Full data view for gene TAZ

Information The variants shown are described using the NM_000116.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.110-51C>T r.(=) p.(=) g.153640372C>T Copied from the Exome Variant Server TAZ_000015 1/10533 1/6716 0/3817 - - - - - - -
?/? c.110-17C>T r.(=) p.(=) g.153640406C>T Copied from the Exome Variant Server TAZ_000016 1805/10551 1666/6726 139/3825 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.153640436C>T Copied from the Exome Variant Server TAZ_000017 1/10556 1/6726 0/3830 - - - - - - -
?/? c.239-43_239-37del r.(=) p.(=) g.153641501_153641507del Copied from the Exome Variant Server TAZ_000018 12/10202 9/6482 3/3720 - - - - - - -
?/? c.239-27G>A r.(=) p.(=) g.153641517G>A Copied from the Exome Variant Server TAZ_000019 10/10561 0/6727 10/3834 - - - - - - -
?/? c.253C>T r.(?) p.(Arg85Cys) g.153641558C>T Copied from the Exome Variant Server TAZ_000020 1/10561 1/6727 0/3834 - - - - - - -
?/? c.284+21C>T r.(=) p.(=) g.153641610C>T Copied from the Exome Variant Server TAZ_000043 1/10560 0/6727 1/3833 - - - - - - -
?/? c.284+30C>T r.(=) p.(=) g.153641619C>T Copied from the Exome Variant Server TAZ_000044 66/10560 60/6727 6/3833 - - - - - - -
?/? c.284+32G>A r.(=) p.(=) g.153641621G>A Copied from the Exome Variant Server TAZ_000045 1/10552 0/6724 1/3828 - - - - - - -
?/? c.284+36C>T r.(=) p.(=) g.153641625C>T Copied from the Exome Variant Server TAZ_000021 4/10549 4/6722 0/3827 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.153641855G>A Copied from the Exome Variant Server TAZ_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.331C>T r.(?) p.(His111Tyr) g.153641865C>T Copied from the Exome Variant Server TAZ_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.370+18C>T r.(=) p.(=) g.153641922C>T Copied from the Exome Variant Server TAZ_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.383T>C r.(?) p.(Phe128Ser) g.153642450T>C Copied from the Exome Variant Server TAZ_000025 202/10562 1/6728 201/3834 - - - - - - -
?/? c.460+25C>T r.(=) p.(=) g.153642552C>T Copied from the Exome Variant Server TAZ_000026 1/10560 1/6727 0/3833 - - - - - - -
?/? c.461-46C>T r.(=) p.(=) g.153647836C>T Copied from the Exome Variant Server TAZ_000027 183/10563 1/6728 182/3835 - - - - - - -
?/? c.461-7C>T r.(=) p.(=) g.153647875C>T Copied from the Exome Variant Server TAZ_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.541+30C>T r.(=) p.(=) g.153647992C>T Copied from the Exome Variant Server TAZ_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.542-20C>T r.(=) p.(=) g.153648024C>T Copied from the Exome Variant Server TAZ_000030 3/10563 3/6728 0/3835 - - - - - - -
?/? c.562G>A r.(?) p.(Glu188Lys) g.153648064G>A Copied from the Exome Variant Server TAZ_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.153648069C>T Copied from the Exome Variant Server TAZ_000032 3/10563 0/6728 3/3835 - - - - - - -
?/? c.583+10G>A r.(=) p.(=) g.153648095G>A Copied from the Exome Variant Server TAZ_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.583+30A>G r.(=) p.(=) g.153648115A>G Copied from the Exome Variant Server TAZ_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.591G>T r.(=) p.(=) g.153648378G>T Copied from the Exome Variant Server TAZ_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.593G>A r.(?) p.(Arg198His) g.153648380G>A Copied from the Exome Variant Server TAZ_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.645C>T r.(=) p.(=) g.153648432C>T Copied from the Exome Variant Server TAZ_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.646+14C>T r.(=) p.(=) g.153648447C>T Copied from the Exome Variant Server TAZ_000038 32/10563 0/6728 32/3835 - - - - - - -
?/? c.646+15G>A r.(=) p.(=) g.153648448G>A Copied from the Exome Variant Server TAZ_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.646+55_647-55del r.(=) p.(=) g.153648488_153648496del Copied from the Exome Variant Server TAZ_000040 35/10205 17/6484 18/3721 - - - - - - -
?/? c.647-42C>T r.(=) p.(=) g.153648509C>T Copied from the Exome Variant Server TAZ_000041 97/10563 0/6728 97/3835 - - - - - - -
?/? c.647-37C>T r.(=) p.(=) g.153648514C>T Copied from the Exome Variant Server TAZ_000042 3/10563 1/6728 2/3835 - - - - - - -
?/? c.647-36C>T r.(=) p.(=) g.153648515C>T Copied from the Exome Variant Server TAZ_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.647-29C>T r.(=) p.(=) g.153648522C>T Copied from the Exome Variant Server TAZ_000002 16/10563 0/6728 16/3835 - - - - - - -
?/? c.647-28G>T r.(=) p.(=) g.153648523G>T Copied from the Exome Variant Server TAZ_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.657C>T r.(=) p.(=) g.153648561C>T Copied from the Exome Variant Server TAZ_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.153648564C>T Copied from the Exome Variant Server TAZ_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.674C>T r.(?) p.(Pro225Leu) g.153648578C>T Copied from the Exome Variant Server TAZ_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.699+23C>T r.(=) p.(=) g.153648626C>T Copied from the Exome Variant Server TAZ_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.700-47G>A r.(=) p.(=) g.153648950G>A Copied from the Exome Variant Server TAZ_000008 13/10563 0/6728 13/3835 - - - - - - -
?/? c.747C>T r.(=) p.(=) g.153649044C>T Copied from the Exome Variant Server TAZ_000009 2/10563 2/6728 0/3835 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.153649068G>A Copied from the Exome Variant Server TAZ_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.777+23C>T r.(=) p.(=) g.153649097C>T Copied from the Exome Variant Server TAZ_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.777+24G>A r.(=) p.(=) g.153649098G>A Copied from the Exome Variant Server TAZ_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.153649337G>A Copied from the Exome Variant Server TAZ_000013 49/10563 46/6728 3/3835 - - - - - - -
?/? c.*25C>A r.(=) p.(=) g.153649368C>A Copied from the Exome Variant Server TAZ_000014 1/10562 1/6728 0/3834 - - - - - - -
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