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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.64372_64373del c.982_983del deletion 10_ex - - - frameshift RB1_00459 somatic
g.64373dupA c.983dupA Duplication 10_ex - p.(Asn328Lysfs*2) - frameshift RB1_01917 unknown
g.64375A>T c.985A>T Substitution 10_ex - g.Lys329X - nonsense RB1_01708 somatic
g.64377del c.987del deletion 10_ex - p. Asp330Ilefs*2 - frameshift RB1_00255 unknown
g.64384del c.994del
  (Reported 2 times)		 deletion 10_ex - p.Asp332Metfs*17 - frameshift RB1_00368 unknown
g.64390del c.1000del Deletion 10_ex - p.(Arg334Aspfs*15) - frameshift RB1_02060 germline
g.64394T>A c.1004T>A substitution 10_ex - p.Leu335X - nonsense RB1_00225 -
g.64395del c.1005del deletion 10_ex - p.Leu335Phefs*14 - frameshift RB1_00365 germline
g.64400delT c.1010delT Deletion 10_ex - - - frameshift RB1_01618 germline
g.64400dupT c.1010dupT Duplication 10_ex - p.(Leu337Phefs*4) - frameshift RB1_01918 unknown
g.64402del c.1012del deletion 10_ex - - - - RB1_01220 -
g.64407del c.1017del
  (Reported 2 times)		 deletion 10_ex - p.His339Glnfs*10 - frameshift RB1_01378 unknown
g.64407_64429del c.1017_1039del Deletion 10_ex - p.Asp340Tyrfs*5 - unknown RB1_01545 somatic
g.64411A>T c.1021A>T Substitution 10_ex - p.Lys341X - nonsense RB1_01617 germline
g.64413_64414del c.1023_1024del deletion 10_ex - p.Lys341Asnfs*5 - frameshift RB1_00430 somatic
g.64414del c.1024del
  (Reported 2 times)		 deletion 10_ex - p.Thr342Leufs*7 - frameshift RB1_00497 unknown
g.64417_64418del c.1027_1028del
  (Reported 2 times)		 deletion 10_ex - p.(Leu343Serfs*3) - frameshift RB1_00754 unknown
g.64420C>T c.1030C>T
  (Reported 9 times)		 substitution 10_ex - p.Gln344X - nonsense RB1_00222 -
g.64429_64442del c.1039_1049+3del
  (Reported 2 times)		 deletion 10_ex altered splicing - - splice RB1_00076 -
g.64441del c.1049del deletion 10_in altered splicing - - splice RB1_01221 -
g.64439G>T c.1049G>T Substitution 10_ex altered splicing p.Ser350Iso Ser350Iso unknown RB1_01450 -
g.64440G>T c.1049+1G>T substitution 10_in altered splicing - - splice RB1_00007 -
g.64441T>A c.1049+2T>A Substitution 10_in altered splicing - - unknown RB1_01477 somatic
g.64441T>C c.1049+2T>C
  (Reported 2 times)		 substitution 10_in altered splicing - - splice RB1_00712 -
g.64442A>G c.1049+3A>G substitution 10_in altered splicing - - splice RB1_01258 -
g.64497G>A c.1049+58G>A substitution 10_in - variant - variant RB1_01031 -
g.64497G>C c.1049+58G>C substitution 10_in - variant - variant RB1_01032 -
g.65307A>C c.1050-57A>C
  (Reported 2 times)		 substitution 10_in - variant - variant RB1_01033 -
g.65361delT c.1050-3delT Deletion 10_in splice_accpetor - - splice RB1_01884 unknown
g.65361_65363delinsAA c.1050-3_1050-1delinsAA Other/Complex 10_in - - - unknown RB1_01853 germline
g.65362A>G c.1050-2A>G
  (Reported 2 times)		 substitution 10_in altered splicing - - splice RB1_00196 -
g.65363G>C c.1050-1G>C
  (Reported 2 times)		 substitution 10_in altered splicing - - splice RB1_00442 somatic
g.65273G>A c.1050G>A substitution 10_in - - - - RB1_00073 -
