Full data view for gene SPAG9

Information The variants shown are described using the NM_003971.5 transcript reference sequence.

212 entries on 3 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.1A>G r.? p.? g.49198017T>C Copied from the Exome Variant Server SPAG9_000212 2/12902 2/8540 0/4362 - - - - - - -
?/? c.87C>T r.(=) p.(=) g.49197931G>A Copied from the Exome Variant Server SPAG9_000211 32/13006 0/8600 32/4406 - - - - - - -
?/? c.135G>A r.(=) p.(=) g.49197883C>T Copied from the Exome Variant Server SPAG9_000210 335/13006 39/8600 296/4406 - - - - - - -
?/? c.148C>T r.(=) p.(=) g.49197870G>A Copied from the Exome Variant Server SPAG9_000209 4/13006 0/8600 4/4406 - - - - - - -
?/? c.196G>A r.(?) p.(Ala66Thr) g.49197822C>T Copied from the Exome Variant Server SPAG9_000208 1/13006 1/8600 0/4406 - - - - - - -
?/? c.304-44del r.(=) p.(=) g.49157109del Copied from the Exome Variant Server SPAG9_000207 2/12442 2/8236 0/4206 - - - - - - -
?/? c.424+3A>G r.spl? p.? g.49156942T>C Copied from the Exome Variant Server SPAG9_000206 4/13002 0/8598 4/4404 - - - - - - -
?/? c.424+20T>G r.(=) p.(=) g.49156925A>C Copied from the Exome Variant Server SPAG9_000205 3/13004 3/8600 0/4404 - - - - - - -
?/? c.424+36G>T r.(=) p.(=) g.49156909C>A Copied from the Exome Variant Server SPAG9_000204 10/13006 0/8600 10/4406 - - - - - - -
?/? c.424+38T>C r.(=) p.(=) g.49156907A>G Copied from the Exome Variant Server SPAG9_000203 3990/13006 2561/8600 1429/4406 - - - - - - -
?/? c.425-18T>A r.(=) p.(=) g.49133861A>T Copied from the Exome Variant Server SPAG9_000201 2/13006 0/8600 2/4406 - - - - - - -
?/? c.495+45G>T r.(=) p.(=) g.49133728C>A Copied from the Exome Variant Server SPAG9_000199 146/13002 0/8596 146/4406 - - - - - - -
?/? c.496-41T>A r.(=) p.(=) g.49124871A>T Copied from the Exome Variant Server SPAG9_000202 1/12948 1/8560 0/4388 - - - - - - -
?/? c.496-16_496-15insT r.(=) p.(=) g.49124845_49124846insA Copied from the Exome Variant Server SPAG9_000200 7568/12474 4611/8216 2957/4258 - - - - - - -
?/? c.568T>G r.(?) p.(Ser190Ala) g.49124758A>C Copied from the Exome Variant Server SPAG9_000198 1/13002 0/8596 1/4406 - - - - - - -
?/? c.574G>C r.(?) p.(Ala192Pro) g.49124752C>G Copied from the Exome Variant Server SPAG9_000197 1/13002 1/8596 0/4406 - - - - - - -
?/? c.581G>A r.(?) p.(Ser194Asn) g.49124745C>T Copied from the Exome Variant Server SPAG9_000196 6/13000 0/8594 6/4406 - - - - - - -
?/? c.590+10G>T r.(=) p.(=) g.49124726C>A Copied from the Exome Variant Server SPAG9_000195 1/12996 1/8590 0/4406 - - - - - - -
?/? c.590+14T>C r.(=) p.(=) g.49124722A>G Copied from the Exome Variant Server SPAG9_000194 1/12996 1/8590 0/4406 - - - - - - -
?/? c.590+42A>G r.(=) p.(=) g.49124694T>C Copied from the Exome Variant Server SPAG9_000193 33/12974 0/8570 33/4404 - - - - - - -
?/? c.591-34T>G r.(=) p.(=) g.49119046A>C Copied from the Exome Variant Server SPAG9_000192 5/13006 0/8600 5/4406 - - - - - - -
?/? c.591-26G>A r.(=) p.(=) g.49119038C>T Copied from the Exome Variant Server SPAG9_000191 3/13004 2/8598 1/4406 - - - - - - -
?/? c.598C>T r.(?) p.(Arg200Cys) g.49119005G>A Copied from the Exome Variant Server SPAG9_000190 1/13006 0/8600 1/4406 - - - - - - -
?/? c.599G>A r.(?) p.(Arg200His) g.49119004C>T Copied from the Exome Variant Server SPAG9_000189 1/13006 0/8600 1/4406 - - - - - - -
?/? c.645G>A r.(=) p.(=) g.49118958C>T Copied from the Exome Variant Server SPAG9_000188 1/13006 1/8600 0/4406 - - - - - - -
