Full data view for gene RPL11

Information The variants shown are described using the NM_000975.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-2)_(6+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_24018312)_(24018321_?)del - - - RPL11_000004 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel1 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_24018269)_(24022915_?)del - - - RPL11_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA031 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.6+2T>C r.spl p.? Parent #1 - pathogenic (dominant) g.24018321T>C g.23691831T>C - - RPL11_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA009 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.6+2T>C r.spl p.? Parent #1 - pathogenic (dominant) g.24018321T>C g.23691831T>C - - RPL11_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA093 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1i c.6+2T>C r.spl p.? Unknown - pathogenic (dominant) g.24018321T>C g.23691831T>C IVS1 +2t>c - RPL11_000005 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat27 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.6+3G>C r.spl p.? Parent #1 - pathogenic (dominant) g.24018322G>C g.23691832G>C - - RPL11_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA178 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-?/. - c.6+14A>G r.(=) p.(=) Unknown - likely benign g.24018333A>G - RPL11(NM_000975.5):c.6+14A>G - RPL11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7-20G>T r.(=) p.(=) Unknown - likely benign g.24019079G>T - RPL11(NM_000975.5):c.7-20G>T - RPL11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_7-2)_(157+2_?)del r.? p.? Unknown - likely pathogenic g.(?_24019097)_(24019251_?)del - - - RPL11_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel2 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_7-2)_(157+2_?)del r.? p.? Unknown - likely pathogenic g.(?_24019097)_(24019251_?)del - - - RPL11_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel3 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.30C>T r.(?) p.(Asn10=) Unknown - likely benign g.24019122C>T g.23692632C>T RPL11(NM_000975.5):c.30C>T (p.N10=) - RPL11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>T r.(?) p.(Asn10=) Unknown - likely benign g.24019122C>T - RPL11(NM_000975.5):c.30C>T (p.N10=) - RPL11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.58_59del r.(?) p.(Cys21SerfsTer33) Unknown - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 58_59delCT - RPL11_000037 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat9 PubMed: Konno 2010 - F - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.59T>A r.59u>a p.(Leu20His) Unknown - pathogenic (dominant) g.24019151T>A g.23692661T>A - - RPL11_000036 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH09 PubMed: Cmejla 2009 - F - Czech Republic - - - - - 1 Johan den Dunnen
+/. 2 c.60_61del r.(?) p.(Cys21SerfsTer33) Maternal (confirmed) - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 60_61 delCT - RPL11_000037 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat20 PubMed: Gazda 2008 2-generation family, 1 affected, carrier mother/grandmother F - - - - - - - 1 Johan den Dunnen
+/. 2 c.60_61del r.(?) p.(Cys21SerfsTer33) Maternal (confirmed) - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 60_61 delCT - RPL11_000037 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat20mother PubMed: Gazda 2008 mother F - - - - - - - 1 Johan den Dunnen
+/. 2 c.60_61del r.(?) p.(Cys21SerfsTer33) Unknown - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 60_61 delCT - RPL11_000037 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat20grandmother PubMed: Gazda 2008 grandmother F - - - - - - - 1 Johan den Dunnen
+/. 2 c.60_61del r.(?) p.(Cys21SerfsTer33) Unknown - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 60_61delCT - RPL11_000037 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL11-Pat1 PubMed: Quarello 2010 - F - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.60_61del r.(?) p.(Cys21SerfsTer33) Maternal (confirmed) - pathogenic (dominant) g.24019152_24019153del g.23692662_23692663del 60_61delCT - RPL11_000037 - PubMed: Quarello 2010 - - Germline - - - - - DNA SEQ - - DBA RPL11-Pat2 PubMed: Quarello 2010 2-generation family, affected mother/daughter F - Italy - - - - - 2 Johan den Dunnen
+/. - c.62_63del r.(?) p.(Cys21Serfs*33) Parent #1 - pathogenic (dominant) g.24019154_24019155del g.23692664_23692665del g.24019153_24019154del - RPL11_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA070 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.74del r.(?) p.(Cys25LeufsTer9) Unknown - pathogenic (dominant) g.24019166del g.23692676del 74delG - RPL11_000038 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat3 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - Italy - - - - - 1 Johan den Dunnen
