All transcript variants in gene GDI1

Information The variants shown are described using the NM_001493.2 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     
?/? c.-74_-73insGGCGGT r.(=) p.(=) g.153665527_153665528insGGCGGT Copied from the Exome Variant Server GDI1_000051 25/7352 16/4724 9/2628
?/? c.-46G>A r.(=) p.(=) g.153665555G>A Copied from the Exome Variant Server GDI1_000071 11/10514 11/6709 0/3805
?/? c.-44_-42del r.(=) p.(=) g.153665557_153665559del Copied from the Exome Variant Server GDI1_000072 56/10134 36/6450 20/3684
?/? c.-30C>T r.(=) p.(=) g.153665571C>T Copied from the Exome Variant Server GDI1_000073 5/10537 5/6716 0/3821
?/? c.-13C>T r.(=) p.(=) g.153665588C>T Copied from the Exome Variant Server GDI1_000074 3/10554 0/6725 3/3829
?/? c.45+13C>T r.(=) p.(=) g.153665658C>T Copied from the Exome Variant Server GDI1_000075 2/10560 2/6728 0/3832
?/? c.45+27C>T r.(=) p.(=) g.153665672C>T Copied from the Exome Variant Server GDI1_000052 1/10549 1/6723 0/3826
?/? c.46-51G>C r.(=) p.(=) g.153666818G>C Copied from the Exome Variant Server GDI1_000053 1/10557 1/6724 0/3833
?/? c.46-11C>A r.(=) p.(=) g.153666858C>A Copied from the Exome Variant Server GDI1_000054 20/10562 0/6727 20/3835
?/? c.136A>G r.(?) p.(Ile46Val) g.153666959A>G Copied from the Exome Variant Server GDI1_000055 1/10563 1/6728 0/3835
?/? c.153+49G>A r.(=) p.(=) g.153667025G>A Copied from the Exome Variant Server GDI1_000001 5/10563 0/6728 5/3835
?/? c.153+51C>T r.(=) p.(=) g.153667027C>T Copied from the Exome Variant Server GDI1_000002 1/10563 1/6728 0/3835
?/? c.154-28T>C r.(=) p.(=) g.153667083T>C Copied from the Exome Variant Server GDI1_000003 297/10563 3/6728 294/3835
?/? c.154-25C>T r.(=) p.(=) g.153667086C>T Copied from the Exome Variant Server GDI1_000004 1/10563 1/6728 0/3835
?/? c.154-23C>G r.(=) p.(=) g.153667088C>G Copied from the Exome Variant Server GDI1_000005 1/10563 0/6728 1/3835
?/? c.154-15C>T r.(=) p.(=) g.153667096C>T Copied from the Exome Variant Server GDI1_000006 2/10563 2/6728 0/3835
?/? c.154-4A>G r.spl? p.? g.153667107A>G Copied from the Exome Variant Server GDI1_000007 1/10563 1/6728 0/3835
?/? c.154-3C>T r.spl? p.? g.153667108C>T Copied from the Exome Variant Server GDI1_000008 63/10563 57/6728 6/3835
?/? c.195G>T r.(=) p.(=) g.153667152G>T Copied from the Exome Variant Server GDI1_000009 1/10563 1/6728 0/3835
?/? c.219T>C r.(=) p.(=) g.153667176T>C Copied from the Exome Variant Server GDI1_000010 3272/10563 864/6728 2408/3835
?/? c.226C>G r.(?) p.(Leu76Val) g.153667183C>G Copied from the Exome Variant Server GDI1_000011 1/10563 1/6728 0/3835
?/? c.253+24G>A r.(=) p.(=) g.153667234G>A Copied from the Exome Variant Server GDI1_000012 1/10563 1/6728 0/3835
?/? c.324C>T r.(=) p.(=) g.153667422C>T Copied from the Exome Variant Server GDI1_000013 3/10563 2/6728 1/3835
?/? c.330C>T r.(=) p.(=) g.153667428C>T Copied from the Exome Variant Server GDI1_000014 1/10563 0/6728 1/3835
