Unique variants in gene SPOCD1

Information The variants shown are described using the NM_144569.4 transcript reference sequence.

178 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-35C>T r.(=) p.(=) g.32280969G>A Copied from the Exome Variant Server SPOCD1_000177 1/12938 0/8550 1/4388
1 c.134C>G r.(?) p.(Ala45Gly) g.32280801G>C Copied from the Exome Variant Server SPOCD1_000176 3/13006 3/8600 0/4406
1 c.147C>T r.(=) p.(=) g.32280788G>A Copied from the Exome Variant Server SPOCD1_000175 1/13006 0/8600 1/4406
1 c.148G>A r.(?) p.(Gly50Arg) g.32280787C>T Copied from the Exome Variant Server SPOCD1_000174 6/13006 6/8600 0/4406
1 c.180C>A r.(=) p.(=) g.32280755G>T Copied from the Exome Variant Server SPOCD1_000173 2/13006 0/8600 2/4406
1 c.190G>C r.(?) p.(Ala64Pro) g.32280745C>G Copied from the Exome Variant Server SPOCD1_000172 1/13006 1/8600 0/4406
1 c.211C>T r.(?) p.(Arg71Trp) g.32280724G>A Copied from the Exome Variant Server SPOCD1_000171 55/13006 49/8600 6/4406
1 c.275G>A r.(?) p.(Arg92Gln) g.32280660C>T Copied from the Exome Variant Server SPOCD1_000170 12/13006 1/8600 11/4406
1 c.317C>T r.(?) p.(Ser106Leu) g.32280618G>A Copied from the Exome Variant Server SPOCD1_000169 1/13004 1/8598 0/4406
1 c.325A>G r.(?) p.(Thr109Ala) g.32280610T>C Copied from the Exome Variant Server SPOCD1_000168 8737/13006 5930/8600 2807/4406
1 c.345C>T r.(=) p.(=) g.32280590G>A Copied from the Exome Variant Server SPOCD1_000167 1/13006 1/8600 0/4406
1 c.407G>A r.(?) p.(Cys136Tyr) g.32280528C>T Copied from the Exome Variant Server SPOCD1_000166 4/13004 0/8598 4/4406
1 c.412A>C r.(=) p.(=) g.32280523T>G Copied from the Exome Variant Server SPOCD1_000165 48/13006 0/8600 48/4406
1 c.428C>T r.(?) p.(Pro143Leu) g.32280507G>A Copied from the Exome Variant Server SPOCD1_000164 1/13006 1/8600 0/4406
1 c.466G>A r.(?) p.(Val156Met) g.32280469C>T Copied from the Exome Variant Server SPOCD1_000163 1/13006 1/8600 0/4406
1 c.492C>A r.(=) p.(=) g.32280443G>T Copied from the Exome Variant Server SPOCD1_000162 5/13000 5/8598 0/4402
1 c.507C>T r.(=) p.(=) g.32280428G>A Copied from the Exome Variant Server SPOCD1_000161 1/13004 0/8600 1/4404
1 c.566C>T r.(?) p.(Pro189Leu) g.32280369G>A Copied from the Exome Variant Server SPOCD1_000160 168/13006 153/8600 15/4406
1 c.577C>T r.(?) p.(Pro193Ser) g.32280358G>A Copied from the Exome Variant Server SPOCD1_000159 1/13006 1/8600 0/4406
1 c.579C>T r.(=) p.(=) g.32280356G>A Copied from the Exome Variant Server SPOCD1_000158 1/13006 0/8600 1/4406
1 c.601G>A r.(?) p.(Val201Ile) g.32280334C>T Copied from the Exome Variant Server SPOCD1_000157 1/13006 1/8600 0/4406
1 c.675C>G r.(?) p.(Phe225Leu) g.32280260G>C Copied from the Exome Variant Server SPOCD1_000156 1/13006 1/8600 0/4406
1 c.688C>G r.(?) p.(Gln230Glu) g.32280247G>C Copied from the Exome Variant Server SPOCD1_000155 1/13006 0/8600 1/4406
1 c.698G>A r.(?) p.(Arg233His) g.32280237C>T Copied from the Exome Variant Server SPOCD1_000154 2/13006 2/8600 0/4406
