Full data view for gene ATXN7L3

Information The variants shown are described using the NM_001098833.1 transcript reference sequence.

118 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-71_-70insC r.(=) p.(=) g.42275508_42275509insG Copied from the Exome Variant Server ATXN7L3_000118 3/11890 0/7986 3/3904 - - - - - - -
?/? c.-18C>A r.(=) p.(=) g.42275456G>T Copied from the Exome Variant Server ATXN7L3_000117 13/12426 0/8356 13/4070 - - - - - - -
?/? c.-10G>A r.(=) p.(=) g.42275448C>T Copied from the Exome Variant Server ATXN7L3_000116 1/12368 1/8324 0/4044 - - - - - - -
?/? c.26C>T r.(?) p.(Ser9Phe) g.42275413G>A Copied from the Exome Variant Server ATXN7L3_000115 1/12342 1/8338 0/4004 - - - - - - -
?/? c.30C>T r.(=) p.(=) g.42275409G>A Copied from the Exome Variant Server ATXN7L3_000114 1/12338 1/8338 0/4000 - - - - - - -
?/? c.44A>G r.(?) p.(Lys15Arg) g.42275395T>C Copied from the Exome Variant Server ATXN7L3_000113 1/12312 0/8318 1/3994 - - - - - - -
?/? c.51+11C>T r.(=) p.(=) g.42275377G>A Copied from the Exome Variant Server ATXN7L3_000112 1/12318 1/8316 0/4002 - - - - - - -
?/? c.51+50C>T r.(=) p.(=) g.42275338G>A Copied from the Exome Variant Server ATXN7L3_000111 2/12158 2/8264 0/3894 - - - - - - -
?/? c.51+53C>T r.(=) p.(=) g.42275335G>A Copied from the Exome Variant Server ATXN7L3_000110 3/4566 0/3182 3/1384 - - - - - - -
?/? c.52-50C>G r.(=) p.(=) g.42275148G>C Copied from the Exome Variant Server ATXN7L3_000109 1/12194 1/8280 0/3914 - - - - - - -
?/? c.52-44G>A r.(=) p.(=) g.42275142C>T Copied from the Exome Variant Server ATXN7L3_000108 1/12208 1/8286 0/3922 - - - - - - -
?/? c.52-26C>T r.(=) p.(=) g.42275124G>A Copied from the Exome Variant Server ATXN7L3_000107 16/12214 0/8280 16/3934 - - - - - - -
?/? c.52-5C>T r.spl? p.? g.42275103G>A Copied from the Exome Variant Server ATXN7L3_000106 2/12238 2/8298 0/3940 - - - - - - -
?/? c.57C>T r.(=) p.(=) g.42275093G>A Copied from the Exome Variant Server ATXN7L3_000105 2/12276 0/8318 2/3958 - - - - - - -
?/? c.103T>C r.(?) p.(Phe35Leu) g.42275047A>G Copied from the Exome Variant Server ATXN7L3_000104 1/12374 1/8362 0/4012 - - - - - - -
?/? c.153C>A r.(?) p.(Asp51Glu) g.42274997G>T Copied from the Exome Variant Server ATXN7L3_000103 2/12402 0/8376 2/4026 - - - - - - -
?/? c.159G>A r.(=) p.(=) g.42274991C>T Copied from the Exome Variant Server ATXN7L3_000102 1/12388 1/8362 0/4026 - - - - - - -
?/? c.184+23A>C r.(=) p.(=) g.42274943T>G Copied from the Exome Variant Server ATXN7L3_000101 1/12306 1/8334 0/3972 - - - - - - -
?/? c.185-32C>T r.(=) p.(=) g.42274799G>A Copied from the Exome Variant Server ATXN7L3_000100 7/12124 3/8274 4/3850 - - - - - - -
?/? c.185-29C>A r.(=) p.(=) g.42274796G>T Copied from the Exome Variant Server ATXN7L3_000099 5/12128 0/8272 5/3856 - - - - - - -
?/? c.185-13C>T r.(=) p.(=) g.42274780G>A Copied from the Exome Variant Server ATXN7L3_000098 1/12140 0/8260 1/3880 - - - - - - -
?/? c.263A>G r.(?) p.(Asn88Ser) g.42274689T>C Copied from the Exome Variant Server ATXN7L3_000097 1/12444 1/8368 0/4076 - - - - - - -
?/? c.330G>A r.(=) p.(=) g.42274622C>T Copied from the Exome Variant Server ATXN7L3_000096 3/12366 3/8348 0/4018 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.42274616G>A Copied from the Exome Variant Server ATXN7L3_000095 1/12396 1/8354 0/4042 - - - - - - -
