Full data view for gene DIS3L2

Information The variants shown are described using the NM_152383.4 transcript reference sequence.

181 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.-68C>A r.(=) p.(=) g.232879570C>A Copied from the Exome Variant Server DIS3L2_000001 3/4566 0/3182 3/1384 - - - - - - -
?/? c.-5C>T r.(=) p.(=) g.232879633C>T Copied from the Exome Variant Server DIS3L2_000002 1/11972 1/8220 0/3752 - - - - - - -
?/? c.8A>G r.(?) p.(His3Arg) g.232879645A>G Copied from the Exome Variant Server DIS3L2_000003 1/11938 1/8212 0/3726 - - - - - - -
?/? c.34C>T r.(?) p.(Pro12Ser) g.232879671C>T Copied from the Exome Variant Server DIS3L2_000004 963/11862 237/8184 726/3678 - - - - - - -
?/? c.52+25C>T r.(=) p.(=) g.232879714C>T Copied from the Exome Variant Server DIS3L2_000005 1/11960 1/8218 0/3742 - - - - - - -
?/? c.52+47A>T r.(=) p.(=) g.232879736A>T Copied from the Exome Variant Server DIS3L2_000006 27/11996 27/8232 0/3764 - - - - - - -
?/? c.53-36T>C r.(=) p.(=) g.232880188T>C Copied from the Exome Variant Server DIS3L2_000007 1/12034 0/8210 1/3824 - - - - - - -
?/? c.53-19T>C r.(=) p.(=) g.232880205T>C Copied from the Exome Variant Server DIS3L2_000008 2/12152 0/8260 2/3892 - - - - - - -
?/? c.56T>G r.(?) p.(Val19Gly) g.232880227T>G Copied from the Exome Variant Server DIS3L2_000009 1/12188 1/8286 0/3902 - - - - - - -
?/? c.58T>C r.(?) p.(Ser20Pro) g.232880229T>C Copied from the Exome Variant Server DIS3L2_000010 1/12194 0/8292 1/3902 - - - - - - -
?/? c.86G>A r.(?) p.(Gly29Asp) g.232880257G>A Copied from the Exome Variant Server DIS3L2_000011 4/12238 0/8302 4/3936 - - - - - - -
?/? c.108G>A r.(=) p.(=) g.232880279G>A Copied from the Exome Variant Server DIS3L2_000012 1/12226 1/8324 0/3902 - - - - - - -
?/? c.209A>G r.(?) p.(Gln70Arg) g.232880380A>G Copied from the Exome Variant Server DIS3L2_000013 1/11948 1/8216 0/3732 - - - - - - -
?/? c.210+10A>G r.(=) p.(=) g.232880391A>G Copied from the Exome Variant Server DIS3L2_000014 1/11932 1/8216 0/3716 - - - - - - -
?/? c.211-59C>T r.(=) p.(=) g.232888928C>T Copied from the Exome Variant Server DIS3L2_000015 10/4544 10/3160 0/1384 - - - - - - -
?/? c.211-48C>T r.(=) p.(=) g.232888939C>T Copied from the Exome Variant Server DIS3L2_000016 9/11648 8/8088 1/3560 - - - - - - -
?/? c.211-39A>G r.(=) p.(=) g.232888948A>G Copied from the Exome Variant Server DIS3L2_000017 2/11660 0/8090 2/3570 - - - - - - -
?/? c.211-9del r.(=) p.(=) g.232888978del Copied from the Exome Variant Server DIS3L2_000018 3/11222 2/7762 1/3460 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.232889013G>A Copied from the Exome Variant Server DIS3L2_000019 1/11676 1/8102 0/3574 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.232889037C>T Copied from the Exome Variant Server DIS3L2_000020 1/11664 0/8090 1/3574 - - - - - - -
?/? c.263C>T r.(?) p.(Pro88Leu) g.232889039C>T Copied from the Exome Variant Server DIS3L2_000021 12/11662 8/8090 4/3572 - - - - - - -
?/? c.264+20A>G r.(=) p.(=) g.232889060A>G Copied from the Exome Variant Server DIS3L2_000022 2/11648 2/8080 0/3568 - - - - - - -
?/? c.264+31T>A r.(=) p.(=) g.232889071T>A Copied from the Exome Variant Server DIS3L2_000023 1/11650 0/8082 1/3568 - - - - - - -
?/? c.265-45T>C r.(=) p.(=) g.232894644T>C Copied from the Exome Variant Server DIS3L2_000024 2/11804 1/8154 1/3650 - - - - - - -
?/? c.265-15C>A r.(=) p.(=) g.232894674C>A Copied from the Exome Variant Server DIS3L2_000025 133/11820 2/8164 131/3656 - - - - - - -
?/? c.301G>T r.(?) p.(Ala101Ser) g.232894725G>T Copied from the Exome Variant Server DIS3L2_000026 5/11886 5/8192 0/3694 - - - - - - -
?/? c.305G>C r.(?) p.(Arg102Pro) g.232894729G>C Copied from the Exome Variant Server DIS3L2_000027 1/11894 1/8198 0/3696 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.232894775C>T Copied from the Exome Variant Server DIS3L2_000028 1/11916 0/8194 1/3722 - - - - - - -
?/? c.367-28T>C r.(=) p.(=) g.232952169T>C Copied from the Exome Variant Server DIS3L2_000029 1/11790 0/8168 1/3622 - - - - - - -
?/? c.383G>A r.(?) p.(Ser128Asn) g.232952213G>A Copied from the Exome Variant Server DIS3L2_000031 1/11954 0/8230 1/3724 - - - - - - -
?/? c.410A>G r.(?) p.(Tyr137Cys) g.232952240A>G Copied from the Exome Variant Server DIS3L2_000033 13/12078 13/8268 0/3810 - - - - - - -
?/? c.419A>G r.(?) p.(Asp140Gly) g.232952249A>G Copied from the Exome Variant Server DIS3L2_000035 1/12118 0/8284 1/3834 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.232952256C>T Copied from the Exome Variant Server DIS3L2_000037 137/12140 124/8294 13/3846 - - - - - - -
?/? c.456A>G r.(=) p.(=) g.232952286A>G Copied from the Exome Variant Server DIS3L2_000039 1288/12298 584/8342 704/3956 - - - - - - -
?/? c.540C>T r.(=) p.(=) g.232952370C>T Copied from the Exome Variant Server DIS3L2_000040 1/12458 1/8392 0/4066 - - - - - - -
?/? c.601+22_601+24del r.(=) p.(=) g.232952453_232952455del Copied from the Exome Variant Server DIS3L2_000042 4/11568 4/7916 0/3652 - - - - - - -
?/? c.602-30T>G r.(=) p.(=) g.232995299T>G Copied from the Exome Variant Server DIS3L2_000030 1/11884 0/8180 1/3704 - - - - - - -
?/? c.602-16T>C r.(=) p.(=) g.232995313T>C Copied from the Exome Variant Server DIS3L2_000032 1/11876 1/8178 0/3698 - - - - - - -
?/? c.662C>G r.(?) p.(Thr221Arg) g.232995389C>G Copied from the Exome Variant Server DIS3L2_000034 6/12036 0/8238 6/3798 - - - - - - -
?/? c.685C>G r.(?) p.(Leu229Val) g.232995412C>G Copied from the Exome Variant Server DIS3L2_000036 1/12012 1/8230 0/3782 - - - - - - -
?/? c.702+4A>G r.spl? p.? g.232995433A>G Copied from the Exome Variant Server DIS3L2_000038 4/11982 0/8212 4/3770 - - - - - - -
?/? c.702+10T>G r.(=) p.(=) g.232995439T>G Copied from the Exome Variant Server DIS3L2_000041 28/11962 26/8202 2/3760 - - - - - - -
?/? c.702+33A>G r.(=) p.(=) g.232995462A>G Copied from the Exome Variant Server DIS3L2_000043 184/11962 1/8214 183/3748 - - - - - - -
?/? c.702+39T>G r.(=) p.(=) g.232995468T>G Copied from the Exome Variant Server DIS3L2_000044 28/11956 28/8206 0/3750 - - - - - - -
?/? c.702+45C>G r.(=) p.(=) g.232995474C>G Copied from the Exome Variant Server DIS3L2_000045 36/11940 0/8196 36/3744 - - - - - - -
?/? c.703-25T>C r.(=) p.(=) g.233001157T>C Copied from the Exome Variant Server DIS3L2_000046 8/11874 7/8192 1/3682 - - - - - - -
?/? c.729T>C r.(=) p.(=) g.233001208T>C Copied from the Exome Variant Server DIS3L2_000047 1/11886 0/8186 1/3700 - - - - - - -
?/? c.777C>G r.(?) p.(Ser259Arg) g.233001256C>G Copied from the Exome Variant Server DIS3L2_000048 1/11958 1/8222 0/3736 - - - - - - -
?/? c.783G>A r.(=) p.(=) g.233001262G>A Copied from the Exome Variant Server DIS3L2_000049 6/11998 0/8236 6/3762 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.233001274C>T Copied from the Exome Variant Server DIS3L2_000050 8/12024 8/8248 0/3776 - - - - - - -
