Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.202461237_202467808del	CA915941492	BMPR2	c.77-3572_418+119del	ClinVar
2	g.202462494_202466873del	CA915941493	BMPR2	c.77-2315_248-646del	ClinVar
2	g.202464900del	CA645293992	BMPR2	c.168del (p.Thr57GlnfsTer21) c.93del (p.Thr32GlnfsTer21) n.75del	ClinVar dbSNP
2	g.202464900G>A	CA430903623	BMPR2	c.168G>A (p.Gly56=) c.93G>A (p.Gly31=) n.75G>A	dbSNP gnomAD v4
2	g.202464900G>C	CA430903624	BMPR2	c.168G>C (p.Gly56=) c.93G>C (p.Gly31=) n.75G>C
2	g.202464900G=	CA1321507665	BMPR2	c.168G= (p.Gly56=) c.93G= (p.Gly31=) n.75G=
2	g.202464900G>T	CA430903625	BMPR2	c.168G>T (p.Gly56=) c.93G>T (p.Gly31=) n.75G>T
2	g.202464901A>C	CA350399312	BMPR2	c.169A>C (p.Thr57Pro) c.94A>C (p.Thr32Pro) n.76A>C
2	g.202464901A>G	CA350399313	BMPR2	c.169A>G (p.Thr57Ala) c.94A>G (p.Thr32Ala) n.76A>G
2	g.202464901A>T	CA350399314	BMPR2	c.169A>T (p.Thr57Ser) c.94A>T (p.Thr32Ser) n.76A>T
2	g.202464902C>A	CA350399317	BMPR2	c.170C>A (p.Thr57Lys) c.95C>A (p.Thr32Lys) n.77C>A
2	g.202464902C>G	CA350399316	BMPR2	c.170C>G (p.Thr57Arg) c.95C>G (p.Thr32Arg) n.77C>G
2	g.202464902C>T	CA350399315	BMPR2	c.170C>T (p.Thr57Ile) c.95C>T (p.Thr32Ile) n.77C>T
2	g.202464903A=	CA1321507670	BMPR2	c.171A= (p.Thr57=) c.96A= (p.Thr32=) n.78A=
2	g.202464903A>C	CA430903626	BMPR2	c.171A>C (p.Thr57=) c.96A>C (p.Thr32=) n.78A>C
2	g.202464903A>G	CA430903627	BMPR2	c.171A>G (p.Thr57=) c.96A>G (p.Thr32=) n.78A>G
2	g.202464903A>T	CA430903628	BMPR2	c.171A>T (p.Thr57=) c.96A>T (p.Thr32=) n.78A>T	dbSNP gnomAD v2 gnomAD v4
2	g.202464904_202464906del	CA2739279831	BMPR2	c.172_174del (p.Ile58del) c.97_99del (p.Ile33del) n.79_81del	ClinVar
2	g.202464904A=	CA1321507676	BMPR2	c.172A= (p.Ile58=) c.97A= (p.Ile33=) n.79A=
2	g.202464904A>C	CA350399318	BMPR2	c.172A>C (p.Ile58Leu) c.97A>C (p.Ile33Leu) n.79A>C
2	g.202464904A>G	CA350399319	BMPR2	c.172A>G (p.Ile58Val) c.97A>G (p.Ile33Val) n.79A>G	dbSNP
2	g.202464904A>T	CA350399320	BMPR2	c.172A>T (p.Ile58Leu) c.97A>T (p.Ile33Leu) n.79A>T
2	g.202464906_202464907dup	CA10587992	BMPR2	c.174_175dup (p.Leu59TyrfsTer20) c.99_100dup (p.Leu34TyrfsTer20) n.81_82dup	ClinVar dbSNP
2	g.202464905T>A	CA350399321	BMPR2	c.173T>A (p.Ile58Lys) c.98T>A (p.Ile33Lys) n.80T>A
2	g.202464905T>C	CA350399322	BMPR2	c.173T>C (p.Ile58Thr) c.98T>C (p.Ile33Thr) n.80T>C
