Unique variants in the F8 gene

Information The variants shown are described using the NM_000132.3 transcript reference sequence.

2613 entries on 27 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 13i c.(2114-4391_2114-4289)= r.(?) p.(=) - benign g.(154164240_154164342)= g.(154935965_154936067)= (CA)21 - F8_002605 - PubMed: Lalloz et al., 1991 - - Germline - 47/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)del(2) r.(?) p.(=) - benign g.(154164240_154164342)del(2) g.(154935965_154936067)del(2) (CA)20 - F8_002606 - PubMed: Lalloz et al., 1991 - - Germline - 71/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)del(4) r.(?) p.(=) - benign g.(154164240_154164342)del(4) g.(154935965_154936067)del(4) (CA)19 - F8_002607 - PubMed: Lalloz et al., 1991 - - Germline - 12/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)del(6) r.(?) p.(=) - benign g.(154164240_154164342)del(6) g.(154935965_154936067)del(6) (CA)18 - F8_002608 - PubMed: Lalloz et al., 1991 - - Germline - 1/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)ins(2) r.(?) p.(=) - benign g.(154164240_154164342)ins(2) g.(154935965_154936067)ins(2) (CA)22 - F8_002604 - PubMed: Lalloz et al., 1991 - - Germline - 17/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)ins(4) r.(?) p.(=) - benign g.(154164240_154164342)ins(4) g.(154935965_154936067)ins(4) (CA)23 - F8_002603 - PubMed: Lalloz et al., 1991 - - Germline - 8/159 chromosomes - - - Johan den Dunnen
-/. 1 13i c.(2114-4391_2114-4289)ins(6) r.(?) p.(=) - benign g.(154164240_154164342)ins(6) g.(154935965_154936067)ins(6) (CA)24 - F8_002602 - PubMed: Lalloz et al., 1991 - - Germline - 2/159 chromosomes - - - Johan den Dunnen
./. 1 - c.-471602_*500031dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 22i c.-253263_6429+7739inv r.6430_*1809delinsNC_000023.10:g.(154504612_?) p.Val2144_2351Tyrdelins? - pathogenic g.154116613_154504090inv 1 more item - - F8_001968 only 1 inversion breakpoint sequenced PubMed: Naylor 1996 - - Germline - - - - - Johan den Dunnen
+/+? 2 1 c.-905G>C r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154251732C>G g.155023457C>G - - F8_001198 - PubMed: Klopp et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 - c.-860A>G r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154251687T>C g.155023412T>C - - F8_000052 - PubMed: Sanna et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 - c.-257T>G r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 9 - c.-219C>T r.(=) p.(=) EAHAD-CFDB unclassified, likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Bogdanova et al., 2007, PubMed: Dai et al., 2008, 1 more item - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 _1 c.-219del r.(=) p.(=) EAHAD-CFDB unclassified g.154251047del g.155022772del c.-219delC - F8_002599 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.-135_-134ins(?) r.? p.? EAHAD-CFDB unclassified g.154250961_154250962ins(?) - - - F8_002598 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-112G>A r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154250939C>T g.155022664C>T - - F8_000035 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-42C>T r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154250869G>A g.155022594G>A - - F8_000034 1 more item PubMed: Lombardi et al., 2004 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 _12i c.(?_-36)_(1903+1_1904-1)del r.? p.? - - g.(154176183_154182166)_(154250863_?)del - - - F8_001865 - PubMed: Lannoy et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 41 _1i c.(?_-1)_(143+1_144-1)del r.? p.? EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017, PubMed: Rossetti et al., 2007, PubMed: Vinciguerra et al., 2006, 14 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 2 _2i c.(?_-1)_(265+1_266-1)del r.? p.? EAHAD-CFDB unclassified g.(154225371_154227753)_(154250828_?)del - - - F8_001866 - PubMed: Johnsen et al., 2017, PubMed: Santacroce et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 _3i c.