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LOVD - Variant listings for RB1

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1753 entries
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g-position Hide g-position column Descending
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cDNA change   Descending
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Type Hide Type column Descending
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Exon Hide Exon column Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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RBWiki Hide RBWiki column Descending
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expected consequence type Hide expected consequence type column Descending
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DB-ID Hide DB-ID column Descending
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originated_in Hide originated_in column Descending
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g.2197G>A c.137+1G>A substitution 01_in altered splicing - - splice RB1_01250 -
g.2197G>T c.137+1G>T
  (Reported 3 times)		 substitution 01_in altered splicing - - splice RB1_00435 -
g.2198T>A c.137+2T>A substitution 01_in altered splicing - - splice RB1_00923 -
g.2201G>C c.137+5G>C Substitution 01_in splice - - splice RB1_01588 germline
g.2281C>T c.137+85C>T substitution 01_in - variant - variant RB1_01095 unknown
g.2302G>A c.137+106G>A
  (Reported 3 times)		 substitution 01_in - variant - variant RB1_00986 -
g.2302G>T c.137+106G>T substitution 01_in - variant - variant RB1_00574 -
g.5300C>T c.138-124C>T substitution 01_in - variant - variant RB1_01003 -
g.5383_5378del c.138-41_138-36del Deletion 01_in - - - unknown RB1_01825 unknown
g.5388_5393del c.138-36_138-31del deletion 01_in - variant - variant RB1_01004 -
g.5411_5425del c.138-13_139del deletion 01_in altered splicing - - splice RB1_00332 germline
g.5416T>G c.138-8T>G substitution 01_in altered splicing - - splice RB1_01251 -
g.5422A>G c.138-2A>G
  (Reported 3 times)		 substitution 01_in altered splicing - - splice RB1_00460 -
g.5423del c.138-1del complex 01_in altered splicing - - splice RB1_00244 germline
g.5423G>A c.138-1G>A
  (Reported 2 times)		 substitution 01_in altered splicing - - splice RB1_00968 -
g.2297G>A c.2196+2G>A Substitution 01_in - - - unknown RB1_01793 somatic
g.39437T>A c265-9T>A Substitution 02_in c.264_265insTTCCCAG - - frameshift RB1_02054 germline
g.5423_5550del c.138_264del Deletion 02_ex - p.Leu47Glufs*22 - nonsense RB1_01522 somatic
- c.142_170del Deletion 2 - p.(Glu48Tyrfs*52) - frameshift RB1_01958 germline
g.5437G>T c.151G>T Substitution 02_ex Stop gained p.Glu51X - unknown RB1_01493 somatic
g.5438delA c.152delA Deletion 02_ex - - - frameshift RB1_01590 germline
g.5440del c.154del deletion 02_ex - p.Thr52Glnfs*13 - frameshift RB1_00649 unknown
g.5441_5442dup c.155_156dup
  (Reported 2 times)		 insertion 02_ex - p.Glu53Glnfs*13 - frameshift RB1_00577 unknown
g.5446G>T c.160G>T
  (Reported 5 times)		 substitution 02_ex - p.Glu54X - nonsense RB1_00281 -
g.5447A>G c.161A>G Substitution 02_ex - p.Glu54Gly Glu54Gly unknown RB1_01446 -
- c.171dup Duplication 02_ex - p.Thr58Tyrfs*52 - frameshift RB1_01964 somatic
g.5459C>T c.173C>T Substitution 02_ex - p.Thr58Ile - unknown RB1_01566 germline
- c.174_175del Deletion 02_ex - p.Ala59Ilefs*50 - frameshift RB1_01965 germline
g.5461G>C c.175G>C Substitution 02_ex - p.Ala59Pro - unknown RB1_01567 somatic
g.5463A>T c.177A>T Substitution 02_ex - - - unknown RB1_01821 somatic
g.5463_5464insT c.177_178insT Substitution 02_ex - - - frameshift RB1_01789 somatic
g.5464_5471del c.178_185del Deletion 2_ex - p.(Leu60Glufs*47) - frameshift RB1_02022 germline
- c.179T>A Substitution 2_ex - p.(Leu60*) - nonsense RB1_01957 germline
g.5466dup c.180dup insertion 02_ex - - - - RB1_00937 -
g.5469T>A c.183T>A Substitution 02_ex Stop gained p.Cys61X - unknown RB1_01494 somatic
g.5470C>T c.184C>T
  (Reported 2 times)		 substitution 02_ex - p.Gln62X - nonsense RB1_00027 -
g.5476_5479dup c.187_190dup Insertion 2_ex - p.(Leu64*) - unknown RB1_02023 germline
g.5473_5491delins9 c.187_205delins9 complex 02_ex RT-PCR 63X - frameshift RB1_01138 germline
g.5477T>G c.191T>G substitution 02_ex - p.Leu64X - nonsense RB1_00650 -
g.5479_5480delAA c.193_194delAA Deletion 02_ex - - - frameshift RB1_01698 somatic
g.5480dup c.194dup insertion 02_ex - p.Ile66Aspfs*44 - frameshift RB1_00028 unknown
g.5481_5482del c.195_196del deletion 02_ex - p.Lys65Asnfs*44 - frameshift RB1_00029 unknown
g.5483insA c.197insA Insertion 02_ex - - - frameshift RB1_01589 germline
g.5483_5484dup c.197_198dup insertion 02_ex - p.Pro67Tyrfs*11 - frameshift RB1_00565 unknown
g.5484dup c.198dup
  (Reported 2 times)		 insertion 02_ex - - - - RB1_00838 -
g.5486del c.200del Deletion 2_ex - p.(Pro67Glnfs*10) - frameshift RB1_02024 germline
g.5489del c.203del deletion 02_ex - p.Asp68Valfs*9 - frameshift RB1_00030 unknown
g.5492del c.206del deletion 02_ex - p.His69Leufs*8 - frameshift RB1_00423 somatic
g.5493dup c.207dup insertion 02_ex - p.Val70Cysfs*40 - frameshift RB1_01203 unknown
g.5493T>C c.207T>C Substitution 02_ex - p.His69His - unknown RB1_01754 germline
g.5494_5495del c.208_209del Deletion 02_ex - - - frameshift RB1_01592 germline
g.5495_5496del c.209_210del deletion 02_ex - p.Val70Glufs*39 - frameshift RB1_00031 unknown
g.5496insG c.210_211insG
  (Reported 2 times)		 insertion 02_ex - p.Arg71Glufs*39 - frameshift RB1_00032 unknown
g.5497A>T c.211A>T substitution 02_ex - p.Arg71X - nonsense RB1_01148 -
g.5500G>C c.214G>C substitution 02_ex - p.Glu72Gln - missense RB1_00033 -
g.5500G>T c.214G>T
  (Reported 2 times)		 substitution 02_ex - p.Glu72X - nonsense RB1_00977 -
g.5502_5506del c.216_220del deletion 02_ex - p.Glu72Aspfs*36 - frameshift RB1_00845 unknown
g.5502_5506delinsT c.216_220delinsT Other/Complex 02_ex - - - frameshift RB1_01591 germline
g.5503_5506del c.217_220del deletion 02_ex - p.Arg73Leufs*3 - frameshift RB1_00530 unknown
g.5504_5505del c.218_219del deletion 02_ex - - - frameshift RB1_00846 -
g.5505_5506del c.219_220del
  (Reported 6 times)		 deletion 02_ex - p.Arg73Serfs*36 - frameshift RB1_00772 unknown
g.5505_5506dup c.219_220dup
  (Reported 4 times)		 insertion 02_ex - p.Ala74Glufs*4 - frameshift RB1_00513 unknown
g.5506insAG c.220_221del deletion 02_ex - p.Ala74Leufs*35 - frameshift RB1_00321 germline
g.5506_5507dup c.220_221dup Insertion 2_ex - p.(Trp75Leufs*3) - frameshift RB1_02025 germline
g.5510G>A c.224G>A
