Full data view for gene RTEL1

Information The variants shown are described using the NM_032957.4 transcript reference sequence.

501 entries on 6 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.-14G>A r.(=) p.(=) g.62290742G>A Copied from the Exome Variant Server RTEL1_000001 4/13006 3/8600 1/4406 - - - - - - -
?/? c.94C>T r.(=) p.(=) g.62290849C>T Copied from the Exome Variant Server RTEL1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.102+30C>T r.(=) p.(=) g.62290887C>T Copied from the Exome Variant Server RTEL1_000003 1/13004 1/8598 0/4406 - - - - - - -
?/? c.103-29C>T r.(=) p.(=) g.62292622C>T Copied from the Exome Variant Server RTEL1_000004 61/13006 55/8600 6/4406 - - - - - - -
?/? c.103-18G>A r.(=) p.(=) g.62292633G>A Copied from the Exome Variant Server RTEL1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103-6G>A r.(=) p.(=) g.62292645G>A Copied from the Exome Variant Server RTEL1_000006 393/13004 7/8598 386/4406 - - - - - - -
?/? c.132G>C r.(=) p.(=) g.62292680G>C Copied from the Exome Variant Server RTEL1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.137C>T r.(?) p.(Thr46Ile) g.62292685C>T Copied from the Exome Variant Server RTEL1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.164C>T r.(?) p.(Thr55Ile) g.62292712C>T Copied from the Exome Variant Server RTEL1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.190C>T r.(?) p.(Arg64*) g.62292738C>T Copied from the Exome Variant Server RTEL1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.191G>A r.(?) p.(Arg64Gln) g.62292739G>A Copied from the Exome Variant Server RTEL1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.220G>A r.(?) p.(Glu74Lys) g.62292768G>A Copied from the Exome Variant Server RTEL1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.228G>T r.(=) p.(=) g.62292776G>T Copied from the Exome Variant Server RTEL1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245C>T r.(?) p.(Pro82Leu) g.62292793C>T Copied from the Exome Variant Server RTEL1_000014 8/13006 8/8600 0/4406 - - - - - - -
?/? c.250C>T r.(?) p.(Arg84Trp) g.62292798C>T Copied from the Exome Variant Server RTEL1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.251G>C r.(?) p.(Arg84Pro) g.62292799G>C Copied from the Exome Variant Server RTEL1_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.280G>A r.(?) p.(Ala94Thr) g.62292828G>A Copied from the Exome Variant Server RTEL1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301+7C>T r.(=) p.(=) g.62292856C>T Copied from the Exome Variant Server RTEL1_000018 27/13000 0/8598 27/4402 - - - - - - -
?/? c.302-54C>T r.(=) p.(=) g.62293149C>T Copied from the Exome Variant Server RTEL1_000019 3/4566 3/3182 0/1384 - - - - - - -
?/? c.302-13_302-12del r.(=) p.(=) g.62293190_62293191del Copied from the Exome Variant Server RTEL1_000020 49/12518 29/8254 20/4264 - - - - - - -
?/? c.311C>T r.(?) p.(Thr104Met) g.62293212C>T Copied from the Exome Variant Server RTEL1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334G>A r.(?) p.(Ala112Thr) g.62293235G>A Copied from the Exome Variant Server RTEL1_000022 3/13006 2/8600 1/4406 - - - - - - -
?/? c.350C>T r.(?) p.(Ser117Leu) g.62293251C>T Copied from the Exome Variant Server RTEL1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.371A>G r.(?) p.(Asn124Ser) g.62293272A>G Copied from the Exome Variant Server RTEL1_000024 789/13006 712/8600 77/4406 - - - - - - -
