Related gene-specific medical variations for Gene (Select 1137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361407	NM_000744.7(CHRNA4):c.719G>C (p.Arg240Pro)	CHRNA4 (R240P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360614	NM_000744.7(CHRNA4):c.1657_1659delinsTCA (p.Ala553Ser)	CHRNA4 (A377S +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3255314	NM_000744.7(CHRNA4):c.383+464G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255299	NM_000744.7(CHRNA4):c.383+378A>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255233	NM_000744.7(CHRNA4):c.-30C>G	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 3020174	NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2991327	NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2904335	NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)	CHRNA4, LOC126863087 (P114L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2876030	NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)	CHRNA4, LOC100130587 (G7E)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2872750	NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2863745	NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2858921	NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)	CHRNA4, LOC100130587 (R25H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2857877	NM_000744.7(CHRNA4):c.273+9G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2838974	NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2825891	NM_000744.7(CHRNA4):c.383+3G>A	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2821590	NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)	CHRNA4, LOC100130587 (R10L)	Indel (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2813772	NM_000744.7(CHRNA4):c.252C>T (p.Thr84=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2807029	NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)	CHRNA4, LOC100130587 (R10G)	Indel (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2798834	NM_000744.7(CHRNA4):c.76+12G>C	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2797103	NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)	CHRNA4, LOC126863087 (R99C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2787681	NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)	CHRNA4, LOC100130587 (G7R)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2783665	NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)	CHRNA4, LOC100130587 (P9S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2775721	NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)	CHRNA4, LOC100130587 (P13L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2763198	NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2752874	NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)	CHRNA4, LOC126863087 (R112H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2752438	NM_000744.7(CHRNA4):c.274-3C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2749398	NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)	CHRNA4, LOC126863087 (N127S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 2743190	NM_000744.7(CHRNA4):c.76+9C>G	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2742584	NM_000744.7(CHRNA4):c.315T>C (p.Tyr105=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2722580	NM_000744.7(CHRNA4):c.274-20C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2632953	NM_000744.7(CHRNA4):c.240C>A (p.Asn80Lys)	CHRNA4, LOC126863087 (N80K)	Single nucleotide variant (missense variant +2 more)	CHRNA4-related disorder	GUncertain significance
Select item 2440027	NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)	CHRNA4 (C357S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1	GUncertain significance
Select item 2440026	NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)	CHRNA4 (S186F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1	GUncertain significance
Select item 2440025	NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)	CHRNA4 (P350L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1	GUncertain significance
Select item 2197274	NM_000744.7(CHRNA4):c.274-17C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2190204	NM_000744.7(CHRNA4):c.366C>T (p.Asp122=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2023428	NM_000744.7(CHRNA4):c.18C>G (p.Pro6=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 2004076	NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)	CHRNA4, LOC100130587	Duplication (inframe_insertion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1959326	NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)	CHRNA4, LOC126863087 (N128del)	Microsatellite (inframe_deletion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1925667	NM_000744.7(CHRNA4):c.76+13G>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1916534	NM_000744.7(CHRNA4):c.383+14A>G	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1907569	NM_000744.7(CHRNA4):c.274-16G>A	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1803400	NM_000744.7(CHRNA4):c.325A>G (p.Thr109Ala)	CHRNA4, LOC126863087 (T109A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1793622	NM_000744.7(CHRNA4):c.259G>T (p.Val87Leu)	CHRNA4, LOC126863087 (V87L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1792235	NM_000744.7(CHRNA4):c.24G>T (p.Ala8=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1660403	NM_000744.7(CHRNA4):c.383+13C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1644955	NM_000744.7(CHRNA4):c.15C>G (p.Gly5=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1627504	NM_000744.7(CHRNA4):c.229-5C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1621487	NM_000744.7(CHRNA4):c.358C>A (p.Arg120=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1618411	NM_000744.7(CHRNA4):c.76+10G>A	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1611872	NM_000744.7(CHRNA4):c.274-19C>G	