Unique variants in gene NAGPA

Information The variants shown are described using the NM_016256.3 transcript reference sequence.

146 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.-11C>T r.(=) p.(=) g.5083926G>A Copied from the Exome Variant Server NAGPA_000146 1/10180 1/6650 0/3530
1 c.34C>T r.(?) p.(Arg12Trp) g.5083882G>A Copied from the Exome Variant Server NAGPA_000145 2/11126 0/7356 2/3770
1 c.65C>G r.(?) p.(Ala22Gly) g.5083851G>C Copied from the Exome Variant Server NAGPA_000144 2/11628 0/7728 2/3900
1 c.83C>T r.(?) p.(Ser28Leu) g.5083833G>A Copied from the Exome Variant Server NAGPA_000143 95/11926 0/7902 95/4024
1 c.86+28G>C N/A N/A g.5083802C>G Copied from the Exome Variant Server NAGPA_000142 31/12240 0/8130 31/4110
1 c.87-40G>A N/A N/A g.5083769C>T Copied from the Exome Variant Server NAGPA_000141 1/12462 1/8272 0/4190
1 c.87-18G>C N/A N/A g.5083747C>G Copied from the Exome Variant Server NAGPA_000140 2/12144 2/8082 0/4062
1 c.93C>T r.(=) p.(=) g.5083723G>A Copied from the Exome Variant Server NAGPA_000139 1/11744 0/7812 1/3932
1 c.137_138del r.(?) p.(Arg46Profs*53) g.5083678_5083679del Copied from the Exome Variant Server NAGPA_000138 348/7934 252/5524 96/2410
1 c.174C>T r.(=) p.(=) g.5083642G>A Copied from the Exome Variant Server NAGPA_000137 1/8774 1/6140 0/2634
1 c.205G>T r.(?) p.(Ala69Ser) g.5083611C>A Copied from the Exome Variant Server NAGPA_000136 1/7490 0/5314 1/2176
1 c.236G>A r.(?) p.(Arg79His) g.5083580C>T Copied from the Exome Variant Server NAGPA_000135 7/6460 1/4580 6/1880
1 c.333A>G r.(=) p.(=) g.5083483T>C Copied from the Exome Variant Server NAGPA_000134 5399/7906 3768/5498 1631/2408
1 c.361G>T r.(?) p.(Ala121Ser) g.5083455C>A Copied from the Exome Variant Server NAGPA_000133 1/10032 1/6854 0/3178
1 c.381G>T r.(=) p.(=) g.5083435C>A Copied from the Exome Variant Server NAGPA_000132 241/10372 4/7040 237/3332
1 c.441G>A r.(=) p.(=) g.5083375C>T Copied from the Exome Variant Server NAGPA_000131 1/11316 1/7570 0/3746
1 c.455T>C r.(?) p.(Val152Ala) g.5083361A>G Copied from the Exome Variant Server NAGPA_000130 6/11338 4/7610 2/3728
1 c.514A>G r.(?) p.(Ile172Val) g.5083302T>C Copied from the Exome Variant Server NAGPA_000129 1/11478 1/7720 0/3758
1 c.542+24C>T r.(=) p.(=) g.5083250G>A Copied from the Exome Variant Server NAGPA_000128 44/11218 0/7534 44/3684
1 c.543-56_543-53del r.(=) p.(=) g.5081938_5081941del Copied from the Exome Variant Server NAGPA_000127 1/12518 0/8254 1/4264
1 c.543-52A>G r.(=) p.(=) g.5081937T>C Copied from the Exome Variant Server NAGPA_000126 1/7260 1/4618 0/2642
1 c.543-48G>C r.(=) p.(=) g.5081933C>G Copied from the Exome Variant Server NAGPA_000125 1/12994 0/8600 1/4394
1 c.543-39C>T r.(=) p.(=) g.5081924G>A Copied from the Exome Variant Server NAGPA_000124 99/12994 0/8600 99/4394
1 c.543-34T>A r.(=) p.(=) g.5081919A>T Copied from the Exome Variant Server NAGPA_000123 206/12994 185/8600 21/4394
1 c.543-31T>C r.(=) p.(=) g.5081916A>G Copied from the Exome Variant Server NAGPA_000122 1/12994 0/8600 1/4394
1 c.543-8G>A r.(=) p.(=) g.5081893C>T Copied from the Exome Variant Server NAGPA_000121 5/12994 5/8600 0/4394
1 c.543G>T r.(=) p.(=) g.5081885C>A Copied from the Exome Variant Server NAGPA_000120 1/12994 1/8600 0/4394
1 c.559G>A r.(?) p.(Glu187Lys) g.5081869C>T Copied from the Exome Variant Server NAGPA_000119 1/12994 1/8600 0/4394
1 c.562G>A r.(?) p.(Val188Met) g.5081866C>T Copied from the Exome Variant Server NAGPA_000118 2/12994 1/8600 1/4394
1 c.591G>C r.(?) p.(Gln197His) g.5081837C>G Copied from the Exome Variant Server NAGPA_000117 6/12994 6/8600 0/4394
1 c.595C>G r.(?) p.(Leu199Val) g.5081833G>C Copied from the Exome Variant Server NAGPA_000116 1/12994 0/8600 1/4394
1 c.607G>A r.(?) p.(Val203Met) g.5081821C>T Copied from the Exome Variant Server NAGPA_000115 2/12994 0/8600 2/4394
1 c.609G>T r.(=) p.(=) g.5081819C>A Copied from the Exome Variant Server NAGPA_000114 1/12994 0/8600 1/4394
1 c.620G>C r.(?) p.(Arg207Pro) g.5081808C>G Copied from the Exome Variant Server NAGPA_000113 1/12994 1/8600 0/4394
1 c.641A>G r.(?) p.(Asn214Ser) g.5081787T>C Copied from the Exome Variant Server NAGPA_000112 14/12994 0/8600 14/4394
1 c.645G>C r.(?) p.(Glu215Asp) g.5081783C>G Copied from the Exome Variant Server NAGPA_000111 1/12994 1/8600 0/4394
1 c.660G>A r.(=) p.(=) g.5081768C>T Copied from the Exome Variant Server NAGPA_000110 1/12994 0/8600 1/4394
1 c.667G>A r.(?) p.(Glu223Lys) g.5081761C>T Copied from the Exome Variant Server NAGPA_000109 9/12994 0/8600 9/4394
1 c.676G>C r.(?) p.(Glu226Gln) g.5081752C>G Copied from the Exome Variant Server NAGPA_000108 3/12994 3/8600 0/4394
1 c.682+32C>T r.(=) p.(=) g.5081714G>A Copied from the Exome Variant Server NAGPA_000107 1/12994 0/8600 1/4394
1 c.683-35A>C r.(=) p.(=) g.5080529T>G Copied from the Exome Variant Server NAGPA_000106 1/12524 1/8282 0/4242
1 c.683-30C>T r.(=) p.(=) g.5080524G>A Copied from the Exome Variant Server NAGPA_000105 49/12552 45/8298 4/4254
1 c.683-29G>A r.(=) p.(=) g.5080523C>T Copied from the Exome Variant Server NAGPA_000104 2933/12572 2532/8310 401/4262
1 c.687C>T r.(=) p.(=) g.5080490G>A Copied from the Exome Variant Server NAGPA_000103 1/12800 1/8458 0/4342
1 c.709A>T r.(?) p.(Ile237Leu) g.5080468T>A Copied from the Exome Variant Server NAGPA_000101 1/12848 0/8492 1/4356
1 c.710T>A r.(?) p.(Ile237Lys) g.5080467A>T Copied from the Exome Variant Server NAGPA_000099 1/12844 1/8488 0/4356
1 c.722C>T r.(?) p.(Thr241Met) g.5080455G>A Copied from the Exome Variant Server NAGPA_000097 1/12888 1/8524 0/4364
1 c.740G>A r.(?) p.(Arg247Gln) g.5080437C>T Copied from the Exome Variant Server NAGPA_000095 1/12890 0/8520 1/4370
1 c.749A>C r.(?) p.(Gln250Pro) g.5080428T>G Copied from the Exome Variant Server NAGPA_000093 1/12890 1/8518 0/4372
1 c.780G>A r.(=) p.(=) g.5080397C>T Copied from the Exome Variant Server NAGPA_000091 1/12750 0/8434 1/4316
1 c.789T>C r.(=) p.(=) g.5080388A>G Copied from the Exome Variant Server NAGPA_000089 6/12648 0/8360 6/4288
1 c.791+26del r.(=) p.(=) g.5080360del Copied from the Exome Variant Server NAGPA_000087 29/11422 13/7474 16/3948
1 c.791+48G>A r.(=) p.(=) g.5080338C>T Copied from the Exome Variant Server NAGPA_000102 1/11514 1/7522 0/3992
1 c.792-34C>T r.(=) p.(=) g.5079043G>A Copied from the Exome Variant Server NAGPA_000100 1/12994 1/8600 0/4394
1 c.792-18C>T r.(=) p.(=) g.5079027G>A Copied from the Exome Variant Server NAGPA_000098 3/12994 3/8600 0/4394
1 c.792-17G>T r.(=) p.(=) g.5079026C>A Copied from the Exome Variant Server NAGPA_000096 1/12994 1/8600 0/4394
1 c.792-17_792del N/A N/A g.5079009_5079026del Copied from the Exome Variant Server NAGPA_000094 1/12518 1/8254 0/4264
1 c.812C>T r.(?) p.(Ala271Val) g.5078989G>A Copied from the Exome Variant Server NAGPA_000092 3/12994 0/8600 3/4394
1 c.816G>A r.(=) p.(=) g.5078985C>T Copied from the Exome Variant Server NAGPA_000090 1/12994 1/8600 0/4394
1 c.838G>C r.(?) p.(Val280Leu) g.5078963C>G Copied from the Exome Variant Server NAGPA_000088 5/12994 0/8600 5/4394
1 c.843C>T r.(=) p.(=) g.5078958G>A Copied from the Exome Variant Server NAGPA_000086 1/12994 0/8600 1/4394
1 c.870T>G r.(=) p.(=) g.5078931A>C Copied from the Exome Variant Server NAGPA_000085 13/12994 13/8600 0/4394
1 c.887A>G r.(?) p.(Asn296Ser) g.5078914T>C Copied from the Exome Variant Server NAGPA_000084 1/12994 1/8600 0/4394
1 c.888C>T r.(=) p.(=) g.5078913G>A Copied from the Exome Variant Server NAGPA_000083 31/12994 1/8600 30/4394
1 c.900C>T r.(=) p.(=) g.5078901G>A Copied from the Exome Variant Server NAGPA_000082 2/12994 0/8600 2/4394
1 c.909G>A r.(=) p.(=) g.5078892C>T Copied from the Exome Variant Server NAGPA_000081 1/12994 0/8600 1/4394
1 c.920+16C>A r.(=) p.(=) g.5078865G>T Copied from the Exome Variant Server NAGPA_000080 2/12994 0/8600 2/4394
1 c.920+24G>A r.(=) p.(=) g.5078857C>T Copied from the Exome Variant Server NAGPA_000079 1186/12994 1075/8600 111/4394
1 c.920+29G>A r.(=) p.(=) g.5078852C>T Copied from the Exome Variant Server NAGPA_000078 416/12994 2/8600 414/4394
1 c.920+40A>G r.(=) p.(=) g.5078841T>C Copied from the Exome Variant Server NAGPA_000077 12990/12994 8600/8600 4390/4394
1 c.920+49C>T r.(=) p.(=) g.5078832G>A Copied from the Exome Variant Server NAGPA_000076 8/12994 7/8600 1/4394
1 c.921-43C>T r.(=) p.(=) g.5078229G>A Copied from the Exome Variant Server NAGPA_000075 3/11866 3/7836 0/4030
1 c.921-34G>A r.(=) p.(=) g.5078220C>T Copied from the Exome Variant Server NAGPA_000074 1411/12220 913/8090 498/4130
1 c.921-29C>G r.(=) p.(=) g.5078215G>C Copied from the Exome Variant Server NAGPA_000073 1455/12400 949/8216 506/4184
1 c.921-25C>T r.(=) p.(=) g.5078211G>A Copied from the Exome Variant Server NAGPA_000072 1/12520 0/8296 1/4224
1 c.921-9C>T r.(=) p.(=) g.5078195G>A Copied from the Exome Variant Server NAGPA_000071 1/12758 0/8442 1/4316
1 c.929A>G r.(?) p.(Asn310Ser) g.5078178T>C Copied from the Exome Variant Server NAGPA_000070 1/12856 1/8502 0/4354
1 c.947G>A r.(?) p.(Arg316His) g.5078160C>T Copied from the Exome Variant Server NAGPA_000069 2/12908 0/8544 2/4364
1 c.951A>G r.(=) p.(=) g.5078156T>C Copied from the Exome Variant Server NAGPA_000068 1/12932 1/8562 0/4370
1 c.976G>C r.(?) p.(Glu326Gln) g.5078131C>G Copied from the Exome Variant Server NAGPA_000067 1/12966 1/8582 0/4384
1 c.982C>T r.(?) p.(Arg328Cys) g.5078125G>A Copied from the Exome Variant Server NAGPA_000066 10/12964 10/8580 0/4384
1 c.983G>A r.(?) p.(Arg328His) g.5078124C>T Copied from the Exome Variant Server NAGPA_000065 2/12966 0/8582 2/4384
1 c.993G>A r.(=) p.(=) g.5078114C>T Copied from the Exome Variant Server NAGPA_000064 1/12962 0/8584 1/4378
1 c.1005C>T r.(=) p.(=) g.5078102G>A Copied from the Exome Variant Server NAGPA_000063 2/12980 0/8592 2/4388
1 c.1006G>A r.(?) p.(Gly336Ser) g.5078101C>T Copied from the Exome Variant Server NAGPA_000062 1/12980 1/8592 0/4388
1 c.1020C>T r.(=) p.(=) g.5078087G>A Copied from the Exome Variant Server NAGPA_000061 2/12988 2/8594 0/4394
1 c.1027G>A r.(?) p.(Gly343Arg) g.5078080C>T Copied from the Exome Variant Server NAGPA_000060 1/12992 0/8598 1/4394
1 c.1066G>A r.(?) p.(Gly356Ser) g.5078041C>T Copied from the Exome Variant Server NAGPA_000059 4/12994 3/8600 1/4394
1 c.1121C>T r.(?) p.(Thr374Met) g.5077986G>A Copied from the Exome Variant Server NAGPA_000058 1/12994 1/8600 0/4394
1 c.1122G>A r.(=) p.(=) g.5077985C>T Copied from the Exome Variant Server NAGPA_000057 10/12994 1/8600 9/4394
1 c.1127-17C>T r.(=) p.(=) g.5077911G>A Copied from the Exome Variant Server NAGPA_000056 1/12936 1/8566 0/4370
1 c.1127-14T>A r.(=) p.(=) g.5077908A>T Copied from the Exome Variant Server NAGPA_000055 1/12906 1/8544 0/4362
1 c.1127-6C>T r.(=) p.(=) g.5077900G>A Copied from the Exome Variant Server NAGPA_000054 1/12806 1/8480 0/4326
1 c.1127-5G>A r.spl? p.? g.5077899C>T Copied from the Exome Variant Server NAGPA_000053 4/12766 2/8448 2/4318
1 c.1129_1131del r.(?) p.(Gly377del) g.5077890_5077892del Copied from the Exome Variant Server NAGPA_000052 298/11610 187/7688 111/3922
1 c.1146C>T r.(=) p.(=) g.5077875G>A Copied from the Exome Variant Server NAGPA_000051 5/12756 5/8450 0/4306
1 c.1155C>T r.(=) p.(=) g.5077866G>A Copied from the Exome Variant Server NAGPA_000050 1/12798 0/8476 1/4322
1 c.1174+15G>A r.(=) p.(=) g.5077832C>T Copied from the Exome Variant Server NAGPA_000049 2/12544 0/8332 2/4212
1 c.1174+24G>A r.(=) p.(=) g.5077823C>T Copied from the Exome Variant Server NAGPA_000048 2/12456 0/8272 2/4184
1 c.1174+35C>T r.(=) p.(=) g.5077812G>A Copied from the Exome Variant Server NAGPA_000046 6/12136 0/8080 6/4056
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