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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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Exon Hide Exon column Descending
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RNA change Hide RNA change 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.76929T>C c.1421+9T>C Substitution 15_in - - - unknown RB1_01840 somatic
g.76932_76952del c.1421+12_1421+32del deletion 15_in altered splicing - - splice RB1_00200 -
g.76938_76952del15 c.1421+18_1421+32del15 Deletion 15_in splice_donor - - splice RB1_01893 unknown
g.76938_76953del16 c.1421+18_1421+33del16 Deletion 15_in splice_donor - - splice RB1_01894 unknown
g.76938_76958del c.1421+18_1421+38del
  (Reported 3 times)		 deletion 15_in altered splicing - - splice RB1_00505 -
g.76940_76953del c.1421+20_1421+33del deletion 15_in altered splicing - - splice RB1_00487 -
g.76983T>C c.1422-18T>C substitution 15_in - unknown - - RB1_01308 -
g.76993del c.1422-8del
  (Reported 2 times)		 deletion 15_in - unkown - - RB1_01307 -
g.76999A>G c.1422-2A>G
  (Reported 4 times)		 substitution 15_in altered splicing - - splice RB1_00206 -
g.77000G>T c.1422-1 Substitution 15 - - - splice RB1_01536 germline
g.77000G>A c.1422-1G>A
  (Reported 3 times)		 substitution 15_in skip exon 16 skip exon 16 - splice RB1_00638 -
g.77000G>C c.1422-1G>C
  (Reported 2 times)		 substitution 15_in altered splicing - - splice RB1_00352 -
g.77002A>T c.1423A>T Substitution 16_ex - p.Lys475X - nonsense RB1_01729 somatic
g.77003ins10 c.1424_1425ins10
  (Reported 2 times)		 insertion 16_ex - 476X - frameshift RB1_00698 -
g.77014delG c.1435delG Substitution 16_ex - - - frameshift RB1_01784 germline
g.77018del c.1439del deletion 16_ex - p.Asn480Thrfs*15 - frameshift RB1_00779 unknown
g.77018dup c.1439dup
  (Reported 4 times)		 insertion 16_ex - p.Asn480Lysfs*13 - frameshift RB1_00103 unknown
g.77018_77020del c.1439_1441del
  (Reported 7 times)		 deletion 16_ex yes p.Ans480del - in-frame RB1_00102 -
g.77018_77019del c.1440_1441del
  (Reported 2 times)		 deletion 16_ex - p.Ile481Phefs*11 - frameshift RB1_00699 unknown
g.77019_77025dup c.1443_1449dup Insertion 16_ex - p.(Met484Phefs*11) - frameshift RB1_02068 germline
g.77024_77025del c.1445_1446del deletion 16_ex - p.(Phe482Serfs*10) - frameshift RB1_00104 unknown
g.77025dup c.1446dup insertion 16_ex - p.His483Serfs*10 - frameshift RB1_00317 germline
g.77026C>T c.1447C>T Substitution 16_ex - p.His483Tyr [His483Tyr] unknown RB1_01453 -
g.77026_77027delCA c.1447_1448del Deletion 16_ex - p.His483Tyrfs*9 - frameshift RB1_01556 somatic
g.77027delA c.1448del Deletion 16_ex - p.His483Leufs*12 - missense RB1_01776 germline
g.77026_77027insA c.1448dup
  (Reported 2 times)		 Insertion 16_ex - p.His483Glnfs*10 - frameshift RB1_01554 unknown
g.77027insT c.1448insT Insertion 16_ex - - - frameshift RB1_01627 germline
g.77028dup c.1449dup insertion 16_ex - p.Met484Tyrfs*9 - frameshift RB1_00820 unknown
g.77028T>G c.1449T>G substitution 16_ex - p.His483Gln - - RB1_01194 -
g.77029_77030del c.1450-1451del Deletion 16_in - p.Met484Valfs* - frameshift RB1_02012 somatic
g.77029_77030del c.1450_1451del
  (Reported 7 times)		 deletion 16_ex - p.Met484Valfs*8 - frameshift RB1_00105 unknown
g.77029_77030deldupAT c.1450_1451dupAT Duplication 16_ex - - - frameshift RB1_01736 somatic
g.77029insCATTTTT c.1450_1451insCATTTTT insertion 16_ex - p.Met484Thrfs*11 - frameshift RB1_01325 unknown
g.77030_77049delinsCA c.1451_1470delinsCA complex 16_ex - p.Ser485_Ala490del - in-frame RB1_00326 germline
g.77031_77032delGT c.1452_1453del Deletion 16_ex - p.Met484Ilefs*8 - frameshift RB1_01557 somatic
- c.1453_1456del Deletion 16_ex - p.Ser485Tyrfs*9 - frameshift RB1_01981 germline
g.77033C>T c.1454C>T Substitution 16_ex - p.(Ser485Phe) - missense RB1_01879 unknown
g.77033 c.1454del Deletion 16_ex - - - frameshift RB1_01388 -
g.77035_77036del c.1456_1457del
  (Reported 5 times)		 deletion 16_ex - p.Leu486Ilefs*6 - frameshift RB1_00324 unknown
g.77036ins35 c.1457_1458ns35 insertion 16_ex - 491X - frameshift RB1_00700 -
g.77036_77039del c.1457_1460del deletion 16_ex - p.Leu486Trpfs*8 - frameshift RB1_00106 unknown
g.77037del c.1458del deletion 16_ex - p.Leu486Phefs*9 - frameshift RB1_00286 germline
g.77041del c.1462del Deletion 16_ex - p.(Ala488Argfs*7) - frameshift RB1_02069 germline
g.77042C>A c.1463C>A substitution 16_ex - p.Ala488Glu - - RB1_01375 -
g.77042dup c.1463dup Insertion 16_ex - p.(Cys489Valfs*4) - frameshift RB1_02070 germline
g.77044T>C c.1465T>C substitution 16_ex - p.Cys489Arg - missense RB1_00249 germline
g.77045G>A c.1466G>A Substitution 16_ex - p.Cys489Tyr - missense RB1_01684 somatic
g.77046C>A c.1467C>A
  (Reported 4 times)		 substitution 16_ex - p.Cys489X - nonsense RB1_00107 -
- c.1468G>A Substitution 16_ex - p.(Ala490Thr) - missense RB1_02044 unknown
g.77047G>T c.1468G>T substitution 16_ex - p.Ala490Ser - missense RB1_00246 germline
g.77047_77048del c.1468_1469del
  (Reported 2 times)		 deletion 16_ex - - - frameshift RB1_01225 -
g.77050ins43 c.1471_1472ins43 insertion 16_ex - 498X - frameshift RB1_00701 -
g.77051T>C c.1472T>C
  (Reported 2 times)		 substitution 16_ex - p.Leu491Pro - missense RB1_00417 -
g.77054del c.1475del deletion 16_ex - p.Glu492Glyfs*3 - frameshift RB1_00247 germline
g.77058T>C c.1479T>C substitution 16_ex - p.Val493Val - - RB1_01329 -
g.77065_g.77066insT c.1486_1487insT Insertion 16_ex - p.Ala496Valfs*4 - frameshift RB1_01558 somatic
g.77065_77077delins4 c.1486_1499delins4 complex 16_ex - p.Ala496X - frameshift RB1_00596 -
g.77068del c.1489del Deletion 16_ex - p.(Thr497Hisfs*22) - frameshift RB1_02071 germline
g.77069_77070del c.1490_1491del
  (Reported 3 times)		 deletion 16_ex - p.Thr497Ilefs*2 - frameshift RB1_00108 unknown
g.77073delT c.1494delT Deletion 16_ex - p.(Tyr498*) - nonsense RB1_01943 unknown
g.77073T>A c.1494T>A
  (Reported 4 times)		 substitution 16_ex - p.Tyr498X - nonsense RB1_00109 -
g.77073T>G c.1494T>G
  (Reported 4 times)		 substitution 16_ex - p.Tyr498X - nonsense RB1_00314 -
g.77073_77074dup c.1494_1495dup insertion 16_ex - p.Ser499Ilefs*21 - frameshift RB1_00110 unknown
g.77077A>A c.1498A>A substitution 16_ex altered splicing - - missense-splice RB1_00821 -
g.77077A>C c.1498A>C substitution 16_ex altered splicing - - splice RB1_01328 -
g.77077A>G c.1498A>G substitution 16_ex p.Arg500Gly/skip exon 16 p.Arg500Gly/skip exon 16 - missense-splice RB1_00527 -
g.77077del c.1498del Deletion 16_ex - p.(Arg500Glufs*19) - frameshift RB1_02072 germline
g.77078G>A c.1498+1G>A
  (Reported 3 times)		 substitution 16_in skip exon 17 skip exon 17 - splice RB1_00333 -
g.77078G>C c.1498+1G>C Substitution 16_in splice - - splice RB1_01732 somatic
g.77078G>T c.1498+1G>T Substitution 16_in splice_donor - - splice RB1_01895 unknown
g.77079T>C c.1498+2T>C
  (Reported 2 times)		 substitution 16_in altered splicing - - splice RB1_00921 -
g.77079T>G c.1498+2T>G
  (Reported 2 times)		 substitution 16_in altered splicing - - splice RB1_00437 -
g.77080A>C c.1498+3A>C substitution 16_in altered splicing - - splice RB1_00922 -
g.77080A>T c.1498+3A>T Substitution 16_in splice_donor - - splice RB1_01896 unknown
g.77080+3ins61 c.1498+3ins61 Insertion 16_in - - - unknown RB1_01716 somatic
g.77081A>G c.1498+4A>G Substitution 16_in splice - - splice RB1_01628 germline
g.77081A>T c.1498+4A>T Substitution 16_in splice - - splice RB1_01683 somatic
g.77082del c.1498+5del Deletion 16_in altered splicing - - unknown RB1_02010 germline
g.77082G>A c.1498+5G>A
  (Reported 2 times)		 substitution 16_in altered splicing - - splice RB1_00207 -
g.77082G>C c.1498+5G>C substitution 16_in altered splicing - - splice RB1_01246 -
g.77082G>T c.1498+5G>T substitution 16_in altered splicing - - splice RB1_00381 somatic
g.77083T>A c.1498+6T>A Substitution 16_in - - - splice RB1_02097 germline
g.77901T>A c.1499-182T>A substitution 16_in - variant - variant RB1_01111 -
g.77966T>C c.1499-117T>C substitution 16_in - variant - variant RB1_01112 -
g.78026del c.1499-57del
  (Reported 2 times)		 deletion 16_in - variant - variant RB1_01113 -
g.78073del c.1499-10del
  (Reported 2 times)		 deletion 16_in - variant - variant RB1_01309 -
g.78081A>C c.1499-2A>C substitution 16_in altered splicing - - splice RB1_01261 -
g.78081A>G c.1499-2A>G Substitution 16_in altered splicing - - unknown RB1_01484 somatic
g.78081A>T c.1499-2A>T substitution 16_in altered splicing - - splice RB1_01260 -
g.78082G>A c.1499-1G>A
  (Reported 2 times)		 substitution 16_in altered splicing - - splice RB1_01146 -
g.78082G>T c.1499-1G>T
  (Reported 3 times)		 Substitution 16_in - - - splice RB1_01414 -
g.78177 C>T
  (Reported 2 times)		 Substitution 17 c.1593C>T p.Ile532Ile - splice RB1_02109 germline
g.78083del c.1499del deletion 17_ex - - - frameshift RB1_00903 -
g.78083G>T c.1499G>T substitution 17_ex - p.Arg500Ile - - RB1_01331 -
g.78084A>C c.1500A>C substitution 17_ex - p.Arg500Ser - missense RB1_00936 -
g.78088_78094delinsTCTCAAGAATCTCAAGAATCA c.1504_1510delinsTCTCAAGAATCTCAAGAATC complex 17_ex - p.Thr502Serfs*10 - frameshift RB1_00112 unknown
g.78094C>T c.1510C>T
  (Reported 4 times)		 substitution 17_ex - p.Gln504X - nonsense RB1_00668 -
g.78102T>G c.1518T>G substitution 17_ex - p.Leu506Leu - - RB1_01371 -
g.78116_78120del c.1532_1536del deletion 17_ex - - - frameshift RB1_00455 somatic
g.78118_78119del c.1534_1535del deletion 17_ex - - - frameshift RB1_01226 -
901 - 1000
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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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