Full data view for gene GTF3C6

Information The variants shown are described using the NM_138408.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-48C>T r.(=) p.(=) g.111279925C>T Copied from the Exome Variant Server GTF3C6_000001 104/10888 0/7238 104/3650 - - - - - - -
?/? c.-25_-24insT r.(=) p.(=) g.111279948_111279949insT Copied from the Exome Variant Server GTF3C6_000002 7/10664 0/7110 7/3554 - - - - - - -
?/? c.-19G>A r.(=) p.(=) g.111279954G>A Copied from the Exome Variant Server GTF3C6_000003 2/11352 0/7568 2/3784 - - - - - - -
?/? c.-9C>T r.(=) p.(=) g.111279964C>T Copied from the Exome Variant Server GTF3C6_000004 4/11416 0/7590 4/3826 - - - - - - -
?/? c.1A>G r.? p.? g.111279973A>G Copied from the Exome Variant Server GTF3C6_000005 1/11498 1/7648 0/3850 - - - - - - -
?/? c.3_5del r.(?) p.(Ala5del) g.111279975_111279977del Copied from the Exome Variant Server GTF3C6_000007 111/9780 71/6510 40/3270 - - - - - - -
?/? c.3_5dup r.(?) p.(Ala5dup) g.111279975_111279977dup Copied from the Exome Variant Server GTF3C6_000006 8/9780 6/6510 2/3270 - - - - - - -
?/? c.57+9C>T r.(=) p.(=) g.111280038C>T Copied from the Exome Variant Server GTF3C6_000008 212/11974 170/7940 42/4034 - - - - - - -
?/? c.57+38C>T r.(=) p.(=) g.111280067C>T Copied from the Exome Variant Server GTF3C6_000009 1/11604 0/7672 1/3932 - - - - - - -
?/? c.58-50C>T r.(=) p.(=) g.111280325C>T Copied from the Exome Variant Server GTF3C6_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.58-43G>C r.(=) p.(=) g.111280332G>C Copied from the Exome Variant Server GTF3C6_000011 2149/13006 1023/8600 1126/4406 - - - - - - -
?/? c.138+16del r.(=) p.(=) g.111280471del Copied from the Exome Variant Server GTF3C6_000012 639/12518 208/8254 431/4264 - - - - - - -
?/? c.138+35G>A r.(=) p.(=) g.111280490G>A Copied from the Exome Variant Server GTF3C6_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.138+41_138+46del r.(=) p.(=) g.111280496_111280501del Copied from the Exome Variant Server GTF3C6_000014 8/12512 7/8252 1/4260 - - - - - - -
?/? c.139-59C>T r.(=) p.(=) g.111281558C>T Copied from the Exome Variant Server GTF3C6_000015 1/4566 1/3182 0/1384 - - - - - - -
?/? c.139-47C>G r.(=) p.(=) g.111281570C>G Copied from the Exome Variant Server GTF3C6_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.139-43T>C r.(=) p.(=) g.111281574T>C Copied from the Exome Variant Server GTF3C6_000017 2/13006 1/8600 1/4406 - - - - - - -
?/? c.139-33_139-32insA r.(=) p.(=) g.111281584_111281585insA Copied from the Exome Variant Server GTF3C6_000018 6/12518 2/8254 4/4264 - - - - - - -
?/? c.139-32del r.(=) p.(=) g.111281585del Copied from the Exome Variant Server GTF3C6_000020 2920/12518 1576/8254 1344/4264 - - - - - - -
?/? c.139-32dup r.(=) p.(=) g.111281585dup Copied from the Exome Variant Server GTF3C6_000019 394/12518 342/8254 52/4264 - - - - - - -
?/? c.160A>G r.(?) p.(Ile54Val) g.111281638A>G Copied from the Exome Variant Server GTF3C6_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.178_179del r.(?) p.(Val61Leufs*6) g.111281656_111281657del Copied from the Exome Variant Server GTF3C6_000022 11/12518 3/8254 8/4264 - - - - - - -
?/? c.202+11G>T r.(=) p.(=) g.111281691G>T Copied from the Exome Variant Server GTF3C6_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.202+38T>C r.(=) p.(=) g.111281718T>C Copied from the Exome Variant Server GTF3C6_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.203-29C>G r.(=) p.(=) g.111281746C>G Copied from the Exome Variant Server GTF3C6_000025 2/13006 0/8600 2/4406 - - - - - - -