?/? c.372C>T r.(=) p.(=) g.62293273C>T Copied from the Exome Variant Server RTEL1_000025 4/13006 1/8600 3/4406 - - - - - - -
?/? c.384C>T r.(=) p.(=) g.62293285C>T Copied from the Exome Variant Server RTEL1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.395+12G>A r.(=) p.(=) g.62293308G>A Copied from the Exome Variant Server RTEL1_000027 13/13006 11/8600 2/4406 - - - - - - -
?/? c.395+35C>T r.(=) p.(=) g.62293331C>T Copied from the Exome Variant Server RTEL1_000028 4/13006 3/8600 1/4406 - - - - - - -
?/? c.395+45C>T r.(=) p.(=) g.62293341C>T Copied from the Exome Variant Server RTEL1_000029 2/13004 2/8600 0/4404 - - - - - - -
?/? c.429G>A r.(=) p.(=) g.62293860G>A Copied from the Exome Variant Server RTEL1_000030 2/13000 2/8598 0/4402 - - - - - - -
?/? c.431C>T r.(?) p.(Thr144Ile) g.62293862C>T Copied from the Exome Variant Server RTEL1_000031 48/13000 43/8598 5/4402 - - - - - - -
?/? c.450G>A r.(=) p.(=) g.62293881G>A Copied from the Exome Variant Server RTEL1_000032 5/13006 0/8600 5/4406 - - - - - - -
?/? c.460C>A r.(?) p.(Pro154Thr) g.62293891C>A Copied from the Exome Variant Server RTEL1_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.512A>G r.(?) p.(His171Arg) g.62293943A>G Copied from the Exome Variant Server RTEL1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528A>G r.(=) p.(=) g.62293959A>G Copied from the Exome Variant Server RTEL1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.549+18C>T r.(=) p.(=) g.62293998C>T Copied from the Exome Variant Server RTEL1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.549+19G>A r.(=) p.(=) g.62293999G>A Copied from the Exome Variant Server RTEL1_000037 393/13004 7/8600 386/4404 - - - - - - -
?/? c.549+24G>A r.(=) p.(=) g.62294004G>A Copied from the Exome Variant Server RTEL1_000038 1/13004 1/8600 0/4404 - - - - - - -
?/? c.549+34C>A r.(=) p.(=) g.62294014C>A Copied from the Exome Variant Server RTEL1_000039 1/13002 0/8598 1/4404 - - - - - - -
?/? c.549+35C>T r.(=) p.(=) g.62294015C>T Copied from the Exome Variant Server RTEL1_000040 5961/13002 4251/8598 1710/4404 - - - - - - -
?/? c.549+42C>T r.(=) p.(=) g.62294022C>T Copied from the Exome Variant Server RTEL1_000041 1/13002 1/8598 0/4404 - - - - - - -
?/? c.549+43G>A r.(=) p.(=) g.62294023G>A Copied from the Exome Variant Server RTEL1_000042 328/13002 1/8598 327/4404 - - - - - - -
?/? c.550-64G>A r.(=) p.(=) g.62294118G>A Copied from the Exome Variant Server RTEL1_000043 2/4566 2/3182 0/1384 - - - - - - -
?/? c.550-52C>T r.(=) p.(=) g.62294130C>T Copied from the Exome Variant Server RTEL1_000044 118/10300 1/7164 117/3136 - - - - - - -
?/? c.550-37C>T r.(=) p.(=) g.62294145C>T Copied from the Exome Variant Server RTEL1_000045 2/13006 2/8600 0/4406 - - - - - - -
?/? c.550-24C>T r.(=) p.(=) g.62294158C>T Copied from the Exome Variant Server RTEL1_000046 357/13006 319/8600 38/4406 - - - - - - -
?/? c.561C>T r.(=) p.(=) g.62294193C>T Copied from the Exome Variant Server RTEL1_000047 6/13006 6/8600 0/4406 - - - - - - -
?/? c.563G>A r.(?) p.(Arg188His) g.62294195G>A Copied from the Exome Variant Server RTEL1_000048 2/13006 2/8600 0/4406 - - - - - - -
?/? c.610+3A>G r.spl? p.? g.62294245A>G Copied from the Exome Variant Server RTEL1_000049 2/13006 1/8600 1/4406 - - - - - - -
