All transcript variants in gene OSBPL7

Information The variants shown are described using the NM_145798.2 transcript reference sequence.

184 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-36C>A r.(=) p.(=) g.45897680G>T Copied from the Exome Variant Server OSBPL7_000180 2/13006 0/8600 2/4406
?/? c.23C>T r.(?) p.(Pro8Leu) g.45897622G>A Copied from the Exome Variant Server OSBPL7_000177 1/13006 1/8600 0/4406
?/? c.42C>T r.(=) p.(=) g.45897603G>A Copied from the Exome Variant Server OSBPL7_000176 2/13006 1/8600 1/4406
?/? c.43G>T r.(?) p.(Ala15Ser) g.45897602C>A Copied from the Exome Variant Server OSBPL7_000174 1/13006 0/8600 1/4406
?/? c.60C>T r.(=) p.(=) g.45897585G>A Copied from the Exome Variant Server OSBPL7_000172 3/13006 0/8600 3/4406
?/? c.63C>T r.(=) p.(=) g.45897582G>A Copied from the Exome Variant Server OSBPL7_000169 131/13006 0/8600 131/4406
?/? c.75+18C>T r.(=) p.(=) g.45897552G>A Copied from the Exome Variant Server OSBPL7_000167 1/13006 0/8600 1/4406
?/? c.75+39G>T r.(=) p.(=) g.45897531C>A Copied from the Exome Variant Server OSBPL7_000165 10613/13006 7742/8600 2871/4406
?/? c.76-43G>A r.(=) p.(=) g.45897505C>T Copied from the Exome Variant Server OSBPL7_000163 3/13006 2/8600 1/4406
?/? c.76-40C>T r.(=) p.(=) g.45897502G>A Copied from the Exome Variant Server OSBPL7_000161 341/13006 17/8600 324/4406
?/? c.76-14G>A r.(=) p.(=) g.45897476C>T Copied from the Exome Variant Server OSBPL7_000159 1/13006 1/8600 0/4406
?/? c.76-6C>T r.(=) p.(=) g.45897468G>A Copied from the Exome Variant Server OSBPL7_000184 1/13006 0/8600 1/4406
?/? c.97G>A r.(?) p.(Val33Met) g.45897441C>T Copied from the Exome Variant Server OSBPL7_000183 3/13006 3/8600 0/4406
?/? c.109C>T r.(?) p.(Arg37Trp) g.45897429G>A Copied from the Exome Variant Server OSBPL7_000182 1/13006 1/8600 0/4406
?/? c.147G>A r.(=) p.(=) g.45897391C>T Copied from the Exome Variant Server OSBPL7_000181 1/13006 1/8600 0/4406
?/? c.201+13G>C r.(=) p.(=) g.45897324C>G Copied from the Exome Variant Server OSBPL7_000179 1/12988 0/8584 1/4404
?/? c.201+40G>T r.(=) p.(=) g.45897297C>A Copied from the Exome Variant Server OSBPL7_000178 1/12696 0/8374 1/4322
?/? c.202-71del r.(=) p.(=) g.45897219del Copied from the Exome Variant Server OSBPL7_000175 3/12518 0/8254 3/4264
?/? c.255C>T r.(=) p.(=) g.45897095G>A Copied from the Exome Variant Server OSBPL7_000173 1/13006 1/8600 0/4406
?/? c.255+7C>G r.(=) p.(=) g.45897088G>C Copied from the Exome Variant Server OSBPL7_000171 48/13006 44/8600 4/4406
?/? c.255+8C>T r.(=) p.(=) g.45897087G>A Copied from the Exome Variant Server OSBPL7_000170 3/13006 2/8600 1/4406
?/? c.256-31C>T r.(=) p.(=) g.45896496G>A Copied from the Exome Variant Server OSBPL7_000168 10/13006 10/8600 0/4406
?/? c.256-13A>G r.(=) p.(=) g.45896478T>C Copied from the Exome Variant Server OSBPL7_000166 10614/13006 7733/8600 2881/4406
?/? c.256-7C>T r.(=) p.(=) g.45896472G>A Copied from the Exome Variant Server OSBPL7_000164 47/13006 40/8600 7/4406
