Unique variants in gene TMEM53

Information The variants shown are described using the NM_024587.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-26C>T r.(=) p.(=) g.45140089G>A Copied from the Exome Variant Server TMEM53_000057 2/13006 0/8600 2/4406
1 c.-25C>G r.(=) p.(=) g.45140088G>C Copied from the Exome Variant Server TMEM53_000056 2/13006 1/8600 1/4406
1 c.-19C>G r.(=) p.(=) g.45140082G>C Copied from the Exome Variant Server TMEM53_000055 70/13006 0/8600 70/4406
1 c.24C>T r.(=) p.(=) g.45140040G>A Copied from the Exome Variant Server TMEM53_000054 2/13006 0/8600 2/4406
1 c.26C>T r.(?) p.(Thr9Ile) g.45140038G>A Copied from the Exome Variant Server TMEM53_000053 59/13006 54/8600 5/4406
1 c.61+17G>A r.(=) p.(=) g.45139986C>T Copied from the Exome Variant Server TMEM53_000051 1/13006 0/8600 1/4406
1 c.61+32G>C r.(=) p.(=) g.45139971C>G Copied from the Exome Variant Server TMEM53_000049 19/13006 18/8600 1/4406
1 c.62-46G>A r.(=) p.(=) g.45126013C>T Copied from the Exome Variant Server TMEM53_000047 2/13006 0/8600 2/4406
1 c.62-37C>T r.(=) p.(=) g.45126004G>A Copied from the Exome Variant Server TMEM53_000046 1/13006 0/8600 1/4406
1 c.100C>T r.(?) p.(Arg34Trp) g.45125929G>A Copied from the Exome Variant Server TMEM53_000044 3/13006 1/8600 2/4406
1 c.183+8C>T r.(=) p.(=) g.45125838G>A Copied from the Exome Variant Server TMEM53_000042 1/13006 0/8600 1/4406
1 c.183+35G>A r.(=) p.(=) g.45125811C>T Copied from the Exome Variant Server TMEM53_000039 3/13006 0/8600 3/4406
1 c.184-4C>T r.spl? p.? g.45120885G>A Copied from the Exome Variant Server TMEM53_000037 1/12992 0/8598 1/4394
1 c.217C>A r.(?) p.(His73Asn) g.45120848G>T Copied from the Exome Variant Server TMEM53_000052 1/13006 0/8600 1/4406
1 c.222G>A r.(?) p.(Met74Ile) g.45120843C>T Copied from the Exome Variant Server TMEM53_000050 2/13006 2/8600 0/4406
1 c.234C>T r.(=) p.(=) g.45120831G>A Copied from the Exome Variant Server TMEM53_000048 1/13006 0/8600 1/4406
1 c.260G>A r.(?) p.(Arg87His) g.45120805C>T Copied from the Exome Variant Server TMEM53_000045 1/13006 0/8600 1/4406
1 c.330T>C r.(=) p.(=) g.45120735A>G Copied from the Exome Variant Server TMEM53_000043 17/13006 0/8600 17/4406
1 c.343G>A r.(?) p.(Gly115Ser) g.45120722C>T Copied from the Exome Variant Server TMEM53_000041 3/13006 3/8600 0/4406
1 c.348C>T r.(=) p.(=) g.45120717G>A Copied from the Exome Variant Server TMEM53_000040 1/13006 1/8600 0/4406
1 c.367G>A r.(?) p.(Val123Met) g.45120698C>T Copied from the Exome Variant Server TMEM53_000038 1/13006 0/8600 1/4406
1 c.375G>A r.(=) p.(=) g.45120690C>T Copied from the Exome Variant Server TMEM53_000036 1/13006 1/8600 0/4406
1 c.379C>T r.(=) p.(=) g.45120686G>A Copied from the Exome Variant Server TMEM53_000035 1/13006 0/8600 1/4406
1 c.391C>T r.(?) p.(Arg131Cys) g.45120674G>A Copied from the Exome Variant Server TMEM53_000034 9/13006 9/8600 0/4406
1 c.392G>A r.(?) p.(Arg131His) g.45120673C>T Copied from the Exome Variant Server TMEM53_000033 1/13006 0/8600 1/4406
1 c.400C>T r.(?) p.(Arg134Cys) g.45120665G>A Copied from the Exome Variant Server TMEM53_000032 1/13006 0/8600 1/4406
1 c.401G>A r.(?) p.(Arg134His) g.45120664C>T Copied from the Exome Variant Server TMEM53_000031 60/13006 1/8600 59/4406
1 c.403C>G r.(?) p.(Leu135Val) g.45120662G>C Copied from the Exome Variant Server TMEM53_000030 18/13006 16/8600 2/4406