- c.1050-1G>A Substitution 11 r.1216_1228del p.Ser350Argfs*13 - frameshift RB1_02103 germline
g.65366T>G c.1052T>G substitution 11_ex - p.Phe351Cys - missense RB1_00797 -
g.65368G>T c.1054G>T Substitution 11_ex - p.(Glu352*) - nonsense RB1_01941 unknown
g.65371_65375dup c.1057_1061dup insertion 11_ex - p.Arg355Hisfs*14 - frameshift RB1_00298 somatic
g.65374C>T c.1060C>T
  (Reported 2 times)		 substitution 11_ex - p.Gln354X - nonsense RB1_00077 -
g.65371_65372del c.1060_1061del
  (Reported 2 times)		 deletion 11_ex - p.(Gln354Glufs*7) - frameshift RB1_00798 unknown
g.65375dupA c.1061dupA Duplication 11_ex - p.(Arg355Glufs*7) - unknown RB1_01919 unknown
g.65377_65378del c.1064_1065del
  (Reported 4 times)		 deletion 11_ex - p.Arg355Asnfs*6 - frameshift RB1_00334 unknown
g.65386C>G c.1072C>G substitution 11_ex - p.Arg358Gly - - RB1_01320 -
g.65386C>T c.1072C>T
  (Reported 65 times)		 substitution 11_ex - p.Arg358X - nonsense RB1_00008 -
g.65392del c.1078del deletion 11_ex - p.Ser360Valfs*7 - unknown RB1_01222 unknown
- c.1078_1082dup Duplication 11_ex - p.Asn361Lysfs*8 - frameshift RB1_01974 germline
g.65393delG c.1079delG Deletion 11_ex - p.(Ser360Ilefs*7) - frameshift RB1_01920 unknown
g.65397_65399delinsGAGG c.1083_1085delinsGAGG complex 11_ex - p.Asn361Lysfs*3 - frameshift RB1_00078 unknown
g.65405A>C c.1091A>C Substitution 11_ex - p.(Glu364Ala) - missense RB1_02056 germline
g.65409 c.1095ins insertion 11_ex - 383X - frameshift RB1_00706 -
g.65410del c.1096del deletion 11_ex - p.(Val366*) - frameshift RB1_00079 unknown
g.65416G>A c.1102G>A Substitution 11_ex - p.Val368Ile - unknown RB1_01569 unknown
g.65417del c.1103del deletion 11_ex - p.Val368Glufs*12 - frameshift RB1_00256 unknown
g.65431_65434del c.1117_1120del deletion 11_ex - - - frameshift RB1_00884 -
g.65432delC c.1118delC Deletion 11_ex - - - frameshift RB1_01619 germline
g.65433_65434delTC c.1119_1120delTC Deletion 11_ex - - - frameshift RB1_01718 somatic
g.65435_65346del c.1121_1122del
  (Reported 3 times)		 deletion 11_ex - p.Pro374Argfs*2 - frameshift RB1_00080 unknown
g.65437G>T c.1123G>T Substitution 11_ex altered splicing p.Val375Phe Val375Phe unknown RB1_01444 -
g.65438T>G c.1124T>G Substitution 11_ex c.1124_1126del p.Val375Gly/splice - splice RB1_01463 germline
g.65482A>C c.1127+41A>C substitution 11_in - variant - variant RB1_01034 -
g.65515C>T c.1127+74C>T
  (Reported 2 times)		 substitution 11_in - variant - variant RB1_01035 -
g.65541T>C c.1127+100T>C substitution 11_in - variant - variant RB1_01036 -
g.65614G>A c.1127+173G>A substitution 11_in - variant - variant RB1_01037 -
g.70169T>G c.1128-73T>G Substitution 11_in - - - unknown RB1_01395 -
g.70170T>A c.1128-72T>A
  (Reported 2 times)		 substitution 11_in - variant - variant RB1_00516 -
g.70170T>G c.1128-72T>G
  (Reported 2 times)		 substitution 11_in - variant - variant RB1_01038 -
g.70213 c.1128-29delA Deletion 11_in - - - unknown RB1_01838 somatic
g.70240A>G c.1128-2A>G
  (Reported 2 times)		 Substitution 11_in altered splicing - - unknown RB1_01478 somatic
