Analysis of exome sequencing for this mutation showed a c.2T>C single nucleotide substitution at position GRCm39:chr1:g.180732030T>C, changing the start codon to a threonine codon (p.Met1Thr). (J:308336)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count