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1611691	NM_000744.7(CHRNA4):c.51G>C (p.Leu17=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1609429	NM_000744.7(CHRNA4):c.21A>G (p.Gly7=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1608992	NM_000744.7(CHRNA4):c.383+16C>T	CHRNA4, LOC126863087	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1604703	NM_000744.7(CHRNA4):c.270G>A (p.Lys90=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1590970	NM_000744.7(CHRNA4):c.36G>A (p.Leu12=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1589170	NM_000744.7(CHRNA4):c.273+14C>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1583613	NM_000744.7(CHRNA4):c.229-17C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1573900	NM_000744.7(CHRNA4):c.76+19G>A	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1573280	NM_000744.7(CHRNA4):c.42G>T (p.Pro14=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1571895	NM_000744.7(CHRNA4):c.273+13G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1531783	NM_000744.7(CHRNA4):c.274-14C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1514420	NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)	CHRNA4, LOC126863087 (W88*)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1475080	NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)	CHRNA4, LOC126863087 (E116D)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1437250	NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln)	CHRNA4, LOC100130587 (L3Q)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1412214	NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln)	CHRNA4, LOC100130587 (E2Q)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1395814	NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly)	CHRNA4, LOC100130587 (R10G)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1387220	NM_000744.7(CHRNA4):c.382_383+1dup	CHRNA4, LOC126863087	Duplication (5 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1377651	NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup)	CHRNA4, LOC100130587	Microsatellite (inframe_insertion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1363839	NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu)	CHRNA4, LOC100130587 (M1L)	Single nucleotide variant (missense variant +3 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1351720	NM_000744.7(CHRNA4):c.9del (p.Gly5fs)	CHRNA4, LOC100130587 (G5fs)	Deletion (frameshift variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1335859	NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)	CHRNA4, LOC100130587 (M1T)	Single nucleotide variant (missense variant +3 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 1307578	NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del)	CHRNA4, LOC100130587	Deletion (inframe_deletion +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1291076	NM_000744.7(CHRNA4):c.-182C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289592	NM_000744.7(CHRNA4):c.-183C>T	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270871	NM_000744.7(CHRNA4):c.229-26G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264503	NM_000744.7(CHRNA4):c.76+95C>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238055	NM_000744.7(CHRNA4):c.229-55G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237828	NM_000744.7(CHRNA4):c.274-63T>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232192	NM_000744.7(CHRNA4):c.274-75A>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223973	NM_000744.7(CHRNA4):c.274-40C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217837	NM_000744.7(CHRNA4):c.383+279G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206616	NM_000744.7(CHRNA4):c.273+49C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202916	NM_000744.7(CHRNA4):c.258C>A (p.Asn86Lys)	CHRNA4, LOC126863087 (N86K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1196712	NM_000744.7(CHRNA4):c.8T>G (p.Leu3Arg)	CHRNA4, LOC100130587 (L3R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1192834	NM_000744.7(CHRNA4):c.274-136C>T	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178815	NM_000744.7(CHRNA4):c.383+198G>A	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162862	NM_000744.7(CHRNA4):c.16C>G (p.Pro6Ala)	CHRNA4, LOC100130587 (P6A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1151069	NM_000744.7(CHRNA4):c.282C>T (p.His94=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1130669	NM_000744.7(CHRNA4):c.66C>T (p.Gly22=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1125350	NM_000744.7(CHRNA4):c.261A>C (p.Val87=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1097000	NM_000744.7(CHRNA4):c.73C>T (p.Arg25Cys)	CHRNA4, LOC100130587 (R25C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1091706	NM_000744.7(CHRNA4):c.363G>C (p.Pro121=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1089365	NM_000744.7(CHRNA4):c.274-9C>T	CHRNA4, LOC126863087	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1087585	NM_000744.7(CHRNA4):c.237G>A (p.Lys79=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GLikely benign
Select item 1063842	NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)	CHRNA4, LOC126863087 (I123V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1060121	NM_000744.7(CHRNA4):c.57G>A (p.Leu19=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1043970	NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val)	CHRNA4, LOC100130587 (G5V)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1025892	NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)	CHRNA4, LOC126863087 (R112C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 1025372	NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)	CHRNA4, LOC126863087 (P102L)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance

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