2	g.202464905T>G	CA350399323	BMPR2	c.173T>G (p.Ile58Arg) c.98T>G (p.Ile33Arg) n.80T>G
2	g.202464908_202464910del	CA2662703809	BMPR2	c.176_178del (p.Leu59del) c.101_103del (p.Leu34del) n.83_85del	gnomAD v4
2	g.202464906A=	CA1321507679	BMPR2	c.174A= (p.Ile58=) c.99A= (p.Ile33=) n.81A=
2	g.202464906A>C	CA430903629	BMPR2	c.174A>C (p.Ile58=) c.99A>C (p.Ile33=) n.81A>C
2	g.202464906A>G	CA2061046	BMPR2	c.174A>G (p.Ile58Met) c.99A>G (p.Ile33Met) n.81A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202464906A>T	CA430903630	BMPR2	c.174A>T (p.Ile58=) c.99A>T (p.Ile33=) n.81A>T
2	g.202464907T>A	CA350399324	BMPR2	c.175T>A (p.Leu59Ile) c.100T>A (p.Leu34Ile) n.82T>A
2	g.202464907T>C	CA430903631	BMPR2	c.175T>C (p.Leu59=) c.100T>C (p.Leu34=) n.82T>C	ClinVar gnomAD v4
2	g.202464907T>G	CA350399325	BMPR2	c.175T>G (p.Leu59Val) c.100T>G (p.Leu34Val) n.82T>G
2	g.202464908T>A	CA350399326	BMPR2	c.176T>A (p.Leu59Ter) c.101T>A (p.Leu34Ter) n.83T>A
2	g.202464908T>C	CA350399327	BMPR2	c.176T>C (p.Leu59Ser) c.101T>C (p.Leu34Ser) n.83T>C
2	g.202464908T>G	CA350399328	BMPR2	c.176T>G (p.Leu59Ter) c.101T>G (p.Leu34Ter) n.83T>G
2	g.202464909A>C	CA350399329	BMPR2	c.177A>C (p.Leu59Phe) c.102A>C (p.Leu34Phe) n.84A>C
2	g.202464909A>G	CA430903632	BMPR2	c.177A>G (p.Leu59=) c.102A>G (p.Leu34=) n.84A>G
2	g.202464909A>T	CA350399330	BMPR2	c.177A>T (p.Leu59Phe) c.102A>T (p.Leu34Phe) n.84A>T
2	g.202464910T>A	CA350399331	BMPR2	c.178T>A (p.Cys60Ser) c.103T>A (p.Cys35Ser) n.85T>A
2	g.202464910T>C	CA350399332	BMPR2	c.178T>C (p.Cys60Arg) c.103T>C (p.Cys35Arg) n.85T>C	ClinVar dbSNP
2	g.202464910T>G	CA350399333	BMPR2	c.178T>G (p.Cys60Gly) c.103T>G (p.Cys35Gly) n.85T>G	ClinVar dbSNP
2	g.202464910T=	CA1321507683	BMPR2	c.178T= (p.Cys60=) c.103T= (p.Cys35=) n.85T=
2	g.202464911G>A	CA350399334	BMPR2	c.179G>A (p.Cys60Tyr) c.104G>A (p.Cys35Tyr) n.86G>A	ClinVar dbSNP
2	g.202464911G>C	CA350399335	BMPR2	c.179G>C (p.Cys60Ser) c.104G>C (p.Cys35Ser) n.86G>C
2	g.202464911G=	CA1321507687	BMPR2	c.179G= (p.Cys60=) c.104G= (p.Cys35=) n.86G=
2	g.202464911G>T	CA350399336	BMPR2	c.179G>T (p.Cys60Phe) c.104G>T (p.Cys35Phe) n.86G>T	ClinVar dbSNP
2	g.202464912C>A	CA350399337	BMPR2	c.180C>A (p.Cys60Ter) c.105C>A (p.Cys35Ter) n.87C>A	COSMIC
2	g.202464912C>G	CA350399338	BMPR2	c.180C>G (p.Cys60Trp) c.105C>G (p.Cys35Trp) n.87C>G

Number of alleles fetched