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LOVD - Variant listings for RB1

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1753 entries
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cDNA change   Descending
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g.156702dup c.1970dup
  (Reported 2 times)		 insertion 20_ex - p.Ala658Serfs*10 - frameshift RB1_00323 unknown
g.156702T>A c.1970T>A substitution 20_ex - p.Leu657Gln - missense RB1_00404 -
g.156702T>C c.1970T>C substitution 20_ex - p.Leu657Pro - missense RB1_01344 -
g.156704del c.1972del deletion 20_ex - - - frameshift RB1_00907 -
g.156704G>A c.1972G>A Substitution 20_ex - p.Ala658Thr - unknown RB1_01580 unknown
g.156704_156718del c.1972_1986del
  (Reported 2 times)		 deletion 20_ex - p.Ala658_Leu662del - in-frame RB1_00496 -
g.156705_1567012del c.1973_1980del deletion 20_ex - - - frameshift RB1_01233 -
g.156705del c.1974del deletion 20_ex - p.Tyr659Ilefs*4 - frameshift RB1_00677 unknown
g.156708A>T c.1976A>T Substitution 20_ex - p.Tyr659Phe - unknown RB1_01581 somatic
g.156708_156711del c.1976_1979del Deletion 20_ex - p.(Tyr659Serfs*3) - frameshift RB1_02078 germline
g.156711_156713dup c.1979_1981dup Duplication 20_ex - p.(Leu660dup) - in-frame RB1_01862 germline
g.156712_156715delCCG c.1980_1983delCCG Deletion 20_ex - p.Arg661X - nonsense RB1_01565 somatic
g.156713C>A c.1981C>A substitution 20_ex - variant - variant RB1_01057 -
g.156713C>T c.1981C>T
  (Reported 35 times)		 substitution 20_ex - p.Arg661Trp - missense RB1_00019 -
g.156713_156716del c.1981_1984del
  (Reported 3 times)		 deletion 20_ex - p.(Arg661*) - frameshift RB1_00148 unknown
g.156716C>T c.1984C>T substitution 20_ex - p.Leu662Leu - - RB1_01322 -
g.156717T>C c.1985T>C
  (Reported 3 times)		 substitution 20_ex - p.Leu662Pro - missense RB1_00149 -
g.156717T>G c.1985T>G Substitution 20_ex - p.Leu662Arg - missense RB1_02102 germline
g.156706del[c.1974^c.1980]c.1985insT c.[1985dup;1974_1980del] complex 20_ex - p.Tyr659GlyfsX1 - frameshift RB1_00238 -
g.156719_156726del c.1987_1994del deletion 20_ex - p.(Asn663Leufs*2) - frameshift RB1_00302 germline
g.156720del c.1988del Substitution 20_ex - - - frameshift RB1_01389 -
g.156720ins19 c.1988ins19 Insertion/Deletion 20_ex - - - frameshift RB1_01502 somatic
g.156722_156723AACA c.1990_1991insAACA Insertion 20_ex - - - frameshift RB1_01750 somatic
g.156724delAC c.1992delAC Deletion 20_ex - - - frameshift RB1_01674 somatic
g.156724ins7 c.1992_1993ins7 insertion 20_ex - - - - RB1_00908 -
g.156726T>C c.1994T>C
  (Reported 2 times)		 substitution 20_ex - p.Leu665Pro - missense RB1_00636 -
g.156727_156728del c.1995_1996del Deletion 20_ex - - - frameshift RB1_01642 germline
g.156728dup c.1996dup insertion 20_ex - p.Cys666Leufs*2 - frameshift RB1_01207 unknown
g.156730_156731del c.1998_1999del deletion 20_ex - p.(Cys666*) - frameshift RB1_00253 somatic
g.156743_156746del c.2011_2014del deletion 20_ex - p.Glu672Thrfs*4 - frameshift RB1_01380 unknown
g.156745dup c.2013dup insertion 20_ex - p.(Glu672*) - frameshift RB1_00150 unknown
g.156746G>T c.2014G>T Substitution 20_ex - p.Glu672X - nonsense RB1_01752 somatic
