Full data view for gene RAD50

Information The variants shown are described using the NM_005732.3 transcript reference sequence.

204 entries on 3 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.-40G>C r.(=) p.(=) g.131892977G>C Copied from the Exome Variant Server RAD50_000001 4/13006 0/8600 4/4406 - - - - - - -
?/? c.-38G>A N/A N/A g.131892979G>A Copied from the Exome Variant Server RAD50_000002 11949/13006 8580/8600 3369/4406 - - - - - - -
?/? c.3G>A r.? p.? g.131893019G>A Copied from the Exome Variant Server RAD50_000003 2/13006 2/8600 0/4406 - - - - - - -
?/? c.24C>T r.(=) p.(=) g.131893040C>T Copied from the Exome Variant Server RAD50_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.93_94insA r.(?) p.(Thr32Asnfs*16) g.131893109_131893110insA Copied from the Exome Variant Server RAD50_000005 1/12518 1/8254 0/4264 - - - - - - -
?/? c.128C>T r.(?) p.(Thr43Met) g.131893144C>T Copied from the Exome Variant Server RAD50_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.129+23C>T r.(=) p.(=) g.131893168C>T Copied from the Exome Variant Server RAD50_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.130-44G>C r.(=) p.(=) g.131894932G>C Copied from the Exome Variant Server RAD50_000008 1/12884 1/8536 0/4348 - - - - - - -
?/? c.130-29C>T r.(=) p.(=) g.131894947C>T Copied from the Exome Variant Server RAD50_000009 1/12954 1/8558 0/4396 - - - - - - -
?/? c.130-15T>C r.(=) p.(=) g.131894961T>C Copied from the Exome Variant Server RAD50_000010 2/12956 2/8558 0/4398 - - - - - - -
?/? c.130A>T r.(?) p.(Thr44Ser) g.131894976A>T Copied from the Exome Variant Server RAD50_000011 1/12970 1/8566 0/4404 - - - - - - -
?/? c.152A>G r.(?) p.(Tyr51Cys) g.131894998A>G Copied from the Exome Variant Server RAD50_000012 1/12970 0/8568 1/4402 - - - - - - -
?/? c.205G>A r.(?) p.(Asp69Asn) g.131895051G>A Copied from the Exome Variant Server RAD50_000014 1/12988 1/8584 0/4404 - - - - - - -
?/? c.213+6G>C r.(=) p.(=) g.131895065G>C Copied from the Exome Variant Server RAD50_000016 1/12978 1/8572 0/4406 - - - - - - -
?/? c.214-44G>A r.(=) p.(=) g.131911425G>A Copied from the Exome Variant Server RAD50_000018 357/13006 18/8600 339/4406 - - - - - - -
?/? c.214-19T>G r.(=) p.(=) g.131911450T>G Copied from the Exome Variant Server RAD50_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.217G>A r.(?) p.(Ala73Thr) g.131911472G>A Copied from the Exome Variant Server RAD50_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.259C>T r.(?) p.(Arg87Cys) g.131911514C>T Copied from the Exome Variant Server RAD50_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.260G>A r.(?) p.(Arg87His) g.131911515G>A Copied from the Exome Variant Server RAD50_000013 2/13006 0/8600 2/4406 - - - - - - -
?/? c.265G>A r.(?) p.(Val89Ile) g.131911520G>A Copied from the Exome Variant Server RAD50_000015 3/13006 2/8600 1/4406 - - - - - - -
?/? c.280A>C r.(?) p.(Ile94Leu) g.131911535A>C Copied from the Exome Variant Server RAD50_000017 46/13006 40/8600 6/4406 - - - - - - -
?/? c.359G>T r.(?) p.(Arg120Ile) g.131911614G>T Copied from the Exome Variant Server RAD50_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.365+49G>T r.(=) p.(=) g.131911669G>T Copied from the Exome Variant Server RAD50_000021 1/12996 1/8598 0/4398 - - - - - - -
?/? c.379G>A r.(?) p.(Val127Ile) g.131915022G>A Copied from the Exome Variant Server RAD50_000023 23/13006 21/8600 2/4406 - - - - - - -