+/. - c.94A>T r.(?) p.(Arg32*) Parent #1 - pathogenic (dominant) g.24019186A>T g.23692696A>T - - RPL11_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA010 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.94_97del r.(?) p.(Arg32*) Parent #1 - pathogenic (dominant) g.24019186_24019189del g.23692696_23692699del g.24019182_24019185del - RPL11_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA312 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.94_97del r.(?) p.(Arg32Ter) Unknown - pathogenic (dominant) g.24019186_24019189del g.23692696_23692699del 94_97 delAGAC - RPL11_000010 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat21 PubMed: Gazda 2008 - F - - - - - - - 1 Johan den Dunnen
+/. 2 c.95_96del r.(?) p.(Arg32ThrfsTer22) Unknown - pathogenic (dominant) g.24019187_24019188del g.23692697_23692698del 95_96delGA - RPL11_000039 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL11-Pat4 PubMed: Quarello 2010 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.100dup r.(?) p.(Thr34Asnfs*21) Parent #1 - pathogenic (dominant) g.24019192dup g.23692702dup - - RPL11_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA363 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.100dup r.(?) p.(Thr34AsnfsTer21) Unknown - pathogenic (dominant) g.24019192dup g.23692702dup 100_101dupA - RPL11_000011 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl11_1 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.124C>T r.(?) p.(Gln42*) Parent #1 - pathogenic (dominant) g.24019216C>T g.23692726C>T - - RPL11_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA053 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2_2i c.143_157+32del r.7_157del p.? Unknown - pathogenic (dominant) g.24019235_24019281del g.23692745_23692791del - - RPL11_000040 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL11-Pat5 PubMed: Quarello 2010 - F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.153C>T r.(?) p.(=) Unknown - likely benign g.24019245C>T - RPL11(NM_000975.5):c.153C>T (p.(Ser51=)) - RPL11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.157+1_157+16del r.7_157del p.? Unknown - pathogenic (dominant) g.24019250_24019265del g.23692760_23692775del - - RPL11_000041 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat6 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.158-18G>C r.(=) p.(=) Unknown - likely benign g.24020279G>C - RPL11(NM_000975.5):c.158-18G>C - RPL11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.158-2A>C r.spl p.? Parent #1 - pathogenic (dominant) g.24020295A>C g.23693805A>C - - RPL11_000013 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA127 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2i c.158-2A>C r.spl p.0? Unknown - pathogenic (dominant) g.24020295A>C g.23693805A>C - - RPL11_000013 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl11_3 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.158-1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.24020296G>A g.23693806G>A - - RPL11_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA332 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.158-1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.24020296G>A g.23693806G>A - - RPL11_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA339 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2i c.158-1G>A r.spl p.? Unknown - pathogenic (dominant) g.24020296G>A g.23693806G>A IVS2 -1g>a - RPL11_000014 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat28 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - - - - - - - 1 Johan den Dunnen
+/. 2i c.158-1G>A r.spl p.? Unknown - pathogenic (dominant) g.24020296G>A g.23693806G>A IVS2 -1g>a - RPL11_000014 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat29 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. - c.160dup r.(?) p.(Arg54Lysfs*13) Parent #1 - pathogenic (dominant) g.24020299dup g.23693809dup g.24020298_24020299insA - RPL11_000015 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA085 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.160dup r.(?) p.(Arg54LysfsTer13) Unknown - pathogenic (dominant) g.24020299dup g.23693809dup 160_161 insA - RPL11_000015 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat22 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. - c.164dup r.(?) p.(Tyr55*) Parent #1 - pathogenic (dominant) g.24020303dup g.23693813dup g.24020302_24020303insA - RPL11_000016 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA255 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.198_202del r.(?) p.(Glu66AspfsTer26) Unknown - pathogenic (dominant) g.24020337_24020341del g.23693847_23693851del 198_202delAAAGA - RPL11_000042 - PubMed: Quarello 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA RPL11-Pat7 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier mother F - Italy - - - - - 1 Johan den Dunnen
+/. - c.218C>T r.(?) p.(Thr73Ile) Parent #1 - pathogenic (dominant) g.24020357C>T g.23693867C>T - - RPL11_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA179 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.223C>T r.(?) p.(Arg75*) Parent #1 - pathogenic (dominant) g.24020362C>T g.23693872C>T - - RPL11_000018 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA329 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.223C>T r.(?) p.(Arg75Ter) Unknown - pathogenic (dominant) g.24020362C>T g.23693872C>T - - RPL11_000018 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat19 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 3 Johan den Dunnen
+/. - c.290del r.(?) p.(Asn97Thrfs*?) Parent #1 - pathogenic (dominant) g.24021175del g.23694685del - - RPL11_000020 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA362 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4 c.290del r.(?) p.(Asn97ThrfsTer97) Unknown - pathogenic (dominant) g.24021175del g.23694685del 290 delA - RPL11_000020 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat23 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.290del r.(?) p.(Asn97ThrfsTer97) Unknown - likely pathogenic g.24021175del - - - RPL11_000020 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.290dup r.(?) p.(Asn97Lysfs*24) Parent #1 - pathogenic (dominant) g.24021175dup g.23694685dup g.24021169_24021170insA - RPL11_000019 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA036 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4 c.291_302del r.(?) p.(Asn98_Asp101del) Unknown - pathogenic (dominant) g.24021176_24021187del g.23694686_23694697del - - RPL11_000043 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat8 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Italy - - - - - 1 Johan den Dunnen
+/. - c.293del r.(?) p.(Asn98Thrfs*?) Parent #1 - pathogenic (dominant) g.24021178del g.23694688del g.24021177del - RPL11_000021 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA361 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4 c.293dup r.(?) p.(Asn98LysfsTer23) Unknown - pathogenic (dominant) g.24021178dup g.23694688dup 291_292 insA - RPL11_000044 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat24 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.314_315del r.(?) p.(Phe105Trpfs*15) Parent #1 - pathogenic (dominant) g.24021199_24021200del g.23694709_23694710del g.24021198_24021199del - RPL11_000022 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA306 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.314_315del r.(?) p.(Phe105Trpfs*15) Parent #1 - pathogenic (dominant) g.24021199_24021200del g.23694709_23694710del g.24021198_24021199del - RPL11_000022 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA364 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4 c.314_315del r.(?) p.(Phe105TrpfsTer15) Unknown - pathogenic (dominant) g.24021199_24021200del g.23694709_23694710del 314_315 delTT - RPL11_000022 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat25 PubMed: Gazda 2008 2-generation family, 1 affected, carrier son M - - - - - - - 2 Johan den Dunnen
+/. 4 c.314_315del r.(?) p.(Phe105TrpfsTer15) Paternal (confirmed) - pathogenic (dominant) g.24021199_24021200del g.23694709_23694710del 314_315 delTT - RPL11_000022 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat25son PubMed: Gazda 2008 son M - - - - - - - 1 Johan den Dunnen
+/. 4 c.314_315del r.(?) p.(Phe105TrpfsTer15) Unknown - pathogenic (dominant) g.24021199_24021200del g.23694709_23694710del 314_315delTT - RPL11_000022 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat9 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - 1 Johan den Dunnen
-?/. - c.339C>T r.(?) p.(Ile113=) Unknown - likely benign g.24021224C>T g.23694734C>T RPL11(NM_000975.3):c.339C>T (p.(Ile113=)) - RPL11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.357T>G r.(?) p.(Tyr119Ter) Unknown - pathogenic (dominant) g.24021242T>G g.23694752T>G - - RPL11_000045 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH37 PubMed: Cmejla 2009 - F - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Val132Ala) Parent #1 - pathogenic (dominant) g.24021280T>C g.23694790T>C - - RPL11_000023 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA134 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.396+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.24021282G>A g.23694792G>A - - RPL11_000025 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA140 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.396+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.24021282G>A g.23694792G>A - - RPL11_000025 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA141 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 4i c.396+1G>A r.spl p.? Unknown - pathogenic (dominant) g.24021282G>A g.23694792G>A IVS4 +1g> - RPL11_000025 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat30 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - - - - - - - 1 Johan den Dunnen
+/. 4i c.396+1G>A r.spl p.? Unknown - pathogenic (dominant) g.24021282G>A g.23694792G>A IVS4 +1g> - RPL11_000025 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat31mother PubMed: Gazda 2008 mother F - - - - - - - 1 Johan den Dunnen
