Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.117439630T>A	CA684138738	NOS1	n.470+12071A>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439630T=	CA2066046186	NOS1	n.470+12071A=
12	g.117439632G>A	CA952313411	NOS1	n.470+12069C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439632G=	CA2066046188	NOS1	n.470+12069C=
12	g.117439633G>A	CA684138739	NOS1	n.470+12068C>T	dbSNP
12	g.117439633G=	CA2066046191	NOS1	n.470+12068C=
12	g.117439635T>G	CA2066046196	NOS1	n.470+12066A>C	dbSNP
12	g.117439635T=	CA2066046193	NOS1	n.470+12066A=
12	g.117439635_117439639delinsTTTAA	CA2066046195	NOS1	n.470+12062_470+12066delinsTTAAA
12	g.117439638_117439641del	CA2066046198	NOS1	n.470+12062_470+12065del	dbSNP
12	g.117439642G>A	CA684138741	NOS1	n.470+12059C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439642G=	CA2066046202	NOS1	n.470+12059C=
12	g.117439643A=	CA2066046207	NOS1	n.470+12058T=
12	g.117439643A>G	CA245041530	NOS1	n.470+12058T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439645A=	CA2066046208	NOS1	n.470+12056T=
12	g.117439645A>G	CA952313421	NOS1	n.470+12056T>C	dbSNP gnomAD v3 gnomAD v4
12	g.117439647C=	CA2066046210	NOS1	n.470+12054G=
12	g.117439647C>G	CA245041531	NOS1	n.470+12054G>C	dbSNP
12	g.117439647C>T	CA952313425	NOS1	n.470+12054G>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439651T>A	CA607800318	NOS1	n.470+12050A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439651T>G	CA245041532	NOS1	n.470+12050A>C	dbSNP
12	g.117439651T=	CA2066046213	NOS1	n.470+12050A=
12	g.117439653G>A	CA952313429	NOS1	n.470+12048C>T	gnomAD v3 gnomAD v4
12	g.117439654C=	CA2066046217	NOS1	n.470+12047G=
12	g.117439654C>T	CA245041533	NOS1	n.470+12047G>A	dbSNP
12	g.117439655C>A	CA2066046220	NOS1	n.470+12046G>T	dbSNP
12	g.117439655C=	CA2066046219	NOS1	n.470+12046G=
12	g.117439656C>T	CA2797629769	NOS1	n.470+12045G>A
12	g.117439657C>A	CA2066046222	NOS1	n.470+12044G>T	dbSNP
12	g.117439657C=	CA2066046221	NOS1	n.470+12044G=
12	g.117439657C>G	CA2066046224	NOS1	n.470+12044G>C	dbSNP
12	g.117439659C=	CA2066046228	NOS1	n.470+12042G=
12	g.117439659C>T	CA2066046225	NOS1	n.470+12042G>A	dbSNP
12	g.117439660C=	CA2066046229	NOS1	n.470+12041G=
12	g.117439660C>T	CA684138751	NOS1	n.470+12041G>A	dbSNP
12	g.117439661C>G	CA2727362860	NOS1	n.470+12040G>C	dbSNP
12	g.117439662C>G	CA2797629770	NOS1	n.470+12039G>C
12	g.117439665G>A	CA2066046233	NOS1	n.470+12036C>T	dbSNP
12	g.117439665G=	CA2066046231	NOS1	n.470+12036C=
12	g.117439667G>A	CA245041534	NOS1	n.470+12034C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439667G=	CA2066046234	NOS1	n.470+12034C=
12	g.117439667G>T	CA2066046236	NOS1	n.470+12034C>A	dbSNP
12	g.117439671G>A	CA245041535	NOS1	n.470+12030C>T	dbSNP gnomAD v3
12	g.117439671G=	CA2066046241	NOS1	n.470+12030C=
12	g.117439671G>T	CA245041536	NOS1	n.470+12030C>A	dbSNP
12	g.117439672C=	CA2066046247	NOS1	n.470+12029G=
12	g.117439681_117439701dup	CA2066046250	NOS1	n.470+12008_470+12028dup	dbSNP
12	g.117439675G>A	CA245041537	NOS1	n.470+12026C>T	dbSNP
12	g.117439675G=	CA2066046257	NOS1	n.470+12026C=
12	g.117439676G>A	CA245041538	NOS1	n.470+12025C>T	dbSNP
12	g.117439676G=	CA2066046259	NOS1	n.470+12025C=
12	g.117439677A=	CA2066046267	NOS1	n.470+12024T=
12	g.117439677A>C	CA684138754	NOS1	n.470+12024T>G	dbSNP gnomAD v3 gnomAD v4
12	g.117439680C>A	CA2580602343	NOS1	n.470+12021G>T
12	g.117439680C=	CA2066046273	NOS1	n.470+12021G=
12	g.117439680C>G	CA2580602342	NOS1	n.470+12021G>C
12	g.117439680C>T	CA210712	NOS1	n.470+12021G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439681G>A	CA245041539	NOS1	n.470+12020C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439681G=	CA2066046280	NOS1	n.470+12020C=
12	g.117439681G>T	CA2066046285	NOS1	n.470+12020C>A	dbSNP
12	g.117439682G>A	CA245041540	NOS1	n.470+12019C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439682G=	CA2066046287	NOS1	n.470+12019C=
12	g.117439682G>T	CA607800319	NOS1	n.470+12019C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439685C>A	CA245041541	NOS1	n.470+12016G>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439685C=	CA2066046296	NOS1	n.470+12016G=
