Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.151662029_151662040delinsAAGTGTGATGCC	CA1298286135	NEB	c.5970+95_5970+106delinsGGCATCACACTT (n.5970+95_5970+106delinsGGCATCACACTT)
2	g.151662030_151662040del	CA1298286136	NEB	c.5970+95_5970+105del (n.5970+95_5970+105del)	dbSNP gnomAD v4
2	g.151662037T>C	CA758904414	NEB	c.5970+98A>G (n.5970+98A>G)	dbSNP gnomAD v4
2	g.151662037T>G	CA758904418	NEB	c.5970+98A>C (n.5970+98A>C)	dbSNP
2	g.151662037T=	CA1298286140	NEB	c.5970+98A= (n.5970+98A=)
2	g.151662038G>T	CA2577122272	NEB	c.5970+97C>A (n.5970+97C>A)	gnomAD v4
2	g.151662039C>A	CA2661470990	NEB	c.5970+96G>T (n.5970+96G>T)	gnomAD v4
2	g.151662039C>T	CA2661470989	NEB	c.5970+96G>A (n.5970+96G>A)	gnomAD v4
2	g.151662040C>A	CA758904422	NEB	c.5970+95G>T (n.5970+95G>T)	dbSNP gnomAD v4
2	g.151662040C=	CA1298286141	NEB	c.5970+95G= (n.5970+95G=)
2	g.151662040C>T	CA758904421	NEB	c.5970+95G>A (n.5970+95G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.151662041C>A	CA2661470991	NEB	c.5970+94G>T (n.5970+94G>T)	gnomAD v4
2	g.151662041C>G	CA2661470992	NEB	c.5970+94G>C (n.5970+94G>C)	gnomAD v4
2	g.151662042T>A	CA2661470993	NEB	c.5970+93A>T (n.5970+93A>T)	gnomAD v4
2	g.151662043A>G	CA2661470994	NEB	c.5970+92T>C (n.5970+92T>C)	gnomAD v4
2	g.151662043A>T	CA2577122273	NEB	c.5970+92T>A (n.5970+92T>A)	gnomAD v4
2	g.151662044T>C	CA57642549	NEB	c.5970+91A>G (n.5970+91A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662044T=	CA1298286142	NEB	c.5970+91A= (n.5970+91A=)
2	g.151662044dup	CA2752687387	NEB	c.5970+91dup (n.5970+91dup)
2	g.151662046A>T	CA2661470995	NEB	c.5970+89T>A (n.5970+89T>A)	gnomAD v4
2	g.151662047C>T	CA2661470996	NEB	c.5970+88G>A (n.5970+88G>A)	gnomAD v4
2	g.151662048T>C	CA758904424	NEB	c.5970+87A>G (n.5970+87A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.151662048T=	CA1298286143	NEB	c.5970+87A= (n.5970+87A=)
2	g.151662049G>T	CA2661470997	NEB	c.5970+86C>A (n.5970+86C>A)	gnomAD v4
2	g.151662050T>C	CA2661470998	NEB	c.5970+85A>G (n.5970+85A>G)	gnomAD v4
2	g.151662050T>G	CA1037870913	NEB	c.5970+85A>C (n.5970+85A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.151662050T=	CA1298286144	NEB	c.5970+85A= (n.5970+85A=)
2	g.151662051A>G	CA2661470999	NEB	c.5970+84T>C (n.5970+84T>C)	gnomAD v4
2	g.151662053del	CA2661471000	NEB	c.5970+83del (n.5970+83del)	gnomAD v4
2	g.151662053T>C	CA647845921	NEB	c.5970+82A>G (n.5970+82A>G)	gnomAD v4 COSMIC
2	g.151662054A>T	CA2577122274	NEB	c.5970+81T>A (n.5970+81T>A)	gnomAD v4
2	g.151662055G>T	CA2661471001	NEB	c.5970+80C>A (n.5970+80C>A)	gnomAD v4
2	g.151662056C>A	CA2661471002	NEB	c.5970+79G>T (n.5970+79G>T)	gnomAD v4
2	g.151662057A>C	CA2661471003	NEB	c.5970+78T>G (n.5970+78T>G)	gnomAD v4
2	g.151662057A>G	CA2661471004	NEB	c.5970+78T>C (n.5970+78T>C)	gnomAD v4
2	g.151662060A>G	CA2661471006	NEB	c.5970+75T>C (n.5970+75T>C)	gnomAD v4
2	g.151662065_151662088del	CA2661471005	NEB	c.5970+52_5970+75del (n.5970+52_5970+75del)	gnomAD v4
