View transcript variants

188 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingGene     

Transcript     

Chr     

Allele     

Type     

DNA change (genomic)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 3 Paternal (inferred) Substitution g.37035155G>A - MLH1_000001 - Soto JL +/. 01i c.116+1G>A r.spl? p.?
MLH1 NM_000249.3 3 Unknown Deletion g.37038148_37038151del - MLH1_000002 - Soto JL +/. 02 c.155_158del r.(?) p.(Lys52Argfs*4)
MLH1 NM_000249.3 3 Maternal (inferred) Substitution g.37038192G>A - MLH1_000003 - Soto JL +/+ 02 c.199G>A r.(?) p.(Gly67Arg)
MLH1 NM_000249.3 3 Unknown Substitution g.37042446A>G - MLH1_000004 - Soto JL +/. 03 c.208A>G r.(?) p.(Lys70Glu)
MLH1 NM_000249.3 3 Unknown Substitution g.37042482A>G - MLH1_000005 - Soto JL +/. 03 c.244A>G r.(?) p.(Thr82Ala)
MLH1 NM_000249.3 3 Maternal (inferred) Substitution g.37042536C>T - MLH1_000006 - Soto JL +/. 03 c.298C>T r.(?) p.(Arg100*)
MLH1 NM_000249.3 3 Paternal (inferred) Substitution g.37045935C>T - MLH1_000007 - Soto JL +/. 03 c.350C>T r.(?) p.(Thr117Met)
MLH1 NM_000249.3 3 Unknown Deletion g.37048483delG - MLH1_000008 - Soto JL +/. 05 c.382delG r.(?) p.(Ala128Glnfs*8)
MLH1 NM_000249.3 3 Unknown Deletion g.37053578delA - MLH1_000009 - Soto JL +/. 08 c.665delA r.(?) p.(Asn222Metfs*7)
MLH1 NM_000249.3 3 Paternal (inferred) Substitution g.37053589C>T - MLH1_000010 - Soto JL +/. 08 c.676C>T r.(?) p.(Arg226*)
MLH1 NM_000249.3 3 Maternal (inferred) Substitution g.37053590G>A - MLH1_000011 - Soto JL +/. 08 c.677G>A r.(?) p.Gln197Argfs*8
MLH1 NM_000249.3 3 Paternal (inferred) Substitution g.37053590G>A - MLH1_000011 - Soto JL +/. 08 c.677G>A r.(?) p.(Gln197Argfs*8)
MSH2 NM_000251.2 2 Maternal (confirmed) Deletion g.47635551_47635552delCT - MSH2_000001 - Soto JL +/. 02 c.223_224delCT r.(?) p.(Leu75Alafs*6)
MSH2 NM_000251.2 2 Unknown Substitution g.47643537C>G - MSH2_000002 - Soto JL ?/. 06 c.1045C>G r.(?) p.(Pro349Ala)
MSH2 NM_000251.2 2 Unknown Duplication g.47635563dup - MSH2_000003 - Soto JL +/. 02 c.235dup r.(?) p.(Val79Glyfs*3)
MSH2 NM_000251.2 2 Maternal (inferred) Duplication g.47637479_47637482dup - MSH2_000004 - Soto JL +/. 03 c.613_616dup r.(?) p.(Thr206Argfs*27)
MSH2 NM_000251.2 2 Maternal (confirmed) Deletion g.47639598delG - MSH2_000005 - Soto JL +/. 04 c.691delG r.(?) p.(Asp231Thrfs*15)
MSH2 NM_000251.2 2 Unknown Deletion g.47639598delG - MSH2_000005 - Soto JL +/. 04 c.691delG r.(?) p.(Asp231Thrfs*15)
MSH2 NM_000251.2 2 Paternal (inferred) Deletion g.47639639delG - MSH2_000006 - Soto JL +/. 04 c.732delG r.(?) p.(Leu244Phefs*2)
MSH2 NM_000251.2 2 Paternal (inferred) Duplication g.47639638_47639641dup - MSH2_000007 - Soto JL +/. 04 c.731_734dup r.(?) p.(Leu245Phefs*12)
MSH2 NM_000251.2 2 Maternal (confirmed) Duplication g.47639638_47639641dup - MSH2_000007 - Soto JL +/. 04 c.731_734dup r.(?) p.(Leu245Phefs*12)
MSH2 NM_000251.2 2 Unknown Substitution g.47641408G>A - MSH2_000008 - Soto JL ?/. 05 c.793G>A r.(?) p.(Val265Ile)
MSH2 NM_000251.2 2 Unknown Substitution g.47641457C>G - MSH2_000009 - Soto JL +/. 05 c.842C>G r.(?) p.(Ser281*)
MSH2 NM_000251.2 2 Paternal (confirmed) Substitution g.47641559T>A - MSH2_000010 - Soto JL +/. 05i c.942+2T>A r.spl? p.?
