Unique variants in gene GNL3L

Information The variants shown are described using the NM_019067.5 transcript reference sequence.

108 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.20-47C>T r.(=) p.(=) g.54565426C>T Copied from the Exome Variant Server GNL3L_000001 1/10504 1/6690 0/3814
1 c.20-46G>A r.(=) p.(=) g.54565427G>A Copied from the Exome Variant Server GNL3L_000002 19/10511 0/6696 19/3815
1 c.20-34G>A r.(=) p.(=) g.54565439G>A Copied from the Exome Variant Server GNL3L_000003 8/10545 7/6721 1/3824
1 c.20-27C>G r.(=) p.(=) g.54565446C>G Copied from the Exome Variant Server GNL3L_000004 11/10553 0/6724 11/3829
1 c.20-8T>G r.(=) p.(=) g.54565465T>G Copied from the Exome Variant Server GNL3L_000005 1/10562 1/6727 0/3835
1 c.20-5T>C r.spl? p.? g.54565468T>C Copied from the Exome Variant Server GNL3L_000006 1/10562 1/6727 0/3835
1 c.21A>G r.(=) p.(=) g.54565474A>G Copied from the Exome Variant Server GNL3L_000007 1/10562 0/6727 1/3835
1 c.41G>A r.(?) p.(Gly14Asp) g.54565494G>A Copied from the Exome Variant Server GNL3L_000008 1/10563 1/6728 0/3835
1 c.66T>C r.(=) p.(=) g.54565519T>C Copied from the Exome Variant Server GNL3L_000009 1/10563 0/6728 1/3835
1 c.81+32A>C r.(=) p.(=) g.54565566A>C Copied from the Exome Variant Server GNL3L_000010 1/10562 0/6727 1/3835
1 c.82-26del r.(=) p.(=) g.54566542del Copied from the Exome Variant Server GNL3L_000012 48/10205 37/6484 11/3721
1 c.82-26T>C r.(=) p.(=) g.54566542T>C Copied from the Exome Variant Server GNL3L_000014 2/10563 2/6728 0/3835
1 c.117A>G r.(=) p.(=) g.54566603A>G Copied from the Exome Variant Server GNL3L_000016 1/10563 1/6728 0/3835
1 c.122C>T r.(?) p.(Pro41Leu) g.54566608C>T Copied from the Exome Variant Server GNL3L_000018 14/10563 0/6728 14/3835
1 c.148A>G r.(?) p.(Asn50Asp) g.54566634A>G Copied from the Exome Variant Server GNL3L_000020 10/10563 0/6728 10/3835
1 c.177A>G r.(=) p.(=) g.54566663A>G Copied from the Exome Variant Server GNL3L_000022 1/10554 1/6719 0/3835
1 c.177_179del r.(?) p.(Lys62del) g.54566663_54566665del Copied from the Exome Variant Server GNL3L_000025 77/10205 73/6484 4/3721
1 c.190-21C>T r.(=) p.(=) g.54567685C>T Copied from the Exome Variant Server GNL3L_000027 2/10563 0/6728 2/3835
1 c.219C>T r.(=) p.(=) g.54567735C>T Copied from the Exome Variant Server GNL3L_000029 1/10563 0/6728 1/3835
1 c.253A>G r.(?) p.(Ile85Val) g.54567769A>G Copied from the Exome Variant Server GNL3L_000011 1/10563 0/6728 1/3835
1 c.283C>T r.(?) p.(Arg95Cys) g.54567799C>T Copied from the Exome Variant Server GNL3L_000013 4/10563 0/6728 4/3835
1 c.307-39C>T r.(=) p.(=) g.54569349C>T Copied from the Exome Variant Server GNL3L_000015 67/10516 0/6713 67/3803
1 c.307-34C>T r.(=) p.(=) g.54569354C>T Copied from the Exome Variant Server GNL3L_000017 41/10523 38/6714 3/3809
1 c.307-18del r.(=) p.(=) g.54569370del Copied from the Exome Variant Server GNL3L_000021 102/10184 55/6474 47/3710