?/? c.345C>T r.(=) p.(=) g.42274607G>A Copied from the Exome Variant Server ATXN7L3_000094 2/12364 2/8342 0/4022 - - - - - - -
?/? c.356+14A>G r.(=) p.(=) g.42274582T>C Copied from the Exome Variant Server ATXN7L3_000093 4/12376 0/8358 4/4018 - - - - - - -
?/? c.356+18G>T r.(=) p.(=) g.42274578C>A Copied from the Exome Variant Server ATXN7L3_000092 2/12384 2/8370 0/4014 - - - - - - -
?/? c.356+22G>T r.(=) p.(=) g.42274574C>A Copied from the Exome Variant Server ATXN7L3_000091 23/12380 0/8370 23/4010 - - - - - - -
?/? c.356+39C>T r.(=) p.(=) g.42274557G>A Copied from the Exome Variant Server ATXN7L3_000090 2/12368 0/8368 2/4000 - - - - - - -
?/? c.357-34C>G r.(=) p.(=) g.42274428G>C Copied from the Exome Variant Server ATXN7L3_000089 5/12168 0/8266 5/3902 - - - - - - -
?/? c.357-20del r.(=) p.(=) g.42274414del Copied from the Exome Variant Server ATXN7L3_000088 3/11646 0/7914 3/3732 - - - - - - -
?/? c.365A>G r.(?) p.(Asn122Ser) g.42274386T>C Copied from the Exome Variant Server ATXN7L3_000087 1/12146 1/8260 0/3886 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.42274382G>A Copied from the Exome Variant Server ATXN7L3_000086 3/12138 3/8262 0/3876 - - - - - - -
?/? c.380A>G r.(?) p.(Asn127Ser) g.42274371T>C Copied from the Exome Variant Server ATXN7L3_000085 1/12134 1/8262 0/3872 - - - - - - -
?/? c.454+13C>T r.(=) p.(=) g.42274284G>A Copied from the Exome Variant Server ATXN7L3_000084 8/11970 7/8194 1/3776 - - - - - - -
?/? c.454+18_454+19insGG r.(=) p.(=) g.42274278_42274279insCC Copied from the Exome Variant Server ATXN7L3_000083 2/11436 1/7828 1/3608 - - - - - - -
?/? c.454+24C>T r.(=) p.(=) g.42274273G>A Copied from the Exome Variant Server ATXN7L3_000082 1/11950 0/8184 1/3766 - - - - - - -
?/? c.455-57G>A r.(=) p.(=) g.42273843C>T Copied from the Exome Variant Server ATXN7L3_000081 1/4566 1/3182 0/1384 - - - - - - -
?/? c.455-56C>A r.(=) p.(=) g.42273842G>T Copied from the Exome Variant Server ATXN7L3_000080 1/4566 1/3182 0/1384 - - - - - - -
?/? c.455-12del r.(=) p.(=) g.42273798del Copied from the Exome Variant Server ATXN7L3_000078 1/11496 1/7868 0/3628 - - - - - - -
?/? c.455-12T>C r.(=) p.(=) g.42273798A>G Copied from the Exome Variant Server ATXN7L3_000079 1/11990 0/8224 1/3766 - - - - - - -
?/? c.455-6C>T r.(=) p.(=) g.42273792G>A Copied from the Exome Variant Server ATXN7L3_000077 1/12002 0/8228 1/3774 - - - - - - -
?/? c.463A>C r.(=) p.(=) g.42273778T>G Copied from the Exome Variant Server ATXN7L3_000076 1/12030 0/8238 1/3792 - - - - - - -
?/? c.477+7G>A r.(=) p.(=) g.42273757C>T Copied from the Exome Variant Server ATXN7L3_000075 1/12074 1/8256 0/3818 - - - - - - -
?/? c.477+18C>T r.(=) p.(=) g.42273746G>A Copied from the Exome Variant Server ATXN7L3_000074 1/12100 1/8268 0/3832 - - - - - - -
?/? c.477+20T>C r.(=) p.(=) g.42273744A>G Copied from the Exome Variant Server ATXN7L3_000073 8/12094 8/8270 0/3824 - - - - - - -
?/? c.477+50C>T r.(=) p.(=) g.42273714G>A Copied from the Exome Variant Server ATXN7L3_000072 2/12080 2/8258 0/3822 - - - - - - -
?/? c.477+70T>C r.(=) p.(=) g.42273694A>G Copied from the Exome Variant Server ATXN7L3_000071 4/4566 4/3182 0/1384 - - - - - - -
?/? c.478-64C>T r.(=) p.(=) g.42273511G>A Copied from the Exome Variant Server ATXN7L3_000070 1/6226 0/4222 1/2004 - - - - - - -
?/? c.488C>G r.(?) p.(Ser163Cys) g.42273437G>C Copied from the Exome Variant Server ATXN7L3_000069 1/11934 1/8192 0/3742 - - - - - - -
?/? c.523+13G>A r.(=) p.(=) g.42273389C>T Copied from the Exome Variant Server ATXN7L3_000068 24/11898 0/8186 24/3712 - - - - - - -
?/? c.523+61G>T r.(=) p.(=) g.42273341C>A Copied from the Exome Variant Server ATXN7L3_000067 1/4566 1/3182 0/1384 - - - - - - -
?/? c.524-79C>G r.(=) p.(=) g.42273275G>C Copied from the Exome Variant Server ATXN7L3_000066 1/4566 1/3182 0/1384 - - - - - - -
?/? c.524-19_524-18insC r.(=) p.(=) g.42273214_42273215insG Copied from the Exome Variant Server ATXN7L3_000064 70/11474 48/7866 22/3608 - - - - - - -
?/? c.524-19_524-18insCT r.(=) p.(=) g.42273214_42273215insAG Copied from the Exome Variant Server ATXN7L3_000065 27/11474 21/7866 6/3608 - - - - - - -
?/? c.539C>T r.(?) p.(Ser180Leu) g.42273181G>A Copied from the Exome Variant Server ATXN7L3_000063 1/12098 0/8248 1/3850 - - - - - - -
?/? c.540G>A r.(=) p.(=) g.42273180C>T Copied from the Exome Variant Server ATXN7L3_000062 1/12120 1/8252 0/3868 - - - - - - -
?/? c.544C>T r.(?) p.(Pro182Ser) g.42273176G>A Copied from the Exome Variant Server ATXN7L3_000061 1/12144 1/8260 0/3884 - - - - - - -
?/? c.552+13C>T r.(=) p.(=) g.42273155G>A Copied from the Exome Variant Server ATXN7L3_000060 3/12294 0/8320 3/3974 - - - - - - -
?/? c.552+17C>T r.(=) p.(=) g.42273151G>A Copied from the Exome Variant Server ATXN7L3_000059 12/12318 10/8328 2/3990 - - - - - - -
?/? c.552+29T>A r.(=) p.(=) g.42273139A>T Copied from the Exome Variant Server ATXN7L3_000058 1/12368 1/8358 0/4010 - - - - - - -
?/? c.552+40T>G r.(=) p.(=) g.42273128A>C Copied from the Exome Variant Server ATXN7L3_000057 1/12384 1/8368 0/4016 - - - - - - -
?/? c.552+82T>C r.(=) p.(=) g.42273086A>G Copied from the Exome Variant Server ATXN7L3_000056 5/4566 0/3182 5/1384 - - - - - - -
?/? c.553-46C>G r.(=) p.(=) g.42272901G>C Copied from the Exome Variant Server ATXN7L3_000055 1/12168 1/8276 0/3892 - - - - - - -
?/? c.553-41C>T r.(=) p.(=) g.42272896G>A Copied from the Exome Variant Server ATXN7L3_000054 1/12168 0/8274 1/3894 - - - - - - -
?/? c.565A>G r.(?) p.(Thr189Ala) g.42272843T>C Copied from the Exome Variant Server ATXN7L3_000053 1/12256 0/8318 1/3938 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.42272814C>T Copied from the Exome Variant Server ATXN7L3_000052 1/12372 1/8344 0/4028 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.42272790G>A Copied from the Exome Variant Server ATXN7L3_000051 180/12406 1/8374 179/4032 - - - - - - -
?/? c.620C>T r.(?) p.(Thr207Met) g.42272788G>A Copied from the Exome Variant Server ATXN7L3_000050 1/12396 0/8372 1/4024 - - - - - - -
?/? c.621+12C>T r.(=) p.(=) g.42272775G>A Copied from the Exome Variant Server ATXN7L3_000049 1/12422 0/8360 1/4062 - - - - - - -
?/? c.622-78C>T r.(=) p.(=) g.42272586G>A Copied from the Exome Variant Server ATXN7L3_000048 297/4566 262/3182 35/1384 - - - - - - -
?/? c.622-64_622-61del r.(=) p.(=) g.42272569_42272572del Copied from the Exome Variant Server ATXN7L3_000047 88/11658 2/7924 86/3734 - - - - - - -
?/? c.622-25C>T r.(=) p.(=) g.42272533G>A Copied from the Exome Variant Server ATXN7L3_000046 1/12156 1/8282 0/3874 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.42272470G>A Copied from the Exome Variant Server ATXN7L3_000045 89/12256 1/8318 88/3938 - - - - - - -
?/? c.665+14C>G r.(=) p.(=) g.42272451G>C Copied from the Exome Variant Server ATXN7L3_000044 1/12250 0/8316 1/3934 - - - - - - -
?/? c.665+20A>G r.(=) p.(=) g.42272445T>C Copied from the Exome Variant Server ATXN7L3_000043 1/12240 1/8312 0/3928 - - - - - - -
?/? c.665+26C>T r.(=) p.(=) g.42272439G>A Copied from the Exome Variant Server ATXN7L3_000042 1/12288 0/8324 1/3964 - - - - - - -
?/? c.665+31C>T r.(=) p.(=) g.42272434G>A Copied from the Exome Variant Server ATXN7L3_000041 6/12312 0/8334 6/3978 - - - - - - -
?/? c.665+32G>A r.(=) p.(=) g.42272433C>T Copied from the Exome Variant Server ATXN7L3_000040 1/12322 0/8344 1/3978 - - - - - - -
?/? c.665+42C>T r.(=) p.(=) g.42272423G>A Copied from the Exome Variant Server ATXN7L3_000039 2/12348 2/8366 0/3982 - - - - - - -
?/? c.665+50A>T r.(=) p.(=) g.42272415T>A Copied from the Exome Variant Server ATXN7L3_000038 8/12342 0/8360 8/3982 - - - - - - -
?/? c.665+55C>T r.(=) p.(=) g.42272410G>A Copied from the Exome Variant Server ATXN7L3_000037 1/4566 1/3182 0/1384 - - - - - - -
?/? c.666-51G>A r.(=) p.(=) g.42272258C>T Copied from the Exome Variant Server ATXN7L3_000036 2/12490 0/8394 2/4096 - - - - - - -
?/? c.666-43A>G r.(=) p.(=) g.42272250T>C Copied from the Exome Variant Server ATXN7L3_000035 1/12492 0/8394 1/4098 - - - - - - -
?/? c.666-34C>T r.(=) p.(=) g.42272241G>A Copied from the Exome Variant Server ATXN7L3_000034 83/12522 2/8412 81/4110 - - - - - - -
?/? c.666-31C>T r.(=) p.(=) g.42272238G>A Copied from the Exome Variant Server ATXN7L3_000033 15/12528 0/8418 15/4110 - - - - - - -
?/? c.666-18G>A r.(=) p.(=) g.42272225C>T Copied from the Exome Variant Server ATXN7L3_000032 23/12558 0/8416 23/4142 - - - - - - -
?/? c.708C>T r.(=) p.(=) g.42272165G>A Copied from the Exome Variant Server ATXN7L3_000031 18/12444 1/8382 17/4062 - - - - - - -
?/? c.727G>A r.(?) p.(Gly243Arg) g.42272146C>T Copied from the Exome Variant Server ATXN7L3_000030 1/12300 1/8318 0/3982 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.42272141G>A Copied from the Exome Variant Server ATXN7L3_000029 1/12294 1/8316 0/3978 - - - - - - -
?/? c.737+9C>T r.(=) p.(=) g.42272127G>A Copied from the Exome Variant Server ATXN7L3_000028 1/12258 1/8300 0/3958 - - - - - - -
?/? c.737+14C>T r.(=) p.(=) g.42272122G>A Copied from the Exome Variant Server ATXN7L3_000027 2/12246 0/8288 2/3958 - - - - - - -
?/? c.738-43A>T r.(=) p.(=) g.42272085T>A Copied from the Exome Variant Server ATXN7L3_000026 1/12314 1/8308 0/4006 - - - - - - -
?/? c.738-11C>T r.(=) p.(=) g.42272053G>A Copied from the Exome Variant Server ATXN7L3_000025 2/12290 2/8312 0/3978 - - - - - - -
?/? c.738-3C>T r.spl? p.? g.42272045G>A Copied from the Exome Variant Server ATXN7L3_000024 64/12292 21/8314 43/3978 - - - - - - -
?/? c.738-1G>T r.spl? p.? g.42272043C>A Copied from the Exome Variant Server ATXN7L3_000023 1/12300 0/8318 1/3982 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.42271943G>A Copied from the Exome Variant Server ATXN7L3_000022 1/12162 0/8272 1/3890 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.42271913C>T Copied from the Exome Variant Server ATXN7L3_000021 1/12148 1/8272 0/3876 - - - - - - -
?/? c.895+4C>T r.spl? p.? g.42271881G>A Copied from the Exome Variant Server ATXN7L3_000020 72/12254 69/8322 3/3932 - - - - - - -
?/? c.895+5G>A r.spl? p.? g.42271880C>T Copied from the Exome Variant Server ATXN7L3_000019 11/12254 9/8322 2/3932 - - - - - - -
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