Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.96292863_96292918del	CA2660185971	SNRNP200	c.2160+63_2160+118del (n.2160+63_2160+118del)	gnomAD v4
2	g.96292882_96292883del	CA895728514	SNRNP200	c.2160+94_2160+95del (n.2160+94_2160+95del)	dbSNP gnomAD v3 gnomAD v4
2	g.96292880_96292883del	CA1272543424	SNRNP200	c.2160+92_2160+95del (n.2160+92_2160+95del)	dbSNP gnomAD v4
2	g.96292882_96292886del	CA2751317000	SNRNP200	c.2160+87_2160+91del (n.2160+87_2160+91del)
2	g.96292882C>A	CA52399678	SNRNP200	c.2160+90G>T (n.2160+90G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292882C=	CA1272543426	SNRNP200	c.2160+90G= (n.2160+90G=)
2	g.96292882_96292884delinsCTT	CA1272543427	SNRNP200	c.2160+88_2160+90delinsAAG (n.2160+88_2160+90delinsAAG)
2	g.96292885_96292886del	CA52399682	SNRNP200	c.2160+88_2160+89del (n.2160+88_2160+89del)	dbSNP gnomAD v4
2	g.96292884T>C	CA2660185997	SNRNP200	c.2160+88A>G (n.2160+88A>G)	dbSNP gnomAD v4
2	g.96292884T>G	CA2660185998	SNRNP200	c.2160+88A>C (n.2160+88A>C)	gnomAD v4
2	g.96292885T>C	CA2660185999	SNRNP200	c.2160+87A>G (n.2160+87A>G)	gnomAD v4
2	g.96292886T>C	CA2660186000	SNRNP200	c.2160+86A>G (n.2160+86A>G)	gnomAD v4
2	g.96292887A>T	CA2660186001	SNRNP200	c.2160+85T>A (n.2160+85T>A)	gnomAD v4
2	g.96292888A=	CA1272543428	SNRNP200	c.2160+84T= (n.2160+84T=)
2	g.96292888A>G	CA2660186002	SNRNP200	c.2160+84T>C (n.2160+84T>C)	gnomAD v4
2	g.96292888A>T	CA52399683	SNRNP200	c.2160+84T>A (n.2160+84T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.96292889T>C	CA2660186004	SNRNP200	c.2160+83A>G (n.2160+83A>G)	gnomAD v4
2	g.96292889T>G	CA895728519	SNRNP200	c.2160+83A>C (n.2160+83A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.96292889T=	CA1272543429	SNRNP200	c.2160+83A= (n.2160+83A=)
2	g.96292891dup	CA1272543430	SNRNP200	c.2160+83dup (n.2160+83dup)	dbSNP gnomAD v4
2	g.96292892_96292893del	CA2660186005	SNRNP200	c.2160+80_2160+81del (n.2160+80_2160+81del)	gnomAD v4
2	g.96292893T>C	CA2660186006	SNRNP200	c.2160+79A>G (n.2160+79A>G)	gnomAD v4
2	g.96292894G>A	CA1033977736	SNRNP200	c.2160+78C>T (n.2160+78C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.96292894G=	CA1272543431	SNRNP200	c.2160+78C= (n.2160+78C=)
2	g.96292894G>T	CA2660186007	SNRNP200	c.2160+78C>A (n.2160+78C>A)	gnomAD v4
2	g.96292895T>A	CA2551669168	SNRNP200	c.2160+77A>T (n.2160+77A>T)	gnomAD v4
2	g.96292896C=	CA1272543432	SNRNP200	c.2160+76G= (n.2160+76G=)
2	g.96292896C>T	CA2660186009	SNRNP200	c.2160+76G>A (n.2160+76G>A)	gnomAD v4
2	g.96292897A=	CA1272543434	SNRNP200	c.2160+75T= (n.2160+75T=)
2	g.96292897A>C	CA2751317008	SNRNP200	c.2160+75T>G (n.2160+75T>G)
2	g.96292897A>G	CA52399684	SNRNP200	c.2160+75T>C (n.2160+75T>C)	dbSNP
2	g.96292897_96292898dup	CA1272543433	SNRNP200	c.2160+74_2160+75dup (n.2160+74_2160+75dup)	dbSNP gnomAD v3 gnomAD v4
2	g.96292898A>G	CA2577035100	SNRNP200	c.2160+74T>C (n.2160+74T>C)	gnomAD v4
2	g.96292900C>A	CA52399685	SNRNP200	c.2160+72G>T (n.2160+72G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292900C=	CA1272543435	SNRNP200	c.2160+72G= (n.2160+72G=)