1 c.307-18dup r.(=) p.(=) g.54569370dup Copied from the Exome Variant Server GNL3L_000019 100/10184 71/6474 29/3710
1 c.307-10T>C r.(=) p.(=) g.54569378T>C Copied from the Exome Variant Server GNL3L_000023 11/10557 0/6726 11/3831
1 c.329A>C r.(?) p.(Asn110Thr) g.54569410A>C Copied from the Exome Variant Server GNL3L_000024 1/10563 0/6728 1/3835
1 c.333G>C r.(?) p.(Met111Ile) g.54569414G>C Copied from the Exome Variant Server GNL3L_000026 1/10563 0/6728 1/3835
1 c.351C>T r.(=) p.(=) g.54569432C>T Copied from the Exome Variant Server GNL3L_000028 1/10563 1/6728 0/3835
1 c.375C>T r.(=) p.(=) g.54569456C>T Copied from the Exome Variant Server GNL3L_000030 1/10563 0/6728 1/3835
1 c.379G>C r.(?) p.(Glu127Gln) g.54569460G>C Copied from the Exome Variant Server GNL3L_000031 2/10563 0/6728 2/3835
1 c.390+30C>T r.(=) p.(=) g.54569501C>T Copied from the Exome Variant Server GNL3L_000032 1/10563 1/6728 0/3835
1 c.391-16G>A r.(=) p.(=) g.54569624G>A Copied from the Exome Variant Server GNL3L_000033 7/10563 6/6728 1/3835
1 c.459C>G r.(?) p.(Phe153Leu) g.54569708C>G Copied from the Exome Variant Server GNL3L_000034 26/10563 0/6728 26/3835
1 c.463A>G r.(?) p.(Met155Val) g.54569712A>G Copied from the Exome Variant Server GNL3L_000035 1/10563 0/6728 1/3835
1 c.494A>G r.(?) p.(Asn165Ser) g.54569743A>G Copied from the Exome Variant Server GNL3L_000036 1/10563 1/6728 0/3835
1 c.526+15G>C r.(=) p.(=) g.54569790G>C Copied from the Exome Variant Server GNL3L_000037 1/10563 1/6728 0/3835
1 c.526+47A>G r.(=) p.(=) g.54569822A>G Copied from the Exome Variant Server GNL3L_000038 1/10563 1/6728 0/3835
1 c.527-23A>G r.(=) p.(=) g.54570633A>G Copied from the Exome Variant Server GNL3L_000039 1/10563 0/6728 1/3835
1 c.527-13A>G r.(=) p.(=) g.54570643A>G Copied from the Exome Variant Server GNL3L_000041 1/10562 1/6728 0/3834
1 c.527-6C>T r.(=) p.(=) g.54570650C>T Copied from the Exome Variant Server GNL3L_000043 2/10562 0/6728 2/3834
1 c.547G>A r.(?) p.(Val183Met) g.54570676G>A Copied from the Exome Variant Server GNL3L_000045 1/10563 1/6728 0/3835
1 c.581T>G r.(?) p.(Leu194Trp) g.54570710T>G Copied from the Exome Variant Server GNL3L_000047 1/10561 0/6727 1/3834
1 c.588C>T r.(=) p.(=) g.54570717C>T Copied from the Exome Variant Server GNL3L_000049 5/10562 0/6728 5/3834
1 c.630+16G>T r.(=) p.(=) g.54570775G>T Copied from the Exome Variant Server GNL3L_000107 3/10560 2/6725 1/3835
1 c.630+17G>A r.(=) p.(=) g.54570776G>A Copied from the Exome Variant Server GNL3L_000040 1/10558 0/6724 1/3834
1 c.630+21A>G r.(=) p.(=) g.54570780A>G Copied from the Exome Variant Server GNL3L_000108 34/10557 34/6723 0/3834
1 c.631-18T>C r.(=) p.(=) g.54574644T>C Copied from the Exome Variant Server GNL3L_000042 1402/10563 103/6728 1299/3835
1 c.631-14A>G r.(=) p.(=) g.54574648A>G Copied from the Exome Variant Server GNL3L_000044 1/10563 0/6728 1/3835
1 c.635G>A r.(?) p.(Arg212His) g.54574666G>A Copied from the Exome Variant Server GNL3L_000046 1/10563 1/6728 0/3835
1 c.714G>C r.(?) p.(Arg238Ser) g.54574745G>C Copied from the Exome Variant Server GNL3L_000048 1/10563 0/6728 1/3835
1 c.733C>T r.(?) p.(Arg245Cys) g.54574764C>T Copied from the Exome Variant Server GNL3L_000050 1/10563 1/6728 0/3835
1 c.734G>A r.(?) p.(Arg245His) g.54574765G>A Copied from the Exome Variant Server GNL3L_000051 1/10563 1/6728 0/3835
1 c.746T>C r.(?) p.(Val249Ala) g.54574777T>C Copied from the Exome Variant Server GNL3L_000052 1/10563 1/6728 0/3835
1 c.760C>T r.(?) p.(Arg254Cys) g.54574791C>T Copied from the Exome Variant Server GNL3L_000053 3/10563 0/6728 3/3835
1 c.775+21A>G r.(=) p.(=) g.54574827A>G Copied from the Exome Variant Server GNL3L_000054 1/10563 0/6728 1/3835
1 c.775+25G>A r.(=) p.(=) g.54574831G>A Copied from the Exome Variant Server GNL3L_000055 58/10563 1/6728 57/3835
1 c.775+42T>C r.(=) p.(=) g.54574848T>C Copied from the Exome Variant Server GNL3L_000056 95/10563 86/6728 9/3835
1 c.775+44A>G r.(=) p.(=) g.54574850A>G Copied from the Exome Variant Server GNL3L_000057 1/10563 1/6728 0/3835
1 c.775+46C>T r.(=) p.(=) g.54574852C>T Copied from the Exome Variant Server GNL3L_000058 52/10563 10/6728 42/3835
1 c.776-10T>C r.(=) p.(=) g.54577386T>C Copied from the Exome Variant Server GNL3L_000059 3/10563 3/6728 0/3835
1 c.828C>T r.(=) p.(=) g.54577448C>T Copied from the Exome Variant Server GNL3L_000060 1/10563 0/6728 1/3835
1 c.829G>A r.(?) p.(Ala277Thr) g.54577449G>A Copied from the Exome Variant Server GNL3L_000061 1/10563 0/6728 1/3835
1 c.837C>T r.(=) p.(=) g.54577457C>T Copied from the Exome Variant Server GNL3L_000062 1/10563 1/6728 0/3835
1 c.864-41C>T r.(=) p.(=) g.54577960C>T Copied from the Exome Variant Server GNL3L_000063 1/10563 1/6728 0/3835
1 c.864-19_864-17del r.(=) p.(=) g.54577982_54577984del Copied from the Exome Variant Server GNL3L_000064 15/10205 13/6484 2/3721
1 c.967G>A r.(?) p.(Val323Ile) g.54578104G>A Copied from the Exome Variant Server GNL3L_000065 2/10563 2/6728 0/3835
1 c.973G>A r.(?) p.(Val325Met) g.54578110G>A Copied from the Exome Variant Server GNL3L_000066 1/10563 0/6728 1/3835
1 c.976C>A r.(?) p.(Gln326Lys) g.54578113C>A Copied from the Exome Variant Server GNL3L_000067 1/10563 1/6728 0/3835
1 c.1021C>T r.(?) p.(Arg341Cys) g.54578158C>T Copied from the Exome Variant Server GNL3L_000068 1/10563 1/6728 0/3835
1 c.1032G>A r.(=) p.(=) g.54578169G>A Copied from the Exome Variant Server GNL3L_000069 1/10563 1/6728 0/3835
1 c.1038+4C>T r.spl? p.? g.54578179C>T Copied from the Exome Variant Server GNL3L_000070 2/10563 0/6728 2/3835
1 c.1038+5G>A r.spl? p.? g.54578180G>A Copied from the Exome Variant Server GNL3L_000071 1/10563 1/6728 0/3835
1 c.1038+20C>T r.(=) p.(=) g.54578195C>T Copied from the Exome Variant Server GNL3L_000072 118/10563 108/6728 10/3835
1 c.1039-22_1039-18del r.(=) p.(=) g.54578243_54578247del Copied from the Exome Variant Server GNL3L_000073 65/10205 39/6484 26/3721
1 c.1053T>C r.(=) p.(=) g.54578279T>C Copied from the Exome Variant Server GNL3L_000074 7/10563 0/6728 7/3835
1 c.1077T>C r.(=) p.(=) g.54578303T>C Copied from the Exome Variant Server GNL3L_000075 1/10563 1/6728 0/3835
1 c.1092G>A r.(=) p.(=) g.54578318G>A Copied from the Exome Variant Server GNL3L_000076 1/10563 1/6728 0/3835
1 c.1151C>T r.(?) p.(Ala384Val) g.54578377C>T Copied from the Exome Variant Server GNL3L_000077 2/10563 2/6728 0/3835
1 c.1181+33C>T r.(=) p.(=) g.54578440C>T Copied from the Exome Variant Server GNL3L_000078 1/10554 0/6722 1/3832
1 c.1182-10C>G r.(=) p.(=) g.54578715C>G Copied from the Exome Variant Server GNL3L_000079 1/10563 0/6728 1/3835
1 c.1182C>T r.(=) p.(=) g.54578725C>T Copied from the Exome Variant Server GNL3L_000080 19/10563 0/6728 19/3835
1 c.1221C>T r.(=) p.(=) g.54578764C>T Copied from the Exome Variant Server GNL3L_000081 2/10563 0/6728 2/3835
1 c.1255A>G r.(?) p.(Lys419Glu) g.54578798A>G Copied from the Exome Variant Server GNL3L_000082 3/10563 3/6728 0/3835
1 c.1281C>T r.(=) p.(=) g.54578824C>T Copied from the Exome Variant Server GNL3L_000083 1/10563 1/6728 0/3835
1 c.1300A>G r.(?) p.(Asn434Asp) g.54578843A>G Copied from the Exome Variant Server GNL3L_000084 2/10563 0/6728 2/3835
1 c.1318+18del r.(=) p.(=) g.54578879del Copied from the Exome Variant Server GNL3L_000085 1/10197 0/6484 1/3713
1 c.1318+35C>G r.(=) p.(=) g.54578896C>G Copied from the Exome Variant Server GNL3L_000086 1/10563 1/6728 0/3835
1 c.1319-34C>T r.(=) p.(=) g.54580964C>T Copied from the Exome Variant Server GNL3L_000087 1/10563 0/6728 1/3835
1 c.1319-33A>T r.(=) p.(=) g.54580965A>T Copied from the Exome Variant Server GNL3L_000088 3/10563 2/6728 1/3835
1 c.1329C>T r.(=) p.(=) g.54581008C>T Copied from the Exome Variant Server GNL3L_000089 1/10563 1/6728 0/3835
1 c.1338T>C r.(=) p.(=) g.54581017T>C Copied from the Exome Variant Server GNL3L_000090 2/10563 0/6728 2/3835
1 c.1391A>G r.(?) p.(His464Arg) g.54581070A>G Copied from the Exome Variant Server GNL3L_000091 1/10563 0/6728 1/3835
1 c.1439T>C r.(?) p.(Val480Ala) g.54581118T>C Copied from the Exome Variant Server GNL3L_000092 1/10563 0/6728 1/3835
1 c.1446+22G>T r.(=) p.(=) g.54581147G>T Copied from the Exome Variant Server GNL3L_000093 1/10563 1/6728 0/3835
1 c.1447-36T>G r.(=) p.(=) g.54584833T>G Copied from the Exome Variant Server GNL3L_000094 1/10563 1/6728 0/3835
1 c.1447-34A>G r.(=) p.(=) g.54584835A>G Copied from the Exome Variant Server GNL3L_000095 1/10563 1/6728 0/3835
1 c.1447-27A>G r.(=) p.(=) g.54584842A>G Copied from the Exome Variant Server GNL3L_000096 3/10563 3/6728 0/3835
1 c.1459A>G r.(?) p.(Thr487Ala) g.54584881A>G Copied from the Exome Variant Server GNL3L_000097 3/10563 0/6728 3/3835
1 c.1478C>T r.(?) p.(Pro493Leu) g.54584900C>T Copied from the Exome Variant Server GNL3L_000098 1/10563 0/6728 1/3835
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