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.202464714G>T	CA2662703689	BMPR2	c.77-95G>T (n.77-95G>T)	gnomAD v4
2	g.202464715G>A	CA2753904534	BMPR2	c.77-94G>A (n.77-94G>A)
2	g.202464716A>G	CA2662703690	BMPR2	c.77-93A>G (n.77-93A>G)	gnomAD v4
2	g.202464716A>T	CA2753904535	BMPR2	c.77-93A>T (n.77-93A>T)
2	g.202464720T>A	CA2662703692	BMPR2	c.77-89T>A (n.77-89T>A)	gnomAD v4
2	g.202464720T>G	CA64532173	BMPR2	c.77-89T>G (n.77-89T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.202464720T=	CA1321507315	BMPR2	c.77-89T= (n.77-89T=)
2	g.202464722A=	CA1321507317	BMPR2	c.77-87A= (n.77-87A=)
2	g.202464722A>T	CA763417556	BMPR2	c.77-87A>T (n.77-87A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.202464725A>T	CA2577215486	BMPR2	c.77-84A>T (n.77-84A>T)
2	g.202464727G>A	CA2662703694	BMPR2	c.77-82G>A (n.77-82G>A)	gnomAD v4
2	g.202464728del	CA2662703696	BMPR2	c.77-81del (n.77-81del)	gnomAD v4
2	g.202464728T>C	CA2662703697	BMPR2	c.77-81T>C (n.77-81T>C)	gnomAD v4
2	g.202464729C>A	CA2577215487	BMPR2	c.77-80C>A (n.77-80C>A)	gnomAD v4
2	g.202464733C>A	CA2577215488	BMPR2	c.77-76C>A (n.77-76C>A)	gnomAD v4
2	g.202464733C=	CA1321507319	BMPR2	c.77-76C= (n.77-76C=)
2	g.202464733C>G	CA2662703701	BMPR2	c.77-76C>G (n.77-76C>G)	gnomAD v4
2	g.202464733C>T	CA64532174	BMPR2	c.77-76C>T (n.77-76C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464734G>A	CA64532175	BMPR2	c.77-75G>A (n.77-75G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464734G=	CA1321507322	BMPR2	c.77-75G= (n.77-75G=)
2	g.202464734G>T	CA2662703703	BMPR2	c.77-75G>T (n.77-75G>T)	gnomAD v4
2	g.202464735del	CA2662703704	BMPR2	c.77-74del (n.77-74del)	gnomAD v4
2	g.202464735G>A	CA2662703707	BMPR2	c.77-74G>A (n.77-74G>A)	gnomAD v4
2	g.202464735G>C	CA2662703709	BMPR2	c.77-74G>C (n.77-74G>C)	gnomAD v4
2	g.202464735G>T	CA2662703708	BMPR2	c.77-74G>T (n.77-74G>T)	gnomAD v4
2	g.202464736A>G	CA2662703711	BMPR2	c.77-73A>G (n.77-73A>G)	gnomAD v4
2	g.202464736A>T	CA2662703712	BMPR2	c.77-73A>T (n.77-73A>T)	gnomAD v4
2	g.202464739del	CA2662703713	BMPR2	c.77-70del (n.77-70del)	gnomAD v4
2	g.202464739A=	CA1321507323	BMPR2	c.77-70A= (n.77-70A=)
2	g.202464739A>T	CA763417563	BMPR2	c.77-70A>T (n.77-70A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.202464740G>A	CA1321507327	BMPR2	c.77-69G>A (n.77-69G>A)	dbSNP
2	g.202464740G=	CA1321507326	BMPR2	c.77-69G= (n.77-69G=)
2	g.202464740G>T	CA2662703716	BMPR2	c.77-69G>T (n.77-69G>T)	gnomAD v4
2	g.202464740_202464742delinsGAC	CA1321507324	BMPR2	c.77-69_77-67delinsGAC (n.77-69_77-67delinsGAC)
