Unique variants in 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.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 2 41 c.?G>T - r.(?) p.(Glu1903*) g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*?, copied from CEP290 database, no Glu1903 in protein, Glu1902*? OMIM:var0013 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.1A>G - r.(?) p.(Met1?) g.88535084T>C g.88141307T>C - - CEP290_000010 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.2T>A - r.(?) p.0? g.88535083A>T g.88141306A>T - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - - - Johan den Dunnen
+/. 4 2 c.21G>T - r.(?) p.(Trp7Cys) g.88535064C>A g.88141287C>A - - CEP290_000005, CEP290_000011 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003, PubMed: Valente 2006, OMIM:var0003 - rs62635288 Germline - - - - - Johan den Dunnen
+/. 1 2i c.103-13_103-18del - r.(?) p.? g.88534823_88534828del - - - CEP290_000127 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+?/., +/. 2 3 c.148C>T ACMG 3 r.(?) p.(His50Tyr) g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: de Castro-Miró 2016 - - Germline ?, yes - - - needs Curator approval Marta de Castro-Miró, James Hejtmancik
+/. 1 3 c.164_167del - r.(?) p.(Thr55Serfs*3) g.88534746_88534749del g.88140969_88140972del - - CEP290_000012 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.180+1G>T - r.spl p.? g.88534732C>A g.88140955C>A - - CEP290_000132 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/., +?/+? 3 3i c.180+2T>A - r.spl, r.spl? p.? g.88534731A>T g.88140954A>T - - CEP290_000131 copied from CEP290 database, 1 Tunisian and 1 French MKS4 family (both com-het) OMIM:var0009, PubMed: Baala 2007 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/. 1 5 c.265dup - r.(?) p.(Thr89Asnfs*2) g.88532954dup g.88139177dup - - CEP290_000013 copied from CEP290 database - - rs62642052 Germline - - - - - Johan den Dunnen
+/. 1 5 c.287del - r.(?) p.(Asn96Metfs*29) g.88532932del g.88139155del - - CEP290_000014 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+ 1 5 c.289G>T - r.(289g>u) p.(Glu97*) g.88532930C>A g.88139153C>A p.Glu97X - CEP290_000142 1 European MKS4 family (com-het) PubMed: Tallila 2008 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 5i c.297+36A>G - r.? p.? g.88532886T>C g.88139109T>C - - CEP290_000140 copied from CEP290 database - - rs45468703 Germline - - - - - Johan den Dunnen
+/. 1 6 c.322C>T - r.(?) p.(Arg108*) g.88530539G>A g.88136762G>A - - CEP290_000018 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+, +/. 2 6 c.381_382delinsT - r.(381_382delinsu), r.(?) p.(Lys127Asnfs*36) g.88530479_88530480delinsA g.88136702_88136703delinsA p.Lys127AsnfsX36 - CEP290_000017 1 MKS4 family of undetermined ethnicity (com-het), copied from CEP290 database PubMed: Baala 2007 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan den Dunnen
+/. 1 6 c.384_385del - r.(?) p.(Asp128Glufs*17) g.88530476_88530477del g.88136699_88136700del - - CEP290_000016 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 6 c.384_387del - r.(384_387del), r.(?) p.(Asp128Glufs*34) g.88530474_88530477del g.88136697_88136700del c.384_387delTAGA: p.Asp128GlufsX34 - CEP290_000019 2 Tunisian (1 hom and 1 com-het) and 1 French (com-het) MKS4 families, copied from CEP290 database PubMed: Baala 2007, OMIM:var0008 - - SUMMARY record, Germline yes - - - - Anne Polvi, Johan den Dunnen
+/. 1 6 c.437del - r.(?) p.(Glu146Glyfs*17) g.88530424del g.88136647del - - CEP290_000015 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