?/? c.256A>C r.(?) p.(Ile86Leu) g.45896465T>G Copied from the Exome Variant Server OSBPL7_000162 1/13006 0/8600 1/4406
?/? c.258C>T r.(=) p.(=) g.45896463G>A Copied from the Exome Variant Server OSBPL7_000160 2/13006 2/8600 0/4406
?/? c.282C>A r.(=) p.(=) g.45896439G>T Copied from the Exome Variant Server OSBPL7_000158 1/13006 1/8600 0/4406
?/? c.291C>G r.(=) p.(=) g.45896430G>C Copied from the Exome Variant Server OSBPL7_000157 2/13006 0/8600 2/4406
?/? c.311T>C r.(?) p.(Ile104Thr) g.45896410A>G Copied from the Exome Variant Server OSBPL7_000156 1/13006 0/8600 1/4406
?/? c.328C>T r.(?) p.(Arg110Cys) g.45896393G>A Copied from the Exome Variant Server OSBPL7_000155 1/13006 0/8600 1/4406
?/? c.359A>G r.(?) p.(Tyr120Cys) g.45896362T>C Copied from the Exome Variant Server OSBPL7_000154 2/13006 1/8600 1/4406
?/? c.369+23C>T r.(=) p.(=) g.45896329G>A Copied from the Exome Variant Server OSBPL7_000153 2/13006 1/8600 1/4406
?/? c.370-19C>G r.(=) p.(=) g.45896001G>C Copied from the Exome Variant Server OSBPL7_000152 2/12988 0/8592 2/4396
?/? c.404C>T r.(?) p.(Ala135Val) g.45895948G>A Copied from the Exome Variant Server OSBPL7_000151 1/13000 1/8596 0/4404
?/? c.405G>A r.(=) p.(=) g.45895947C>T Copied from the Exome Variant Server OSBPL7_000150 2/13002 1/8598 1/4404
?/? c.421C>T r.(?) p.(Arg141Cys) g.45895931G>A Copied from the Exome Variant Server OSBPL7_000149 6/13004 6/8600 0/4404
?/? c.426A>T r.(=) p.(=) g.45895926T>A Copied from the Exome Variant Server OSBPL7_000148 1/13006 1/8600 0/4406
?/? c.430C>T r.(?) p.(His144Tyr) g.45895922G>A Copied from the Exome Variant Server OSBPL7_000147 1/13006 1/8600 0/4406
?/? c.433C>T r.(?) p.(Arg145Cys) g.45895919G>A Copied from the Exome Variant Server OSBPL7_000146 1/13006 0/8600 1/4406
?/? c.434G>A r.(?) p.(Arg145His) g.45895918C>T Copied from the Exome Variant Server OSBPL7_000145 1/13006 0/8600 1/4406
?/? c.447C>T r.(=) p.(=) g.45895905G>A Copied from the Exome Variant Server OSBPL7_000144 35/13004 3/8600 32/4404
?/? c.450T>A r.(=) p.(=) g.45895902A>T Copied from the Exome Variant Server OSBPL7_000143 1/13004 0/8600 1/4404
?/? c.461C>T r.(?) p.(Pro154Leu) g.45895891G>A Copied from the Exome Variant Server OSBPL7_000142 1/13006 0/8600 1/4406
?/? c.462C>T r.(=) p.(=) g.45895890G>A Copied from the Exome Variant Server OSBPL7_000141 1/13006 1/8600 0/4406
?/? c.467C>T r.(?) p.(Thr156Ile) g.45895885G>A Copied from the Exome Variant Server OSBPL7_000140 117/13006 0/8600 117/4406
?/? c.476G>A r.(?) p.(Arg159Gln) g.45895876C>T Copied from the Exome Variant Server OSBPL7_000139 1/13006 0/8600 1/4406
?/? c.480+52G>A r.(=) p.(=) g.45895820C>T Copied from the Exome Variant Server OSBPL7_000138 1/5734 0/3982 1/1752
?/? c.541C>T r.(?) p.(Arg181Trp) g.45895692G>A Copied from the Exome Variant Server OSBPL7_000137 49/13006 44/8600 5/4406
?/? c.542G>A r.(?) p.(Arg181Gln) g.45895691C>T Copied from the Exome Variant Server OSBPL7_000136 2/13006 0/8600 2/4406
?/? c.598+17G>A r.(=) p.(=) g.45895618C>T Copied from the Exome Variant Server OSBPL7_000135 1/13006 1/8600 0/4406