2	g.202464742_202464743del	CA763417564	BMPR2	c.77-67_77-66del (n.77-67_77-66del)	dbSNP gnomAD v3 gnomAD v4
2	g.202464742C>A	CA2577215489	BMPR2	c.77-67C>A (n.77-67C>A)	gnomAD v4
2	g.202464742_202464744delinsCAA	CA1321507335	BMPR2	c.77-67_77-65delinsCAA (n.77-67_77-65delinsCAA)
2	g.202464745dup	CA2662703723	BMPR2	c.77-64dup (n.77-64dup)	gnomAD v4
2	g.202464744_202464745del	CA763417565	BMPR2	c.77-65_77-64del (n.77-65_77-64del)	dbSNP gnomAD v3 gnomAD v4
2	g.202464745A=	CA1321507340	BMPR2	c.77-64A= (n.77-64A=)
2	g.202464745A>C	CA763417570	BMPR2	c.77-64A>C (n.77-64A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.202464746G>A	CA763417578	BMPR2	c.77-63G>A (n.77-63G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.202464746G=	CA1321507344	BMPR2	c.77-63G= (n.77-63G=)
2	g.202464746G>T	CA763417582	BMPR2	c.77-63G>T (n.77-63G>T)	dbSNP gnomAD v4
2	g.202464746_202464749del	CA2569531243	BMPR2	c.77-63_77-60del (n.77-63_77-60del)
2	g.202464747A>G	CA2577215490	BMPR2	c.77-62A>G (n.77-62A>G)
2	g.202464749T>A	CA2577215491	BMPR2	c.77-60T>A (n.77-60T>A)
2	g.202464750T>A	CA763417585	BMPR2	c.77-59T>A (n.77-59T>A)	dbSNP
2	g.202464750T=	CA1321507348	BMPR2	c.77-59T= (n.77-59T=)
2	g.202464751T>C	CA64532176	BMPR2	c.77-58T>C (n.77-58T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464751T=	CA1321507350	BMPR2	c.77-58T= (n.77-58T=)
2	g.202464752A>G	CA2662703726	BMPR2	c.77-57A>G (n.77-57A>G)	gnomAD v4
2	g.202464752A>T	CA2662703728	BMPR2	c.77-57A>T (n.77-57A>T)	gnomAD v4
2	g.202464753_202464756delinsTATA	CA1321507353	BMPR2	c.77-56_77-53delinsTATA (n.77-56_77-53delinsTATA)
2	g.202464754A=	CA1321507354	BMPR2	c.77-55A= (n.77-55A=)
2	g.202464754A>G	CA1321507355	BMPR2	c.77-55A>G (n.77-55A>G)	dbSNP gnomAD v4
2	g.202464754A>T	CA2577215492	BMPR2	c.77-55A>T (n.77-55A>T)
2	g.202464757_202464759del	CA1321507357	BMPR2	c.77-52_77-50del (n.77-52_77-50del)	dbSNP gnomAD v4
2	g.202464755T>G	CA1041292669	BMPR2	c.77-54T>G (n.77-54T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.202464755T=	CA1321507358	BMPR2	c.77-54T= (n.77-54T=)
2	g.202464756A>G	CA2577215493	BMPR2	c.77-53A>G (n.77-53A>G)
2	g.202464757A=	CA1321507360	BMPR2	c.77-52A= (n.77-52A=)
2	g.202464757A>C	CA64532177	BMPR2	c.77-52A>C (n.77-52A>C)	dbSNP
2	g.202464757A>G	CA64532178	BMPR2	c.77-52A>G (n.77-52A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.202464759A>G	CA2577215494	BMPR2	c.77-50A>G (n.77-50A>G)
2	g.202464764G>A	CA2701472376	BMPR2	c.77-45G>A (n.77-45G>A)	dbSNP