2	g.96292900C>T	CA2751317010	SNRNP200	c.2160+72G>A (n.2160+72G>A)
2	g.96292903C=	CA1272543436	SNRNP200	c.2160+69G= (n.2160+69G=)
2	g.96292903C>T	CA52399686	SNRNP200	c.2160+69G>A (n.2160+69G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.96292904C>A	CA2577035101	SNRNP200	c.2160+68G>T (n.2160+68G>T)
2	g.96292904C>T	CA2660186012	SNRNP200	c.2160+68G>A (n.2160+68G>A)	gnomAD v4
2	g.96292905C>A	CA2660186014	SNRNP200	c.2160+67G>T (n.2160+67G>T)	gnomAD v4
2	g.96292906C>A	CA2660186015	SNRNP200	c.2160+66G>T (n.2160+66G>T)	gnomAD v4
2	g.96292907A>C	CA2660186016	SNRNP200	c.2160+65T>G (n.2160+65T>G)	gnomAD v4
2	g.96292907A>T	CA1033977740	SNRNP200	c.2160+65T>A (n.2160+65T>A)	gnomAD v3 gnomAD v4
2	g.96292908A>G	CA2660186017	SNRNP200	c.2160+64T>C (n.2160+64T>C)	gnomAD v4
2	g.96292910T>A	CA2577035102	SNRNP200	c.2160+62A>T (n.2160+62A>T)
2	g.96292912T>C	CA1033977744	SNRNP200	c.2160+60A>G (n.2160+60A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.96292912T=	CA1272543437	SNRNP200	c.2160+60A= (n.2160+60A=)
2	g.96292914G>A	CA1272543439	SNRNP200	c.2160+58C>T (n.2160+58C>T)	dbSNP
2	g.96292914G>C	CA52399689	SNRNP200	c.2160+58C>G (n.2160+58C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292914G=	CA1272543438	SNRNP200	c.2160+58C= (n.2160+58C=)
2	g.96292914G>T	CA2660186018	SNRNP200	c.2160+58C>A (n.2160+58C>A)	gnomAD v4
2	g.96292915G>T	CA2660186019	SNRNP200	c.2160+57C>A (n.2160+57C>A)	gnomAD v4
2	g.96292916T>C	CA534376427	SNRNP200	c.2160+56A>G (n.2160+56A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292916T>G	CA2577035103	SNRNP200	c.2160+56A>C (n.2160+56A>C)
2	g.96292916T=	CA1272543440	SNRNP200	c.2160+56A= (n.2160+56A=)
2	g.96292917G>A	CA52399693	SNRNP200	c.2160+55C>T (n.2160+55C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.96292917G=	CA1272543441	SNRNP200	c.2160+55C= (n.2160+55C=)
2	g.96292920T>C	CA52399702	SNRNP200	c.2160+52A>G (n.2160+52A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292920T=	CA1272543442	SNRNP200	c.2160+52A= (n.2160+52A=)
2	g.96292922A=	CA1272543443	SNRNP200	c.2160+50T= (n.2160+50T=)
2	g.96292922A>C	CA1033977754	SNRNP200	c.2160+50T>G (n.2160+50T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.96292924A=	CA1272543444	SNRNP200	c.2160+48T= (n.2160+48T=)
2	g.96292924A>G	CA1272543445	SNRNP200	c.2160+48T>C (n.2160+48T>C)	dbSNP gnomAD v4
2	g.96292928T>C	CA895728536	SNRNP200	c.2160+44A>G (n.2160+44A>G)	dbSNP
2	g.96292928T=	CA1272543446	SNRNP200	c.2160+44A= (n.2160+44A=)
2	g.96292929C>A	CA2660186023	SNRNP200	c.2160+43G>T (n.2160+43G>T)	gnomAD v4
2	g.96292929C=	CA1272543447	SNRNP200	c.2160+43G= (n.2160+43G=)
2	g.96292929C>G	CA2660186025	SNRNP200	c.2160+43G>C (n.2160+43G>C)	gnomAD v4
2	g.96292929C>T	CA52399703	SNRNP200	c.2160+43G>A (n.2160+43G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292930G>A	CA1778758	SNRNP200	c.2160+42C>T (n.2160+42C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292930G=	CA1272543448	SNRNP200	c.2160+42C= (n.2160+42C=)