1 c.714G>C r.(=) p.(=) g.32280221C>G Copied from the Exome Variant Server SPOCD1_000152 1/13006 1/8600 0/4406
1 c.732C>G r.(=) p.(=) g.32280203G>C Copied from the Exome Variant Server SPOCD1_000150 59/13006 1/8600 58/4406
1 c.745C>G r.(?) p.(Leu249Val) g.32280190G>C Copied from the Exome Variant Server SPOCD1_000178 22/13006 0/8600 22/4406
1 c.823G>A r.(?) p.(Gly275Arg) g.32280112C>T Copied from the Exome Variant Server SPOCD1_000148 1/13006 1/8600 0/4406
1 c.866C>G r.(?) p.(Pro289Arg) g.32280069G>C Copied from the Exome Variant Server SPOCD1_000146 8/12978 8/8578 0/4400
1 c.872C>T r.(?) p.(Thr291Ile) g.32280063G>A Copied from the Exome Variant Server SPOCD1_000144 220/12970 200/8578 20/4392
1 c.918C>G r.(?) p.(Phe306Leu) g.32280017G>C Copied from the Exome Variant Server SPOCD1_000142 1/12942 0/8570 1/4372
1 c.993G>A r.(=) p.(=) g.32279942C>T Copied from the Exome Variant Server SPOCD1_000140 25/12948 24/8576 1/4372
1 c.1045A>G r.(?) p.(Thr349Ala) g.32279890T>C Copied from the Exome Variant Server SPOCD1_000138 70/12950 42/8570 28/4380
1 c.1053C>T r.(=) p.(=) g.32279882G>A Copied from the Exome Variant Server SPOCD1_000136 1/12936 0/8558 1/4378
1 c.1064A>G r.(?) p.(Gln355Arg) g.32279871T>C Copied from the Exome Variant Server SPOCD1_000153 70/12930 42/8552 28/4378
1 c.1090C>A r.(?) p.(Leu364Met) g.32279845G>T Copied from the Exome Variant Server SPOCD1_000151 11/12964 11/8576 0/4388
1 c.1109C>T r.(?) p.(Pro370Leu) g.32279826G>A Copied from the Exome Variant Server SPOCD1_000149 2/12980 0/8580 2/4400
1 c.1116del r.(?) p.(Arg373Glyfs*53) g.32279819del Copied from the Exome Variant Server SPOCD1_000147 1/12438 1/8206 0/4232
1 c.1179C>G r.(=) p.(=) g.32279756G>C Copied from the Exome Variant Server SPOCD1_000145 7/13004 4/8598 3/4406
1 c.1205A>T r.(?) p.(Asp402Val) g.32279730T>A Copied from the Exome Variant Server SPOCD1_000143 2/13006 0/8600 2/4406
1 c.1225T>A r.(?) p.(Cys409Ser) g.32279710A>T Copied from the Exome Variant Server SPOCD1_000141 1/13006 1/8600 0/4406
1 c.1230A>G r.(=) p.(=) g.32279705T>C Copied from the Exome Variant Server SPOCD1_000139 2/13006 0/8600 2/4406
1 c.1235C>T r.(?) p.(Pro412Leu) g.32279700G>A Copied from the Exome Variant Server SPOCD1_000137 2/13006 0/8600 2/4406
1 c.1239C>A r.(?) p.(Phe413Leu) g.32279696G>T Copied from the Exome Variant Server SPOCD1_000135 3/13006 0/8600 3/4406
1 c.1302A>G r.(=) p.(=) g.32279633T>C Copied from the Exome Variant Server SPOCD1_000134 1/13006 1/8600 0/4406
1 c.1306C>T r.(?) p.(Arg436Trp) g.32279629G>A Copied from the Exome Variant Server SPOCD1_000133 4755/13006 3765/8600 990/4406
1 c.1318A>G r.(?) p.(Arg440Gly) g.32279617T>C Copied from the Exome Variant Server SPOCD1_000132 1/13006 0/8600 1/4406
1 c.1383+9A>T r.(=) p.(=) g.32279543T>A Copied from the Exome Variant Server SPOCD1_000131 1/13006 1/8600 0/4406
1 c.1384-49G>A r.(=) p.(=) g.32267355C>T Copied from the Exome Variant Server SPOCD1_000130 1/13006 1/8600 0/4406
