All variants affecting transcripts

180 entries on 2 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Effect Remarks     
BRCA1 NM_007294.3 17 Unknown g.43099914G>A Palmero, E.I. 2016 BRCA1_000001 - - Admin ./+? i7 c.442-34C>T r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43099898G>A Palmero, E.I. 2016 BRCA1_000002 - - Admin ./? i7 c.442-18C>T r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43094464T>C Palmero, E.I. 2016 BRCA1_000003 - - Admin ./- 11 c.1067A>G r.(?) p.(Gln356Arg) -
BRCA1 NM_007294.3 17 Unknown g.43093449G>A Palmero, E.I. 2016 BRCA1_000004 - - Admin ./- 11 c.2082C>T r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43093220A>G Palmero, E.I. 2016 BRCA1_000005 - - Admin ./. 11 c.2311T>C r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43092919G>A Palmero, E.I. 2016 BRCA1_000006 - - Admin ./- 11 c.2612C>T r.(?) p.(Pro871Leu) -
BRCA1 NM_007294.3 17 Unknown g.43092418T>C Palmero, E.I. 2016 BRCA1_000007 - - Admin ./- 11 c.3113A>G r.(?) p.(Glu1038Gly) -
BRCA1 NM_007294.3 17 Unknown g.43092412C>T Palmero, E.I. 2016 BRCA1_000008 - - Admin ./- 11 c.3119G>A r.(?) p.(Ser1040Asn) -
BRCA1 NM_007294.3 17 Unknown g.43091983T>C Palmero, E.I. 2016 BRCA1_000009 - - Admin ./- 11 c.3548A>G r.(?) p.(Lys1183Arg) -
BRCA1 NM_007294.3 17 Unknown g.43082453A>G Palmero, E.I. 2016 BRCA1_000010 - - Admin ./- 13 c.4308T>C r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43071077T>C Palmero, E.I. 2016 BRCA1_000011 - - Admin -/. 16 c.4837A>G r.(?) p.(Ser1613Gly) -
BRCA1 NM_007294.3 17 Unknown g.43063808C>T Palmero, E.I. 2016 BRCA1_000012 - - Admin -/. i18 c.5152+66G>A r.(=) p.(=) -
BRCA1 NM_007294.3 17 Unknown g.43104895_43104896delCA Fernandes, G.C. BRCA1_000013 - - Admin ./. 5 c.273_274delTG r.(?) p.(Ala92Phefs*4) -
BRCA1 NM_007294.3 17 Unknown g.43094737_43094740delGAAC Fernandes, G.C. BRCA1_000014 - - Admin ./. 10 c.791_794delGTTC r.(?) p.(Ser264Metfs*33) -
BRCA1 NM_007294.3 17 Unknown g.43093919G>A Fernandes, G.C. BRCA1_000015 - - Admin ./. 10 c.1612C>T r.(?) p.(Gln538*) -
BRCA1 NM_007294.3 17 Unknown g.43093844G>A Fernandes, G.C. BRCA1_000016 - - Admin ./. 10 c.1687C>T r.(?) p.(Gln563*) -
BRCA1 NM_007294.3 17 Unknown g.43092801_43092804delTTGA Fernandes, G.C. BRCA1_000017 - - Admin ./. 10 c.2727_2730delTCAA r.(?) p.(Asn909Lysfs*90) -
BRCA1 NM_007294.3 17 Unknown g.43092302_43092303delCT Fernandes, G.C. BRCA1_000018 - - Admin ./. 10 c.3228_3229delAG r.(?) p.(Gly1077Alafs*8) -
BRCA1 NM_007294.3 17 Unknown g.43092197_43092200delCTTG Fernandes, G.C. BRCA1_000019 - - Admin ./. 10 c.3331_3334delCAAG r.(?) p.(Gln1111Asnfs*5) -