2	g.202464764G>C	CA2577215495	BMPR2	c.77-45G>C (n.77-45G>C)
2	g.202464764G>T	CA2662703733	BMPR2	c.77-45G>T (n.77-45G>T)	gnomAD v4
2	g.202464765A=	CA1321507363	BMPR2	c.77-44A= (n.77-44A=)
2	g.202464765A>C	CA2061026	BMPR2	c.77-44A>C (n.77-44A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464769C=	CA1321507366	BMPR2	c.77-40C= (n.77-40C=)
2	g.202464769C>G	CA2662703736	BMPR2	c.77-40C>G (n.77-40C>G)	gnomAD v4
2	g.202464769C>T	CA763417597	BMPR2	c.77-40C>T (n.77-40C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.202464770A=	CA1321507370	BMPR2	c.77-39A= (n.77-39A=)
2	g.202464770A>G	CA2061027	BMPR2	c.77-39A>G (n.77-39A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464770A>T	CA2662703743	BMPR2	c.77-39A>T (n.77-39A>T)	gnomAD v4
2	g.202464771_202464773del	CA2662703741	BMPR2	c.77-38_77-36del (n.77-38_77-36del)	gnomAD v4
2	g.202464772T>A	CA2662703747	BMPR2	c.77-37T>A (n.77-37T>A)	gnomAD v4
2	g.202464772_202464773delinsTA	CA1321507374	BMPR2	c.77-37_77-36delinsTA (n.77-37_77-36delinsTA)
2	g.202464772_202464817delinsTAAATAATTTGTCATTCCTTTATTTCCTTTATTTTAGCTTCGCAGA	CA1321507373	BMPR2	c.77-37_85delinsTAAATAATTTGTCATTCCTTTATTTCCTTTATTTTAGCTTCGCAGA
2	g.202464775del	CA539387768	BMPR2	c.77-34del (n.77-34del)	dbSNP gnomAD v2 gnomAD v4
2	g.202464774_202464818del	CA645293988	BMPR2	c.77-35_86del	ClinVar dbSNP
2	g.202464774A>G	CA2662703755	BMPR2	c.77-35A>G (n.77-35A>G)	gnomAD v4
2	g.202464774A>T	CA2577215496	BMPR2	c.77-35A>T (n.77-35A>T)
2	g.202464775A=	CA1321507392	BMPR2	c.77-34A= (n.77-34A=)
2	g.202464775A>C	CA539387769	BMPR2	c.77-34A>C (n.77-34A>C)	dbSNP gnomAD v2 gnomAD v4
2	g.202464775A>G	CA2753904536	BMPR2	c.77-34A>G (n.77-34A>G)
2	g.202464776T>C	CA2662703757	BMPR2	c.77-33T>C (n.77-33T>C)	gnomAD v4
2	g.202464777_202464780del	CA2662703756	BMPR2	c.77-32_77-29del (n.77-32_77-29del)	gnomAD v4
2	g.202464777A=	CA1321507396	BMPR2	c.77-32A= (n.77-32A=)
2	g.202464777A>C	CA539387770	BMPR2	c.77-32A>C (n.77-32A>C)	dbSNP gnomAD v2 gnomAD v4
2	g.202464777A>T	CA647618491	BMPR2	c.77-32A>T (n.77-32A>T)	COSMIC
2	g.202464778A>G	CA2662703759	BMPR2	c.77-31A>G (n.77-31A>G)	gnomAD v4
2	g.202464779T>C	CA2061028	BMPR2	c.77-30T>C (n.77-30T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202464779T=	CA1321507399	BMPR2	c.77-30T= (n.77-30T=)
2	g.202464781T>C	CA2577215497	BMPR2	c.77-28T>C (n.77-28T>C)
2	g.202464782G>A	CA2061029	BMPR2	c.77-27G>A (n.77-27G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202464782G>C	CA1321507405	BMPR2	c.77-27G>C (n.77-27G>C)	dbSNP
