View all variants affecting transcripts

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

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 11 Unknown g.17434263G>A - ABCC8_000001 - Florian Bayersdorfer +/+ 21 c.2506C>T r.(?) p.(Arg836*)
ABCC8 NM_000352.3 11 Unknown g.17464335C>T - ABCC8_000002 - Florian Bayersdorfer +/+ 10 c.1562G>A r.(?) p.(Arg521Gln)
AIP NM_003977.2 11 Unknown g.67250676G>A - AIP_000001 - Florian Bayersdorfer ?/? 1 c.47G>A r.(?) p.(Arg16His)
AIP NM_003977.2 11 Unknown g.67257602C>T - AIP_000002 - Florian Bayersdorfer ?/? 4 c.562C>T r.(?) p.(Arg188Trp)
ATM NM_000051.3 11 Unknown g.108098576C>G - ATM_000001 - Florian Bayersdorfer -?/-? 3 c.146C>G r.(?) p.(Ser49Cys)
ATM NM_000051.3 11 Unknown g.108098576C>G - ATM_000001 - Florian Bayersdorfer ./. 3 c.146C>G r.(?) p.(Ser49Cys)
BAP1 NM_004656.3 3 Unknown g.52436442G>A - BAP1_000001 - Florian Bayersdorfer ?/? 17 c.2057-5C>T r.spl? p.?
BLK NM_001715.2 8 Unknown g.11418928C>T - BLK_000001 - Florian Bayersdorfer ?/+ 11 c.1147C>T r.(?) p.(Arg383*)
BRCA1 NM_007294.3 17 Unknown g.41243844_41243848delTTTAC - BRCA1_000001 - Florian Bayersdorfer +/+ 10 c.3700_3704delGTAAA r.(?) p.(Val1234Glnfs*8)
BRCA1 NM_007294.3 17 Unknown g.41226347C>T - BRCA1_000002 - Florian Bayersdorfer +/+ 14 c.4675+1G>A r.spl? p.?
BRCA1 NM_007294.3 17 Unknown g.41243786delC - BRCA1_000003 - Florian Bayersdorfer ./+ 10 c.3762delG r.(?) p.(Asn1255Thrfs*9)
BRCA1 NM_007294.3 17 Unknown g.41199741G>C - BRCA1_000004 - Florian Bayersdorfer ./? 22 c.5407-21C>G r.(=) p.(=)
BRCA1 NM_007294.3 17 Unknown g.41276045_41276046delCT - BRCA1_000005 - Florian Bayersdorfer +/+ 2 c.68_69delAG r.(?) p.(Glu23Valfs*17)
BRCA1 NM_007294.3 17 Unknown g.41258504A>C - BRCA1_000006 - Florian Bayersdorfer +/+ 4 c.181T>G r.(?) p.(Cys61Gly)
BRCA1 NM_007294.3 17 Unknown g.41245845G>C - BRCA1_000007 - Florian Bayersdorfer ./. 10 c.1703C>G r.(?) p.(Pro568Arg)
BRCA1 NM_007294.3 17 Unknown g.41234455G>A - BRCA1_000008 - Florian Bayersdorfer ./. 12 c.4323C>T r.(=) p.(=)
BRCA1 NM_007294.3 17 Unknown g.41244057_41244067delCTAGTATCTTC - BRCA1_000009 - Florian Bayersdorfer +/+ 10 c.3481_3491delGAAGATACTAG r.(?) p.(Glu1161Phefs*3)
BRCA1 NM_007294.3 17 Unknown g.41245446del - BRCA1_000010 - Florian Bayersdorfer ./+ 10 c.2102del r.(?) p.(Lys701Serfs*2)
BRCA1 NM_007294.3 17 Unknown g.41246157G>A - BRCA1_000011 - Florian Bayersdorfer ?/? 10 c.1391C>T r.(?) p.(Thr464Ile)
