Full data view for gene CEP290

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
Information The variants shown are described using the NM_025114.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 41 c.?G>T - r.(?) p.(Glu1903*) Unknown g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*?, copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 41 c.?G>T - r.(?) p.(Glu1903*) Unknown g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*? OMIM:var0013 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.1A>G - r.(?) p.(Met1?) Unknown g.88535084T>C - - - CEP290_000010 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.2T>A - r.(?) p.0? Parent #1 g.88535083A>T - - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - Germline - - - 0 - DNA DHPLC - - LCA - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.2T>A - r.(?) p.0? Parent #1 g.88535083A>T - - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - Germline - - - 0 - DNA DHPLC - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #1 g.88535064C>A - - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #2 g.88535064C>A - - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #1 g.88535064C>A - - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006 rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Unknown g.88535064C>A - - - CEP290_000011 - OMIM:var0003 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.103-13_103-18del - r.(?) p.? Unknown g.88534823_88534828del - - - CEP290_000127 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 3 c.148C>T - r.(?) p.(His50Tyr) Both (homozygous) g.88534765G>A - - - CEP290_000154 - - - Germline yes - - 0 needs Curator approval DNA SEQ WBC - RD - - - F yes Pakistan Pakistani - 0 - - 1 James Hejtmancik
+?/. 3 c.148C>T ACMG 3 r.(?) p.(His50Tyr) Unknown g.88534765G>A - - - CEP290_000154 - PubMed: de Castro-Miró 2016 - Germline ? - - 0 - DNA SEQ-NG-I Whole blood - LCA - PubMed: de Castro-Miró 2016 - F ? Venezuela - - 0 - - 1 Marta de Castro-Miró
+/. 3 c.164_167del - r.(?) p.(Thr55Serfs*3) Unknown g.88534746_88534749del - - - CEP290_000012 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.180+1G>T - r.spl p.? Unknown g.88534732C>A - - - CEP290_000132 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 3i c.180+2T>A - r.spl? p.? Paternal (confirmed) g.88534731A>T - - - CEP290_000131 1 Tunisian and 1 French MKS4 family (both com-het) PubMed: Baala 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.180+2T>A - r.spl p.? Unknown g.88534731A>T - - - CEP290_000131 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.180+2T>A - r.spl p.? Unknown g.88534731A>T - - - CEP290_000131 - OMIM:var0009 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.265dup - r.(?) p.(Thr89Asnfs*2) Unknown g.88532954dup - - - CEP290_000013 copied from CEP290 database - rs62642052 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.287del - r.(?) p.(Asn96Metfs*29) Unknown g.88532932del - - - CEP290_000014 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.289G>T - r.(289g>u) p.(Glu97*) Unknown g.88532930C>A - p.Glu97X - CEP290_000142 1 European MKS4 family (com-het) PubMed: Tallila 2008 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5i c.297+36A>G - r.? p.? Unknown g.88532886T>C - - - CEP290_000140 copied from CEP290 database - rs45468703 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.322C>T - r.(?) p.(Arg108*) Unknown g.88530539G>A - - - CEP290_000018 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 6 c.381_382delinsT - r.(381_382delinsu) p.(Lys127Asnfs*36) Unknown g.88530479_88530480delinsA - p.Lys127AsnfsX36 - CEP290_000017 1 MKS4 family of undetermined ethnicity (com-het) PubMed: Baala 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.381_382delinsT - r.(?) p.(Lys127Asnfs*36) Unknown g.88530479_88530480delinsA - - - CEP290_000017 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.384_385del - r.(?) p.(Asp128Glufs*17) Unknown g.88530476_88530477del - - - CEP290_000016 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 6 c.384_387del - r.(384_387del) p.(Asp128Glufs*34) Unknown g.88530474_88530477del - c.384_387delTAGA: p.Asp128GlufsX34 - CEP290_000019 2 Tunisian (1 hom and 1 com-het) and 1 French (com-het) MKS4 families PubMed: Baala 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34) Unknown g.88530474_88530477del - - - CEP290_000019 - OMIM:var0008 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34) Unknown g.88530474_88530477del - - - CEP290_000019 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 3 Johan den Dunnen
+/. 6 c.437del - r.(?) p.(Glu146Glyfs*17) Unknown g.88530424del - - - CEP290_000015 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 7 c.451C>T - r.(?) p.(Arg151*) Parent #1 g.88524986G>A - - - CEP290_000001 copied from CEP290 database PubMed: Littink Karin 2010 - Germline - - - 0 - DNA SEQ - - LCA - - - M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 7 c.451C>T - r.(?) p.(Arg151*) Parent #1 g.88524986G>A - - - CEP290_000001 copied from CEP290 database PubMed: Littink Karin 2010 - Germline - - - 0 - DNA SEQ - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.566C>G - r.(?) p.(Ser189*) Unknown g.88524148G>C - - - CEP290_000021 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 9 c.613C>T - r.(613c>u) p.(Arg205*) Both (homozygous) g.88524101G>A - p.Arg205X - CEP290_000020 1 Moroccan MKS4 family (hom) PubMed: Baala 2007 rs137852835 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.613C>T - r.(?) p.(Arg205*) Unknown g.88524101G>A - - - CEP290_000020 - OMIM:var0010 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.613C>T - r.(?) p.(Arg205*) Unknown g.88524101G>A - - - CEP290_000020 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.679_680del - r.(?) p.(Glu227Serfs*2) Unknown g.88523643_88523644del - - - CEP290_000023 copied from CEP290 database - rs62640578 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 10 c.829G>C - r.(?) p.(Glu277Gln) Unknown g.88523494C>G - - - CEP290_000022 copied from CEP290 database - rs45502896 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 11 c.930A>G - r.(?) p.(=) Unknown g.88522735T>C - - - CEP290_000024 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 12i c.1066-1G>A - r.spl p.? Unknown g.88519147C>T - - - CEP290_000114 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
./. - c.1079G>A - r.(?) p.(Arg360Gln) Maternal (confirmed) g.88519133C>T - - - CEP290_000149 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 13i c.1189+1G>A - r.spl p.? Unknown g.88519022C>T - - - CEP290_000115 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 14 c.1219_1220del - r.(1219_1220delau) p.(Met407Glufs*14) Paternal (confirmed) g.88514913_88514914del - c.1219_1220delAT: p.Met407GlufsX14 - CEP290_000026 1 Finnish and 1 French MKS4 family (both com-het), 2 other European MKS4 families (1 hom and 1 com-het) PubMed: Baala 2007, PubMed: Tallila 2008 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1219_1220del - r.(?) p.(Met407Glufs*14) Unknown g.88514913_88514914del - - - CEP290_000026 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 4 Johan den Dunnen
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2) Unknown g.88514869_88514873del - - - CEP290_000025 - OMIM:var0011 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2) Unknown g.88514869_88514873del - - - CEP290_000025 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 14 c.1322T>A ACMG 5 r.(?) p.(Leu441*) Unknown g.88514811A>T - - - CEP290_000155 - PubMed: de Castro-Miró 2016 - Germline - - - 0 - DNA SEQ-NG-I Whole blood - LCA - PubMed: de Castro-Miró 2016 - F ? Venezuela - - 0 - - 1 Marta de Castro-Miró