MSH2 NM_000251.2 2 Paternal (inferred) Substitution g.47641559T>A - MSH2_000010 - Soto JL +/. 05i c.942+2T>A r.spl? p.?
RB1 NM_000321.2 13 Unknown Substitution g.48953760C>T Alonso et al. (2001) RB1_000001 - Javier Alonso +/+ 14 c.1363C>T r.(?) p.(Arg455*)
RB1 NM_000321.2 13 Unknown Deletion g.48881495_48881498delAGAG Alonso et al. (2001) RB1_000002 - Javier Alonso +/+ 02 c.217_220delAGAG r.(?) p.(Arg73Leufs*3)
RB1 NM_000321.2 13 Unknown Duplication g.49037927_49037928dup Alonso et al. (2001) RB1_000003 - Javier Alonso +/+ 21 c.2167_2168dup r.(?) p.(Ile724Serfs*3)
RB1 NM_000321.2 13 Unknown Deletion g.48954329_48954330delAT Alonso et al. (2001) RB1_000004 - Javier Alonso +/+ 16 c.1450_1451delAT r.(?) p.(Met484Valfs*8)
RB1 NM_000321.2 13 Unknown Substitution g.49030434C>T Alonso et al. (2001) RB1_000005 - Javier Alonso +/+ 19 c.1909C>T r.(?) p.(Gln637*)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T Alonso et al. (2001) RB1_000006 - Javier Alonso +/+ 10 c.958C>T r.(?) p.(Arg320*)
RB1 NM_000321.2 13 Unknown Deletion g.49030398delA Alonso et al. (2001) RB1_000007 - Javier Alonso +/+ 19 c.1873delA r.(?) p.(Thr625Leufs*18)
RB1 NM_000321.2 13 Unknown Substitution g.48936995C>T Alonso et al. (2001) RB1_000008 - Javier Alonso +/+ 08 c.763C>T r.(?) p.(Arg255*)
RB1 NM_000321.2 13 Unknown Deletion g.48923127_48923128delAA Alonso et al. (2001) RB1_000009 - Javier Alonso +/+ 06 c.575_576delAA r.(?) p.(Lys192Serfs*10)
RB1 NM_000321.2 13 Unknown Substitution g.48955538C>T Alonso et al. (2001) RB1_000010 - Javier Alonso +/+ 17 c.1654C>T r.(?) p.(Arg552*)
RB1 NM_000321.2 13 Unknown Deletion g.48939050_48939053delAAAT Alonso et al. (2001) RB1_000011 - Javier Alonso +/+ 09 c.882_885delAAAT r.(?) p.(Lys294Asnfs*6)
RB1 NM_000321.2 13 Unknown Deletion g.49039403delC Alonso et al. (2001) RB1_000012 - Javier Alonso +/+ 23 c.2388delC r.(?) p.(Leu797Tyrfs*13)
RB1 NM_000321.2 13 Unknown Substitution g.48937093G>C Alonso et al. (2001) RB1_000013 - Javier Alonso +/+ 08 c.861G>C r.spl p.(Glu287Asp)
RB1 NM_000321.2 13 Unknown Deletion g.49027233delC Alonso et al. (2001) RB1_000014 - Javier Alonso +/+ 18 c.1800delC r.(?) p.(His600Glnfs*11)
RB1 NM_000321.2 13 Unknown Substitution g.48942685C>T Alonso et al. (2001) RB1_000015 - Javier Alonso +/+ 11 c.1072C>T r.(?) p.(Arg358*)
RB1 NM_000321.2 13 Unknown Deletion g.48923158delA Alonso et al. (2001) RB1_000016 - Javier Alonso +/+ 06 c.606delA r.(?) p.(Glu204Lysfs*10)
RB1 NM_000321.2 13 Unknown Substitution g.49039385C>A Alonso et al. (2001) RB1_000017 - Javier Alonso +/+ 23 c.2370C>A r.(?) p.(Tyr790*)