1 c.406C>T r.(?) p.(Arg136Cys) g.45120659G>A Copied from the Exome Variant Server TMEM53_000029 1/13006 1/8600 0/4406
1 c.451C>T r.(=) p.(=) g.45120614G>A Copied from the Exome Variant Server TMEM53_000028 1/13006 1/8600 0/4406
1 c.453G>A r.(=) p.(=) g.45120612C>T Copied from the Exome Variant Server TMEM53_000027 1/13006 1/8600 0/4406
1 c.464T>C r.(?) p.(Leu155Pro) g.45120601A>G Copied from the Exome Variant Server TMEM53_000026 1/13006 1/8600 0/4406
1 c.466C>T r.(?) p.(Arg156Trp) g.45120599G>A Copied from the Exome Variant Server TMEM53_000025 1/13006 1/8600 0/4406
1 c.505C>T r.(=) p.(=) g.45120560G>A Copied from the Exome Variant Server TMEM53_000024 3/13006 3/8600 0/4406
1 c.509G>A r.(?) p.(Arg170His) g.45120556C>T Copied from the Exome Variant Server TMEM53_000023 1/13006 1/8600 0/4406
1 c.519G>C r.(=) p.(=) g.45120546C>G Copied from the Exome Variant Server TMEM53_000022 8/13006 0/8600 8/4406
1 c.523G>A r.(?) p.(Val175Met) g.45120542C>T Copied from the Exome Variant Server TMEM53_000021 41/13006 0/8600 41/4406
1 c.544G>A r.(?) p.(Val182Ile) g.45120521C>T Copied from the Exome Variant Server TMEM53_000020 1/13006 1/8600 0/4406
1 c.615C>T r.(=) p.(=) g.45120450G>A Copied from the Exome Variant Server TMEM53_000019 1/13006 0/8600 1/4406
1 c.618G>A r.(=) p.(=) g.45120447C>T Copied from the Exome Variant Server TMEM53_000018 1/13006 0/8600 1/4406
1 c.628T>A r.(?) p.(Trp210Arg) g.45120437A>T Copied from the Exome Variant Server TMEM53_000017 1/13006 0/8600 1/4406
1 c.633C>T r.(=) p.(=) g.45120432G>A Copied from the Exome Variant Server TMEM53_000016 58/13006 1/8600 57/4406
1 c.660C>T r.(=) p.(=) g.45120405G>A Copied from the Exome Variant Server TMEM53_000015 1/13006 1/8600 0/4406
1 c.688C>T r.(?) p.(Arg230Cys) g.45120377G>A Copied from the Exome Variant Server TMEM53_000014 1/13006 1/8600 0/4406
1 c.699G>A r.(=) p.(=) g.45120366C>T Copied from the Exome Variant Server TMEM53_000013 77/13006 64/8600 13/4406
1 c.703C>T r.(?) p.(Arg235Cys) g.45120362G>A Copied from the Exome Variant Server TMEM53_000012 1/13006 1/8600 0/4406
1 c.713G>A r.(?) p.(Arg238His) g.45120352C>T Copied from the Exome Variant Server TMEM53_000011 1/13006 0/8600 1/4406
1 c.725C>T r.(?) p.(Ala242Val) g.45120340G>A Copied from the Exome Variant Server TMEM53_000010 1/13006 0/8600 1/4406
1 c.728G>A r.(?) p.(Arg243His) g.45120337C>T Copied from the Exome Variant Server TMEM53_000009 1/13006 1/8600 0/4406
1 c.737A>G r.(?) p.(Asp246Gly) g.45120328T>C Copied from the Exome Variant Server TMEM53_000008 1/13006 1/8600 0/4406
1 c.741C>T r.(=) p.(=) g.45120324G>A Copied from the Exome Variant Server TMEM53_000007 4/13006 0/8600 4/4406
1 c.747A>G r.(=) p.(=) g.45120318T>C Copied from the Exome Variant Server TMEM53_000006 1/13006 0/8600 1/4406
1 c.759C>T r.(=) p.(=) g.45120306G>A Copied from the Exome Variant Server TMEM53_000005 5/13006 0/8600 5/4406
1 c.801T>C r.(=) p.(=) g.45120264A>G Copied from the Exome Variant Server TMEM53_000004 1/13006 0/8600 1/4406
1 c.814C>T r.(?) p.(Arg272Cys) g.45120251G>A Copied from the Exome Variant Server TMEM53_000003 1/13006 1/8600 0/4406
1 c.826C>T r.(?) p.(Arg276Cys) g.45120239G>A Copied from the Exome Variant Server TMEM53_000002 1/13006 1/8600 0/4406
1 c.827G>A r.(?) p.(Arg276His) g.45120238C>T Copied from the Exome Variant Server TMEM53_000001 1/13006 0/8600 1/4406
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