Full data view for gene F8

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

8606 entries on 87 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-/. 13i c.(2114-4391_2114-4289)= r.(?) p.(=) Unknown - benign g.(154164240_154164342)= g.(154935965_154936067)= (CA)21 - F8_002605 - PubMed: Lalloz et al., 1991 - - Germline - 47/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)del(2) r.(?) p.(=) Unknown - benign g.(154164240_154164342)del(2) g.(154935965_154936067)del(2) (CA)20 - F8_002606 - PubMed: Lalloz et al., 1991 - - Germline - 71/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)del(4) r.(?) p.(=) Unknown - benign g.(154164240_154164342)del(4) g.(154935965_154936067)del(4) (CA)19 - F8_002607 - PubMed: Lalloz et al., 1991 - - Germline - 12/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)del(6) r.(?) p.(=) Unknown - benign g.(154164240_154164342)del(6) g.(154935965_154936067)del(6) (CA)18 - F8_002608 - PubMed: Lalloz et al., 1991 - - Germline - 1/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)ins(2) r.(?) p.(=) Unknown - benign g.(154164240_154164342)ins(2) g.(154935965_154936067)ins(2) (CA)22 - F8_002604 - PubMed: Lalloz et al., 1991 - - Germline - 17/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)ins(4) r.(?) p.(=) Unknown - benign g.(154164240_154164342)ins(4) g.(154935965_154936067)ins(4) (CA)23 - F8_002603 - PubMed: Lalloz et al., 1991 - - Germline - 8/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
-/. 13i c.(2114-4391_2114-4289)ins(6) r.(?) p.(=) Unknown - benign g.(154164240_154164342)ins(6) g.(154935965_154936067)ins(6) (CA)24 - F8_002602 - PubMed: Lalloz et al., 1991 - - Germline - 2/159 chromosomes - 0 - DNA PAGE, PCR - - Healthy/Control - PubMed: Lalloz et al., 1991 analysis 67 females/25 males - - - - - 0 - - 1 Johan den Dunnen
./. - c.-471602_*500031dup - - 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
+/. 22i c.-253263_6429+7739inv r.6430_*1809delinsNC_000023.10:g.(154504612_?) p.Val2144_2351Tyrdelins? Maternal (inferred) - pathogenic g.154116613_154504090inv g.154888338_155275815delinsGAAAAAAAAAAAAAAAAGATGAAGTCATGGCAAAGGAATAGAGGAGTCATCCTGAAAGATTGCCAAATTTGGAAAAATTGCCTCAATAAAATATAGATACTCCTCACCTTCTGATGGGGCTAT - - F8_001968 only 1 inversion breakpoint sequenced PubMed: Naylor 1996 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, Southern - - F8D 08605341-PatS143 PubMed: Naylor 1996 affected male, mother and other ascendant relatives deceased, family history indicates patient's mother/maternal grandmother were obligatory cariers of hemophilia M - United Kingdom (Great Britain) - >58y 0 - - 1 Johan den Dunnen
+/+? 1 c.-905G>C r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251732C>G g.155023457C>G - - F8_001198 - PubMed: Klopp et al., 2002 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Klopp et al., 2002 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? 1 c.-905G>C r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251732C>G g.155023457C>G - - F8_001198 - PubMed: Klopp et al., 2002 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Klopp et al., 2002 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-860A>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251687T>C g.155023412T>C - - F8_000052 - PubMed: Sanna et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Sanna et al., 2008 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047107, 00047108 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047108 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047107 and 00047109. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-257T>G r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251084A>C g.155022809A>C - - F8_000051 - PubMed: Riccardi et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Riccardi et al., 2009 Related to individuals 00047106, 00047107 and 00047108. M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Dai et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Dai et al., 2008 Related to individuals 00047112 and 00047113. M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Dai et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Dai et al., 2008 Related to individuals 00047111 and 00047113. M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Dai et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Dai et al., 2008 Related to individuals 00047111 and 00047112. M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154251046G>A g.155022771G>A - - F8_000036 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.154251046G>A g.155022771G>A - - F8_000036 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+/+? - c.-219C>T r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.154251046G>A g.155022771G>A - - F8_000036 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1 c.-219del r.(=) p.(=) Maternal (inferred) EAHAD-CFDB unclassified g.154251047del g.155022772del c.-219delC - F8_002599 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. 1 c.-135_-134ins(?) r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.154250961_154250962ins(?) - - - F8_002598 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+/+? 1 c.-112G>A r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154250939C>T g.155022664C>T - - F8_000035 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - 0 - - 1 Geoffrey Kemball-Cook
