Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.202369396_202377723del	CA1139657640			ClinVar
2	g.202373247_202381017del	CA915942366			ClinVar
2	g.202377453C>G	CA2577215460	BMPR2	c.-22C>G (n.-22C>G)
2	g.202377455G>A	CA2060989	BMPR2	c.-20G>A (n.-20G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377455G>C	CA64522357	BMPR2	c.-20G>C (n.-20G>C)	dbSNP
2	g.202377455G=	CA1321474650	BMPR2	c.-20G= (n.-20G=)
2	g.202377455G>T	CA2662703802	BMPR2	c.-20G>T (n.-20G>T)	gnomAD v4
2	g.202377457T>C	CA2060990	BMPR2	c.-18T>C (n.-18T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377457T=	CA1321474651	BMPR2	c.-18T= (n.-18T=)
2	g.202377459C=	CA1321474652	BMPR2	c.-16C= (n.-16C=)
2	g.202377459C>T	CA1321474653	BMPR2	c.-16C>T (n.-16C>T)	dbSNP
2	g.202377459_202377460insG	CA647622011	BMPR2	c.-16_-15insG (n.-16_-15insG)	COSMIC
2	g.202377460T>C	CA2662703803	BMPR2	c.-15T>C (n.-15T>C)	gnomAD v4
2	g.202377461T>C	CA2662703804	BMPR2	c.-14T>C (n.-14T>C)	gnomAD v4
2	g.202377462G>A	CA2577215461	BMPR2	c.-13G>A (n.-13G>A)
2	g.202377463G>A	CA64522358	BMPR2	c.-12G>A (n.-12G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.202377463G=	CA1321474654	BMPR2	c.-12G= (n.-12G=)
2	g.202377463G>T	CA2060991	BMPR2	c.-12G>T (n.-12G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377464C=	CA1321474655	BMPR2	c.-11C= (n.-11C=)
2	g.202377464C>T	CA2060992	BMPR2	c.-11C>T (n.-11C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377465T>A	CA2662703805	BMPR2	c.-10T>A (n.-10T>A)	gnomAD v4
2	g.202377465T>C	CA2662703806	BMPR2	c.-10T>C (n.-10T>C)	gnomAD v4
2	g.202377465T>G	CA2662703807	BMPR2	c.-10T>G (n.-10T>G)	gnomAD v4
2	g.202377467G=	CA1321474656	BMPR2	c.-8G= (n.-8G=)
2	g.202377467G>T	CA2060993	BMPR2	c.-8G>T (n.-8G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377469C=	CA1321474657	BMPR2	c.-6C= (n.-6C=)
2	g.202377469C>T	CA539001101	BMPR2	c.-6C>T (n.-6C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.202377470C=	CA1321474659	BMPR2	c.-5C= (n.-5C=)
2	g.202377470C>T	CA1321474658	BMPR2	c.-5C>T (n.-5C>T)	dbSNP gnomAD v4
2	g.202377471A=	CA1321474660	BMPR2	c.-4A= (n.-4A=)
2	g.202377471A>G	CA2060994	BMPR2	c.-4A>G (n.-4A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377472G>T	CA2577215462	BMPR2	c.-3G>T (n.-3G>T)
2	g.202377473G>A	CA539001105	BMPR2	c.-2G>A (n.-2G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377473G=	CA1321474661	BMPR2	c.-2G= (n.-2G=)
2	g.202377474G>C	CA2662703808	BMPR2	c.-1G>C (n.-1G>C)	gnomAD v4
2	g.202377475A>C	CA350396499	BMPR2	c.1A>C (p.Met1Leu)
2	g.202377475A>G	CA350396501	BMPR2	c.1A>G (p.Met1Val)
2	g.202377475A>T	CA350396502	BMPR2	c.1A>T (p.Met1Leu)
2	g.202377476T>A	CA350396507	BMPR2	c.2T>A (p.Met1Lys)
2	g.202377476T>C	CA350396508	BMPR2	c.2T>C (p.Met1Thr)
2	g.202377476T>G	CA350396505	BMPR2	c.2T>G (p.Met1Arg)
2	g.202377477G>A	CA350396511	BMPR2	c.3G>A (p.Met1Ile)
2	g.202377477G>C	CA350396513	BMPR2	c.3G>C (p.Met1Ile)
2	g.202377477G>T	CA350396514	BMPR2	c.3G>T (p.Met1Ile)
2	g.202377478A=	CA1321474662	BMPR2	c.4A= (p.Thr2=)
2	g.202377478A>C	CA350396517	BMPR2	c.4A>C (p.Thr2Pro)
2	g.202377478A>G	CA350396519	BMPR2	c.4A>G (p.Thr2Ala)	gnomAD v4
2	g.202377478A>T	CA350396520	BMPR2	c.4A>T (p.Thr2Ser)	dbSNP
2	g.202377479C>A	CA350396523	BMPR2	c.5C>A (p.Thr2Asn)
2	g.202377479C>G	CA350396525	BMPR2	c.5C>G (p.Thr2Ser)	gnomAD v4
2	g.202377479C>T	CA350396526	BMPR2	c.5C>T (p.Thr2Ile)
2	g.202377480T>A	CA430892879	BMPR2	c.6T>A (p.Thr2=)
2	g.202377480T>C	CA430892881	BMPR2	c.6T>C (p.Thr2=)
2	g.202377480T>G	CA430892882	BMPR2	c.6T>G (p.Thr2=)
2	g.202377481del	CA2586970989	BMPR2	c.7del (p.Ser3ProfsTer?)