?/? c.383G>A r.(?) p.(Ser128Asn) g.131915026G>A Copied from the Exome Variant Server RAD50_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.131915054C>T Copied from the Exome Variant Server RAD50_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.426T>C r.(=) p.(=) g.131915069T>C Copied from the Exome Variant Server RAD50_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.459T>C r.(=) p.(=) g.131915102T>C Copied from the Exome Variant Server RAD50_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.463A>G r.(?) p.(Ile155Val) g.131915106A>G Copied from the Exome Variant Server RAD50_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551+19G>A r.(=) p.(=) g.131915213G>A Copied from the Exome Variant Server RAD50_000030 2287/13004 1790/8600 497/4404 - - - - - - -
?/? c.552-43_552-39del r.(=) p.(=) g.131915511_131915515del Copied from the Exome Variant Server RAD50_000031 3/12478 2/8228 1/4250 - - - - - - -
?/? c.558_559insA r.(?) p.(Ala188Serfs*30) g.131915560_131915561insA Copied from the Exome Variant Server RAD50_000032 1/12512 1/8248 0/4264 - - - - - - -
?/? c.572C>T r.(?) p.(Thr191Ile) g.131915574C>T Copied from the Exome Variant Server RAD50_000033 59/13006 11/8600 48/4406 - - - - - - -
?/? c.577C>T r.(?) p.(Arg193Trp) g.131915579C>T Copied from the Exome Variant Server RAD50_000034 1/13004 0/8598 1/4406 - - - - - - -
?/? c.610A>G r.(?) p.(Lys204Glu) g.131915612A>G Copied from the Exome Variant Server RAD50_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.630A>G r.(=) p.(=) g.131915632A>G Copied from the Exome Variant Server RAD50_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.671G>A r.(?) p.(Arg224His) g.131915673G>A Copied from the Exome Variant Server RAD50_000037 8/13006 8/8600 0/4406 - - - - - - -
?/? c.676C>T r.(?) p.(Gln226*) g.131915678C>T Copied from the Exome Variant Server RAD50_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.695C>A r.(?) p.(Ala232Asp) g.131915697C>A Copied from the Exome Variant Server RAD50_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.724A>G r.(?) p.(Lys242Glu) g.131915726A>G Copied from the Exome Variant Server RAD50_000040 1/13002 1/8598 0/4404 - - - - - - -
?/? c.756+6del r.(=) p.(=) g.131915764del Copied from the Exome Variant Server RAD50_000041 36/12500 0/8238 36/4262 - - - - - - -
?/? c.785T>G r.(?) p.(Leu262Arg) g.131923282T>G Copied from the Exome Variant Server RAD50_000042 1/12998 1/8594 0/4404 - - - - - - -
?/? c.871G>A r.(?) p.(Glu291Lys) g.131923368G>A Copied from the Exome Variant Server RAD50_000043 1/13002 0/8596 1/4406 - - - - - - -
?/? c.885+11G>A r.(=) p.(=) g.131923393G>A Copied from the Exome Variant Server RAD50_000044 1/12996 0/8592 1/4404 - - - - - - -
?/? c.885+32A>G r.(=) p.(=) g.131923414A>G Copied from the Exome Variant Server RAD50_000045 1/12984 0/8586 1/4398 - - - - - - -
?/? c.903T>G r.(?) p.(Asp301Glu) g.131923633T>G Copied from the Exome Variant Server RAD50_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.921A>G r.(=) p.(=) g.131923651A>G Copied from the Exome Variant Server RAD50_000047 7/13006 0/8600 7/4406 - - - - - - -
?/? c.943G>T r.(?) p.(Val315Leu) g.131923673G>T Copied from the Exome Variant Server RAD50_000048 26/13006 23/8600 3/4406 - - - - - - -
?/? c.980G>A r.(?) p.(Arg327His) g.131923710G>A Copied from the Exome Variant Server RAD50_000049 31/13004 29/8598 2/4406 - - - - - - -