+/. 15 c.1361del - r.(?) p.(Gly454Glufs*5) Unknown g.88514052del - - - CEP290_000028 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 15 c.1419_1423del - r.(?) p.(Ile474Argfs*5) Unknown g.88513990_88513994del - - - CEP290_000027 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27) Unknown g.88513962delT - p.K484fsX8 - CEP290_000143 1 British MKS4 family (het) PubMed: Otto 2011 - SUMMARY record yes 295/18699 CON - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1550del - r.(?) p.(Leu517*) Unknown g.88512493del - - - CEP290_000029 copied from CEP290 database - rs62640579 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 16 c.1593C>A - r.(?) p.(Tyr531*) Parent #2 g.88512450G>T - - - CEP290_000004 copied from CEP290 database PubMed: Perrault 2007 - Germline - - - 0 - DNA DHPLC - - LCA - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 16 c.1593C>A - r.(?) p.(Tyr531*) Parent #1 g.88512450G>T - - - CEP290_000004 copied from CEP290 database PubMed: Perrault 2007 - Germline - - - 0 - DNA DHPLC - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17 c.1645C>T - r.(?) p.(Arg549*) Unknown g.88512326G>A - - - CEP290_000033 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/. 17 c.1657del - r.(?) p.(Ile556Phefs*17) Unknown g.88512314del - - - CEP290_000144 - - - Germline - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 17 c.1666del - r.(?) p.(Ile556Phefs*17) Unknown g.88512305del - - - CEP290_000030 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17 c.1682_1683del - r.(?) p.(Gln561Argfs*14) Unknown g.88512288_88512289del - - - CEP290_000031 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17 c.1709C>G - r.(?) p.(Ser570*) Unknown g.88512262G>C - - - CEP290_000032 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17i c.1711+5A>G - r.spl? p.? Unknown g.88512255T>C - - - CEP290_000116 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 18 c.1824G>A - r.(?) p.(=) Unknown g.88510810C>T - - - CEP290_000034 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 18i c.1825-14_1825-13del - r.(spl?) p.(?) Parent #1 g.88508972_88508973del - - - CEP290_000006 predicted benign PubMed: Neveling 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
+/. 19 c.1859_1862del - r.(?) p.(Arg621Ilefs*2) Unknown g.88508922_88508925del - - - CEP290_000036 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/+ 19 c.1860_1861del - r.(1860_1861del) p.(Asp622Phefs*5) Unknown g.88508923_88508924del - c.1860_1861delAA: p.Glu620GlufsX7 - CEP290_000035 1 MKS4 family of undetermined ethnicity (com-het) PubMed: Baala 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 19 c.1860_1861del - r.(?) p.(Asp622Phefs*5) Unknown g.88508923_88508924del - - - CEP290_000035 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 19i c.1910-2A>C - r.spl p.? Unknown g.88508341T>G - - - CEP290_000117 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1936C>T - r.(?) p.(Gln646*) Unknown g.88508313G>A - - - CEP290_000039 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1975A>T - r.(?) p.(Lys659*) Parent #1 g.88508274T>A - - - CEP290_000152 - PubMed: Watson 2016, Journal: Watson 2016 - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/+ 20 c.1984C>T - r.(1984c>u) p.(Gln662*) Unknown g.88508265G>A - 1984C>T: p.Gln662X; p.Q662X - CEP290_000040 1 European MKS4 patient (com-het) and 1 French MKS4 patient (05/158; het) reported as MKS in Travaglini et al. 2009 and "Meckel-like" in Baala et. al 2007 PubMed: Baala et al. 2007, PubMed: Tallila et al. 2008, PubMed: Travaglini et al. 2009 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 20 c.1984C>T - r.(?) p.(Gln662*) Unknown g.88508265G>A - - - CEP290_000040 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1985A>T - r.(?) p.(Gln662Leu) Unknown g.88508264T>A - - - CEP290_000037 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/. 20 c.1991A>G - r.(?) p.(Asp664Gly) Parent #2 g.88508258T>C - - - CEP290_000007 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