  (Reported 5 times)		 substitution 02_ex - p.Trp75X - nonsense RB1_00494 -
g.5511del c.225del deletion 02_ex - p.Trp75Cysfs*2 - frameshift RB1_00034 unknown
g.5511G>A c.225G>A
  (Reported 2 times)		 Substitution 02_ex Stop gained p.Trp75X - unknown RB1_01495 somatic
g.5513delT c.227delT Deletion 02_ex - p.(Leu76*) - nonsense RB1_01521 somatic
g.5515del c.229del deletion 02_ex - p.Thr77Leufs*34 - frameshift RB1_00035 unknown
g.5518delT c.232delT Deletion 02_ex - - - frameshift RB1_01594 germline
g.5520G>A c.234G>A Substitution 02_ex Stop gained p.Trp78X - unknown RB1_01496 somatic
g.5521G>T c.235G>T Substitution 02_ex Stop gained p.Glu79X - unknown RB1_01497 somatic
g.5524A>G c.238A>G Substitution 02_ex - p.Lys80Glu Lys80Glu unknown RB1_01449 -
g.5525_5526del c.239_240del Deletion 2_ex - p.(Lys80Serfs*29) - frameshift RB1_02026 germline
g.5526del c.240del deletion 02_ex - - - nonsense RB1_00465 germline
g.5527del c.241del deletion 02_ex - p.Val81Phefs*30 - frameshift RB1_01211 unknown
g.5531C>A c.245C>A
  (Reported 3 times)		 substitution 02_ex - p.Ser82X - nonsense RB1_00036 -
g.5534del c.248del Deletion 2_ex - p.(Ser83Leufs*28) - frameshift RB1_02027 germline
g.5539del c.253del Deletion 2_ex - p.(Asp85Metfs*26) - frameshift RB1_02028 germline
g.5545_5546insA c.259_260insA Insertion 02_ex - - - unknown RB1_01696 somatic
g.5550G>A c.264G>A
  (Reported 3 times)		 substitution 02_ex p.Leu88Leu/skip p.Leu88Leu/skip - splice RB1_00362 -
g.5551G>A c.264+1G>A
  (Reported 4 times)		 substitution 02_in skip exon 2 skip exon 2 - splice RB1_00788 -
g.5551G>C c.264+1G>C
  (Reported 2 times)		 substitution 02_in altered splicing - - splice RB1_00592 -
g.5551G>T c.264+1G>T
  (Reported 3 times)		 substitution 02_in altered splicing - - splice RB1_00350 -
g.5552T>C c.264+2T>C Substitution 02_in altered splicing - - unknown RB1_01474 somatic
g.5553A>C c.264+3A>C Substitution 02_in splice - - splice RB1_01593 germline
g.5554A>G c.264+4A>G Substitution 02_in - - - splice RB1_01466 germline
g.5554del c.264+4del
  (Reported 2 times)		 deletion 02_in altered splicing - - splice RB1_00737 -
g.5555G>A c.264+5G>A substitution 02_in skip exon 2 skip exon 2 - splice RB1_01149 -
g.5596dupA c.264+46dupA Substitution 02_in - - - unknown RB1_01826 unknown
g.5625T>C c.264+75T>C
  (Reported 4 times)		 substitution 02_in - variant - variant RB1_01005 -
g.16981G>T c.264+11431G>T substitution 02_in - variant - variant RB1_01077 -
g.17231G>A c.264+11681G>A substitution 02_in - variant - variant RB1_01078 -
g.39374A>G c.265-72A>G substitution 02_in - new splice acceptor - splice RB1_00789 -
g.39443del c.265-3del deletion 02_in altered splicing - - splice RB1_00186 -
g.39444A>G c.265-2A>G
  (Reported 4 times)		 substitution 02_in altered splicing - - splice RB1_00322 -
g.39445G>A c.265-1G>A Substitution 02_in altered splicing - - unknown RB1_01475 somatic
g.39445G>T c.265-1G>T Substitution 02_in altered splicing - - unknown RB1_01476 somatic
g.39446G>T c.265G>T Substitution 03_ex possibly skipping exon03 p.Gly89X - nonsense RB1_01416 -
g.39458C>T c.277C>T substitution 03_ex - p.Gln93X - nonsense RB1_01363 -
101 - 200
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin)

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