2	g.151662061C>T	CA2661471007	NEB	c.5970+74G>A (n.5970+74G>A)	gnomAD v4
2	g.151662062C>T	CA2577122275	NEB	c.5970+73G>A (n.5970+73G>A)
2	g.151662062_151662064del	CA2661471008	NEB	c.5970+71_5970+73del (n.5970+71_5970+73del)	gnomAD v4
2	g.151662063T>C	CA2700999146	NEB	c.5970+72A>G (n.5970+72A>G)	dbSNP
2	g.151662064G>A	CA2661471009	NEB	c.5970+71C>T (n.5970+71C>T)	gnomAD v4
2	g.151662064G>T	CA2661471010	NEB	c.5970+71C>A (n.5970+71C>A)	gnomAD v4
2	g.151662065T>A	CA2661471011	NEB	c.5970+70A>T (n.5970+70A>T)	gnomAD v4
2	g.151662066G>T	CA2577122277	NEB	c.5970+69C>A (n.5970+69C>A)	gnomAD v4
2	g.151662067del	CA2577122276	NEB	c.5970+69del (n.5970+69del)
2	g.151662067G>A	CA758904425	NEB	c.5970+68C>T (n.5970+68C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.151662067G=	CA1298286145	NEB	c.5970+68C= (n.5970+68C=)
2	g.151662067G>T	CA2661471012	NEB	c.5970+68C>A (n.5970+68C>A)	gnomAD v4
2	g.151662067_151662068insTATA	CA2661471013	NEB	c.5970+67_5970+68insTATA (n.5970+67_5970+68insTATA)	gnomAD v4
2	g.151662068A>G	CA2661471014	NEB	c.5970+67T>C (n.5970+67T>C)	gnomAD v4
2	g.151662069T>A	CA2661471015	NEB	c.5970+66A>T (n.5970+66A>T)	gnomAD v4
2	g.151662069T>C	CA1037870915	NEB	c.5970+66A>G (n.5970+66A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.151662069T=	CA1298286146	NEB	c.5970+66A= (n.5970+66A=)
2	g.151662072A=	CA1298286147	NEB	c.5970+63T= (n.5970+63T=)
2	g.151662072A>C	CA57642551	NEB	c.5970+63T>G (n.5970+63T>G)	dbSNP gnomAD v4
2	g.151662074T>A	CA758904426	NEB	c.5970+61A>T (n.5970+61A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.151662074T>C	CA2577122278	NEB	c.5970+61A>G (n.5970+61A>G)
2	g.151662074T=	CA1298286148	NEB	c.5970+61A= (n.5970+61A=)
2	g.151662075G>A	CA2605709144	NEB	c.5970+60C>T (n.5970+60C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.151662075G>T	CA2577122279	NEB	c.5970+60C>A (n.5970+60C>A)	gnomAD v4
2	g.151662077A>C	CA2661471017	NEB	c.5970+58T>G (n.5970+58T>G)	gnomAD v4
2	g.151662077A>G	CA2661471018	NEB	c.5970+58T>C (n.5970+58T>C)	gnomAD v4
2	g.151662079del	CA2661471016	NEB	c.5970+58del (n.5970+58del)	gnomAD v4
2	g.151662078A>C	CA2661471019	NEB	c.5970+57T>G (n.5970+57T>G)	gnomAD v4
2	g.151662078A>G	CA2661471020	NEB	c.5970+57T>C (n.5970+57T>C)	gnomAD v4
2	g.151662079A>C	CA2577122280	NEB	c.5970+56T>G (n.5970+56T>G)	gnomAD v4
2	g.151662079A>T	CA2700999269	NEB	c.5970+56T>A (n.5970+56T>A)	dbSNP
2	g.151662080T>C	CA2513955305	NEB	c.5970+55A>G (n.5970+55A>G)	gnomAD v4
2	g.151662080T>G	CA2661471021	NEB	c.5970+55A>C (n.5970+55A>C)	gnomAD v4
2	g.151662082A=	CA1298286149	NEB	c.5970+53T= (n.5970+53T=)
2	g.151662082A>C	CA2577122281	NEB	c.5970+53T>G (n.5970+53T>G)	gnomAD v4
2	g.151662082A>G	CA1298286150	NEB	c.5970+53T>C (n.5970+53T>C)	dbSNP
2	g.151662084del	CA2661471022	NEB	c.5970+51del (n.5970+51del)	gnomAD v4
2	g.151662085C>T	CA2661471023	NEB	c.5970+50G>A (n.5970+50G>A)	gnomAD v4
2	g.151662086C=	CA1298286151	NEB	c.5970+49G= (n.5970+49G=)
