Full data view for gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

226 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat1/2 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat3 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat5 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 6 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C15 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C17 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C31 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0 Both (homozygous) g.(?_47596644)_(47602439_47604152)del - del Ex1-4 - EPCAM_000031 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 31 Salomon 2014 - M - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del pathogenic r.0 p.0 Both (homozygous) g.(?_47596644)_(47602439_47604152)del - Exon1-4F - EPCAM_000031 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 12 Sivagnanam, submitted - F - - Hispanic - 0 - - 1 Mamata Sivagnanam
+/. _1_7i c.(?_-1)_(858+1_859-1)del pathogenic r.0 p.0 Both (homozygous) g.(?_47596644)_(47607109_47612304)del - del Ex1-7 - EPCAM_000032 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 32 Salomon 2014 - M - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0 Both (homozygous) g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 33 Salomon 2014 - F - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic r.0 p.0 Both (homozygous) g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - AlMahamed 2017 - - Germline - - - 0 - DNA SEQ - - DIAR 3 AlMahamed 2017 - M no Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del pathogenic (dominant) r.0 p.0 Unknown g.(?_47596644)_(47643569_47656880)del g.? - - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 28874130-Fam PubMed: Rossi 2017 family - - Chile - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(_-1)_(*415_?)del pathogenic (dominant) r.? p.? Unknown g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 28093616-Pat8 PubMed: Villacis 2017 - - - Brazil - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? pathogenic (dominant) r.? p.? Unknown g.? g.? - - EPCAM_000000 deletion includes exon 8, 9 and 3kb PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 5 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. 1 c.1A>C pathogenic r.(?) p.0? Parent #1 g.47596645A>C - M1L - EPCAM_000060 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 2 Sivagnanam, submitted - F - Palestine - - 0 - - 1 Mamata Sivagnanam
+/. - c.13C>T pathogenic r.(?) p.(Gln5*) Unknown g.47596657C>T - EPCAM(NM_002354.2):c.13C>T (p.Q5*) - EPCAM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.38_62dup pathogenic r.(?) p.(Ala22Cysfs*17) Parent #2 g.47596682_47596706dup - 38_62dup25 - EPCAM_000051 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 2 Sivagnanam, submitted - F - Palestine - - 0 - - 1 Mamata Sivagnanam
+/. 1 c.48_68del pathogenic r.(?) p.(Thr17_Ala23del) Parent #2 g.47596692_47596712del - 47_67del21 - EPCAM_000050 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 1 Sivagnanam, submitted - M - - white - 0 - - 1 Mamata Sivagnanam
-?/. - c.77-11del likely benign r.(=) p.(=) Unknown g.47600591del - EPCAM(NM_002354.2):c.77-20delT - EPCAM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.77-11T>A benign r.(=) p.(=) Unknown g.47600591T>A - EPCAM(NM_002354.2):c.77-11T>A - EPCAM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i_5i c.(76+1_77-1)_(555+1_556-1)del pathogenic r.? p.? Parent #1 g.(47596721_47600601)_(47604217_47606091)del - del Ex2-5 - EPCAM_000034 - Tang 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Tang 2016 - F no China - - 0 - - 1 Mamata Sivagnanam
+/. 2 c.113G>A pathogenic r.(?) p.(Cys38Tyr) Parent #1 g.47600638G>A - - - EPCAM_000059 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 1 Sivagnanam, submitted - M - - white - 0 - - 1 Mamata Sivagnanam
+/. 2 c.139C>T pathogenic r.(?) p.0? Parent #1 g.47600664C>T - - - EPCAM_000040 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Salomon 2014 - F - Italy - - 0 - - 1 Mamata Sivagnanam
-?/. - c.171C>A likely benign r.(?) p.(=) Unknown g.47600696C>A - EPCAM(NM_002354.2):c.171C>A (p.=) - EPCAM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _3_9_ c.(?_185-1)_(*415_?)del pathogenic (dominant) r.? p.? Unknown g.(?_47600946)_(47614167_?)del g.? - - EPCAM_000000 deletion includes at least exons 3, 8, 9 PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat4 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - DNA MLPA - - ? - {microatt:1003310, Desiree du Sart} - - - - - - 0 - - 1 INSiGHT group