1 c.1384-46G>A r.(=) p.(=) g.32267352C>T Copied from the Exome Variant Server SPOCD1_000129 1/13006 1/8600 0/4406
1 c.1384-31T>C r.(=) p.(=) g.32267337A>G Copied from the Exome Variant Server SPOCD1_000128 24/13006 0/8600 24/4406
1 c.1423T>C r.(?) p.(Tyr475His) g.32267267A>G Copied from the Exome Variant Server SPOCD1_000127 1/13006 1/8600 0/4406
1 c.1426-32C>T r.(=) p.(=) g.32266250G>A Copied from the Exome Variant Server SPOCD1_000126 4/12496 0/8288 4/4208
1 c.1426-15C>T r.(=) p.(=) g.32266233G>A Copied from the Exome Variant Server SPOCD1_000125 28/12918 1/8528 27/4390
1 c.1426-9C>G r.(=) p.(=) g.32266227G>C Copied from the Exome Variant Server SPOCD1_000124 1/12968 0/8570 1/4398
1 c.1426-2A>G r.spl? p.? g.32266220T>C Copied from the Exome Variant Server SPOCD1_000123 1/12984 1/8584 0/4400
1 c.1453_1456del r.(?) p.(Leu485Glyfs*19) g.32266188_32266191del Copied from the Exome Variant Server SPOCD1_000122 1/12518 1/8254 0/4264
1 c.1461del r.(?) p.(Ile488Serfs*17) g.32266183del Copied from the Exome Variant Server SPOCD1_000121 4/12516 4/8252 0/4264
1 c.1462A>G r.(?) p.(Ile488Val) g.32266182T>C Copied from the Exome Variant Server SPOCD1_000120 1/13002 1/8598 0/4404
1 c.1470C>T r.(=) p.(=) g.32266174G>A Copied from the Exome Variant Server SPOCD1_000119 1/13002 1/8598 0/4404
1 c.1471G>C r.(?) p.(Gly491Arg) g.32266173C>G Copied from the Exome Variant Server SPOCD1_000118 1/13002 1/8598 0/4404
1 c.1549C>G r.(?) p.(Gln517Glu) g.32266095G>C Copied from the Exome Variant Server SPOCD1_000117 1/13006 0/8600 1/4406
1 c.1557C>T r.(=) p.(=) g.32266087G>A Copied from the Exome Variant Server SPOCD1_000116 145/13006 2/8600 143/4406
1 c.1580T>G r.(?) p.(Val527Gly) g.32266064A>C Copied from the Exome Variant Server SPOCD1_000115 1/13004 1/8600 0/4404
1 c.1602+16T>C r.(=) p.(=) g.32266026A>G Copied from the Exome Variant Server SPOCD1_000114 9889/12994 6324/8594 3565/4400
1 c.1602+41C>T r.(=) p.(=) g.32266001G>A Copied from the Exome Variant Server SPOCD1_000113 6/12910 0/8530 6/4380
1 c.1603-34del r.(=) p.(=) g.32265776del Copied from the Exome Variant Server SPOCD1_000112 55/12344 0/8160 55/4184
1 c.1603-30G>A r.(=) p.(=) g.32265772C>T Copied from the Exome Variant Server SPOCD1_000111 1/12876 1/8528 0/4348
1 c.1669C>A r.(?) p.(Pro557Thr) g.32265676G>T Copied from the Exome Variant Server SPOCD1_000110 5/13006 1/8600 4/4406
1 c.1680C>T r.(=) p.(=) g.32265665G>A Copied from the Exome Variant Server SPOCD1_000109 1/13006 0/8600 1/4406
1 c.1719A>G r.(=) p.(=) g.32265626T>C Copied from the Exome Variant Server SPOCD1_000108 2/13006 0/8600 2/4406
1 c.1728+43A>G r.(=) p.(=) g.32265574T>C Copied from the Exome Variant Server SPOCD1_000107 1/13006 1/8600 0/4406
1 c.1729-63T>C r.(=) p.(=) g.32265527A>G Copied from the Exome Variant Server SPOCD1_000106 1/4566 1/3182 0/1384
1 c.1729-58C>T r.(=) p.(=) g.32265522G>A Copied from the Exome Variant Server SPOCD1_000105 3/4566 0/3182 3/1384
1 c.1729-41G>A r.(=) p.(=) g.32265505C>T Copied from the Exome Variant Server SPOCD1_000104 1/13006 0/8600 1/4406