?/? c.383C>G r.(?) p.(Ala128Gly) g.153667481C>G Copied from the Exome Variant Server GDI1_000015 1/10563 0/6728 1/3835
?/? c.432G>A r.(=) p.(=) g.153668331G>A Copied from the Exome Variant Server GDI1_000016 1/10563 0/6728 1/3835
?/? c.450C>T r.(=) p.(=) g.153668349C>T Copied from the Exome Variant Server GDI1_000017 12/10563 0/6728 12/3835
?/? c.480C>T r.(=) p.(=) g.153668379C>T Copied from the Exome Variant Server GDI1_000018 2/10563 0/6728 2/3835
?/? c.587+35C>T r.(=) p.(=) g.153668521C>T Copied from the Exome Variant Server GDI1_000019 1/10563 0/6728 1/3835
?/? c.587+36C>T r.(=) p.(=) g.153668522C>T Copied from the Exome Variant Server GDI1_000020 2/10563 2/6728 0/3835
?/? c.588-22_588-21del r.(=) p.(=) g.153668700_153668701del Copied from the Exome Variant Server GDI1_000021 1/10205 0/6484 1/3721
?/? c.681G>A r.(=) p.(=) g.153668815G>A Copied from the Exome Variant Server GDI1_000022 1/10563 1/6728 0/3835
?/? c.684C>G r.(=) p.(=) g.153668818C>G Copied from the Exome Variant Server GDI1_000023 1/10563 1/6728 0/3835
?/? c.696C>T r.(=) p.(=) g.153668830C>T Copied from the Exome Variant Server GDI1_000024 4/10563 2/6728 2/3835
?/? c.719+11G>C r.(=) p.(=) g.153668864G>C Copied from the Exome Variant Server GDI1_000025 1/10563 1/6728 0/3835
?/? c.719+41A>C r.(=) p.(=) g.153668894A>C Copied from the Exome Variant Server GDI1_000056 1/10563 0/6728 1/3835
?/? c.720-44_720-43insT r.(=) p.(=) g.153669399_153669400insT Copied from the Exome Variant Server GDI1_000057 1/10205 0/6484 1/3721
?/? c.771C>T r.(=) p.(=) g.153669494C>T Copied from the Exome Variant Server GDI1_000026 8/10563 8/6728 0/3835
?/? c.804G>T r.(=) p.(=) g.153669527G>T Copied from the Exome Variant Server GDI1_000027 1/10563 1/6728 0/3835
?/? c.819+12C>T r.(=) p.(=) g.153669554C>T Copied from the Exome Variant Server GDI1_000028 2/10563 0/6728 2/3835
?/? c.820-29_820-28del r.(=) p.(=) g.153669941_153669942del Copied from the Exome Variant Server GDI1_000029 1/10205 0/6484 1/3721
?/? c.833A>G r.(?) p.(Lys278Arg) g.153669983A>G Copied from the Exome Variant Server GDI1_000030 1/10563 1/6728 0/3835
?/? c.909C>T r.(=) p.(=) g.153670059C>T Copied from the Exome Variant Server GDI1_000031 2/10563 0/6728 2/3835
?/? c.939C>T r.(=) p.(=) g.153670089C>T Copied from the Exome Variant Server GDI1_000032 1/10563 1/6728 0/3835
?/? c.991+7C>T r.(=) p.(=) g.153670148C>T Copied from the Exome Variant Server GDI1_000033 2/10563 0/6728 2/3835
?/? c.991+15G>A r.(=) p.(=) g.153670156G>A Copied from the Exome Variant Server GDI1_000034 3/10562 0/6728 3/3834
?/? c.991+32G>A r.(=) p.(=) g.153670173G>A Copied from the Exome Variant Server GDI1_000035 5/10563 4/6728 1/3835
?/? c.991+51C>T r.(=) p.(=) g.153670192C>T Copied from the Exome Variant Server GDI1_000036 1/10563 0/6728 1/3835
?/? c.992-39G>T r.(=) p.(=) g.153670419G>T Copied from the Exome Variant Server GDI1_000037 1/10563 0/6728 1/3835
?/? c.992-21C>T r.(=) p.(=) g.153670437C>T Copied from the Exome Variant Server GDI1_000038 2/10563 0/6728 2/3835