2	g.202464782G=	CA1321507403	BMPR2	c.77-27G= (n.77-27G=)
2	g.202464784C>A	CA2662703761	BMPR2	c.77-25C>A (n.77-25C>A)	gnomAD v4
2	g.202464784C=	CA1321507406	BMPR2	c.77-25C= (n.77-25C=)
2	g.202464784C>G	CA1321507407	BMPR2	c.77-25C>G (n.77-25C>G)	dbSNP
2	g.202464784C>T	CA1321507409	BMPR2	c.77-25C>T (n.77-25C>T)	dbSNP gnomAD v4
2	g.202464785A>C	CA647618494	BMPR2	c.77-24A>C (n.77-24A>C)	COSMIC
2	g.202464785_202464794delinsATTCCTTTAT	CA1321507410	BMPR2	c.77-24_77-15delinsATTCCTTTAT (n.77-24_77-15delinsATTCCTTTAT)
2	g.202464797_202464805del	CA763417618	BMPR2	c.77-12_77-4del (n.77-12_77-4del)	dbSNP gnomAD v3 gnomAD v4
2	g.202464787T>A	CA763417623	BMPR2	c.77-22T>A (n.77-22T>A)	dbSNP
2	g.202464787T=	CA1321507414	BMPR2	c.77-22T= (n.77-22T=)
2	g.202464788C>A	CA2662703762	BMPR2	c.77-21C>A (n.77-21C>A)	gnomAD v4
2	g.202464788C=	CA1321507418	BMPR2	c.77-21C= (n.77-21C=)
2	g.202464788C>T	CA64532179	BMPR2	c.77-21C>T (n.77-21C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464788_202464792delinsCCTTT	CA1321507420	BMPR2	c.77-21_77-17delinsCCTTT (n.77-21_77-17delinsCCTTT)
2	g.202464789C>T	CA2662703763	BMPR2	c.77-20C>T (n.77-20C>T)	gnomAD v4
2	g.202464789_202464792del	CA1321507421	BMPR2	c.77-20_77-17del (n.77-20_77-17del)	dbSNP
2	g.202464790T>A	CA2662703764	BMPR2	c.77-19T>A (n.77-19T>A)	gnomAD v4
2	g.202464790T>G	CA763417630	BMPR2	c.77-19T>G (n.77-19T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.202464790T=	CA1321507423	BMPR2	c.77-19T= (n.77-19T=)
2	g.202464793A>C	CA2753904537	BMPR2	c.77-16A>C (n.77-16A>C)
2	g.202464793_202464798delinsATTTCC	CA1321507426	BMPR2	c.77-16_77-11delinsATTTCC (n.77-16_77-11delinsATTTCC)
2	g.202464794T>C	CA2662703766	BMPR2	c.77-15T>C (n.77-15T>C)	gnomAD v4
2	g.202464796del	CA2662703765	BMPR2	c.77-13del (n.77-13del)	gnomAD v4
2	g.202464797_202464801del	CA916754262	BMPR2	c.77-12_77-8del (n.77-12_77-8del)	dbSNP gnomAD v4
2	g.202464795T>C	CA2061030	BMPR2	c.77-14T>C (n.77-14T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464795T=	CA1321507431	BMPR2	c.77-14T= (n.77-14T=)
2	g.202464797C>T	CA2662703769	BMPR2	c.77-12C>T (n.77-12C>T)	gnomAD v4
2	g.202464798C=	CA1321507434	BMPR2	c.77-11C= (n.77-11C=)
2	g.202464798C>G	CA1041292686	BMPR2	c.77-11C>G (n.77-11C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.202464801T>C	CA539387771	BMPR2	c.77-8T>C (n.77-8T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.202464801T=	CA1321507436	BMPR2	c.77-8T= (n.77-8T=)
2	g.202464803T>G	CA2697551491	BMPR2	c.77-6T>G (n.77-6T>G)	ClinVar
