ClinVar for MedGen (Select 82895) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338430	GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3	ALDOA, C16orf54 +9 more	Copy number gain	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 3023597	NM_001243177.4(ALDOA):c.487-14C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3021909	NM_001243177.4(ALDOA):c.702+7C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3013293	NM_001243177.4(ALDOA):c.787-2A>G	ALDOA, LOC112694756	Single nucleotide variant (splice acceptor variant)	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 3010638	NM_001243177.4(ALDOA):c.541+8C>T	LOC112694756, ALDOA	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 3006415	NM_001243177.4(ALDOA):c.486+19G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2989202	NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2965589	NM_001243177.4(ALDOA):c.1162-14C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2959766	NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2957206	NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)	LOC112694756, ALDOA	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2956786	NM_001243177.4(ALDOA):c.786+2T>C	ALDOA, LOC112694756	Single nucleotide variant (splice donor variant)	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 2955074	NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)	ALDOA, LOC112694756 (R255C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2918884	NM_001243177.4(ALDOA):c.1161+9A>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2914036	NM_001243177.4(ALDOA):c.1248C>T (p.His416=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2911800	NM_001243177.4(ALDOA):c.487-19G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2907378	NM_001243177.4(ALDOA):c.486+18G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2897358	NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2887855	NM_001243177.4(ALDOA):c.702+20A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2884795	NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2882271	NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2874121	NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2871633	NM_001243177.4(ALDOA):c.275-15A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2867845	NM_001243177.4(ALDOA):c.786+11A>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2864674	NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2819101	NM_001243177.4(ALDOA):c.1161+9_1161+19dup	ALDOA, LOC112694756	Duplication (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2803048	NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)	ALDOA, LOC112694756 (L117fs +1 more)	Deletion (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GPathogenic
Select item 2800487	NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)	ALDOA, LOC112694756 (S336T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2799232	NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2797662	NM_001243177.4(ALDOA):c.787-4C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2794834	NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)	ALDOA, LOC112694756 (V254L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2788160	NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)	ALDOA, LOC112694756 (T52I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2781213	NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2770762	NM_001243177.4(ALDOA):c.703-12C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2742443	NM_001243177.4(ALDOA):c.275-11G>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2730389	NM_001243177.4(ALDOA):c.486+9A>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2709201	NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)	ALDOA, LOC112694756 (D68N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2698627	NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2697160	NM_001243177.4(ALDOA):c.702+12G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2690882	NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)	ALDOA, LOC112694756 (A332T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690881	NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)	ALDOA, LOC112694756 (L333fs +1 more)	Deletion (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690880	NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)	ALDOA, LOC112694756 (E108G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2690879	NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)	ALDOA, LOC112694756 (L337V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438983	NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)	ALDOA, LOC112694756 (N283S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438982	NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)	ALDOA, LOC112694756 (A308V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438981	NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)	ALDOA, LOC112694756 (K318E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438980	NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)	ALDOA, LOC112694756 (R173H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2438979	NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)	ALDOA, LOC112694756 (K330R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2428602	NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2428580	NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)	ALDOA, LOC112694756 (T255A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2418505	NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2416717	NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)	ALDOA, LOC112694756 (R258H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2201731	NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2198672	NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2196420	NM_001243177.4(ALDOA):c.703-9G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2196079	NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2194937	NM_001243177.4(ALDOA):c.702+17T>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2190522	NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)	ALDOA, LOC112694756 (E327K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2186445	NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)	ALDOA, LOC112694756 (P115S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2183470	NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2181264	NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2179596	NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2177784	NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)	ALDOA, LOC112694756 (A163T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2177448	NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2175229	NM_001243177.4(ALDOA):c.275-9C>G	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2173597	NM_001243177.4(ALDOA):c.486+17C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2173277	NM_001243177.4(ALDOA):c.703-10C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2171117	NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)	ALDOA, LOC112694756 (R123H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2169337	NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)	ALDOA, LOC112694756 (R134C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2169150	NM_001243177.4(ALDOA):c.787-12G>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2168553	NM_001243177.4(ALDOA):c.962-8C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2167636	NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)	ALDOA, LOC112694756 (R331Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2167478	NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)	LOC112694756, ALDOA (H238Q +1 more)	Single nucleotide variant (missense variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2167021	NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)	ALDOA, LOC112694756 (A212V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2162702	NM_001243177.4(ALDOA):c.1162-16C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2158705	NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)	ALDOA, LOC112694756 (A20T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2154554	NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)	ALDOA, LOC112694756 (V151L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2153998	NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)	ALDOA, LOC112694756 (V113M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2153552	NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)	ALDOA, LOC112694756 (G103S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2150561	NM_001243177.4(ALDOA):c.1162-14C>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2150435	NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)	ALDOA, LOC112694756 (T106A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2146663	NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)	ALDOA, LOC112694756 (Y214C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2143388	NM_001243177.4(ALDOA):c.787-17C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2140953	NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2139483	NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)	ALDOA, LOC112694756 (R312C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2136977	NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2135304	NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2131259	NM_001243177.4(ALDOA):c.703-7C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2113458	NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)	ALDOA, LOC112694756 (I101T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2113231	NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2109238	NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)	ALDOA, LOC112694756 (L375P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2098243	NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)	ALDOA, LOC112694756 (G175D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2090569	NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)	ALDOA, LOC112694756 (K342E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2081190	NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2080740	NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2079812	NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)	ALDOA, LOC112694756 (V267L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2078379	NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)	ALDOA, LOC112694756 (V241M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2077617	NM_001243177.4(ALDOA):c.486+10G>A	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	HNSHA due to aldolase A deficiency	GLikely benign
Select item 2077603	NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)	ALDOA, LOC112694756 (A61T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2077160	NM_001243177.4(ALDOA):c.951del (p.Ala318fs)	ALDOA, LOC112694756 (A264fs +1 more)	Deletion (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance
Select item 2076563	NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)	ALDOA, LOC112694756 (M287I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency	GUncertain significance

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