Full data view for gene DHRS2

Information The variants shown are described using the NM_182908.4 transcript reference sequence.

127 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.-38-13del r.(=) p.(=) g.24108023del Copied from the Exome Variant Server DHRS2_000001 5/12518 3/8254 2/4264 - - - - - - -
?/? c.-35T>C r.(=) p.(=) g.24108039T>C Copied from the Exome Variant Server DHRS2_000002 14/13006 0/8600 14/4406 - - - - - - -
?/? c.-3A>C r.(=) p.(=) g.24108071A>C Copied from the Exome Variant Server DHRS2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.10G>A r.(?) p.(Ala4Thr) g.24108083G>A Copied from the Exome Variant Server DHRS2_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.17C>T r.(?) p.(Ala6Val) g.24108090C>T Copied from the Exome Variant Server DHRS2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.19C>T r.(?) p.(Arg7Trp) g.24108092C>T Copied from the Exome Variant Server DHRS2_000006 15/13006 0/8600 15/4406 - - - - - - -
?/? c.20G>A r.(?) p.(Arg7Gln) g.24108093G>A Copied from the Exome Variant Server DHRS2_000007 6/13006 0/8600 6/4406 - - - - - - -
?/? c.74G>A r.(?) p.(Ser25Asn) g.24108147G>A Copied from the Exome Variant Server DHRS2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.78C>A r.(=) p.(=) g.24108151C>A Copied from the Exome Variant Server DHRS2_000009 57/13006 1/8600 56/4406 - - - - - - -
?/? c.88A>G r.(?) p.(Arg30Gly) g.24108161A>G Copied from the Exome Variant Server DHRS2_000010 58/13006 1/8600 57/4406 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.24108166G>A Copied from the Exome Variant Server DHRS2_000011 3/13006 0/8600 3/4406 - - - - - - -
?/? c.96C>T r.(=) p.(=) g.24108169C>T Copied from the Exome Variant Server DHRS2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.99C>A r.(=) p.(=) g.24108172C>A Copied from the Exome Variant Server DHRS2_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.105T>C r.(=) p.(=) g.24108178T>C Copied from the Exome Variant Server DHRS2_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.109C>T r.(?) p.(Arg37Trp) g.24108182C>T Copied from the Exome Variant Server DHRS2_000015 9/13006 9/8600 0/4406 - - - - - - -
?/? c.117C>T r.(=) p.(=) g.24108190C>T Copied from the Exome Variant Server DHRS2_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.118G>A r.(?) p.(Val40Met) g.24108191G>A Copied from the Exome Variant Server DHRS2_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.125C>T r.(?) p.(Thr42Met) g.24108198C>T Copied from the Exome Variant Server DHRS2_000018 6/13006 1/8600 5/4406 - - - - - - -
?/? c.126G>A r.(=) p.(=) g.24108199G>A Copied from the Exome Variant Server DHRS2_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140+1G>A r.spl? p.? g.24108214G>A Copied from the Exome Variant Server DHRS2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140+19A>C r.(=) p.(=) g.24108232A>C Copied from the Exome Variant Server DHRS2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140+40G>A r.(=) p.(=) g.24108253G>A Copied from the Exome Variant Server DHRS2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.141-19C>T r.(=) p.(=) g.24108369C>T Copied from the Exome Variant Server DHRS2_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141-17del r.(=) p.(=) g.24108371del Copied from the Exome Variant Server DHRS2_000024 1/12518 1/8254 0/4264 - - - - - - -