2	g.202377481T>A	CA350396529	BMPR2	c.7T>A (p.Ser3Thr)
2	g.202377481T>C	CA2060995	BMPR2	c.7T>C (p.Ser3Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377481T>G	CA350396531	BMPR2	c.7T>G (p.Ser3Ala)
2	g.202377481T=	CA1321474663	BMPR2	c.7T= (p.Ser3=)
2	g.202377482C>A	CA350396534	BMPR2	c.8C>A (p.Ser3Tyr)
2	g.202377482C>G	CA350396535	BMPR2	c.8C>G (p.Ser3Cys)
2	g.202377482C>T	CA350396537	BMPR2	c.8C>T (p.Ser3Phe)
2	g.202377483dup	CA645293855	BMPR2	c.9dup (p.Ser4LeufsTer?)	ClinVar dbSNP
2	g.202377483C>A	CA2060996	BMPR2	c.9C>A (p.Ser3=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377483C=	CA1321474664	BMPR2	c.9C= (p.Ser3=)
2	g.202377483C>G	CA430892895	BMPR2	c.9C>G (p.Ser3=)
2	g.202377483C>T	CA430892898	BMPR2	c.9C>T (p.Ser3=)	dbSNP gnomAD v3 gnomAD v4
2	g.202377484_202377485dup	CA658761128	BMPR2	c.10_11dup (p.Leu5ArgfsTer?)
2	g.202377484T>A	CA350396541	BMPR2	c.10T>A (p.Ser4Thr)
2	g.202377484T>C	CA350396543	BMPR2	c.10T>C (p.Ser4Pro)
2	g.202377484T>G	CA350396544	BMPR2	c.10T>G (p.Ser4Ala)
2	g.202377485C>A	CA350396547	BMPR2	c.11C>A (p.Ser4Ter)
2	g.202377485C=	CA1321474665	BMPR2	c.11C= (p.Ser4=)
2	g.202377485C>G	CA350396548	BMPR2	c.11C>G (p.Ser4Trp)
2	g.202377485C>T	CA64522359	BMPR2	c.11C>T (p.Ser4Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.202377485_202377486delinsCG	CA1321474666	BMPR2	c.11_12delinsCG (p.Ser4=)
2	g.202377486del	CA1139657642	BMPR2	c.12del (p.Leu5CysfsTer?)	ClinVar dbSNP
2	g.202377486G>A	CA430892914	BMPR2	c.12G>A (p.Ser4=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377486G>C	CA430892915	BMPR2	c.12G>C (p.Ser4=)	gnomAD v4
2	g.202377486G=	CA1321474667	BMPR2	c.12G= (p.Ser4=)
2	g.202377486G>T	CA430892909	BMPR2	c.12G>T (p.Ser4=)
2	g.202377487C>A	CA350396552	BMPR2	c.13C>A (p.Leu5Met)
2	g.202377487C>G	CA350396554	BMPR2	c.13C>G (p.Leu5Val)
2	g.202377487C>T	CA430892920	BMPR2	c.13C>T (p.Leu5=)
2	g.202377488T>A	CA350396556	BMPR2	c.14T>A (p.Leu5Gln)
2	g.202377488T>C	CA350396558	BMPR2	c.14T>C (p.Leu5Pro)	ClinVar
2	g.202377488T>G	CA350396559	BMPR2	c.14T>G (p.Leu5Arg)	dbSNP gnomAD v4
2	g.202377488T=	CA1321474668	BMPR2	c.14T= (p.Leu5=)
2	g.202377488_202377493delinsTGCAGC	CA1321474669	BMPR2	c.14_19delinsTGCAGC (p.Leu5=)
2	g.202377489G>A	CA430892926	BMPR2	c.15G>A (p.Leu5=)	dbSNP
2	g.202377489G>C	CA430892928	BMPR2	c.15G>C (p.Leu5=)
2	g.202377489G>T	CA430892930	BMPR2	c.15G>T (p.Leu5=)
2	g.202377490_202377494del	CA645293856	BMPR2	c.16_20del (p.Gln6AlafsTer30)	ClinVar dbSNP
