Unique variants in gene GALNT6

Information The variants shown are described using the NM_007210.3 transcript reference sequence.

131 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-29G>A r.(=) p.(=) g.51773594C>T Copied from the Exome Variant Server GALNT6_000125 1/13000 0/8594 1/4406
1 c.-18G>T r.(=) p.(=) g.51773583C>A Copied from the Exome Variant Server GALNT6_000123 1/13000 0/8594 1/4406
1 c.-10G>A r.(=) p.(=) g.51773575C>T Copied from the Exome Variant Server GALNT6_000121 25/13000 0/8596 25/4404
1 c.9C>T r.(=) p.(=) g.51773557G>A Copied from the Exome Variant Server GALNT6_000119 705/13006 573/8600 132/4406
1 c.19C>T r.(?) p.(Arg7Cys) g.51773547G>A Copied from the Exome Variant Server GALNT6_000131 3/13006 2/8600 1/4406
1 c.21C>T r.(=) p.(=) g.51773545G>A Copied from the Exome Variant Server GALNT6_000130 1/13006 1/8600 0/4406
1 c.42C>G r.(=) p.(=) g.51773524G>C Copied from the Exome Variant Server GALNT6_000129 1/13006 0/8600 1/4406
1 c.56C>A r.(?) p.(Ala19Asp) g.51773510G>T Copied from the Exome Variant Server GALNT6_000128 1/13006 1/8600 0/4406
1 c.65T>C r.(?) p.(Leu22Pro) g.51773501A>G Copied from the Exome Variant Server GALNT6_000127 1/13006 1/8600 0/4406
1 c.84T>C r.(=) p.(=) g.51773482A>G Copied from the Exome Variant Server GALNT6_000126 16/13006 0/8600 16/4406
1 c.95G>A r.(?) p.(Ser32Asn) g.51773471C>T Copied from the Exome Variant Server GALNT6_000124 26/13006 23/8600 3/4406
1 c.99C>T r.(=) p.(=) g.51773467G>A Copied from the Exome Variant Server GALNT6_000122 1/13006 0/8600 1/4406
1 c.103G>A r.(?) p.(Glu35Lys) g.51773463C>T Copied from the Exome Variant Server GALNT6_000120 2/13006 2/8600 0/4406
1 c.111C>T r.(=) p.(=) g.51773455G>A Copied from the Exome Variant Server GALNT6_000118 28/13006 7/8600 21/4406
1 c.137T>C r.(?) p.(Leu46Pro) g.51773429A>G Copied from the Exome Variant Server GALNT6_000117 1/13006 0/8600 1/4406
1 c.157G>A r.(?) p.(Val53Ile) g.51773409C>T Copied from the Exome Variant Server GALNT6_000116 4/13006 0/8600 4/4406
1 c.196G>A r.(?) p.(Asp66Asn) g.51773370C>T Copied from the Exome Variant Server GALNT6_000115 1/13006 0/8600 1/4406
1 c.202A>G r.(?) p.(Met68Val) g.51773364T>C Copied from the Exome Variant Server GALNT6_000114 1/13006 1/8600 0/4406
1 c.223G>A r.(?) p.(Ala75Thr) g.51773343C>T Copied from the Exome Variant Server GALNT6_000113 13/13006 0/8600 13/4406
1 c.239A>G r.(?) p.(Gln80Arg) g.51773327T>C Copied from the Exome Variant Server GALNT6_000112 1/13006 0/8600 1/4406
1 c.284C>G r.(?) p.(Thr95Ser) g.51773282G>C Copied from the Exome Variant Server GALNT6_000111 1/13006 0/8600 1/4406
1 c.313C>T r.(?) p.(Arg105Trp) g.51773253G>A Copied from the Exome Variant Server GALNT6_000110 4/13006 4/8600 0/4406
1 c.314G>A r.(?) p.(Arg105Gln) g.51773252C>T Copied from the Exome Variant Server GALNT6_000109 1/13006 1/8600 0/4406
1 c.343G>A r.(?) p.(Ala115Thr) g.51773223C>T Copied from the Exome Variant Server GALNT6_000108 1/13006 0/8600 1/4406