?/? c.141-13T>C r.(=) p.(=) g.24108375T>C Copied from the Exome Variant Server DHRS2_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141-11T>C r.(=) p.(=) g.24108377T>C Copied from the Exome Variant Server DHRS2_000026 3/13006 0/8600 3/4406 - - - - - - -
?/? c.141-10C>G r.(=) p.(=) g.24108378C>G Copied from the Exome Variant Server DHRS2_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.156C>T r.(=) p.(=) g.24108403C>T Copied from the Exome Variant Server DHRS2_000028 4/13006 1/8600 3/4406 - - - - - - -
?/? c.159C>G r.(=) p.(=) g.24108406C>G Copied from the Exome Variant Server DHRS2_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.160C>T r.(?) p.(Arg54*) g.24108407C>T Copied from the Exome Variant Server DHRS2_000030 2/13006 1/8600 1/4406 - - - - - - -
?/? c.164G>A r.(?) p.(Arg55His) g.24108411G>A Copied from the Exome Variant Server DHRS2_000031 5/13006 5/8600 0/4406 - - - - - - -
?/? c.177C>T r.(=) p.(=) g.24108424C>T Copied from the Exome Variant Server DHRS2_000032 67/13006 1/8600 66/4406 - - - - - - -
?/? c.184C>T r.(?) p.(His62Tyr) g.24108431C>T Copied from the Exome Variant Server DHRS2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.202C>T r.(?) p.(Arg68Trp) g.24108449C>T Copied from the Exome Variant Server DHRS2_000034 1/13004 1/8598 0/4406 - - - - - - -
?/? c.203G>A r.(?) p.(Arg68Gln) g.24108450G>A Copied from the Exome Variant Server DHRS2_000035 4/13004 3/8598 1/4406 - - - - - - -
?/? c.208C>T r.(?) p.(Gln70*) g.24108455C>T Copied from the Exome Variant Server DHRS2_000036 1/13004 1/8598 0/4406 - - - - - - -
?/? c.223C>T r.(?) p.(Arg75Trp) g.24108470C>T Copied from the Exome Variant Server DHRS2_000037 1/13004 1/8598 0/4406 - - - - - - -
?/? c.224G>A r.(?) p.(Arg75Gln) g.24108471G>A Copied from the Exome Variant Server DHRS2_000038 1/13004 1/8598 0/4406 - - - - - - -
?/? c.225G>T r.(=) p.(=) g.24108472G>T Copied from the Exome Variant Server DHRS2_000039 1/13004 1/8598 0/4406 - - - - - - -
?/? c.232G>A r.(?) p.(Ala78Thr) g.24108479G>A Copied from the Exome Variant Server DHRS2_000040 2/13000 2/8596 0/4404 - - - - - - -
?/? c.250G>A r.(?) p.(Gly84Arg) g.24108497G>A Copied from the Exome Variant Server DHRS2_000041 50/13002 47/8598 3/4404 - - - - - - -
?/? c.264G>A r.(=) p.(=) g.24108511G>A Copied from the Exome Variant Server DHRS2_000042 4/13000 0/8598 4/4402 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.24108523C>T Copied from the Exome Variant Server DHRS2_000043 121/13000 111/8598 10/4402 - - - - - - -
?/? c.283G>A r.(?) p.(Gly95Arg) g.24108530G>A Copied from the Exome Variant Server DHRS2_000044 52/13000 45/8598 7/4402 - - - - - - -
?/? c.318G>A r.(=) p.(=) g.24108565G>A Copied from the Exome Variant Server DHRS2_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.318+14C>T r.(=) p.(=) g.24108579C>T Copied from the Exome Variant Server DHRS2_000046 1/13004 0/8600 1/4404 - - - - - - -
?/? c.319-48T>C r.(=) p.(=) g.24108955T>C Copied from the Exome Variant Server DHRS2_000047 1476/13004 16/8598 1460/4406 - - - - - - -
?/? c.319-12T>C r.(=) p.(=) g.24108991T>C Copied from the Exome Variant Server DHRS2_000048 48/13006 1/8600 47/4406 - - - - - - -