BRCA1 NM_007294.3 17 Unknown g.41244029A>C - BRCA1_000012 - Florian Bayersdorfer ?/? 10 c.3519T>G r.(?) p.(Ser1173Arg)
BRCA1 NM_007294.3 17 Unknown g.41244029A>C - BRCA1_000012 - Florian Bayersdorfer ./? 10 c.3519T>G r.(?) p.(Ser1173Arg)
BRCA2 NM_000059.3 13 Unknown g.32912339_32912340delGT - BRCA2_000002 - Florian Bayersdorfer +/+ 11 c.3847_3848delGT r.(?) p.(Val1283Lysfs*2)
BRCA2 NM_000059.3 13 Unknown g.32914133_32914136delAAAT - BRCA2_000003 - Florian Bayersdorfer +/+ 2 c.5641_5644delAAAT r.(?) p.(Lys1881Glnfs*27)
BRCA2 NM_000059.3 13 Unknown g.32913562A>C - BRCA2_000004 - Florian Bayersdorfer ?/? 11 c.5070A>C r.(?) p.(Lys1690Asn)
BRCA2 NM_000059.3 13 Unknown g.32972626A>T - BRCA2_000005 - Florian Bayersdorfer ?/? 27 c.9976A>T r.(?) p.(Lys3326*)
BRCA2 NM_000059.3 13 Unknown g.32914767_32914768delTT - BRCA2_000006 - Florian Bayersdorfer +/+ 11 c.6275_6276delTT r.(?) p.(Leu2092Profs*7)
BRCA2 NM_000059.3 13 Unknown g.32907428dupA - BRCA2_000007 - Florian Bayersdorfer +/+ 10 c.1813dupA r.(?) p.(Ile605Asnfs*11)
BRCA2 NM_000059.3 13 Unknown g.32914343_32914346delAGTT - BRCA2_000008 - Florian Bayersdorfer +/+ 11 c.5851_5854delAGTT r.(?) p.(Ser1951Trpfs*11)
BRCA2 NM_000059.3 13 Unknown g.32912331A>T - BRCA2_000009 - Florian Bayersdorfer ?/? 11 c.3839A>T r.(?) p.(Asp1280Val)
BRCA2 NM_000059.3 13 Unknown g.32912799T>C - BRCA2_000010 - Florian Bayersdorfer ./. 11 c.4307T>C r.(?) p.(Ile1436Thr)
BRCA2 NM_000059.3 13 Unknown g.32893207T>A - BRCA2_000011 - Florian Bayersdorfer -?/? 2i c.68-7T>A r.(=) p.(=)
BRCA2 NM_000059.3 13 Unknown g.32900274_32900275delAA - BRCA2_000012 - Florian Bayersdorfer ./+ 5 c.462_463delAA r.(?) p.(Asp156*)
BRCA2 NM_000059.3 13 Unknown g.32969071G>C - BRCA2_000013 - Florian Bayersdorfer ./+? 25 c.9501+1G>C r.spl? p.?
BRCA2 NM_000059.3 13 Unknown g.32907390A>T - BRCA2_000014 - Florian Bayersdorfer ./. 10 c.1775A>T r.(?) p.(Tyr592Phe)
BRCA2 NM_000059.3 13 Unknown g.32914044T>G - BRCA2_000015 - Florian Bayersdorfer ./. 11 c.5552T>G r.(?) p.(Ile1851Ser)
BRCA2 NM_000059.3 13 Unknown g.32910591T>G - BRCA2_000016 - Florian Bayersdorfer +/+ 11 c.2099T>G r.(?) p.(Leu700*)
BRCA2 NM_000059.3 13 Unknown g.32911300_32911303delACAA - BRCA2_000017 - Florian Bayersdorfer +/+ 11 c.2808_2811delACAA r.(?) p.(Ala938Profs*21)
BRCA2 NM_000059.3 13 Unknown g.32928997_32936831del - BRCA2_000018 - Florian Bayersdorfer ./+ 14 c.7008-1_7976+1del r.spl? p.(Thr2337_Arg2659del)
BRIP1 NM_032043.2 17 Unknown g.59937223G>C - BRIP1_000001 - Florian Bayersdorfer ./+? 3 c.139C>G r.(?) p.(Pro47Ala)
CDH1 NM_004360.3 16 Unknown g.68849590A>C - CDH1_000001 - Florian Bayersdorfer ./. 10 c.1493A>C r.(?) p.(Asp498Ala)
CDH1 NM_004360.3 16 Unknown g.68845646G>A - CDH1_000002 - Florian Bayersdorfer ?/? 7 c.892G>A r.(?) p.(Ala298Thr)
CEL NM_001807.4 9 Unknown g.135939939A>C - CEL_000001 - Sabine Heber +?/+? 2 c.224A>C r.(?) p.(Gln75Pro)
CFTR NM_000492.3 7 Unknown g.117306941_117306944delCACT - CFTR_000001 - Florian Bayersdorfer ?/. 27 c.4243-21_4243-18delCACT r.(=) p.(=)
CFTR NM_000492.3 7 Unknown g.117234995T>G - CFTR_000002 - Florian Bayersdorfer ?/? 15 c.2502T>G r.(?) p.(Phe834Leu)
CFTR NM_000492.3 7 Unknown g.117230411G>C - CFTR_000003 - Florian Bayersdorfer ./? 13 c.1684G>C r.(?) p.(Val562Leu)
CHEK2 NM_007194.3 22 Unknown g.29121087A>G - CHEK2_000001 - Florian Bayersdorfer +?/? 4 c.470T>C r.(?) p.(Ile157Thr)
CHEK2 NM_007194.3 22 Unknown g.29105987_29105990delTACT - CHEK2_000002 - Florian Bayersdorfer +?/+? 7 c.846+4_846+7delAGTA r.spl? p.?
CHEK2 NM_007194.3 22 Unknown g.29091178C>A - CHEK2_000003 - Florian Bayersdorfer ./. 12 c.1312G>T r.(?) p.(Asp438Tyr)
CHEK2 NM_007194.3 22 Unknown g.29091857delG - CHEK2_000004 - Florian Bayersdorfer +/+ 11 c.1100delC r.(?) p.(Thr367Metfs*15)
CHEK2 NM_007194.3 22 Unknown g.29090015C>T - CHEK2_000006 - Florian Bayersdorfer ./. 13 c.1461+5G>A r.spl? p.?
CHEK2 NM_007194.3 22 Unknown g.29092868_29095946del - CHEK2_000008 - Florian Bayersdorfer +/+ 9 c.909-21_1095+21del r.(?) p.(Met304Leufs*16)
COL5A2 NM_000393.3 2 Unknown g.189922152C>A - COL5A2_000001 - Florian Bayersdorfer ./+? 34 c.2231G>T r.(?) p.(Gly744Val)
CPA1 NM_001868.2 7 Unknown g.130024398C>T - CPA1_000001 - Florian Bayersdorfer ./+? 7 c.718C>T r.(?) p.(Arg240Trp)
ERCC3 NM_000122.1 2 Unknown g.128017009C>T - ERCC3_000001 - Florian Bayersdorfer ?/? 14 c.2080G>A r.(?) p.(Ala694Thr)
ERCC3 NM_000122.1 2 Unknown g.128050332G>A - ERCC3_000002 - Florian Bayersdorfer +/+ 3 c.325C>T r.(?) p.(Arg109*)
FANCA NM_000135.2 16 Unknown g.89842224_89883123del - FANCA_000001 - Florian Bayersdorfer ?/+ 1 c.-100_1827-1del r.spl? p.?
FANCM NM_020937.2 14 Unknown g.45658326C>T - FANCM_000001 - Florian Bayersdorfer +?/+? 20 c.5101C>T r.(?) p.(Gln1701*)
FBN1 NM_000138.4 15 Unknown g.48720609G>A - FBN1_000001 - Florian Bayersdorfer ?/+? 57 c.6931C>T r.(?) p.(Arg2311Cys)
FBN1 NM_000138.4 15 Unknown g.(48829845_48888553)_(48938908_?)del - FBN1_000002 - Florian Bayersdorfer ./+? 1_6i c.-1318_465del r.? p.?
GCK NM_000162.3 7 Unknown g.44192019C>T - GCK_000001 - Florian Bayersdorfer +/+ 3 c.214G>A r.(?) p.(Gly72Arg)
GCK NM_000162.3 7 Unknown g.44185198_44185215del - GCK_000002 - Florian Bayersdorfer ./+? 9 c.1134_1151del r.(?) p.(Ala379_Ala384del)
GCK NM_000162.3 7 Unknown g.44190645G>A - GCK_000003 - Florian Bayersdorfer ./? 4 c.393C>T r.(=) p.(=)
HBA2 NM_000517.4 16 Unknown g.223597T>A Kanavakis E et al. 1996 HBA2_000001 - Sabine Heber +/+ 3 c.427T>A r.(?) p.(*143Lysext*31)
HNF1A NM_000545.5 12 Unknown g.121435388_121435391dupAGCC - HNF1A_000001 - Sabine Heber ./+ 7 c.1421_1424dupAGCC r.(?) p.(Leu476Alafs*74)
HNF1A NM_000545.5 12 Unknown g.121426645G>A - HNF1A_000002 - Sabine Heber +?/+? 2 c.336G>A r.(=) p.(Pro112=)
HNF1A NM_000545.5 12 Parent #1 g.121438921_121438928delAGCCACCT - HNF1A_000003 - Sabine Heber +?/+? 10 c.1822_1829delAGCCACCT r.(?) p.(Ser608Alafs*38)
HNF1A NM_000545.5 12 Unknown g.121416568A>G - HNF1A_000004 - Sabine Heber -/+? 1 c.-4A>G r.(=) p.(=)
HNF1A NM_000545.5 12 Unknown g.121426691A>T - HNF1A_000005 - Florian Bayersdorfer ./+? E2 c.382A>T r.(?) p.(Ile128Phe)
HNF1B NM_000458.2 17 Unknown g.36093699A>G - HNF1B_000001 - Sabine Heber +?/+? 3 c.660T>C r.(=) p.(Arg220=)
HNF4A NM_175914.4 20 Unknown g.43052788G>A - HNF4A_000001 - Sabine Heber ?/+? 8 c.957G>A r.(=) p.(=)
HNF4A NM_175914.4 20 Unknown g.42984446T>C - HNF4A_000002 - Sabine Heber ./? 1D c.2T>C r.? p.(Met1Thr)
KRAS NM_004985.3 12 Unknown g.25380167C>T - KRAS_000001 - Florian Bayersdorfer ./? 3 c.290+1G>A r.spl? p.?
KRAS NM_033360.2 12 Unknown g.25380167C>T - KRAS_000001 - Florian Bayersdorfer ./? 3 c.290+1G>A r.spl? p.?
KRAS NM_004985.3 12 Unknown g.25380167C>T - KRAS_000001 - Florian Bayersdorfer ./? 3 c.290+1G>A r.spl? p.?
KRAS NM_033360.2 12 Unknown g.25380167C>T - KRAS_000001 - Florian Bayersdorfer ./? 3 c.290+1G>A r.spl? p.?
LPIN2 NM_014646.2 18 Unknown g.2940603G>A - LPIN2_000001 - Florian Bayersdorfer ./. 5 c.698C>T r.(?) p.(Thr233Ile)
MET NM_001127500.1 7 Unknown g.116411990C>T - MET_000001 - Florian Bayersdorfer ./. 14 c.3029C>T r.(?) p.(Thr1010Ile)
MLH1 NM_000249.3 3 Unknown g.37035121C>T - MLH1_000001 - Florian Bayersdorfer +/+ 1 c.83C>T r.(?) p.(Pro28Leu)
MLH1 NM_000249.3 3 Unknown g.37038115A>G - MLH1_000002 - Florian Bayersdorfer +/+ 2 c.122A>G r.(?) p.(Asp41Gly)
MLH1 NM_000249.3 3 Unknown g.37042542_37042546delGAGGT - MLH1_000003 - Florian Bayersdorfer ./+ 3 c.304_306+2delGAGGT r.spl? p.?
MLH1 NM_000249.3 3 Unknown g.37042542_37042546del - MLH1_000004 - Florian Bayersdorfer ./+ 3 c.304_306+2del r.spl? p.?
MSH2 NM_000251.2 2 Unknown g.47630397T>C - MSH2_000001 - Florian Bayersdorfer +?/+? 1 c.67T>C r.(?) p.(Phe23Leu)
MSH2 NM_000251.2 2 Unknown g.47630474G>A - MSH2_000002 - Florian Bayersdorfer ?/-? 1 c.144G>A r.(=) p.(=)
MSH2 NM_000251.2 2 Unknown g.47643434G>A - MSH2_000003 - Florian Bayersdorfer +?/+? 6 c.943-1G>A r.spl? p.?
MSH2 NM_000251.2 2 Unknown g.47657016T>A - MSH2_000004 - Florian Bayersdorfer ?/+ 7 c.1212T>A r.(?) p.(Cys404*)
MSH6 NM_000179.2 2 Unknown g.48010431C>T - MSH6_000001 - Florian Bayersdorfer +?/+? 1 c.59C>T r.(?) p.(Ala20Val)
MSH6 NM_000179.2 2 Unknown g.48030647dupC - MSH6_000002 - Florian Bayersdorfer +/+ 5 c.3261dupC r.(?) p.(Phe1088Leufs*5)
MSH6 NM_000179.2 2 Unknown g.48025816C>T - MSH6_000003 - Florian Bayersdorfer +/+ 4 c.694C>T r.(?) p.(Gln232*)
MUTYH NM_001128425.1 1 Unknown g.45798475T>C - MUTYH_000001 - Florian Bayersdorfer +/+ 7 c.536A>G r.(?) p.(Tyr179Cys)
MUTYH NM_001128425.1 1 Unknown g.45797228C>T - MUTYH_000002 - Florian Bayersdorfer +/+ 13 c.1187G>A r.(?) p.(Gly396Asp)
NEUROD1 NM_002500.4 2 Unknown g.182542982G>C - NEUROD1_000001 - Sabine Heber +?/+? 2 c.606C>G r.(?) p.(Asp202Glu)
NF1 NM_000267.3 17 Unknown g.29550449_29550451delTAT - NF1_000001 - Florian Bayersdorfer ./? 16 c.1722-13_1722-11delTAT r.(=) p.(=)
NF1 NM_000267.3 17 Unknown g.29654746T>C - NF1_000002 - Florian Bayersdorfer +?/+? 37 c.5435T>C r.(?) p.(Leu1812Pro)
NF1 NM_000267.3 17 Unknown g.29559808_29559809dupTC - NF1_000003 - Sabine Heber ./+ 26 c.3405_3406dupTC r.(?) p.(Arg1136Leufs*7)
NF1 NM_000267.3 17 Unknown g.29654535_29654553delinsTGCT - NF1_000004 - Florian Bayersdorfer ./+ 37 c.5224_5242delinsTGCT r.(?) p.(Gln1742_Val2818delinsCys)
NF1 NM_000267.3 17 Unknown g.29509520A>C - NF1_000005 - Florian Bayersdorfer ?/? 8 c.731-6A>C r.(=) p.(=)
NF1 NM_000267.3 17 Unknown g.29654736C>T - NF1_000006 - Florian Bayersdorfer +/+ 37 c.5425C>T r.(?) p.(Arg1809Cys)
NF1 NM_000267.3 17 Unknown g.29559808_29559809dupTC - NF1_000003 - Florian Bayersdorfer ?/+ 26 c.3405_3406dupTC r.(?) p.(Arg1136Leufs*7)
NOD2 NM_022162.1 16 Unknown g.50733539G>A - NOD2_000001 - Sabine Heber +?/+? 2 c.214G>A r.(?) p.(Glu72Lys)
PALB2 NM_024675.3 16 Unknown g.23635348A>C - PALB2_000001 - Florian Bayersdorfer ?/? 8 c.2816T>G r.(?) p.(Leu939Trp)
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