BRCA1 NM_007294.3 17 Unknown g.43091997delG Fernandes, G.C. BRCA1_000020 - - Admin ./. 10 c.3534delC r.(?) p.(Ser1178Argfs*32) -
BRCA1 NM_007294.3 17 Unknown g.43091933G>A Fernandes, G.C. BRCA1_000021 - - Admin ./. 10 c.3598C>T r.(?) p.(Gln1200*) -
BRCA1 NM_007294.3 17 Unknown g.43090946G>A Fernandes, G.C. BRCA1_000022 - - Admin ./. 11 c.4183C>T r.(?) p.(Gln1395*) -
BRCA1 NM_007294.3 17 Unknown g.43082403C>T Fernandes, G.C. BRCA1_000023 - - Admin ./. 12i c.4357+1G>A r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43076488C>G Fernandes, G.C. BRCA1_000024 - - Admin ./. 13 c.4484G>C r.(?) p.(Arg1495Thr) -
BRCA1 NM_007294.3 17 Unknown g.43074343delT Fernandes, G.C. BRCA1_000025 - - Admin ./. 14 c.4663delA r.(?) p.(Arg1555Glyfs*4) -
BRCA1 NM_007294.3 17 Unknown g.43071175_43071178delGAAG Fernandes, G.C. BRCA1_000026 - - Admin ./. 15 c.4736_4739delCTTC r.(?) p.(Pro1579Leufs*21) -
BRCA1 NM_007294.3 17 Unknown g.43067618_43067620delAAC Fernandes, G.C. BRCA1_000027 - - Admin ./. 16 c.5062_5064delGTT r.(?) p.(Val1688del) -
BRCA1 NM_007294.3 17 Unknown g.43063346_43063349delTTTC Fernandes, G.C. BRCA1_000028 - - Admin ./. 18 c.5177_5180delGAAA r.(?) p.(Arg1726Lysfs*3) -
BRCA1 NM_007294.3 17 Unknown g.43057078G>A Fernandes, G.C. BRCA1_000029 - - Admin ./. 19 c.5251C>T r.(?) p.(Arg1751*) -
BRCA1 NM_007294.3 17 Unknown g.43057063dupG Fernandes, G.C. BRCA1_000030 - - Admin ./. 19 c.5266dupC r.(?) p.(Gln1756Profs*74) -
BRCA1 NM_007294.3 17 Unknown g.43124032A>G Fernandes, G. C. 2016 BRCA1_000031 - - Admin +/+ 1 c.65T>C r.(?) p.(Leu22Ser) -
BRCA1 NM_007294.3 17 Unknown g.43106487A>C Fernandes, G. C. 2016 BRCA1_000032 - - Admin +?/+? - c.181T>G r.(?) p.(Cys61Gly) -
BRCA1 NM_007294.3 17 Unknown g.43106480A>T Fernandes, G. C. 2016 BRCA1_000033 - - Admin +?/+? - c.188T>A r.(?) p.(Leu63*) -
BRCA1 NM_007294.3 17 Unknown g.43099851_43099852delAG Fernandes, G. C. 2016 BRCA1_000034 - - Admin +/+ - c.470_471delCT r.(?) p.(Ser157*) -
BRCA1 NM_007294.3 17 Unknown g.43094443delT Fernandes, G. C. 2016 BRCA1_000035 - - Admin +/+ - c.1088delA r.(?) p.(Asn363Ilefs*11) -
BRCA1 NM_007294.3 17 Unknown g.43093844G>A Fernandes, G. C. 2016 BRCA1_000016 - - Admin +/+ - c.1687C>T r.(?) p.(Gln563*) -
BRCA1 NM_007294.3 17 Unknown g.43093619delC Fernandes, G. C. 2016 BRCA1_000036 - - Admin +/+ - c.1912delG r.(?) p.(Glu638Asnfs*13) -
BRCA1 NM_007294.3 17 Unknown g.43093569dupC Fernandes, G. C. 2016 BRCA1_000037 - - Admin +/+ - c.1962dupG r.(?) p.(Tyr655Valfs*18) -
BRCA1 NM_007294.3 17 Unknown g.43093125_43093126delCA Fernandes, G. C. 2016 BRCA1_000038 - - Admin +/+ - c.2405_2406delTG r.(?) p.(Val802Glufs*7) -
BRCA1 NM_007294.3 17 Unknown g.43092292A>T Fernandes, G. C. 2016 BRCA1_000039 - - Admin +/+ - c.3239T>A r.(?) p.(Leu1080*) -