?/? c.319-4G>A r.spl? p.? g.24108999G>A Copied from the Exome Variant Server DHRS2_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.320C>G r.(?) p.(Ala107Gly) g.24109004C>G Copied from the Exome Variant Server DHRS2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.340G>A r.(?) p.(Val114Ile) g.24109024G>A Copied from the Exome Variant Server DHRS2_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.24109035G>A Copied from the Exome Variant Server DHRS2_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.359G>A r.(?) p.(Ser120Asn) g.24109043G>A Copied from the Exome Variant Server DHRS2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.24109044C>T Copied from the Exome Variant Server DHRS2_000054 11/13006 0/8600 11/4406 - - - - - - -
?/? c.376C>T r.(=) p.(=) g.24109060C>T Copied from the Exome Variant Server DHRS2_000055 21/13006 0/8600 21/4406 - - - - - - -
?/? c.381A>G r.(=) p.(=) g.24109065A>G Copied from the Exome Variant Server DHRS2_000056 50/13006 1/8600 49/4406 - - - - - - -
?/? c.391C>G r.(?) p.(Leu131Val) g.24109075C>G Copied from the Exome Variant Server DHRS2_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.416A>G r.(?) p.(Asp139Gly) g.24109100A>G Copied from the Exome Variant Server DHRS2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.420+16T>C r.(=) p.(=) g.24109120T>C Copied from the Exome Variant Server DHRS2_000059 5/13006 0/8600 5/4406 - - - - - - -
?/? c.420+25G>A r.(=) p.(=) g.24109129G>A Copied from the Exome Variant Server DHRS2_000060 3/13004 1/8600 2/4404 - - - - - - -
?/? c.420+40T>G r.(=) p.(=) g.24109144T>G Copied from the Exome Variant Server DHRS2_000061 47/12994 1/8598 46/4396 - - - - - - -
?/? c.421-63T>A r.(=) p.(=) g.24112298T>A Copied from the Exome Variant Server DHRS2_000062 2/4566 0/3182 2/1384 - - - - - - -
?/? c.421-58G>T r.(=) p.(=) g.24112303G>T Copied from the Exome Variant Server DHRS2_000063 16/4566 14/3182 2/1384 - - - - - - -
?/? c.421-52C>G r.(=) p.(=) g.24112309C>G Copied from the Exome Variant Server DHRS2_000064 1/10300 0/7164 1/3136 - - - - - - -
?/? c.421-47G>A r.(=) p.(=) g.24112314G>A Copied from the Exome Variant Server DHRS2_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.421-27C>T r.(=) p.(=) g.24112334C>T Copied from the Exome Variant Server DHRS2_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.421-24A>T r.(=) p.(=) g.24112337A>T Copied from the Exome Variant Server DHRS2_000067 12/13006 12/8600 0/4406 - - - - - - -
?/? c.421-20A>C r.(=) p.(=) g.24112341A>C Copied from the Exome Variant Server DHRS2_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.421-8G>A r.(=) p.(=) g.24112353G>A Copied from the Exome Variant Server DHRS2_000069 7/13006 0/8600 7/4406 - - - - - - -
?/? c.449C>T r.(?) p.(Ala150Val) g.24112389C>T Copied from the Exome Variant Server DHRS2_000070 38/13006 0/8600 38/4406 - - - - - - -
?/? c.480G>T r.(?) p.(Met160Ile) g.24112420G>T Copied from the Exome Variant Server DHRS2_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.488+12C>T r.(=) p.(=) g.24112440C>T Copied from the Exome Variant Server DHRS2_000072 21/13006 13/8600 8/4406 - - - - - - -
?/? c.488+13G>A r.(=) p.(=) g.24112441G>A Copied from the Exome Variant Server DHRS2_000073 59/13006 5/8600 54/4406 - - - - - - -
?/? c.488+29C>T r.(=) p.(=) g.24112457C>T Copied from the Exome Variant Server DHRS2_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.488+30G>A r.(=) p.(=) g.24112458G>A Copied from the Exome Variant Server DHRS2_000075 4/13006 4/8600 0/4406 - - - - - - -
