MutSpliceDB: a database of Splice Sites Variants

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NIH, National Cancer Institute, Division of Cancer Treatment and Diagnosis (DCTD)

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MutSpliceDB: a database of Splice Sites Variants

Gene	POMT1
Mutation	NM_001077365.2:c.1082+2T>C
Allele registry ID	CA375308966
Effect	Intron inclusion between exons 11 & 12

RNA-seq evidence:

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Sample	RNA-seq BAM file (DNA BAM)	Source	Splicing effect image snapshot	Genome version	Mini BAM file	Open in IGV
TCGA-VQ-A8PP-01A	e86d5656-a703-4d14-9042-d2f9d3925c07.rna_seq.genomic.gdc_realn.bam	GDC/TCGA	TCGA-VQ-A8PP-01A_POMT1_CA375308966.jpeg	hg38

Showing 1 to 1 of 1 entries