ClinVar for MedGen (Select 83339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3012014	NM_014009.4(FOXP3):c.786G>A (p.Gly262=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3009934	NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)	FOXP3 (A56T)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3008832	NM_014009.4(FOXP3):c.195A>T (p.Pro65=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3006911	NM_014009.4(FOXP3):c.84T>C (p.Ala28=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3002694	NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)	FOXP3 (T44S)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 3000996	NM_014009.4(FOXP3):c.981C>T (p.Asn327=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2987428	NM_014009.4(FOXP3):c.318C>T (p.Leu106=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2981576	NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)	FOXP3 (L246R +1 more)	Inversion (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2980150	NM_014009.4(FOXP3):c.968-17T>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2980146	NM_014009.4(FOXP3):c.968-13del	FOXP3	Deletion (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 2977418	NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)	FOXP3 (G83E)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2975412	NM_014009.4(FOXP3):c.444C>T (p.Gly148=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2965112	NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)	FOXP3 (S175N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2910487	NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)	FOXP3 (Y329C +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2893565	NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)	FOXP3 (G203R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2885000	NM_014009.4(FOXP3):c.817-10C>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2867320	NM_014009.4(FOXP3):c.420C>G (p.Val140=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2858895	NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)	FOXP3 (S236P +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2852873	NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)	FOXP3 (V105L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2850525	NM_014009.4(FOXP3):c.606C>T (p.Pro202=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2844505	NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)	FOXP3 (E208K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2840049	NM_014009.4(FOXP3):c.543-5C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2837990	NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)	FOXP3 (T136I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2835424	NM_014009.4(FOXP3):c.542+6T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2833808	NM_014009.4(FOXP3):c.1045-15C>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2827811	NM_014009.4(FOXP3):c.648-3T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2827014	NM_014009.4(FOXP3):c.1045-6T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2822037	NM_014009.4(FOXP3):c.816G>A (p.Val272=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2813536	NM_014009.4(FOXP3):c.210+5G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2812165	NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)	FOXP3 (A32S)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2811319	NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)	FOXP3 (L71V)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2794578	NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)	FOXP3 (S418G +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2788912	NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)	FOXP3 (S219N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2776984	NM_014009.4(FOXP3):c.1119C>T (p.Phe373=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2760890	NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)	FOXP3 (F296S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2745750	NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)	FOXP3 (S383T +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2745216	NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)	FOXP3 (V77L)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2743402	NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)	FOXP3 (W295R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2724536	NM_014009.4(FOXP3):c.660G>A (p.Ala220=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2721887	NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)	FOXP3 (V248L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2718682	NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)	FOXP3 (R382W +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2715771	NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)	FOXP3 (G21R)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2704260	NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)	FOXP3 (V207I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2675750	NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)	FOXP3 (M335I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2675749	NM_014009.4(FOXP3):c.315+1G>A	FOXP3	Single nucleotide variant (intron variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2660530	NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GLikely benign
Select item 2584421	NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)	FOXP3 (C389Y +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2500871	NM_014009.4(FOXP3):c.542+2T>G	FOXP3	Single nucleotide variant (splice donor variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2441554	NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)	FOXP3 (P157L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2440311	NM_014009.4(FOXP3):c.543-2A>G	FOXP3	Single nucleotide variant (splice acceptor variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2431861	NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)	FOXP3 (V204A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2416693	NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)	FOXP3 (G279S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2415846	NM_014009.4(FOXP3):c.455-19G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2197781	NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)	FOXP3 (L123Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2185400	NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)	FOXP3 (V126A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2184362	NM_014009.4(FOXP3):c.372G>A (p.Glu124=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2180352	NM_014009.4(FOXP3):c.174T>C (p.Ser58=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2172172	NM_014009.4(FOXP3):c.226C>G (p.Leu76Val)	FOXP3 (L76V)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2167678	NM_014009.4(FOXP3):c.1045-14C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2167133	NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)	FOXP3 (P139R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2155572	NM_014009.4(FOXP3):c.1147-12G>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 2148481	NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)	FOXP3 (A220E +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2146076	NM_014009.4(FOXP3):c.205C>G (p.Leu69Val)	FOXP3 (L69V)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2133612	NM_014009.4(FOXP3):c.543-3dup	FOXP3	Duplication (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 2127491	NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)	FOXP3 (L167M +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2124484	NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)	FOXP3 (P81S)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2112855	NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)	FOXP3 (W278L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2101212	NM_014009.4(FOXP3):c.1285C>T (p.Pro429Ser)	FOXP3 (P429S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2087757	NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)	FOXP3 (T267P +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2083959	NM_014009.4(FOXP3):c.-23+3G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2082572	NM_014009.4(FOXP3):c.542+8G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2074049	NM_014009.4(FOXP3):c.1227T>C (p.Asp409=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2072717	NM_014009.4(FOXP3):c.817-11C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2069931	NM_014009.4(FOXP3):c.162C>T (p.Ala54=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2069618	NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)	FOXP3 (G314D +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2063372	NM_014009.4(FOXP3):c.1146+8C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2058379	NM_014009.4(FOXP3):c.1026C>T (p.Tyr342=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2051053	NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)	FOXP3 (S125N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2008237	NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)	FOXP3 (P75S)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2006625	NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)	FOXP3 (F305L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2005744	NM_014009.4(FOXP3):c.762T>C (p.Ser254=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2001388	NM_014009.4(FOXP3):c.1146+16G>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1997213	NM_014009.4(FOXP3):c.1044+16C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1992842	NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)	FOXP3 (R417Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1985495	NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)	FOXP3 (A284V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1984407	NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)	FOXP3 (N3K)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1973308	NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)	FOXP3 (A32V)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1947433	NM_014009.4(FOXP3):c.1277A>G (p.Asn426Ser)	FOXP3 (N391S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1931476	NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)	FOXP3 (P63L)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1930662	NM_014009.4(FOXP3):c.735+13C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1929294	NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)	FOXP3 (P255L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1927266	NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)	FOXP3 (T309M +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1923344	NM_014009.4(FOXP3):c.968-12A>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1912040	NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)	FOXP3 (D241N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 1910244	NM_014009.4(FOXP3):c.315+9G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1908699	NM_014009.4(FOXP3):c.543-16C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1907030	NM_014009.4(FOXP3):c.954C>T (p.Asn318=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1901898	NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)	FOXP3 (R114Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1898460	NM_014009.4(FOXP3):c.735+17G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign

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