Full data view for gene RNF215

Information The variants shown are described using the NM_001017981.1 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.303C>T r.(=) p.(=) g.30782731G>A Copied from the Exome Variant Server RNF215_000068 2211/13006 1515/8600 696/4406 - - - - - - -
?/? c.312G>A r.(=) p.(=) g.30782722C>T Copied from the Exome Variant Server RNF215_000067 73/13006 0/8600 73/4406 - - - - - - -
?/? c.345C>A r.(?) p.(Tyr115*) g.30782689G>T Copied from the Exome Variant Server RNF215_000066 1/13004 1/8600 0/4404 - - - - - - -
?/? c.358C>T r.(?) p.(Gln120*) g.30782676G>A Copied from the Exome Variant Server RNF215_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.398C>T r.(?) p.(Pro133Leu) g.30782636G>A Copied from the Exome Variant Server RNF215_000064 3/13006 0/8600 3/4406 - - - - - - -
?/? c.429+3G>T r.spl? p.? g.30782602C>A Copied from the Exome Variant Server RNF215_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.429+21G>A r.(=) p.(=) g.30782584C>T Copied from the Exome Variant Server RNF215_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.436C>T r.(?) p.(Arg146Trp) g.30782124G>A Copied from the Exome Variant Server RNF215_000061 1/13002 1/8598 0/4404 - - - - - - -
?/? c.440C>T r.(?) p.(Ala147Val) g.30782120G>A Copied from the Exome Variant Server RNF215_000060 1/13002 0/8596 1/4406 - - - - - - -
?/? c.450G>A r.(=) p.(=) g.30782110C>T Copied from the Exome Variant Server RNF215_000059 7/12992 7/8594 0/4398 - - - - - - -
?/? c.471T>C r.(=) p.(=) g.30782089A>G Copied from the Exome Variant Server RNF215_000058 3978/13004 2543/8600 1435/4404 - - - - - - -
?/? c.497G>A r.(?) p.(Arg166Gln) g.30782063C>T Copied from the Exome Variant Server RNF215_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.501+18G>A r.(=) p.(=) g.30782041C>T Copied from the Exome Variant Server RNF215_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.502-29G>C r.(=) p.(=) g.30782007C>G Copied from the Exome Variant Server RNF215_000055 7/13006 5/8600 2/4406 - - - - - - -
?/? c.502-23C>T r.(=) p.(=) g.30782001G>A Copied from the Exome Variant Server RNF215_000054 5/13006 4/8600 1/4406 - - - - - - -
?/? c.529C>G r.(?) p.(Pro177Ala) g.30781951G>C Copied from the Exome Variant Server RNF215_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.567G>C r.(?) p.(Lys189Asn) g.30781913C>G Copied from the Exome Variant Server RNF215_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.587+45del r.(=) p.(=) g.30781848del Copied from the Exome Variant Server RNF215_000051 2/12518 2/8254 0/4264 - - - - - - -
?/? c.588-51C>T r.(=) p.(=) g.30780535G>A Copied from the Exome Variant Server RNF215_000050 2/13006 0/8600 2/4406 - - - - - - -
?/? c.588-34C>T r.(=) p.(=) g.30780518G>A Copied from the Exome Variant Server RNF215_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.588-19C>T r.(=) p.(=) g.30780503G>A Copied from the Exome Variant Server RNF215_000048 185/13006 164/8600 21/4406 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.30780430G>A Copied from the Exome Variant Server RNF215_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.643G>A r.(?) p.(Glu215Lys) g.30780429C>T Copied from the Exome Variant Server RNF215_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.685G>A r.(?) p.(Asp229Asn) g.30780387C>T Copied from the Exome Variant Server RNF215_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.721G>A r.(?) p.(Gly241Arg) g.30780351C>T Copied from the Exome Variant Server RNF215_000044 23/13006 22/8600 1/4406 - - - - - - -
?/? c.731G>A r.(?) p.(Arg244His) g.30780341C>T Copied from the Exome Variant Server RNF215_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.744+21T>C r.(=) p.(=) g.30780307A>G Copied from the Exome Variant Server RNF215_000042 18/13006 18/8600 0/4406 - - - - - - -
?/? c.744+27C>T r.(=) p.(=) g.30780301G>A Copied from the Exome Variant Server RNF215_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.744+43C>T r.(=) p.(=) g.30780285G>A Copied from the Exome Variant Server RNF215_000040 72/13006 66/8600 6/4406 - - - - - - -
?/? c.745-45G>A r.(=) p.(=) g.30776435C>T Copied from the Exome Variant Server RNF215_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.745-41G>A r.(=) p.(=) g.30776431C>T Copied from the Exome Variant Server RNF215_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.745-29A>G r.(=) p.(=) g.30776419T>C Copied from the Exome Variant Server RNF215_000037 3831/13006 2416/8600 1415/4406 - - - - - - -