-/. 2 - c.442-19T>A benign r.(=) p.(=) g.88525014A>T - CEP290:NM_025114.3:c.442-19T>A (?), CEP290:c.442-19T>A - CEP290_000240 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/. 2 7 c.451C>T - r.(?) p.(Arg151*) g.88524986G>A g.88131209G>A - - CEP290_000001 copied from CEP290 database PubMed: Littink Karin 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.566C>G - r.(?) p.(Ser189*) g.88524148G>C g.88130371G>C - - CEP290_000021 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 9 c.613C>T - r.(613c>u), r.(?) p.(Arg205*) g.88524101G>A g.88130324G>A p.Arg205X - CEP290_000020 1 Moroccan MKS4 family (hom), copied from CEP290 database PubMed: Baala 2007, OMIM:var0010 - rs137852835 SUMMARY record, Germline yes - - - - Anne Polvi, Johan den Dunnen
+/. 1 10 c.679_680del - r.(?) p.(Glu227Serfs*2) g.88523643_88523644del g.88129866_88129867del - - CEP290_000023 copied from CEP290 database - - rs62640578 Germline - - - - - Johan den Dunnen
-/., -?/. 3 10 c.829G>C likely benign r.(?) p.(Glu277Gln) g.88523494C>G g.88129717C>G CEP290:c.829G>C (E277Q) - CEP290_000022 copied from CEP290 database, VKGL data sharing initiative Nederland; correct HGVS to be checked - - rs45502896 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 11 c.930A>G - r.(?) p.(=) g.88522735T>C g.88128958T>C - - CEP290_000024 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 12i c.1066-1G>A - r.spl p.? g.88519147C>T g.88125370C>T - - CEP290_000114 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
./. 1 - c.1079G>A - r.(?) p.(Arg360Gln) g.88519133C>T g.88125356C>T - - CEP290_000149 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 13i c.1189+1G>A - r.spl p.? g.88519022C>T g.88125245C>T - - CEP290_000115 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/., +/+ 2 14 c.1219_1220del - r.(?), r.(1219_1220delau) p.(Met407Glufs*14) g.88514913_88514914del g.88121136_88121137del c.1219_1220delAT: p.Met407GlufsX14 - CEP290_000026 copied from CEP290 database, 1 more item PubMed: Baala 2007, PubMed: Tallila 2008 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/. 2 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2) g.88514869_88514873del g.88121092_88121096del - - CEP290_000025 copied from CEP290 database OMIM:var0011 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.1298A>G VUS r.(?) p.(Asp433Gly) g.88514835T>C - CEP290:NM_025114.3:c.1298A>G (Asp433Gly), CEP290:c.1298A>G (D433G) - CEP290_000224 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 14 c.1322T>A ACMG 5 r.(?) p.(Leu441*) g.88514811A>T g.88121034A>T - - CEP290_000155 - PubMed: de Castro-Miró 2016 - - Germline - - - - - Marta de Castro-Miró
+/. 1 15 c.1361del - r.(?) p.(Gly454Glufs*5) g.88514052del g.88120275del - - CEP290_000028 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 15 c.1419_1423del - r.(?) p.(Ile474Argfs*5) g.88513990_88513994del g.88120213_88120217del - - CEP290_000027 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+ 1 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27) g.88513962delT g.88120185delT p.K484fsX8 - CEP290_000143 1 British MKS4 family (het) PubMed: Otto 2011 - - SUMMARY record yes 295/18699 CON - - - Anne Polvi
-/. 2 - c.1522+6C>T benign r.(=) p.(=) g.88513885G>A - CEP290:c.1522+6C>T - CEP290_000218 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
