C4310707[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707015	NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 71 +4 more	GBenign/Likely benign
Select item 97022	NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172, KRTCAP3 (C1727R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GPathogenic
Select item 1529224	NM_015662.3(IFT172):c.5161-20G>A	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GBenign/Likely benign
Select item 968095	NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)	IFT172, KRTCAP3 (M1717L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1120654	NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)	IFT172, KRTCAP3 (N1708K +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1382803	NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)	IFT172, KRTCAP3 (R1702W +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 567846	NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)	IFT172, KRTCAP3 (L1687F +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1455123	NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)	IFT172, KRTCAP3 (R1682* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 1036252	NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)	IFT172, KRTCAP3 (E1666K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 964187	NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)	KRTCAP3, IFT172 (R1664Q +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 843644	NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)	IFT172, KRTCAP3 (M1654V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GConflicting classifications of pathogenicity
Select item 1360420	NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)	KRTCAP3, IFT172	Deletion (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1001774	NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)	IFT172, KRTCAP3 (R1646Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 97023	NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)	IFT172, KRTCAP3 (R1642fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 71 +2 more	GPathogenic
Select item 1000135	NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)	IFT172, KRTCAP3 (H1636Q +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1036167	NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)	IFT172, KRTCAP3 (T1623A +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 388317	NM_015662.3(IFT172):c.4815+9G>A	KRTCAP3, IFT172	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 20 +3 more	GBenign/Likely benign
Select item 1118389	NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)	IFT172, KRTCAP3	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 843597	NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)	IFT172, KRTCAP3 (T1604I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 767173	NM_015662.3(IFT172):c.4755+9G>C	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GBenign/Likely benign
Select item 662250	NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)	IFT172, KRTCAP3 (R1559S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1047458	NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)	IFT172, KRTCAP3 (A1558V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 451341	NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	IFT172, KRTCAP3 (V1556M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 379766	NM_015662.3(IFT172):c.4659+16T>C	IFT172	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 20 +4 more	GBenign/Likely benign
Select item 1641669	NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 97024	NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	IFT172 (R1544C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 1506359	NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)	IFT172 (T1543A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 972285	NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)	IFT172 (Y1541C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 1107886	NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)	IFT172 (F1531L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 938111	NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)	IFT172 (E1530K)	Single nucleotide variant (missense variant)	IFT172-related disorder +3 more	GUncertain significance
Select item 1607102	NM_015662.3(IFT172):c.4539+11G>A	IFT172	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 1394651	NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)	IFT172 (R1507*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 71 +2 more	GPathogenic/Likely pathogenic
Select item 1359208	NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)	IFT172 (E1498K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 944063	NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)	IFT172 (G1470R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +3 more	GUncertain significance
Select item 1598106	NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1444452	NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)	IFT172 (T1451A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GUncertain significance
Select item 1189197	NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)	IFT172 (K1436T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1137643	NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 516971	NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)	IFT172	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +4 more	GBenign/Likely benign
Select item 719104	NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)	IFT172 (V1410L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GLikely benign
Select item 864375	NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)	IFT172 (G1404S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 1557176	NM_015662.3(IFT172):c.4161-16C>T	IFT172	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 1559415	NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)	IFT172	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 724576	NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)	IFT172	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 1146681	NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 723085	NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)	IFT172	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 847728	NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)	IFT172 (I1345T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1671940	NM_015662.3(IFT172):c.4014A>G (p.Val1338=)	IFT172	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 962430	NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)	IFT172 (R1330H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 1111875	NM_015662.3(IFT172):c.3952-19C>T	IFT172	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 1658240	NM_015662.3(IFT172):c.3951+14G>T	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Retinitis pigmentosa 71 +2 more	GBenign/Likely benign
Select item 1591034	NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1560908	NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 1002102	NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)	LOC126806173, IFT172 (G1275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1068458	NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)	IFT172, LOC126806173 (E1265*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 1039422	NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)	LOC126806173, IFT172 (E1258K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1443982	NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)	IFT172, LOC126806173 (Q1256R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 848185	NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)	IFT172, LOC126806173	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1040907	NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)	LOC126806173, IFT172 (D1251V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1353732	NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)	IFT172, LOC126806173 (R1247C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1005045	NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)	LOC126806173, IFT172 (S1243I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1284690	NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)	IFT172, LOC126806173 (E1238A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1571582	NM_015662.3(IFT172):c.3711+17A>G	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 943315	NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)	IFT172, LOC126806173 (N1234H)	Single nucleotide variant (missense variant)	IFT172-related disorder +4 more	GUncertain significance
Select item 837274	NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	IFT172, LOC126806173 (R1225Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +5 more	GConflicting classifications of pathogenicity
Select item 1540807	NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 1040794	NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)	IFT172, LOC126806173 (D1215N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1007667	NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)	IFT172, LOC126806173 (L1211W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1497541	NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)	IFT172, LOC126806173 (R1208P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1476204	NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)	LOC126806173, IFT172 (R1208W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 1628843	NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 71 +2 more	GLikely benign
Select item 843450	NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)	IFT172, LOC126806173 (H1180Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1630084	NM_015662.3(IFT172):c.3530+11C>G	IFT172, LOC126806173	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1010794	NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)	IFT172 (E1155D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 850299	NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)	IFT172 (R1134W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1054331	NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)	IFT172 (N1123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 853137	NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)	IFT172 (V1090M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GConflicting classifications of pathogenicity
Select item 1490330	NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)	IFT172 (G1082R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1415255	NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)	IFT172 (R1066W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 772154	NM_015662.3(IFT172):c.3186G>A (p.Val1062=)	IFT172	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GLikely benign
Select item 1010990	NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)	IFT172 (A1060T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1411653	NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)	IFT172 (E1049A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GUncertain significance
Select item 1496822	NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)	IFT172 (H1010Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1406917	NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)	IFT172 (P1000A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1036265	NM_015662.3(IFT172):c.2976-3C>T	IFT172	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 933834	NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)	IFT172 (G985S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 514020	NM_015662.3(IFT172):c.2949G>A (p.Lys983=)	IFT172	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1471010	NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)	IFT172 (R966T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 1382234	NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)	IFT172 (K959E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 846515	NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)	IFT172 (R953C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 941837	NM_015662.3(IFT172):c.2839A>G (p.Met947Val)	IFT172 (M947V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 938752	NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)	IFT172, LOC126806174 (R940W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 731206	NM_015662.3(IFT172):c.2796G>A (p.Glu932=)	IFT172, LOC126806174	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 1116775	NM_015662.3(IFT172):c.2787+20C>T	LOC126806174, IFT172	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 389686	NM_015662.3(IFT172):c.2787+6G>A	IFT172, LOC126806174	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 446697	NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)	IFT172, LOC126806174 (Y922*)	Duplication (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GPathogenic/Likely pathogenic
Select item 972067	NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)	IFT172, LOC126806174 (Y915C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 847729	NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)	IFT172, LOC126806174 (R908W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1062309	NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)	IFT172, LOC126806174 (A899T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 863878	NM_015662.3(IFT172):c.2681G>A (p.Arg894His)	IFT172, LOC126806174 (R894H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance

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