NM_175053.3(KRT74):c.444C>G (p.Asn148Lys) | 121391 | KRT74 | Pathogenic | 267607205 | RCV000002564; RCV000057503; | N | MedGen:C1860238,OMIM:194300; MedGen:CN221809 | 12 | 52967118 | 52967118 | NM_175053.3:c.444C>G | NP_778223.2:p.Asn148Lys | NC_000012.11:g.52967118G>C | OMIM Allelic Variant:608248.0001 | CN221809 not provided; C1860238 194300 Woolly hair, autosomal dominant | | |