All transcript variants in gene A4GNT

Information The variants shown are described using the NM_016161.2 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.60C>T r.(=) p.(=) g.137850039G>A Copied from the Exome Variant Server A4GNT_000053 1/13006 1/8600 0/4406
?/? c.80C>G r.(?) p.(Ser27Cys) g.137850019G>C Copied from the Exome Variant Server A4GNT_000052 84/13006 2/8600 82/4406
?/? c.96T>C r.(=) p.(=) g.137850003A>G Copied from the Exome Variant Server A4GNT_000051 8402/13006 5754/8600 2648/4406
?/? c.191C>T r.(?) p.(Pro64Leu) g.137849908G>A Copied from the Exome Variant Server A4GNT_000050 2/13006 2/8600 0/4406
?/? c.192C>T r.(=) p.(=) g.137849907G>A Copied from the Exome Variant Server A4GNT_000049 1/13006 1/8600 0/4406
?/? c.195T>G r.(?) p.(His65Gln) g.137849904A>C Copied from the Exome Variant Server A4GNT_000048 1/13006 0/8600 1/4406
?/? c.210C>G r.(=) p.(=) g.137849889G>C Copied from the Exome Variant Server A4GNT_000047 2/13006 2/8600 0/4406
?/? c.211G>A r.(?) p.(Val71Ile) g.137849888C>T Copied from the Exome Variant Server A4GNT_000046 272/13006 238/8600 34/4406
?/? c.213A>T r.(=) p.(=) g.137849886T>A Copied from the Exome Variant Server A4GNT_000045 56/13006 2/8600 54/4406
?/? c.238G>A r.(?) p.(Glu80Lys) g.137849861C>T Copied from the Exome Variant Server A4GNT_000044 1/13006 1/8600 0/4406
?/? c.278C>T r.(?) p.(Ser93Phe) g.137849821G>A Copied from the Exome Variant Server A4GNT_000043 1/13006 0/8600 1/4406
?/? c.284C>T r.(?) p.(Pro95Leu) g.137849815G>A Copied from the Exome Variant Server A4GNT_000042 9/13006 9/8600 0/4406
?/? c.291C>A r.(=) p.(=) g.137849808G>T Copied from the Exome Variant Server A4GNT_000041 68/13006 63/8600 5/4406
?/? c.328G>T r.(?) p.(Ala110Ser) g.137849771C>A Copied from the Exome Variant Server A4GNT_000040 1/13006 1/8600 0/4406
?/? c.334G>A r.(?) p.(Asp112Asn) g.137849765C>T Copied from the Exome Variant Server A4GNT_000039 3/13006 0/8600 3/4406
?/? c.340G>A r.(?) p.(Val114Ile) g.137849759C>T Copied from the Exome Variant Server A4GNT_000038 1/13006 1/8600 0/4406
?/? c.368G>C r.(?) p.(Arg123Thr) g.137849731C>G Copied from the Exome Variant Server A4GNT_000037 1/13006 0/8600 1/4406
?/? c.369G>T r.(?) p.(Arg123Ser) g.137849730C>A Copied from the Exome Variant Server A4GNT_000036 1/13006 1/8600 0/4406
?/? c.385C>T r.(?) p.(Pro129Ser) g.137849714G>A Copied from the Exome Variant Server A4GNT_000035 1/13006 0/8600 1/4406
?/? c.396A>G r.(=) p.(=) g.137849703T>C Copied from the Exome Variant Server A4GNT_000034 1/13006 1/8600 0/4406
?/? c.397T>C r.(?) p.(Trp133Arg) g.137849702A>G Copied from the Exome Variant Server A4GNT_000033 8/13006 8/8600 0/4406
?/? c.408+15A>G r.(=) p.(=) g.137849676T>C Copied from the Exome Variant Server A4GNT_000032 3/12996 0/8596 3/4400
?/? c.408+32G>A r.(=) p.(=) g.137849659C>T Copied from the Exome Variant Server A4GNT_000031 3/12990 1/8590 2/4400
?/? c.408+37G>A r.(=) p.(=) g.137849654C>T Copied from the Exome Variant Server A4GNT_000030 1/12978 0/8580 1/4398
?/? c.408+51A>G r.(=) p.(=) g.137849640T>C Copied from the Exome Variant Server A4GNT_000029 2/12926 2/8536 0/4390
?/? c.409-20A>C r.(=) p.(=) g.137843740T>G Copied from the Exome Variant Server A4GNT_000028 1/13006 1/8600 0/4406
?/? c.420C>T r.(=) p.(=) g.137843709G>A Copied from the Exome Variant Server A4GNT_000027 5/13006 5/8600 0/4406