2	g.202377490C>A	CA350396562	BMPR2	c.16C>A (p.Gln6Lys)
2	g.202377490C=	CA1321474670	BMPR2	c.16C= (p.Gln6=)
2	g.202377490C>G	CA350396564	BMPR2	c.16C>G (p.Gln6Glu)
2	g.202377490C>T	CA10587991	BMPR2	c.16C>T (p.Gln6Ter)	ClinVar dbSNP COSMIC
2	g.202377491A>C	CA350396566	BMPR2	c.17A>C (p.Gln6Pro)
2	g.202377491A>G	CA350396570	BMPR2	c.17A>G (p.Gln6Arg)
2	g.202377491A>T	CA350396569	BMPR2	c.17A>T (p.Gln6Leu)
2	g.202377492G>A	CA430892941	BMPR2	c.18G>A (p.Gln6=)	gnomAD v4
2	g.202377492G>C	CA350396573	BMPR2	c.18G>C (p.Gln6His)
2	g.202377492G>T	CA350396574	BMPR2	c.18G>T (p.Gln6His)
2	g.202377492_202377493delinsGC	CA1321474671	BMPR2	c.18_19delinsGC (p.Gln6=)
2	g.202377493del	CA915942367	BMPR2	c.19del (p.Arg7GlyfsTer?)	ClinVar dbSNP
2	g.202377493C>A	CA2060997	BMPR2	c.19C>A (p.Arg7=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377493C=	CA1321474672	BMPR2	c.19C= (p.Arg7=)
2	g.202377493C>G	CA350396577	BMPR2	c.19C>G (p.Arg7Gly)	gnomAD v4
2	g.202377493C>T	CA350396579	BMPR2	c.19C>T (p.Arg7Trp)	gnomAD v4
2	g.202377493_202377494delinsCG	CA1321474673	BMPR2	c.19_20delinsCG (p.Arg7=)
2	g.202377494G>A	CA350396585	BMPR2	c.20G>A (p.Arg7Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.202377494G>C	CA350396583	BMPR2	c.20G>C (p.Arg7Pro)
2	g.202377494G=	CA1321474675	BMPR2	c.20G= (p.Arg7=)
2	g.202377494G>T	CA350396581	BMPR2	c.20G>T (p.Arg7Leu)
2	g.202377495del	CA645293857	BMPR2	c.21del (p.Trp9GlyfsTer?)	ClinVar dbSNP
2	g.202377494_202377503delinsGGCCCTGGCG	CA1321474674	BMPR2	c.20_29delinsGGCCCTGGCG (p.Arg7=)
2	g.202377495G>A	CA64522360	BMPR2	c.21G>A (p.Arg7=)	dbSNP gnomAD v4
2	g.202377495G>C	CA430892954	BMPR2	c.21G>C (p.Arg7=)
2	g.202377495G=	CA1321474676	BMPR2	c.21G= (p.Arg7=)
2	g.202377495G>T	CA430892956	BMPR2	c.21G>T (p.Arg7=)
2	g.202377495_202377503delinsA	CA645293858	BMPR2	c.21_29delinsA (p.Pro8GlyfsTer27)	ClinVar dbSNP
2	g.202377496C>A	CA350396586	BMPR2	c.22C>A (p.Pro8Thr)	gnomAD v4
2	g.202377496C>G	CA350396587	BMPR2	c.22C>G (p.Pro8Ala)
2	g.202377496C>T	CA350396589	BMPR2	c.22C>T (p.Pro8Ser)	gnomAD v4
2	g.202377497C>A	CA350396591	BMPR2	c.23C>A (p.Pro8His)
2	g.202377497C>G	CA350396593	BMPR2	c.23C>G (p.Pro8Arg)
2	g.202377497C>T	CA350396594	BMPR2	c.23C>T (p.Pro8Leu)	gnomAD v4 COSMIC
2	g.202377497_202377513delinsCCTGGCGGGTGCCCTGG	CA1321474677	BMPR2	c.23_39delinsCCTGGCGGGTGCCCTGG (p.Pro8=)
2	g.202377498C>A	CA430892967	BMPR2	c.24C>A (p.Pro8=)
2	g.202377498C=	CA1321474678	BMPR2	c.24C= (p.Pro8=)
2	g.202377498C>G	CA430892968	BMPR2	c.24C>G (p.Pro8=)
