Full data view for gene ENOX2

Information The variants shown are described using the NM_182314.1 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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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.-40-10_-40-9del r.(=) p.(=) g.129843314_129843315del Copied from the Exome Variant Server ENOX2_000075 1/10203 0/6482 1/3721 - - - - - - -
?/? c.-16A>G r.(=) p.(=) g.129843281T>C Copied from the Exome Variant Server ENOX2_000074 2/10563 0/6728 2/3835 - - - - - - -
?/? c.33C>T r.(=) p.(=) g.129843233G>A Copied from the Exome Variant Server ENOX2_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.46G>T r.(?) p.(Ala16Ser) g.129843220C>A Copied from the Exome Variant Server ENOX2_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.49+35T>C r.(=) p.(=) g.129843182A>G Copied from the Exome Variant Server ENOX2_000071 9/10563 0/6728 9/3835 - - - - - - -
?/? c.49+63A>G r.(=) p.(=) g.129843154T>C Copied from the Exome Variant Server ENOX2_000070 2/3600 2/2391 0/1209 - - - - - - -
?/? c.50-51G>A r.(=) p.(=) g.129837279C>T Copied from the Exome Variant Server ENOX2_000069 1/10563 0/6728 1/3835 - - - - - - -
?/? c.52G>A r.(?) p.(Asp18Asn) g.129837226C>T Copied from the Exome Variant Server ENOX2_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.88A>G r.(?) p.(Met30Val) g.129837190T>C Copied from the Exome Variant Server ENOX2_000067 4/10563 0/6728 4/3835 - - - - - - -
?/? c.153G>T r.(=) p.(=) g.129837125C>A Copied from the Exome Variant Server ENOX2_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.158G>C r.(?) p.(Gly53Ala) g.129837120C>G Copied from the Exome Variant Server ENOX2_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.165C>T r.(=) p.(=) g.129837113G>A Copied from the Exome Variant Server ENOX2_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.184+33A>G r.(=) p.(=) g.129837061T>C Copied from the Exome Variant Server ENOX2_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.184+51G>A r.(=) p.(=) g.129837043C>T Copied from the Exome Variant Server ENOX2_000062 2/10563 2/6728 0/3835 - - - - - - -
?/? c.235A>G r.(?) p.(Met79Val) g.129822942T>C Copied from the Exome Variant Server ENOX2_000061 2/10563 2/6728 0/3835 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.129822856C>T Copied from the Exome Variant Server ENOX2_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.340+37A>G r.(=) p.(=) g.129822800T>C Copied from the Exome Variant Server ENOX2_000059 664/10563 4/6728 660/3835 - - - - - - -
?/? c.447G>A r.(=) p.(=) g.129813616C>T Copied from the Exome Variant Server ENOX2_000058 10/10563 0/6728 10/3835 - - - - - - -
?/? c.472C>T r.(?) p.(Arg158Cys) g.129813591G>A Copied from the Exome Variant Server ENOX2_000057 1/10563 0/6728 1/3835 - - - - - - -
?/? c.473G>A r.(?) p.(Arg158His) g.129813590C>T Copied from the Exome Variant Server ENOX2_000056 2/10563 2/6728 0/3835 - - - - - - -
?/? c.547+42G>A r.(=) p.(=) g.129813474C>T Copied from the Exome Variant Server ENOX2_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.612C>T r.(=) p.(=) g.129804108G>A Copied from the Exome Variant Server ENOX2_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.727C>G r.(?) p.(Pro243Ala) g.129803993G>C Copied from the Exome Variant Server ENOX2_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.781+10G>A r.(=) p.(=) g.129803929C>T Copied from the Exome Variant Server ENOX2_000052 24/10563 0/6728 24/3835 - - - - - - -
?/? c.781+38C>G r.(=) p.(=) g.129803901G>C Copied from the Exome Variant Server ENOX2_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.782-51T>C r.(=) p.(=) g.129801767A>G Copied from the Exome Variant Server ENOX2_000050 1/10527 1/6698 0/3829 - - - - - - -
?/? c.782-49G>A r.(=) p.(=) g.129801765C>T Copied from the Exome Variant Server ENOX2_000049 1/10534 1/6704 0/3830 - - - - - - -
?/? c.782-22T>A r.(=) p.(=) g.129801738A>T Copied from the Exome Variant Server ENOX2_000048 58/10562 0/6728 58/3834 - - - - - - -
?/? c.782-19A>C r.(=) p.(=) g.129801735T>G Copied from the Exome Variant Server ENOX2_000047 129/10563 1/6728 128/3835 - - - - - - -
?/? c.900C>A r.(=) p.(=) g.129801598G>T Copied from the Exome Variant Server ENOX2_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.902G>A r.(?) p.(Arg301His) g.129801596C>T Copied from the Exome Variant Server ENOX2_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.905G>A r.(?) p.(Arg302His) g.129801593C>T Copied from the Exome Variant Server ENOX2_000044 4/10563 0/6728 4/3835 - - - - - - -
?/? c.941T>C r.(?) p.(Met314Thr) g.129801557A>G Copied from the Exome Variant Server ENOX2_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.950C>G r.(?) p.(Ala317Gly) g.129801548G>C Copied from the Exome Variant Server ENOX2_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.966G>C r.(?) p.(Lys322Asn) g.129801532C>G Copied from the Exome Variant Server ENOX2_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.995-26A>G r.(=) p.(=) g.129799749T>C Copied from the Exome Variant Server ENOX2_000040 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.129799695G>A Copied from the Exome Variant Server ENOX2_000039 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1013_1042del r.(?) p.(Val338_Trp348delinsGly) g.129799676_129799705del Copied from the Exome Variant Server ENOX2_000038 1/10204 1/6483 0/3721 - - - - - - -