+/. 1 16 c.1550del - r.(?) p.(Leu517*) g.88512493del g.88118716del - - CEP290_000029 copied from CEP290 database - - rs62640579 Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.1558T>C benign, likely benign r.(?) p.(Phe520Leu) g.88512485A>G - CEP290:c.1558T>C (F520L), CEP290:NM_025114.3:c.1558T>C - CEP290_000216 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 2 16 c.1593C>A - r.(?) p.(Tyr531*) g.88512450G>T g.88118673G>T - - CEP290_000004 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.1624-5T>C benign, likely benign r.spl? p.? g.88512352A>G - CEP290:c.1624-5T>C, CEP290:NM_025114.3:c.1624-5T>C - CEP290_000215 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 1 17 c.1645C>T - r.(?) p.(Arg549*) g.88512326G>A g.88118549G>A - - CEP290_000033 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+?/. 1 17 c.1657del - r.(?) p.(Ile556Phefs*17) g.88512314del g.88118537del - - CEP290_000144 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 5 17, 16 c.1666del pathogenic r.(?) p.(Ile556Phefs*17) g.88512305del g.88118528del CEP290:NM_025114.3:c.1666del (Ile556fs), CEP290:c.1666delA (I556Ffs*17) - CEP290_000030 copied from CEP290 database, VKGL data sharing initiative Nederland; correct HGVS to be checked Sharon, submitted - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, Dror Sharon, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/. 1 17 c.1682_1683del - r.(?) p.(Gln561Argfs*14) g.88512288_88512289del g.88118511_88118512del - - CEP290_000031 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1709C>G - r.(?) p.(Ser570*) g.88512262G>C g.88118485G>C - - CEP290_000032 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 17i c.1711+5A>G - r.spl? p.? g.88512255T>C g.88118478T>C - - CEP290_000116 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.1729C>T likely benign r.(=) p.(=) g.88510905G>A - CEP290:c.1729C>T (=) - CEP290_000210 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
+/. 1 18 c.1824G>A - r.(?) p.(=) g.88510810C>T g.88117033C>T - - CEP290_000034 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
-/. 1 18i c.1825-14_1825-13del - r.(spl?) p.(?) g.88508972_88508973del g.88115195_88115196del - - CEP290_000006 predicted benign PubMed: Neveling 2012 - - Germline - - - - - Kornelia Neveling
+/. 1 19 c.1859_1862del - r.(?) p.(Arg621Ilefs*2) g.88508922_88508925del g.88115145_88115148del - - CEP290_000036 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/., +/+ 2 19 c.1860_1861del - r.(?), r.(1860_1861del) p.(Asp622Phefs*5) g.88508923_88508924del g.88115146_88115147del c.1860_1861delAA: p.Glu620GlufsX7 - CEP290_000035 copied from CEP290 database, 1 MKS4 family of undetermined ethnicity (com-het) PubMed: Baala 2007 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/. 1 19i c.1910-2A>C - r.spl p.? g.88508341T>G g.88114564T>G - - CEP290_000117 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 20 c.1936C>T - r.(?) p.(Gln646*) g.88508313G>A g.88114536G>A - - CEP290_000039 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 20 c.1975A>T - r.(?) p.(Lys659*) g.88508274T>A g.88114497T>A - - CEP290_000152 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
+/., +/+ 2 20 c.1984C>T - r.(?), r.(1984c>u) p.(Gln662*) g.88508265G>A g.88114488G>A 1984C>T: p.Gln662X; p.Q662X - CEP290_000040 copied from CEP290 database, 1 more item PubMed: Baala et al. 2007, PubMed: Tallila et al. 2008, PubMed: Travaglini et al. 2009 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
+/. 1 20 c.1985A>T - r.(?) p.(Gln662Leu) g.88508264T>A g.88114487T>A - - CEP290_000037 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 20 c.1991A>G - r.(?) p.(Asp664Gly) g.88508258T>C g.88114481T>C - - CEP290_000007 predicted to affect function, but insufficient evidence for definite conclusion, 1 more item PubMed: Neveling 2012 - - Germline - - - - - Kornelia Neveling, Johan den Dunnen
+/. 1 20 c.1992del - r.(?) p.(Pro665Leufs*10) g.88508257del g.88114480del - - CEP290_000038 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