2	g.202377498C>T	CA430892970	BMPR2	c.24C>T (p.Pro8=)	dbSNP
2	g.202377500_202377515del	CA915942368	BMPR2	c.26_41del (p.Trp9TyrfsTer?)	ClinVar dbSNP
2	g.202377499T>A	CA350396597	BMPR2	c.25T>A (p.Trp9Arg)
2	g.202377499T>C	CA350396600	BMPR2	c.25T>C (p.Trp9Arg)
2	g.202377499T>G	CA350396599	BMPR2	c.25T>G (p.Trp9Gly)
2	g.202377500G>A	CA350396602	BMPR2	c.26G>A (p.Trp9Ter)
2	g.202377500G>C	CA350396604	BMPR2	c.26G>C (p.Trp9Ser)
2	g.202377500G>T	CA350396606	BMPR2	c.26G>T (p.Trp9Leu)
2	g.202377501del	CA2586970990	BMPR2	c.27del (p.Trp9CysfsTer?)
2	g.202377501G>A	CA350396608	BMPR2	c.27G>A (p.Trp9Ter)	ClinVar dbSNP COSMIC
2	g.202377501G>C	CA350396610	BMPR2	c.27G>C (p.Trp9Cys)
2	g.202377501G=	CA1321474679	BMPR2	c.27G= (p.Trp9=)
2	g.202377501G>T	CA350396611	BMPR2	c.27G>T (p.Trp9Cys)	dbSNP
2	g.202377502C>A	CA430892989	BMPR2	c.28C>A (p.Arg10=)
2	g.202377502C=	CA1321474680	BMPR2	c.28C= (p.Arg10=)
2	g.202377502C>G	CA350396612	BMPR2	c.28C>G (p.Arg10Gly)
2	g.202377502C>T	CA350396613	BMPR2	c.28C>T (p.Arg10Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.202377503G>A	CA2060998	BMPR2	c.29G>A (p.Arg10Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377503G>C	CA350396616	BMPR2	c.29G>C (p.Arg10Pro)
2	g.202377503G=	CA1321474681	BMPR2	c.29G= (p.Arg10=)
2	g.202377503G>T	CA350396618	BMPR2	c.29G>T (p.Arg10Leu)
2	g.202377504G>A	CA430892995	BMPR2	c.30G>A (p.Arg10=)
2	g.202377504G>C	CA430892996	BMPR2	c.30G>C (p.Arg10=)
2	g.202377504G>T	CA430892998	BMPR2	c.30G>T (p.Arg10=)
2	g.202377505G>A	CA350396621	BMPR2	c.31G>A (p.Val11Met)
2	g.202377505G>C	CA350396623	BMPR2	c.31G>C (p.Val11Leu)	gnomAD v4
2	g.202377505G=	CA1321474682	BMPR2	c.31G= (p.Val11=)
2	g.202377505G>T	CA2060999	BMPR2	c.31G>T (p.Val11Leu)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.202377506T>A	CA350396626	BMPR2	c.32T>A (p.Val11Glu)
2	g.202377506T>C	CA350396625	BMPR2	c.32T>C (p.Val11Ala)
2	g.202377506T>G	CA350396628	BMPR2	c.32T>G (p.Val11Gly)	dbSNP
2	g.202377506T=	CA1321474683	BMPR2	c.32T= (p.Val11=)
2	g.202377507G>A	CA430893007	BMPR2	c.33G>A (p.Val11=)	ClinVar dbSNP gnomAD v4
2	g.202377507G>C	CA430893009	BMPR2	c.33G>C (p.Val11=)
2	g.202377507G=	CA1321474684	BMPR2	c.33G= (p.Val11=)
2	g.202377507G>T	CA64522361	BMPR2	c.33G>T (p.Val11=)	dbSNP
2	g.202377508C>A	CA350396631	BMPR2	c.34C>A (p.Pro12Thr)
2	g.202377508C>G	CA350396634	BMPR2	c.34C>G (p.Pro12Ala)
2	g.202377508C>T	CA350396632	BMPR2	c.34C>T (p.Pro12Ser)
2	g.202377510del	CA2586970991	BMPR2	c.36del (p.Trp13GlyfsTer?)