BRCA1 NM_007294.3 17 Unknown g.43092197_43092200delCTTG Fernandes, G. C. 2016 BRCA1_000019 - - Admin +/+ - c.3331_3334delCAAG r.(?) p.(Gln1111Asnfs*5) -
BRCA1 NM_007294.3 17 Unknown g.43091767dupT Fernandes, G. C. 2016 BRCA1_000040 - - Admin +/+ - c.3764dupA r.(?) p.(Asn1255Lysfs*12) -
BRCA1 NM_007294.3 17 Unknown g.43091614_43091615delAA Fernandes, G. C. 2016 BRCA1_000041 - - Admin +/+ - c.3916_3917delTT r.(?) p.(Leu1306Aspfs*23) -
BRCA1 NM_007294.3 17 Unknown g.43090963_43090964delCT Fernandes, G. C. 2016 BRCA1_000042 - - Admin +/+ - c.4165_4166delAG r.(?) p.(Ser1389*) -
BRCA1 NM_007294.3 17 Unknown g.43082403C>G Fernandes, G. C. 2016 BRCA1_000043 - - Admin +/+ - c.4357+1G>C r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43070932_43070950del19 Fernandes, G. C. 2016 BRCA1_000044 - - Admin +/+ - c.4964_4982del19 r.(?) p.(Ser1655Tyrfs*16) -
BRCA1 NM_007294.3 17 Unknown g.43067649_43067652delTTAG Fernandes, G. C. 2016 BRCA1_000045 - - Admin +/+ - c.5030_5033delCTAA r.(?) p.(Thr1677Ilefs*2) -
BRCA1 NM_007294.3 17 Unknown g.43063365delG Fernandes, G. C. 2016 BRCA1_000046 - - Admin +/+ - c.5161delC r.(?) p.(Gln1721Serfs*9) -
BRCA1 NM_007294.3 17 Unknown g.43057078G>A Fernandes, G. C. 2016 BRCA1_000029 - - Admin +/+ - c.5251C>T r.(?) p.(Arg1751*) -
BRCA1 NM_007294.3 17 Unknown g.43057063dupG Fernandes, G. C. 2016 BRCA1_000030 - - Admin +/+ - c.5266dupC r.(?) p.(Gln1756Profs*74) -
BRCA1 NM_007294.3 17 Unknown g.43047666C>T Fernandes, G. C. 2016 BRCA1_000047 - - Admin +/+ - c.5444G>A r.(?) p.(Trp1815*) -
BRCA1 NM_007294.3 17 Unknown g.43047646_43047647insA Fernandes, G. C. 2016 BRCA1_000048 - - Admin +/+ - c.5463_5464insT r.(?) p.(His1822Serfs*8) -
BRCA1 NM_007294.3 17 Unknown g.43063367_43063368insT Fernandes, G. C. 2016 BRCA1_000049 - - Admin +/+ - c.5158_5159insA r.(?) p.(Thr1720Asnfs*5) -
BRCA1 NM_007294.3 17 Unknown g.43106478A>G Fernandes, G. C. 2016 BRCA1_000050 - - Admin ?/? - c.190T>C r.(?) p.(Cys64Arg) -
BRCA1 NM_007294.3 17 Unknown g.43094720C>T Fernandes, G. C. 2016 BRCA1_000051 - - Admin ?/? - c.811G>A r.(?) p.(Val271Met) -
BRCA1 NM_007294.3 17 Unknown g.43093930T>C Fernandes, G. C. 2016 BRCA1_000052 - - Admin ?/? - c.1601A>G r.(?) p.(Gln534Arg) -
BRCA1 NM_007294.3 17 Unknown g.43093883T>G Fernandes, G. C. 2016 BRCA1_000053 - - Admin ?/? - c.1648A>C r.(?) p.(Asn550His) -
BRCA1 NM_007294.3 17 Unknown g.43091708T>C Fernandes, G. C. 2016 BRCA1_000054 - - Admin ?/? - c.3823A>G r.(?) p.(Ile1275Val) -
BRCA1 NM_007294.3 17 Unknown g.43076488C>T Fernandes, G. C. 2016 BRCA1_000055 - - Admin ?/? - c.4484G>A r.(?) p.(Arg1495Lys) -
BRCA1 NM_007294.3 17 Unknown g.43067618_43067620delAAC Fernandes, G. C. 2016 BRCA1_000027 - - Admin ?/? - c.5062_5064delGTT r.(?) p.(Val1688del) -
BRCA1 NM_007294.3 17 Unknown g.43063930C>T Fernandes, G. C. 2016 BRCA1_000056 - - Admin ?/? - c.5096G>A r.(?) p.(Arg1699Gln) -
BRCA1 NM_007294.3 17 Unknown g.43063375T>G Fernandes, G. C. 2016 BRCA1_000057 - - Admin ?/? - c.5153-2A>C r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43047680_43047685delCACAAC Fernandes, G. C. 2016 BRCA1_000058 - - Admin ?/? - c.5425_5430delGTTGTG r.(?) p.(Val1809_Val1810del) -
BRCA1 NM_007294.3 17 Unknown g.43045761A>G Fernandes, G. C. 2016 BRCA1_000059 - - Admin ?/? - c.5509T>C r.(?) p.(Trp1837Arg) -
BRCA1 NM_007294.3 17 Unknown g.43124096T>C Brianese, R.C. 2017 BRCA1_000067 - - Admin +/+ 2 c.1A>G r.? p.(Met1?) -
BRCA1 NM_007294.3 17 Unknown g.43124031dupT Brianese, R.C. 2017 BRCA1_000068 - - Admin +/+ 2 c.66dupA r.(?) p.(Glu23Argfs*18) -
BRCA1 NM_007294.3 17 Unknown g.43106487A>C Brianese, R.C. 2017 BRCA1_000032 - - Admin +/+ 5 c.181T>G r.(?) p.(Cys61Gly) -
BRCA1 NM_007294.3 17 Unknown g.43094407_43094408delinsT Brianese, R.C. 2017 BRCA1_000069 - - Admin +/+ 11 c.1123_1124delinsA r.(?) p.(Leu375Lysfs*19) -
BRCA1 NM_007294.3 17 Unknown g.43093125_43093126delCA Brianese, R.C. 2017 BRCA1_000038 - - Admin +/+ 11 c.2405_2406delTG r.(?) p.(Val802Glufs*7) -
BRCA1 NM_007294.3 17 Unknown g.43045767G>A Brianese, R.C. 2017 BRCA1_000070 - - Admin +/+ 24 c.5503C>T r.(?) p.(Arg1835*) -
BRCA1 NM_007294.3 17 Unknown g.43090946G>A Brianese, R.C. 2017 BRCA1_000022 - - Admin +/+ 12 c.4183C>T r.(?) p.(Gln1395*) -
BRCA1 NM_007294.3 17 Unknown g.43091434C>T Brianese, R.C. 2017 BRCA1_000071 - - Admin +/+ 11i c.4096+1G>A r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43076488C>A Brianese, R.C. 2017 BRCA1_000062 - - Admin +/+ 14 c.4484G>T r.(?) p.(Arg1495Met) -
BRCA1 NM_007294.3 17 Unknown g.43106457T>C Brianese, R.C. 2017 BRCA1_000072 - - Admin +/+ 5 c.211A>G r.(?) p.(Arg71Gly) -
BRCA1 NM_007294.3 17 Unknown g.43094839_43094842delGTCT Brianese, R.C. 2017 BRCA1_000073 - - Admin +/+ 11 c.689_692delAGAC r.(?) p.(Glu230Glyfs*3) -
BRCA1 NM_007294.3 17 Unknown g.43106487A>C Brianese, R.C. 2017 BRCA1_000032 - - Admin +/+ 5 c.181T>G r.(?) p.(Cys61Gly) -
BRCA1 NM_007294.3 17 Unknown g.43057063dupG Brianese, R.C. 2017 BRCA1_000030 - - Admin +/+ 20 c.5266dupC r.(?) p.(Gln1756Profs*74) -
BRCA1 NM_007294.3 17 Unknown g.43106480A>T Brianese, R.C. 2017 BRCA1_000033 - - Admin +/+ 5 c.188T>A r.(?) p.(Leu63*) -
BRCA1 NM_007294.3 17 Unknown g.43106487A>C Brianese, R.C. 2017 BRCA1_000032 - - Admin +/+ 5 c.181T>G r.(?) p.(Cys61Gly) -
BRCA1 NM_007294.3 17 Unknown g.43082474G>T Brianese, R.C. 2017 BRCA1_000074 - - Admin +/+ 13 c.4287C>A r.(?) p.(Tyr1429*) -
BRCA1 NM_007294.3 17 Unknown g.43094737_43094740delGAAC Maistro, S. 2016 BRCA1_000014 - - folgueira ./. - c.791_794delGTTC r.(?) p.(Ser264Metfs*33) -
BRCA1 NM_007294.3 17 Unknown g.43094569_43094570delCA Maistro, S. 2016 BRCA1_000060 - - folgueira ./. - c.961_962delTG r.(?) p.(Trp321Glyfs*4) -
BRCA1 NM_007294.3 17 Unknown g.43093844G>A Maistro, S. 2016 BRCA1_000016 - - folgueira ./. - c.1687C>T r.(?) p.(Gln563*) -
BRCA1 NM_007294.3 17 Unknown g.43093316T>A Maistro, S. 2016 BRCA1_000061 - - folgueira ./. - c.2215A>T r.(?) p.(Lys739*) -
BRCA1 NM_007294.3 17 Unknown g.43092197_43092200delCTTG Maistro, S. 2016 BRCA1_000019 - - folgueira ./. - c.3331_3334delCAAG r.(?) p.(Gln1111Asnfs*5) -
BRCA1 NM_007294.3 17 Unknown g.43076488C>A Maistro, S. 2016 BRCA1_000062 - - folgueira ./. - c.4484G>T r.(?) p.(Arg1495Met) -
BRCA1 NM_007294.3 17 Unknown g.43074330C>T Maistro, S. 2016 BRCA1_000063 - - folgueira ./. - c.4675+1G>A r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43067606A>G Maistro, S. 2016 BRCA1_000064 - - folgueira ./. - c.5074+2T>C r.spl? p.? -
BRCA1 NM_007294.3 17 Unknown g.43063928delT Maistro, S. 2016 BRCA1_000065 - - folgueira ./. - c.5098delA r.(?) p.(Thr1700Hisfs*2) -
BRCA1 NM_007294.3 17 Unknown g.43057063dupG Maistro, S. 2016 BRCA1_000030 - - folgueira ./. - c.5266dupC r.(?) p.(Gln1756Profs*74) -
BRCA1 NM_007294.3 17 Unknown g.43049179A>G Maistro, S. 2016 BRCA1_000066 - - folgueira ?/? - c.5348T>C r.(?) p.(Met1783Thr) -
BRCA2 NM_000059.3 13 Unknown g.32316435G>A Palmero, E.I. 2016 BRCA2_000001 - - Admin -/. 5'UTR c.-26G>A r.(=) p.(=) -
BRCA2 NM_000059.3 13 Unknown g.32326012T>C Palmero, E.I. 2016 BRCA2_000002 - - Admin ?/. i4 c.426-89T>C r.(=) p.(=) -
BRCA2 NM_000059.3 13 Unknown g.32325251A>C Palmero, E.I. 2016 BRCA2_000003 - - Admin ?/. i4 c.425+67A>C r.(=) p.(=) -
BRCA2 NM_000059.3 13 Unknown g.32326296C>T Palmero, E.I. 2016 BRCA2_000004 - - Admin -?/. i6 c.516+14C>T r.(=) p.(=) -
BRCA2 NM_000059.3 13 Unknown g.32332343A>C Palmero, E.I. 2016 BRCA2_000005 - - Admin -/. 10 c.865A>C r.(?) p.(Asn289His) -
BRCA2 NM_000059.3 13 Unknown g.32332592A>C Palmero, E.I. 2016 BRCA2_000006 - - Admin -/. 10 c.1114A>C r.(?) p.(Asn372His) -
BRCA2 NM_000059.3 13 Unknown g.32332843A>G Palmero, E.I. 2016 BRCA2_000007 - - Admin -/. 10 c.1365A>G r.(=) p.(=) -
BRCA2 NM_000059.3 13 Unknown g.32332880A>G Palmero, E.I. 2016 BRCA2_000008 - - Admin ?/. 10 c.1402A>G r.(?) p.(Arg468Gly) -
BRCA2 NM_000059.3 13 Unknown g.32336191T>C Palmero, E.I. 2016 BRCA2_000009 - - Admin +?/. 10 c.1910-74T>C r.(=) p.(=) -
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