-/. 1 20i c.2052+30del - r.? p.? g.88508167del g.88114390del - - CEP290_000118 copied from CEP290 database - - rs11358611 Germline - - - - - Johan den Dunnen
-/. 3 21 c.2055T>C benign r.(?), r.(=) p.(=) g.88505633A>G g.88111856A>G CEP290:c.2055T>C (=), CEP290:NM_025114.3:c.2055T>C (Ala685Ala) - CEP290_000041 copied from CEP290 database, VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 21 c.2118_2122dup - r.(?) p.(Thr709Serfs*9) g.88505566_88505570dup g.88111789_88111793dup - - CEP290_000042 copied from CEP290 database - - rs62640580 Germline - - - - - Johan den Dunnen
-/. 1 21i c.2217+45T>C - r.? p.? g.88505426A>G g.88111649A>G - - CEP290_000121 copied from CEP290 database - - rs45461003 Germline - - - - - Johan den Dunnen
+/. 1 21i_22 c.2218-15_2220del - r.spl p.? g.88505126_88505143del g.88111349_88111366del - - CEP290_000043 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 2 21i_22 c.2218-4_2222del - r.spl p.? g.88505124_88505132del g.88111347_88111355del - - CEP290_000119 copied from CEP290 database OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 1 21i c.2218-2A>C - r.spl p.? g.88505130T>G g.88111353T>G - - CEP290_000120 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 2 22 c.2249T>G - r.(?) p.(Leu750*) g.88505097A>C g.88111320A>C - - CEP290_000047 copied from CEP290 database OMIM:var0006 - - Germline - - - - - Johan den Dunnen
+/. 3 22 c.2251C>T pathogenic r.(?) p.(Arg751*) g.88505095G>A g.88111318G>A CEP290:NM_025114.3:c.2251C>T (Arg751*), CEP290:c.2251C>T (R751*) - CEP290_000046 copied from CEP290 database, VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 2 - c.2268A>G benign r.(=) p.(=) g.88505078T>C - CEP290:c.2268A>G (=) - CEP290_000206 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 22 c.2268G>A - r.(?) p.(=) g.88505078C>T g.88111301C>T - - CEP290_000045 copied from CEP290 database - - rs2468255 Germline - - - - - Johan den Dunnen
?/. 1 22 c.2343T>C - r.(?) p.(=) g.88505003A>G g.88111226A>G - - CEP290_000044 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
-?/. 3 - c.2484-7_2484-6insTTTTG likely benign r.spl? p.? g.88500881_88500882insCAAAA - CEP290:c.2484-4_2484-3insGTTTT - CEP290_000204 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Utrecht, VKGL-NL_Groningen
-/. 3 24 c.2512A>G benign r.(?) p.(Lys838Glu) g.88500847T>C g.88107070T>C CEP290:NM_025114.3:c.2512A>G (Lys838Glu), CEP290:c.2512A>G (K838E) - CEP290_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked, copied from CEP290 database - - rs11104738 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_Rotterdam
./. 1 - c.2615C>T - r.(?) p.(Ser872Leu) g.88500654G>A g.88106877G>A - - CEP290_000150 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 25 c.2695C>T - r.(?) p.(Gln899*) g.88500574G>A g.88106797G>A - - CEP290_000049 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
?/. 1 25 c.2717T>G - r.(?) p.(Leu906Trp) g.88500552A>C g.88106775A>C - - CEP290_000050 copied from CEP290 database - - rs7970228 Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.2827A>G benign, likely benign r.(?) p.(Ile943Val) g.88496779T>C - CEP290:c.2827A>G (I943V), CEP290:NM_025114.3:c.2827A>G - CEP290_000199 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 1 26 c.2906dup - r.(?) p.(Tyr969*) g.88496700dup g.88102923dup - - CEP290_000051 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 6 26i c.2991+1655A>G pathogenic r.(=), r.(?) p.(=), p.(Cys998*) g.88494960T>C g.88101183T>C CEP290:c.2991+1655A>G, CEP290:NM_025114.3:c.2991+1655A>G - CEP290_000002, CEP290_000122 VKGL data sharing initiative Nederland; correct HGVS to be checked, copied from CEP290 database OMIM:var0005, PubMed: Littink Karin 2010 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 27 c.3043G>T - r.