?/? c.1044G>A r.(?) p.(Trp348*) g.129799674C>T Copied from the Exome Variant Server ENOX2_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1086G>A r.(?) p.(Trp362*) g.129799632C>T Copied from the Exome Variant Server ENOX2_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1101+30T>C r.(=) p.(=) g.129799587A>G Copied from the Exome Variant Server ENOX2_000035 58/10538 0/6711 58/3827 - - - - - - -
?/? c.1101+32G>A r.(=) p.(=) g.129799585C>T Copied from the Exome Variant Server ENOX2_000034 10/10535 0/6709 10/3826 - - - - - - -
?/? c.1101+36G>A r.(=) p.(=) g.129799581C>T Copied from the Exome Variant Server ENOX2_000033 3/10529 0/6706 3/3823 - - - - - - -
?/? c.1101+36_1101+37insG r.(=) p.(=) g.129799580_129799581insC Copied from the Exome Variant Server ENOX2_000032 4/10162 1/6453 3/3709 - - - - - - -
?/? c.1216+6G>A r.(=) p.(=) g.129790549C>T Copied from the Exome Variant Server ENOX2_000031 114/10556 109/6725 5/3831 - - - - - - -
?/? c.1216+39A>G r.(=) p.(=) g.129790516T>C Copied from the Exome Variant Server ENOX2_000030 1/10548 1/6719 0/3829 - - - - - - -
?/? c.1217-12A>G r.(=) p.(=) g.129771396T>C Copied from the Exome Variant Server ENOX2_000029 128/10563 1/6728 127/3835 - - - - - - -
?/? c.1232C>T r.(?) p.(Ala411Val) g.129771369G>A Copied from the Exome Variant Server ENOX2_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1264C>T r.(?) p.(Arg422Cys) g.129771337G>A Copied from the Exome Variant Server ENOX2_000027 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1371G>A r.(=) p.(=) g.129771230C>T Copied from the Exome Variant Server ENOX2_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1389A>G r.(=) p.(=) g.129771212T>C Copied from the Exome Variant Server ENOX2_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1399-40C>T r.(=) p.(=) g.129769105G>A Copied from the Exome Variant Server ENOX2_000024 2/10553 2/6722 0/3831 - - - - - - -
?/? c.1483A>G r.(?) p.(Met495Val) g.129768981T>C Copied from the Exome Variant Server ENOX2_000023 1/10560 0/6727 1/3833 - - - - - - -
?/? c.1490A>G r.(?) p.(Glu497Gly) g.129768974T>C Copied from the Exome Variant Server ENOX2_000022 20/10560 0/6727 20/3833 - - - - - - -
?/? c.1506+6T>C r.(=) p.(=) g.129768952A>G Copied from the Exome Variant Server ENOX2_000021 1/10555 1/6722 0/3833 - - - - - - -
?/? c.1506+47T>C r.(=) p.(=) g.129768911A>G Copied from the Exome Variant Server ENOX2_000020 1/10543 1/6716 0/3827 - - - - - - -
?/? c.1507-39A>G r.(=) p.(=) g.129765589T>C Copied from the Exome Variant Server ENOX2_000019 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1507-3C>T r.spl? p.? g.129765553G>A Copied from the Exome Variant Server ENOX2_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1525C>A r.(?) p.(Leu509Met) g.129765532G>T Copied from the Exome Variant Server ENOX2_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1548C>A r.(?) p.(Ser516Arg) g.129765509G>T Copied from the Exome Variant Server ENOX2_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1549G>A r.(?) p.(Glu517Lys) g.129765508C>T Copied from the Exome Variant Server ENOX2_000015 8/10563 6/6728 2/3835 - - - - - - -
?/? c.1552T>A r.(?) p.(Tyr518Asn) g.129765505A>T Copied from the Exome Variant Server ENOX2_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1557T>C r.(=) p.(=) g.129765500A>G Copied from the Exome Variant Server ENOX2_000013 16/10563 16/6728 0/3835 - - - - - - -
?/? c.1598G>A r.(?) p.(Arg533His) g.129765459C>T Copied from the Exome Variant Server ENOX2_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1607T>G r.(?) p.(Leu536Arg) g.129765450A>C Copied from the Exome Variant Server ENOX2_000011 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1615+28G>A r.(=) p.(=) g.129765414C>T Copied from the Exome Variant Server ENOX2_000010 178/10563 40/6728 138/3835 - - - - - - -
?/? c.1616-50C>G r.(=) p.(=) g.129762067G>C Copied from the Exome Variant Server ENOX2_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1616-48C>G r.(=) p.(=) g.129762065G>C Copied from the Exome Variant Server ENOX2_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1616-13C>T r.(=) p.(=) g.129762030G>A Copied from the Exome Variant Server ENOX2_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1701+7G>A r.(=) p.(=) g.129761925C>T Copied from the Exome Variant Server ENOX2_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1702-4A>G r.spl? p.? g.129759423T>C Copied from the Exome Variant Server ENOX2_000005 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1723T>C r.(?) p.(Cys575Arg) g.129759398A>G Copied from the Exome Variant Server ENOX2_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1728C>G r.(=) p.(=) g.129759393G>C Copied from the Exome Variant Server ENOX2_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1813G>A r.(?) p.(Glu605Lys) g.129759308C>T Copied from the Exome Variant Server ENOX2_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*3C>A r.(=) p.(=) g.129759285G>T Copied from the Exome Variant Server ENOX2_000001 1/10563 1/6728 0/3835 - - - - - - -
Legend