Full data view for gene OXNAD1

Information The variants shown are described using the NM_138381.3 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.-8-23A>G r.(=) p.(=) g.16312429A>G Copied from the Exome Variant Server OXNAD1_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-8del r.(=) p.(=) g.16312452del Copied from the Exome Variant Server OXNAD1_000002 1/12520 1/8254 0/4266 - - - - - - -
?/? c.37C>T r.(?) p.(Arg13Trp) g.16312496C>T Copied from the Exome Variant Server OXNAD1_000003 6/13006 2/8600 4/4406 - - - - - - -
?/? c.38G>A r.(?) p.(Arg13Gln) g.16312497G>A Copied from the Exome Variant Server OXNAD1_000004 18/13006 16/8600 2/4406 - - - - - - -
?/? c.72G>A r.(=) p.(=) g.16312531G>A Copied from the Exome Variant Server OXNAD1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98T>C r.(?) p.(Leu33Ser) g.16312557T>C Copied from the Exome Variant Server OXNAD1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.16312564C>T Copied from the Exome Variant Server OXNAD1_000007 5016/13006 3655/8600 1361/4406 - - - - - - -
?/? c.119+13G>A r.(=) p.(=) g.16312591G>A Copied from the Exome Variant Server OXNAD1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.119+40T>G r.(=) p.(=) g.16312618T>G Copied from the Exome Variant Server OXNAD1_000009 9/13006 0/8600 9/4406 - - - - - - -
?/? c.146A>G r.(?) p.(Asp49Gly) g.16313192A>G Copied from the Exome Variant Server OXNAD1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.158G>A r.(?) p.(Arg53Lys) g.16313204G>A Copied from the Exome Variant Server OXNAD1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.176G>A r.(?) p.(Arg59Gln) g.16313222G>A Copied from the Exome Variant Server OXNAD1_000013 72/13006 1/8600 71/4406 - - - - - - -
?/? c.178C>T r.(?) p.(Arg60Trp) g.16313224C>T Copied from the Exome Variant Server OXNAD1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.179G>A r.(?) p.(Arg60Gln) g.16313225G>A Copied from the Exome Variant Server OXNAD1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183+7A>G r.(=) p.(=) g.16313236A>G Copied from the Exome Variant Server OXNAD1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183+45T>G r.(=) p.(=) g.16313274T>G Copied from the Exome Variant Server OXNAD1_000021 4/13006 4/8600 0/4406 - - - - - - -
?/? c.183+52G>A r.(=) p.(=) g.16313281G>A Copied from the Exome Variant Server OXNAD1_000023 1/7272 0/4618 1/2654 - - - - - - -
?/? c.184A>G r.(?) p.(Ile62Val) g.16327849A>G Copied from the Exome Variant Server OXNAD1_000025 4/13006 4/8600 0/4406 - - - - - - -
?/? c.190T>G r.(?) p.(Ser64Ala) g.16327855T>G Copied from the Exome Variant Server OXNAD1_000027 5202/13006 3655/8600 1547/4406 - - - - - - -
?/? c.228G>A r.(=) p.(=) g.16327893G>A Copied from the Exome Variant Server OXNAD1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.243C>G r.(=) p.(=) g.16327908C>G Copied from the Exome Variant Server OXNAD1_000031 27/13006 0/8600 27/4406 - - - - - - -
?/? c.244C>T r.(?) p.(Arg82Cys) g.16327909C>T Copied from the Exome Variant Server OXNAD1_000033 2243/13006 1220/8600 1023/4406 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82His) g.16327910G>A Copied from the Exome Variant Server OXNAD1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.259G>T r.(?) p.(Asp87Tyr) g.16327924G>T Copied from the Exome Variant Server OXNAD1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.271T>A r.(?) p.(Ser91Thr) g.16327936T>A Copied from the Exome Variant Server OXNAD1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.290+8A>G r.(=) p.(=) g.16327963A>G Copied from the Exome Variant Server OXNAD1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290+25G>A r.(=) p.(=) g.16327980G>A Copied from the Exome Variant Server OXNAD1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290+27A>G r.(=) p.(=) g.16327982A>G Copied from the Exome Variant Server OXNAD1_000022 6/13006 3/8600 3/4406 - - - - - - -
?/? c.291-52C>G r.(=) p.(=) g.16336311C>G Copied from the Exome Variant Server OXNAD1_000024 194/5734 162/3982 32/1752 - - - - - - -
?/? c.292G>A r.(?) p.(Val98Ile) g.16336364G>A Copied from the Exome Variant Server OXNAD1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.431C>T r.(?) p.(Thr144Met) g.16336503C>T Copied from the Exome Variant Server OXNAD1_000028 5/13006 0/8600 5/4406 - - - - - - -
?/? c.432+23C>T r.(=) p.(=) g.16336527C>T Copied from the Exome Variant Server OXNAD1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.432+28T>A r.(=) p.(=) g.16336532T>A Copied from the Exome Variant Server OXNAD1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.432+51A>C r.(=) p.(=) g.16336555A>C Copied from the Exome Variant Server OXNAD1_000034 2/13006 2/8600 0/4406 - - - - - - -
