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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.70288G>A c.1174G>A Substitution 12_ex - p.Ala392Thr - unknown RB1_01809 unknown
g.70291delA c.1177delA Deletion 12_ex - - - frameshift RB1_01731 somatic
g.70291delAinsTT c.1177delAinsTT Other/Complex 12_ex - - - frameshift RB1_01741 somatic
g.70292_70293del c.1179_1180del
  (Reported 2 times)		 deletion 12_ex - p.Ser393Argfs*12 - frameshift RB1_00085 unknown
g.70297C>T c.1183C>T
  (Reported 2 times)		 substitution 12_ex - p.Gln395X - nonsense RB1_00086 -
g.70303del c.1189del Deletion 12_ex - p.(Ser397Glnfs*4) - frameshift RB1_02061 germline
g.70304C>A c.1190C>A
  (Reported 3 times)		 substitution 12_ex - p.Ser397X - nonsense RB1_00291 -
g.70304delC c.1190delC
  (Reported 2 times)		 Deletion 12_ex - p.(Ser397*) - unknown RB1_01547 somatic
g.70305del c.1191del deletion 12_ex - p.Glu398Lysfs*3 - frameshift RB1_00662 unknown
g.70306G>T c.1192G>T substitution 12_ex - p.Glu398X - nonsense RB1_00228 germline
g.70306insA c.1192insA Insertion 12_ex - - - frameshift RB1_01722 somatic
g.70307del c.1193del deletion 12_ex - p.(Asn399Ilefs*2) - frameshift RB1_00755 unknown
g.70309_70310del c.1195_1196del deletion 12_ex - p.Asn399Serfs*6 - frameshift RB1_00478 germline
g.70310del c.1196del deletion 12_ex - p.Asn399Ilefs*2 - frameshift RB1_00580 unknown
g.70310dup c.1196dup insertion 12_ex - p.Asn399Lysfs*7 - frameshift RB1_00387 unknown
g.70311_70328del c.1197_1214del Deletion 12_ex - p.(Leu400_Asn405del) - unknown RB1_02062 germline
g.70313dup c.1199dup insertion 12_ex - p.Ile401Aspfs*5 - frameshift RB1_00300 somatic
g.70313_70319del c.1199_1205del
  (Reported 2 times)		 deletion 12_ex - p.Leu400Profs*8 - frameshift RB1_01242 unknown
g.70318del c.1204del deletion 12_ex - p.(Ser402Profs*8) - frameshift RB1_00428 somatic
g.70320C>T c.1206C>T Substitution 12_ex - samesense - splice RB1_01427 -
g.70323_70327del c.1209_1213del deletion 12_ex - p.(Tyr403*) - frameshift RB1_00264 somatic
g.70326del c.1212del deletion 12_ex - - - frameshift RB1_00732 germline
g.70328_70337del10 c.1214_1215+8del10 Deletion 12_ex splice_donor del - - splice RB1_01885 unknown
g.70329C>T c.1215C>T substitution 12_ex - variant - variant RB1_00432 -
g.70330G>A c.1215+1G>A
  (Reported 64 times)		 substitution 12_in altered splicing - - splice RB1_00011 -
g.70330G>T c.1215+1G>T Substitution 12_in altered splicing - - unknown RB1_01479 somatic
- c.1215+4del Deletion 12_in - - - splice RB1_01976 germline
g.70392T>G c.1215+63T>G Substitution 12_in splice_donor - - splice RB1_01886 unknown
g.70436A>G c.1215+107A>G substitution 12_in - variant - variant RB1_01105 -
g.73595T>C c.1216-158T>C substitution 12_in - variant - variant RB1_01106 -
g.73724A>G c.1216-29A>G Substitution 12_in - - - unknown RB1_01839 somatic
g.73752G>A c.1216-1G>A Substitution 12_in Essential splice site - - unknown RB1_01481 somatic
g.73752G>C c.1216-1G>C Substitution 12_in Essential splice site - - unknown RB1_01482 somatic
g.70330G>C c.1216+1G>C
  (Reported 2 times)		 substitution 12_in altered splicing - - splice RB1_00199 -
g.70331dup c.1216+2dup insertion 12_in altered splicing - - splice RB1_00916 -
g.70331T>C c.1216+2T>C substitution 12_in altered splicing - - splice RB1_01133 germline
g.70331+3insT c.1216+3insT Insertion 12_in splice - - splice RB1_01721 somatic
g.70358G>A c.1216+29G>A substitution 12_in - variant - variant RB1_01039 -
g.71269G>A c.1216+940G>A
  (Reported 2 times)		 substitution 12_in - variant - variant RB1_01079 -
g.73724A>G c.1217-29A>G
  (Reported 2 times)		 substitution 12_in - variant - variant RB1_00581 -
g.73750A>G c.1217-3A>G substitution 12_in - intron inclusion 2bp - splice new acceptor RB1_00769 -
g.73751A>G c.1217-2A>G substitution 12_in altered splicing - - splice RB1_00197 -
g.73752G>A c.1217-1G>A
  (Reported 2 times)		 substitution 12_in altered splicing - - splice RB1_00198 -
g.73752G>T c.1217-1G>T
  (Reported 2 times)		 substitution 12_in altered splicing - - splice RB1_00918 -
g.73751_73754dup c.1216-2_1217dup
  (Reported 2 times)		 insertion 13_ex - - - frameshift RB1_01153 -
g.73753_73774del c.1218_1239del deletion 13_ex - p.Asn406Lysfs*4 - frameshift RB1_00087 unknown
g.73759del c.1222del deletion 13_ex - p.Thr408Glnfs*2 - frameshift RB1_00374 somatic
g.73765_73766del c.1228_1229del deletion 13_ex - - - frameshift RB1_00713 germline
g.73767_73768delinsGG c.1230_1231delinsGG complex 13_ex - - - - RB1_01314 -
g.73770_73785del c.1233_1248del deletion 13_ex - p.(Ser414*) - frameshift RB1_00301 germline
g.73772_73773del c.1235_1236del Deletion 13_ex - p.(Lys412Argfs*15) - frameshift RB1_02063 germline
g.73772_73773delinsC c.1235_1236delinsC
  (Reported 2 times)		 complex 13_ex - p.Lys412Thrfs*5 - frameshift RB1_00707 unknown
g.73773del c.1236del
  (Reported 3 times)		 deletion 13_ex - p.Glu413Lysfs*4 - frameshift RB1_00088 unknown
g.73774del c.1237del deletion 13_ex - p.Glu413Lysfs*4 - frameshift RB1_00090 unknown
g.73774G>T c.1237G>T
  (Reported 6 times)		 substitution 13_ex - p.Glu413X - nonsense RB1_00089 -
g.73777del c.1240del deletion 13_ex - p.Ser414Valfs*3 - frameshift RB1_00311 unknown
g.73779insG c.1242_1243insG insertion 13_ex - p.Ile415Aspfs*13 - frameshift RB1_00520 unknown
g.73783delC c.1246delC Deletion 13_ex - - - frameshift RB1_01714 somatic
g.73784del c.1247del deletion 13_ex - p.(Leu416Argfs*4) - frameshift RB1_00462 germline
g.73784dup c.1247dup insertion 13_ex - - - frameshift RB1_00811 -
g.73785_73788delinsTC c.1248_1251delinsTC Insertion/Deletion 13_ex - p.(Lys417Glnfs*10) - frameshift RB1_02006 germline
g.73786A>T c.1249A>T Substitution 13_ex - p.Lys417X - unknown RB1_01724 somatic
g.73788_73789del c.1251_1252del deletion 13_ex - p.Arg418Serfs*9 - unknown RB1_01223 unknown
g.73789delA c.1252del Substitution 13_ex - p.Arg418Glufs*2 - unknown RB1_01549 somatic
g.73789dup c.1252dup insertion 13_ex - p.Arg418Lysfs*10 - frameshift RB1_01206 unknown
g.73799del c.1262del deletion 13_ex - p.Asp421Valfs*2 - frameshift RB1_00091 unknown
g.73799_73801delinsTG c.1262_1264delinsTG complex 13_ex - - - - RB1_01200 -
g.73801dup c.1264dup insertion 13_ex - p.Ile422Asnfs*6 - frameshift RB1_00092 unknown
