Full data view for gene DKC1

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-425400_*717287dup - - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 1 c.-142C>G r.(?) p.(=) 5'UTR Parent #1 - pathogenic g.153991099C>G g.154762824C>G - - DKC1_000058 data copied from the Telomerase database PubMed: Dokal 2000 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 11054058-Pat PubMed: Dokal 2000 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.-142C>G r.(?) p.(=) - Unknown - likely benign g.153991099C>G g.154762824C>G - - DKC1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.-141C>G r.(?) p.(=) 5'UTR Parent #1 - pathogenic g.153991100C>G g.154762825C>G - - DKC1_000033 disrupts a canonical Sp1 transcription factor binding site; not in 100 control chromosomes PubMed: Knight 2001 - - Germline yes - - 0 - DNA SEQ - - DKCX;HHS 11379875-PatDCR-035 PubMed: Knight 2001 2-generated family, 2 affected brothers and unaffected carrier mother M no United Kingdom (Great Britain) - - 0 - - 3 Johan den Dunnen
-?/. - c.-19G>C r.(?) p.(=) - Unknown - likely benign g.153991222G>C g.154762947G>C DKC1(NM_001363.3):c.-19G>C - DKC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.5C>T r.(?) p.(Ala2Val) - Parent #1 - pathogenic g.153991245C>T g.154762970C>T - - DKC1_000020 submitted through SIB; ExPASy_010076 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR041 PubMed: Knight 1999 multiplex family - - United Arab Emirates - - 0 - - 1 SIB - Livia Famiglietti
+/. 1i c.16+592C>G r.[16_17ins16+343_16+589,=] p.[Val6Alafs*5,=] - Maternal (confirmed) - pathogenic g.153991848C>G g.154763573C>G r.16_17ins247, 16+343_589 - DKC1_000032 variant not in 80 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DKCX;HHS 11379875-PatDCR-025 PubMed: Knight 2001 2-generation family, affected son and unaffected carrier mother M no United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. 2 c.29C>T r.(?) p.(Pro10Leu) - Parent #1 - pathogenic g.153993186C>T g.154764911C>T - - DKC1_000059 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.85-5C>G r.spl p.? - Parent #1 - pathogenic g.153993714C>G g.154765439C>G - - DKC1_000060 data copied from the Telomerase database PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR055 PubMed: Knight 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 3 c.91C>A r.(?) p.(Gln31Lys) - Parent #1 - pathogenic g.153993725C>A g.154765450C>A - - DKC1_000061 data copied from the Telomerase database PubMed: Kanegane 2005 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 15842668-Pat PubMed: Kanegane 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.91C>G r.(?) p.(Gln31Glu) - Parent #1 - pathogenic g.153993725C>G g.154765450C>G - - DKC1_000062 data copied from the Telomerase database PubMed: Wong 2004 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 15349768-Pat PubMed: Wong 2004 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.103G>A r.(?) p.(Glu35Lys) - Unknown - pathogenic g.153993737G>A g.154765462G>A - - DKC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.106T>G r.(?) p.(Phe36Val) - Parent #1 - pathogenic g.153993740T>G g.154765465T>G - - DKC1_000009 submitted through SIB; ExPASy_006811 PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 3 c.106T>G r.(?) p.(Phe36Val) - Parent #1 - pathogenic g.153993740T>G g.154765465T>G - - DKC1_000009 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.109_111del r.(?) p.(Leu37del) - Parent #1 - pathogenic g.153993743_153993745del g.154765468_154765470del c.109_111delCTT - DKC1_000063 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.113T>C r.(?) p.(Ile38Thr) - Parent #1 - pathogenic g.153993747T>C g.154765472T>C - - DKC1_000023 submitted through SIB; ExPASy_015674 {PMIDCossu 2002:12437656} - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 12437656-Pat {PMIDCossu 2002:12437656} - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 3 c.114C>G r.(?) p.(Ile38Met) - Parent #1 - pathogenic g.153993748C>G g.154765473C>G - - DKC1_000046 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.115A>G r.(?) p.(Lys39Glu) - Parent #1 - pathogenic g.153993749A>G g.154765474A>G - - DKC1_000012 submitted through SIB; ExPASy_010077; de novo in mother PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR008 PubMed: Knight 1999 - F - United Kingdom (Great Britain) - - 0 - - 2 SIB - Livia Famiglietti
+/. 3 c.119C>G r.(?) p.(Pro40Arg) - Parent #1 - pathogenic g.153993753C>G g.154765478C>G - - DKC1_000008 submitted through SIB; ExPASy_006813 PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 3 c.119C>G r.(?) p.(Pro40Arg) - Parent #1 - pathogenic g.153993753C>G g.154765478C>G - - DKC1_000008 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.119C>G r.(?) p.(Pro40Arg) - Unknown - pathogenic g.153993753C>G g.154765478C>G - - DKC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.121G>A r.(?) p.(Glu41Lys) - Parent #1 - pathogenic g.153993755G>A g.154765480G>A - - DKC1_000019 submitted through SIB; ExPASy_010078 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR038 PubMed: Knight 1999 - - - Turkey - - 0 - - 1 SIB - Livia Famiglietti