(?_-1)_(388+1_389-1)del r.? p.? - - g.(154221424_154225247)_(154250828_?)del - - - F8_001863 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 3 _5i c.(?_-1)_(670+1_671-1)del r.? p.? - - g.(154213079_154215511)_(154250828_?)del - - - F8_001862 - PubMed: Jayandharan et al., 2005, PubMed: Acquila et al., 2008, PubMed: Higuchi et al., 1989 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 _5i c.(?_-1)_(670+1_671-1)dup r.? p.? - - g.(154213079_154215511)_(154250828_?)dup - - - F8_001952 - PubMed: Rost et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 9 _6i c.(?_-1)_(787+1_788-1)del r.? p.? EAHAD-CFDB unclassified g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Johnsen et al., 2017, PubMed: Coppola et al., 2009, Unpublished, PubMed: Green et al., 2008, 4 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 2 _7i c.(?_-1)_(1009+1_1010-1)del r.? p.? - - g.(154194963_154197605)_(154250828_?)del - - - F8_001864 - PubMed: Casaña et al., 2008, PubMed: Ljung & Sjörin, 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 _8i c.(?_-1)_(1271+1_1272-1)del r.? p.? - - g.(154194417_154194700)_(154250828_?)del - - - F8_001867 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 2 _13i c.(?_-1)_(2113+1_2114-1)del r.? p.? EAHAD-CFDB unclassified g.(154159952_154175972)_(154250828_?)del - - - F8_002387 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
./. 1 _14i c.(?_-1)_(5219+1_5220-1)del r.? p.? - - g.(154134849_154156845)_(154250828_?)del - - - F8_001868 - PubMed: Citron et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 3 _22i c.(?_-1)_(6429+1_6430-1)del r.? p.? - - g.(154091503_154124351)_(154250828_?)del - - - F8_001869 - Unpublished, PubMed: Ma et al., 2008, PubMed: Venceslá et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 _25i c.(?_-1)_(6900+1_6901-1)del r.? p.? - - g.(154066028_154088706)_(154250828_?)del - - - F8_001870 - PubMed: Pavlova et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 4 _1_26_ c.(?_-1)_(*1_?)del r.? p.? - - g.(?_154065871)_(154250828_?)del - - - F8_001871 - Unpublished, PubMed: Casula et al., 1990, PubMed: Ma et al., 2008, PubMed: Windsor et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
-/. 1 13i c.(2114-4391_2114-4289)del(10) r.(?) p.(=) - benign g.(154164240_154164342)del(10) g.(154935965_154936067)del(10) (CA)16 - F8_001966 - PubMed: Lalloz et al., 1991 - - Germline - - - - - Geoffrey Kemball-Cook
./. 1 14 c.(2114_5219)insN[41] r.? p.? - - g.(154156846_154159951)[ins41] - - - F8_001962 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 18 c.(5816_5998)insN[180] r.? p.? - - g.(154132181_154132363)[ins180] - - - F8_001964 - PubMed: Casaña et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 25 c.(6724_6900)delins r.? p.? - - g.(154088707_154088883)delins - - - F8_001959 - PubMed: Citron et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 22i c.6430-12561_6430-12517[ins2_12] r.? p.? - - g.154104012_154104063[ins2_12] - GTnAGn repeat - F8_001967 - PubMed: Lalloz et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.1A>G r.(?) p.(Met1?) EAHAD-CFDB unclassified, likely pathogenic g.154250827T>C g.155022552T>C - - F8_000033 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Abdul-Ghafar et al., 2010 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.2T>C r.2u>c p.(Met1?) EAHAD-CFDB likely pathogenic g.154250826A>G g.155022551A>G - - F8_000031 - PubMed: Green et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.2T>G r.(?) p.(Met1?) EAHAD-CFDB likely pathogenic g.154250826A>C g.155022551A>C - - F8_000032 - PubMed: Santagostino et al., 2010, PubMed: Sukarova-Stefanovska et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.3G>A r.(?) p.(Met1?) EAHAD-CFDB likely pathogenic g.154250825C>T g.155022550C>T - - F8_000030 - PubMed: Jayandharan et al., 2009, Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.38T>C r.(?) p.