?/? c.849G>A r.(=) p.(=) g.233001328G>A Copied from the Exome Variant Server DIS3L2_000051 1/12112 1/8278 0/3834 - - - - - - -
?/? c.874C>A r.(=) p.(=) g.233001353C>A Copied from the Exome Variant Server DIS3L2_000052 14/12162 0/8292 14/3870 - - - - - - -
?/? c.878C>A r.(?) p.(Pro293His) g.233001357C>A Copied from the Exome Variant Server DIS3L2_000053 15/12176 0/8292 15/3884 - - - - - - -
?/? c.950+28C>T r.(=) p.(=) g.233001457C>T Copied from the Exome Variant Server DIS3L2_000054 6/12000 0/8226 6/3774 - - - - - - -
?/? c.951-20C>T r.(=) p.(=) g.233028149C>T Copied from the Exome Variant Server DIS3L2_000055 3/11892 3/8182 0/3710 - - - - - - -
?/? c.958G>T r.(?) p.(Ala320Ser) g.233028176G>T Copied from the Exome Variant Server DIS3L2_000056 1/11892 1/8194 0/3698 - - - - - - -
?/? c.961A>G r.(?) p.(Lys321Glu) g.233028179A>G Copied from the Exome Variant Server DIS3L2_000057 1/11892 0/8192 1/3700 - - - - - - -
?/? c.963G>A r.(=) p.(=) g.233028181G>A Copied from the Exome Variant Server DIS3L2_000058 2/11898 2/8194 0/3704 - - - - - - -
?/? c.981T>C r.(=) p.(=) g.233028199T>C Copied from the Exome Variant Server DIS3L2_000059 1/11964 0/8218 1/3746 - - - - - - -
?/? c.1019A>G r.(?) p.(Tyr340Cys) g.233028237A>G Copied from the Exome Variant Server DIS3L2_000060 6/11980 4/8228 2/3752 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.233028241C>T Copied from the Exome Variant Server DIS3L2_000061 2/11988 2/8232 0/3756 - - - - - - -
?/? c.1033T>C r.(?) p.(Ser345Pro) g.233028251T>C Copied from the Exome Variant Server DIS3L2_000062 1/11982 0/8222 1/3760 - - - - - - -
?/? c.1124+9033A>G r.(=) p.(=) g.233037375A>G Copied from the Exome Variant Server DIS3L2_000063 1/10300 1/7164 0/3136 - - - - - - -
?/? c.1124+9041T>C r.(=) p.(=) g.233037383T>C Copied from the Exome Variant Server DIS3L2_000064 1/10300 0/7164 1/3136 - - - - - - -
?/? c.1124+9088_1124+9105del r.(=) p.(=) g.233037430_233037447del Copied from the Exome Variant Server DIS3L2_000065 142/11468 125/7492 17/3976 - - - - - - -
?/? c.1125-45G>T r.(=) p.(=) g.233074991G>T Copied from the Exome Variant Server DIS3L2_000066 2/12070 0/8250 2/3820 - - - - - - -
?/? c.1125-20_1125-19insT r.(=) p.(=) g.233075016_233075017insT Copied from the Exome Variant Server DIS3L2_000067 1/11668 1/7928 0/3740 - - - - - - -
?/? c.1170C>T r.(=) p.(=) g.233075081C>T Copied from the Exome Variant Server DIS3L2_000068 304/12500 276/8416 28/4084 - - - - - - -
?/? c.1203C>T r.(=) p.(=) g.233075114C>T Copied from the Exome Variant Server DIS3L2_000069 1/12630 1/8470 0/4160 - - - - - - -
?/? c.1204G>A r.(?) p.(Gly402Ser) g.233075115G>A Copied from the Exome Variant Server DIS3L2_000070 1/12624 1/8468 0/4156 - - - - - - -
?/? c.1204+12A>G r.(=) p.(=) g.233075127A>G Copied from the Exome Variant Server DIS3L2_000071 1/12620 0/8460 1/4160 - - - - - - -
?/? c.1204+26T>C r.(=) p.(=) g.233075141T>C Copied from the Exome Variant Server DIS3L2_000072 2/12654 2/8476 0/4178 - - - - - - -
?/? c.1204+52G>C r.(=) p.(=) g.233075167G>C Copied from the Exome Variant Server DIS3L2_000073 6/6894 0/4466 6/2428 - - - - - - -
?/? c.1205-33G>A r.(=) p.(=) g.233103210G>A Copied from the Exome Variant Server DIS3L2_000074 1/12326 1/8336 0/3990 - - - - - - -
?/? c.1205-18_1205-16del r.(=) p.(=) g.233103225_233103227del Copied from the Exome Variant Server DIS3L2_000075 13/11764 8/7970 5/3794 - - - - - - -
?/? c.1205-13C>T r.(=) p.(=) g.233103230C>T Copied from the Exome Variant Server DIS3L2_000076 5/12250 4/8320 1/3930 - - - - - - -
?/? c.1224T>A r.(=) p.(=) g.233103262T>A Copied from the Exome Variant Server DIS3L2_000077 1/12248 1/8320 0/3928 - - - - - - -
?/? c.1308G>A r.(=) p.(=) g.233103346G>A Copied from the Exome Variant Server DIS3L2_000079 1/11902 0/8206 1/3696 - - - - - - -
?/? c.1318-26C>T r.(=) p.(=) g.233113923C>T Copied from the Exome Variant Server DIS3L2_000081 10/12668 0/8472 10/4196 - - - - - - -
?/? c.1318-5T>G r.spl? p.? g.233113944T>G Copied from the Exome Variant Server DIS3L2_000083 1/12808 1/8514 0/4294 - - - - - - -
?/? c.1337G>T r.(?) p.(Arg446Met) g.233113968G>T Copied from the Exome Variant Server DIS3L2_000085 2/12920 2/8550 0/4370 - - - - - - -
?/? c.1365C>T r.(=) p.(=) g.233113996C>T Copied from the Exome Variant Server DIS3L2_000087 1/12968 1/8578 0/4390 - - - - - - -
?/? c.1377C>T r.(=) p.(=) g.233114008C>T Copied from the Exome Variant Server DIS3L2_000089 1/12970 0/8582 1/4388 - - - - - - -
?/? c.1406C>T r.(?) p.(Thr469Ile) g.233114037C>T Copied from the Exome Variant Server DIS3L2_000091 1/12982 0/8586 1/4396 - - - - - - -
?/? c.1425+7A>G r.(=) p.(=) g.233114063A>G Copied from the Exome Variant Server DIS3L2_000093 1/12960 0/8572 1/4388 - - - - - - -
?/? c.1425+12C>A r.(=) p.(=) g.233114068C>A Copied from the Exome Variant Server DIS3L2_000095 1/12958 0/8570 1/4388 - - - - - - -
?/? c.1425+48A>G r.(=) p.(=) g.233114104A>G Copied from the Exome Variant Server DIS3L2_000078 1/12858 0/8530 1/4328 - - - - - - -
?/? c.1426-32A>G r.(=) p.(=) g.233127885A>G Copied from the Exome Variant Server DIS3L2_000080 1/12076 1/8262 0/3814 - - - - - - -
?/? c.1447C>G r.(?) p.(Arg483Gly) g.233127938C>G Copied from the Exome Variant Server DIS3L2_000082 13/12156 13/8304 0/3852 - - - - - - -
?/? c.1448G>A r.(?) p.(Arg483Gln) g.233127939G>A Copied from the Exome Variant Server DIS3L2_000084 22/12194 18/8320 4/3874 - - - - - - -
?/? c.1459C>T r.(?) p.(Arg487Cys) g.233127950C>T Copied from the Exome Variant Server DIS3L2_000086 1/12220 1/8316 0/3904 - - - - - - -
?/? c.1483G>A r.(?) p.(Glu495Lys) g.233127974G>A Copied from the Exome Variant Server DIS3L2_000088 1/12252 1/8308 0/3944 - - - - - - -
?/? c.1488T>C r.(=) p.(=) g.233127979T>C Copied from the Exome Variant Server DIS3L2_000090 154/12260 141/8310 13/3950 - - - - - - -
?/? c.1529C>T r.(?) p.(Ala510Val) g.233128020C>T Copied from the Exome Variant Server DIS3L2_000092 1/12244 0/8310 1/3934 - - - - - - -
?/? c.1530G>A r.(=) p.(=) g.233128021G>A Copied from the Exome Variant Server DIS3L2_000094 1/12256 1/8316 0/3940 - - - - - - -
?/? c.1564A>G r.(?) p.(Ser522Gly) g.233128055A>G Copied from the Exome Variant Server DIS3L2_000096 2/12372 2/8372 0/4000 - - - - - - -
?/? c.1566C>T r.(=) p.(=) g.233128057C>T Copied from the Exome Variant Server DIS3L2_000097 1/12376 1/8374 0/4002 - - - - - - -
?/? c.1570G>A r.(?) p.(Glu524Lys) g.233128061G>A Copied from the Exome Variant Server DIS3L2_000098 22/12426 0/8390 22/4036 - - - - - - -
?/? c.1597C>A r.(?) p.(His533Asn) g.233128088C>A Copied from the Exome Variant Server DIS3L2_000099 2/12508 0/8420 2/4088 - - - - - - -
?/? c.1600G>A r.(?) p.(Gly534Arg) g.233128091G>A Copied from the Exome Variant Server DIS3L2_000100 1/12514 1/8424 0/4090 - - - - - - -
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