?/? c.610+28C>T r.(=) p.(=) g.62294270C>T Copied from the Exome Variant Server RTEL1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.610+32T>C r.(=) p.(=) g.62294274T>C Copied from the Exome Variant Server RTEL1_000051 7/13006 6/8600 1/4406 - - - - - - -
?/? c.610+41G>T r.(=) p.(=) g.62294283G>T Copied from the Exome Variant Server RTEL1_000052 40/13006 36/8600 4/4406 - - - - - - -
?/? c.618C>T r.(=) p.(=) g.62297364C>T Copied from the Exome Variant Server RTEL1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.654T>C r.(=) p.(=) g.62297400T>C Copied from the Exome Variant Server RTEL1_000054 1212/13006 715/8600 497/4406 - - - - - - -
?/? c.684C>T r.(=) p.(=) g.62297430C>T Copied from the Exome Variant Server RTEL1_000056 4/13006 4/8600 0/4406 - - - - - - -
?/? c.686+6_686+7insC r.(=) p.(=) g.62297438_62297439insC Copied from the Exome Variant Server RTEL1_000058 1/12518 0/8254 1/4264 - - - - - - -
?/? c.686+24G>A r.(=) p.(=) g.62297456G>A Copied from the Exome Variant Server RTEL1_000060 2/13006 0/8600 2/4406 - - - - - - -
?/? c.687-56G>A r.(=) p.(=) g.62298766G>A Copied from the Exome Variant Server RTEL1_000062 5/4566 5/3182 0/1384 - - - - - - -
?/? c.687-49C>T r.(=) p.(=) g.62298773C>T Copied from the Exome Variant Server RTEL1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.687-48G>A r.(=) p.(=) g.62298774G>A Copied from the Exome Variant Server RTEL1_000055 7/13006 7/8600 0/4406 - - - - - - -
?/? c.687-45C>G r.(=) p.(=) g.62298777C>G Copied from the Exome Variant Server RTEL1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.687-39A>T r.(=) p.(=) g.62298783A>T Copied from the Exome Variant Server RTEL1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.687-36G>A r.(=) p.(=) g.62298786G>A Copied from the Exome Variant Server RTEL1_000061 723/13006 8/8600 715/4406 - - - - - - -
?/? c.687-18_687-16del r.(=) p.(=) g.62298804_62298806del Copied from the Exome Variant Server RTEL1_000063 75/12518 56/8254 19/4264 - - - - - - -
?/? c.704T>A r.(?) p.(Leu235Gln) g.62298839T>A Copied from the Exome Variant Server RTEL1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.62298864C>T Copied from the Exome Variant Server RTEL1_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.738A>G r.(?) p.(Ile246Met) g.62298873A>G Copied from the Exome Variant Server RTEL1_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.771+36G>A r.(=) p.(=) g.62298942G>A Copied from the Exome Variant Server RTEL1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.772-22G>A r.(=) p.(=) g.62303887G>A Copied from the Exome Variant Server RTEL1_000069 2/12990 1/8586 1/4404 - - - - - - -
?/? c.786C>T r.(=) p.(=) g.62303923C>T Copied from the Exome Variant Server RTEL1_000070 1/13004 1/8598 0/4406 - - - - - - -
?/? c.788A>G r.(?) p.(Asn263Ser) g.62303925A>G Copied from the Exome Variant Server RTEL1_000071 1/13004 0/8598 1/4406 - - - - - - -
?/? c.790A>G r.(?) p.(Ile264Val) g.62303927A>G Copied from the Exome Variant Server RTEL1_000072 3/13004 2/8598 1/4406 - - - - - - -
?/? c.834C>T r.(=) p.(=) g.62303971C>T Copied from the Exome Variant Server RTEL1_000073 14/13004 0/8600 14/4404 - - - - - - -
?/? c.838-50C>T r.(=) p.(=) g.62305243C>T Copied from the Exome Variant Server RTEL1_000074 1/13002 1/8596 0/4406 - - - - - - -
?/? c.838-19G>A r.(=) p.(=) g.62305274G>A Copied from the Exome Variant Server RTEL1_000075 3260/13006 1717/8600 1543/4406 - - - - - - -
?/? c.858G>A r.(=) p.(=) g.62305313G>A Copied from the Exome Variant Server RTEL1_000076 731/13006 9/8600 722/4406 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.62305325C>T Copied from the Exome Variant Server RTEL1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.951T>C r.(=) p.(=) g.62305406T>C Copied from the Exome Variant Server RTEL1_000078 823/13006 9/8600 814/4406 - - - - - - -
?/? c.965A>T r.(?) p.(Glu322Val) g.62305420A>T Copied from the Exome Variant Server RTEL1_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972C>G r.(?) p.(Ser324Arg) g.62305427C>G Copied from the Exome Variant Server RTEL1_000080 7/13006 0/8600 7/4406 - - - - - - -
?/? c.974C>T r.(?) p.(Ala325Val) g.62305429C>T Copied from the Exome Variant Server RTEL1_000081 2/13006 2/8600 0/4406 - - - - - - -
?/? c.975G>A r.(=) p.(=) g.62305430G>A Copied from the Exome Variant Server RTEL1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.991+9A>G r.(=) p.(=) g.62305455A>G Copied from the Exome Variant Server RTEL1_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.991+39G>A r.(=) p.(=) g.62305485G>A Copied from the Exome Variant Server RTEL1_000084 1/13004 1/8598 0/4406 - - - - - - -
?/? c.992-80C>T r.(=) p.(=) g.62309418C>T Copied from the Exome Variant Server RTEL1_000085 1/4566 1/3182 0/1384 - - - - - - -
?/? c.992-57C>A r.(=) p.(=) g.62309441C>A Copied from the Exome Variant Server RTEL1_000086 2/4566 2/3182 0/1384 - - - - - - -
?/? c.992-53_992-51del r.(=) p.(=) g.62309445_62309447del Copied from the Exome Variant Server RTEL1_000087 5/12516 3/8252 2/4264 - - - - - - -
?/? c.992-42G>A r.(=) p.(=) g.62309456G>A Copied from the Exome Variant Server RTEL1_000088 2/13006 0/8600 2/4406 - - - - - - -
?/? c.992-28C>G r.(=) p.(=) g.62309470C>G Copied from the Exome Variant Server RTEL1_000089 11/13006 1/8600 10/4406 - - - - - - -
?/? c.1006C>G r.(?) p.(Leu336Val) g.62309512C>G Copied from the Exome Variant Server RTEL1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.62309514G>A Copied from the Exome Variant Server RTEL1_000091 137/13006 124/8600 13/4406 - - - - - - -
?/? c.1030+3A>G r.spl? p.? g.62309539A>G Copied from the Exome Variant Server RTEL1_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1030+18C>T r.(=) p.(=) g.62309554C>T Copied from the Exome Variant Server RTEL1_000093 9033/13006 5905/8600 3128/4406 - - - - - - -
?/? c.1030+20C>T r.(=) p.(=) g.62309556C>T Copied from the Exome Variant Server RTEL1_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1031-42T>G r.(=) p.(=) g.62309579T>G Copied from the Exome Variant Server RTEL1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1031-32G>A r.(=) p.(=) g.62309589G>A Copied from the Exome Variant Server RTEL1_000096 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1031-17A>G r.(=) p.(=) g.62309604A>G Copied from the Exome Variant Server RTEL1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1031-10C>T r.(=) p.(=) g.62309611C>T Copied from the Exome Variant Server RTEL1_000098 7/13006 6/8600 1/4406 - - - - - - -
?/? c.1031-9G>A r.(=) p.(=) g.62309612G>A Copied from the Exome Variant Server RTEL1_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1031T>C r.(?) p.(Met344Thr) g.62309621T>C Copied from the Exome Variant Server RTEL1_000100 11/13006 9/8600 2/4406 - - - - - - -
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