View all variants affecting transcripts

63 entries on 1 page. Showing entries 1 - 63.
Legend  

AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AIP NM_003977.2 11 Unknown g.67250676G>A - AIP_000001 - Florian Bayersdorfer ?/? 1 c.47G>A r.(?) p.(Arg16His)
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)
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)
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)
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)
CFTR NM_000492.3 7 Unknown g.117306941_117306944delCACT - CFTR_000001 - Florian Bayersdorfer ?/. 27 c.4243-21_4243-18delCACT r.(=) p.(=)
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.29092888_29099492del - CHEK2_000005 - Florian Bayersdorfer ./+ 9 c.908+1_1095+1del r.spl? p.?
CHEK2 NM_007194.3 22 Unknown g.29090015C>T - CHEK2_000006 - Florian Bayersdorfer ./. 13 c.1461+5G>A r.spl? p.?
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*)
FANCM NM_020937.2 14 Unknown g.45658326C>T - FANCM_000001 - Florian Bayersdorfer +?/+? 20 c.5101C>T r.(?) p.(Gln1701*)
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)
HNF1B NM_000458.2 17 Unknown g.36093699A>G - HNF1B_000001 - Sabine Heber +?/+? 3 c.660T>C r.(=) p.(=)
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)
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.?
MSH6 NM_000179.2 2 Unknown g.48010431C>T - MSH6_000001 - Florian Bayersdorfer +?/+? 1 c.59C>T r.(?) p.(Ala20Val)
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)
PALB2 NM_024675.3 16 Unknown g.23635348A>C - PALB2_000001 - Florian Bayersdorfer ?/? 8 c.2816T>G r.(?) p.(Leu939Trp)
PALB2 NM_024675.3 16 Unknown g.23641537_23641538dupTC - PALB2_000002 - Florian Bayersdorfer ./+ 5 c.1937_1938dupGA r.(?) p.(His647Aspfs*14)
PTCH1 NM_001083602.1 9 Unknown g.98211499T>A - PTCH1_000001 - Florian Bayersdorfer ./. 22 c.3458A>T r.(?) p.(Asp1153Val)
RAD51C NM_058216.2 17 Unknown g.56809910_56809912delGTA - RAD51C_000001 - Florian Bayersdorfer +?/+? 8 c.1026+5_1026+7delGTA r.spl? p.?
RAD51C NM_058216.2 17 Unknown g.56798128A>G - RAD51C_000002 - Florian Bayersdorfer ?/? 6 c.859A>G r.(?) p.(Thr287Ala)
RAD51C NM_058216.2 17 Unknown g.56770003C>G - RAD51C_000003 - Florian Bayersdorfer ./. 1 c.-2C>G r.(=) p.(=)
RAD51D NM_002878.3 17 Unknown g.33430313T>C - RAD51D_000001 - Florian Bayersdorfer ?/? 8 c.698A>G r.(?) p.(Glu233Gly)
SDHB NM_003000.2 1 Unknown g.17355075A>T - SDHB_000001 - Florian Bayersdorfer +?/+? 4 c.423+20T>A r.(=) p.(=)
TP53 NM_000546.5 17 Unknown g.7579579C>T - TP53_000001 - Florian Bayersdorfer ?/? 4 c.108G>A r.(=) p.(=)
TP53 NM_000546.5 17 Unknown g.7578210T>C - TP53_000002 - Florian Bayersdorfer -?/-? 6 c.639A>G r.(=) p.(=)
TP53 NM_000546.5 17 Unknown g.7578210T>C - TP53_000002 - Florian Bayersdorfer -?/-? 6 c.639A>G r.(=) p.(=)
TP53 NM_000546.5 17 Unknown g.7577085C>A - TP53_000003 - Florian Bayersdorfer ?/+ 8 c.853G>T r.(?) p.(Glu285*)
Legend