Full data view for gene B3GNT5

Information The variants shown are described using the NM_032047.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-44G>T r.(=) p.(=) g.182987543G>T Copied from the Exome Variant Server MCF2L2_000117 35/13006 0/8600 35/4406 - - - - - - -
?/? c.-40G>A r.(=) p.(=) g.182987547G>A Copied from the Exome Variant Server MCF2L2_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.5G>A r.(?) p.(Arg2Lys) g.182987591G>A Copied from the Exome Variant Server MCF2L2_000121 125/13006 118/8600 7/4406 - - - - - - -
?/? c.7A>G r.(?) p.(Met3Val) g.182987593A>G Copied from the Exome Variant Server MCF2L2_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.13G>C r.(?) p.(Val5Leu) g.182987599G>C Copied from the Exome Variant Server MCF2L2_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.37T>C r.(?) p.(Trp13Arg) g.182987623T>C Copied from the Exome Variant Server MCF2L2_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.78G>A r.(=) p.(=) g.182987664G>A Copied from the Exome Variant Server MCF2L2_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.106G>A r.(?) p.(Asp36Asn) g.182987692G>A Copied from the Exome Variant Server MCF2L2_000120 1/13006 0/8600 1/4406 - - - - - - -
?/? c.215G>A r.(?) p.(Arg72His) g.182987801G>A Copied from the Exome Variant Server MCF2L2_000122 28/13006 0/8600 28/4406 - - - - - - -
?/? c.266T>A r.(?) p.(Leu89His) g.182987852T>A Copied from the Exome Variant Server MCF2L2_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.367G>A r.(?) p.(Ala123Thr) g.182987953G>A Copied from the Exome Variant Server MCF2L2_000124 1/13006 0/8600 1/4406 - - - - - - -
?/? c.500A>G r.(?) p.(Asn167Ser) g.182988086A>G Copied from the Exome Variant Server MCF2L2_000125 2/13006 2/8600 0/4406 - - - - - - -
?/? c.521T>C r.(?) p.(Met174Thr) g.182988107T>C Copied from the Exome Variant Server MCF2L2_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.531T>C r.(=) p.(=) g.182988117T>C Copied from the Exome Variant Server MCF2L2_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.536C>T r.(?) p.(Ala179Val) g.182988122C>T Copied from the Exome Variant Server MCF2L2_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.546T>C r.(=) p.(=) g.182988132T>C Copied from the Exome Variant Server MCF2L2_000129 2/13006 0/8600 2/4406 - - - - - - -
?/? c.560A>G r.(?) p.(Lys187Arg) g.182988146A>G Copied from the Exome Variant Server MCF2L2_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582T>C r.(=) p.(=) g.182988168T>C Copied from the Exome Variant Server MCF2L2_000131 1/13006 1/8600 0/4406 - - - - - - -
?/? c.613G>A r.(?) p.(Glu205Lys) g.182988199G>A Copied from the Exome Variant Server MCF2L2_000132 1/13006 1/8600 0/4406 - - - - - - -
?/? c.774T>C r.(=) p.(=) g.182988360T>C Copied from the Exome Variant Server MCF2L2_000133 2/13006 1/8600 1/4406 - - - - - - -
?/? c.783C>T r.(=) p.(=) g.182988369C>T Copied from the Exome Variant Server MCF2L2_000134 1/13006 0/8600 1/4406 - - - - - - -
?/? c.820A>G r.(?) p.(Thr274Ala) g.182988406A>G Copied from the Exome Variant Server MCF2L2_000135 11/13006 0/8600 11/4406 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.182988432C>T Copied from the Exome Variant Server MCF2L2_000136 3/13006 3/8600 0/4406 - - - - - - -
?/? c.853T>C r.(?) p.(Phe285Leu) g.182988439T>C Copied from the Exome Variant Server MCF2L2_000137 1/13006 1/8600 0/4406 - - - - - - -
?/? c.883A>G r.(?) p.(Ile295Val) g.182988469A>G Copied from the Exome Variant Server MCF2L2_000138 6/13006 0/8600 6/4406 - - - - - - -
?/? c.890C>T r.(?) p.(Pro297Leu) g.182988476C>T Copied from the Exome Variant Server MCF2L2_000139 2/13006 2/8600 0/4406 - - - - - - -
?/? c.903G>A r.(=) p.(=) g.182988489G>A Copied from the Exome Variant Server MCF2L2_000140 1/13006 0/8600 1/4406 - - - - - - -
?/? c.904del r.(?) p.(Ser304Leufs*16) g.182988490del Copied from the Exome Variant Server MCF2L2_000141 15/12520 10/8254 5/4266 - - - - - - -
?/? c.1027A>G r.(?) p.(Thr343Ala) g.182988613A>G Copied from the Exome Variant Server MCF2L2_000142 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1062C>T r.(=) p.(=) g.182988648C>T Copied from the Exome Variant Server MCF2L2_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1127C>T r.(?) p.(Ala376Val) g.182988713C>T Copied from the Exome Variant Server MCF2L2_000144 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1128G>A r.(=) p.(=) g.182988714G>A Copied from the Exome Variant Server MCF2L2_000145 2/12998 1/8596 1/4402 - - - - - - -
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