g.73804G>T c.1267G>T
  (Reported 2 times)		 substitution 13_ex - p.Gly423X - nonsense RB1_01155 -
g.g.73805del c.1268del deletion 13_ex - p.Gly423Aspfs*34 - frameshift RB1_01360 unknown
g.73805dupG c.1268dup Duplication 13_ex - p.Tyr424Ilefs*4 - frameshift RB1_01550 somatic
g.73809C>A c.1272C>A Substitution 13_ex - p.Tyr424X - nonsense RB1_01511 somatic
g.70809_703818dup10 c.1272_1281dup10 Duplication 13_ex - p.(Glu428Hisfs*3) - frameshift RB1_01923 unknown
g.73815del c.1278del Deletion 13_ex - p.(Phe426Leufs*31) - frameshift RB1_02064 germline
g.73818del c.1281del Deletion 13_ex - p.(Glu428Argfs*29) - frameshift RB1_01952 germline
g.73819del c.1282del deletion 13_ex - p.Glu428Argfs*29 - frameshift RB1_00550 unknown
g.73819G>T c.1282G>T Substitution 13_ex - p.Glu428X - unknown RB1_01727 somatic
g.73820del c.1283del Deletion 13_ex - p.Glu428Glyfs*29 - frameshift RB1_01719 germline
g.73824dup c.1287dup insertion 13_ex - p.Phe430Ilefs*3 - frameshift RB1_00549 unknown
g.73825insA c.1288_1289insA insertion 13_ex - - - frameshift RB1_01151 -
g.73827del c.1290del
  (Reported 2 times)		 deletion 13_ex - p.Phe430Leufs*27 - frameshift RB1_00093 unknown
g._73829_73832dup c.1292_1295dup insertion 13_ex - p.Lys432Asnfs*2 - frameshift RB1_00351 germline
g.73835C>T c.1298C>T substitution 13_ex - p.Ala433Val - - RB1_01193 -
g.73838_73839dup c.1301_1302dup Duplication 13_ex - p.Gly435Trpfs*23 - frameshift RB1_02008 somatic
g.73842insC c.1305insC Insertion 13_ex - - - frameshift RB1_01621 germline
g.73843C>A c.1306C>A Substitution 13_ex - p.Gln436Lys - unknown RB1_01781 germline
g.73843C>T c.1306C>T
  (Reported 2 times)		 substitution 13_ex - p.Gln436X - nonsense RB1_00309 -
g.73843dup c.1306dup insertion 13_ex - p.Gln436Profs*27 - frameshift RB1_00812 unknown
g.73852_73853delGT c.1315_1316delGT Deletion 13_ex - p.(Val439Argfs*23) - frameshift RB1_01924 unknown
g.73855G>T c.1318G>T
  (Reported 3 times)		 substitution 13_ex - p.Glu440X - nonsense RB1_01143 somatic
g.73856dupA c.1319dup Duplication 13_ex - p.Ile441Asnfs*22 - frameshift RB1_01551 unknown
g.73858del c.1321del deletion 13_ex - - - frameshift RB1_01224 -
g.73862delG c.1325del Deletion 13_ex - p.Gly442Aspfs*15 - unknown RB1_01552 somatic
g.73865C>A c.1328C>A
  (Reported 4 times)		 substitution 13_ex - p.Ser443X - nonsense RB1_00283 -
g.73865C>G c.1328C>G Substitution 13_ex - p.Ser443X - unknown RB1_01726 somatic
g.73867C>T c.1330C>T
  (Reported 5 times)		 substitution 13_ex - p.Gln444X - nonsense RB1_00345 -
g.73867del c.1330del deletion 13_ex - p.Gln444Serfs*13 - frameshift RB1_00094 unknown
g.73868A>G c.1331A>G
  (Reported 3 times)		 substitution 13_ex altered splicing - - splice RB1_00280 -
g.73869G>A c.1332G>A
  (Reported 3 times)		 substitution 13_ex RT-PCR del:E13 - splice RB1_00095 -
g.73869G>C c.1332G>C
  (Reported 3 times)		 substitution 13_ex RT-PCR del:E13 - splice RB1_00307 -
701 - 800
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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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