+/. 3 c.127A>G r.(?) p.(Lys43Glu) - Parent #1 - pathogenic g.153993761A>G g.154765486A>G - - DKC1_000047 data copied from the Telomerase database PubMed: Heiss 2001 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 11491307-Pat PubMed: Heiss 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.128A>G r.(?) p.(Lys43Arg) - Unknown - VUS g.153993762A>G g.154765487A>G DKC1(NM_001288747.1):c.128A>G (p.K43R) - DKC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.145A>T r.(?) p.(Thr49Ser) - Parent #1 - pathogenic g.153993779A>T g.154765504A>T - - DKC1_000048 data copied from the Telomerase database PubMed: Alder 2013 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 21757622-Pat PubMed: Alder 2013 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.146C>T r.(?) p.(Thr49Met) - Parent #1 - pathogenic g.153993780C>T g.154765505C>T - - DKC1_000021 submitted through SIB; ExPASy_015675 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10583221-FamB PubMed: Knight 1999 3-generation family, 3 affected nephews, unaffected carrier mothers M - United Kingdom (Great Britain) - - 0 - - 3 SIB - Livia Famiglietti
+/. - c.146C>T r.(?) p.(Thr49Met) - Unknown - pathogenic g.153993780C>T g.154765505C>T - - DKC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.166_167delinsTC r.(?) p.(Leu56Ser) - Parent #1 - pathogenic g.153993800_153993801delinsTC g.154765525_154765526delinsTC - - DKC1_000001 submitted through SIB; ExPASy_063821; Variant described as NM_001363:c.166_167invCT (Leu56Ser) in PubMed 18802941 PubMed: Kumikova 2009 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 18802941-Pat PubMed: Kumikova 2009 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 4 c.194G>C r.(?) p.(Arg65Thr) - Parent #1 - pathogenic g.153994204G>C g.154765929G>C - - DKC1_000018 submitted through SIB; ExPASy_010079 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR033 PubMed: Knight 1999 - - - Germany - - 0 - - 1 SIB - Livia Famiglietti
?/. 4 c.196A>G r.(?) p.(Thr66Ala) - Both (homozygous) - VUS g.153994206A>G g.154765931A>G - - DKC1_000014 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 4 c.196A>G r.(?) p.(Thr66Ala) - Parent #1 - pathogenic g.153994206A>G g.154765931A>G - - DKC1_000014 submitted through SIB; ExPASy_010080 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamNIMGS515 PubMed: Knight 1999 - - - United States - - 0 - - 1 SIB - Livia Famiglietti
+/. 4 c.196A>G r.(?) p.(Thr66Ala) - Parent #1 - pathogenic g.153994206A>G g.154765931A>G - - DKC1_000014 data copied from the Telomerase database PubMed: Hassock 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Hassock 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.200C>T r.(?) p.(Thr67Ile) - Parent #1 - pathogenic g.153994210C>T g.154765935C>T - - DKC1_000049 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.202C>T r.(?) p.(His68Tyr) - Parent #1 - pathogenic g.153994212C>T g.154765937C>T - - DKC1_000050 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.204C>A r.(?) p.(His68Gln) - Parent #1 - pathogenic g.153994214C>A g.154765939C>A - - DKC1_000051 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.214C>T r.(?) p.(Leu72Phe) - Parent #1 - pathogenic g.153994224C>T g.154765949C>T - - DKC1_000002 submitted through SIB; ExPASy_063822 PubMed: Hamidah 2008 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 17417794-Pat PubMed: Hamidah 2008 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 4 c.214_215delinsTA r.(?) p.(Leu72Tyr) - Parent #1 - pathogenic g.153994224_153994225delinsTA g.154765949_154765950delinsTA - - DKC1_000010 submitted through SIB; ExPASy_006814 PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 4 c.214_215delinsTA r.(?) p.(Leu72Tyr) - Parent #1 - pathogenic g.153994224_153994225delinsTA g.154765949_154765950delinsTA c.214_215CT>TA - DKC1_000010 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.227C>T r.(?) p.(Ser76Leu) - Parent #1 - pathogenic g.153994237C>T g.154765962C>T - - DKC1_000052 data copied from the Telomerase database PubMed: Vulliamy 2011 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 4i c.264-22del r.(?) p.(=) - Unknown - likely benign g.153994469del g.154766194del - - DKC1_000027 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.264-10T>C r.(=) p.(=) - Unknown - likely benign g.153994481T>C g.154766206T>C DKC1(NM_001363.3):c.264-10T>C - DKC1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.264-9C>T r.(=) p.(=) - Unknown - likely benign g.153994482C>T g.154766207C>T DKC1(NM_001288747.1):c.264-9C>T - DKC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264-8C>T r.(=) p.(=) - Unknown - likely benign g.153994483C>T g.154766208C>T DKC1(NM_001142463.1):c.264-8C>T (p.