?/? c.449C>T r.(?) p.(Ser150Leu) g.137843680G>A Copied from the Exome Variant Server A4GNT_000026 1/13006 1/8600 0/4406
?/? c.450G>A r.(=) p.(=) g.137843679C>T Copied from the Exome Variant Server A4GNT_000025 2/13006 2/8600 0/4406
?/? c.460C>A r.(?) p.(Arg154Ser) g.137843669G>T Copied from the Exome Variant Server A4GNT_000024 1/13006 0/8600 1/4406
?/? c.484G>A r.(?) p.(Gly162Ser) g.137843645C>T Copied from the Exome Variant Server A4GNT_000023 1/13006 1/8600 0/4406
?/? c.489C>T r.(=) p.(=) g.137843640G>A Copied from the Exome Variant Server A4GNT_000022 2/13006 2/8600 0/4406
?/? c.546G>A r.(=) p.(=) g.137843583C>T Copied from the Exome Variant Server A4GNT_000021 3/13006 0/8600 3/4406
?/? c.552G>A r.(=) p.(=) g.137843577C>T Copied from the Exome Variant Server A4GNT_000020 2/13006 2/8600 0/4406
?/? c.562C>T r.(?) p.(Arg188Trp) g.137843567G>A Copied from the Exome Variant Server A4GNT_000019 2/13006 0/8600 2/4406
?/? c.583T>C r.(?) p.(Phe195Leu) g.137843546A>G Copied from the Exome Variant Server A4GNT_000018 3/13006 3/8600 0/4406
?/? c.592C>T r.(?) p.(Leu198Phe) g.137843537G>A Copied from the Exome Variant Server A4GNT_000017 1/13006 1/8600 0/4406
?/? c.605C>T r.(?) p.(Pro202Leu) g.137843524G>A Copied from the Exome Variant Server A4GNT_000016 2/13006 2/8600 0/4406
?/? c.642C>A r.(?) p.(His214Gln) g.137843487G>T Copied from the Exome Variant Server A4GNT_000015 35/13006 32/8600 3/4406
?/? c.653C>A r.(?) p.(Ala218Asp) g.137843476G>T Copied from the Exome Variant Server A4GNT_000014 8591/13006 5756/8600 2835/4406
?/? c.762C>T r.(=) p.(=) g.137843367G>A Copied from the Exome Variant Server A4GNT_000013 1/13006 0/8600 1/4406
?/? c.766C>T r.(?) p.(His256Tyr) g.137843363G>A Copied from the Exome Variant Server A4GNT_000012 18/13006 0/8600 18/4406
?/? c.796C>T r.(?) p.(Arg266*) g.137843333G>A Copied from the Exome Variant Server A4GNT_000054 26/13006 23/8600 3/4406
?/? c.811T>C r.(?) p.(Tyr271His) g.137843318A>G Copied from the Exome Variant Server A4GNT_000009 1/13006 0/8600 1/4406
?/? c.843C>A r.(?) p.(Phe281Leu) g.137843286G>T Copied from the Exome Variant Server A4GNT_000008 1/13006 0/8600 1/4406
?/? c.846T>C r.(=) p.(=) g.137843283A>G Copied from the Exome Variant Server A4GNT_000006 183/13006 0/8600 183/4406
?/? c.883C>A r.(?) p.(Gln295Lys) g.137843246G>T Copied from the Exome Variant Server A4GNT_000004 119/13006 0/8600 119/4406
?/? c.888G>A r.(=) p.(=) g.137843241C>T Copied from the Exome Variant Server A4GNT_000002 2/13006 1/8600 1/4406
?/? c.895G>A r.(?) p.(Ala299Thr) g.137843234C>T Copied from the Exome Variant Server A4GNT_000001 1/13006 1/8600 0/4406
?/? c.935A>G r.(?) p.(Tyr312Cys) g.137843194T>C Copied from the Exome Variant Server A4GNT_000011 15/13006 0/8600 15/4406
?/? c.957T>G r.(=) p.(=) g.137843172A>C Copied from the Exome Variant Server A4GNT_000010 3/13006 0/8600 3/4406
?/? c.1023A>G r.(=) p.(=) g.137843106T>C Copied from the Exome Variant Server A4GNT_000007 8593/13006 5757/8600 2836/4406
?/? c.*12G>A r.(=) p.(=) g.137843094C>T Copied from the Exome Variant Server A4GNT_000005 815/13006 243/8600 572/4406
?/? c.*28G>C r.(=) p.(=) g.137843078C>G Copied from the Exome Variant Server A4GNT_000003 1/13006 1/8600 0/4406
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