?/? c.992-19G>C r.(=) p.(=) g.153670439G>C Copied from the Exome Variant Server GDI1_000039 1/10563 1/6728 0/3835
?/? c.992-17G>C r.(=) p.(=) g.153670441G>C Copied from the Exome Variant Server GDI1_000040 3/10563 0/6728 3/3835
?/? c.992-10C>T r.(=) p.(=) g.153670448C>T Copied from the Exome Variant Server GDI1_000041 339/10563 0/6728 339/3835
?/? c.992-8G>A r.(=) p.(=) g.153670450G>A Copied from the Exome Variant Server GDI1_000042 1/10563 1/6728 0/3835
?/? c.1026C>T r.(=) p.(=) g.153670492C>T Copied from the Exome Variant Server GDI1_000043 1/10563 0/6728 1/3835
?/? c.1078A>G r.(?) p.(Thr360Ala) g.153670544A>G Copied from the Exome Variant Server GDI1_000044 2/10563 2/6728 0/3835
?/? c.1136+12G>A r.(=) p.(=) g.153670614G>A Copied from the Exome Variant Server GDI1_000045 1/10563 0/6728 1/3835
?/? c.1136+13G>A r.(=) p.(=) g.153670615G>A Copied from the Exome Variant Server GDI1_000046 1/10563 1/6728 0/3835
?/? c.1136+22A>G r.(=) p.(=) g.153670624A>G Copied from the Exome Variant Server GDI1_000047 1/10563 1/6728 0/3835
?/? c.1136+46C>T r.(=) p.(=) g.153670648C>T Copied from the Exome Variant Server GDI1_000048 5/10563 1/6728 4/3835
?/? c.1137-20C>T r.(=) p.(=) g.153670701C>T Copied from the Exome Variant Server GDI1_000049 1/10563 1/6728 0/3835
?/? c.1137-5_1137-4insTCA r.spl? p.? g.153670716_153670717insTCA Copied from the Exome Variant Server GDI1_000050 1/10205 1/6484 0/3721
?/? c.1137G>A r.(=) p.(=) g.153670721G>A Copied from the Exome Variant Server GDI1_000058 1/10563 1/6728 0/3835
?/? c.1167C>T r.(=) p.(=) g.153670751C>T Copied from the Exome Variant Server GDI1_000059 2/10563 2/6728 0/3835
?/? c.1191+11C>T r.(=) p.(=) g.153670786C>T Copied from the Exome Variant Server GDI1_000060 1/10563 0/6728 1/3835
?/? c.1191+38C>T r.(=) p.(=) g.153670813C>T Copied from the Exome Variant Server GDI1_000061 1/10563 0/6728 1/3835
?/? c.1203C>G r.(=) p.(=) g.153670878C>G Copied from the Exome Variant Server GDI1_000062 1/10563 0/6728 1/3835
?/? c.1212C>T r.(=) p.(=) g.153670887C>T Copied from the Exome Variant Server GDI1_000063 1/10563 0/6728 1/3835
?/? c.1227C>G r.(?) p.(His409Gln) g.153670902C>G Copied from the Exome Variant Server GDI1_000064 1/10563 1/6728 0/3835
?/? c.1280C>T r.(?) p.(Thr427Met) g.153670955C>T Copied from the Exome Variant Server GDI1_000065 1/10563 0/6728 1/3835
?/? c.1319A>T r.(?) p.(Asp440Val) g.153670994A>T Copied from the Exome Variant Server GDI1_000066 1/10563 1/6728 0/3835
?/? c.1320C>T r.(=) p.(=) g.153670995C>T Copied from the Exome Variant Server GDI1_000067 1/10563 1/6728 0/3835
?/? c.*18C>T r.(=) p.(=) g.153671037C>T Copied from the Exome Variant Server GDI1_000068 2/10563 0/6728 2/3835
?/? c.*46C>T r.(=) p.(=) g.153671065C>T Copied from the Exome Variant Server GDI1_000069 31/10563 28/6728 3/3835
?/? c.*48T>C r.(=) p.(=) g.153671067T>C Copied from the Exome Variant Server GDI1_000070 204/10563 1/6728 203/3835
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