?/? c.650C>T r.(?) p.(Thr217Ile) g.49118953G>A Copied from the Exome Variant Server SPAG9_000187 1/13006 1/8600 0/4406 - - - - - - -
?/? c.722G>A r.(?) p.(Arg241His) g.49118881C>T Copied from the Exome Variant Server SPAG9_000186 2/13006 2/8600 0/4406 - - - - - - -
?/? c.727C>G r.(?) p.(His243Asp) g.49118876G>C Copied from the Exome Variant Server SPAG9_000185 12/13006 0/8600 12/4406 - - - - - - -
?/? c.738G>A r.(=) p.(=) g.49118865C>T Copied from the Exome Variant Server SPAG9_000184 2/13006 2/8600 0/4406 - - - - - - -
?/? c.739A>C r.(?) p.(Lys247Gln) g.49118864T>G Copied from the Exome Variant Server SPAG9_000183 3/13006 3/8600 0/4406 - - - - - - -
?/? c.741+5G>C r.spl? p.? g.49118857C>G Copied from the Exome Variant Server SPAG9_000182 1/13006 1/8600 0/4406 - - - - - - -
?/? c.741+49_741+50insT r.(=) p.(=) g.49118812_49118813insA Copied from the Exome Variant Server SPAG9_000181 1/12518 0/8254 1/4264 - - - - - - -
?/? c.741+9807C>T r.(=) p.(=) g.49109055G>A Copied from the Exome Variant Server SPAG9_000180 1/4566 1/3182 0/1384 - - - - - - -
?/? c.795A>G r.(=) p.(=) g.49098673T>C Copied from the Exome Variant Server SPAG9_000179 1/13006 1/8600 0/4406 - - - - - - -
?/? c.799G>A r.(?) p.(Ala267Thr) g.49098669C>T Copied from the Exome Variant Server SPAG9_000178 21/13006 0/8600 21/4406 - - - - - - -
?/? c.806C>T r.(?) p.(Ser269Leu) g.49098662G>A Copied from the Exome Variant Server SPAG9_000177 9/13006 9/8600 0/4406 - - - - - - -
?/? c.812T>C r.(?) p.(Val271Ala) g.49098656A>G Copied from the Exome Variant Server SPAG9_000176 1/13006 1/8600 0/4406 - - - - - - -
?/? c.817A>G r.(?) p.(Thr273Ala) g.49098651T>C Copied from the Exome Variant Server SPAG9_000175 2/13006 2/8600 0/4406 - - - - - - -
?/? c.819A>G r.(=) p.(=) g.49098649T>C Copied from the Exome Variant Server SPAG9_000174 1/13006 1/8600 0/4406 - - - - - - -
?/? c.857G>A r.(?) p.(Gly286Glu) g.49098611C>T Copied from the Exome Variant Server SPAG9_000173 1/13006 1/8600 0/4406 - - - - - - -
?/? c.875A>C r.(?) p.(Asp292Ala) g.49098593T>G Copied from the Exome Variant Server SPAG9_000172 16/13006 0/8600 16/4406 - - - - - - -
?/? c.878C>T r.(?) p.(Ala293Val) g.49098590G>A Copied from the Exome Variant Server SPAG9_000171 3/13006 0/8600 3/4406 - - - - - - -
?/? c.891A>G r.(=) p.(=) g.49098577T>C Copied from the Exome Variant Server SPAG9_000170 1/13006 1/8600 0/4406 - - - - - - -
?/? c.901A>G r.(?) p.(Lys301Glu) g.49098567T>C Copied from the Exome Variant Server SPAG9_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.928G>A r.(?) p.(Glu310Lys) g.49098540C>T Copied from the Exome Variant Server SPAG9_000168 2/13006 2/8600 0/4406 - - - - - - -
?/? c.949+17C>G r.(=) p.(=) g.49098502G>C Copied from the Exome Variant Server SPAG9_000167 23/13006 0/8600 23/4406 - - - - - - -
?/? c.950-46A>G r.(=) p.(=) g.49097665T>C Copied from the Exome Variant Server SPAG9_000166 5/13002 0/8596 5/4406 - - - - - - -
?/? c.988A>G r.(?) p.(Ile330Val) g.49097581T>C Copied from the Exome Variant Server SPAG9_000165 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1049+19G>T r.(=) p.(=) g.49097501C>A Copied from the Exome Variant Server SPAG9_000164 2909/13004 2526/8598 383/4406 - - - - - - -
?/? c.1049+31T>G r.(=) p.(=) g.49097489A>C Copied from the Exome Variant Server SPAG9_000163 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1049+40del r.(=) p.(=) g.49097480del Copied from the Exome Variant Server SPAG9_000162 16/12516 4/8252 12/4264 - - - - - - -
