All transcript variants in gene B3GNT2

Information The variants shown are described using the NM_006577.5 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-9-405T>C r.(=) p.(=) g.62448942T>C Copied from the Exome Variant Server B3GNT2_000001 2/5734 0/3982 2/1752
?/? c.-9-321A>G r.(=) p.(=) g.62449026A>G Copied from the Exome Variant Server B3GNT2_000002 1/5734 1/3982 0/1752
?/? c.-9-22A>G r.(=) p.(=) g.62449325A>G Copied from the Exome Variant Server B3GNT2_000003 1/13006 1/8600 0/4406
?/? c.12A>T r.(=) p.(=) g.62449367A>T Copied from the Exome Variant Server B3GNT2_000004 1/13006 0/8600 1/4406
?/? c.17G>A r.(?) p.(Arg6Gln) g.62449372G>A Copied from the Exome Variant Server B3GNT2_000005 1/13006 0/8600 1/4406
?/? c.22A>G r.(?) p.(Ile8Val) g.62449377A>G Copied from the Exome Variant Server B3GNT2_000006 1/13006 0/8600 1/4406
?/? c.59T>A r.(?) p.(Phe20Tyr) g.62449414T>A Copied from the Exome Variant Server B3GNT2_000007 1/13006 1/8600 0/4406
?/? c.73A>G r.(?) p.(Met25Val) g.62449428A>G Copied from the Exome Variant Server B3GNT2_000008 32/13006 1/8600 31/4406
?/? c.136G>A r.(?) p.(Glu46Lys) g.62449491G>A Copied from the Exome Variant Server B3GNT2_000009 3/13006 3/8600 0/4406
?/? c.161C>G r.(?) p.(Pro54Arg) g.62449516C>G Copied from the Exome Variant Server B3GNT2_000010 4/13006 0/8600 4/4406
?/? c.165C>T r.(=) p.(=) g.62449520C>T Copied from the Exome Variant Server B3GNT2_000011 2/13006 2/8600 0/4406
?/? c.181C>T r.(?) p.(Arg61*) g.62449536C>T Copied from the Exome Variant Server B3GNT2_000012 1/13006 0/8600 1/4406
?/? c.206A>T r.(?) p.(Gln69Leu) g.62449561A>T Copied from the Exome Variant Server B3GNT2_000013 1/13006 0/8600 1/4406
?/? c.226A>G r.(?) p.(Met76Val) g.62449581A>G Copied from the Exome Variant Server B3GNT2_000014 4/13006 1/8600 3/4406
?/? c.251C>T r.(?) p.(Ala84Val) g.62449606C>T Copied from the Exome Variant Server B3GNT2_000015 1/13006 1/8600 0/4406
?/? c.288C>T r.(=) p.(=) g.62449643C>T Copied from the Exome Variant Server B3GNT2_000016 1/13006 0/8600 1/4406
?/? c.309G>A r.(=) p.(=) g.62449664G>A Copied from the Exome Variant Server B3GNT2_000017 63/13006 0/8600 63/4406
?/? c.319A>G r.(?) p.(Thr107Ala) g.62449674A>G Copied from the Exome Variant Server B3GNT2_000018 1/13006 1/8600 0/4406
?/? c.357T>C r.(=) p.(=) g.62449712T>C Copied from the Exome Variant Server B3GNT2_000019 1/13006 0/8600 1/4406
?/? c.403C>T r.(?) p.(Pro135Ser) g.62449758C>T Copied from the Exome Variant Server B3GNT2_000020 1/13006 1/8600 0/4406
?/? c.408T>G r.(?) p.(Asp136Glu) g.62449763T>G Copied from the Exome Variant Server B3GNT2_000021 166/13006 0/8600 166/4406
?/? c.496G>A r.(?) p.(Gly166Ser) g.62449851G>A Copied from the Exome Variant Server B3GNT2_000022 1/13006 0/8600 1/4406
?/? c.510C>T r.(=) p.(=) g.62449865C>T Copied from the Exome Variant Server B3GNT2_000023 64/13006 62/8600 2/4406
?/? c.524C>T r.(?) p.(Thr175Met) g.62449879C>T Copied from the Exome Variant Server B3GNT2_000024 1/13006 1/8600 0/4406
?/? c.561A>G r.(=) p.(=) g.62449916A>G Copied from the Exome Variant Server B3GNT2_000025 66/13006 62/8600 4/4406
?/? c.576C>T r.(=) p.(=) g.62449931C>T Copied from the Exome Variant Server B3GNT2_000026 1/13006 0/8600 1/4406
?/? c.577G>A r.(?) p.(Asp193Asn) g.62449932G>A Copied from the Exome Variant Server B3GNT2_000027 1/13006 1/8600 0/4406
?/? c.618A>G r.(=) p.(=) g.62449973A>G Copied from the Exome Variant Server B3GNT2_000028 1/13006 0/8600 1/4406
?/? c.701C>A r.(?) p.(Ser234Tyr) g.62450056C>A Copied from the Exome Variant Server B3GNT2_000029 1/13006 0/8600 1/4406
?/? c.706C>T r.(?) p.(Pro236Ser) g.62450061C>T Copied from the Exome Variant Server B3GNT2_000030 1/13006 0/8600 1/4406
?/? c.918_919insG r.(?) p.(Phe309Valfs*16) g.62450273_62450274insG Copied from the Exome Variant Server B3GNT2_000031 2/12520 1/8254 1/4266
?/? c.930C>T r.(=) p.(=) g.62450285C>T Copied from the Exome Variant Server B3GNT2_000032 10/13006 0/8600 10/4406
?/? c.946G>T r.(?) p.(Ala316Ser) g.62450301G>T Copied from the Exome Variant Server B3GNT2_000033 1/13006 0/8600 1/4406
?/? c.954G>A r.(=) p.(=) g.62450309G>A Copied from the Exome Variant Server B3GNT2_000034 1/13006 0/8600 1/4406
?/? c.1036G>A r.(?) p.(Val346Ile) g.62450391G>A Copied from the Exome Variant Server B3GNT2_000035 3/13006 0/8600 3/4406
?/? c.1096A>T r.(?) p.(Ile366Phe) g.62450451A>T Copied from the Exome Variant Server B3GNT2_000036 1/13006 1/8600 0/4406
?/? c.1107T>C r.(=) p.(=) g.62450462T>C Copied from the Exome Variant Server B3GNT2_000037 4/13006 3/8600 1/4406
?/? c.1122del r.(?) p.(Val375Tyrfs*9) g.62450477del Copied from the Exome Variant Server B3GNT2_000038 1/12518 1/8254 0/4264
?/? c.1194A>G r.(=) p.(=) g.62450549A>G Copied from the Exome Variant Server B3GNT2_000039 54/12990 1/8598 53/4392
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