All transcript variants in gene DKC1

Information The variants shown are described using the NM_001363.3 transcript reference sequence.

140 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-425400_*717287dup - - - - g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-142C>G - r.(?) p.(=) 5'UTR g.153991099C>G - - - DKC1_000058 data copied from the Telomerase database PubMed: Dokal 2000 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-142C>G likely benign r.(?) p.(=) - g.153991099C>G - DKC1(NM_001363.4):c.-142C>G - DKC1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.-141C>G - r.(?) p.(=) 5'UTR g.153991100C>G - - - DKC1_000033 disrupts a canonical Sp1 transcription factor binding site; not in 100 control chromosomes PubMed: Knight 2001 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.-19G>C likely benign r.(?) p.(=) - g.153991222G>C - DKC1(NM_001363.3):c.-19G>C - DKC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1 c.5C>T - r.(?) p.(Ala2Val) - g.153991245C>T - - - DKC1_000020 submitted through SIB; ExPASy_010076 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 1i c.16+592C>G - r.[16_17ins16+343_16+589,=] p.[Val6Alafs*5,=] - g.153991848C>G - r.16_17ins247, 16+343_589 - DKC1_000032 variant not in 80 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.29C>T - r.(?) p.(Pro10Leu) - g.153993186C>T - - - DKC1_000059 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.85-5C>G - r.spl p.? - g.153993714C>G - - - DKC1_000060 data copied from the Telomerase database PubMed: Knight 1999 - - De novo - - - 0 - Johan den Dunnen
+/. 3 c.91C>A - r.(?) p.(Gln31Lys) - g.153993725C>A - - - DKC1_000061 data copied from the Telomerase database PubMed: Kanegane 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.91C>G - r.(?) p.(Gln31Glu) - g.153993725C>G - - - DKC1_000062 data copied from the Telomerase database PubMed: Wong 2004 - - Germline - - - 0 - Johan den Dunnen
+/. - c.103G>A pathogenic r.(?) p.(Glu35Lys) - g.153993737G>A - DKC1(NM_001363.3):c.103G>A (p.Glu35Lys) - DKC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.106T>G - r.(?) p.(Phe36Val) - g.153993740T>G - - - DKC1_000009 submitted through SIB; ExPASy_006811 PubMed: Heiss 1998 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 3 c.106T>G - r.(?) p.(Phe36Val) - g.153993740T>G - - - DKC1_000009 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.109_111del - r.(?) p.(Leu37del) - g.153993743_153993745del - c.109_111delCTT - DKC1_000063 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.113T>C - r.(?) p.(Ile38Thr) - g.153993747T>C - - - DKC1_000023 submitted through SIB; ExPASy_015674 {PMIDCossu 2002:12437656} - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 3 c.114C>G - r.(?) p.(Ile38Met) - g.153993748C>G - - - DKC1_000046 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.115A>G - r.(?) p.(Lys39Glu) - g.153993749A>G - - - DKC1_000012 submitted through SIB; ExPASy_010077; de novo in mother PubMed: Knight 1999 - - De novo - - - 0 - SIB - Livia Famiglietti
+/. 3 c.119C>G - r.(?) p.(Pro40Arg) - g.153993753C>G - - - DKC1_000008 submitted through SIB; ExPASy_006813 PubMed: Heiss 1998 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 3 c.119C>G - r.(?) p.(Pro40Arg) - g.153993753C>G - - - DKC1_000008 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - Johan den Dunnen
+/. - c.119C>G pathogenic r.(?) p.(Pro40Arg) - g.153993753C>G - DKC1(NM_001363.3):c.119C>G (p.Pro40Arg) - DKC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.121G>A - r.(?) p.(Glu41Lys) - g.153993755G>A - - - DKC1_000019 submitted through SIB; ExPASy_010078 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 3 c.127A>G - r.(?) p.(Lys43Glu) - g.153993761A>G - - - DKC1_000047 data copied from the Telomerase database PubMed: Heiss 2001 - - Germline - - - 0 - Johan den Dunnen
?/. - c.128A>G VUS r.(?) p.(Lys43Arg) - g.153993762A>G - DKC1(NM_001288747.1):c.128A>G (p.K43R) - DKC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 c.145A>T - r.(?) p.(Thr49Ser) - g.153993779A>T - - - DKC1_000048 data copied from the Telomerase database PubMed: Alder 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.146C>T - r.(?) p.(Thr49Met) - g.153993780C>T - - - DKC1_000021 submitted through SIB; ExPASy_015675 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. - c.146C>T pathogenic r.(?) p.(Thr49Met) - g.153993780C>T - DKC1(NM_001363.4):c.146C>T (p.Thr49Met) - DKC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 3 c.166_167delinsTC - r.(?) p.(Leu56Ser) - g.153993800_153993801delinsTC - - - DKC1_000001 submitted through SIB; ExPASy_063821; Variant described as NM_001363:c.166_167invCT (Leu56Ser) in PubMed 18802941 PubMed: Kumikova 2009 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 4 c.194G>C - r.(?) p.(Arg65Thr) - g.153994204G>C - - - DKC1_000018 submitted through SIB; ExPASy_010079 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
