAD v4
2	g.202467678C>A	CA350399866	BMPR2	c.407C>A (p.Thr136Lys) c.338C>A (p.Thr113Lys) n.314C>A
2	g.202467678C>G	CA350399867	BMPR2	c.407C>G (p.Thr136Arg) c.338C>G (p.Thr113Arg) n.314C>G
2	g.202467678C>T	CA350399868	BMPR2	c.407C>T (p.Thr136Ile) c.338C>T (p.Thr113Ile) n.314C>T
2	g.202467679A=	CA1321510703	BMPR2	c.408A= (p.Thr136=) c.339A= (p.Thr113=) n.315A=
2	g.202467679A>C	CA430903887	BMPR2	c.408A>C (p.Thr136=) c.339A>C (p.Thr113=) n.315A>C
2	g.202467679A>G	CA2061094	BMPR2	c.408A>G (p.Thr136=) c.339A>G (p.Thr113=) n.315A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202467679A>T	CA430903886	BMPR2	c.408A>T (p.Thr136=) c.339A>T (p.Thr113=) n.315A>T
2	g.202467680dup	CA2573134354	BMPR2	c.409dup (p.Thr137AsnfsTer10) c.340dup (p.Thr114AsnfsTer10) n.316dup	ClinVar dbSNP
2	g.202467680A=	CA1321510709	BMPR2	c.409A= (p.Thr137=) c.340A= (p.Thr114=) n.316A=
2	g.202467680A>C	CA64532513	BMPR2	c.409A>C (p.Thr137Pro) c.340A>C (p.Thr114Pro) n.316A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202467680A>G	CA350399869	BMPR2	c.409A>G (p.Thr137Ala) c.340A>G (p.Thr114Ala) n.316A>G	dbSNP gnomAD v4
2	g.202467680A>T	CA350399870	BMPR2	c.409A>T (p.Thr137Ser) c.340A>T (p.Thr114Ser) n.316A>T
2	g.202467681C>A	CA350399871	BMPR2	c.410C>A (p.Thr137Lys) c.341C>A (p.Thr114Lys) n.317C>A

Number of alleles fetched