?/? c.203-2A>G r.spl? p.? g.111281773A>G Copied from the Exome Variant Server GTF3C6_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.247+18C>T r.(=) p.(=) g.111281837C>T Copied from the Exome Variant Server GTF3C6_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.247+29A>G r.(=) p.(=) g.111281848A>G Copied from the Exome Variant Server GTF3C6_000028 5/13006 4/8600 1/4406 - - - - - - -
?/? c.247+33C>T r.(=) p.(=) g.111281852C>T Copied from the Exome Variant Server GTF3C6_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.247+34G>C r.(=) p.(=) g.111281853G>C Copied from the Exome Variant Server GTF3C6_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.247+61_247+62insTAAATAT r.(=) p.(=) g.111281880_111281881insTAAATAT Copied from the Exome Variant Server GTF3C6_000031 2722/12512 1472/8254 1250/4258 - - - - - - -
?/? c.247+68T>G r.(=) p.(=) g.111281887T>G Copied from the Exome Variant Server GTF3C6_000032 2/4566 2/3182 0/1384 - - - - - - -
?/? c.248-27T>C r.(=) p.(=) g.111283568T>C Copied from the Exome Variant Server GTF3C6_000033 1/13004 1/8600 0/4404 - - - - - - -
?/? c.248-3C>T r.spl? p.? g.111283592C>T Copied from the Exome Variant Server GTF3C6_000034 2956/13006 1596/8600 1360/4406 - - - - - - -
?/? c.290G>T r.(?) p.(Cys97Phe) g.111283637G>T Copied from the Exome Variant Server GTF3C6_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.327C>A r.(=) p.(=) g.111283674C>A Copied from the Exome Variant Server GTF3C6_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.337A>T r.(?) p.(Lys113*) g.111283684A>T Copied from the Exome Variant Server GTF3C6_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349G>A r.(?) p.(Glu117Lys) g.111283696G>A Copied from the Exome Variant Server GTF3C6_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.361+10A>C r.(=) p.(=) g.111283718A>C Copied from the Exome Variant Server GTF3C6_000039 2949/13006 1592/8600 1357/4406 - - - - - - -
?/? c.362-38del r.(=) p.(=) g.111288675del Copied from the Exome Variant Server GTF3C6_000040 1/12238 1/8108 0/4130 - - - - - - -
?/? c.362-35C>A r.(=) p.(=) g.111288678C>A Copied from the Exome Variant Server GTF3C6_000041 1/12792 0/8482 1/4310 - - - - - - -
?/? c.396T>C r.(=) p.(=) g.111288747T>C Copied from the Exome Variant Server GTF3C6_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.429T>C r.(=) p.(=) g.111288780T>C Copied from the Exome Variant Server GTF3C6_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.525del r.(?) p.(Leu176*) g.111288876del Copied from the Exome Variant Server GTF3C6_000044 37/12518 22/8254 15/4264 - - - - - - -
?/? c.544_548del r.(?) p.(Lys182Asnfs*13) g.111288895_111288899del Copied from the Exome Variant Server GTF3C6_000045 489/12518 295/8254 194/4264 - - - - - - -
?/? c.551T>C r.(?) p.(Met184Thr) g.111288902T>C Copied from the Exome Variant Server GTF3C6_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.590T>C r.(?) p.(Ile197Thr) g.111288941T>C Copied from the Exome Variant Server GTF3C6_000047 366/13006 326/8600 40/4406 - - - - - - -
?/? c.607G>T r.(?) p.(Gly203Cys) g.111288958G>T Copied from the Exome Variant Server GTF3C6_000048 4/13006 0/8600 4/4406 - - - - - - -
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