2	g.202464804_202464807del	CA2586965525	BMPR2	c.77-5_77-2del (n.77-5_77-2del)
2	g.202464806T>C	CA1041292689	BMPR2	c.77-3T>C (n.77-3T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.202464806T=	CA1321507439	BMPR2	c.77-3T= (n.77-3T=)
2	g.202464807A>C	CA350398924	BMPR2	c.77-2A>C (n.77-2A>C)
2	g.202464807A>G	CA350398926	BMPR2	c.77-2A>G (n.77-2A>G)
2	g.202464807A>T	CA350398929	BMPR2	c.77-2A>T (n.77-2A>T)
2	g.202464808G>A	CA350398932	BMPR2	c.77-1G>A (n.77-1G>A) c.1G>A (p.Ala1Thr)	ClinVar dbSNP
2	g.202464808G>C	CA350398933	BMPR2	c.77-1G>C (n.77-1G>C) c.1G>C (p.Ala1Pro)
2	g.202464808G=	CA1321507446	BMPR2	c.77-1G= (n.77-1G=) c.1G= (p.Ala1=)
2	g.202464808G>T	CA350398934	BMPR2	c.77-1G>T (n.77-1G>T) c.1G>T (p.Ala1Ser)
2	g.202464808_202464809delinsAA	CA2573134349	BMPR2	c.77-1_77delinsAA c.1_2delinsAA (p.Ala1Asn)	ClinVar dbSNP
2	g.202464809C>A	CA350398936	BMPR2	c.77C>A (p.Ala26Asp) c.2C>A (p.Ala1Asp)
2	g.202464809C>G	CA350398938	BMPR2	c.77C>G (p.Ala26Gly) c.2C>G (p.Ala1Gly)
2	g.202464809C>T	CA350398939	BMPR2	c.77C>T (p.Ala26Val) c.2C>T (p.Ala1Val)
2	g.202464810T>A	CA430903564	BMPR2	c.78T>A (p.Ala26=) c.3T>A (p.Ala1=)
2	g.202464810T>C	CA430903565	BMPR2	c.78T>C (p.Ala26=) c.3T>C (p.Ala1=)	gnomAD v4
2	g.202464810T>G	CA430903566	BMPR2	c.78T>G (p.Ala26=) c.3T>G (p.Ala1=)
2	g.202464811T>A	CA350398942	BMPR2	c.79T>A (p.Ser27Thr) c.4T>A (p.Ser2Thr)
2	g.202464811T>C	CA350398944	BMPR2	c.79T>C (p.Ser27Pro) c.4T>C (p.Ser2Pro)	COSMIC
2	g.202464811T>G	CA350398945	BMPR2	c.79T>G (p.Ser27Ala) c.4T>G (p.Ser2Ala)
2	g.202464812C>A	CA350398948	BMPR2	c.80C>A (p.Ser27Ter) c.5C>A (p.Ser2Ter)
2	g.202464812C=	CA1321507449	BMPR2	c.80C= (p.Ser27=) c.5C= (p.Ser2=)
2	g.202464812C>G	CA350398949	BMPR2	c.80C>G (p.Ser27Trp) c.5C>G (p.Ser2Trp)
2	g.202464812C>T	CA2061031	BMPR2	c.80C>T (p.Ser27Leu) c.5C>T (p.Ser2Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464813G>A	CA2061032	BMPR2	c.81G>A (p.Ser27=) c.6G>A (p.Ser2=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.202464813G>C	CA430903568	BMPR2	c.81G>C (p.Ser27=) c.6G>C (p.Ser2=)
2	g.202464813G=	CA1321507454	BMPR2	c.81G= (p.Ser27=) c.6G= (p.Ser2=)
2	g.202464813G>T	CA430903567	BMPR2	c.81G>T (p.Ser27=) c.6G>T (p.Ser2=)
2	g.202464814C>A	CA350398953	BMPR2	c.82C>A (p.Gln28Lys) c.7C>A (p.Gln3Lys)
2	g.202464814C=	CA1321507464	BMPR2	c.82C= (p.Gln28=) c.7C= (p.Gln3=)
2	g.202464814C>G	CA350398955	BMPR2	c.82C>G (p.Gln28Glu) c.7C>G (p.Gln3Glu)
2	g.202464814C>T	CA350398957	BMPR2	c.82C>T (p.Gln28Ter) c.7C>T (p.Gln3Ter)	ClinVar dbSNP

Number of alleles fetched