(Leu13Pro) EAHAD-CFDB unclassified g.154250790A>G g.155022515A>G - - F8_002597 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 18 1 c.43C>T r.(?), r.43c>u p.(Arg15*), p.Arg15* EAHAD-CFDB unclassified, likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Akkarapatumwong et al., 2000a, PubMed: Bidichandani et al., 1995, 9 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.57T>G r.57u>g, r.(?) p.Ser19Arg, p.(Ser19Arg) EAHAD-CFDB likely pathogenic g.154250771A>C g.155022496A>C - - F8_000050 - PubMed: Green et al., 2008, PubMed: Strmecki et al., 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.65G>C r.(?) p.(Arg22Thr) EAHAD-CFDB likely pathogenic g.154250763C>G g.155022488C>G - - F8_000048 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.65G>T r.(?) p.(Arg22Ile) EAHAD-CFDB likely pathogenic g.154250763C>A g.155022488C>A - - F8_000049 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.67A>G r.(?) p.(Arg23Gly) EAHAD-CFDB likely pathogenic g.154250761T>C g.155022486T>C - - F8_000047 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 16 1 c.71A>G r.(?), r.71a>g p.(Tyr24Cys), p.Tyr24Cys EAHAD-CFDB likely pathogenic g.154250757T>C g.155022482T>C - - F8_000046 - PubMed: Cutler et al., 2002, PubMed: Green et al., 2008, Unpublished, PubMed: Waseem et al., 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.72C>G r.(?) p.(Tyr24*) EAHAD-CFDB unclassified g.154250756G>C g.155022481G>C - - F8_002596 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.73del r.(?) p.(Tyr25Thrfs*47) EAHAD-CFDB likely pathogenic g.154250755del g.155022480del c.73delT - F8_000045 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.74A>G r.(?) p.(Tyr25Cys) EAHAD-CFDB likely pathogenic g.154250754T>C g.155022479T>C - - F8_000044 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.77T>C r.(?) p.(Leu26Pro) EAHAD-CFDB likely pathogenic g.154250751A>G g.155022476A>G - - F8_001197 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.77T>G r.(?), r.77u>g p.(Leu26Arg), p.Leu26Arg EAHAD-CFDB unclassified, likely pathogenic g.154250751A>C g.155022476A>C - - F8_000043 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Becker et al., 1996, PubMed: Habart et al., 2003, 1 more item - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.80G>A r.(?) p.(Gly27Asp) EAHAD-CFDB unclassified g.154250748C>T g.155022473C>T - - F8_002595 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.86T>G r.(?) p.(Val29Gly) EAHAD-CFDB likely pathogenic g.154250742A>C g.155022467A>C - - F8_000042 - PubMed: Bogdanova et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.88G>A r.(?) p.(Glu30Lys) EAHAD-CFDB unclassified, likely pathogenic g.154250740C>T g.155022465C>T - - F8_000028 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Markoff et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.89A>T r.(?) p.(Glu30Val) EAHAD-CFDB likely pathogenic g.154250739T>A g.155022464T>A - - F8_000027 - PubMed: Diamond et al., 1992 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.92T>C r.(?) p.(Leu31Pro) EAHAD-CFDB unclassified g.154250736A>G g.155022461A>G - - F8_002594 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+?/. 2 1 c.96_107del r.(?) p.(Trp33_Met36del) EAHAD-CFDB unclassified g.154250721_154250732del g.155022446_155022457del - - F8_002592 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.97T>G r.97u>g p.Trp33Gly EAHAD-CFDB likely pathogenic g.154250731A>C g.155022456A>C - - F8_000026 - PubMed: Tavassoli et al., 1997 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.98G>A r.(?) p.(Trp33*) EAHAD-CFDB likely pathogenic g.154250730C>T g.155022455C>T - - F8_000025 - PubMed: Bicocchi et al., 2003 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.99_143+41del r.spl? p.? EAHAD-CFDB likely pathogenic g.154250646_154250731del g.155022371_155022456del - - F8_001195 - PubMed: Figueiredo et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1 c.101A>T r.(?) p.(Asp34Val) EAHAD-CFDB unclassified g.154250727T>A g.155022452T>A - - F8_002593 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+?, -?/. 3 1 c.102C>T r.(=), r.(?) p.(=), p.(Asp34=) EAHAD-CFDB likely pathogenic, likely benign g.154250726G>A g.155022451G>A F8(NM_000132.3):c.102C>T (p.D34=) - F8_001196 VKGL data sharing initiative Nederland PubMed: Higuchi et al., 1990, PubMed: Tarpey et al., 2009 - - Unknown, Germline, CLASSIFICATION record ? - - - - Geoffrey Kemball-Cook, VKGL-NL_Rotterdam