?/? c.599-52G>A r.(=) p.(=) g.45894777C>T Copied from the Exome Variant Server OSBPL7_000134 469/7272 133/4618 336/2654
?/? c.599-10T>C r.(=) p.(=) g.45894735A>G Copied from the Exome Variant Server OSBPL7_000133 11884/13006 8151/8600 3733/4406
?/? c.599-5C>T r.spl? p.? g.45894730G>A Copied from the Exome Variant Server OSBPL7_000132 1/13006 0/8600 1/4406
?/? c.643C>A r.(?) p.(Leu215Ile) g.45894681G>T Copied from the Exome Variant Server OSBPL7_000131 20/13006 0/8600 20/4406
?/? c.666C>T r.(=) p.(=) g.45894658G>A Copied from the Exome Variant Server OSBPL7_000130 2/13006 2/8600 0/4406
?/? c.696A>G r.(=) p.(=) g.45894628T>C Copied from the Exome Variant Server OSBPL7_000129 1/13006 1/8600 0/4406
?/? c.703-28T>G r.(=) p.(=) g.45894266A>C Copied from the Exome Variant Server OSBPL7_000128 1/13006 1/8600 0/4406
?/? c.703G>A r.(?) p.(Ala235Thr) g.45894238C>T Copied from the Exome Variant Server OSBPL7_000127 1/13006 0/8600 1/4406
?/? c.739_744del r.(?) p.(Arg247_Thr248del) g.45894197_45894202del Copied from the Exome Variant Server OSBPL7_000126 20/12518 17/8254 3/4264
?/? c.794G>A r.(?) p.(Arg265Gln) g.45894147C>T Copied from the Exome Variant Server OSBPL7_000125 2/13006 2/8600 0/4406
?/? c.795+8C>T r.(=) p.(=) g.45894138G>A Copied from the Exome Variant Server OSBPL7_000124 11/13006 4/8600 7/4406
?/? c.795+9G>A r.(=) p.(=) g.45894137C>T Copied from the Exome Variant Server OSBPL7_000123 1/13006 1/8600 0/4406
?/? c.795+23C>T r.(=) p.(=) g.45894123G>A Copied from the Exome Variant Server OSBPL7_000122 1/13006 1/8600 0/4406
?/? c.795+27G>A r.(=) p.(=) g.45894119C>T Copied from the Exome Variant Server OSBPL7_000121 207/13006 3/8600 204/4406
?/? c.795+33G>A r.(=) p.(=) g.45894113C>T Copied from the Exome Variant Server OSBPL7_000120 2/13006 0/8600 2/4406
?/? c.796-32C>T r.(=) p.(=) g.45894093G>A Copied from the Exome Variant Server OSBPL7_000119 1/13006 1/8600 0/4406
?/? c.796-4A>G r.spl? p.? g.45894065T>C Copied from the Exome Variant Server OSBPL7_000118 1/13006 1/8600 0/4406
?/? c.802C>T r.(?) p.(Arg268Cys) g.45894055G>A Copied from the Exome Variant Server OSBPL7_000117 1/13006 1/8600 0/4406
?/? c.803G>A r.(?) p.(Arg268His) g.45894054C>T Copied from the Exome Variant Server OSBPL7_000116 2/13006 2/8600 0/4406
?/? c.833G>A r.(?) p.(Arg278His) g.45894024C>T Copied from the Exome Variant Server OSBPL7_000115 1/13006 1/8600 0/4406
?/? c.848G>A r.(?) p.(Arg283Gln) g.45894009C>T Copied from the Exome Variant Server OSBPL7_000114 1/13006 1/8600 0/4406
?/? c.878C>T r.(?) p.(Pro293Leu) g.45893979G>A Copied from the Exome Variant Server OSBPL7_000112 3/13006 3/8600 0/4406
?/? c.900G>A r.(=) p.(=) g.45893957C>T Copied from the Exome Variant Server OSBPL7_000110 3/13004 3/8600 0/4404
?/? c.928+25G>A r.(=) p.(=) g.45893904C>T Copied from the Exome Variant Server OSBPL7_000107 64/12994 12/8592 52/4402
?/? c.928+34G>A r.(=) p.(=) g.45893895C>T Copied from the Exome Variant Server OSBPL7_000105 344/12990 282/8590 62/4400
