Homozygous and compound heterozygous VHL mutations in individuals with erythrocytosis/polycythemia reported in the literature
| VHL genotype . | Ethnicity . | Notes . | |
|---|---|---|---|
| Compound heterozygous VHL genotype | |||
| 235 C→T/586 C→G | R79C/L188V | Caucasian9 | |
| 376 G→A/548 C→T | D126N/S183L | British10 | |
| 598 C→T/574 C→T | R200W/P192A | American (white)11 | |
| 598 C→T/562 C→G | R200W/L188V | American (white)11 | |
| 598 C→T/388 G→C | R200W/V130L | American (white)8 | |
| Homozygous VHL genotype | |||
| 598 C→T/598 C→T | R200W/R200W | Chuvash,5 Italian,12 Danish,11 German,13 Turkish,13 American (white)11 | Frequent thrombotic complications |
| 571 C→G/571 C→G | H191D/H191D | Croatian11,27 | |
| 413 C→T/413 C→T | P138L/P138L | Punjabi | |
| VHL genotype . | Ethnicity . | Notes . | |
|---|---|---|---|
| Compound heterozygous VHL genotype | |||
| 235 C→T/586 C→G | R79C/L188V | Caucasian9 | |
| 376 G→A/548 C→T | D126N/S183L | British10 | |
| 598 C→T/574 C→T | R200W/P192A | American (white)11 | |
| 598 C→T/562 C→G | R200W/L188V | American (white)11 | |
| 598 C→T/388 G→C | R200W/V130L | American (white)8 | |
| Homozygous VHL genotype | |||
| 598 C→T/598 C→T | R200W/R200W | Chuvash,5 Italian,12 Danish,11 German,13 Turkish,13 American (white)11 | Frequent thrombotic complications |
| 571 C→G/571 C→G | H191D/H191D | Croatian11,27 | |
| 413 C→T/413 C→T | P138L/P138L | Punjabi | |