g.156749C>G c.2017C>G Substitution 20_ex - p.His673Asp - unknown RB1_01582 unknown
g.156750A>C c.2018A>C substitution 20_ex - p.His673Pro - missense RB1_00151 -
g.156754del c.2022del deletion 20_ex - p.Glu675Asnfs*2 - frameshift RB1_00559 unknown
g.156755G>T c.2023G>T
  (Reported 2 times)		 substitution 20_ex - p.Glu675X - nonsense RB1_00020 -
g.156759T>G c.2027T>G substitution 20_ex - p.Leu676X - nonsense RB1_00951 -
g.156759_156768del c.2027_2036del Deletion 20_ex - p.(Leu676Serfs*17) - frameshift RB1_02079 germline
g.156760_156772del c.2028_2040del deletion 20_ex - p.Leu676Phefs*16 - frameshift RB1_00152 unknown
g.156761delG c.2029delG Deletion 20_ex - - - unknown RB1_01458 -
g.156761G>T c.2029G>T Substitution 20_ex - p.(Glu677*) - nonsense RB1_01911 unknown
g.156763del c.2031del
  (Reported 2 times)		 deletion 20_ex - p.Glu677Aspfs*19 - frameshift RB1_00560 unknown
g.156763dupA c.2031dupA Duplication 20_ex - p.(His678Thrfs*14) - frameshift RB1_01912 unknown
g.156765del c.2033del Deletion 20_ex - p.(His678Leufs*18) - frameshift RB1_02080 germline
g.156767_156768dup c.2035_2036dup insertion 20_ex - - - frameshift RB1_00452 germline
- c.2037_2106+1del Deletion 20_ex - p.Ile680Leufs*2 - frameshift RB1_01988 somatic
g.156769_156784dup c.2039_2054dup insertion 20_ex - p.Gln685Hisfs*12 - frameshift RB1_00154 unknown
g.156774G>A c.2042G>A substitution 20_ex - p.Trp681X - nonsense RB1_00964 -
g.15677gG>A c.2043G>A
  (Reported 2 times)		 Substitution 20_ex - p.Trp681* - nonsense RB1_01859 somatic
g.156779insT c.2047insT Insertion 20_ex - - - unknown RB1_01748 somatic
g.156783del c.2051del
  (Reported 2 times)		 deletion 20_ex - p.(Phe684Serfs*12) - frameshift RB1_00153 unknown
g.156783dup c.2051dup insertion 20_ex - - - - RB1_00890 -
g.156785C>T c.2053C>T
  (Reported 2 times)		 substitution 20_ex - p.Gln685X - frameshift RB1_01334 -
g.156786A>C c.2054A>C
  (Reported 3 times)		 substitution 20_ex - p.Gln685Pro - missense RB1_00155 -
- c.2055_2056del Deletion 20_ex - p.Thr687Profs*4 - frameshift RB1_01989 germline
g.156787_156795del c.2055_2063del deletion 20_ex - p.His686_Leu688del - in-frame RB1_00236 germline
g.156789_156812del c.2057_2080del Deletion 20_ex - p.His686_Glu693del - in-frame RB1_01871 somatic
g.156790_156798del c.2058_2066del
  (Reported 2 times)		 deletion 20_ex - - - in-frame RB1_00476 unknown
g.156791_156794del c.2059_2062del Deletion 20_ex - p.(Thr687Cysfs*8) - frameshift RB1_02081 germline
g.156792del c.2060del deletion 20_ex - - - frameshift RB1_00840 -
g.156793C>T c.2061C>T Substitution 20_ex - - - unknown RB1_01823 unknown
g.156795T>C c.2063T>C
  (Reported 2 times)		 substitution 20_ex - p.Leu688Pro - missense RB1_00405 -
g.156795T>G c.2063T>G substitution 20_ex - p.Leu688Arg - - RB1_01240 -
g.156797C>T c.2065C>T
  (Reported 2 times)		 substitution 20_ex - p.Gln689X - nonsense RB1_00942 -
g.156797ins[156698C>A^156797] c.2065_2066ins100 complex 20_ex - p.Asn690AlafsX10 - frameshift RB1_00156 -
g.153801A>G c.2069A>G substitution 20_ex - p.Asn690Ser - - RB1_01197 -
g.156804del c.2072del
  (Reported 2 times)		 deletion 20_ex - p.(Glu691Glyfs*5) - frameshift RB1_00760 unknown
