Table 1.
Intronic MYH9 Variants Identified in the Proband
| Variant | Intron | ClinVar | SNP | Proband |
|---|---|---|---|---|
| NM_002473.4:c.333+59_333+62delinsAGC | 2 | N/A | rs372137829 | Heterozygous |
| NM_002473.6(MYH9):c.1012+56C>T | 9 | 1289525 | rs3752463 | Heterozygous |
| NM_002473.6(MYH9):c.1012+63G>A | 9 | N/A | N/A | Heterozygous |
| NM_002473.6(MYH9):c.1554+7A>G | 13 | 44550 | rs3752462 | Heterozygous |
| NM_002473.6(MYH9):c.1555-71T>C | 13 | 1243503 | rs2157257 | Homozygous |
| NM_002473.6(MYH9):c.1728+10G>A | 14 | 44551 | rs2413396 | Homozygous |
| NM_002473.6(MYH9):3837+25C>T | 28 | 258745 | rs4821478 | Heterozygous |
| NM_002473.6(MYH9):c.5061+57C>T | 35 | 1236568 | rs13053731 | Heterozygous |
Abbreviation: N/A, not applicable.