?/? c.1024G>C r.(?) p.(Glu342Gln) g.131923754G>C Copied from the Exome Variant Server RAD50_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1026A>G r.(=) p.(=) g.131923756A>G Copied from the Exome Variant Server RAD50_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1051+17A>G r.(=) p.(=) g.131923798A>G Copied from the Exome Variant Server RAD50_000052 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1051+32C>G r.(=) p.(=) g.131923813C>G Copied from the Exome Variant Server RAD50_000053 20/13002 0/8596 20/4406 - - - - - - -
?/? c.1052-50C>T r.(=) p.(=) g.131924329C>T Copied from the Exome Variant Server RAD50_000054 14/12562 14/8488 0/4074 - - - - - - -
?/? c.1052-42G>A r.(=) p.(=) g.131924337G>A Copied from the Exome Variant Server RAD50_000055 1/12640 1/8500 0/4140 - - - - - - -
?/? c.1052-38C>T r.(=) p.(=) g.131924341C>T Copied from the Exome Variant Server RAD50_000056 262/12682 223/8526 39/4156 - - - - - - -
?/? c.1052-35T>C r.(=) p.(=) g.131924344T>C Copied from the Exome Variant Server RAD50_000057 1/12734 1/8540 0/4194 - - - - - - -
?/? c.1052-32del r.(=) p.(=) g.131924347del Copied from the Exome Variant Server RAD50_000058 59/12200 42/8186 17/4014 - - - - - - -
?/? c.1052-23T>C r.(=) p.(=) g.131924356T>C Copied from the Exome Variant Server RAD50_000059 18/12826 16/8572 2/4254 - - - - - - -
?/? c.1052-15del r.(=) p.(=) g.131924364del Copied from the Exome Variant Server RAD50_000060 390/12406 262/8230 128/4176 - - - - - - -
?/? c.1062G>C r.(?) p.(Gln354His) g.131924389G>C Copied from the Exome Variant Server RAD50_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1088A>G r.(?) p.(His363Arg) g.131924415A>G Copied from the Exome Variant Server RAD50_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1094G>A r.(?) p.(Arg365Gln) g.131924421G>A Copied from the Exome Variant Server RAD50_000064 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1115A>G r.(?) p.(Gln372Arg) g.131924442A>G Copied from the Exome Variant Server RAD50_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1153C>T r.(?) p.(Arg385Cys) g.131924480C>T Copied from the Exome Variant Server RAD50_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1154G>A r.(?) p.(Arg385His) g.131924481G>A Copied from the Exome Variant Server RAD50_000070 6/13006 1/8600 5/4406 - - - - - - -
?/? c.1218G>A r.(=) p.(=) g.131924545G>A Copied from the Exome Variant Server RAD50_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1237C>T r.(?) p.(Gln413*) g.131924564C>T Copied from the Exome Variant Server RAD50_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1245+23T>C r.(=) p.(=) g.131924595T>C Copied from the Exome Variant Server RAD50_000062 108/13006 3/8600 105/4406 - - - - - - -
?/? c.1245+30T>C r.(=) p.(=) g.131924602T>C Copied from the Exome Variant Server RAD50_000065 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1246-42T>A r.(=) p.(=) g.131925281T>A Copied from the Exome Variant Server RAD50_000067 72/12572 1/8460 71/4112 - - - - - - -
?/? c.1246-31A>G r.(=) p.(=) g.131925292A>G Copied from the Exome Variant Server RAD50_000069 1/12722 0/8512 1/4210 - - - - - - -
?/? c.1246-24C>T r.(=) p.(=) g.131925299C>T Copied from the Exome Variant Server RAD50_000071 3/12806 0/8536 3/4270 - - - - - - -
?/? c.1277A>G r.(?) p.(Gln426Arg) g.131925354A>G Copied from the Exome Variant Server RAD50_000073 4/12998 4/8598 0/4400 - - - - - - -
?/? c.1336A>G r.(?) p.(Lys446Glu) g.131925413A>G Copied from the Exome Variant Server RAD50_000075 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1402G>A r.(?) p.(Glu468Lys) g.131925479G>A Copied from the Exome Variant Server RAD50_000076 5/13004 0/8598 5/4406 - - - - - - -