2	g.202377509C>A	CA350396636	BMPR2	c.35C>A (p.Pro12His)
2	g.202377509C=	CA1321474685	BMPR2	c.35C= (p.Pro12=)
2	g.202377509C>G	CA350396639	BMPR2	c.35C>G (p.Pro12Arg)
2	g.202377509C>T	CA2061000	BMPR2	c.35C>T (p.Pro12Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377510C>A	CA430893029	BMPR2	c.36C>A (p.Pro12=)
2	g.202377510C>G	CA430893025	BMPR2	c.36C>G (p.Pro12=)
2	g.202377510C>T	CA430893027	BMPR2	c.36C>T (p.Pro12=)	gnomAD v4
2	g.202377511T>A	CA350396641	BMPR2	c.37T>A (p.Trp13Arg)
2	g.202377511T>C	CA350396643	BMPR2	c.37T>C (p.Trp13Arg)
2	g.202377511T>G	CA350396645	BMPR2	c.37T>G (p.Trp13Gly)	dbSNP
2	g.202377511T=	CA1321474686	BMPR2	c.37T= (p.Trp13=)
2	g.202377512G>A	CA350396647	BMPR2	c.38G>A (p.Trp13Ter)	ClinVar dbSNP
2	g.202377512G>C	CA350396649	BMPR2	c.38G>C (p.Trp13Ser)	gnomAD v4
2	g.202377512G=	CA1321474687	BMPR2	c.38G= (p.Trp13=)
2	g.202377512G>T	CA350396650	BMPR2	c.38G>T (p.Trp13Leu)
2	g.202377513G>A	CA350396653	BMPR2	c.39G>A (p.Trp13Ter)	ClinVar dbSNP
2	g.202377513G>C	CA350396654	BMPR2	c.39G>C (p.Trp13Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.202377513G=	CA1321474688	BMPR2	c.39G= (p.Trp13=)
2	g.202377513G>T	CA350396656	BMPR2	c.39G>T (p.Trp13Cys)
2	g.202377514C>A	CA350396658	BMPR2	c.40C>A (p.Leu14Ile)
2	g.202377514C=	CA1321474689	BMPR2	c.40C= (p.Leu14=)
2	g.202377514C>G	CA2061001	BMPR2	c.40C>G (p.Leu14Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377514C>T	CA430893050	BMPR2	c.40C>T (p.Leu14=)	dbSNP
2	g.202377515T>A	CA350396665	BMPR2	c.41T>A (p.Leu14Gln)
2	g.202377515T>C	CA350396661	BMPR2	c.41T>C (p.Leu14Pro)
2	g.202377515T>G	CA350396663	BMPR2	c.41T>G (p.Leu14Arg)
2	g.202377516A>C	CA430893065	BMPR2	c.42A>C (p.Leu14=)	gnomAD v4
2	g.202377516A>G	CA430893067	BMPR2	c.42A>G (p.Leu14=)
2	g.202377516A>T	CA430893068	BMPR2	c.42A>T (p.Leu14=)
2	g.202377516_202377517delinsAC	CA1321474690	BMPR2	c.42_43delinsAC (p.Leu14=)
2	g.202377517C>A	CA350396668	BMPR2	c.43C>A (p.Pro15Thr)
2	g.202377517C>G	CA350396669	BMPR2	c.43C>G (p.Pro15Ala)
2	g.202377517C>T	CA350396672	BMPR2	c.43C>T (p.Pro15Ser)
2	g.202377518del	CA149750	BMPR2	c.44del (p.Pro15HisfsTer?)	ClinVar dbSNP
2	g.202377518C>A	CA350396674	BMPR2	c.44C>A (p.Pro15Gln)
2	g.202377518C=	CA1321474691	BMPR2	c.44C= (p.Pro15=)
2	g.202377518C>G	CA350396675	BMPR2	c.44C>G (p.Pro15Arg)
2	g.202377518C>T	CA350396677	BMPR2	c.44C>T (p.Pro15Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.202377519del	CA2586970992	BMPR2	c.45del (p.Trp16GlyfsTer?)
