Gene Mutations
 
Records Return:  (61) Show
 
1234
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
CFTR6024212197007q31.21-BP DEL, 3659C0020CYSTIC FIBROSIS1
CFTR6024212197007q31.21-BP DEL, 556A DEL, FS0042CYSTIC FIBROSIS2
CFTR6024212197007q31.21-BP DEL, T10780059CYSTIC FIBROSIS1
CFTR6024212197007q31.21154insTC CYSTIC FIBROSIS1
CFTR6024212197007q31.2129G>C CYSTIC FIBROSIS1
CFTR6024212197007q31.21898+1 G>A CYSTIC FIBROSIS5
CFTR6024212197007q31.221-KB DEL0123CYSTIC FIBROSIS1
CFTR6024212197007q31.22143delT CYSTIC FIBROSIS1
CFTR6024212197007q31.22183AA>G CYSTIC FIBROSIS1
CFTR6024212197007q31.22184delA CYSTIC FIBROSIS2
CFTR6024212197007q31.23272-26A>G CYSTIC FIBROSIS1
CFTR6024212197007q31.23876delA CYSTIC FIBROSIS2
CFTR6024212197007q31.23905insT CYSTIC FIBROSIS2
CFTR6024212197007q31.2394delTT0128CYSTIC FIBROSIS2
CFTR6024212197007q31.2444delA CYSTIC FIBROSIS2
CFTR6024212197007q31.2621+1G>T CYSTIC FIBROSIS6
CFTR6024212197007q31.2711+1G>T CYSTIC FIBROSIS1
CFTR6024212197007q31.2ALA455GLU0007CYSTIC FIBROSIS2
CFTR6024212197007q31.2ARG1162LEU NORMAL1
CFTR6024212197007q31.2ARG1162TER (c.3484C>T)0033CYSTIC FIBROSIS2