Full data view for gene OMG

Information The variants shown are described using the NM_002544.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-6-38T>C r.(=) p.(=) g.29623393A>G Copied from the Exome Variant Server NF1_000252 1/12972 0/8586 1/4386 - - - - - - -
?/? c.-6-34A>G r.(=) p.(=) g.29623389T>C Copied from the Exome Variant Server NF1_000250 1/12978 1/8590 0/4388 - - - - - - -
?/? c.-2T>C r.(=) p.(=) g.29623351A>G Copied from the Exome Variant Server NF1_000248 1/13006 1/8600 0/4406 - - - - - - -
?/? c.62G>A r.(?) p.(Gly21Asp) g.29623288C>T Copied from the Exome Variant Server NF1_000246 1145/13006 1032/8600 113/4406 - - - - - - -
?/? c.225C>T r.(=) p.(=) g.29623125G>A Copied from the Exome Variant Server NF1_000257 1/13006 1/8600 0/4406 - - - - - - -
?/? c.363T>C r.(=) p.(=) g.29622987A>G Copied from the Exome Variant Server NF1_000255 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379T>C r.(?) p.(Tyr127His) g.29622971A>G Copied from the Exome Variant Server NF1_000253 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444C>T r.(=) p.(=) g.29622906G>A Copied from the Exome Variant Server NF1_000251 1/13006 0/8600 1/4406 - - - - - - -
?/? c.445G>A r.(?) p.(Glu149Lys) g.29622905C>T Copied from the Exome Variant Server NF1_000249 1/13006 0/8600 1/4406 - - - - - - -
?/? c.513C>T r.(=) p.(=) g.29622837G>A Copied from the Exome Variant Server NF1_000247 1/13006 1/8600 0/4406 - - - - - - -
?/? c.519C>T r.(=) p.(=) g.29622831G>A Copied from the Exome Variant Server NF1_000245 2/13006 2/8600 0/4406 - - - - - - -
?/? c.655G>A r.(?) p.(Glu219Lys) g.29622695C>T Copied from the Exome Variant Server NF1_000244 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657G>A r.(=) p.(=) g.29622693C>T Copied from the Exome Variant Server NF1_000243 1/13006 0/8600 1/4406 - - - - - - -
?/? c.709T>C r.(?) p.(Tyr237His) g.29622641A>G Copied from the Exome Variant Server NF1_000242 2/13006 0/8600 2/4406 - - - - - - -
?/? c.743A>G r.(?) p.(His248Arg) g.29622607T>C Copied from the Exome Variant Server NF1_000241 1/13006 1/8600 0/4406 - - - - - - -
?/? c.799T>C r.(?) p.(Tyr267His) g.29622551A>G Copied from the Exome Variant Server NF1_000240 1/13006 1/8600 0/4406 - - - - - - -
?/? c.808C>T r.(?) p.(Pro270Ser) g.29622542G>A Copied from the Exome Variant Server NF1_000239 1/13006 1/8600 0/4406 - - - - - - -
?/? c.852G>C r.(?) p.(Gln284His) g.29622498C>G Copied from the Exome Variant Server NF1_000238 1/13006 0/8600 1/4406 - - - - - - -
?/? c.853A>G r.(?) p.(Thr285Ala) g.29622497T>C Copied from the Exome Variant Server NF1_000237 1/13006 1/8600 0/4406 - - - - - - -
?/? c.923G>A r.(?) p.(Arg308Gln) g.29622427C>T Copied from the Exome Variant Server NF1_000236 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1037A>G r.(?) p.(His346Arg) g.29622313T>C Copied from the Exome Variant Server NF1_000235 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1110A>C r.(=) p.(=) g.29622240T>G Copied from the Exome Variant Server NF1_000234 48/13006 0/8600 48/4406 - - - - - - -
?/? c.1222A>G r.(?) p.(Thr408Ala) g.29622128T>C Copied from the Exome Variant Server NF1_000233 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1232T>A r.(?) p.(Val411Glu) g.29622118A>T Copied from the Exome Variant Server NF1_000232 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1291T>C r.(=) p.(=) g.29622059A>G Copied from the Exome Variant Server NF1_000231 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1304T>C r.(?) p.(Val435Ala) g.29622046A>G Copied from the Exome Variant Server NF1_000230 128/13006 0/8600 128/4406 - - - - - - -
?/? c.1314G>A r.(=) p.(=) g.29622036C>T Copied from the Exome Variant Server NF1_000229 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*36T>G r.(=) p.(=) g.29621991A>C Copied from the Exome Variant Server NF1_000228 1/13004 1/8598 0/4406 - - - - - - -
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