NM_030773.3(TUBB1):c.952C>T (p.Arg318Trp) | 81027 | TUBB1 | Pathogenic | 121918555 | RCV000000453; | N | MedGen:C2751259,OMIM:613112 | 20 | 57599434 | 57599434 | NM_030773.3:c.952C>T | NP_110400.1:p.Arg318Trp | NC_000020.10:g.57599434C>T | OMIM Allelic Variant:612901.0001 | C2751259 613112 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED | | |