Unique variants in gene NLE1

Information The variants shown are described using the NM_018096.3 transcript reference sequence.

119 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.-8G>C r.(=) p.(=) g.33469302C>G Copied from the Exome Variant Server NLE1_000119 40/11498 0/7654 40/3844
1 c.16C>G r.(?) p.(Pro6Ala) g.33469279G>C Copied from the Exome Variant Server NLE1_000118 10645/10788 7070/7194 3575/3594
1 c.18+44C>T r.(=) p.(=) g.33469233G>A Copied from the Exome Variant Server NLE1_000117 1/12442 0/8244 1/4198
1 c.46C>T r.(?) p.(Arg16Trp) g.33469114G>A Copied from the Exome Variant Server NLE1_000116 10/13004 8/8598 2/4406
1 c.67G>A r.(?) p.(Asp23Asn) g.33469093C>T Copied from the Exome Variant Server NLE1_000115 1/13006 0/8600 1/4406
1 c.95C>T r.(?) p.(Pro32Leu) g.33469065G>A Copied from the Exome Variant Server NLE1_000114 2/13006 0/8600 2/4406
1 c.108C>T r.(=) p.(=) g.33469052G>A Copied from the Exome Variant Server NLE1_000113 124/13006 2/8600 122/4406
1 c.162+38C>G r.(=) p.(=) g.33468960G>C Copied from the Exome Variant Server NLE1_000112 1/12570 0/8326 1/4244
1 c.163-42A>G r.(=) p.(=) g.33467127T>C Copied from the Exome Variant Server NLE1_000111 1/13006 0/8600 1/4406
1 c.163-29C>T r.(=) p.(=) g.33467114G>A Copied from the Exome Variant Server NLE1_000110 3/13006 3/8600 0/4406
1 c.192C>T r.(=) p.(=) g.33467056G>A Copied from the Exome Variant Server NLE1_000109 5/13006 0/8600 5/4406
1 c.195C>T r.(=) p.(=) g.33467053G>A Copied from the Exome Variant Server NLE1_000108 4/13006 3/8600 1/4406
1 c.196G>A r.(?) p.(Asp66Asn) g.33467052C>T Copied from the Exome Variant Server NLE1_000107 7/13006 4/8600 3/4406
1 c.226A>T r.(?) p.(Thr76Ser) g.33467022T>A Copied from the Exome Variant Server NLE1_000106 6/13006 6/8600 0/4406
1 c.228G>A r.(=) p.(=) g.33467020C>T Copied from the Exome Variant Server NLE1_000105 2/13006 0/8600 2/4406
1 c.275A>G r.(?) p.(Tyr92Cys) g.33466973T>C Copied from the Exome Variant Server NLE1_000104 1/13006 1/8600 0/4406
1 c.374C>T r.(?) p.(Thr125Met) g.33466874G>A Copied from the Exome Variant Server NLE1_000103 44/13006 0/8600 44/4406
1 c.380A>G r.(?) p.(Lys127Arg) g.33466868T>C Copied from the Exome Variant Server NLE1_000102 1/13006 0/8600 1/4406
1 c.380+14C>T r.(=) p.(=) g.33466854G>A Copied from the Exome Variant Server NLE1_000101 2/13006 0/8600 2/4406
1 c.381-52A>G r.(=) p.(=) g.33466385T>C Copied from the Exome Variant Server NLE1_000100 43/7272 38/4618 5/2654
1 c.381-47G>T r.(=) p.(=) g.33466380C>A Copied from the Exome Variant Server NLE1_000099 1/13006 1/8600 0/4406
1 c.381-29A>G r.(=) p.(=) g.33466362T>C Copied from the Exome Variant Server NLE1_000098 2/13006 0/8600 2/4406
1 c.415C>T r.(?) p.(Arg139Cys) g.33466299G>A Copied from the Exome Variant Server NLE1_000097 1/13006 1/8600 0/4406
1 c.460+42del r.(=) p.(=) g.33466212del Copied from the Exome Variant Server NLE1_000096 38/12518 25/8254 13/4264
