Full data view for gene DRAM2

Information The variants shown are described using the NM_178454.4 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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.-14-40_-14-39del r.(=) p.(=) g.111674229_111674230del Copied from the Exome Variant Server DRAM2_000048 1/12520 0/8254 1/4266 - - - - - - -
?/? c.-14-12T>C r.(=) p.(=) g.111674202A>G Copied from the Exome Variant Server DRAM2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-9C>G r.(=) p.(=) g.111674185G>C Copied from the Exome Variant Server DRAM2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-7G>T r.(=) p.(=) g.111674183C>A Copied from the Exome Variant Server DRAM2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.71T>C r.(?) p.(Ile24Thr) g.111674106A>G Copied from the Exome Variant Server DRAM2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.89C>T r.(?) p.(Ala30Val) g.111674088G>A Copied from the Exome Variant Server DRAM2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.92_93insT r.(?) p.(Thr32Asnfs*14) g.111674084_111674085insA Copied from the Exome Variant Server DRAM2_000056 1/12520 1/8254 0/4266 - - - - - - -
?/? c.126T>C r.(=) p.(=) g.111674051A>G Copied from the Exome Variant Server DRAM2_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.131+23A>G r.(=) p.(=) g.111674023T>C Copied from the Exome Variant Server DRAM2_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.132-51A>C r.(=) p.(=) g.111668967T>G Copied from the Exome Variant Server DRAM2_000053 1/12980 0/8580 1/4400 - - - - - - -
?/? c.132-34G>A r.(=) p.(=) g.111668950C>T Copied from the Exome Variant Server DRAM2_000052 2/13000 2/8596 0/4404 - - - - - - -
?/? c.180A>G r.(=) p.(=) g.111668868T>C Copied from the Exome Variant Server DRAM2_000051 1/12994 0/8588 1/4406 - - - - - - -
?/? c.185T>C r.(?) p.(Ile62Thr) g.111668863A>G Copied from the Exome Variant Server DRAM2_000050 1/12998 1/8592 0/4406 - - - - - - -
?/? c.187G>A r.(?) p.(Ala63Thr) g.111668861C>T Copied from the Exome Variant Server DRAM2_000049 1/12998 1/8592 0/4406 - - - - - - -
?/? c.188C>A r.(?) p.(Ala63Glu) g.111668860G>T Copied from the Exome Variant Server DRAM2_000047 1/12998 0/8592 1/4406 - - - - - - -
?/? c.189G>A r.(=) p.(=) g.111668859C>T Copied from the Exome Variant Server DRAM2_000045 2/12998 0/8592 2/4406 - - - - - - -
?/? c.266_268del r.(?) p.(Ile89del) g.111667435_111667437del Copied from the Exome Variant Server DRAM2_000043 3/12520 1/8254 2/4266 - - - - - - -
?/? c.279G>A r.(=) p.(=) g.111667424C>T Copied from the Exome Variant Server DRAM2_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.286C>T r.(?) p.(Leu96Phe) g.111667417G>A Copied from the Exome Variant Server DRAM2_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.306T>C r.(=) p.(=) g.111667397A>G Copied from the Exome Variant Server DRAM2_000037 2/13006 2/8600 0/4406 - - - - - - -
?/? c.318T>C r.(=) p.(=) g.111667385A>G Copied from the Exome Variant Server DRAM2_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.322A>G r.(?) p.(Ile108Val) g.111667381T>C Copied from the Exome Variant Server DRAM2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.337del r.(?) p.(Gln113Argfs*10) g.111667366del Copied from the Exome Variant Server DRAM2_000032 42/12520 31/8254 11/4266 - - - - - - -
?/? c.339+44_339+47del r.(=) p.(=) g.111667317_111667320del Copied from the Exome Variant Server DRAM2_000030 10/12514 3/8252 7/4262 - - - - - - -
?/? c.340-50A>G r.(=) p.(=) g.111663365T>C Copied from the Exome Variant Server DRAM2_000027 2/13004 1/8598 1/4406 - - - - - - -
?/? c.340-25C>T r.(=) p.(=) g.111663340G>A Copied from the Exome Variant Server DRAM2_000025 2/13004 1/8598 1/4406 - - - - - - -
?/? c.340-24G>A r.(=) p.(=) g.111663339C>T Copied from the Exome Variant Server DRAM2_000023 2/13004 1/8598 1/4406 - - - - - - -