?/? c.489-62A>T r.(=) p.(=) g.24113258A>T Copied from the Exome Variant Server DHRS2_000076 1/4566 1/3182 0/1384 - - - - - - -
?/? c.489-12G>T r.(=) p.(=) g.24113308G>T Copied from the Exome Variant Server DHRS2_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.489-11T>C r.(=) p.(=) g.24113309T>C Copied from the Exome Variant Server DHRS2_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.489-10C>T r.(=) p.(=) g.24113310C>T Copied from the Exome Variant Server DHRS2_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.515_516insCATT r.(?) p.(Ala174Hisfs*5) g.24113346_24113347insCATT Copied from the Exome Variant Server DHRS2_000080 1/12518 1/8254 0/4264 - - - - - - -
?/? c.539T>C r.(?) p.(Val180Ala) g.24113370T>C Copied from the Exome Variant Server DHRS2_000081 8/13006 8/8600 0/4406 - - - - - - -
?/? c.540+15C>T r.(=) p.(=) g.24113386C>T Copied from the Exome Variant Server DHRS2_000082 37/13006 0/8600 37/4406 - - - - - - -
?/? c.540+28G>A r.(=) p.(=) g.24113399G>A Copied from the Exome Variant Server DHRS2_000083 38/13006 0/8600 38/4406 - - - - - - -
?/? c.540+36G>A r.(=) p.(=) g.24113407G>A Copied from the Exome Variant Server DHRS2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.540+58T>C r.(=) p.(=) g.24113429T>C Copied from the Exome Variant Server DHRS2_000085 8/4566 0/3182 8/1384 - - - - - - -
?/? c.541-45C>T r.(=) p.(=) g.24113573C>T Copied from the Exome Variant Server DHRS2_000086 38/13006 0/8600 38/4406 - - - - - - -
?/? c.541-42C>A r.(=) p.(=) g.24113576C>A Copied from the Exome Variant Server DHRS2_000087 2/13006 0/8600 2/4406 - - - - - - -
?/? c.542C>T r.(?) p.(Ala181Val) g.24113619C>T Copied from the Exome Variant Server DHRS2_000088 2/13006 0/8600 2/4406 - - - - - - -
?/? c.557A>G r.(?) p.(Asn186Ser) g.24113634A>G Copied from the Exome Variant Server DHRS2_000089 55/13006 50/8600 5/4406 - - - - - - -
?/? c.572C>T r.(?) p.(Ala191Val) g.24113649C>T Copied from the Exome Variant Server DHRS2_000090 2/13006 1/8600 1/4406 - - - - - - -
?/? c.573G>A r.(=) p.(=) g.24113650G>A Copied from the Exome Variant Server DHRS2_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.581G>A r.(?) p.(Gly194Asp) g.24113658G>A Copied from the Exome Variant Server DHRS2_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.601T>C r.(=) p.(=) g.24113678T>C Copied from the Exome Variant Server DHRS2_000093 2/13006 2/8600 0/4406 - - - - - - -
?/? c.617A>G r.(?) p.(Lys206Arg) g.24113694A>G Copied from the Exome Variant Server DHRS2_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.625C>T r.(?) p.(Arg209Trp) g.24113702C>T Copied from the Exome Variant Server DHRS2_000095 13/13006 13/8600 0/4406 - - - - - - -
?/? c.649A>G r.(?) p.(Ile217Val) g.24113726A>G Copied from the Exome Variant Server DHRS2_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.651T>G r.(?) p.(Ile217Met) g.24113728T>G Copied from the Exome Variant Server DHRS2_000097 39/13006 0/8600 39/4406 - - - - - - -
?/? c.686+3G>A r.spl? p.? g.24113766G>A Copied from the Exome Variant Server DHRS2_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.686+37del r.(=) p.(=) g.24113800del Copied from the Exome Variant Server DHRS2_000099 17/12518 0/8254 17/4264 - - - - - - -
?/? c.686+42C>T r.(=) p.(=) g.24113805C>T Copied from the Exome Variant Server DHRS2_000100 1/13006 1/8600 0/4406 - - - - - - -
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