1 c.1729-38C>T r.(=) p.(=) g.32265502G>A Copied from the Exome Variant Server SPOCD1_000103 1/13006 0/8600 1/4406
1 c.1729-14C>T r.(=) p.(=) g.32265478G>A Copied from the Exome Variant Server SPOCD1_000102 1/13006 0/8600 1/4406
1 c.1738A>G r.(?) p.(Met580Val) g.32265455T>C Copied from the Exome Variant Server SPOCD1_000101 1/13006 0/8600 1/4406
1 c.1783+24C>T r.(=) p.(=) g.32265386G>A Copied from the Exome Variant Server SPOCD1_000100 1/13006 1/8600 0/4406
1 c.1783+47G>A r.(=) p.(=) g.32265363C>T Copied from the Exome Variant Server SPOCD1_000099 3/13006 0/8600 3/4406
1 c.1784-30C>G r.(=) p.(=) g.32265116G>C Copied from the Exome Variant Server SPOCD1_000098 1/13000 1/8594 0/4406
1 c.1784-16C>T r.(=) p.(=) g.32265102G>A Copied from the Exome Variant Server SPOCD1_000097 2/13006 0/8600 2/4406
1 c.1784-15G>A r.(=) p.(=) g.32265101C>T Copied from the Exome Variant Server SPOCD1_000096 90/13006 81/8600 9/4406
1 c.1788G>T r.(?) p.(Gln596His) g.32265082C>A Copied from the Exome Variant Server SPOCD1_000095 1/13006 1/8600 0/4406
1 c.1796A>G r.(?) p.(Gln599Arg) g.32265074T>C Copied from the Exome Variant Server SPOCD1_000094 1/13006 1/8600 0/4406
1 c.1816A>G r.(?) p.(Ile606Val) g.32265054T>C Copied from the Exome Variant Server SPOCD1_000093 296/13006 3/8600 293/4406
1 c.1825C>T r.(?) p.(Arg609Trp) g.32265045G>A Copied from the Exome Variant Server SPOCD1_000092 1/13004 0/8600 1/4404
1 c.1868+7C>T r.(=) p.(=) g.32264995G>A Copied from the Exome Variant Server SPOCD1_000091 149/13004 137/8600 12/4404
1 c.1868+11G>T r.(=) p.(=) g.32264991C>A Copied from the Exome Variant Server SPOCD1_000090 2/13002 2/8600 0/4402
1 c.1869-22C>T r.(=) p.(=) g.32264224G>A Copied from the Exome Variant Server SPOCD1_000089 190/13004 4/8598 186/4406
1 c.1869-22del r.(=) p.(=) g.32264224del Copied from the Exome Variant Server SPOCD1_000088 7/12512 6/8248 1/4264
1 c.1869-21G>A r.(=) p.(=) g.32264223C>T Copied from the Exome Variant Server SPOCD1_000087 5/13004 5/8598 0/4406
1 c.1914G>A r.(=) p.(=) g.32264157C>T Copied from the Exome Variant Server SPOCD1_000086 1/13006 1/8600 0/4406
1 c.1915G>A r.(?) p.(Gly639Ser) g.32264156C>T Copied from the Exome Variant Server SPOCD1_000085 1/13006 1/8600 0/4406
1 c.2028+22G>C r.(=) p.(=) g.32264021C>G Copied from the Exome Variant Server SPOCD1_000084 56/13006 1/8600 55/4406
1 c.2028+26C>A r.(=) p.(=) g.32264017G>T Copied from the Exome Variant Server SPOCD1_000083 1/13006 1/8600 0/4406
1 c.2028+27G>A r.(=) p.(=) g.32264016C>T Copied from the Exome Variant Server SPOCD1_000082 144/13006 2/8600 142/4406
1 c.2028+44C>T r.(=) p.(=) g.32263999G>A Copied from the Exome Variant Server SPOCD1_000081 1/13006 0/8600 1/4406
1 c.2029-52G>A r.(=) p.(=) g.32263976C>T Copied from the Exome Variant Server SPOCD1_000079 35/7272 0/4618 35/2654
1 c.2029-50G>A r.(=) p.(=) g.32263974C>T Copied from the Exome Variant Server SPOCD1_000077 40/13006 0/8600 40/4406
Legend   « First ‹ Prev     1 2     Next › Last »