?/. 20 c.1991A>G - r.(?) p.(Asp664Gly) Unknown g.88508258T>C - - - CEP290_000007 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 20 c.1992del - r.(?) p.(Pro665Leufs*10) Unknown g.88508257del - - - CEP290_000038 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 20i c.2052+30del - r.? p.? Unknown g.88508167del - - - CEP290_000118 copied from CEP290 database - rs11358611 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 21 c.2055T>C - r.(?) p.(=) Unknown g.88505633A>G - - - CEP290_000041 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21 c.2118_2122dup - r.(?) p.(Thr709Serfs*9) Unknown g.88505566_88505570dup - - - CEP290_000042 copied from CEP290 database - rs62640580 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 21i c.2217+45T>C - r.? p.? Unknown g.88505426A>G - - - CEP290_000121 copied from CEP290 database - rs45461003 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-15_2220del - r.spl p.? Unknown g.88505126_88505143del - - - CEP290_000043 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-4_2222del - r.spl p.? Unknown g.88505124_88505132del - - - CEP290_000119 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-4_2222del - r.spl p.? Unknown g.88505124_88505132del - - - CEP290_000119 - OMIM:var0004 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i c.2218-2A>C - r.spl p.? Unknown g.88505130T>G - - - CEP290_000120 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 22 c.2249T>G - r.(?) p.(Leu750*) Unknown g.88505097A>C - - - CEP290_000047 - OMIM:var0006 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 22 c.2249T>G - r.(?) p.(Leu750*) Unknown g.88505097A>C - - - CEP290_000047 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 22 c.2251C>T - r.(?) p.(Arg751*) Unknown g.88505095G>A - - - CEP290_000046 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 22 c.2268G>A - r.(?) p.(=) Unknown g.88505078C>T - - - CEP290_000045 copied from CEP290 database - rs2468255 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 22 c.2343T>C - r.(?) p.(=) Unknown g.88505003A>G - - - CEP290_000044 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 24 c.2512A>G - r.(?) p.(Lys838Glu) Unknown g.88500847T>C - - - CEP290_000048 copied from CEP290 database - rs11104738 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.2615C>T - r.(?) p.(Ser872Leu) Paternal (confirmed) g.88500654G>A - - - CEP290_000150 - PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 25 c.2695C>T - r.(?) p.(Gln899*) Unknown g.88500574G>A - - - CEP290_000049 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 25 c.2717T>G - r.(?) p.(Leu906Trp) Unknown g.88500552A>C - - - CEP290_000050 copied from CEP290 database - rs7970228 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 26 c.2906dup - r.(?) p.(Tyr969*) Unknown g.88496700dup - - - CEP290_000051 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*) Parent #2 g.88494960T>C - - - CEP290_000002 copied from CEP290 database PubMed: Littink Karin 2010 - Germline - - - 0 - DNA SEQ - - LCA - - - M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*) Parent #1 g.88494960T>C - - - CEP290_000002 copied from CEP290 database PubMed: Littink Karin 2010 - Germline - - - 0 - DNA SEQ - - LCA - - - - - - - - 0 - - 83 Johan den Dunnen
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*) Unknown g.88494960T>C - - - CEP290_000122 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 82 Johan den Dunnen
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*) Unknown g.88494960T>C - - - CEP290_000122 - OMIM:var0005 - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 27 c.3043G>T - r.(?) p.(Glu1015*) Unknown g.88490725C>A - - - CEP290_000052 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 27i c.3104-2A>G - r.spl p.? Unknown g.88487754T>C - - - CEP290_000123 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 27i c.3104-1G>A - r.spl p.? Unknown g.88487753C>T - - - CEP290_000124 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 28 c.3175del - r.(?) p.(Ile1059*) Unknown g.88487681delT - - - CEP290_000053 copied from CEP290 database - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 28 c.3175delA - r.(3175dela) p.(Ile1059*) Both (homozygous) g.88487681delT - p.Ile1059X - CEP290_000053 1 Tunisian MKS4 family (hom) PubMed: Baala 2007 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 28 c.3175dup - r.(?) p.(Ile1059Asnfs*11) Parent #2 g.88487681dup - - - CEP290_000055 - - rs6264057 Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
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