RB1 NM_000321.2 13 Unknown Deletion g.48878172delC - RB1_000018 - Javier Alonso +/+ 01 c.124delC r.(?) p.(Leu42Cysfs*23)
RB1 NM_000321.2 13 Unknown Duplication g.48878114_48878137dup - RB1_000020 - Javier Alonso +/+ 01 c.66_89dup r.(?) p.(Pro23_Glu30dup)
RB1 NM_000321.2 13 Unknown Substitution g.49039374C>T Alonso et al. (2001) RB1_000021 - Javier Alonso +/+ 23 c.2359C>T r.(?) p.(Arg787*)
RB1 NM_000321.2 13 Unknown Substitution g.48936983C>T - RB1_000026 - Carlos Rodríguez-Martín +/+ 08 c.751C>T r.(?) p.(Arg251*)
RB1 NM_000321.2 13 Unknown Substitution g.48941694T>A - RB1_000022 - Sara Monzón +/+ 10 c.1004T>A r.(?) p.(Leu335*)
RB1 NM_000321.2 13 Unknown Substitution g.48939097G>A - RB1_000023 - Sara Monzón -?/-? 09 c.929G>A r.(?) p.(Gly310Glu)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T - RB1_000006 - Sara López +/+ 10 c.958C>T r.(?) p.(Arg320*)
RB1 NM_000321.2 13 Unknown Deletion g.49039346delT - RB1_000032 - Sara López +/+ 23 c.2331delT r.(?) p.(Thr778Profs*32)
RB1 NM_000321.2 13 Unknown Substitution g.48942685C>T - RB1_000015 - Sara López +/+ 11 c.1072C>T r.(?) p.(Arg358*)
RB1 NM_000321.2 13 Unknown Substitution g.48942685C>T - RB1_000015 - Sara López +/+ 11 c.1072C>T r.(?) p.(Arg358*)
RB1 NM_000321.2 13 Unknown Deletion g.48878092_48878125del - RB1_000024 - Sara López +/+ 01 c.44_77del r.(?) p.(Ala15Glyfs*39)
RB1 NM_000321.2 13 Unknown Deletion g.48937001_48937005delCAGAA - RB1_000027 - Sara López +/+ 08 c.769_773delCAGAA r.(?) p.(Asn258Glufs*11)
RB1 NM_000321.2 13 Unknown Insertion g.49039384_49039385insA - RB1_000033 - Sara López +/+ 23 c.2369_2370insA r.(?) p.(Tyr790*)
RB1 NM_000321.2 13 Unknown Substitution g.48955550C>T - RB1_000029 - Sara López +/+ 17 c.1666C>T r.(?) p.(Arg556*)
RB1 NM_000321.2 13 Unknown Substitution g.49037966C>T - RB1_000031 - Sara López +/+ 21 c.2206C>T r.(?) p.(Gln736*)
RB1 NM_000321.2 13 Unknown Insertion g.48878131_48878132insC - RB1_000025 - Sara López +/+ 01 c.83_84insC r.(?) p.(Pro29Serfs*2)
RB1 NM_000321.2 13 Unknown Substitution g.49047507C>G - RB1_000034 - Sara López +/+ 24 c.2501C>G r.(?) p.(Ser834*)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T - RB1_000006 - Sara López +/+ 10 c.958C>T r.(?) p.(Arg320*)
RB1 NM_000321.2 13 Unknown Substitution g.49027168C>T - RB1_000030 - Sara López +/+ 18 c.1735C>T r.(?) p.(Arg579*)
RB1 NM_000321.2 13 Unknown Substitution g.48936995C>T - RB1_000008 - Sara López +/+ 08 c.763C>T r.(?) p.(Arg255*)
RB1 NM_000321.2 13 Unknown Substitution g.48939097G>A - RB1_000023 - Sara López -?/-? 09 c.929G>A r.(?) p.(Gly310Glu)
RB1 NM_000321.2 13 Unknown Substitution g.49039374C>T - RB1_000021 - Sara López +/+ 23 c.2359C>T r.(?) p.(Arg787*)
RB1 NM_000321.2 13 Paternal (confirmed) Deletion g.49030400delT - RB1_000038 - Sara López +/+ 19 c.1875delT r.(?) p.(Ala626Glnfs*17)
RB1 NM_000321.2 13 Unknown Substitution g.48955538C>T - RB1_000010 - Sara López +/+ 17 c.1654C>T r.(?) p.(Arg552*)
RB1 NM_000321.2 13 Unknown Substitution g.48953730C>T - RB1_000036 - Sara López +/+ 14 c.1333C>T r.(?) p.(Arg445*)
RB1 NM_000321.2 13 Unknown Substitution g.48955538C>T - RB1_000010 - Sara López +/+ 17 c.1654C>T r.(?) p.(Arg552*)
RB1 NM_000321.2 13 Unknown Substitution g.48941657G>T - RB1_000039 - Carlos Rodríguez-Martín +/+ 10 c.967G>T r.(?) p.(Glu323*)
RB1 NM_000321.2 13 Unknown Substitution g.49039405T>G - RB1_000040 - Carlos Rodríguez-Martín +/+ 23 c.2390T>G r.(?) p.(Leu797*)
RB1 NM_000321.2 13 Unknown Substitution g.49030434C>T - RB1_000005 - Carlos Rodríguez-Martín +/+ 19 c.1909C>T r.(?) p.(Gln637*)
RB1 NM_000321.2 13 Unknown Substitution g.48921986C>T - RB1_000042 - Carlos Rodríguez-Martín +/+ 05 c.526C>T r.(?) p.(Gln176*)
RB1 NM_000321.2 13 Unknown Duplication g.49037942_49037943dup - RB1_000043 - Carlos Rodríguez-Martín +/+ 21 c.2182_2183dup r.(?) p.(Lys729Thrfs*16)
RB1 NM_000321.2 13 Unknown Substitution g.48955538C>T - RB1_000010 - Carlos Rodríguez-Martín +/+ 17 c.1654C>T r.(?) p.(Arg552*)
RB1 NM_000321.2 13 Unknown Substitution g.49039215A>T - RB1_000044 - Carlos Rodríguez-Martín +/+ 22 c.2293A>T r.(?) p.(Lys765*)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T - RB1_000006 - Carlos Rodríguez-Martín +/+ 10 c.958C>T r.(?) p.(Arg320*)
RB1 NM_000321.2 13 Unknown Deletion g.49039489_49039496del - RB1_000045 - Carlos Rodríguez-Martín +/+ 23 c.2474_2481del r.(?) p.(Met825Lysfs*10)
RB1 NM_000321.2 13 Unknown Substitution g.48953730C>T - RB1_000036 - Carlos Rodríguez-Martín +/+ 14 c.1333C>T r.(?) p.(Arg445*)
RB1 NM_000321.2 13 Unknown Substitution g.48936995C>T - RB1_000008 - Carlos Rodríguez-Martín +/+ 08 c.763C>T r.(?) p.(Arg255*)
RB1 NM_000321.2 13 Unknown Substitution g.48919244G>T - RB1_000046 - Carlos Rodríguez-Martín +/+ 04 c.409G>T r.(?) p.(Glu137*)
RB1 NM_000321.2 13 Unknown Substitution g.49033844C>T - RB1_000047 - Carlos Rodríguez-Martín +/+ 20 c.1981C>T r.(?) p.(Arg661Trp)
RB1 NM_000321.2 13 Unknown Substitution g.49039206C>T - RB1_000048 - Carlos Rodríguez-Martín +/+ 22 c.2284C>T r.(?) p.(Gln762*)
RB1 NM_000321.2 13 Unknown Substitution g.48955550C>T - RB1_000029 - Carlos Rodríguez-Martín +/+ 17 c.1666C>T r.(?) p.(Arg556*)
RB1 NM_000321.2 13 Unknown Substitution g.49027174G>T - RB1_000049 - Carlos Rodríguez-Martín +/+ 18 c.1741G>T r.(?) p.(Gly581*)
RB1 NM_000321.2 13 Unknown Duplication g.48934202_48934203dup - RB1_000050 - Carlos Rodríguez-Martín +/+ 07 c.657_658dup r.(?) p.(Leu220Argfs*45)
RB1 NM_000321.2 13 Unknown Deletion g.48916739delG - RB1_000051 - Carlos Rodríguez-Martín +/+ 03 c.269delG r.(?) p.(Gly90Valfs*21)
RB1 NM_000321.2 13 Unknown Substitution g.48936995C>T - RB1_000008 - Carlos Rodríguez-Martín +/+ 08 c.763C>T r.(?) p.(Arg255*)
RB1 NM_000321.2 13 Unknown Substitution g.49027156C>T - RB1_000052 - Carlos Rodríguez-Martín +/+ 18 c.1723C>T r.(?) p.(Gln575*)
RB1 NM_000321.2 13 Unknown Substitution g.49050852C>T - RB1_000053 - Carlos Rodríguez-Martín +/+ 25 c.2536C>T r.(?) p.(Gln846*)
RB1 NM_000321.2 13 Unknown Substitution g.48878067C>T - RB1_000054 - Carlos Rodríguez-Martín +/+ 01 c.19C>T r.(?) p.(Arg7*)
RB1 NM_000321.2 13 Unknown Substitution g.48878139G>T - RB1_000055 - Javier Alonso +/+ 01 c.91G>T r.(?) p.(Glu31*)
RB1 NM_000321.2 13 Unknown Substitution g.48878103G>T - RB1_000057 - GEMA GOMEZ MARIANO +/+ 01 c.55G>T r.(?) p.(Glu19*)
RB1 NM_000321.2 13 Unknown Substitution g.48937001C>T Alonso et al. (2005) RB1_000058 - GEMA GOMEZ MARIANO +/+ 08 c.769C>T r.(?) p.(Gln257*)
RB1 NM_000321.2 13 Unknown Deletion g.48939099delC Alonso et al. (2005) RB1_000059 - GEMA GOMEZ MARIANO +/+ 09 c.931delC r.(?) p.(Leu311Phefs*21)
RB1 NM_000321.2 13 Unknown Substitution g.48878185G>A - RB1_000060 - GEMA GOMEZ MARIANO ?/? 01 c.137G>A r.(?) p.(Arg46Lys)
RB1 NM_000321.2 13 Unknown Duplication g.49030484dup Alonso et al. (2005) RB1_000072 - GEMA GOMEZ MARIANO +/+ 19 c.1959dup r.(?) p.(Val654Serfs*14)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T Alonso et al. (2005) RB1_000006 - GEMA GOMEZ MARIANO +/+ 10 c.958C>T r.(?) p.(Arg320*)
RB1 NM_000321.2 13 Unknown Substitution g.48942685C>T Alonso et al. (2005) RB1_000015 - GEMA GOMEZ MARIANO +/+ 11 c.1072C>T r.(?) p.(Arg358*)
RB1 NM_000321.2 13 Unknown Deletion g.49050943_49050944delGC Alonso et al. (2005) RB1_000063 - GEMA GOMEZ MARIANO +/+ 25 c.2627_2628delGC r.(?) p.(Arg876Leufs*2)
RB1 NM_000321.2 13 Unknown Substitution g.48941648C>T Alonso et al. (2005) RB1_000006 - GEMA GOMEZ MARIANO +/+ 10 c.958C>T r.(?) p.(Arg320*)
Legend   « First ‹ Prev     1 2     Next › Last »