2	g.202377519A=	CA1321474692	BMPR2	c.45A= (p.Pro15=)
2	g.202377519A>C	CA430893080	BMPR2	c.45A>C (p.Pro15=)
2	g.202377519A>G	CA430893082	BMPR2	c.45A>G (p.Pro15=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377519A>T	CA430893084	BMPR2	c.45A>T (p.Pro15=)
2	g.202377520T>A	CA350396680	BMPR2	c.46T>A (p.Trp16Arg)
2	g.202377520T>C	CA350396682	BMPR2	c.46T>C (p.Trp16Arg)	COSMIC
2	g.202377520T>G	CA350396683	BMPR2	c.46T>G (p.Trp16Gly)
2	g.202377521G>A	CA350396688	BMPR2	c.47G>A (p.Trp16Ter)	ClinVar dbSNP
2	g.202377521G>C	CA350396689	BMPR2	c.47G>C (p.Trp16Ser)
2	g.202377521G=	CA1321474693	BMPR2	c.47G= (p.Trp16=)
2	g.202377521G>T	CA350396686	BMPR2	c.47G>T (p.Trp16Leu)
2	g.202377522G>A	CA350396691	BMPR2	c.48G>A (p.Trp16Ter)	ClinVar dbSNP COSMIC
2	g.202377522G>C	CA350396693	BMPR2	c.48G>C (p.Trp16Cys)
2	g.202377522G=	CA1321474694	BMPR2	c.48G= (p.Trp16=)
2	g.202377522G>T	CA350396694	BMPR2	c.48G>T (p.Trp16Cys)
2	g.202377523del	CA2586970993	BMPR2	c.49del (p.Thr17ProfsTer30)
2	g.202377523A=	CA1321474695	BMPR2	c.49A= (p.Thr17=)
2	g.202377523A>C	CA350396696	BMPR2	c.49A>C (p.Thr17Pro)
2	g.202377523A>G	CA2061002	BMPR2	c.49A>G (p.Thr17Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377523A>T	CA2061003	BMPR2	c.49A>T (p.Thr17Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377524C>A	CA350396700	BMPR2	c.50C>A (p.Thr17Asn)	gnomAD v4
2	g.202377524C>G	CA350396702	BMPR2	c.50C>G (p.Thr17Ser)
2	g.202377524C>T	CA350396704	BMPR2	c.50C>T (p.Thr17Ile)
2	g.202377525C>A	CA430893106	BMPR2	c.51C>A (p.Thr17=)
2	g.202377525C>G	CA430893108	BMPR2	c.51C>G (p.Thr17=)
2	g.202377525C>T	CA430893110	BMPR2	c.51C>T (p.Thr17=)
2	g.202377527_202377538del	CA2586970994	BMPR2	c.53_64del (p.Ile18_Val21del)
2	g.202377526A>C	CA350396706	BMPR2	c.52A>C (p.Ile18Leu)
2	g.202377526A>G	CA350396708	BMPR2	c.52A>G (p.Ile18Val)	gnomAD v4
2	g.202377526A>T	CA350396710	BMPR2	c.52A>T (p.Ile18Phe)
2	g.202377527T>A	CA350396714	BMPR2	c.53T>A (p.Ile18Asn)
2	g.202377527T>C	CA350396716	BMPR2	c.53T>C (p.Ile18Thr)	dbSNP
2	g.202377527T>G	CA350396712	BMPR2	c.53T>G (p.Ile18Ser)
2	g.202377527T=	CA1321474696	BMPR2	c.53T= (p.Ile18=)
2	g.202377528C>A	CA430893120	BMPR2	c.54C>A (p.Ile18=)
2	g.202377528C>G	CA350396718	BMPR2	c.54C>G (p.Ile18Met)
2	g.202377528C>T	CA430893118	BMPR2	c.54C>T (p.Ile18=)	gnomAD v4
2	g.202377529C>A	CA350396721	BMPR2	c.55C>A (p.Leu19Met)
2	g.202377529C>G	CA350396723	BMPR2	c.55C>G (p.Leu19Val)
2	g.202377529C>T	CA430893125	BMPR2	c.55C>T (p.Leu19=)	gnomAD v4
2	g.202377530T>A	CA350396725	BMPR2	c.56T>A (p.Leu19Gln)
2	g.202377530T>C	CA350396727	BMPR2	c.56T>C (p.Leu19Pro)
2	g.202377530T>G	CA350396729	BMPR2	c.56T>G (p.Leu19Arg)
2	g.202377531G>A	CA2061004	BMPR2	c.57G>A (p.Leu19=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377531G>C	CA430893133	BMPR2	c.57G>C (p.Leu19=)
