Full data view for gene TIGD2

Information The variants shown are described using the NM_145715.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-45T>C r.(=) p.(=) g.90034081T>C Copied from the Exome Variant Server TIGD2_000001 1/12990 1/8598 0/4392 - - - - - - -
?/? c.-44A>G r.(=) p.(=) g.90034082A>G Copied from the Exome Variant Server TIGD2_000002 13/12992 0/8598 13/4394 - - - - - - -
?/? c.3G>T r.? p.? g.90034128G>T Copied from the Exome Variant Server TIGD2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.9G>A r.(=) p.(=) g.90034134G>A Copied from the Exome Variant Server TIGD2_000004 64/13006 57/8600 7/4406 - - - - - - -
?/? c.66T>C r.(=) p.(=) g.90034191T>C Copied from the Exome Variant Server TIGD2_000005 5/13006 0/8600 5/4406 - - - - - - -
?/? c.67_69del r.(?) p.(Glu24del) g.90034192_90034194del Copied from the Exome Variant Server TIGD2_000006 17/12520 15/8254 2/4266 - - - - - - -
?/? c.78C>G r.(?) p.(Ile26Met) g.90034203C>G Copied from the Exome Variant Server TIGD2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.111T>C r.(=) p.(=) g.90034236T>C Copied from the Exome Variant Server TIGD2_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.208T>A r.(?) p.(Ser70Thr) g.90034333T>A Copied from the Exome Variant Server TIGD2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.255G>A r.(=) p.(=) g.90034380G>A Copied from the Exome Variant Server TIGD2_000010 28/13004 26/8600 2/4404 - - - - - - -
?/? c.273A>G r.(=) p.(=) g.90034398A>G Copied from the Exome Variant Server TIGD2_000011 1/13004 1/8598 0/4406 - - - - - - -
?/? c.299C>G r.(?) p.(Thr100Arg) g.90034424C>G Copied from the Exome Variant Server TIGD2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.366G>A r.(=) p.(=) g.90034491G>A Copied from the Exome Variant Server TIGD2_000013 6/12964 0/8594 6/4370 - - - - - - -
?/? c.470G>A r.(?) p.(Gly157Asp) g.90034595G>A Copied from the Exome Variant Server TIGD2_000014 4/12990 4/8600 0/4390 - - - - - - -
?/? c.493A>G r.(?) p.(Lys165Glu) g.90034618A>G Copied from the Exome Variant Server TIGD2_000015 1/13004 1/8598 0/4406 - - - - - - -
?/? c.511G>T r.(?) p.(Glu171*) g.90034636G>T Copied from the Exome Variant Server TIGD2_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.538G>A r.(?) p.(Gly180Arg) g.90034663G>A Copied from the Exome Variant Server TIGD2_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.561A>G r.(=) p.(=) g.90034686A>G Copied from the Exome Variant Server TIGD2_000018 2480/13006 1858/8600 622/4406 - - - - - - -
?/? c.601G>A r.(?) p.(Gly201Arg) g.90034726G>A Copied from the Exome Variant Server TIGD2_000019 1/13004 0/8598 1/4406 - - - - - - -
?/? c.605G>A r.(?) p.(Cys202Tyr) g.90034730G>A Copied from the Exome Variant Server TIGD2_000020 84/13004 0/8598 84/4406 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.90034767C>T Copied from the Exome Variant Server TIGD2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.643G>T r.(?) p.(Ala215Ser) g.90034768G>T Copied from the Exome Variant Server TIGD2_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.681T>C r.(=) p.(=) g.90034806T>C Copied from the Exome Variant Server TIGD2_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.687G>T r.(=) p.(=) g.90034812G>T Copied from the Exome Variant Server TIGD2_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.738T>A r.(=) p.(=) g.90034863T>A Copied from the Exome Variant Server TIGD2_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.801A>G r.(=) p.(=) g.90034926A>G Copied from the Exome Variant Server TIGD2_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.819G>A r.(=) p.(=) g.90034944G>A Copied from the Exome Variant Server TIGD2_000027 2/13006 0/8600 2/4406 - - - - - - -
?/? c.867T>G r.(=) p.(=) g.90034992T>G Copied from the Exome Variant Server TIGD2_000029 1/13002 1/8598 0/4404 - - - - - - -
?/? c.889C>T r.(?) p.(Arg297Cys) g.90035014C>T Copied from the Exome Variant Server TIGD2_000031 1/13004 1/8598 0/4406 - - - - - - -
?/? c.938A>G r.(?) p.(Lys313Arg) g.90035063A>G Copied from the Exome Variant Server TIGD2_000032 21/13004 17/8600 4/4404 - - - - - - -
?/? c.958A>G r.(?) p.(Thr320Ala) g.90035083A>G Copied from the Exome Variant Server TIGD2_000035 6/13006 1/8600 5/4406 - - - - - - -
?/? c.969T>C r.(=) p.(=) g.90035094T>C Copied from the Exome Variant Server TIGD2_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.970C>T r.(?) p.(Gln324*) g.90035095C>T Copied from the Exome Variant Server TIGD2_000039 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1027C>T r.(?) p.(Leu343Phe) g.90035152C>T Copied from the Exome Variant Server TIGD2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1032G>A r.(=) p.(=) g.90035157G>A Copied from the Exome Variant Server TIGD2_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1060A>G r.(?) p.(Lys354Glu) g.90035185A>G Copied from the Exome Variant Server TIGD2_000030 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1091A>T r.(?) p.(Asp364Val) g.90035216A>T Copied from the Exome Variant Server TIGD2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1096A>G r.(?) p.(Ile366Val) g.90035221A>G Copied from the Exome Variant Server TIGD2_000034 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1149A>C r.(?) p.(Lys383Asn) g.90035274A>C Copied from the Exome Variant Server TIGD2_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1199T>C r.(?) p.(Ile400Thr) g.90035324T>C Copied from the Exome Variant Server TIGD2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1223C>A r.(?) p.(Ala408Asp) g.90035348C>A Copied from the Exome Variant Server TIGD2_000041 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1244A>G r.(?) p.(Gln415Arg) g.90035369A>G Copied from the Exome Variant Server TIGD2_000042 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1273A>G r.(?) p.(Ile425Val) g.90035398A>G Copied from the Exome Variant Server TIGD2_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1282A>G r.(?) p.(Ile428Val) g.90035407A>G Copied from the Exome Variant Server TIGD2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1284T>C r.(=) p.(=) g.90035409T>C Copied from the Exome Variant Server TIGD2_000045 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1303C>T r.(?) p.(Arg435Trp) g.90035428C>T Copied from the Exome Variant Server TIGD2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1333A>G r.(?) p.(Thr445Ala) g.90035458A>G Copied from the Exome Variant Server TIGD2_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1345A>C r.(?) p.(Ser449Arg) g.90035470A>C Copied from the Exome Variant Server TIGD2_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1383T>G r.(=) p.(=) g.90035508T>G Copied from the Exome Variant Server TIGD2_000049 75/13006 0/8600 75/4406 - - - - - - -
?/? c.1424A>G r.(?) p.(His475Arg) g.90035549A>G Copied from the Exome Variant Server TIGD2_000050 1713/13006 1522/8600 191/4406 - - - - - - -
?/? c.1572T>G r.(?) p.(Asn524Lys) g.90035697T>G Copied from the Exome Variant Server TIGD2_000051 2/12990 0/8590 2/4400 - - - - - - -
?/? c.*43A>G r.(=) p.(=) g.90035746A>G Copied from the Exome Variant Server TIGD2_000052 2/12642 0/8462 2/4180 - - - - - - -
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