(=)) - DKC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264-7A>T r.(=) p.(=) - Unknown - likely benign g.153994484A>T g.154766209A>T DKC1(NM_001142463.1):c.264-7A>T (p.(=)) - DKC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354A>C r.(?) p.(Thr118=) - Unknown - likely benign g.153994581A>C g.154766306A>C DKC1(NM_001288747.1):c.354A>C (p.T118=) - DKC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.361A>G r.(?) p.(Ser121Gly) TruB Parent #1 - pathogenic g.153994588A>G g.154766313A>G - - DKC1_000022 submitted through SIB; ExPASy_015676 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10583221-FamA PubMed: Knight 1999 2-generation family, 2 affected brothers, unaffected carrier mother M - United Kingdom (Great Britain) - - 0 - - 2 SIB - Livia Famiglietti
+/. - c.361A>G r.(?) p.(Ser121Gly) - Unknown - pathogenic g.153994588A>G g.154766313A>G - - DKC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369= r.(=) p.(Thr123=) - Unknown - benign g.153994596G>T g.154766321G>T DKC1(NM_001363.3):c.369G>T (p.T123=) - DKC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.369G>T r.(?) p.(=) - Maternal (inferred) - VUS g.153994596G>T - - - DKC1_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 5 c.369G>T r.(?) p.(=) - Maternal (inferred) - VUS g.153994596G>T - - - DKC1_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 6 c.472C>T r.(?) p.(Arg158Trp) TruB Parent #1 - pathogenic g.153995295C>T g.154767020C>T - - DKC1_000034 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 11379875-PatDCR-017 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.491A>T r.(?) p.(Glu164Val) - Unknown - VUS g.153995314A>T g.154767039A>T DKC1(NM_001288747.1):c.491A>T (p.E164V) - DKC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493G>A r.(?) p.(Gly165Arg) - Unknown - VUS g.153995316G>A g.154767041G>A DKC1(NM_001142463.1):c.493G>A (p.(Gly165Arg)) - DKC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.497G>T r.(?) p.(Gly166Val) - Unknown - likely benign g.153995320G>T g.154767045G>T - - DKC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641-238A>T r.(=) p.(=) - Maternal (inferred) - VUS g.153996339A>T g.154768064A>T - - DKC1_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.641-238A>T r.(=) p.(=) - Maternal (inferred) - VUS g.153996339A>T g.154768064A>T - - DKC1_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.641-163C>T r.(=) p.(=) - Maternal (inferred) - VUS g.153996414C>T g.154768139C>T - - DKC1_000026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.641-163C>T r.(=) p.(=) - Maternal (inferred) - VUS g.153996414C>T g.154768139C>T - - DKC1_000026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.772-319G>A r.(=) p.(=) - Maternal (inferred) - VUS g.153997123G>A g.154768848G>A - - DKC1_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.772-319G>A r.(=) p.(=) - Maternal (inferred) - VUS g.153997123G>A g.154768848G>A - - DKC1_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 8i c.772-151_772-148del r.(?) p.(=) - Unknown - likely benign g.153997291_153997294del g.154769016_154769019del - - DKC1_000029 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 8i c.772-147del r.(?) p.(=) - Unknown - likely benign g.153997295del g.154769020del - - DKC1_000030 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.776A>C r.(?) p.(His259Pro) - Unknown - likely benign g.153997446A>C g.154769171A>C DKC1(NM_001288747.1):c.776A>C (p.H259P), DKC1(NM_001363.3):c.776A>C (p.H259P) - DKC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.776A>C r.(?) p.(His259Pro) - Unknown - benign g.153997446A>C g.154769171A>C DKC1(NM_001288747.1):c.776A>C (p.H259P), DKC1(NM_001363.3):c.776A>C (p.H259P) - DKC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.838A>C r.(?) p.(Ser280Arg) - Parent #1 - pathogenic g.153997508A>C g.154769233A>C - - DKC1_000035 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 11379875-PatDCR-071 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.838A>C r.(?) p.(Ser280Arg) - Unknown - VUS g.153997508A>C g.154769233A>C DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001363.3):c.838A>C (p.S280R) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.838A>C r.(?) p.(Ser280Arg) - Unknown - VUS g.153997508A>C g.154769233A>C DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001363.3):c.838A>C (p.S280R) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.838A>C r.(?) p.(Ser280Arg) - Unknown - VUS g.153997508A>C g.154769233A>C DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001363.3):c.838A>C (p.S280R) - DKC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.888T>C r.(?) p.(His296=) - Unknown - likely benign g.153997558T>C g.154769283T>C DKC1(NM_001363.3):c.888T>C (p.H296=) - DKC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.911G>A r.(?) p.