2	g.151662086C>T	CA1910218	NEB	c.5970+49G>A (n.5970+49G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662088G>C	CA537030700	NEB	c.5970+47C>G (n.5970+47C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.151662088G=	CA1298286152	NEB	c.5970+47C= (n.5970+47C=)
2	g.151662089G>A	CA1910219	NEB	c.5970+46C>T (n.5970+46C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662089G=	CA1298286153	NEB	c.5970+46C= (n.5970+46C=)
2	g.151662089G>T	CA2577122282	NEB	c.5970+46C>A (n.5970+46C>A)	gnomAD v4
2	g.151662090A=	CA1298286154	NEB	c.5970+45T= (n.5970+45T=)
2	g.151662090A>C	CA1910220	NEB	c.5970+45T>G (n.5970+45T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662092T>C	CA1910221	NEB	c.5970+43A>G (n.5970+43A>G)	dbSNP ExAC gnomAD v2
2	g.151662092T=	CA1298286155	NEB	c.5970+43A= (n.5970+43A=)
2	g.151662094T>C	CA2661471024	NEB	c.5970+41A>G (n.5970+41A>G)	gnomAD v4
2	g.151662095C=	CA1298286156	NEB	c.5970+40G= (n.5970+40G=)
2	g.151662095C>T	CA1910222	NEB	c.5970+40G>A (n.5970+40G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662096T>C	CA1910223	NEB	c.5970+39A>G (n.5970+39A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662096T=	CA1298286157	NEB	c.5970+39A= (n.5970+39A=)
2	g.151662097C>A	CA2661471025	NEB	c.5970+38G>T (n.5970+38G>T)	gnomAD v4
2	g.151662097C=	CA1298286158	NEB	c.5970+38G= (n.5970+38G=)
2	g.151662097C>G	CA1910224	NEB	c.5970+38G>C (n.5970+38G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662097C>T	CA2661471026	NEB	c.5970+38G>A (n.5970+38G>A)	gnomAD v4
2	g.151662098T>C	CA2661471027	NEB	c.5970+37A>G (n.5970+37A>G)	gnomAD v4
2	g.151662099G>A	CA1298286160	NEB	c.5970+36C>T (n.5970+36C>T)	dbSNP
2	g.151662099G=	CA1298286159	NEB	c.5970+36C= (n.5970+36C=)
2	g.151662099G>T	CA2661471028	NEB	c.5970+36C>A (n.5970+36C>A)	gnomAD v4
2	g.151662101T>C	CA537030701	NEB	c.5970+34A>G (n.5970+34A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662101T=	CA1298286161	NEB	c.5970+34A= (n.5970+34A=)
2	g.151662103C>A	CA1910225	NEB	c.5970+32G>T (n.5970+32G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662103C=	CA1298286162	NEB	c.5970+32G= (n.5970+32G=)
2	g.151662103C>T	CA758904438	NEB	c.5970+32G>A (n.5970+32G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.151662104A=	CA1298286163	NEB	c.5970+31T= (n.5970+31T=)
2	g.151662104A>G	CA537030702	NEB	c.5970+31T>C (n.5970+31T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.151662105T>A	CA1910226	NEB	c.5970+30A>T (n.5970+30A>T)	dbSNP ExAC gnomAD v2
2	g.151662105T>C	CA1910227	NEB	c.5970+30A>G (n.5970+30A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662105T=	CA1298286164	NEB	c.5970+30A= (n.5970+30A=)
2	g.151662107T>C	CA537030703	NEB	c.5970+28A>G (n.5970+28A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.151662107T=	CA1298286165	NEB	c.5970+28A= (n.5970+28A=)
2	g.151662109A>C	CA2661471029	NEB	c.5970+26T>G (n.5970+26T>G)	gnomAD v4
2	g.151662111A=	CA1298286166	NEB	c.5970+24T= (n.5970+24T=)
2	g.151662111A>G	CA1910229	NEB	c.5970+24T>C (n.5970+24T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662111_151662112delinsAC	CA1298286167	NEB	c.5970+23_5970+24delinsGT (n.5970+23_5970+24delinsGT)
