Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=
12	g.117439731A=	CA2066046387	NOS1	n.470+11970T=
12	g.117439731A>G	CA2066046389	NOS1	n.470+11970T>C	dbSNP
12	g.117439732C=	CA2066046392	NOS1	n.470+11969G=
12	g.117439732C>G	CA245041549	NOS1	n.470+11969G>C	dbSNP gnomAD v3 gnomAD v4
12	g.117439735G>A	CA2066046395	NOS1	n.470+11966C>T	dbSNP
12	g.117439735G=	CA2066046393	NOS1	n.470+11966C=
12	g.117439739A=	CA2066046397	NOS1	n.470+11962T=
12	g.117439739A>C	CA2066046396	NOS1	n.470+11962T>G	dbSNP
12	g.117439746G>C	CA245041550	NOS1	n.470+11955C>G	dbSNP
12	g.117439746G=	CA2066046401	NOS1	n.470+11955C=
12	g.117439747C=	CA2066046405	NOS1	n.470+11954G=
12	g.117439747C>T	CA2066046406	NOS1	n.470+11954G>A	dbSNP
12	g.117439752C>A	CA2552131158	NOS1	n.470+11949G>T
12	g.117439753T>C	CA2727362873	NOS1	n.470+11948A>G	dbSNP
12	g.117439759A=	CA2066046409	NOS1	n.470+11942T=
12	g.117439759A>T	CA245041551	NOS1	n.470+11942T>A	dbSNP
12	g.117439761A=	CA2066046412	NOS1	n.470+11940T=
12	g.117439761A>G	CA684138813	NOS1	n.470+11940T>C	dbSNP
12	g.117439762C=	CA2066046417	NOS1	n.470+11939G=
12	g.117439762C>G	CA684138814	NOS1	n.470+11939G>C	dbSNP
12	g.117439762_117439763delinsCA	CA2066046416	NOS1	n.470+11938_470+11939delinsTG
12	g.117439763A=	CA2066046426	NOS1	n.470+11938T=
12	g.117439763A>G	CA245041552	NOS1	n.470+11938T>C	dbSNP gnomAD v3 gnomAD v4
12	g.117439764del	CA2066046422	NOS1	n.470+11938del	dbSNP
12	g.117439765G>A	CA952313466	NOS1	n.470+11936C>T
12	g.117439765G=	CA2066046430	NOS1	n.470+11936C=
12	g.117439765_117439766insTCT	CA684138819	NOS1	n.470+11935_470+11936insAGA	dbSNP
12	g.117439767_117439768insAAGTCAGG	CA2066046440	NOS1	n.470+11935_470+11936insTGACTTCC	dbSNP
12	g.117439768C>A	CA2066046448	NOS1	n.470+11933G>T	dbSNP
12	g.117439768C=	CA2066046443	NOS1	n.470+11933G=

Number of alleles fetched