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Variant Information

Gene Interpretation
SF3B1 chr2:198267484 chr2:197402760 c.1873C>T p.R625C Pathogenic
SF3B1 chr2:198267373 chr2:197402649 c.1984C>T p.H662Y Pathogenic
SF3B1 chr2:198267371 chr2:197402647 c.1986C>A p.H662Q Pathogenic
SF3B1 chr2:198267369 chr2:197402645 c.1988C>T p.T663I Pathogenic
SF3B1 chr2:198267361 chr2:197402637 c.1996A>G p.K666E Pathogenic
SF3B1 chr2:198267360 chr2:197402636 c.1997A>C p.K666T Pathogenic
SF3B1 chr2:198267359 chr2:197402635 c.1998G>T p.K666N Pathogenic
SF3B1 chr2:198266834 chr2:197402110 c.2098A>G p.K700E Pathogenic
SF3B1 chr2:198266494 chr2:197401770 c.2342A>G p.D781G Pathogenic