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del pathogenic r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel] - EPCAM_000006 - - - - De novo - - - 0 - DNA SEQ - screen date 2014-01-01 cancer, rectal - - - M - - - - 0 - - 1 Ian Frayling
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del VUS r.? p.? Unknown g.(47600710_47600946)_(47710089_?)del - c.185-?_945+?del - EPCAM_000006 - PubMed: Lagerstedt-Robinson et al. 2016 - - Germline - - - 0 - DNA SEQ - - HNPCC 27601186-Pat PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
+/. 3 c.197G>A pathogenic r.(?) p.(Cys66Tyr) Parent #1 g.47600959G>A - - - EPCAM_000056 - Sivagnanam 2008; Schnell 2013 - - Germline - - - 0 - DNA SEQ - - DIAR - Sivagnanam 2008; Schnell 2013 - M no Russia - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) Both (homozygous) g.47600989C>G - - - EPCAM_000039 - Theoni 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Theoni 2014 - F yes - East Africa - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) Both (homozygous) g.47600989C>G - - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 2 Salomon 2014 - F - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G pathogenic r.(?) p.(Ser76*) Parent #1 g.47600989C>G - - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.265C>T pathogenic r.(?) p.(Gln89*) Parent #2 g.47601027C>T - - - EPCAM_000038 - Shakhnovic 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Shakhnovic 2014 - M no - white - 0 - - 1 Mamata Sivagnanam
-?/. - c.267G>C likely benign r.(?) p.(Gln89His) Unknown g.47601029G>C - EPCAM(NM_002354.2):c.267G>C (p.Q89H) - EPCAM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.267G>C pathogenic r.(?) p.(Gln89His) Parent #1 g.47601029G>C - - - EPCAM_000012 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 3 Sivagnanam, submitted - M - United Kingdom (Great Britain) - - 0 - - 1 Mamata Sivagnanam
+?/. - c.307G>A likely pathogenic r.(?) p.(Gly103Arg) Unknown g.47601069G>A - EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.307G>A pathogenic r.(?) p.(Gly103Arg) Unknown g.47601069G>A - EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Both (homozygous) g.47601069G>A - - - EPCAM_000013 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 4 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Parent #2 g.47601069G>A - - - EPCAM_000013 - Tang 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Tang 2016 - F no China - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Parent #1 g.47601069G>A - - - EPCAM_000013 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 4 Sivagnanam, submitted - M - United Kingdom (Great Britain);Italy - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.314T>G pathogenic r.(?) p.(Phe105Cys) Both (homozygous) g.47601076T>G - - - EPCAM_000041 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 5 Salomon 2014 - F - Sri Lanka - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*) Parent #1 g.47601078A>T - - - EPCAM_000057 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,1 Ko 2010 - F no Korea, South (Republic) - - 0 - - 2 Mamata Sivagnanam
+/. 3 c.316A>T pathogenic r.(?) p.(Lys106*) Parent #1 g.47601078A>T - - - EPCAM_000057 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,2 Ko 2010 - M no Korea, South (Republic) - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.321del pathogenic r.(?) p.(Lys108Serfs*12) Both (homozygous) g.47601083del - 321delC - EPCAM_000042 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 6 Salomon 2014 - M - Mali - - 0 - - 1 Mamata Sivagnanam
-/. - c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C - EPCAM(NM_002354.2):c.344T>C (p.M115T) - EPCAM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) Parent #1 g.47601106T>C - - - EPCAM_000014 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
+/. - c.347G>A pathogenic r.(?) p.(Cys116Tyr) Unknown g.47601109G>A - EPCAM(NM_002354.2):c.347G>A (p.C116Y) - EPCAM_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9) Both (homozygous) g.47601114_47601130del - - - EPCAM_000043 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 7,1 Salomon 2014 - M - Morocco - - 0 - - 2 Mamata Sivagnanam