1 c.460+46A>G r.(=) p.(=) g.33466208T>C Copied from the Exome Variant Server NLE1_000095 1/13006 1/8600 0/4406
1 c.491G>A r.(?) p.(Trp164*) g.33464879C>T Copied from the Exome Variant Server NLE1_000094 1/13006 1/8600 0/4406
1 c.506G>A r.(?) p.(Arg169Lys) g.33464864C>T Copied from the Exome Variant Server NLE1_000093 10022/13006 6191/8600 3831/4406
1 c.507G>T r.(?) p.(Arg169Ser) g.33464863C>A Copied from the Exome Variant Server NLE1_000092 1/13006 0/8600 1/4406
1 c.520G>C r.(?) p.(Gly174Arg) g.33464850C>G Copied from the Exome Variant Server NLE1_000091 1/13006 1/8600 0/4406
1 c.532G>A r.(?) p.(Gly178Ser) g.33464838C>T Copied from the Exome Variant Server NLE1_000090 1/13006 1/8600 0/4406
1 c.537+41del r.(=) p.(=) g.33464792del Copied from the Exome Variant Server NLE1_000089 14/12518 4/8254 10/4264
1 c.537+55C>T r.(=) p.(=) g.33464778G>A Copied from the Exome Variant Server NLE1_000088 18/4566 1/3182 17/1384
1 c.586G>A r.(?) p.(Ala196Thr) g.33464611C>T Copied from the Exome Variant Server NLE1_000087 1/13006 1/8600 0/4406
1 c.594C>T r.(=) p.(=) g.33464603G>A Copied from the Exome Variant Server NLE1_000086 1/13006 0/8600 1/4406
1 c.612C>T r.(=) p.(=) g.33464585G>A Copied from the Exome Variant Server NLE1_000085 3/13006 0/8600 3/4406
1 c.635C>T r.(?) p.(Ala212Val) g.33464562G>A Copied from the Exome Variant Server NLE1_000084 1/13006 0/8600 1/4406
1 c.635+15C>T r.(=) p.(=) g.33464547G>A Copied from the Exome Variant Server NLE1_000083 1/13006 1/8600 0/4406
1 c.635+28A>G r.(=) p.(=) g.33464534T>C Copied from the Exome Variant Server NLE1_000082 10/13004 9/8598 1/4406
1 c.635+46del r.(=) p.(=) g.33464516del Copied from the Exome Variant Server NLE1_000081 48/12514 29/8252 19/4262
1 c.636-49C>G r.(=) p.(=) g.33464261G>C Copied from the Exome Variant Server NLE1_000080 50/13006 1/8600 49/4406
1 c.636-48A>C r.(=) p.(=) g.33464260T>G Copied from the Exome Variant Server NLE1_000079 1/13006 0/8600 1/4406
1 c.636-42G>T r.(=) p.(=) g.33464254C>A Copied from the Exome Variant Server NLE1_000078 681/13006 208/8600 473/4406
1 c.636-36A>T r.(=) p.(=) g.33464248T>A Copied from the Exome Variant Server NLE1_000077 1/13006 1/8600 0/4406
1 c.636-23G>T r.(=) p.(=) g.33464235C>A Copied from the Exome Variant Server NLE1_000076 43/13006 0/8600 43/4406
1 c.648C>T r.(=) p.(=) g.33464200G>A Copied from the Exome Variant Server NLE1_000075 3/13006 0/8600 3/4406
1 c.649C>A r.(?) p.(Arg217Ser) g.33464199G>T Copied from the Exome Variant Server NLE1_000074 4/13006 3/8600 1/4406
1 c.678C>T r.(=) p.(=) g.33464170G>A Copied from the Exome Variant Server NLE1_000073 1/13006 0/8600 1/4406
1 c.702T>C r.(=) p.(=) g.33464146A>G Copied from the Exome Variant Server NLE1_000072 1/13006 1/8600 0/4406
1 c.718C>T r.(?) p.(Arg240Cys) g.33464130G>A Copied from the Exome Variant Server NLE1_000071 1/13006 1/8600 0/4406
1 c.738C>T r.(=) p.(=) g.33464110G>A Copied from the Exome Variant Server NLE1_000070 2/13006 2/8600 0/4406