?/? c.1049+40dup r.(=) p.(=) g.49097480dup Copied from the Exome Variant Server SPAG9_000161 450/12516 6/8252 444/4264 - - - - - - -
?/? c.1050-48A>G r.(=) p.(=) g.49091762T>C Copied from the Exome Variant Server SPAG9_000160 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1050-39G>A r.(=) p.(=) g.49091753C>T Copied from the Exome Variant Server SPAG9_000159 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1050-33del r.(=) p.(=) g.49091747del Copied from the Exome Variant Server SPAG9_000158 324/12518 2/8254 322/4264 - - - - - - -
?/? c.1152T>C r.(=) p.(=) g.49091612A>G Copied from the Exome Variant Server SPAG9_000157 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1172-46A>G r.(=) p.(=) g.49084733T>C Copied from the Exome Variant Server SPAG9_000156 1/12810 1/8526 0/4284 - - - - - - -
?/? c.1172-9G>A r.(=) p.(=) g.49084696C>T Copied from the Exome Variant Server SPAG9_000155 1/12990 1/8592 0/4398 - - - - - - -
?/? c.1172-4A>G r.spl? p.? g.49084691T>C Copied from the Exome Variant Server SPAG9_000154 1/12996 0/8598 1/4398 - - - - - - -
?/? c.1181G>A r.(?) p.(Arg394Gln) g.49084678C>T Copied from the Exome Variant Server SPAG9_000153 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1227C>T r.(=) p.(=) g.49084632G>A Copied from the Exome Variant Server SPAG9_000152 1/12998 1/8594 0/4404 - - - - - - -
?/? c.1229+11G>A r.(=) p.(=) g.49084619C>T Copied from the Exome Variant Server SPAG9_000151 1/12996 1/8594 0/4402 - - - - - - -
?/? c.1229+34G>T r.(=) p.(=) g.49084596C>A Copied from the Exome Variant Server SPAG9_000150 8/12996 1/8592 7/4404 - - - - - - -
?/? c.1229+43T>G r.(=) p.(=) g.49084587A>C Copied from the Exome Variant Server SPAG9_000149 1/12996 1/8592 0/4404 - - - - - - -
?/? c.1230-50T>C r.(=) p.(=) g.49083648A>G Copied from the Exome Variant Server SPAG9_000148 8/13000 0/8596 8/4404 - - - - - - -
?/? c.1230-42del r.(=) p.(=) g.49083640del Copied from the Exome Variant Server SPAG9_000147 1/12508 1/8250 0/4258 - - - - - - -
?/? c.1230-36A>G r.(=) p.(=) g.49083634T>C Copied from the Exome Variant Server SPAG9_000146 2/13000 1/8596 1/4404 - - - - - - -
?/? c.1230-21C>G r.(=) p.(=) g.49083619G>C Copied from the Exome Variant Server SPAG9_000145 146/13000 0/8596 146/4404 - - - - - - -
?/? c.1300C>T r.(=) p.(=) g.49083528G>A Copied from the Exome Variant Server SPAG9_000144 660/13006 5/8600 655/4406 - - - - - - -
?/? c.1358G>A r.(?) p.(Arg453Lys) g.49083470C>T Copied from the Exome Variant Server SPAG9_000143 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1382+28C>T r.(=) p.(=) g.49083418G>A Copied from the Exome Variant Server SPAG9_000142 7/13002 5/8600 2/4402 - - - - - - -
?/? c.1424A>G r.(?) p.(Asp475Gly) g.49082583T>C Copied from the Exome Variant Server SPAG9_000141 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1434+10C>T r.(=) p.(=) g.49082563G>A Copied from the Exome Variant Server SPAG9_000140 71/13006 69/8600 2/4406 - - - - - - -