+/+? 2 1 c.103T>C r.(?) p.(Tyr35His) EAHAD-CFDB likely pathogenic g.154250725A>G g.155022450A>G - - F8_000024 - Unpublished, PubMed: Tagariello et al., 2000 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1 c.104A>G r.(?) p.(Tyr35Cys) EAHAD-CFDB likely pathogenic g.154250724T>C g.155022449T>C - - F8_000023 - PubMed: Djambas Khayat et al., 2008, PubMed: Valleix et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1 c.118del r.(?) p.(Leu40Serfs*32) EAHAD-CFDB likely pathogenic g.154250710del g.155022435del c.118delC - F8_000022 - PubMed: Astermark et al., 2005, Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.120del r.(?) p.(Gly41Valfs*31) EAHAD-CFDB likely pathogenic g.154250708del g.155022433del c.120delC - F8_000021 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1 c.121G>T r.(?) p.(Gly41Cys) EAHAD-CFDB likely pathogenic g.154250707C>A g.155022432C>A - - F8_000020 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.128dup r.(?) p.(Pro44Alafs*9) EAHAD-CFDB likely pathogenic g.154250700dup g.155022425dup c.128dupT - F8_000019 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.143G>A r.(?) p.(Arg48Lys) EAHAD-CFDB unclassified, likely pathogenic g.154250685C>T g.155022410C>T - - F8_000018 no functional analysis result PubMed: Johnsen et al., 2017, PubMed: Becker et al., 1996 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.143+1G>A r.spl? p.? EAHAD-CFDB likely pathogenic g.154250684C>T g.155022409C>T - - F8_000017 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.143+2T>C r.spl? p.? EAHAD-CFDB likely pathogenic g.154250683A>G g.155022408A>G - - F8_000016 - PubMed: Casaña et al., 2004 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 2i c.143+8C>T r.(=) p.(=) EAHAD-CFDB unclassified g.154250677G>A g.155022402G>A - - F8_002591 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.143+1300A>G r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154249385T>C g.155021110T>C - - F8_000015 - De Brasi et al (conference abstract) - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1i c.143+1567A>G r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154249118T>C g.155020843T>C - - F8_000014 - PubMed: Bagnall et al., 1999, Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.143+9477_oFUNDC2:c.133+1337delinsATCCGCAGTGGATCCG r.(?) p.? EAHAD-CFDB likely pathogenic g.154241208_154249358delinsATCCGCAGTGGATCCG - - - F8_001194 1 more item PubMed: Sheen et al., 2007 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.144-26A>T r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154227901T>A g.154999626T>A - - F8_001193 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.144-11T>G r.(=) p.(=) EAHAD-CFDB likely pathogenic g.154227886A>C g.154999611A>C - - F8_001192 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.144-5C>G r.spl? p.? EAHAD-CFDB likely pathogenic g.154227880G>C g.154999605G>C - - F8_000013 - PubMed: Green et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