+/. 3 c.352_368del pathogenic r.(?) p.(Cys118Glyfs*9) Both (homozygous) g.47601114_47601130del - - - EPCAM_000043 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 7,2 Salomon 2014 - M - Morocco - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.359A>T pathogenic r.(?) p.(Asn120Ile) Both (homozygous) g.47601121A>T - - - EPCAM_000044 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 8 Salomon 2014 - M - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.380C>T pathogenic r.(?) p.(Thr127Ile) Parent #1 g.47601142C>T - - - EPCAM_000045 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 9 Salomon 2014 - F - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.394G>T pathogenic r.(?) p.(Glu132*) Both (homozygous) g.47601156G>T - - - EPCAM_000046 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 10 Salomon 2014 - F - Egypt - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*) Both (homozygous) g.47601174C>T - - - EPCAM_000036 - Sivagnanam 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Sivagnanam 2010 - F yes Pakistan - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.412C>T pathogenic r.(?) p.(Arg138*) Both (homozygous) g.47601174C>T - - - EPCAM_000036 - AlMahamed 2017 - - Germline - - - 0 - DNA SEQ - - DIAR 4 AlMahamed 2017 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 3i_9_ c.426-544_*3904del pathogenic (dominant) r.? p.? Unknown g.47601829_47617656del g.47374690_47390518del - - EPCAM_000066 15828 bp deletion C_AluSq to C_AluSz6 PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F10DId PubMed: Kuiper 2011 - - - Germany - - 0 - - 1 Mamata Sivagnanam
+/. 3i c.426-1G>A pathogenic r.spl p.? Both (homozygous) g.47602372G>A - - - EPCAM_000035 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR - Sivagnanam 2008 - M yes Canada Native Canadian - 0 - - 1 Mamata Sivagnanam
+/. 3i c.426-1G>A pathogenic r.spl p.? Parent #1 g.47602372G>A - - - EPCAM_000035 - Shakhnovic 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Shakhnovic 2014 - M no - white - 0 - - 1 Mamata Sivagnanam
+/. 4 c.437T>A pathogenic r.(?) p.(Ile146Asn) Parent #1 g.47602384T>A - - - EPCAM_000049 unknown variant 2nd allele d'Apolito 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 1 d'Apolito 2016 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 4 c.467del pathogenic r.(?) p.(Pro156Leufs*54) Parent #1 g.47602414del - 467delC - EPCAM_000058 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 11 Salomon 2014 - M - France - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Both (homozygous) g.47602439G>A g.47375300G>A IVS4+1G>A - EPCAM_000003 SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased PubMed: Sivagnanam 2008 - - Germline - - - 0 - DNA, RNA arraySNP, RT-PCR, SEQ - - ? - PubMed: Sivagnanam 2008 2 affecteds, double second cousins - yes (United States) - - 0 - - 2 Johan den Dunnen
+/. 4i c.491+1G>A pathogenic r.spl p.? Both (homozygous) g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR P1 Sivagnanam 2008 - M no - Mexican-American - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Both (homozygous) g.47602439G>A - - - EPCAM_000003 - Sivagnanam 2008 - - Germline - - - 0 - DNA SEQ - - DIAR P2 Sivagnanam 2008 - M no - Mexican-American - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Parent #2 g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,1 Ko 2010 - F no Korea, South (Republic) - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.spl p.? Parent #2 g.47602439G>A - - - EPCAM_000003 - Ko 2010 - - Germline - - - 0 - DNA SEQ - - DIAR 1,2 Ko 2010 - M no Korea, South (Republic) - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 6 Sivagnanam, submitted - M - - Hispanic - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 11,1 Sivagnanam, submitted - M - - - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #2 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 11,2 Sivagnanam, submitted - M - - - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #1 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,1 Sivagnanam, submitted - M - Bangladesh - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del Parent #1 g.47602439G>A - - - EPCAM_000003 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 5,2 Sivagnanam, submitted - M - Bangladesh - - 0 - - 1 Mamata Sivagnanam
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.? Unknown g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F03DId PubMed: Kuiper 2011 - - - Germany - - 0 - - 1 Mamata Sivagnanam
+/. 4i_9_ c.491+529_*874del pathogenic (dominant) r.? p.? Unknown g.47602967_47614626del g.47375828_47387488del - - EPCAM_000067 11660 bp deletion C_AluSg4 to C_AluSg4 PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F07DId PubMed: Kuiper 2011 - - - Germany - - 0 - - 1 Mamata Sivagnanam