2	g.151662112del	CA1910228	NEB	c.5970+23del (n.5970+23del)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662112C=	CA1298286168	NEB	c.5970+23G= (n.5970+23G=)
2	g.151662112C>T	CA1910230	NEB	c.5970+23G>A (n.5970+23G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662114C>G	CA2661471030	NEB	c.5970+21G>C (n.5970+21G>C)	gnomAD v4
2	g.151662114C>T	CA2661471031	NEB	c.5970+21G>A (n.5970+21G>A)	gnomAD v4
2	g.151662114_151662115delinsCT	CA1298286169	NEB	c.5970+20_5970+21delinsAG (n.5970+20_5970+21delinsAG)
2	g.151662115del	CA57642582	NEB	c.5970+20del (n.5970+20del)	dbSNP
2	g.151662115T>C	CA1910231	NEB	c.5970+20A>G (n.5970+20A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.151662115T>G	CA2752687388	NEB	c.5970+20A>C (n.5970+20A>C)
2	g.151662115T=	CA1298286170	NEB	c.5970+20A= (n.5970+20A=)
2	g.151662116G>A	CA537030704	NEB	c.5970+19C>T (n.5970+19C>T)	dbSNP gnomAD v2
2	g.151662116G=	CA1298286172	NEB	c.5970+19C= (n.5970+19C=)
2	g.151662116G>T	CA1298286171	NEB	c.5970+19C>A (n.5970+19C>A)	dbSNP gnomAD v4
2	g.151662120T>C	CA537030705	NEB	c.5970+15A>G (n.5970+15A>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.151662120T=	CA1298286173	NEB	c.5970+15A= (n.5970+15A=)
2	g.151662122T>C	CA1910232	NEB	c.5970+13A>G (n.5970+13A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.151662122T=	CA1298286174	NEB	c.5970+13A= (n.5970+13A=)
2	g.151662126A>C	CA2573133233	NEB	c.5970+9T>G (n.5970+9T>G)	ClinVar dbSNP
2	g.151662128_151662129del	CA2661471032	NEB	c.5970+7_5970+8del (n.5970+7_5970+8del)	gnomAD v4
2	g.151662128G>C	CA57642590	NEB	c.5970+7C>G (n.5970+7C>G)	ClinVar dbSNP gnomAD v4
2	g.151662128G=	CA1298286175	NEB	c.5970+7C= (n.5970+7C=)
2	g.151662131T>C	CA645527800	NEB	c.5970+4A>G (n.5970+4A>G)	ClinVar dbSNP COSMIC
2	g.151662131T=	CA1298286176	NEB	c.5970+4A= (n.5970+4A=)
2	g.151662133A>C	CA348805206	NEB	c.5970+2T>G (n.5970+2T>G)
2	g.151662133A>G	CA348805209	NEB	c.5970+2T>C (n.5970+2T>C)
2	g.151662133A>T	CA348805212	NEB	c.5970+2T>A (n.5970+2T>A)
2	g.151662134C>A	CA348805216	NEB	c.5970+1G>T (n.5970+1G>T)
2	g.151662134C=	CA1298286177	NEB	c.5970+1G= (n.5970+1G=)
2	g.151662134C>G	CA57642593	NEB	c.5970+1G>C (n.5970+1G>C)	dbSNP
2	g.151662134C>T	CA348805218	NEB	c.5970+1G>A (n.5970+1G>A)
2	g.151662135T>A	CA348805222	NEB	c.5970A>T (p.Glu1990Asp)	gnomAD v4
2	g.151662135T>C	CA429238733	NEB	c.5970A>G (p.Glu1990=)	gnomAD v4
2	g.151662135T>G	CA348805224	NEB	c.5970A>C (p.Glu1990Asp)
2	g.151662136T>A	CA348805229	NEB	c.5969A>T (p.Glu1990Val)
2	g.151662136T>C	CA348805232	NEB	c.5969A>G (p.Glu1990Gly)
2	g.151662136T>G	CA348805236	NEB	c.5969A>C (p.Glu1990Ala)
2	g.151662137C>A	CA348805239	NEB	c.5968G>T (p.Glu1990Ter)
2	g.151662137C=	CA1298286178	NEB	c.5968G= (p.Glu1990=)
2	g.151662137C>G	CA348805247	NEB	c.5968G>C (p.Glu1990Gln)
2	g.151662137C>T	CA1910233	NEB	c.5968G>A (p.Glu1990Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched