Gene Mutations
 
Records Return:  (62) Show
 
1234
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
ATM60758520890011q22.31141ins4 ATAXIA-TELANGIECTASIA4
ATM60758520890011q22.31179delGG ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.32250G>A ATAXIA-TELANGIECTASIA2
ATM60758520890011q22.32251del19 ATAXIA-TELANGIECTASIA2
ATM60758520890011q22.32284delCT ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.32467del372 ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.32T>C;no initiation ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.33049C>T ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.33078del207 ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.33198delA ATAXIA TELANGIECTASIA1
ATM60758520890011q22.33245ATC>TGAT0016ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.33403del174 ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.33802delG ATAXIA-TELANGIECTASIA2
ATM60758520890011q22.33993G>C ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.34642del4 ATAXIA-TELANGIECTASIA2
ATM60758520890011q22.34742insA ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.35320del7 ATAXIA-TELANGIECTASIA1
ATM60758520890011q22.35653delA ATAXIA-TELANGIECTASIA4
ATM60758520890011q22.35675del88 ATAXIA-TELANGIECTASIA2
ATM60758520890011q22.35712 insA ATAXIA-TELANGIECTASIA3