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.? Unknown g.47603644_47627473del g.47376505_47400335del - - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 PubMed: Kuiper 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21309036-F14Su PubMed: Kuiper 2011 - - - Switzerland - - 0 - - 1 Mamata Sivagnanam
+/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.? Unknown g.47603644_47627473del g.47376505_47400335del AC079775.6:g.71494_95323delins9 - EPCAM_000068 23830 bp deletion C_AluSp to C_AluSx1 PubMed: Van der Klift 2005 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 15942939-SA85 PubMed: Van der Klift 2005 - - - Switzerland - - 0 - - 1 Mamata Sivagnanam
-/. - c.492-5T>C benign r.spl? p.? Unknown g.47604148T>C - EPCAM(NM_002354.2):c.492-5T>C - EPCAM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.492-5T>C pathogenic r.spl? p.? Parent #2 g.47604148T>C - - - EPCAM_000015 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 4 Sivagnanam, submitted - M - United Kingdom (Great Britain);Italy - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Both (homozygous) g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 1 II.1 Salomon 2011 - M yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Parent #2 g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 4 II.1 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Parent #2 g.47604151A>G - - - EPCAM_000037 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 6 IV.5 Salomon 2011 - F no Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Both (homozygous) g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 12 Salomon 2014 - M - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Parent #1 g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 13 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Parent #1 g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 14,1 Salomon 2014 - F - Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 4i c.492-2A>G pathogenic r.spl p.? Parent #1 g.47604151A>G - - - EPCAM_000037 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 14,2 Salomon 2014 - M - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-1G>A pathogenic r.spl p.? Parent #2 g.47604152G>A - - - EPCAM_000047 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 11 Salomon 2014 - M - France - - 0 - - 1 Mamata Sivagnanam
+/. 4i c.492-1G>A pathogenic r.spl p.? Parent #1 g.47604152G>A - - - EPCAM_000047 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 6 Sivagnanam, submitted - M - - Hispanic - 0 - - 1 Mamata Sivagnanam
+/. 4i_5i c.(491+1_492-1)_(555+1_556-1)del pathogenic r.(492_555del) p.(Ala165Metfs*24) Both (homozygous) g.(47602439_47604152)_(47604217_47606091)del - - - EPCAM_000030 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 15 Salomon 2014 - F - France - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Profs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Al Mayouf 2009 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 2 Al Mayouf 2009 - M yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Al Mayouf 2009 - F yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Al Mayouf 2009 - - Germline - - - 0 - DNA SEQ - - DIAR 4 Al Mayouf 2009 - F yes Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 2 II.1 Salomon 2011 - M yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 2 II.2 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 3 II.1 Salomon 2011 - F yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 5 II.1 Salomon 2011 - M yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 5 II.3 Salomon 2011 - M yes Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 6 IV.3 Salomon 2011 - F yes Kuwait - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 7 II.1 Salomon 2011 - M yes Qatar - - 0 - - 2 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Both (homozygous) g.47604160dup - 498insC - EPCAM_000024 - Salomon 2011 - - Germline - - - 0 - DNA SEQ - - DIAR Family 7 II.5 Salomon 2011 - F yes Qatar - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Parent #2 g.47604160dup - 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 13 Salomon 2014 - F - Kuwait - - 0 - - 1 Mamata Sivagnanam
+/. 5 c.499dup pathogenic r.(?) p.(Gln167Serfs*21) Parent #2 g.47604160dup - 498insC - EPCAM_000024 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 14,1 Salomon 2014 - F - Kuwait - - 0 - - 2 Mamata Sivagnanam
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