?/? c.1453-32A>G r.(=) p.(=) g.131926884A>G Copied from the Exome Variant Server RAD50_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1453-31C>T r.(=) p.(=) g.131926885C>T Copied from the Exome Variant Server RAD50_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1453-12A>G r.(=) p.(=) g.131926904A>G Copied from the Exome Variant Server RAD50_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1456C>T r.(?) p.(Arg486Cys) g.131926919C>T Copied from the Exome Variant Server RAD50_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1534G>T r.(?) p.(Ala512Ser) g.131926997G>T Copied from the Exome Variant Server RAD50_000081 16/13006 1/8600 15/4406 - - - - - - -
?/? c.1540T>C r.(=) p.(=) g.131927003T>C Copied from the Exome Variant Server RAD50_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1544A>G r.(?) p.(Asp515Gly) g.131927007A>G Copied from the Exome Variant Server RAD50_000083 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1554G>C r.(=) p.(=) g.131927017G>C Copied from the Exome Variant Server RAD50_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1556G>A r.(?) p.(Arg519His) g.131927019G>A Copied from the Exome Variant Server RAD50_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1602A>G r.(=) p.(=) g.131927065A>G Copied from the Exome Variant Server RAD50_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1604G>A r.(?) p.(Arg535His) g.131927067G>A Copied from the Exome Variant Server RAD50_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1619_1620insGA r.(?) p.(Leu541Serfs*2) g.131927082_131927083insGA Copied from the Exome Variant Server RAD50_000088 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1635+37G>A r.(=) p.(=) g.131927135G>A Copied from the Exome Variant Server RAD50_000089 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1636-18del r.(=) p.(=) g.131927551del Copied from the Exome Variant Server RAD50_000091 391/12216 266/8100 125/4116 - - - - - - -
?/? c.1636-18dup r.(=) p.(=) g.131927551dup Copied from the Exome Variant Server RAD50_000090 179/12216 70/8100 109/4116 - - - - - - -
?/? c.1636-4A>G r.spl? p.? g.131927565A>G Copied from the Exome Variant Server RAD50_000092 1/12980 1/8580 0/4400 - - - - - - -
?/? c.1648_1649insAAC r.(?) p.(Gln551dup) g.131927581_131927582insAAC Copied from the Exome Variant Server RAD50_000093 1/12510 1/8246 0/4264 - - - - - - -
?/? c.1651C>G r.(?) p.(Gln551Glu) g.131927584C>G Copied from the Exome Variant Server RAD50_000094 1/12998 0/8592 1/4406 - - - - - - -
?/? c.1676A>G r.(?) p.(His559Arg) g.131927609A>G Copied from the Exome Variant Server RAD50_000095 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1677C>T r.(=) p.(=) g.131927610C>T Copied from the Exome Variant Server RAD50_000096 3/13002 0/8596 3/4406 - - - - - - -
?/? c.1715A>G r.(?) p.(Asn572Ser) g.131927648A>G Copied from the Exome Variant Server RAD50_000097 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1742A>G r.(?) p.(His581Arg) g.131927675A>G Copied from the Exome Variant Server RAD50_000098 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1759A>C r.(?) p.(Ile587Leu) g.131927692A>C Copied from the Exome Variant Server RAD50_000099 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1793+11A>G r.(=) p.(=) g.131927737A>G Copied from the Exome Variant Server RAD50_000100 1/13006 0/8600 1/4406 - - - - - - -
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