2	g.202377531G=	CA1321474697	BMPR2	c.57G= (p.Leu19=)
2	g.202377531G>T	CA430893131	BMPR2	c.57G>T (p.Leu19=)
2	g.202377532C>A	CA350396732	BMPR2	c.58C>A (p.Leu20Met)	dbSNP gnomAD v3 gnomAD v4
2	g.202377532C=	CA1321474698	BMPR2	c.58C= (p.Leu20=)
2	g.202377532C>G	CA350396734	BMPR2	c.58C>G (p.Leu20Val)
2	g.202377532C>T	CA430893138	BMPR2	c.58C>T (p.Leu20=)
2	g.202377533T>A	CA350396736	BMPR2	c.59T>A (p.Leu20Gln)
2	g.202377533T>C	CA350396738	BMPR2	c.59T>C (p.Leu20Pro)
2	g.202377533T>G	CA350396740	BMPR2	c.59T>G (p.Leu20Arg)
2	g.202377534G>A	CA430893146	BMPR2	c.60G>A (p.Leu20=)	dbSNP gnomAD v4
2	g.202377534G>C	CA2061005	BMPR2	c.60G>C (p.Leu20=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377534G=	CA1321474699	BMPR2	c.60G= (p.Leu20=)
2	g.202377534G>T	CA430893145	BMPR2	c.60G>T (p.Leu20=)
2	g.202377535G>A	CA350396746	BMPR2	c.61G>A (p.Val21Ile)
2	g.202377535G>C	CA350396744	BMPR2	c.61G>C (p.Val21Leu)	gnomAD v4
2	g.202377535G>T	CA350396742	BMPR2	c.61G>T (p.Val21Phe)
2	g.202377536T>A	CA350396748	BMPR2	c.62T>A (p.Val21Asp)
2	g.202377536T>C	CA350396751	BMPR2	c.62T>C (p.Val21Ala)
2	g.202377536T>G	CA350396749	BMPR2	c.62T>G (p.Val21Gly)
2	g.202377537C>A	CA430893156	BMPR2	c.63C>A (p.Val21=)
2	g.202377537C=	CA1321474700	BMPR2	c.63C= (p.Val21=)
2	g.202377537C>G	CA430893158	BMPR2	c.63C>G (p.Val21=)
2	g.202377537C>T	CA2061006	BMPR2	c.63C>T (p.Val21=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377538A>C	CA350396755	BMPR2	c.64A>C (p.Ser22Arg)
2	g.202377538A>G	CA350396757	BMPR2	c.64A>G (p.Ser22Gly)	gnomAD v4
2	g.202377538A>T	CA350396759	BMPR2	c.64A>T (p.Ser22Cys)
2	g.202377539G>A	CA350396761	BMPR2	c.65G>A (p.Ser22Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.202377539G>C	CA350396763	BMPR2	c.65G>C (p.Ser22Thr)	gnomAD v4
2	g.202377539G=	CA1321474701	BMPR2	c.65G= (p.Ser22=)
2	g.202377539G>T	CA350396765	BMPR2	c.65G>T (p.Ser22Ile)
2	g.202377540C>A	CA350396767	BMPR2	c.66C>A (p.Ser22Arg)
2	g.202377540C=	CA1321474702	BMPR2	c.66C= (p.Ser22=)
2	g.202377540C>G	CA350396769	BMPR2	c.66C>G (p.Ser22Arg)
2	g.202377540C>T	CA64522362	BMPR2	c.66C>T (p.Ser22=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.202377541A=	CA1321474703	BMPR2	c.67A= (p.Thr23=)
2	g.202377541A>C	CA350396771	BMPR2	c.67A>C (p.Thr23Pro)	dbSNP
2	g.202377541A>G	CA2061007	BMPR2	c.67A>G (p.Thr23Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377541A>T	CA350396774	BMPR2	c.67A>T (p.Thr23Ser)
2	g.202377542C>A	CA350396779	BMPR2	c.68C>A (p.Thr23Asn)
2	g.202377542C=	CA1321474704	BMPR2	c.68C= (p.Thr23=)
2	g.202377542C>G	CA350396776	BMPR2	c.68C>G (p.Thr23Ser)	dbSNP gnomAD v4
2	g.202377542C>T	CA2061008	BMPR2	c.68C>T (p.Thr23Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377545_202377550del	CA2586970995	BMPR2	c.71_76del (p.Ala25_Ala26del)