1 c.772G>A r.(?) p.(Gly258Arg) g.33464076C>T Copied from the Exome Variant Server NLE1_000069 1/13006 1/8600 0/4406
1 c.828C>T r.(=) p.(=) g.33464020G>A Copied from the Exome Variant Server NLE1_000068 11/13006 0/8600 11/4406
1 c.828+26C>T r.(=) p.(=) g.33463994G>A Copied from the Exome Variant Server NLE1_000067 1/13006 0/8600 1/4406
1 c.828+40G>A r.(=) p.(=) g.33463980C>T Copied from the Exome Variant Server NLE1_000066 1/13006 0/8600 1/4406
1 c.829-52G>A r.(=) p.(=) g.33463568C>T Copied from the Exome Variant Server NLE1_000065 3372/7272 2169/4618 1203/2654
1 c.829-45C>T r.(=) p.(=) g.33463561G>A Copied from the Exome Variant Server NLE1_000064 1/13006 1/8600 0/4406
1 c.829-34G>T r.(=) p.(=) g.33463550C>A Copied from the Exome Variant Server NLE1_000063 10/13006 0/8600 10/4406
1 c.829-4G>A r.spl? p.? g.33463520C>T Copied from the Exome Variant Server NLE1_000062 1/13006 0/8600 1/4406
1 c.841C>T r.(?) p.(Arg281Trp) g.33463504G>A Copied from the Exome Variant Server NLE1_000061 1/13006 1/8600 0/4406
1 c.883C>T r.(?) p.(Leu295Phe) g.33463462G>A Copied from the Exome Variant Server NLE1_000060 41/13006 37/8600 4/4406
1 c.904C>T r.(?) p.(Arg302Cys) g.33463441G>A Copied from the Exome Variant Server NLE1_000059 1/13006 0/8600 1/4406
1 c.955C>A r.(?) p.(Gln319Lys) g.33463390G>T Copied from the Exome Variant Server NLE1_000058 527/13006 3/8600 524/4406
1 c.964+9T>C r.(=) p.(=) g.33463372A>G Copied from the Exome Variant Server NLE1_000057 1/13006 0/8600 1/4406
1 c.964+30G>C r.(=) p.(=) g.33463351C>G Copied from the Exome Variant Server NLE1_000056 235/13006 1/8600 234/4406
1 c.965-40_965-38del r.(=) p.(=) g.33463272_33463274del Copied from the Exome Variant Server NLE1_000055 1/12514 0/8252 1/4262
1 c.965-19C>T r.(=) p.(=) g.33463253G>A Copied from the Exome Variant Server NLE1_000054 528/13006 2/8600 526/4406
1 c.965-16C>T r.(=) p.(=) g.33463250G>A Copied from the Exome Variant Server NLE1_000053 1/13006 1/8600 0/4406
1 c.988C>A r.(?) p.(Leu330Met) g.33463211G>T Copied from the Exome Variant Server NLE1_000052 1/13006 0/8600 1/4406
1 c.1011+20G>T r.(=) p.(=) g.33463168C>A Copied from the Exome Variant Server NLE1_000051 1/13006 1/8600 0/4406
1 c.1011+58T>C r.(=) p.(=) g.33463130A>G Copied from the Exome Variant Server NLE1_000050 1/4566 1/3182 0/1384
1 c.1011+74C>T r.(=) p.(=) g.33463114G>A Copied from the Exome Variant Server NLE1_000049 2/4566 0/3182 2/1384
1 c.1012-46C>G r.(=) p.(=) g.33462516G>C Copied from the Exome Variant Server NLE1_000048 1/13006 1/8600 0/4406
1 c.1012-38G>T r.(=) p.(=) g.33462508C>A Copied from the Exome Variant Server NLE1_000047 1/13006 1/8600 0/4406
1 c.1034_1038del r.(?) p.(Val345Glyfs*37) g.33462444_33462448del Copied from the Exome Variant Server NLE1_000046 2/12518 2/8254 0/4264
1 c.1047C>T r.(=) p.(=) g.33462435G>A Copied from the Exome Variant Server NLE1_000045 31/13006 0/8600 31/4406