?/. 4 c.196A>G - r.(?) p.(Thr66Ala) - g.153994206A>G - - - DKC1_000014 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
+/. 4 c.196A>G - r.(?) p.(Thr66Ala) - g.153994206A>G - - - DKC1_000014 submitted through SIB; ExPASy_010080 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 4 c.196A>G - r.(?) p.(Thr66Ala) - g.153994206A>G - - - DKC1_000014 data copied from the Telomerase database PubMed: Hassock 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.200C>T - r.(?) p.(Thr67Ile) - g.153994210C>T - - - DKC1_000049 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.202C>T - r.(?) p.(His68Tyr) - g.153994212C>T - - - DKC1_000050 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.204C>A - r.(?) p.(His68Gln) - g.153994214C>A - - - DKC1_000051 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.214C>T - r.(?) p.(Leu72Phe) - g.153994224C>T - - - DKC1_000002 submitted through SIB; ExPASy_063822 PubMed: Hamidah 2008 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 4 c.214_215delinsTA - r.(?) p.(Leu72Tyr) - g.153994224_153994225delinsTA - - - DKC1_000010 submitted through SIB; ExPASy_006814 PubMed: Heiss 1998 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 4 c.214_215delinsTA - r.(?) p.(Leu72Tyr) - g.153994224_153994225delinsTA - c.214_215CT>TA - DKC1_000010 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.227C>T - r.(?) p.(Ser76Leu) - g.153994237C>T - - - DKC1_000052 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - Johan den Dunnen
-?/. 4i c.264-22del - r.(?) p.(=) - g.153994469del - - - DKC1_000027 - - - - Germline - - - 0 - Yu Sun
-?/. - c.264-10T>C likely benign r.(=) p.(=) - g.153994481T>C - DKC1(NM_001363.3):c.264-10T>C - DKC1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.264-9C>T likely benign r.(=) p.(=) - g.153994482C>T - DKC1(NM_001288747.1):c.264-9C>T - DKC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.264-8C>T likely benign r.(=) p.(=) - g.153994483C>T - DKC1(NM_001142463.1):c.264-8C>T (p.(=)) - DKC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.264-7A>T likely benign r.(=) p.(=) - g.153994484A>T - DKC1(NM_001142463.1):c.264-7A>T (p.(=)) - DKC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.354A>C likely benign r.(?) p.(=) - g.153994581A>C - DKC1(NM_001288747.1):c.354A>C (p.T118=) - DKC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 5 c.361A>G - r.(?) p.(Ser121Gly) TruB g.153994588A>G - - - DKC1_000022 submitted through SIB; ExPASy_015676 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. - c.361A>G pathogenic r.(?) p.(Ser121Gly) - g.153994588A>G - DKC1(NM_001363.4):c.361A>G (p.Ser121Gly) - DKC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 5 c.369G>T - r.(?) p.(=) - g.153994596G>T - - - DKC1_000004 - - - - Germline - - - 0 - Yu Sun
?/. 5 c.369G>T - r.(?) p.(=) - g.153994596G>T - - - DKC1_000004 - - - - Germline - - - 0 - Yu Sun
-/. - c.369G>T benign r.(?) p.(=) - g.153994596G>T - DKC1(NM_001363.3):c.369G>T (p.T123=) - DKC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 6 c.472C>T - r.(?) p.(Arg158Trp) TruB g.153995295C>T - - - DKC1_000034 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
?/. - c.493G>A VUS r.(?) p.(Gly165Arg) - g.153995316G>A - DKC1(NM_001142463.1):c.493G>A (p.(Gly165Arg)) - DKC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.497G>T likely benign r.(?) p.(Gly166Val) - g.153995320G>T - DKC1(NM_001363.4):c.497G>T (p.(Gly166Val)) - DKC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.641-238A>T - - p.(=) - g.153996339A>T - - - DKC1_000025 - - - - Germline - - - - - Yu Sun
?/. - c.641-238A>T - - p.(=) - g.153996339A>T - - - DKC1_000025 - - - - Germline - - - - - Yu Sun
?/. - c.641-163C>T - - p.(=) - g.153996414C>T - - - DKC1_000026 - - - - Germline - - - - - Yu Sun
?/. - c.641-163C>T - - p.(=) - g.153996414C>T - - - DKC1_000026 - - - - Germline - - - - - Yu Sun
?/. - c.772-319G>A - - p.(=) - g.153997123G>A - - - DKC1_000028 - - - - Germline - - - - - Yu Sun
?/. - c.772-319G>A - - p.(=) - g.153997123G>A - - - DKC1_000028 - - - - Germline - - - - - Yu Sun
-?/. 8i c.772-151_772-148del - r.(?) p.(=) - g.153997291_153997294del - - - DKC1_000029 - - - - Germline - - - 0 - Yu Sun
-?/. 8i c.772-147del - r.(?) p.(=) - g.153997295del - - - DKC1_000030 - - - - Germline - - - 0 - Yu Sun
-?/. - c.776A>C likely benign r.(?) p.(His259Pro) - g.153997446A>C - DKC1(NM_001363.3):c.776A>C (p.H259P) - DKC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.776A>C benign r.(?) p.(His259Pro) - g.153997446A>C - DKC1(NM_001363.3):c.776A>C (p.H259P) - DKC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9 c.838A>C - r.(?) p.(Ser280Arg) - g.153997508A>C - - - DKC1_000035 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.838A>C likely pathogenic r.(?) p.(Ser280Arg) - g.153997508A>C - DKC1(NM_001363.4):c.838A>C (p.Ser280Arg) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.838A>C VUS r.(?) p.(Ser280Arg) - g.153997508A>C - DKC1(NM_001363.4):c.838A>C (p.Ser280Arg) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.838A>C VUS r.(?) p.(Ser280Arg) - g.153997508A>C - DKC1(NM_001363.4):c.838A>C (p.Ser280Arg) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.888T>C likely benign r.(?) p.(=) - g.153997558T>C - DKC1(NM_001363.3):c.888T>C (p.H296=) - DKC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 9 c.911G>A - r.(?) p.(Ser304Asn) PUA g.153997581G>A - - - DKC1_000053 data copied from the Telomerase database PubMed: Du 2009 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.915+8C>T likely benign r.(=) p.(=) - g.153997593C>T - DKC1(NM_001142463.1):c.915+8C>T (p.(=)) - DKC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.915+8C>T likely benign r.(=) p.(=) - g.153997593C>T - DKC1(NM_001142463.1):c.915+8C>T (p.(=)) - DKC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 10 c.941A>G - r.(?) p.(Lys314Arg) PUA g.153999059A>G - - - DKC1_000054 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.949C>G - r.(?) p.(Leu317Val) PUA g.153999067C>G - - - DKC1_000055 data copied from the Telomerase database PubMed: Du 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.949C>T - r.(?) p.(Leu317Phe) - g.153999067C>T - - - DKC1_000006 submitted through SIB; ExPASy_063823 PubMed: Rostamiani 2010 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 10 c.949C>T - r.(?) p.(Leu317Phe) PUA g.153999067C>T - - - DKC1_000006 data copied from the Telomerase database PubMed: Marrone 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.961C>G - r.(?) p.(Leu321Val) PUA g.153999079C>G - - - DKC1_000013 submitted through SIB; ExPASy_010081; de novo in grandparents PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 10 c.965G>A - r.(?) p.(Arg322Gln) - g.153999083G>A - - - DKC1_000007 submitted through SIB; ExPASy_063824 PubMed: Rostamiani 2010 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 10 c.965G>A - r.(?) p.(Arg322Gln) PUA g.153999083G>A - - - DKC1_000007 data copied from the Telomerase database PubMed: Marrone 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1049T>C - r.(?) p.(Met350Thr) PUA g.154001418T>C - - - DKC1_000017 submitted through SIB; ExPASy_010083 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 11 c.1049T>C - r.(?) p.(Met350Thr) - g.154001418T>C - - - DKC1_000017 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1050G>A - r.(?) p.(Met350Ile) PUA g.154001419G>A - - - DKC1_000015 submitted through SIB; ExPASy_010082 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Ding 2004 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) PUA g.154001427C>T - - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - Johan den Dunnen
+/. 11 c.1058C>T - r.(?) p.(Ala353Val) - g.154001427C>T - - - DKC1_000003 de novo in grand parents PubMed: Knight 1999 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1058C>T pathogenic r.(?) p.(Ala353Val) - g.154001427C>T - DKC1(NM_001363.3):c.1058C>T (p.Ala353Val) - DKC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 11 c.1069A>G - r.(?) p.(Thr357Ala) PUA g.154001438A>G - - - DKC1_000056 data copied from the Telomerase database PubMed: Kanegane 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1075G>A - r.(?) p.(Asp359Asn) PUA g.154001444G>A - - - DKC1_000057 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - Johan den Dunnen
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