2	g.96292933_96292937delinsAGAAT	CA1272543449	SNRNP200	c.2160+35_2160+39delinsATTCT (n.2160+35_2160+39delinsATTCT)
2	g.96292934G>C	CA1272543451	SNRNP200	c.2160+38C>G (n.2160+38C>G)	dbSNP
2	g.96292934G=	CA1272543450	SNRNP200	c.2160+38C= (n.2160+38C=)
2	g.96292935_96292938del	CA1778759	SNRNP200	c.2160+35_2160+38del (n.2160+35_2160+38del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292936A>G	CA2660186029	SNRNP200	c.2160+36T>C (n.2160+36T>C)	gnomAD v4
2	g.96292937T>C	CA2699990099	SNRNP200	c.2160+35A>G (n.2160+35A>G)	dbSNP
2	g.96292938G>A	CA52399706	SNRNP200	c.2160+34C>T (n.2160+34C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292938G=	CA1272543452	SNRNP200	c.2160+34C= (n.2160+34C=)
2	g.96292938G>T	CA2660186030	SNRNP200	c.2160+34C>A (n.2160+34C>A)	gnomAD v4
2	g.96292939G>A	CA534376428	SNRNP200	c.2160+33C>T (n.2160+33C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292939G=	CA1272543453	SNRNP200	c.2160+33C= (n.2160+33C=)
2	g.96292939G>T	CA2577035104	SNRNP200	c.2160+33C>A (n.2160+33C>A)
2	g.96292940G>T	CA2660186036	SNRNP200	c.2160+32C>A (n.2160+32C>A)	gnomAD v4
2	g.96292941G>A	CA1778760	SNRNP200	c.2160+31C>T (n.2160+31C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292941G=	CA1272543454	SNRNP200	c.2160+31C= (n.2160+31C=)
2	g.96292942T>A	CA2660186041	SNRNP200	c.2160+30A>T (n.2160+30A>T)	gnomAD v4
2	g.96292943T>G	CA1778761	SNRNP200	c.2160+29A>C (n.2160+29A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292943T=	CA1272543455	SNRNP200	c.2160+29A= (n.2160+29A=)
2	g.96292944C>T	CA2660186043	SNRNP200	c.2160+28G>A (n.2160+28G>A)	gnomAD v4
2	g.96292946A=	CA1272543456	SNRNP200	c.2160+26T= (n.2160+26T=)
2	g.96292946A>C	CA52399730	SNRNP200	c.2160+26T>G (n.2160+26T>G)	dbSNP
2	g.96292947G>C	CA1778762	SNRNP200	c.2160+25C>G (n.2160+25C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292947G=	CA1272543457	SNRNP200	c.2160+25C= (n.2160+25C=)
2	g.96292953C>A	CA1778763	SNRNP200	c.2160+19G>T (n.2160+19G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292953C=	CA1272543458	SNRNP200	c.2160+19G= (n.2160+19G=)
2	g.96292955A>C	CA2660186047	SNRNP200	c.2160+17T>G (n.2160+17T>G)	gnomAD v4
2	g.96292956T>A	CA2751317025	SNRNP200	c.2160+16A>T (n.2160+16A>T)
2	g.96292961C=	CA1272543459	SNRNP200	c.2160+11G= (n.2160+11G=)
2	g.96292961C>T	CA1778764	SNRNP200	c.2160+11G>A (n.2160+11G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292963C>A	CA1033977774	SNRNP200	c.2160+9G>T (n.2160+9G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.96292963C=	CA1272543460	SNRNP200	c.2160+9G= (n.2160+9G=)
2	g.96292963C>T	CA1778765	SNRNP200	c.2160+9G>A (n.2160+9G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292964G>A	CA52399750	SNRNP200	c.2160+8C>T (n.2160+8C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292964G=	CA1272543461	SNRNP200	c.2160+8C= (n.2160+8C=)
2	g.96292964G>T	CA1778766	SNRNP200	c.2160+8C>A (n.2160+8C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96292965G>A	CA534376429	SNRNP200	c.2160+7C>T (n.2160+7C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.96292965G=	CA1272543462	SNRNP200	c.2160+7C= (n.2160+7C=)
