Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.117439599C>A	CA684138708	NOS1	n.470+12102G>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439599C=	CA2066046111	NOS1	n.470+12102G=
12	g.117439599C>G	CA607800316	NOS1	n.470+12102G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439601G>A	CA2797629767	NOS1	n.470+12100C>T
12	g.117439603C>A	CA2539100932	NOS1	n.470+12098G>T
12	g.117439603C=	CA2066046119	NOS1	n.470+12098G=
12	g.117439603C>T	CA607800317	NOS1	n.470+12098G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439604G>A	CA245041521	NOS1	n.470+12097C>T	dbSNP
12	g.117439604G=	CA2066046125	NOS1	n.470+12097C=
12	g.117439605C=	CA2066046127	NOS1	n.470+12096G=
12	g.117439605C>T	CA2066046128	NOS1	n.470+12096G>A	dbSNP
12	g.117439608G>A	CA2555732571	NOS1	n.470+12093C>T
12	g.117439609G=	CA2066046130	NOS1	n.470+12092C=
12	g.117439609G>T	CA245041522	NOS1	n.470+12092C>A	dbSNP
12	g.117439610C=	CA2066046132	NOS1	n.470+12091G=
12	g.117439610C>T	CA245041523	NOS1	n.470+12091G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439611G>A	CA245041524	NOS1	n.470+12090C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439611G=	CA2066046135	NOS1	n.470+12090C=
12	g.117439612T>A	CA684138727	NOS1	n.470+12089A>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439612T=	CA2066046136	NOS1	n.470+12089A=
12	g.117439613G>A	CA952313399	NOS1	n.470+12088C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439613G=	CA2066046137	NOS1	n.470+12088C=
12	g.117439614G>A	CA245041525	NOS1	n.470+12087C>T	dbSNP
12	g.117439614G=	CA2066046139	NOS1	n.470+12087C=
12	g.117439615T>G	CA2066046143	NOS1	n.470+12086A>C	dbSNP
12	g.117439615T=	CA2066046142	NOS1	n.470+12086A=
12	g.117439617C>T	CA2836168301	NOS1	n.470+12084G>A
12	g.117439618del	CA2564848635	NOS1	n.470+12083del
12	g.117439620G>A	CA684138734	NOS1	n.470+12081C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439620G=	CA2066046145	NOS1	n.470+12081C=
12	g.117439622C=	CA2066046151	NOS1	n.470+12079G=
12	g.117439622C>G	CA2066046155	NOS1	n.470+12079G>C	dbSNP
12	g.117439622C>T	CA245041526	NOS1	n.470+12079G>A	dbSNP gnomAD v3 gnomAD v4
12	g.117439623G>A	CA245041527	NOS1	n.470+12078C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.117439623G=	CA2066046162	NOS1	n.470+12078C=
12	g.117439624A>G	CA2797629768	NOS1	n.470+12077T>C
12	g.117439625G>A	CA2066046167	NOS1	n.470+12076C>T	dbSNP
12	g.117439625G>C	CA952313404	NOS1	n.470+12076C>G	dbSNP gnomAD v3 gnomAD v4
12	g.117439625G=	CA2066046169	NOS1	n.470+12076C=
12	g.117439626C=	CA2066046174	NOS1	n.470+12075G=
12	g.117439626C>T	CA245041528	NOS1	n.470+12075G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.117439627G>A	CA245041529	NOS1	n.470+12074C>T	dbSNP gnomAD v3 gnomAD v4
12	g.117439627G=	CA2066046178	NOS1	n.470+12074C=
12	g.117439628A>G	CA2538545318	NOS1	n.470+12073T>C
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=

Number of alleles fetched