1 c.344C>A r.(?) p.(Ala115Glu) g.51773222G>T Copied from the Exome Variant Server GALNT6_000107 31/13006 0/8600 31/4406
1 c.414G>C r.(?) p.(Lys138Asn) g.51773152C>G Copied from the Exome Variant Server GALNT6_000106 265/13006 2/8600 263/4406
1 c.441C>T r.(=) p.(=) g.51773125G>A Copied from the Exome Variant Server GALNT6_000105 1/13006 1/8600 0/4406
1 c.446G>A r.(?) p.(Arg149Gln) g.51773120C>T Copied from the Exome Variant Server GALNT6_000104 1/13006 0/8600 1/4406
1 c.465C>T r.(=) p.(=) g.51773101G>A Copied from the Exome Variant Server GALNT6_000103 1/13006 1/8600 0/4406
1 c.487C>A r.(?) p.(Pro163Thr) g.51773079G>T Copied from the Exome Variant Server GALNT6_000102 1/13006 1/8600 0/4406
1 c.491+36G>A r.(=) p.(=) g.51773039C>T Copied from the Exome Variant Server GALNT6_000101 1/13006 0/8600 1/4406
1 c.492-35C>G r.(=) p.(=) g.51771186G>C Copied from the Exome Variant Server GALNT6_000100 1/13004 1/8598 0/4406
1 c.492-18G>A r.(=) p.(=) g.51771169C>T Copied from the Exome Variant Server GALNT6_000099 4/13006 4/8600 0/4406
1 c.492-10A>G r.(=) p.(=) g.51771161T>C Copied from the Exome Variant Server GALNT6_000098 44/13006 41/8600 3/4406
1 c.492-2A>T r.spl? p.? g.51771153T>A Copied from the Exome Variant Server GALNT6_000097 1/13006 0/8600 1/4406
1 c.515G>A r.(?) p.(Arg172His) g.51771128C>T Copied from the Exome Variant Server GALNT6_000096 1/13006 1/8600 0/4406
1 c.524C>A r.(?) p.(Pro175Gln) g.51771119G>T Copied from the Exome Variant Server GALNT6_000095 218/13006 1/8600 217/4406
1 c.543G>A r.(=) p.(=) g.51771100C>T Copied from the Exome Variant Server GALNT6_000094 127/13006 2/8600 125/4406
1 c.555C>T r.(=) p.(=) g.51771088G>A Copied from the Exome Variant Server GALNT6_000093 1/13006 1/8600 0/4406
1 c.562G>A r.(?) p.(Glu188Lys) g.51771081C>T Copied from the Exome Variant Server GALNT6_000092 1/13006 1/8600 0/4406
1 c.598G>A r.(?) p.(Val200Ile) g.51771045C>T Copied from the Exome Variant Server GALNT6_000091 2/13006 1/8600 1/4406
1 c.603A>G r.(=) p.(=) g.51771040T>C Copied from the Exome Variant Server GALNT6_000090 546/13006 338/8600 208/4406
1 c.664+21A>T r.(=) p.(=) g.51770958T>A Copied from the Exome Variant Server GALNT6_000089 1/13006 0/8600 1/4406
1 c.664+31C>T r.(=) p.(=) g.51770948G>A Copied from the Exome Variant Server GALNT6_000088 1/13006 1/8600 0/4406
1 c.664+32G>A r.(=) p.(=) g.51770947C>T Copied from the Exome Variant Server GALNT6_000087 2/13006 1/8600 1/4406
1 c.665-45T>C r.(=) p.(=) g.51759408A>G Copied from the Exome Variant Server GALNT6_000086 50/13006 43/8600 7/4406
1 c.665-35T>C r.(=) p.(=) g.51759398A>G Copied from the Exome Variant Server GALNT6_000085 14/13006 14/8600 0/4406
1 c.665-7del r.(=) p.(=) g.51759370del Copied from the Exome Variant Server GALNT6_000084 2/12518 2/8254 0/4264
1 c.669C>T r.(=) p.(=) g.51759359G>A Copied from the Exome Variant Server GALNT6_000083 5/13006 4/8600 1/4406
1 c.694G>A r.(?) p.(Val232Met) g.51759334C>T Copied from the Exome Variant Server GALNT6_000082 1/13006 1/8600 0/4406
