Id,GeneSymbol,GeneFullName,EnsemblSemiReference,Phenotype,OmimReference,Mutation,Location,AuthenticAberrantDistance,ReadingFrameChange,NucleotideSequence,InTerminalExon,Comment,MutationCoordinates,AberrantSpliceSiteCoordinates,MaximumEntropyModelAuthentic,MaximumEntropyModelCryptic,FirstOrderMarkovModelAuthentic,FirstOrderMarkovModelCryptic,WeightMatrixModelAuthentic,WeightMatrixModelCryptic,PubMedReference,ReferenceText
1,GNAS1,GNAS complex locus,ENSG00000087460,Hereditary osteodystrophy,103580,IVS7-1G>A,Exon,+1,+1,AAGCAGGCTGACTATGTGCCGAGCGATCAGgtgtgcaaaacccctccccaccagaggactctgagccctctttccaaactactccagacctttgctttagattggcaattattactgtttcggttggctttggtgagatccattgacctcaattttgtttca(g>a)G/ACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAgtaagccaactgt,False,,chr20:58909349,chr20:58909350/58909351,10.35,4.02,9.95,4.55,8.06,4.73,12624854,"Rickard & Wilson. (2003) Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am. J. Hum. Genet., 72, 961-974."
2,LDLR,low density lipoprotein receptor,ENSG00000130164,Familial hypercholesterolemia,"143890, 144010",IVS9-30GTGCTGATGdelinsCGGCT,Exon,+54,0,TGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGgtgagcgtcgcccctgcctgcagccttggcccgcaggtgaGatgagggctcctg(gcgctgatg>cggct)cccttctctcctcctgcctcagCACCCAGCTTGACAGAGCCCACGGCGTCTCTTCCTATGACACCGTCATCAGCAG/AGACATCCAGGCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTTGCGGATACCAAG/GGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGGGCCATCGTGGTGGATCCTGTTCATGGgtgcgtatccacgacgctgagg,False,,chr19:11113504,"chr19:11113588/11113589, chr19:11113688/11113689",6.76,2.79,9.02,0.95,11.67,1.22,8872473,"Webb et al. (1996) Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Hum. Mol. Genet., 5, 1325-1331."
3,LDLR,low density lipoprotein receptor,ENSG00000130164,Familial hypercholesterolemia,"143890, 144010",IVS1-1G>C,Exon,+10,+1,tgttcctgatcggatgacatttctggttaattctttagttggcaggaaatagacacaggaaacgtggtcagtttctgattctggcgttgagagaccctttctccttttcctctctctca(g>c)TGGGCGACAG/ATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTgtgagtcccctt,False,,chr19:11100222,chr19:11100232/11100233,9.99,5.28,9.98,4.24,14.12,4.06,10200052,"Maruyama et al. (1998) A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: an unexpected absence of exon skipping. Mutations in brief no. 139. Online. Hum. Mutat., 11, 480-481."
4,LDLR,low density lipoprotein receptor,ENSG00000130164,Familial hypercholesterolemia,"143890, 144010",IVS7-1G>C,Exon,+17,+2,ctccgtctctagccattggggaagagcctccccaccaagcctctttctctctcttcca(g>c)ATATCGATGAGTGTCAG/GATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGgtgagcacgggaa,False,,chr19:11111513,chr19:11111530/11111531,13.90,-3.91,13.40,-5.28,16.53,-1.77,10487495,"Yu et al. (1999) Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]. Atherosclerosis, 146, 125-131."
5,COL1A2,"collagen, type I, alpha 2",ENSG00000164692,Ehlers-Danlos syndrome,"120160, 120150",IVS5-1G>C,Exon,+15,0,ttgccctcttttaaataacaacagaaaaatatttacaagtagaatgagaaaatgaactacatgactagtaactaaaaatattttatatatatatataattttttttttttacttctcta(g>c)AACTTTGCTGCTCAG/TATGATGGAAAAGGAGTTGGACTTGGCCCTGGACCAATGgtatgcttatctgt,False,,chr7:94401566,chr7:94401581/94401582,10.62,2.87,11.17,3.61,14.81,4.66,1556139,"Chiodo et al. (1992) A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J. Biol. Chem., 267, 6361-6369."
6,COL5A1,"collagen, type V, alpha 1",ENSG00000130635,Ehlers-Danlos syndrome,"120160, 120150",IVS4-2A>G,Exon,+12,0,cctagcttgagtgtcttttgtgagtggcagcttctagggagaatgtttggctctgaggacaagctcgtcttgtggcttggtctggactttcccctgcttcaaggcatggggctgtgtctcccaggtccccatgcgagtgctctgtgagctgctttttcatgagcgtctcttcttttcc(a>g)gGGTGACATCCAG/CAG/CTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATATgtgagttaactctggc,False,,chr9:134727264,"chr9:134727277/134727278, chr9:134727280/134727281",9.58,1.45,9.51,0.45,12.17,1.95,12145749,"Takahara et al. (2002) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am. J. Hum. Genet., 71, 451-465."