12	g.117439685C>T	CA684138770	NOS1	n.470+12016G>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439688C=	CA2066046300	NOS1	n.470+12013G=
12	g.117439688C>T	CA684138771	NOS1	n.470+12013G>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439688_117439689insGG	CA2541801592	NOS1	n.470+12012_470+12013insCC
12	g.117439689T>C	CA607800320	NOS1	n.470+12012A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439689T>G	CA2529034980	NOS1	n.470+12012A>C
12	g.117439689T=	CA2066046301	NOS1	n.470+12012A=
12	g.117439690G>A	CA245041542	NOS1	n.470+12011C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439690G=	CA2066046304	NOS1	n.470+12011C=
12	g.117439692G>A	CA2066046306	NOS1	n.470+12009C>T	dbSNP
12	g.117439692G=	CA2066046305	NOS1	n.470+12009C=
12	g.117439693T>C	CA2526299431	NOS1	n.470+12008A>G
12	g.117439693T>G	CA245041543	NOS1	n.470+12008A>C	dbSNP
12	g.117439693T=	CA2066046308	NOS1	n.470+12008A=
12	g.117439695G>A	CA2066046316	NOS1	n.470+12006C>T	dbSNP
12	g.117439695G=	CA2066046313	NOS1	n.470+12006C=
12	g.117439697G>A	CA952313446	NOS1	n.470+12004C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439697G=	CA2066046317	NOS1	n.470+12004C=
12	g.117439700G>A	CA2066046320	NOS1	n.470+12001C>T	dbSNP
12	g.117439700G=	CA2066046324	NOS1	n.470+12001C=
12	g.117439702C=	CA2066046327	NOS1	n.470+11999G=
12	g.117439702C>T	CA2066046328	NOS1	n.470+11999G>A	dbSNP
12	g.117439705G>A	CA2539589045	NOS1	n.470+11996C>T
12	g.117439705G=	CA2066046331	NOS1	n.470+11996C=
12	g.117439705G>T	CA952313449	NOS1	n.470+11996C>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439705_117439706delinsGC	CA2066046330	NOS1	n.470+11995_470+11996delinsGC
12	g.117439706C>A	CA2066046337	NOS1	n.470+11995G>T	dbSNP
12	g.117439706C=	CA2066046335	NOS1	n.470+11995G=
12	g.117439706C>G	CA607800321	NOS1	n.470+11995G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439707del	CA245041544	NOS1	n.470+11995del	dbSNP
12	g.117439708T>A	CA655345831	NOS1	n.470+11993A>T	COSMIC
12	g.117439708T>C	CA2529944065	NOS1	n.470+11993A>G
12	g.117439711G>C	CA2066046347	NOS1	n.470+11990C>G	dbSNP
12	g.117439711G=	CA2066046341	NOS1	n.470+11990C=
12	g.117439713_117439714delinsCA	CA2066046348	NOS1	n.470+11987_470+11988delinsTG
12	g.117439714del	CA684138796	NOS1	n.470+11987del	dbSNP gnomAD v3 gnomAD v4
12	g.117439714A=	CA2066046350	NOS1	n.470+11987T=
12	g.117439714A>G	CA607800322	NOS1	n.470+11987T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439714_117439715delinsAG	CA2066046349	NOS1	n.470+11986_470+11987delinsCT
12	g.117439715G>A	CA245041546	NOS1	n.470+11986C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439715G=	CA2066046353	NOS1	n.470+11986C=
12	g.117439715G>T	CA684138798	NOS1	n.470+11986C>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439720del	CA245041545	NOS1	n.470+11986del	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439718G>A	CA245041547	NOS1	n.470+11983C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439718G=	CA2066046357	NOS1	n.470+11983C=
12	g.117439719G>T	CA2543301676	NOS1	n.470+11982C>A
12	g.117439720G=	CA2066046359	NOS1	n.470+11981C=
12	g.117439720G>T	CA684138808	NOS1	n.470+11981C>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439721T>C	CA952313459	NOS1	n.470+11980A>G	dbSNP gnomAD v3 gnomAD v4
12	g.117439721T>G	CA2066046366	NOS1	n.470+11980A>C	dbSNP
12	g.117439721T=	CA2066046365	NOS1	n.470+11980A=
12	g.117439724C>A	CA2066046370	NOS1	n.470+11977G>T	dbSNP
12	g.117439724C=	CA2066046368	NOS1	n.470+11977G=
12	g.117439724C>T	CA2066046371	NOS1	n.470+11977G>A	dbSNP
12	g.117439726C=	CA2066046374	NOS1	n.470+11975G=
12	g.117439726C>T	CA607800323	NOS1	n.470+11975G>A	dbSNP gnomAD v2
12	g.117439728C=	CA2066046376	NOS1	n.470+11973G=
12	g.117439728C>T	CA245041548	NOS1	n.470+11973G>A	dbSNP
12	g.117439730G>C	CA952313460	NOS1	n.470+11971C>G	dbSNP gnomAD v3 gnomAD v4
12	g.117439730G=	CA2066046382	NOS1	n.470+11971C=

Number of alleles fetched