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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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g.39464A>T c.283A>T substitution 03_ex - p.Lys95X - nonsense RB1_01189 -
g.39467_39468delinsC c.286_287delinsC complex 03_ex - p.Lys96Argfs*15 - frameshift RB1_00339 somatic
g.39468del c.287del
  (Reported 2 times)		 deletion 03_ex - p.Lys96Argfs*15 - frameshift RB1_00037 unknown
g.39469_39470del c.288_289del deletion 03_ex - p.Glu97Thrfs*12 - frameshift RB1_00038 unknown
g.39470G>T c.289G>T substitution 03_ex - p.Glu97X - nonsense RB1_00359 somatic
g.39472A>G c.291A>G Substitution 03_ex - - - silent RB1_01854 germline
g.39476_3977del c.295_296del deletion 03_ex - - - frameshift RB1_00619 -
g.39476_39477dupTG c.295_296dupTG Duplication 03_ex - - - frameshift RB1_01715 somatic
g.39477G>A c.296G>A substitution 03_ex - p.Trp99X - nonsense RB1_00039 -
g.39478G>A c.297G>A
  (Reported 5 times)		 substitution 03_ex - p.Trp99X - nonsense RB1_00040 -
g.39479G>T c.298G>T Substitution 03_ex - p.Gly100X - unknown RB1_01790 somatic
g.39483delT c.302delT Deletion 03_ex - - - unknown RB1_01426 -
g.39486_39487del c.305_306del
  (Reported 2 times)		 deletion 03_ex - p.Cys102Tyrfs*7 - frameshift RB1_00041 unknown
g.39489_39490dup c.308_309dup Duplication 03_ex - - - unknown RB1_01699 somatic
g.39491_39506del c.310_325del deletion 03_ex - p.Phe104Thrfs*2 - frameshift RB1_01305 unknown
g.39493delT c.312delT Deletion 03_ex - - - unknown RB1_01725 somatic
- c.320_336delCAGTTGACCTAGATGAG Deletion 3 - p.(Ala107Aspfs*7) - nonsense RB1_02098 germline
g.39512_39513del c.331_332del Deletion 3_ex - p.(Asp111*) - unknown RB1_02029 germline
g.39515G>T c.334G>T
  (Reported 2 times)		 substitution 03_ex - p.Glu112X - nonsense RB1_00343 somatic
g.39516_39520del c.335_339del
  (Reported 2 times)		 deletion 03_ex - p.Glu112Valfs*6 - frameshift RB1_00042 somatic
g.39517_39521del c.336_340del Deletion 03_ex - p.Glu112Aspfs*6 - frameshift RB1_01523 somatic
g.39518insT c.337insT Insertion 03_ex - - - frameshift RB1_01595 germline
g.39518_g.39522delATGTC c.337_341delATGTC Deletion 03_ex - - - frameshift RB1_01596 germline
g.39519dup c.338dup insertion 03_ex - - - frameshift RB1_00651 -
g.39522C>A c.341C>A substitution 03_ex - p.Ser114X - nonsense RB1_00717 -
g.39523_39526del c.342_345del deletion 03_ex - fs - frameshift RB1_00342 somatic
g.39527_39530del c.346_349del Deletion 03_ex - p.Thr116Leufs*8 - frameshift RB1_01524 somatic
g.39532delT c.351del Deletion 3 - p.Phe117Leufs*8 - frameshift RB1_01421 unknown
g.39533del c.352del Deletion 3_ex - p.(Thr118Leufs*7) - unknown RB1_02030 germline
g.39536G>T c.355G>T substitution 03_ex - p.Glu119X - nonsense RB1_01134 germline
g.39538insACTTT c.357_358insACTTT insertion 03_ex - p.Leu120Thrfs*7 - frameshift RB1_00043 unknown
g.39542C>T c.361C>T substitution 03_ex - p.Gln121X - nonsense RB1_00440 unknown
g.39548A>G c.367A>G substitution 03_ex - p.Asn123Asp Asn123Asp unknown RB1_01372 -
g.39549del c.368del deletion 03_ex - p.Asn123Thrfs*2 - frameshift RB1_00349 unknown
g.39549dup c.368dup
  (Reported 2 times)		 insertion 03_ex - p.Asn123Lysfs*8 - frameshift RB1_00044 unknown
g.39551_39552del c.371_372del
  (Reported 7 times)		 deletion 03_ex - p.Ile124Argfs*6 - frameshift RB1_00026 unknown
g.39554G>T c.373G>T substitution 03_ex - p.Glu125X - nonsense RB1_01135 somatic
g.39558T>G c.377T>G substitution 03_ex - p.Ile126Ser Ile126Ser missense RB1_00718 -
g.39561G>A c.380G>A
  (Reported 5 times)		 substitution 03_ex altered splicing p.Ser127Asn Ser127Asn splice RB1_00464 -
g.39561G>C c.380G>C
  (Reported 2 times)		 substitution 03_ex altered splicing - - splice RB1_00325 -
g.39561G>T c.380G>T Substitution 03_ex - p.Ser127Ile - splice RB1_01568 somatic
g.39562del c.380+1del deletion 03_in altered splicing - - splice RB1_00411 somatic
g.39562G>A c.380+1G>A
  (Reported 4 times)		 substitution 03_in altered splicing - - splice RB1_00188 -
g.39562G>T c.380+1G>T
  (Reported 3 times)		 substitution 03_in altered splicing - - splice RB1_00187 -
g.39564A>C c.380+3A>C substitution 03_in altered splicing - - splice RB1_01253 -
g.39564A>T c.380+3A>T
  (Reported 2 times)		 substitution 03_in altered splicing - - splice RB1_00915 -
g.39571C>G c.380+10C>G substitution 03_in - variant - variant RB1_01006 -
g.39573T>C c.380+12T>C
  (Reported 2 times)		 substitution 03_in - variant - variant RB1_01007 -
g.39578_39579del c.380+17_380+18del deletion 03_in - variant - variant RB1_01008 -
g.39596T>G c.380+35T>G substitution 03_in - variant - variant RB1_00515 unknown
g.39598A>G c.380+37A>G
  (Reported 2 times)		 substitution 03_in - variant - variant RB1_01009 -
g.39606C>T c.380+45C>T
  (Reported 3 times)		 substitution 03_in - variant - variant RB1_00987 -
g.41739A>G c.381-187A>G substitution 03_in - variant - variant RB1_01097 -
g.41774A>G c.381-152A>G
  (Reported 2 times)		 substitution 03_in - variant - variant RB1_01010 -
g.41843delA c.381-83delA Deletion 03_in - - - unknown RB1_01827 unknown
g.41849delA c.381-77delA Substitution 03_in - - - unknown RB1_01828 unknown
g.41868G>A c.381-58G>A substitution 03_in - variant - variant RB1_01098 -
g.41887_41924del c.381-39_381-2del Deletion in_03 - - - splice RB1_01953 germline
g.41924A>C c.381-2A>C substitution 03_in altered splicing - - splice RB1_00485 -
g.41924A>G c.381-2A>G
  (Reported 2 times)		 substitution 03_in altered splicing - - splice RB1_01327 -
g.41925G>C c.381-1G>C substitution 03_in altered splicing - - splice RB1_01254 -
g.41927_41928del c.382_383del deletion 04_ex - p.Val128Profs*2 - frameshift RB1_00046 unknown
g.41930C>T c.385C>T Substitution 04_ex - p.His129Tyr - missense RB1_01413 -
g.41931_41933delinsTT c.386_388delinsTT Insertion/Deletion 4_ex - p.(His129Leufs*7) - frameshift RB1_02031 germline
g.41933del c.388del deletion 04_ex - - - frameshift RB1_00961 -
- c.390del Deletion 4 - p.(Lys130Asnfs*6) - nonsense RB1_02100 germline
g.41937del c.392del deletion 04_ex - - - - RB1_01212 -
g.41941dup c.396dup insertion 04_ex - - - frameshift RB1_01204 -
g.41942A>C c.397A>C substitution 04_ex - variant Asn133His variant RB1_01011 -
g.41945_41952del c.400_407Adel Insertion/Deletion 04_ex - - - unknown RB1_01505 somatic
g.41946del c.401del deletion 04_ex - p.Leu134Tyrfs*2 - frameshift RB1_00409 somatic
g.41946 c.401T>A Substitution 04_ex - p.(Leu134*) - nonsense RB1_01860 germline
g.41946_41949del c.401_404del
  (Reported 3 times)		 deletion 04_ex - p.(Leu134*) - frameshift RB1_00047 unknown
g.41946_41947dup c.403_402dup insertion 04_ex - p.Leu135X - frameshift RB1_00410 somatic
g.41948insA c.403_404insA insertion 04_ex - - - - RB1_00898 -
g.41950_41991delinsGTTA c.405_446delinsGTTA Insertion/Deletion 4_ex - p.(Lys136Leufs*8) - frameshift RB1_02032 germline
g.41951A>T c.406A>T substitution 04_ex - p.Lys136X - nonsense RB1_00048 -
g.41954G>T c.409G>T
  (Reported 10 times)		 substitution 04_ex - p.Glu137X - nonsense RB1_00049 -
g.41956A>T c.411A>T
  (Reported 6 times)		 substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 -
g.41957dup c.412dup Duplication 04_ex - p.Ile138Asnfs*2 - frameshift RB1_01526 unknown
g.41958T>G c.413T>G Substitution 04_ex - p.Ile138Ser Ile38Ser missense RB1_01397 -
g.41965del c.420del deletion 04_ex - p.Ser141Valfs*12 - frameshift RB1_00379 germline
g.41966del c.421del deletion 04_ex - - - - RB1_01213 -
g.41967_41968del c.422_423del Substitution 04_ex - - - unknown RB1_01787 germline
g.41969_41976del c.424_431del deletion 04_ex - p.(Thr142*) - frameshift RB1_00695 unknown
g.41974_41975del c.429_430del deletion 04_ex - p.Lys143Asnfs*2 - frameshift RB1_00341 unknown
g.41983del c.438del deletion 04_ex - p.Asn146Lysfs*7 - unknown RB1_01214 unknown
g.41987_41988del c.442_443del deletion 04_ex - Met148Valfs*8 - frameshift RB1_00773 unknown
g.41989insAT c.444_445insAT insertion 04_ex - p.Ser149Ilefs*5 - frameshift RB1_01310 unknown
g.41993A>T c.448A>T Substitution 04_ex Stop gained p.Arg150X - unknown RB1_01498 somatic
g.42001del c.456del deletion 04_ex - - - - RB1_01215 -
g.42005_42006dup c.460_461dup insertion 04_ex - p.Tyr155Serfs*21 - frameshift RB1_00495 unknown
g.42012_42014dup c.465_467dup insertion 04_ex - p.Asp156dup - frameshift RB1_00568 -
g.42014del c.469del deletion 04_ex - p.Val157Tyrfs*18 - frameshift RB1_00458 somatic
g.42018delT c.473delT Deletion 04_ex - - - frameshift RB1_01751 somatic
g.42018T>A c.473T>A Substitution 04_ex - p.Leu158X - unknown RB1_01846 somatic
g.42018T>C c.473T>C Substitution 04_ex - p.Leu158Ser Leu158Ser missense RB1_01396 -
g.42019delinsTT c.474delinsTT Insertion/Deletion 04_ex - p.(Leu158Phefs*13) - frameshift RB1_01960 germline
g.42020_42023dup c.475_478dup insertion 04_ex - p.Ala160Valfs*12 - frameshift RB1_00051 unknown
g.42020del c.477del deletion 04_ex - p.Phe159Leufs*16 - frameshift RB1_00865 unknown
201 - 300
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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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