1 c.723G>A r.(=) p.(=) g.51759305C>T Copied from the Exome Variant Server GALNT6_000080 37/13006 31/8600 6/4406
1 c.736C>T r.(?) p.(Arg246Trp) g.51759292G>A Copied from the Exome Variant Server GALNT6_000078 1/13006 0/8600 1/4406
1 c.757C>T r.(?) p.(Arg253Trp) g.51759271G>A Copied from the Exome Variant Server GALNT6_000076 1/13006 1/8600 0/4406
1 c.774C>T r.(=) p.(=) g.51759254G>A Copied from the Exome Variant Server GALNT6_000075 1/13006 1/8600 0/4406
1 c.785C>T r.(?) p.(Ala262Val) g.51759243G>A Copied from the Exome Variant Server GALNT6_000081 1/13006 0/8600 1/4406
1 c.786G>A r.(=) p.(=) g.51759242C>T Copied from the Exome Variant Server GALNT6_000079 19/13006 2/8600 17/4406
1 c.814+17C>T r.(=) p.(=) g.51759197G>A Copied from the Exome Variant Server GALNT6_000077 53/13006 0/8600 53/4406
1 c.814+25G>C r.(=) p.(=) g.51759189C>G Copied from the Exome Variant Server GALNT6_000074 2/13006 2/8600 0/4406
1 c.815-10G>C r.(=) p.(=) g.51758149C>G Copied from the Exome Variant Server GALNT6_000073 1/13006 1/8600 0/4406
1 c.848T>C r.(?) p.(Leu283Pro) g.51758106A>G Copied from the Exome Variant Server GALNT6_000072 1/13006 1/8600 0/4406
1 c.853C>T r.(?) p.(Arg285*) g.51758101G>A Copied from the Exome Variant Server GALNT6_000071 1/13006 1/8600 0/4406
1 c.859G>A r.(?) p.(Ala287Thr) g.51758095C>T Copied from the Exome Variant Server GALNT6_000070 1/13006 0/8600 1/4406
1 c.864G>C r.(?) p.(Glu288Asp) g.51758090C>G Copied from the Exome Variant Server GALNT6_000069 1/13006 0/8600 1/4406
1 c.879G>A r.(=) p.(=) g.51758075C>T Copied from the Exome Variant Server GALNT6_000068 1/13006 0/8600 1/4406
1 c.901A>G r.(?) p.(Ile301Val) g.51758053T>C Copied from the Exome Variant Server GALNT6_000067 1/13006 1/8600 0/4406
1 c.903C>T r.(=) p.(=) g.51758051G>A Copied from the Exome Variant Server GALNT6_000066 1/13006 1/8600 0/4406
1 c.924C>T r.(=) p.(=) g.51758030G>A Copied from the Exome Variant Server GALNT6_000065 1/13006 1/8600 0/4406
1 c.925G>A r.(?) p.(Ala309Thr) g.51758029C>T Copied from the Exome Variant Server GALNT6_000064 46/13006 0/8600 46/4406
1 c.934G>A r.(?) p.(Val312Ile) g.51758020C>T Copied from the Exome Variant Server GALNT6_000063 1/13006 0/8600 1/4406
1 c.943G>A r.(?) p.(Gly315Ser) g.51758011C>T Copied from the Exome Variant Server GALNT6_000062 2/13006 2/8600 0/4406
1 c.948A>G r.(=) p.(=) g.51758006T>C Copied from the Exome Variant Server GALNT6_000061 1/13006 0/8600 1/4406
1 c.959G>A r.(?) p.(Arg320Gln) g.51757995C>T Copied from the Exome Variant Server GALNT6_000060 4/13006 4/8600 0/4406
1 c.978C>T r.(=) p.(=) g.51757976G>A Copied from the Exome Variant Server GALNT6_000059 1/13006 1/8600 0/4406
1 c.1025G>A r.(?) p.(Arg342His) g.51757929C>T Copied from the Exome Variant Server GALNT6_000058 1/13006 0/8600 1/4406
1 c.1038C>T r.(=) p.(=) g.51757916G>A Copied from the Exome Variant Server GALNT6_000057 1/13006 1/8600 0/4406