+/. - c.396+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.24021282G>T g.23694792G>T - - RPL11_000024 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA038 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4i c.396+1G>T r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.24021282G>T g.23694792G>T IVS4 +1g> - RPL11_000024 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat31 PubMed: Gazda 2008 2-generation family, 1 affected, carrier mother M - - - - - - - 2 Johan den Dunnen
+/. - c.396+3A>G r.spl p.? Parent #1 - pathogenic (dominant) g.24021284A>G g.23694794A>G - - RPL11_000026 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA252 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_397-2)_(507+2_?)del r.? p.? Unknown - likely pathogenic g.(?_24022286)_(24022400_?)del - - - RPL11_000027 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel4 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
./. - c.437G>A r.(?) p.(Arg146His) Unknown - likely pathogenic g.24022328G>A g.23695838G>A NM_000975.3(RPL11):c.437G>A p.(Arg146His) - RPL11_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-755A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. 5 c.460del r.(?) p.(Lys154AsnfsTer40) Unknown - pathogenic (dominant) g.24022353del g.23695863del 460delA - RPL11_000046 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat23 PubMed: Konno 2010 - M - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.465_466del r.(?) p.(His155GlnfsTer16) Unknown - pathogenic (dominant) g.24022356_24022357del g.23695866_23695867del 465_466delCA - RPL11_000047 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat10 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.465_475dup r.(?) p.(Lys159Thrfs*39) Parent #1 - pathogenic (dominant) g.24022356_24022366dup g.23695866_23695876dup 24022353_24022354insCACAGAATCAG - RPL11_000029 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA121 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 5 c.465_475dup r.(?) p.(Lys159ThrfsTer39) Unknown - pathogenic (dominant) g.24022356_24022366dup g.23695866_23695876dup 475_476ins10 - RPL11_000029 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl11_2 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.467_468del r.(?) p.(Arg156Asnfs*15) Parent #1 - pathogenic (dominant) g.24022358_24022359del g.23695868_23695869del g.24022357_24022358del - RPL11_000028 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA019 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 5 c.469del r.(?) p.(Ile157SerfsTer37) Unknown - pathogenic (dominant) g.24022360del g.23695870del 469delA - RPL11_000048 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL11-Pat11 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - Italy - - - - - 1 Johan den Dunnen
+/. - c.477del r.(?) p.(Glu160Argfs*?) Parent #1 - pathogenic (dominant) g.24022368del g.23695878del g.24022366del - RPL11_000030 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA253 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.482_484del r.(?) p.(Glu161del) Parent #1 - pathogenic (dominant) g.24022373_24022375del g.23695883_23695885del g.24022369_24022371del - RPL11_000031 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA064 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 5 c.482_484del r.(?) p.(Glu161del) Maternal (confirmed) - pathogenic (dominant) g.24022373_24022375del g.23695883_23695885del 482_484 delAGG - RPL11_000031 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat26 PubMed: Gazda 2008 2-generation family, 1 affected, carrier mother F - - - - - - - 2 Johan den Dunnen
+/. 5 c.482_484del r.(?) p.(Glu161del) Unknown - pathogenic (dominant) g.24022373_24022375del g.23695883_23695885del 482_484 delAGG - RPL11_000031 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat26mother PubMed: Gazda 2008 mother F - - - - - - - 1 Johan den Dunnen
+/. - c.508-9_508-5del r.spl p.? Parent #1 - pathogenic (dominant) g.24022825_24022829del g.23696335_23696339del g.24022819_24022823del - RPL11_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA041 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.508-9_508-5del r.spl p.? Parent #1 - pathogenic (dominant) g.24022825_24022829del g.23696335_23696339del g.24022819_24022823del - RPL11_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA291 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
?/. - c.508-9_508-5del r.spl? p.? Unknown - VUS g.24022825_24022829del - RPL11(NM_000975.3):c.508-9_508-5delCTCTT (p.?) - RPL11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508-3C>A r.spl p.? Parent #1 - pathogenic (dominant) g.24022831C>A g.23696341C>A - - RPL11_000032 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA274 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 5i c.508-2A>G r.spl p.? Paternal (confirmed) - pathogenic (dominant) g.24022832A>G g.23696342A>G - - RPL11_000049 - PubMed: Quarello 2010 - - Germline - - - - - DNA SEQ - - DBA RPL11-Pat12 PubMed: Quarello 2010 2-generation family, affected father/daughter F - Italy - - - - - 2 Johan den Dunnen
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