(?) p.(Glu1015*) g.88490725C>A g.88096948C>A - - CEP290_000052 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 27i c.3104-2A>G - r.spl p.? g.88487754T>C g.88093977T>C - - CEP290_000123 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 27i c.3104-1G>A - r.spl p.? g.88487753C>T g.88093976C>T - - CEP290_000124 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 28 c.3175del - r.(?) p.(Ile1059*) g.88487681delT g.88093904delT - - CEP290_000053 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+ 1 28 c.3175delA - r.(3175dela) p.(Ile1059*) g.88487681delT g.88093904delT p.Ile1059X - CEP290_000053 1 Tunisian MKS4 family (hom) PubMed: Baala 2007 - - SUMMARY record yes - - - - Anne Polvi
+/., +?/. 2 28 c.3175dup - r.(?) p.(Ile1059Asnfs*11) g.88487681dup g.88093904dup - - CEP290_000055 copied from CEP290 database - - rs62640570, rs6264057 Germline, Unknown ? - - - - Johan den Dunnen, Sanne Savelberg
+/. 1 28 c.3176del - r.(?) p.(Ile1059Lysfs*6) g.88487680del g.88093903del - - CEP290_000056 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/., +?/. 4 - c.3177dup pathogenic, likely pathogenic r.(?) p.(Thr1060Asnfs*10) g.88487679dup - CEP290:c.3175dupA (I1059Nfs*11) - CEP290_000194 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Groningen
+/. 1 28 c.3292G>T - r.(?) p.(Glu1098*) g.88487564C>A g.88093787C>A - - CEP290_000054 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 28i c.3310-1G>C - r.spl p.? g.88486610C>G g.88092833C>G - - CEP290_000126 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 28i_29 c.3310-1_3310delinsAA - r.spl p.? g.88486609_88486610delinsTT g.88092832_88092833delinsTT - - CEP290_000125 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 29 c.3422dup - r.(?) p.(Leu1141Phefs*5) g.88486497dup g.88092720dup - - CEP290_000057 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/+ 1 29 c.3446_3447del - r.(3446_3447delaa) p.(Lys1149Serfs*2) g.88486472_88486473del g.88092695_88092696del c.3446_3447delAA: p.Lys1149fs - CEP290_000146 1 Finnish MKS4 family (com-het) PubMed: Tallila 2008 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 30 c.3559delC - r.(?) p.(Leu1187Cysfs*2) g.88484519delG g.88090742delG - - CEP290_000008 - PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
-/. 2 - c.3574-9del benign r.(=) p.(=) g.88483273del - CEP290:c.3574-9delT, CEP290:NM_025114.3:c.3574-9del - CEP290_000268 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 31 c.3793C>T - r.(?) p.(Gln1265*) g.88483045G>A g.88089268G>A - - CEP290_000062 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 3 31 c.3811C>T pathogenic r.(?) p.(Arg1271*) g.88483027G>A g.88089250G>A CEP290:c.3811C>T (R1271*) - CEP290_000058 copied from CEP290 database, VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_VUmc, VKGL-NL_Groningen
+/. 1 31 c.3814C>T - r.(?) p.(Arg1272*) g.88483024G>A g.88089247G>A - - CEP290_000061 copied from CEP290 database - - rs62640581 Germline - - - - - Johan den Dunnen
+?/. 1 - c.3894dup ACMG 4 r.(?) p.(Lys1299*) g.88482944dup g.88089167dup - - CEP290_000153 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/. 1 31 c.3922C>T - r.(?) p.(Gln1308*) g.88482916G>A g.88089139G>A - - CEP290_000063 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 31 c.4001del - r.(?) p.(Thr1334Ilefs*2) g.88482837del g.88089060del - - CEP290_000060 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
+/. 1 31 c.4028del - r.(?) p.(Lys1343Argfs*2) g.88482810del g.88089033del - - CEP290_000059 copied from CEP290 database - - - Germline - - - - - Johan den Dunnen
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