2	g.202377543T>A	CA430893171	BMPR2	c.69T>A (p.Thr23=)
2	g.202377543T>C	CA430893173	BMPR2	c.69T>C (p.Thr23=)
2	g.202377543T>G	CA430893175	BMPR2	c.69T>G (p.Thr23=)
2	g.202377544G>A	CA2061009	BMPR2	c.70G>A (p.Ala24Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377544G>C	CA350396781	BMPR2	c.70G>C (p.Ala24Pro)
2	g.202377544G=	CA1321474705	BMPR2	c.70G= (p.Ala24=)
2	g.202377544G>T	CA350396783	BMPR2	c.70G>T (p.Ala24Ser)
2	g.202377545C>A	CA2061011	BMPR2	c.71C>A (p.Ala24Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.202377545C=	CA1321474706	BMPR2	c.71C= (p.Ala24=)
2	g.202377545C>G	CA350396786	BMPR2	c.71C>G (p.Ala24Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377545C>T	CA2061010	BMPR2	c.71C>T (p.Ala24Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377546G>A	CA430893184	BMPR2	c.72G>A (p.Ala24=)
2	g.202377546G>C	CA430893186	BMPR2	c.72G>C (p.Ala24=)
2	g.202377546G>T	CA430893187	BMPR2	c.72G>T (p.Ala24=)	COSMIC
2	g.202377547G>A	CA350396790	BMPR2	c.73G>A (p.Ala25Thr)
2	g.202377547G>C	CA350396791	BMPR2	c.73G>C (p.Ala25Pro)
2	g.202377547G>T	CA350396793	BMPR2	c.73G>T (p.Ala25Ser)
2	g.202377548C>A	CA350396795	BMPR2	c.74C>A (p.Ala25Asp)
2	g.202377548C>G	CA350396797	BMPR2	c.74C>G (p.Ala25Gly)	gnomAD v4
2	g.202377548C>T	CA350396798	BMPR2	c.74C>T (p.Ala25Val)	gnomAD v4
2	g.202377549T>A	CA2061012	BMPR2	c.75T>A (p.Ala25=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377549T>C	CA430893197	BMPR2	c.75T>C (p.Ala25=)
2	g.202377549T>G	CA430893194	BMPR2	c.75T>G (p.Ala25=)
2	g.202377549T=	CA1321474707	BMPR2	c.75T= (p.Ala25=)
2	g.202377550G>A	CA350396806	BMPR2	c.76G>A (p.Ala26Thr)
2	g.202377550G>C	CA350396802	BMPR2	c.76G>C (p.Ala26Pro)
2	g.202377550G>T	CA350396803	BMPR2	c.76G>T (p.Ala26Ser)
2	g.202377551G>A	CA350396807	BMPR2	c.76+1G>A (n.76+1G>A)	ClinVar dbSNP
2	g.202377551G>C	CA350396809	BMPR2	c.76+1G>C (n.76+1G>C)
2	g.202377551G=	CA1321474708	BMPR2	c.76+1G= (n.76+1G=)
2	g.202377551G>T	CA350396811	BMPR2	c.76+1G>T (n.76+1G>T)	ClinVar dbSNP
2	g.202377551_202377552insGAGGC	CA2061013	BMPR2	c.76+1_76+2insGAGGC (n.76+1_76+2insGAGGC)	dbSNP ExAC
2	g.202377552T>A	CA350396815	BMPR2	c.76+2T>A (n.76+2T>A)	ClinVar
2	g.202377552T>C	CA350396817	BMPR2	c.76+2T>C (n.76+2T>C)	ClinVar dbSNP
2	g.202377552T>G	CA350396819	BMPR2	c.76+2T>G (n.76+2T>G)	ClinVar dbSNP
2	g.202377552T=	CA1321474709	BMPR2	c.76+2T= (n.76+2T=)
2	g.202377552_202377553insTTCCTCCGA	CA2061014	BMPR2	c.76+2_76+3insTTCCTCCGA (n.76+2_76+3insTTCCTCCGA)	dbSNP ExAC
2	g.202377553G>A	CA539001106	BMPR2	c.76+3G>A (n.76+3G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377553G=	CA1321474710	BMPR2	c.76+3G= (n.76+3G=)

Number of alleles fetched