?/? c.340-9A>C r.(=) p.(=) g.111663324T>G Copied from the Exome Variant Server DRAM2_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.347C>T r.(?) p.(Thr116Ile) g.111663308G>A Copied from the Exome Variant Server DRAM2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.359C>T r.(?) p.(Ala120Val) g.111663296G>A Copied from the Exome Variant Server DRAM2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.448A>C r.(?) p.(Ile150Leu) g.111663207T>G Copied from the Exome Variant Server DRAM2_000016 1/13004 0/8598 1/4406 - - - - - - -
?/? c.483G>T r.(?) p.(Leu161Phe) g.111663172C>A Copied from the Exome Variant Server DRAM2_000035 2/13004 0/8598 2/4406 - - - - - - -
?/? c.494G>A r.(?) p.(Trp165*) g.111663161C>T Copied from the Exome Variant Server DRAM2_000033 1/13004 1/8598 0/4406 - - - - - - -
?/? c.548G>A r.(?) p.(Gly183Asp) g.111662551C>T Copied from the Exome Variant Server DRAM2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.581A>G r.(?) p.(His194Arg) g.111662518T>C Copied from the Exome Variant Server DRAM2_000029 2/13006 2/8600 0/4406 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.111662505C>T Copied from the Exome Variant Server DRAM2_000028 3/13006 3/8600 0/4406 - - - - - - -
?/? c.600+44G>T r.(=) p.(=) g.111662455C>A Copied from the Exome Variant Server DRAM2_000026 3/13004 0/8598 3/4406 - - - - - - -
?/? c.601-47G>A r.(=) p.(=) g.111661566C>T Copied from the Exome Variant Server DRAM2_000024 1/12994 1/8592 0/4402 - - - - - - -
?/? c.601-21T>G r.(=) p.(=) g.111661540A>C Copied from the Exome Variant Server DRAM2_000021 1/13002 1/8600 0/4402 - - - - - - -
?/? c.601-9A>G r.(=) p.(=) g.111661528T>C Copied from the Exome Variant Server DRAM2_000019 3154/13002 1337/8600 1817/4402 - - - - - - -
?/? c.622A>T r.(?) p.(Thr208Ser) g.111661498T>A Copied from the Exome Variant Server DRAM2_000017 1/13004 1/8600 0/4404 - - - - - - -
?/? c.632C>G r.(?) p.(Ala211Gly) g.111661488G>C Copied from the Exome Variant Server DRAM2_000015 2/13004 2/8600 0/4404 - - - - - - -
?/? c.677A>C r.(?) p.(Tyr226Ser) g.111661443T>G Copied from the Exome Variant Server DRAM2_000014 1/13004 0/8600 1/4404 - - - - - - -
?/? c.677_678insA r.(?) p.(Tyr226*) g.111661442_111661443insT Copied from the Exome Variant Server DRAM2_000013 3/12518 3/8254 0/4264 - - - - - - -
?/? c.678C>A r.(?) p.(Tyr226*) g.111661442G>T Copied from the Exome Variant Server DRAM2_000012 1/13004 1/8600 0/4404 - - - - - - -
?/? c.693+13A>G r.(=) p.(=) g.111661414T>C Copied from the Exome Variant Server DRAM2_000011 3/13002 0/8600 3/4402 - - - - - - -
?/? c.693+14A>G r.(=) p.(=) g.111661413T>C Copied from the Exome Variant Server DRAM2_000010 5889/13002 3265/8600 2624/4402 - - - - - - -
?/? c.693+28C>T r.(=) p.(=) g.111661399G>A Copied from the Exome Variant Server DRAM2_000009 1/12998 1/8600 0/4398 - - - - - - -
?/? c.693+43C>T r.(=) p.(=) g.111661384G>A Copied from the Exome Variant Server DRAM2_000008 1/12992 0/8594 1/4398 - - - - - - -
?/? c.694-4C>A r.spl? p.? g.111660893G>T Copied from the Exome Variant Server DRAM2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.737T>C r.(?) p.(Leu246Pro) g.111660846A>G Copied from the Exome Variant Server DRAM2_000006 5/13006 4/8600 1/4406 - - - - - - -
?/? c.740A>G r.(?) p.(Tyr247Cys) g.111660843T>C Copied from the Exome Variant Server DRAM2_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.778C>T r.(?) p.(Arg260Trp) g.111660805G>A Copied from the Exome Variant Server DRAM2_000004 49/13006 0/8600 49/4406 - - - - - - -
?/? c.*36C>A r.(=) p.(=) g.111660746G>T Copied from the Exome Variant Server DRAM2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*41G>C r.(=) p.(=) g.111660741C>G Copied from the Exome Variant Server DRAM2_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*51A>G r.(=) p.(=) g.111660731T>C Copied from the Exome Variant Server DRAM2_000001 1/13002 0/8596 1/4406 - - - - - - -
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