1 c.1039T>C r.(?) p.(Tyr347His) g.51757915A>G Copied from the Exome Variant Server GALNT6_000056 1/13006 1/8600 0/4406
1 c.1049+9C>T r.(=) p.(=) g.51757896G>A Copied from the Exome Variant Server GALNT6_000055 1/13006 1/8600 0/4406
1 c.1049+10G>A r.(=) p.(=) g.51757895C>T Copied from the Exome Variant Server GALNT6_000054 2/13006 1/8600 1/4406
1 c.1049+40G>A r.(=) p.(=) g.51757865C>T Copied from the Exome Variant Server GALNT6_000053 9/13006 0/8600 9/4406
1 c.1050-49G>A r.(=) p.(=) g.51754671C>T Copied from the Exome Variant Server GALNT6_000052 1/13006 1/8600 0/4406
1 c.1050-21C>T r.(=) p.(=) g.51754643G>A Copied from the Exome Variant Server GALNT6_000051 1/13006 0/8600 1/4406
1 c.1050-7T>C r.(=) p.(=) g.51754629A>G Copied from the Exome Variant Server GALNT6_000050 2677/13006 2183/8600 494/4406
1 c.1059G>A r.(=) p.(=) g.51754613C>T Copied from the Exome Variant Server GALNT6_000049 1/13006 0/8600 1/4406
1 c.1101G>A r.(=) p.(=) g.51754571C>T Copied from the Exome Variant Server GALNT6_000048 2/13006 0/8600 2/4406
1 c.1127T>G r.(?) p.(Met376Arg) g.51754545A>C Copied from the Exome Variant Server GALNT6_000047 5/13006 5/8600 0/4406
1 c.1149C>T r.(=) p.(=) g.51754523G>A Copied from the Exome Variant Server GALNT6_000046 1/13006 0/8600 1/4406
1 c.1166G>A r.(?) p.(Arg389Gln) g.51754506C>T Copied from the Exome Variant Server GALNT6_000045 2/13006 2/8600 0/4406
1 c.1167+39C>T r.(=) p.(=) g.51754466G>A Copied from the Exome Variant Server GALNT6_000044 3/13006 3/8600 0/4406
1 c.1167+41A>G r.(=) p.(=) g.51754464T>C Copied from the Exome Variant Server GALNT6_000043 7/13006 0/8600 7/4406
1 c.1167+44C>T r.(=) p.(=) g.51754461G>A Copied from the Exome Variant Server GALNT6_000042 2/13006 0/8600 2/4406
1 c.1167+45G>A r.(=) p.(=) g.51754460C>T Copied from the Exome Variant Server GALNT6_000041 1/13006 1/8600 0/4406
1 c.1168-6C>T r.(=) p.(=) g.51753122G>A Copied from the Exome Variant Server GALNT6_000040 1/13006 1/8600 0/4406
1 c.1197C>T r.(=) p.(=) g.51753087G>A Copied from the Exome Variant Server GALNT6_000039 2/13006 0/8600 2/4406
1 c.1213G>A r.(?) p.(Val405Ile) g.51753071C>T Copied from the Exome Variant Server GALNT6_000038 1/13006 0/8600 1/4406
1 c.1229G>A r.(?) p.(Arg410Gln) g.51753055C>T Copied from the Exome Variant Server GALNT6_000037 1/13006 0/8600 1/4406
1 c.1263T>C r.(=) p.(=) g.51753021A>G Copied from the Exome Variant Server GALNT6_000036 1/13006 1/8600 0/4406
1 c.1267G>A r.(?) p.(Val423Ile) g.51753017C>T Copied from the Exome Variant Server GALNT6_000035 1/13006 0/8600 1/4406
1 c.1277G>A r.(?) p.(Arg426His) g.51753007C>T Copied from the Exome Variant Server GALNT6_000034 1/13006 1/8600 0/4406
1 c.1281T>A r.(?) p.(Asn427Lys) g.51753003A>T Copied from the Exome Variant Server GALNT6_000033 1/13006 1/8600 0/4406
1 c.1289G>A r.(?) p.(Arg430His) g.51752995C>T Copied from the Exome Variant Server GALNT6_000032 1/13006 1/8600 0/4406
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