?/? c.433-41T>G r.(=) p.(=) g.16343092T>G Copied from the Exome Variant Server OXNAD1_000035 9062/13006 5360/8600 3702/4406 - - - - - - -
?/? c.433-6C>A r.(=) p.(=) g.16343127C>A Copied from the Exome Variant Server OXNAD1_000036 4/13006 4/8600 0/4406 - - - - - - -
?/? c.437C>T r.(?) p.(Thr146Ile) g.16343137C>T Copied from the Exome Variant Server OXNAD1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.445T>C r.(?) p.(Cys149Arg) g.16343145T>C Copied from the Exome Variant Server OXNAD1_000038 2/13006 0/8600 2/4406 - - - - - - -
?/? c.475_477del r.(?) p.(Phe161del) g.16343175_16343177del Copied from the Exome Variant Server OXNAD1_000039 19/12520 13/8254 6/4266 - - - - - - -
?/? c.500A>G r.(?) p.(Asp167Gly) g.16343200A>G Copied from the Exome Variant Server OXNAD1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517G>A r.(?) p.(Val173Met) g.16343217G>A Copied from the Exome Variant Server OXNAD1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528_530del r.(?) p.(Gly178del) g.16343228_16343230del Copied from the Exome Variant Server OXNAD1_000042 27/12520 23/8254 4/4266 - - - - - - -
?/? c.539G>A r.(?) p.(Gly180Glu) g.16343239G>A Copied from the Exome Variant Server OXNAD1_000043 2/13006 2/8600 0/4406 - - - - - - -
?/? c.570C>T r.(=) p.(=) g.16343270C>T Copied from the Exome Variant Server OXNAD1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.16343282C>T Copied from the Exome Variant Server OXNAD1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.592C>G r.(?) p.(Gln198Glu) g.16343292C>G Copied from the Exome Variant Server OXNAD1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.609T>C r.(=) p.(=) g.16343309T>C Copied from the Exome Variant Server OXNAD1_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.634C>G r.(?) p.(Leu212Val) g.16343334C>G Copied from the Exome Variant Server OXNAD1_000048 2/13006 2/8600 0/4406 - - - - - - -
?/? c.641A>G r.(?) p.(Tyr214Cys) g.16343341A>G Copied from the Exome Variant Server OXNAD1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.663A>G r.(=) p.(=) g.16343363A>G Copied from the Exome Variant Server OXNAD1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.669G>T r.(=) p.(=) g.16343369G>T Copied from the Exome Variant Server OXNAD1_000051 3/13006 0/8600 3/4406 - - - - - - -
?/? c.676-50G>C r.(=) p.(=) g.16344097G>C Copied from the Exome Variant Server OXNAD1_000052 1/12984 0/8584 1/4400 - - - - - - -
?/? c.676-33T>C r.(=) p.(=) g.16344114T>C Copied from the Exome Variant Server OXNAD1_000053 1/13004 0/8598 1/4406 - - - - - - -
?/? c.678A>G r.(=) p.(=) g.16344149A>G Copied from the Exome Variant Server OXNAD1_000054 4/13006 4/8600 0/4406 - - - - - - -
?/? c.683T>C r.(?) p.(Ile228Thr) g.16344154T>C Copied from the Exome Variant Server OXNAD1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.694G>T r.(?) p.(Val232Leu) g.16344165G>T Copied from the Exome Variant Server OXNAD1_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.707C>T r.(?) p.(Pro236Leu) g.16344178C>T Copied from the Exome Variant Server OXNAD1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.716T>C r.(?) p.(Ile239Thr) g.16344187T>C Copied from the Exome Variant Server OXNAD1_000058 3/13006 0/8600 3/4406 - - - - - - -
?/? c.758A>G r.(?) p.(Asn253Ser) g.16344229A>G Copied from the Exome Variant Server OXNAD1_000059 3/13006 0/8600 3/4406 - - - - - - -
?/? c.761C>T r.(?) p.(Ala254Val) g.16344232C>T Copied from the Exome Variant Server OXNAD1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.784+17T>C r.(=) p.(=) g.16344272T>C Copied from the Exome Variant Server OXNAD1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784+27A>G r.(=) p.(=) g.16344282A>G Copied from the Exome Variant Server OXNAD1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.785-32C>T r.(=) p.(=) g.16344883C>T Copied from the Exome Variant Server OXNAD1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.797C>T r.(?) p.(Thr266Met) g.16344927C>T Copied from the Exome Variant Server OXNAD1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.16344928G>A Copied from the Exome Variant Server OXNAD1_000065 73/13006 1/8600 72/4406 - - - - - - -
?/? c.837G>C r.(?) p.(Leu279Phe) g.16344967G>C Copied from the Exome Variant Server OXNAD1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.844A>C r.(?) p.(Ile282Leu) g.16344974A>C Copied from the Exome Variant Server OXNAD1_000067 2/13006 2/8600 0/4406 - - - - - - -
?/? c.845T>C r.(?) p.(Ile282Thr) g.16344975T>C Copied from the Exome Variant Server OXNAD1_000068 2/13006 0/8600 2/4406 - - - - - - -
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