g.156804_156807del c.2072_2075del deletion 20_ex - p.Glu691Valfs*4 - frameshift RB1_00784 unknown
g.156803 c.2073G>T
  (Reported 2 times)		 Substitution 20 - p.E691X - nonsense RB1_01440 -
g.156805_156806dup c.2073_2074dup Insertion 20_ex - p.(Tyr692Cysfs*5) - frameshift RB1_02082 germline
g.156806_156824dup c.2074_2092dup Insertion 20_ex - p.(Arg698Ilefs*2) - frameshift RB1_02083 germline
g.156809del c.2077del
  (Reported 2 times)		 Deletion 20_ex - p.(Glu693Asnfs*3) - unknown RB1_01401 unknown
g.156809G>T c.2077G>T Substitution 20_ex - p.Glu693X - nonsense RB1_01749 somatic
g.156809_156812dup4 c.2077_2080dup4 Duplication 20_ex - p.(Leu694Argfs*28) - frameshift RB1_01914 unknown
g.156812 c.2080_2081insCCTGCAGAACACCCTGCAGAA Insertion 20 - P.693insPAEHPAE - in-frame RB1_02113 germline
g.156815_156816 c.2083_2084del Deletion 20_ex - p.Met695Glufs* - frameshift RB1_02014 somatic
g.156816del c.2084del deletion 20_ex - p.Met695Argfs*10 - frameshift RB1_00157 unknown
g.156816T>G c.2084T>G Substitution 20_ex - p.Met695Arg - unknown RB1_01643 germline
g.156816T>A g.2084T>A Substitution 20_ex - p.Met695Lys - unknown RB1_01644 germline
g.156819_156822dup c.2087_2090dup insertion 20_ex - - - frameshift RB1_00235 germline
g.156819_156822del c.2087_2091del
  (Reported 2 times)		 deletion 20_ex - - - frameshift RB1_00585 -
g.156820del c.2088del deletion 20_ex - p.Asp697Thrfs*8 - frameshift RB1_00158 unknown
g.156821_156822del c.2089_2090del deletion 20_ex - p.Asp679Glnfs*23 - frameshift RB1_01234 unknown
g.156823C>G c.2091C>G
  (Reported 2 times)		 substitution 20_ex - variant - variant RB1_01058 -
g.156824A>T c.2092A>T Substitution 20_ex - p.Arg698Trp - missense RB1_01393 -
g.156824dup c.2092dup Insertion 20_ex - p.(Arg698Lysfs*23) - frameshift RB1_02084 germline
g.156825_156828del c.2093_2096del Deletion 20_ex - - - frameshift RB1_01442 -
g.156827del c.2095del Substitution 20_ex - p.His699Ilefs*6 - frameshift RB1_01867 germline
g.156827_156830del c.2095_2098del deletion 20_ex - - - frameshift RB1_00841 -
g.156828dup c.2096dup insertion 20_ex - - - frameshift RB1_00842 -
13: 49033826 c.2100_2101insT Insertion 20 - - - frameshift RB1_01864 somatic
g.156836C>A c.2104C>A
  (Reported 4 times)		 substitution 20_ex Splice p.Gln702Lys - missense-splice RB1_00292 -
g.156836C>T c.2104C>T
  (Reported 2 times)		 substitution 20_ex - p.Gln702X - nonsense RB1_00380 somatic
g.156836_156840delins26 c.2104_2106+2delins26 complex 20_ex - - - - RB1_01330 -
g.156837A>G c.2105A>G
  (Reported 2 times)		 substitution 20_ex RT-PCR p.Gln702Arg - missense-splice RB1_00275 -
g.156837_156840del c.2105_2108del deletion 20_ex altered splicing - - splice RB1_01318 -
- c.2106+1del Deletion 20_in - - - splice RB1_01990 germline
g.156839G>C c.2106+1G>C Substitution 20_in splice - - splice RB1_01742 somatic
g.156840T>C c.2106+2T>C
  (Reported 2 times)		 substitution 20_in altered splicing - - splice RB1_01248 -
g.156840T>G c.2106+2T>G
  (Reported 2 times)		 Substitution 20_in altered splicing - - unknown RB1_01791 somatic
1301 - 1400
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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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