?/? c.1434+19A>T r.(=) p.(=) g.49082554T>A Copied from the Exome Variant Server SPAG9_000139 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1435-48del r.(=) p.(=) g.49079254del Copied from the Exome Variant Server SPAG9_000138 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1435-13C>G r.(=) p.(=) g.49079219G>C Copied from the Exome Variant Server SPAG9_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1435-10G>C r.(=) p.(=) g.49079216C>G Copied from the Exome Variant Server SPAG9_000136 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1566-23T>G r.(=) p.(=) g.49077101A>C Copied from the Exome Variant Server SPAG9_000135 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1590G>C r.(?) p.(Met530Ile) g.49077054C>G Copied from the Exome Variant Server SPAG9_000134 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1605G>A r.(=) p.(=) g.49077039C>T Copied from the Exome Variant Server SPAG9_000133 13/13006 7/8600 6/4406 - - - - - - -
?/? c.1614T>C r.(=) p.(=) g.49077030A>G Copied from the Exome Variant Server SPAG9_000132 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1622+17A>G r.(=) p.(=) g.49077005T>C Copied from the Exome Variant Server SPAG9_000131 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1623-43T>C r.(=) p.(=) g.49076021A>G Copied from the Exome Variant Server SPAG9_000130 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1623-35T>C r.(=) p.(=) g.49076013A>G Copied from the Exome Variant Server SPAG9_000129 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1623-32A>T r.(=) p.(=) g.49076010T>A Copied from the Exome Variant Server SPAG9_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1623-17A>G r.(=) p.(=) g.49075995T>C Copied from the Exome Variant Server SPAG9_000127 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1631G>A r.(?) p.(Arg544Gln) g.49075970C>T Copied from the Exome Variant Server SPAG9_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1653C>T r.(=) p.(=) g.49075948G>A Copied from the Exome Variant Server SPAG9_000125 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1656G>A r.(=) p.(=) g.49075945C>T Copied from the Exome Variant Server SPAG9_000124 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1661A>C r.(?) p.(Lys554Thr) g.49075940T>G Copied from the Exome Variant Server SPAG9_000123 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1684C>T r.(=) p.(=) g.49075917G>A Copied from the Exome Variant Server SPAG9_000122 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1722C>G r.(=) p.(=) g.49075879G>C Copied from the Exome Variant Server SPAG9_000121 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1723G>A r.(?) p.(Val575Ile) g.49075878C>T Copied from the Exome Variant Server SPAG9_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1769C>A r.(?) p.(Ser590Tyr) g.49075832G>T Copied from the Exome Variant Server SPAG9_000119 10/13006 9/8600 1/4406 - - - - - - -
?/? c.1797-37G>A r.(=) p.(=) g.49074092C>T Copied from the Exome Variant Server SPAG9_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1811T>C r.(?) p.(Leu604Ser) g.49074041A>G Copied from the Exome Variant Server SPAG9_000117 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1846C>T r.(?) p.(Arg616Cys) g.49074006G>A Copied from the Exome Variant Server SPAG9_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1863T>C r.(=) p.(=) g.49073989A>G Copied from the Exome Variant Server SPAG9_000115 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1872G>A r.(=) p.(=) g.49073980C>T Copied from the Exome Variant Server SPAG9_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1887G>A r.(=) p.(=) g.49073965C>T Copied from the Exome Variant Server SPAG9_000113 1/13006 1/8600 0/4406 - - - - - - -
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