g.70241G>A c.1128-1G>A substitution 11_in altered splicing - - splice RB1_01366 -
g.70241G>T c.1128-1G>T Substitution 11_in splice - - splice RB1_01723 somatic
g.65439 c.1225_1127delinsAA Other/Complex 11_ex exon skipping Ser350Arg, Phe351_Arg376del [list] in-frame RB1_01390 -
g.70243A>T c.1129A>T
  (Reported 3 times)		 substitution 12_ex - p.Thr377Ser - missense RB1_01192 -
g.70245del c.1131del deletion 12_ex - p.Val378Leufs*2 - frameshift RB1_00503 unknown
g.70249dupA c.1135dupA Duplication 12_ex - p.(Met379Asnfs*16) - unknown RB1_01921 unknown
g.70247_70253del c.1139_1145del deletion 12_ex - p.(Asn380Thrfs*4) - frameshift RB1_00547 unknown
g.70254C>T c.1140C>T Substitution 12_ex - p.Asn380Asn Asn380Asn unknown RB1_01445 unknown
g.70255dup c.1141dup insertion 12_ex - p.Thr381Asnfs*14 - frameshift RB1_00800 unknown
g.70256insA c.1142insA Insertion 12_ex - - - frameshift RB1_01620 germline
g.70256_70268del c.1142_1154del deletion 12_ex - fs - frameshift RB1_00956 -
g.70261C>T c.1147C>T
  (Reported 5 times)		 substitution 12_ex - p.Gln383X - nonsense RB1_00382 -
g.70261dup c.1147dup
  (Reported 2 times)		 insertion 12_ex - p.Gln383Profs*12 - frameshift RB1_00367 unknown
g.70261C>T c.1149C>T Substitution 12 - - - nonsense RB1_01539 germline
- c.1149dup Duplication 12_ex - p.Gln384Thrfs*4 - frameshift RB1_01975 somatic
g.70264C>T c.1150C>T
  (Reported 3 times)		 substitution 12_ex - p.Gln384X - nonsense RB1_00081 -
g.70268T>A c.1154T>A substitution 12_ex - p.Leu385X - nonsense RB1_00293 germline
g.70268_70271del c.1154_1157del Deletion 12_ex - - - frameshift RB1_01694 somatic
g.70267_70277del c.1155_1165del deletion 12_ex - p.Leu385Phefs*6 - frameshift RB1_00548 unknown
g.70270dup c.1156dup insertion 12_ex - p.Met386Asnfs*9 - frameshift RB1_00502 unknown
g.70273A>T c.1159A>T Substitution 12_ex - p.Met387Leu - missense RB1_01570 germline
g.70273dup c.1159dup insertion 12_ex - p.Met387Asnfs*8 - frameshift RB1_00082 unknown
g.70275del c.1161del deletion 12_ex - p.Met387Ilefs*3 - frameshift RB1_00801 unknown
g.70275dup c.1161dup insertion 12_ex - p.Ile388Aspfs*7 - frameshift RB1_00335 somatic
g.70277T>G c.1163T>G Substitution 12_ex - p.Ile388Ser - unknown RB1_01808 somatic
g.70279_70285dup7 c.1165_1171dup7 Duplication 12_ex - p.(Ser391Phefs*6) - frameshift RB1_01922 unknown
g.70280delT c.1166delT Deletion 12_ex - p.(Leu389*) - nonsense RB1_01942 unknown
g.70280dup c.1166dup
  (Reported 2 times)		 insertion 12_ex - p.Leu389Phefs*6 - frameshift RB1_00353 germline
g.70280T>A c.1166T>A
  (Reported 2 times)		 substitution 12_ex - p.Leu389X - nonsense RB1_00083 -
g.70281_70282insT c.1167_1168insT Insertion 12_ex - g.70281_70282insT - unknown RB1_01546 unknown
g.70281_70288del c.1167_1174del deletion 12_ex - p.Leu389Phefs*3 - frameshift RB1_00084 unknown
g.70286C>T c.1172C>T Substitution 12_ex - p.Ser391Leu [Ser391Leu] unknown RB1_01452 -
g.70287A>T c.1173A>T Substitution 12_ex - - - unknown RB1_01822 somatic
601 - 700
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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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