Full data view for gene TPP1

An NCL gene variant database
Information The variants shown are described using the NM_000391.3 transcript reference sequence.

210 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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     
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 A-III.10_Sun_2013; REL12 PubMed: Sun 2013 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control ? PubMed: Sun 2013 carrier - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 A-III.2_Sun_2013; REL12 PubMed: Sun 2013 - - - Netherlands - - - - - 10 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 A-III.3_Sun_2013; REL12 PubMed: Sun 2013 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: Sun 2013 carrier - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 A-III.6_Sun_2013; REL12 PubMed: Sun 2013 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control ? PubMed: Sun 2013 carrier - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Parent #2 - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 A-III.9_Sun_2013; REL12 PubMed: Sun 2013 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 5i c.509-1G>C r.[508_509ins508+1_509-2insC, =] p.[Val170Glyfs*29, =] Paternal (inferred) - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sun 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCAR7 B-II.1_Sun_2013 PubMed: Sun 2013 - - - Netherlands - - - - - 2 Johan den Dunnen
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 1998 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 1998 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 1999 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 1999 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2001 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2002 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2002 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2003 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Unknown - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2004 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Unknown - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2005 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Unknown - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2006 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Unknown - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Wisniewski 2007 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G g.3556G>C - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Spanish/French/English/Irish/American Indian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Irish/American Indian/ German - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Scottland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Dutch - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - German / English - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - German / English - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - German / English - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Ireland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Ireland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Swedish-English-Irish/Scottish-Irish-Norwegian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Swedish-English-Irish/Scottish-Irish-Norwegian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Scottland-Ireland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Scottland-Ireland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - English-Irish / English-Swedish - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - English-Irish / English-Swedish - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - English-Irish / German-Indian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - English-Irish / German-Indian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - United Kingdom (Great Britain) England - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Germany - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Germany / Irland-Scottland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - German-Czech/canadian-North American Indian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Denmark - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Northern European - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Scottland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England-Ireland-Scottland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England-Ireland-American Indian - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - French-Irish-German - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Irish-Scottish-English - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - England / Scottland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - France / Italy - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Finnish-Swedish-Norwegian/English-Scottish - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - Denmark - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 JNCL PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - French-German-Irish-Scottish-English - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Sleat 1999 - - - - Czech-Ukranian-Welsh - - - - 1 Sara Mole
+/. 5i c.509-1G>C r.508_509ins508+1_509-2insC p.? Paternal (confirmed) - pathogenic g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Hartikainen 1999 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA, RNA RT-PCR, SEQ - - CLN 10356316-Pat1 PubMed: Hartikainen 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents/sisters F no United States Scottland - Ireland- England - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 not p.Ala555Pro as originally published PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Zhong 998a, PubMed: Zhong 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Zhong 2000 - - - United States - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Berry-Kravis 2000 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Berry-Kravis 2000 - - - - European / Native American - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Steinfeld 2002 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Steinfeld 2002 - - - Germany - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Sleat 1999, PubMed: Ju 2002, PubMed: Kousi 2012 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 Added entry for 2nd allele. PubMed: Hartikainen 1999 - - Germline - - BanI-;NlaIV- - - DNA SEQ - - CLN ? PubMed: Ju 2002 - - - Canada - - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #2 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
?/. 5i c.509-1G>C r.spl p.? Parent #1 - VUS g.6638385C>G g.6617154C>G - - TPP1_000022 - PubMed: Moore 2008 - - Germline - - BmrI+;BsrI+;SfcI- - - DNA SEQ - - CLN ? PubMed: Moore 2008 - - - Canada Newfoundland - - - - 1 Sara Mole
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.