1 c.1058T>C r.(?) p.(Leu353Ser) g.33462424A>G Copied from the Exome Variant Server NLE1_000044 3/13006 3/8600 0/4406
1 c.1061T>G r.(?) p.(Phe354Cys) g.33462421A>C Copied from the Exome Variant Server NLE1_000043 1/13006 0/8600 1/4406
1 c.1065G>C r.(=) p.(=) g.33462417C>G Copied from the Exome Variant Server NLE1_000042 3/13006 3/8600 0/4406
1 c.1081G>A r.(?) p.(Asp361Asn) g.33462401C>T Copied from the Exome Variant Server NLE1_000041 1/13006 0/8600 1/4406
1 c.1099C>T r.(?) p.(Arg367Trp) g.33462383G>A Copied from the Exome Variant Server NLE1_000040 3/13006 0/8600 3/4406
1 c.1114C>G r.(?) p.(Gln372Glu) g.33462368G>C Copied from the Exome Variant Server NLE1_000039 1/13006 1/8600 0/4406
1 c.1152C>G r.(=) p.(=) g.33462330G>C Copied from the Exome Variant Server NLE1_000038 1/13006 1/8600 0/4406
1 c.1153C>T r.(?) p.(Arg385Cys) g.33462329G>A Copied from the Exome Variant Server NLE1_000037 1/13006 0/8600 1/4406
1 c.1156A>T r.(?) p.(Ile386Phe) g.33462326T>A Copied from the Exome Variant Server NLE1_000036 1/13006 1/8600 0/4406
1 c.1208C>T r.(?) p.(Thr403Met) g.33462274G>A Copied from the Exome Variant Server NLE1_000035 1/13006 0/8600 1/4406
1 c.1209G>A r.(=) p.(=) g.33462273C>T Copied from the Exome Variant Server NLE1_000034 2/13006 2/8600 0/4406
1 c.1214+10G>A r.(=) p.(=) g.33462258C>T Copied from the Exome Variant Server NLE1_000033 1/13006 1/8600 0/4406
1 c.1214+11G>A r.(=) p.(=) g.33462257C>T Copied from the Exome Variant Server NLE1_000032 12/13006 11/8600 1/4406
1 c.1214+41G>A r.(=) p.(=) g.33462227C>T Copied from the Exome Variant Server NLE1_000031 1/13006 1/8600 0/4406
1 c.1216T>C r.(?) p.(Tyr406His) g.33460516A>G Copied from the Exome Variant Server NLE1_000030 46/13004 0/8600 46/4404
1 c.1233C>T r.(=) p.(=) g.33460499G>A Copied from the Exome Variant Server NLE1_000029 1/13006 0/8600 1/4406
1 c.1234G>A r.(?) p.(Gly412Ser) g.33460498C>T Copied from the Exome Variant Server NLE1_000028 1/13006 1/8600 0/4406
1 c.1239C>T r.(=) p.(=) g.33460493G>A Copied from the Exome Variant Server NLE1_000027 1/13006 0/8600 1/4406
1 c.1248C>T r.(=) p.(=) g.33460484G>A Copied from the Exome Variant Server NLE1_000026 2/13006 1/8600 1/4406
1 c.1263G>A r.(=) p.(=) g.33460469C>T Copied from the Exome Variant Server NLE1_000025 2/13006 1/8600 1/4406
1 c.1293C>T r.(=) p.(=) g.33460439G>A Copied from the Exome Variant Server NLE1_000024 3/13006 3/8600 0/4406
1 c.1294G>A r.(?) p.(Gly432Ser) g.33460438C>T Copied from the Exome Variant Server NLE1_000023 12/13006 6/8600 6/4406
1 c.1301G>A r.(?) p.(Ser434Asn) g.33460431C>T Copied from the Exome Variant Server NLE1_000022 46/13006 0/8600 46/4406
1 c.1320G>T r.(=) p.(=) g.33460412C>A Copied from the Exome Variant Server NLE1_000021 1/13006 1/8600 0/4406
1 c.1336C>G r.(?) p.(Gln446Glu) g.33460396G>C Copied from the Exome Variant Server NLE1_000020 1/13006 1/8600 0/4406
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