+/+? 1 c.-42C>T r.(=) p.(=) Unknown EAHAD-CFDB likely pathogenic g.154250869G>A g.155022594G>A - - F8_000034 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lombardi et al., 2004 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Lombardi et al., 2004 - M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
./. _12i c.(?_-36)_(1903+1_1904-1)del r.? p.? Unknown - - g.(154176183_154182166)_(154250863_?)del - - - F8_001865 - PubMed: Lannoy et al., 2009 - - Unknown ? - - 0 - DNA MLPA - - HEMA - PubMed: Lannoy et al., 2009 - F ? (Belgium) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Rossetti et al., 2007 - - Unknown ? - - 0 - DNA CSGE, PCR, PCRlr, SEQ, Southern - - HEMA - PubMed: Rossetti et al., 2007 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Higuchi et al., 1991a - - Unknown ? - - 0 - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Higuchi et al., 1991a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Ivaskevicius et al., 2001 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, SEQ, Southern - - HEMA - PubMed: Ivaskevicius et al., 2001 - M ? Lithuania - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Lin et al., 2008 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Salviato et al., 2007 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Salviato et al., 2007 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Santacroce et al., 2009 - - Unknown ? - - 0 - DNA MLPA - - HEMA - PubMed: Santacroce et al., 2009 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Reiner & Thompson, 1992 - - Unknown ? - - 0 - DNA PCRdig, SEQ - - HEMA - PubMed: Reiner & Thompson, 1992 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Rossetti et al., 2007 - - Unknown ? - - 0 - DNA CSCE, PCR, PCRlr, SEQ, Southern - - HEMA - PubMed: Rossetti et al., 2007 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Millar et al., 1990 - - Unknown ? - - 0 - DNA PCR, Southern - - HEMA - PubMed: Millar et al., 1990 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Youssoufian et al., 1988d - - Unknown ? - - 0 - DNA Southern - - HEMA - PubMed: Youssoufian et al., 1988d - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Casaña et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Casaña et al., 2008 - M ? (Spain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Laurie et al., 2007 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - 0 - - 1 Geoffrey Kemball-Cook
./. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Unknown - - g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Schwaab et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Schwaab et al., 1993 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _1i c.(?_-1)_(143+1_144-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154227876_154250684)_(154250828_?)del - - - F8_001843 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
./. _2i c.(?_-1)_(265+1_266-1)del r.? p.? Unknown - - g.(154225371_154227753)_(154250828_?)del - - - F8_001866 - PubMed: Santacroce et al., 2009 - - Unknown ? - - 0 - DNA MLPA - - HEMA - PubMed: Santacroce et al., 2009 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _2i c.(?_-1)_(265+1_266-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154225371_154227753)_(154250828_?)del - - - F8_001866 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
./. _3i c.(?_-1)_(388+1_389-1)del r.? p.? Unknown - - g.(154221424_154225247)_(154250828_?)del - - - F8_001863 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? ? (unknown) - - 0 - - 1 Geoffrey Kemball-Cook
./. _5i c.(?_-1)_(670+1_671-1)del r.? p.? Unknown - - g.(154213079_154215511)_(154250828_?)del - - - F8_001862 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2005 - M ? India - - 0 - - 1 Geoffrey Kemball-Cook
./. _5i c.(?_-1)_(670+1_671-1)del r.? p.? Unknown - - g.(154213079_154215511)_(154250828_?)del - - - F8_001862 - PubMed: Acquila et al., 2008 - - Unknown ? - - 0 - DNA MLPA - - HEMA - PubMed: Acquila et al., 2008 - M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