2	g.96292968A=	CA1272543463	SNRNP200	c.2160+4T= (n.2160+4T=)
2	g.96292968A>G	CA534376430	SNRNP200	c.2160+4T>C (n.2160+4T>C)	dbSNP gnomAD v2
2	g.96292969A>C	CA2660186061	SNRNP200	c.2160+3T>G (n.2160+3T>G)	gnomAD v4
2	g.96292970A>C	CA347678874	SNRNP200	c.2160+2T>G (n.2160+2T>G)
2	g.96292970A>G	CA347678880	SNRNP200	c.2160+2T>C (n.2160+2T>C)
2	g.96292970A>T	CA347678883	SNRNP200	c.2160+2T>A (n.2160+2T>A)
2	g.96292971C>A	CA347678886	SNRNP200	c.2160+1G>T (n.2160+1G>T)
2	g.96292971C>G	CA347678888	SNRNP200	c.2160+1G>C (n.2160+1G>C)
2	g.96292971C>T	CA347678891	SNRNP200	c.2160+1G>A (n.2160+1G>A)
2	g.96292972C>A	CA347678895	SNRNP200	c.2160G>T (p.Gln720His)
2	g.96292972C>G	CA347678894	SNRNP200	c.2160G>C (p.Gln720His)
2	g.96292972C>T	CA427499972	SNRNP200	c.2160G>A (p.Gln720=)
2	g.96292973T>A	CA347678898	SNRNP200	c.2159A>T (p.Gln720Leu)
2	g.96292973T>C	CA347678901	SNRNP200	c.2159A>G (p.Gln720Arg)
2	g.96292973T>G	CA347678904	SNRNP200	c.2159A>C (p.Gln720Pro)
2	g.96292974G>A	CA347678907	SNRNP200	c.2158C>T (p.Gln720Ter)
2	g.96292974G>C	CA347678910	SNRNP200	c.2158C>G (p.Gln720Glu)
2	g.96292974G>T	CA347678912	SNRNP200	c.2158C>A (p.Gln720Lys)
2	g.96292975A=	CA1272543464	SNRNP200	c.2157T= (p.Asn719=)
2	g.96292975A>C	CA347678914	SNRNP200	c.2157T>G (p.Asn719Lys)
2	g.96292975A>G	CA427499974	SNRNP200	c.2157T>C (p.Asn719=)	dbSNP gnomAD v2
2	g.96292975A>T	CA347678915	SNRNP200	c.2157T>A (p.Asn719Lys)
2	g.96292976T>A	CA347678919	SNRNP200	c.2156A>T (p.Asn719Ile)
2	g.96292976T>C	CA347678921	SNRNP200	c.2156A>G (p.Asn719Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.96292976T>G	CA347678924	SNRNP200	c.2156A>C (p.Asn719Thr)
2	g.96292976T=	CA1272543465	SNRNP200	c.2156A= (p.Asn719=)
2	g.96292977T>A	CA347678925	SNRNP200	c.2155A>T (p.Asn719Tyr)
2	g.96292977T>C	CA1778767	SNRNP200	c.2155A>G (p.Asn719Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96292977T>G	CA347678927	SNRNP200	c.2155A>C (p.Asn719His)
2	g.96292977T=	CA1272543466	SNRNP200	c.2155A= (p.Asn719=)
2	g.96292978T>A	CA347678931	SNRNP200	c.2154A>T (p.Lys718Asn)
2	g.96292978T>C	CA427499977	SNRNP200	c.2154A>G (p.Lys718=)
2	g.96292978T>G	CA347678928	SNRNP200	c.2154A>C (p.Lys718Asn)
2	g.96292979T>A	CA347678932	SNRNP200	c.2153A>T (p.Lys718Ile)
2	g.96292979T>C	CA347678938	SNRNP200	c.2153A>G (p.Lys718Arg)
2	g.96292979T>G	CA347678935	SNRNP200	c.2153A>C (p.Lys718Thr)
2	g.96292980T>A	CA347678942	SNRNP200	c.2152A>T (p.Lys718Ter)
2	g.96292980T>C	CA347678947	SNRNP200	c.2152A>G (p.Lys718Glu)
2	g.96292980T>G	CA347678944	SNRNP200	c.2152A>C (p.Lys718Gln)
2	g.96292981T>A	CA427499982	SNRNP200	c.2151A>T (p.Gly717=)
2	g.96292981T>C	CA427499983	SNRNP200	c.2151A>G (p.Gly717=)	dbSNP gnomAD v4
2	g.96292981T>G	CA427499984	SNRNP200	c.2151A>C (p.Gly717=)
2	g.96292981T=	CA1272543467	SNRNP200	c.2151A= (p.Gly717=)
2	g.96292982C>A	CA347678949	SNRNP200	c.2150G>T (p.Gly717Val)
2	g.96292982C>G	CA347678952	SNRNP200	c.2150G>C (p.Gly717Ala)
2	g.96292982C>T	CA347678954	SNRNP200	c.2150G>A (p.Gly717Glu)	COSMIC

Number of alleles fetched