?/? c.929-20G>A r.(=) p.(=) g.45893868C>T Copied from the Exome Variant Server OSBPL7_000103 1/12970 1/8582 0/4388
?/? c.929-14C>T r.(=) p.(=) g.45893862G>A Copied from the Exome Variant Server OSBPL7_000101 3726/12976 3230/8582 496/4394
?/? c.949G>A r.(?) p.(Val317Ile) g.45893828C>T Copied from the Exome Variant Server OSBPL7_000099 1/12962 0/8566 1/4396
?/? c.957C>T r.(=) p.(=) g.45893820G>A Copied from the Exome Variant Server OSBPL7_000097 1/12962 0/8568 1/4394
?/? c.1023+31G>A r.(=) p.(=) g.45893723C>T Copied from the Exome Variant Server OSBPL7_000095 3/12476 1/8286 2/4190
?/? c.1024-20C>T r.(=) p.(=) g.45893588G>A Copied from the Exome Variant Server OSBPL7_000094 111/11976 101/7930 10/4046
?/? c.1052G>A r.(?) p.(Arg351His) g.45893540C>T Copied from the Exome Variant Server OSBPL7_000092 1/12274 1/8094 0/4180
?/? c.1077C>T r.(=) p.(=) g.45893515G>A Copied from the Exome Variant Server OSBPL7_000090 1/12272 1/8084 0/4188
?/? c.1086G>A r.(=) p.(=) g.45893506C>T Copied from the Exome Variant Server OSBPL7_000087 1/12210 0/8052 1/4158
?/? c.1094C>G r.(?) p.(Ser365Cys) g.45893498G>C Copied from the Exome Variant Server OSBPL7_000084 3/12126 2/7990 1/4136
?/? c.1119+29C>T r.(=) p.(=) g.45893444G>A Copied from the Exome Variant Server OSBPL7_000081 3/10780 2/7034 1/3746
?/? c.1119+42C>T r.(=) p.(=) g.45893431G>A Copied from the Exome Variant Server OSBPL7_000113 2/10586 0/6890 2/3696
?/? c.1140G>A r.(=) p.(=) g.45892698C>T Copied from the Exome Variant Server OSBPL7_000111 1/13006 0/8600 1/4406
?/? c.1146C>T r.(=) p.(=) g.45892692G>A Copied from the Exome Variant Server OSBPL7_000109 1/13006 1/8600 0/4406
?/? c.1147G>A r.(?) p.(Glu383Lys) g.45892691C>T Copied from the Exome Variant Server OSBPL7_000108 1/13006 1/8600 0/4406
?/? c.1154C>T r.(?) p.(Thr385Ile) g.45892684G>A Copied from the Exome Variant Server OSBPL7_000106 1/13006 1/8600 0/4406
?/? c.1156C>T r.(?) p.(Pro386Ser) g.45892682G>A Copied from the Exome Variant Server OSBPL7_000104 1/13006 0/8600 1/4406
?/? c.1157C>T r.(?) p.(Pro386Leu) g.45892681G>A Copied from the Exome Variant Server OSBPL7_000102 1/13006 0/8600 1/4406
?/? c.1159C>A r.(?) p.(Gln387Lys) g.45892679G>T Copied from the Exome Variant Server OSBPL7_000100 79/13006 0/8600 79/4406
?/? c.1167G>A r.(=) p.(=) g.45892671C>T Copied from the Exome Variant Server OSBPL7_000098 1/13006 1/8600 0/4406
?/? c.1198C>T r.(?) p.(His400Tyr) g.45892640G>A Copied from the Exome Variant Server OSBPL7_000096 1/13006 1/8600 0/4406
?/? c.1202C>T r.(?) p.(Thr401Met) g.45892636G>A Copied from the Exome Variant Server OSBPL7_000093 2/13006 1/8600 1/4406
?/? c.1206G>A r.(=) p.(=) g.45892632C>T Copied from the Exome Variant Server OSBPL7_000091 1/13006 1/8600 0/4406
?/? c.1225G>T r.(?) p.(Val409Phe) g.45892613C>A Copied from the Exome Variant Server OSBPL7_000089 1/13006 0/8600 1/4406
?/? c.1257+31G>C r.(=) p.(=) g.45892550C>G Copied from the Exome Variant Server OSBPL7_000086 25/13004 0/8598 25/4406
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