./. _5i c.(?_-1)_(670+1_671-1)del r.? p.? Unknown - - g.(154213079_154215511)_(154250828_?)del - - - F8_001862 - PubMed: Higuchi et al., 1989 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Higuchi et al., 1989 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _5i c.(?_-1)_(670+1_671-1)dup r.? p.? Unknown - - g.(154213079_154215511)_(154250828_?)dup - - - F8_001952 - PubMed: Rost et al., 2008 - - Unknown ? - - 0 - DNA DHPLC, MLPA - - HEMA - PubMed: Rost et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Coppola et al., 2009 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ, SSCA - - HEMA - PubMed: Coppola et al., 2009 - M ? (Italy) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Astermark et al., 2005 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, PCRlr, SEQ, Southern, SSCA - - HEMA - PubMed: Astermark et al., 2005 Related to individual 00095005 M ? (Sweden) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Astermark et al., 2005 - - Unknown ? - - 0 - DNA CMC, DGGE, DHPLC, PCR, PCRlr, SEQ, Southern, SSCA - - HEMA - PubMed: Astermark et al., 2005 Related to individual 00095004 M ? (Sweden) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Green et al., 2008 - - Unknown ? - - 0 - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - 0 - - 1 Geoffrey Kemball-Cook
./. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Unknown - - g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Millar et al., 1990 - - Unknown ? - - 0 - DNA PCR, Southern - - HEMA - PubMed: Millar et al., 1990 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _6i c.(?_-1)_(787+1_788-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154197828_154212961)_(154250828_?)del - - - F8_001861 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
./. _7i c.(?_-1)_(1009+1_1010-1)del r.? p.? Unknown - - g.(154194963_154197605)_(154250828_?)del - - - F8_001864 - PubMed: Casaña et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Casaña et al., 2008 - M ? (Spain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _7i c.(?_-1)_(1009+1_1010-1)del r.? p.? Unknown - - g.(154194963_154197605)_(154250828_?)del - - - F8_001864 - PubMed: Ljung & Sjörin, 1999 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Ljung & Sjörin, 1999 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
./. _8i c.(?_-1)_(1271+1_1272-1)del r.? p.? Unknown - - g.(154194417_154194700)_(154250828_?)del - - - F8_001867 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? ? (unknown) - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _13i c.(?_-1)_(2113+1_2114-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154159952_154175972)_(154250828_?)del - - - F8_002387 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
+?/. _13i c.(?_-1)_(2113+1_2114-1)del r.? p.? Maternal (inferred) EAHAD-CFDB unclassified g.(154159952_154175972)_(154250828_?)del - - - F8_002387 - PubMed: Johnsen et al., 2017 - - Unknown - - - 0 - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
./. _14i c.(?_-1)_(5219+1_5220-1)del r.? p.? Unknown - - g.(154134849_154156845)_(154250828_?)del - - - F8_001868 - PubMed: Citron et al., 2002 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Citron et al., 2002 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
./. _22i c.(?_-1)_(6429+1_6430-1)del r.? p.? Unknown - - g.(154091503_154124351)_(154250828_?)del - - - F8_001869 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
./. _22i c.(?_-1)_(6429+1_6430-1)del r.? p.? Unknown - - g.(154091503_154124351)_(154250828_?)del - - - F8_001869 - PubMed: Ma et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Ma et al., 2008 - F ? Taiwan - - 0 - - 1 Geoffrey Kemball-Cook
./. _22i c.(?_-1)_(6429+1_6430-1)del r.? p.? Unknown - - g.(154091503_154124351)_(154250828_?)del - - - F8_001869 - PubMed: Venceslá et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Venceslá et al., 2008 - F ? (Spain) - - 0 - - 1 Geoffrey Kemball-Cook
./. _25i c.(?_-1)_(6900+1_6901-1)del r.? p.? Unknown - - g.(154066028_154088706)_(154250828_?)del - - - F8_001870 - PubMed: Pavlova et al., 2008 - - Unknown ? - - 0 - DNA HPLC, PCR - - HEMA - PubMed: Pavlova et al., 2008 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
./. _1_26_ c.(?_-1)_(*1_?)del r.? p.? Unknown - - g.(?_154065871)_(154250828_?)del - - - F8_001871 - Unpublished - - Unknown ? - - 0 - DNA ? - - HEMA - Unpublished - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1_26_ c.(?_-1)_(*1_?)del r.? p.? Unknown - - g.(?_154065871)_(154250828_?)del - - - F8_001871 - PubMed: Casula et al., 1990 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMA - PubMed: Casula et al., 1990 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
./. _1_26_ c.(?_-1)_(*1_?)del r.? p.? Unknown - - g.(?_154065871)_(154250828_?)del - - - F8_001871 - PubMed: Ma et al., 2008 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMA - PubMed: Ma et al., 2008 - F ? Taiwan - - 0 - - 1 Geoffrey Kemball-Cook
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