(Ser304Asn) PUA Parent #1 - pathogenic g.153997581G>A g.154769306G>A - - DKC1_000053 data copied from the Telomerase database PubMed: Du 2009 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 18931339-Pat PubMed: Du 2009 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.915+8C>T r.(=) p.(=) - Unknown - likely benign g.153997593C>T g.154769318C>T DKC1(NM_001288747.1):c.915+8C>T - DKC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.941A>G r.(?) p.(Lys314Arg) PUA Parent #1 - pathogenic g.153999059A>G g.154770784A>G - - DKC1_000054 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.949C>G r.(?) p.(Leu317Val) PUA Parent #1 - pathogenic g.153999067C>G g.154770792C>G - - DKC1_000055 data copied from the Telomerase database PubMed: Du 2009 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 18931339-Pat PubMed: Du 2009 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.949C>T r.(?) p.(Leu317Phe) - Parent #1 - pathogenic g.153999067C>T g.154770792C>T - - DKC1_000006 submitted through SIB; ExPASy_063823 PubMed: Rostamiani 2010 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 19879169-Pat PubMed: Rostamiani 2010 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 10 c.949C>T r.(?) p.(Leu317Phe) PUA Parent #1 - pathogenic g.153999067C>T g.154770792C>T - - DKC1_000006 data copied from the Telomerase database PubMed: Marrone 2003 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.961C>G r.(?) p.(Leu321Val) PUA Parent #1 - pathogenic g.153999079C>G g.154770804C>G - - DKC1_000013 submitted through SIB; ExPASy_010081; de novo in grandparents PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR009 PubMed: Knight 1999 - - - Italy - - 0 - - 2 SIB - Livia Famiglietti
+/. 10 c.965G>A r.(?) p.(Arg322Gln) - Parent #1 - pathogenic g.153999083G>A g.154770808G>A - - DKC1_000007 submitted through SIB; ExPASy_063824 PubMed: Rostamiani 2010 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 19879169-Pat PubMed: Rostamiani 2010 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 10 c.965G>A r.(?) p.(Arg322Gln) PUA Parent #1 - pathogenic g.153999083G>A g.154770808G>A - - DKC1_000007 data copied from the Telomerase database PubMed: Marrone 2003 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1049T>C r.(?) p.(Met350Thr) PUA Parent #1 - pathogenic g.154001418T>C g.154773143T>C - - DKC1_000017 submitted through SIB; ExPASy_010083 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR031 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1049T>C r.(?) p.(Met350Thr) - Parent #1 - pathogenic g.154001418T>C g.154773143T>C - - DKC1_000017 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-091 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1050G>A r.(?) p.(Met350Ile) PUA Parent #1 - pathogenic g.154001419G>A g.154773144G>A - - DKC1_000015 submitted through SIB; ExPASy_010082 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR021 PubMed: Knight 1999 - - - Austria - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Ding 2004 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 15304085-Pat PubMed: Ding 2004 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1058C>T r.(?) p.(Ala353Val) PUA Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR004 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-035 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-062 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-065 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-066 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR005 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR006 PubMed: Knight 1999 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR020 PubMed: Knight 1999 - - - France - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR029 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR030 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR044 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR046 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR051 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR055 PubMed: Knight 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 de novo in grand parents PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR056 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1058C>T r.(?) p.(Ala353Val) - Unknown - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1069A>G r.(?) p.(Thr357Ala) PUA Parent #1 - pathogenic g.154001438A>G g.154773163A>G - - DKC1_000056 data copied from the Telomerase database PubMed: Kanegane 2005 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 15842668-Pat PubMed: Kanegane 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1075G>A r.(?) p.(Asp359Asn) PUA Parent #1 - pathogenic g.154001444G>A g.154773169G>A - - DKC1_000057 data copied from the Telomerase database PubMed: Vulliamy 2006 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - 1 Johan den Dunnen
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