?/? c.745-28T>C r.(=) p.(=) g.30776418A>G Copied from the Exome Variant Server RNF215_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.745-14G>A r.(=) p.(=) g.30776404C>T Copied from the Exome Variant Server RNF215_000035 18/13006 17/8600 1/4406 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.30776367G>A Copied from the Exome Variant Server RNF215_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.778C>T r.(=) p.(=) g.30776357G>A Copied from the Exome Variant Server RNF215_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.805C>T r.(?) p.(Leu269Phe) g.30776330G>A Copied from the Exome Variant Server RNF215_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.807C>T r.(=) p.(=) g.30776328G>A Copied from the Exome Variant Server RNF215_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.808G>A r.(?) p.(Val270Met) g.30776327C>T Copied from the Exome Variant Server RNF215_000030 3/13004 1/8600 2/4404 - - - - - - -
?/? c.811G>C r.(?) p.(Val271Leu) g.30776324C>G Copied from the Exome Variant Server RNF215_000029 1/13004 1/8600 0/4404 - - - - - - -
?/? c.824G>A r.(?) p.(Arg275Gln) g.30776311C>T Copied from the Exome Variant Server RNF215_000028 3/12998 3/8594 0/4404 - - - - - - -
?/? c.834G>A r.(=) p.(=) g.30776301C>T Copied from the Exome Variant Server RNF215_000027 3/12996 2/8592 1/4404 - - - - - - -
?/? c.835C>A r.(=) p.(=) g.30776300G>T Copied from the Exome Variant Server RNF215_000026 1/12996 1/8592 0/4404 - - - - - - -
?/? c.864+14C>T r.(=) p.(=) g.30776257G>A Copied from the Exome Variant Server RNF215_000025 1/12982 1/8584 0/4398 - - - - - - -
?/? c.865-29G>A r.(=) p.(=) g.30776223C>T Copied from the Exome Variant Server RNF215_000024 1/12996 1/8590 0/4406 - - - - - - -
?/? c.884G>A r.(?) p.(Arg295His) g.30776175C>T Copied from the Exome Variant Server RNF215_000023 1/12992 1/8588 0/4404 - - - - - - -
?/? c.892C>T r.(?) p.(Arg298Trp) g.30776167G>A Copied from the Exome Variant Server RNF215_000022 1/13004 1/8600 0/4404 - - - - - - -
?/? c.916C>T r.(?) p.(Arg306Trp) g.30776143G>A Copied from the Exome Variant Server RNF215_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.920G>A r.(?) p.(Arg307His) g.30776139C>T Copied from the Exome Variant Server RNF215_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.934A>G r.(?) p.(Arg312Gly) g.30776125T>C Copied from the Exome Variant Server RNF215_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.937G>T r.(?) p.(Ala313Ser) g.30776122C>A Copied from the Exome Variant Server RNF215_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.30776117C>T Copied from the Exome Variant Server RNF215_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.953C>G r.(?) p.(Pro318Arg) g.30776106G>C Copied from the Exome Variant Server RNF215_000016 193/13006 166/8600 27/4406 - - - - - - -
?/? c.956A>G r.(?) p.(Asp319Gly) g.30776103T>C Copied from the Exome Variant Server RNF215_000015 3/13006 3/8600 0/4406 - - - - - - -
?/? c.959C>T r.(?) p.(Pro320Leu) g.30776100G>A Copied from the Exome Variant Server RNF215_000014 2/13006 0/8600 2/4406 - - - - - - -
?/? c.964G>A r.(?) p.(Ala322Thr) g.30776095C>T Copied from the Exome Variant Server RNF215_000013 2568/13006 2198/8600 370/4406 - - - - - - -
?/? c.984C>G r.(?) p.(Cys328Trp) g.30776075G>C Copied from the Exome Variant Server RNF215_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1009-50C>T r.(=) p.(=) g.30775852G>A Copied from the Exome Variant Server RNF215_000011 3/12972 1/8578 2/4394 - - - - - - -
?/? c.1009-34G>A r.(=) p.(=) g.30775836C>T Copied from the Exome Variant Server RNF215_000010 1/12988 1/8594 0/4394 - - - - - - -
?/? c.1018G>T r.(?) p.(Val340Leu) g.30775793C>A Copied from the Exome Variant Server RNF215_000009 4/12962 4/8584 0/4378 - - - - - - -
?/? c.1045C>T r.(?) p.(Arg349*) g.30775766G>A Copied from the Exome Variant Server RNF215_000008 1/12980 0/8586 1/4394 - - - - - - -
?/? c.1082C>T r.(?) p.(Thr361Ile) g.30775729G>A Copied from the Exome Variant Server RNF215_000007 24/12972 22/8574 2/4398 - - - - - - -
?/? c.1086C>T r.(=) p.(=) g.30775725G>A Copied from the Exome Variant Server RNF215_000006 1/12960 1/8562 0/4398 - - - - - - -
?/? c.1111+6C>T r.(=) p.(=) g.30775694G>A Copied from the Exome Variant Server RNF215_000005 175/12892 3/8522 172/4370 - - - - - - -
?/? c.1111+25C>T r.(=) p.(=) g.30775675G>A Copied from the Exome Variant Server RNF215_000004 2718/12802 2089/8466 629/4336 - - - - - - -
?/? c.1112-16_1112-14del r.(=) p.(=) g.30775625_30775627del Copied from the Exome Variant Server RNF215_000003 10/11794 7/7778 3/4016 - - - - - - -
?/? c.1117C>T r.(?) p.(Arg373Cys) g.30775606G>A Copied from the Exome Variant Server RNF215_000002 2/12288 0/8142 2/4146 - - - - - - -
?/? c.*46C>T r.(=) p.(=) g.30775543G>A Copied from the Exome Variant Server RNF215_000001 1/11706 1/7694 0/4012 - - - - - - -
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