-?/. 1 - c.144-5C>T r.spl? p.? - likely benign g.154227880G>A g.154999605G>A F8(NM_000132.3):c.144-5C>T - F8_002055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 2 1i c.144-2A>G r.spl? p.? EAHAD-CFDB likely pathogenic g.154227877T>C g.154999602T>C - - F8_000041 - Unpublished, PubMed: Liu et al., 2002 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.144-1G>A r.spl? p.? EAHAD-CFDB likely pathogenic g.154227876C>T g.154999601C>T - - F8_000040 - Unpublished, PubMed: Timur et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/. 1 - c.144-1G>T r.spl? p.? - pathogenic g.154227876C>A g.154999601C>A F8(NM_000132.3):c.144-1G>T - F8_002023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 1i c.(143+1_144-1)_(143+1_144-1)del r.? p.? - VUS g.(154227876_154250684)_(154227876_154250684)del - - - F8_000060 - PubMed: Levinson et al., 1990 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 1i_2i c.(143+1_144-1)_(265+1_266-1)del r.? p.? - - g.(154225371_154227753)_(154227876_154250684)del - - - F8_001847 - PubMed: Lannoy et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1i_2i c.(143+1_144-1)_(265+1_266-1)dup r.? p.? EAHAD-CFDB unclassified g.(154225371_154227753)_(154227876_154250684)dup - - - F8_002579 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
+?/., ./. 4 1i_3i c.(143+1_144-1)_(388+1_389-1)del r.? p.? EAHAD-CFDB unclassified g.(154221424_154225247)_(154227876_154250684)del - - - F8_001872 - PubMed: Johnsen et al., 2017, PubMed: Rossetti et al., 2007, PubMed: Youssoufian et al., 1988d - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 2 1i_4i c.(143+1_144-1)_(601+1_602-1)del r.? p.? - - g.(154215581_154221210)_(154227876_154250684)del - - - F8_001873 - Unpublished, PubMed: Lin et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1i_4i c.(143+1_144-1)_(601+1_602-1)dup r.? p.? EAHAD-CFDB unclassified g.(154215581_154221210)_(154227876_154250684)dup - - - F8_002540 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
./. 1 1i_5i c.(143+1_144-1)_(670+1_671-1)del r.? p.? - - g.(154213079_154215511)_(154227876_154250684)del - - - F8_001874 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 7 1i_6i c.(143+1_144-1)_(787+1_788-1)del r.? p.? EAHAD-CFDB unclassified g.(154197828_154212961)_(154227876_154250684)del - - - F8_001875 - PubMed: Johnsen et al., 2017, PubMed: Coppola et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1i_7i c.(143+1_144-1)_(1009+1_1010-1)del r.? p.? EAHAD-CFDB unclassified g.(154194963_154197605)_(154227876_154250684)del - - - F8_002492 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
./. 1 1i_8i c.(143+1_144-1)_(1271+1_1272-1)del r.? p.? - - g.(154194417_154194700)_(154227876_154250684)del - - - F8_001876 - PubMed: Fidanci et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 2 1i_9i c.(143+1_144-1)_(1443+1_1444-1)del r.? p.? EAHAD-CFDB unclassified g.(154189444_154194244)_(154227876_154250684)del - - - F8_001877 - PubMed: Johnsen et al., 2017, PubMed: Jayandharan et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1i_10i c.(143+1_144-1)_(1537+1_1538-1)del r.? p.? EAHAD-CFDB unclassified g.(154185447_154189349)_(154227876_154250684)del - - - F8_002453 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
./. 1 1i_12i c.(143+1_144-1)_(1903+1_1904-1)del r.? p.? - - g.(154176183_154182166)_(154227876_154250684)del - - - F8_001878 - PubMed: Rossetti et al., 2007 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/., ./. 2 1i_13i c.(143+1_144-1)_(2113+1_2114-1)del r.? p.? EAHAD-CFDB unclassified g.(154159952_154175972)_(154227876_154250684)del - - - F8_001879 - PubMed: Johnsen et al., 2017, PubMed: Green et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
./. 1 1i_22i c.(143+1_144-1)_(6429+1_6430-1)del r.? p.? - - g.(154091503_154124351)_(154227876_154250684)del - - - F8_001880 - PubMed: Casaña et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+?/. 1 1i_22i c.(143+1_144-1)_(6429+1_6430-1)dup r.? p.? EAHAD-CFDB unclassified g.(154091503_154124351)_(154227876_154250684)dup - - - F8_002141 - PubMed: Johnsen et al., 2017 - - Unknown - - - - - Geoffrey Kemball-Cook
./. 2 1i_25i c.(143+1_144-1)_(6900+1_6901-1)del r.? p.? - - g.(154066028_154088706)_(154227876_154250684)del - - - F8_001881 - PubMed: Salviato et al., 2002, PubMed: Tagariello et al., 2000 - - Unknown ? - - - - Geoffrey Kemball-Cook
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »