Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | 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 |